Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178609941G>ACA283393TTN,TTN-AS1c.43778C>T (p.Ala14593Val)
c.24863C>T (p.Ala8288Val)
c.24662C>T (p.Ala8221Val)
c.24287C>T (p.Ala8096Val)
c.51482C>T (p.Ala17161Val)
c.46559C>T (p.Ala15520Val)
n.782+1675G>A
c.50579C>T (p.Ala16860Val)
c.24473C>T (p.Ala8158Val)
c.24332C>T (p.Ala8111Val)
c.50375C>T (p.Ala16792Val)
c.45773C>T (p.Ala15258Val)
c.45770C>T (p.Ala15257Val)
c.42812C>T (p.Ala14271Val)
c.24428C>T (p.Ala8143Val)
c.45923C>T (p.Ala15308Val)
c.45920C>T (p.Ala15307Val)
c.45353C>T (p.Ala15118Val)
c.42695C>T (p.Ala14232Val)
c.42614C>T (p.Ala14205Val)
c.24377C>T (p.Ala8126Val)
c.14231C>T (p.Ala4744Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178609941G>CCA349585389TTN,TTN-AS1c.43778C>G (p.Ala14593Gly)
c.24863C>G (p.Ala8288Gly)
c.24662C>G (p.Ala8221Gly)
c.24287C>G (p.Ala8096Gly)
c.51482C>G (p.Ala17161Gly)
c.46559C>G (p.Ala15520Gly)
n.782+1675G>C
c.50579C>G (p.Ala16860Gly)
c.24473C>G (p.Ala8158Gly)
c.24332C>G (p.Ala8111Gly)
c.50375C>G (p.Ala16792Gly)
c.45773C>G (p.Ala15258Gly)
c.45770C>G (p.Ala15257Gly)
c.42812C>G (p.Ala14271Gly)
c.24428C>G (p.Ala8143Gly)
c.45923C>G (p.Ala15308Gly)
c.45920C>G (p.Ala15307Gly)
c.45353C>G (p.Ala15118Gly)
c.42695C>G (p.Ala14232Gly)
c.42614C>G (p.Ala14205Gly)
c.24377C>G (p.Ala8126Gly)
c.14231C>G (p.Ala4744Gly)
2g.178609941G=CA1310547547TTN,TTN-AS1c.43778C= (p.Ala14593=)
c.24863C= (p.Ala8288=)
c.24662C= (p.Ala8221=)
c.24287C= (p.Ala8096=)
c.51482C= (p.Ala17161=)
c.46559C= (p.Ala15520=)
n.782+1675G=
c.50579C= (p.Ala16860=)
c.24473C= (p.Ala8158=)
c.24332C= (p.Ala8111=)
c.50375C= (p.Ala16792=)
c.45773C= (p.Ala15258=)
c.45770C= (p.Ala15257=)
c.42812C= (p.Ala14271=)
c.24428C= (p.Ala8143=)
c.45923C= (p.Ala15308=)
c.45920C= (p.Ala15307=)
c.45353C= (p.Ala15118=)
c.42695C= (p.Ala14232=)
c.42614C= (p.Ala14205=)
c.24377C= (p.Ala8126=)
c.14231C= (p.Ala4744=)
2g.178609941G>TCA349585393TTN,TTN-AS1c.43778C>A (p.Ala14593Glu)
c.24863C>A (p.Ala8288Glu)
c.24662C>A (p.Ala8221Glu)
c.24287C>A (p.Ala8096Glu)
c.51482C>A (p.Ala17161Glu)
c.46559C>A (p.Ala15520Glu)
n.782+1675G>T
c.50579C>A (p.Ala16860Glu)
c.24473C>A (p.Ala8158Glu)
c.24332C>A (p.Ala8111Glu)
c.50375C>A (p.Ala16792Glu)
c.45773C>A (p.Ala15258Glu)
c.45770C>A (p.Ala15257Glu)
c.42812C>A (p.Ala14271Glu)
c.24428C>A (p.Ala8143Glu)
c.45923C>A (p.Ala15308Glu)
c.45920C>A (p.Ala15307Glu)
c.45353C>A (p.Ala15118Glu)
c.42695C>A (p.Ala14232Glu)
c.42614C>A (p.Ala14205Glu)
c.24377C>A (p.Ala8126Glu)
c.14231C>A (p.Ala4744Glu)
2g.178609942C>ACA349585421TTN,TTN-AS1c.43777G>T (p.Ala14593Ser)
c.24862G>T (p.Ala8288Ser)
c.24661G>T (p.Ala8221Ser)
c.24286G>T (p.Ala8096Ser)
c.51481G>T (p.Ala17161Ser)
c.46558G>T (p.Ala15520Ser)
n.782+1676C>A
c.50578G>T (p.Ala16860Ser)
c.24472G>T (p.Ala8158Ser)
c.24331G>T (p.Ala8111Ser)
c.50374G>T (p.Ala16792Ser)
c.45772G>T (p.Ala15258Ser)
c.45769G>T (p.Ala15257Ser)
c.42811G>T (p.Ala14271Ser)
c.24427G>T (p.Ala8143Ser)
c.45922G>T (p.Ala15308Ser)
c.45919G>T (p.Ala15307Ser)
c.45352G>T (p.Ala15118Ser)
c.42694G>T (p.Ala14232Ser)
c.42613G>T (p.Ala14205Ser)
c.24376G>T (p.Ala8126Ser)
c.14230G>T (p.Ala4744Ser)
 gnomAD v4
2g.178609942C=CA1310547548TTN,TTN-AS1c.43777G= (p.Ala14593=)
c.24862G= (p.Ala8288=)
c.24661G= (p.Ala8221=)
c.24286G= (p.Ala8096=)
c.51481G= (p.Ala17161=)
c.46558G= (p.Ala15520=)
n.782+1676C=
c.50578G= (p.Ala16860=)
c.24472G= (p.Ala8158=)
c.24331G= (p.Ala8111=)
c.50374G= (p.Ala16792=)
c.45772G= (p.Ala15258=)
c.45769G= (p.Ala15257=)
c.42811G= (p.Ala14271=)
c.24427G= (p.Ala8143=)
c.45922G= (p.Ala15308=)
c.45919G= (p.Ala15307=)
c.45352G= (p.Ala15118=)
c.42694G= (p.Ala14232=)
c.42613G= (p.Ala14205=)
c.24376G= (p.Ala8126=)
c.14230G= (p.Ala4744=)
2g.178609942C>GCA349585418TTN,TTN-AS1c.43777G>C (p.Ala14593Pro)
c.24862G>C (p.Ala8288Pro)
c.24661G>C (p.Ala8221Pro)
c.24286G>C (p.Ala8096Pro)
c.51481G>C (p.Ala17161Pro)
c.46558G>C (p.Ala15520Pro)
n.782+1676C>G
c.50578G>C (p.Ala16860Pro)
c.24472G>C (p.Ala8158Pro)
c.24331G>C (p.Ala8111Pro)
c.50374G>C (p.Ala16792Pro)
c.45772G>C (p.Ala15258Pro)
c.45769G>C (p.Ala15257Pro)
c.42811G>C (p.Ala14271Pro)
c.24427G>C (p.Ala8143Pro)
c.45922G>C (p.Ala15308Pro)
c.45919G>C (p.Ala15307Pro)
c.45352G>C (p.Ala15118Pro)
c.42694G>C (p.Ala14232Pro)
c.42613G>C (p.Ala14205Pro)
c.24376G>C (p.Ala8126Pro)
c.14230G>C (p.Ala4744Pro)
2g.178609942C>TCA349585403TTN,TTN-AS1c.43777G>A (p.Ala14593Thr)
c.24862G>A (p.Ala8288Thr)
c.24661G>A (p.Ala8221Thr)
c.24286G>A (p.Ala8096Thr)
c.51481G>A (p.Ala17161Thr)
c.46558G>A (p.Ala15520Thr)
n.782+1676C>T
c.50578G>A (p.Ala16860Thr)
c.24472G>A (p.Ala8158Thr)
c.24331G>A (p.Ala8111Thr)
c.50374G>A (p.Ala16792Thr)
c.45772G>A (p.Ala15258Thr)
c.45769G>A (p.Ala15257Thr)
c.42811G>A (p.Ala14271Thr)
c.24427G>A (p.Ala8143Thr)
c.45922G>A (p.Ala15308Thr)
c.45919G>A (p.Ala15307Thr)
c.45352G>A (p.Ala15118Thr)
c.42694G>A (p.Ala14232Thr)
c.42613G>A (p.Ala14205Thr)
c.24376G>A (p.Ala8126Thr)
c.14230G>A (p.Ala4744Thr)
 ClinVar dbSNP
2g.178609943T>ACA430272264TTN,TTN-AS1c.43776A>T (p.Thr14592=)
c.24861A>T (p.Thr8287=)
c.24660A>T (p.Thr8220=)
c.24285A>T (p.Thr8095=)
c.51480A>T (p.Thr17160=)
c.46557A>T (p.Thr15519=)
n.782+1677T>A
c.50577A>T (p.Thr16859=)
c.24471A>T (p.Thr8157=)
c.24330A>T (p.Thr8110=)
c.50373A>T (p.Thr16791=)
c.45771A>T (p.Thr15257=)
c.45768A>T (p.Thr15256=)
c.42810A>T (p.Thr14270=)
c.24426A>T (p.Thr8142=)
c.45921A>T (p.Thr15307=)
c.45918A>T (p.Thr15306=)
c.45351A>T (p.Thr15117=)
c.42693A>T (p.Thr14231=)
c.42612A>T (p.Thr14204=)
c.24375A>T (p.Thr8125=)
c.14229A>T (p.Thr4743=)
2g.178609943T>CCA430272265TTN,TTN-AS1c.43776A>G (p.Thr14592=)
c.24861A>G (p.Thr8287=)
c.24660A>G (p.Thr8220=)
c.24285A>G (p.Thr8095=)
c.51480A>G (p.Thr17160=)
c.46557A>G (p.Thr15519=)
n.782+1677T>C
c.50577A>G (p.Thr16859=)
c.24471A>G (p.Thr8157=)
c.24330A>G (p.Thr8110=)
c.50373A>G (p.Thr16791=)
c.45771A>G (p.Thr15257=)
c.45768A>G (p.Thr15256=)
c.42810A>G (p.Thr14270=)
c.24426A>G (p.Thr8142=)
c.45921A>G (p.Thr15307=)
c.45918A>G (p.Thr15306=)
c.45351A>G (p.Thr15117=)
c.42693A>G (p.Thr14231=)
c.42612A>G (p.Thr14204=)
c.24375A>G (p.Thr8125=)
c.14229A>G (p.Thr4743=)
2g.178609943T>GCA430272266TTN,TTN-AS1c.43776A>C (p.Thr14592=)
c.24861A>C (p.Thr8287=)
c.24660A>C (p.Thr8220=)
c.24285A>C (p.Thr8095=)
c.51480A>C (p.Thr17160=)
c.46557A>C (p.Thr15519=)
n.782+1677T>G
c.50577A>C (p.Thr16859=)
c.24471A>C (p.Thr8157=)
c.24330A>C (p.Thr8110=)
c.50373A>C (p.Thr16791=)
c.45771A>C (p.Thr15257=)
c.45768A>C (p.Thr15256=)
c.42810A>C (p.Thr14270=)
c.24426A>C (p.Thr8142=)
c.45921A>C (p.Thr15307=)
c.45918A>C (p.Thr15306=)
c.45351A>C (p.Thr15117=)
c.42693A>C (p.Thr14231=)
c.42612A>C (p.Thr14204=)
c.24375A>C (p.Thr8125=)
c.14229A>C (p.Thr4743=)
 ClinVar dbSNP
2g.178609944G>ACA349585426TTN,TTN-AS1c.43775C>T (p.Thr14592Ile)
c.24860C>T (p.Thr8287Ile)
c.24659C>T (p.Thr8220Ile)
c.24284C>T (p.Thr8095Ile)
c.51479C>T (p.Thr17160Ile)
c.46556C>T (p.Thr15519Ile)
n.782+1678G>A
c.50576C>T (p.Thr16859Ile)
c.24470C>T (p.Thr8157Ile)
c.24329C>T (p.Thr8110Ile)
c.50372C>T (p.Thr16791Ile)
c.45770C>T (p.Thr15257Ile)
c.45767C>T (p.Thr15256Ile)
c.42809C>T (p.Thr14270Ile)
c.24425C>T (p.Thr8142Ile)
c.45920C>T (p.Thr15307Ile)
c.45917C>T (p.Thr15306Ile)
c.45350C>T (p.Thr15117Ile)
c.42692C>T (p.Thr14231Ile)
c.42611C>T (p.Thr14204Ile)
c.24374C>T (p.Thr8125Ile)
c.14228C>T (p.Thr4743Ile)
 gnomAD v4
2g.178609944G>CCA349585428TTN,TTN-AS1c.43775C>G (p.Thr14592Arg)
c.24860C>G (p.Thr8287Arg)
c.24659C>G (p.Thr8220Arg)
c.24284C>G (p.Thr8095Arg)
c.51479C>G (p.Thr17160Arg)
c.46556C>G (p.Thr15519Arg)
n.782+1678G>C
c.50576C>G (p.Thr16859Arg)
c.24470C>G (p.Thr8157Arg)
c.24329C>G (p.Thr8110Arg)
c.50372C>G (p.Thr16791Arg)
c.45770C>G (p.Thr15257Arg)
c.45767C>G (p.Thr15256Arg)
c.42809C>G (p.Thr14270Arg)
c.24425C>G (p.Thr8142Arg)
c.45920C>G (p.Thr15307Arg)
c.45917C>G (p.Thr15306Arg)
c.45350C>G (p.Thr15117Arg)
c.42692C>G (p.Thr14231Arg)
c.42611C>G (p.Thr14204Arg)
c.24374C>G (p.Thr8125Arg)
c.14228C>G (p.Thr4743Arg)
2g.178609944G>TCA349585430TTN,TTN-AS1c.43775C>A (p.Thr14592Lys)
c.24860C>A (p.Thr8287Lys)
c.24659C>A (p.Thr8220Lys)
c.24284C>A (p.Thr8095Lys)
c.51479C>A (p.Thr17160Lys)
c.46556C>A (p.Thr15519Lys)
n.782+1678G>T
c.50576C>A (p.Thr16859Lys)
c.24470C>A (p.Thr8157Lys)
c.24329C>A (p.Thr8110Lys)
c.50372C>A (p.Thr16791Lys)
c.45770C>A (p.Thr15257Lys)
c.45767C>A (p.Thr15256Lys)
c.42809C>A (p.Thr14270Lys)
c.24425C>A (p.Thr8142Lys)
c.45920C>A (p.Thr15307Lys)
c.45917C>A (p.Thr15306Lys)
c.45350C>A (p.Thr15117Lys)
c.42692C>A (p.Thr14231Lys)
c.42611C>A (p.Thr14204Lys)
c.24374C>A (p.Thr8125Lys)
c.14228C>A (p.Thr4743Lys)
2g.178609945T>ACA349585435TTN,TTN-AS1c.43774A>T (p.Thr14592Ser)
c.24859A>T (p.Thr8287Ser)
c.24658A>T (p.Thr8220Ser)
c.24283A>T (p.Thr8095Ser)
c.51478A>T (p.Thr17160Ser)
c.46555A>T (p.Thr15519Ser)
n.782+1679T>A
c.50575A>T (p.Thr16859Ser)
c.24469A>T (p.Thr8157Ser)
c.24328A>T (p.Thr8110Ser)
c.50371A>T (p.Thr16791Ser)
c.45769A>T (p.Thr15257Ser)
c.45766A>T (p.Thr15256Ser)
c.42808A>T (p.Thr14270Ser)
c.24424A>T (p.Thr8142Ser)
c.45919A>T (p.Thr15307Ser)
c.45916A>T (p.Thr15306Ser)
c.45349A>T (p.Thr15117Ser)
c.42691A>T (p.Thr14231Ser)
c.42610A>T (p.Thr14204Ser)
c.24373A>T (p.Thr8125Ser)
c.14227A>T (p.Thr4743Ser)
 gnomAD v4
2g.178609945T>CCA349585440TTN,TTN-AS1c.43774A>G (p.Thr14592Ala)
c.24859A>G (p.Thr8287Ala)
c.24658A>G (p.Thr8220Ala)
c.24283A>G (p.Thr8095Ala)
c.51478A>G (p.Thr17160Ala)
c.46555A>G (p.Thr15519Ala)
n.782+1679T>C
c.50575A>G (p.Thr16859Ala)
c.24469A>G (p.Thr8157Ala)
c.24328A>G (p.Thr8110Ala)
c.50371A>G (p.Thr16791Ala)
c.45769A>G (p.Thr15257Ala)
c.45766A>G (p.Thr15256Ala)
c.42808A>G (p.Thr14270Ala)
c.24424A>G (p.Thr8142Ala)
c.45919A>G (p.Thr15307Ala)
c.45916A>G (p.Thr15306Ala)
c.45349A>G (p.Thr15117Ala)
c.42691A>G (p.Thr14231Ala)
c.42610A>G (p.Thr14204Ala)
c.24373A>G (p.Thr8125Ala)
c.14227A>G (p.Thr4743Ala)
2g.178609945T>GCA349585445TTN,TTN-AS1c.43774A>C (p.Thr14592Pro)
c.24859A>C (p.Thr8287Pro)
c.24658A>C (p.Thr8220Pro)
c.24283A>C (p.Thr8095Pro)
c.51478A>C (p.Thr17160Pro)
c.46555A>C (p.Thr15519Pro)
n.782+1679T>G
c.50575A>C (p.Thr16859Pro)
c.24469A>C (p.Thr8157Pro)
c.24328A>C (p.Thr8110Pro)
c.50371A>C (p.Thr16791Pro)
c.45769A>C (p.Thr15257Pro)
c.45766A>C (p.Thr15256Pro)
c.42808A>C (p.Thr14270Pro)
c.24424A>C (p.Thr8142Pro)
c.45919A>C (p.Thr15307Pro)
c.45916A>C (p.Thr15306Pro)
c.45349A>C (p.Thr15117Pro)
c.42691A>C (p.Thr14231Pro)
c.42610A>C (p.Thr14204Pro)
c.24373A>C (p.Thr8125Pro)
c.14227A>C (p.Thr4743Pro)
2g.178609946A=CA1310547549TTN,TTN-AS1c.43773T= (p.Pro14591=)
c.24858T= (p.Pro8286=)
c.24657T= (p.Pro8219=)
c.24282T= (p.Pro8094=)
c.51477T= (p.Pro17159=)
c.46554T= (p.Pro15518=)
n.782+1680A=
c.50574T= (p.Pro16858=)
c.24468T= (p.Pro8156=)
c.24327T= (p.Pro8109=)
c.50370T= (p.Pro16790=)
c.45768T= (p.Pro15256=)
c.45765T= (p.Pro15255=)
c.42807T= (p.Pro14269=)
c.24423T= (p.Pro8141=)
c.45918T= (p.Pro15306=)
c.45915T= (p.Pro15305=)
c.45348T= (p.Pro15116=)
c.42690T= (p.Pro14230=)
c.42609T= (p.Pro14203=)
c.24372T= (p.Pro8124=)
c.14226T= (p.Pro4742=)
2g.178609946A>CCA430272278TTN,TTN-AS1c.43773T>G (p.Pro14591=)
c.24858T>G (p.Pro8286=)
c.24657T>G (p.Pro8219=)
c.24282T>G (p.Pro8094=)
c.51477T>G (p.Pro17159=)
c.46554T>G (p.Pro15518=)
n.782+1680A>C
c.50574T>G (p.Pro16858=)
c.24468T>G (p.Pro8156=)
c.24327T>G (p.Pro8109=)
c.50370T>G (p.Pro16790=)
c.45768T>G (p.Pro15256=)
c.45765T>G (p.Pro15255=)
c.42807T>G (p.Pro14269=)
c.24423T>G (p.Pro8141=)
c.45918T>G (p.Pro15306=)
c.45915T>G (p.Pro15305=)
c.45348T>G (p.Pro15116=)
c.42690T>G (p.Pro14230=)
c.42609T>G (p.Pro14203=)
c.24372T>G (p.Pro8124=)
c.14226T>G (p.Pro4742=)
2g.178609946A>GCA1994180TTN,TTN-AS1c.43773T>C (p.Pro14591=)
c.24858T>C (p.Pro8286=)
c.24657T>C (p.Pro8219=)
c.24282T>C (p.Pro8094=)
c.51477T>C (p.Pro17159=)
c.46554T>C (p.Pro15518=)
n.782+1680A>G
c.50574T>C (p.Pro16858=)
c.24468T>C (p.Pro8156=)
c.24327T>C (p.Pro8109=)
c.50370T>C (p.Pro16790=)
c.45768T>C (p.Pro15256=)
c.45765T>C (p.Pro15255=)
c.42807T>C (p.Pro14269=)
c.24423T>C (p.Pro8141=)
c.45918T>C (p.Pro15306=)
c.45915T>C (p.Pro15305=)
c.45348T>C (p.Pro15116=)
c.42690T>C (p.Pro14230=)
c.42609T>C (p.Pro14203=)
c.24372T>C (p.Pro8124=)
c.14226T>C (p.Pro4742=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178609946A>TCA430272274TTN,TTN-AS1c.43773T>A (p.Pro14591=)
c.24858T>A (p.Pro8286=)
c.24657T>A (p.Pro8219=)
c.24282T>A (p.Pro8094=)
c.51477T>A (p.Pro17159=)
c.46554T>A (p.Pro15518=)
n.782+1680A>T
c.50574T>A (p.Pro16858=)
c.24468T>A (p.Pro8156=)
c.24327T>A (p.Pro8109=)
c.50370T>A (p.Pro16790=)
c.45768T>A (p.Pro15256=)
c.45765T>A (p.Pro15255=)
c.42807T>A (p.Pro14269=)
c.24423T>A (p.Pro8141=)
c.45918T>A (p.Pro15306=)
c.45915T>A (p.Pro15305=)
c.45348T>A (p.Pro15116=)
c.42690T>A (p.Pro14230=)
c.42609T>A (p.Pro14203=)
c.24372T>A (p.Pro8124=)
c.14226T>A (p.Pro4742=)
2g.178609947G>ACA349585454TTN,TTN-AS1c.43772C>T (p.Pro14591Leu)
c.24857C>T (p.Pro8286Leu)
c.24656C>T (p.Pro8219Leu)
c.24281C>T (p.Pro8094Leu)
c.51476C>T (p.Pro17159Leu)
c.46553C>T (p.Pro15518Leu)
n.782+1681G>A
c.50573C>T (p.Pro16858Leu)
c.24467C>T (p.Pro8156Leu)
c.24326C>T (p.Pro8109Leu)
c.50369C>T (p.Pro16790Leu)
c.45767C>T (p.Pro15256Leu)
c.45764C>T (p.Pro15255Leu)
c.42806C>T (p.Pro14269Leu)
c.24422C>T (p.Pro8141Leu)
c.45917C>T (p.Pro15306Leu)
c.45914C>T (p.Pro15305Leu)
c.45347C>T (p.Pro15116Leu)
c.42689C>T (p.Pro14230Leu)
c.42608C>T (p.Pro14203Leu)
c.24371C>T (p.Pro8124Leu)
c.14225C>T (p.Pro4742Leu)
 gnomAD v4 COSMIC COSMIC COSMIC
2g.178609947G>CCA349585456TTN,TTN-AS1c.43772C>G (p.Pro14591Arg)
c.24857C>G (p.Pro8286Arg)
c.24656C>G (p.Pro8219Arg)
c.24281C>G (p.Pro8094Arg)
c.51476C>G (p.Pro17159Arg)
c.46553C>G (p.Pro15518Arg)
n.782+1681G>C
c.50573C>G (p.Pro16858Arg)
c.24467C>G (p.Pro8156Arg)
c.24326C>G (p.Pro8109Arg)
c.50369C>G (p.Pro16790Arg)
c.45767C>G (p.Pro15256Arg)
c.45764C>G (p.Pro15255Arg)
c.42806C>G (p.Pro14269Arg)
c.24422C>G (p.Pro8141Arg)
c.45917C>G (p.Pro15306Arg)
c.45914C>G (p.Pro15305Arg)
c.45347C>G (p.Pro15116Arg)
c.42689C>G (p.Pro14230Arg)
c.42608C>G (p.Pro14203Arg)
c.24371C>G (p.Pro8124Arg)
c.14225C>G (p.Pro4742Arg)
 COSMIC COSMIC
2g.178609947G>TCA349585459TTN,TTN-AS1c.43772C>A (p.Pro14591His)
c.24857C>A (p.Pro8286His)
c.24656C>A (p.Pro8219His)
c.24281C>A (p.Pro8094His)
c.51476C>A (p.Pro17159His)
c.46553C>A (p.Pro15518His)
n.782+1681G>T
c.50573C>A (p.Pro16858His)
c.24467C>A (p.Pro8156His)
c.24326C>A (p.Pro8109His)
c.50369C>A (p.Pro16790His)
c.45767C>A (p.Pro15256His)
c.45764C>A (p.Pro15255His)
c.42806C>A (p.Pro14269His)
c.24422C>A (p.Pro8141His)
c.45917C>A (p.Pro15306His)
c.45914C>A (p.Pro15305His)
c.45347C>A (p.Pro15116His)
c.42689C>A (p.Pro14230His)
c.42608C>A (p.Pro14203His)
c.24371C>A (p.Pro8124His)
c.14225C>A (p.Pro4742His)
2g.178609948G>ACA349585468TTN,TTN-AS1c.43771C>T (p.Pro14591Ser)
c.24856C>T (p.Pro8286Ser)
c.24655C>T (p.Pro8219Ser)
c.24280C>T (p.Pro8094Ser)
c.51475C>T (p.Pro17159Ser)
c.46552C>T (p.Pro15518Ser)
n.782+1682G>A
c.50572C>T (p.Pro16858Ser)
c.24466C>T (p.Pro8156Ser)
c.24325C>T (p.Pro8109Ser)
c.50368C>T (p.Pro16790Ser)
c.45766C>T (p.Pro15256Ser)
c.45763C>T (p.Pro15255Ser)
c.42805C>T (p.Pro14269Ser)
c.24421C>T (p.Pro8141Ser)
c.45916C>T (p.Pro15306Ser)
c.45913C>T (p.Pro15305Ser)
c.45346C>T (p.Pro15116Ser)
c.42688C>T (p.Pro14230Ser)
c.42607C>T (p.Pro14203Ser)
c.24370C>T (p.Pro8124Ser)
c.14224C>T (p.Pro4742Ser)
 COSMIC COSMIC COSMIC COSMIC
2g.178609948G>CCA349585469TTN,TTN-AS1c.43771C>G (p.Pro14591Ala)
c.24856C>G (p.Pro8286Ala)
c.24655C>G (p.Pro8219Ala)
c.24280C>G (p.Pro8094Ala)
c.51475C>G (p.Pro17159Ala)
c.46552C>G (p.Pro15518Ala)
n.782+1682G>C
c.50572C>G (p.Pro16858Ala)
c.24466C>G (p.Pro8156Ala)
c.24325C>G (p.Pro8109Ala)
c.50368C>G (p.Pro16790Ala)
c.45766C>G (p.Pro15256Ala)
c.45763C>G (p.Pro15255Ala)
c.42805C>G (p.Pro14269Ala)
c.24421C>G (p.Pro8141Ala)
c.45916C>G (p.Pro15306Ala)
c.45913C>G (p.Pro15305Ala)
c.45346C>G (p.Pro15116Ala)
c.42688C>G (p.Pro14230Ala)
c.42607C>G (p.Pro14203Ala)
c.24370C>G (p.Pro8124Ala)
c.14224C>G (p.Pro4742Ala)
2g.178609948G>TCA349585470TTN,TTN-AS1c.43771C>A (p.Pro14591Thr)
c.24856C>A (p.Pro8286Thr)
c.24655C>A (p.Pro8219Thr)
c.24280C>A (p.Pro8094Thr)
c.51475C>A (p.Pro17159Thr)
c.46552C>A (p.Pro15518Thr)
n.782+1682G>T
c.50572C>A (p.Pro16858Thr)
c.24466C>A (p.Pro8156Thr)
c.24325C>A (p.Pro8109Thr)
c.50368C>A (p.Pro16790Thr)
c.45766C>A (p.Pro15256Thr)
c.45763C>A (p.Pro15255Thr)
c.42805C>A (p.Pro14269Thr)
c.24421C>A (p.Pro8141Thr)
c.45916C>A (p.Pro15306Thr)
c.45913C>A (p.Pro15305Thr)
c.45346C>A (p.Pro15116Thr)
c.42688C>A (p.Pro14230Thr)
c.42607C>A (p.Pro14203Thr)
c.24370C>A (p.Pro8124Thr)
c.14224C>A (p.Pro4742Thr)
 gnomAD v4
2g.178609949A=CA1310547550TTN,TTN-AS1c.43770T= (p.Asn14590=)
c.24855T= (p.Asn8285=)
c.24654T= (p.Asn8218=)
c.24279T= (p.Asn8093=)
c.51474T= (p.Asn17158=)
c.46551T= (p.Asn15517=)
n.782+1683A=
c.50571T= (p.Asn16857=)
c.24465T= (p.Asn8155=)
c.24324T= (p.Asn8108=)
c.50367T= (p.Asn16789=)
c.45765T= (p.Asn15255=)
c.45762T= (p.Asn15254=)
c.42804T= (p.Asn14268=)
c.24420T= (p.Asn8140=)
c.45915T= (p.Asn15305=)
c.45912T= (p.Asn15304=)
c.45345T= (p.Asn15115=)
c.42687T= (p.Asn14229=)
c.42606T= (p.Asn14202=)
c.24369T= (p.Asn8123=)
c.14223T= (p.Asn4741=)
2g.178609949A>CCA349585476TTN,TTN-AS1c.43770T>G (p.Asn14590Lys)
c.24855T>G (p.Asn8285Lys)
c.24654T>G (p.Asn8218Lys)
c.24279T>G (p.Asn8093Lys)
c.51474T>G (p.Asn17158Lys)
c.46551T>G (p.Asn15517Lys)
n.782+1683A>C
c.50571T>G (p.Asn16857Lys)
c.24465T>G (p.Asn8155Lys)
c.24324T>G (p.Asn8108Lys)
c.50367T>G (p.Asn16789Lys)
c.45765T>G (p.Asn15255Lys)
c.45762T>G (p.Asn15254Lys)
c.42804T>G (p.Asn14268Lys)
c.24420T>G (p.Asn8140Lys)
c.45915T>G (p.Asn15305Lys)
c.45912T>G (p.Asn15304Lys)
c.45345T>G (p.Asn15115Lys)
c.42687T>G (p.Asn14229Lys)
c.42606T>G (p.Asn14202Lys)
c.24369T>G (p.Asn8123Lys)
c.14223T>G (p.Asn4741Lys)
2g.178609949A>GCA1994181TTN,TTN-AS1c.43770T>C (p.Asn14590=)
c.24855T>C (p.Asn8285=)
c.24654T>C (p.Asn8218=)
c.24279T>C (p.Asn8093=)
c.51474T>C (p.Asn17158=)
c.46551T>C (p.Asn15517=)
n.782+1683A>G
c.50571T>C (p.Asn16857=)
c.24465T>C (p.Asn8155=)
c.24324T>C (p.Asn8108=)
c.50367T>C (p.Asn16789=)
c.45765T>C (p.Asn15255=)
c.45762T>C (p.Asn15254=)
c.42804T>C (p.Asn14268=)
c.24420T>C (p.Asn8140=)
c.45915T>C (p.Asn15305=)
c.45912T>C (p.Asn15304=)
c.45345T>C (p.Asn15115=)
c.42687T>C (p.Asn14229=)
c.42606T>C (p.Asn14202=)
c.24369T>C (p.Asn8123=)
c.14223T>C (p.Asn4741=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178609949A>TCA349585471TTN,TTN-AS1c.43770T>A (p.Asn14590Lys)
c.24855T>A (p.Asn8285Lys)
c.24654T>A (p.Asn8218Lys)
c.24279T>A (p.Asn8093Lys)
c.51474T>A (p.Asn17158Lys)
c.46551T>A (p.Asn15517Lys)
n.782+1683A>T
c.50571T>A (p.Asn16857Lys)
c.24465T>A (p.Asn8155Lys)
c.24324T>A (p.Asn8108Lys)
c.50367T>A (p.Asn16789Lys)
c.45765T>A (p.Asn15255Lys)
c.45762T>A (p.Asn15254Lys)
c.42804T>A (p.Asn14268Lys)
c.24420T>A (p.Asn8140Lys)
c.45915T>A (p.Asn15305Lys)
c.45912T>A (p.Asn15304Lys)
c.45345T>A (p.Asn15115Lys)
c.42687T>A (p.Asn14229Lys)
c.42606T>A (p.Asn14202Lys)
c.24369T>A (p.Asn8123Lys)
c.14223T>A (p.Asn4741Lys)
2g.178609950T>ACA349585477TTN,TTN-AS1c.43769A>T (p.Asn14590Ile)
c.24854A>T (p.Asn8285Ile)
c.24653A>T (p.Asn8218Ile)
c.24278A>T (p.Asn8093Ile)
c.51473A>T (p.Asn17158Ile)
c.46550A>T (p.Asn15517Ile)
n.782+1684T>A
c.50570A>T (p.Asn16857Ile)
c.24464A>T (p.Asn8155Ile)
c.24323A>T (p.Asn8108Ile)
c.50366A>T (p.Asn16789Ile)
c.45764A>T (p.Asn15255Ile)
c.45761A>T (p.Asn15254Ile)
c.42803A>T (p.Asn14268Ile)
c.24419A>T (p.Asn8140Ile)
c.45914A>T (p.Asn15305Ile)
c.45911A>T (p.Asn15304Ile)
c.45344A>T (p.Asn15115Ile)
c.42686A>T (p.Asn14229Ile)
c.42605A>T (p.Asn14202Ile)
c.24368A>T (p.Asn8123Ile)
c.14222A>T (p.Asn4741Ile)
2g.178609950T>CCA349585478TTN,TTN-AS1c.43769A>G (p.Asn14590Ser)
c.24854A>G (p.Asn8285Ser)
c.24653A>G (p.Asn8218Ser)
c.24278A>G (p.Asn8093Ser)
c.51473A>G (p.Asn17158Ser)
c.46550A>G (p.Asn15517Ser)
n.782+1684T>C
c.50570A>G (p.Asn16857Ser)
c.24464A>G (p.Asn8155Ser)
c.24323A>G (p.Asn8108Ser)
c.50366A>G (p.Asn16789Ser)
c.45764A>G (p.Asn15255Ser)
c.45761A>G (p.Asn15254Ser)
c.42803A>G (p.Asn14268Ser)
c.24419A>G (p.Asn8140Ser)
c.45914A>G (p.Asn15305Ser)
c.45911A>G (p.Asn15304Ser)
c.45344A>G (p.Asn15115Ser)
c.42686A>G (p.Asn14229Ser)
c.42605A>G (p.Asn14202Ser)
c.24368A>G (p.Asn8123Ser)
c.14222A>G (p.Asn4741Ser)
2g.178609950T>GCA349585479TTN,TTN-AS1c.43769A>C (p.Asn14590Thr)
c.24854A>C (p.Asn8285Thr)
c.24653A>C (p.Asn8218Thr)
c.24278A>C (p.Asn8093Thr)
c.51473A>C (p.Asn17158Thr)
c.46550A>C (p.Asn15517Thr)
n.782+1684T>G
c.50570A>C (p.Asn16857Thr)
c.24464A>C (p.Asn8155Thr)
c.24323A>C (p.Asn8108Thr)
c.50366A>C (p.Asn16789Thr)
c.45764A>C (p.Asn15255Thr)
c.45761A>C (p.Asn15254Thr)
c.42803A>C (p.Asn14268Thr)
c.24419A>C (p.Asn8140Thr)
c.45914A>C (p.Asn15305Thr)
c.45911A>C (p.Asn15304Thr)
c.45344A>C (p.Asn15115Thr)
c.42686A>C (p.Asn14229Thr)
c.42605A>C (p.Asn14202Thr)
c.24368A>C (p.Asn8123Thr)
c.14222A>C (p.Asn4741Thr)
2g.178609951T>ACA349585482TTN,TTN-AS1c.43768A>T (p.Asn14590Tyr)
c.24853A>T (p.Asn8285Tyr)
c.24652A>T (p.Asn8218Tyr)
c.24277A>T (p.Asn8093Tyr)
c.51472A>T (p.Asn17158Tyr)
c.46549A>T (p.Asn15517Tyr)
n.782+1685T>A
c.50569A>T (p.Asn16857Tyr)
c.24463A>T (p.Asn8155Tyr)
c.24322A>T (p.Asn8108Tyr)
c.50365A>T (p.Asn16789Tyr)
c.45763A>T (p.Asn15255Tyr)
c.45760A>T (p.Asn15254Tyr)
c.42802A>T (p.Asn14268Tyr)
c.24418A>T (p.Asn8140Tyr)
c.45913A>T (p.Asn15305Tyr)
c.45910A>T (p.Asn15304Tyr)
c.45343A>T (p.Asn15115Tyr)
c.42685A>T (p.Asn14229Tyr)
c.42604A>T (p.Asn14202Tyr)
c.24367A>T (p.Asn8123Tyr)
c.14221A>T (p.Asn4741Tyr)
2g.178609951T>CCA349585485TTN,TTN-AS1c.43768A>G (p.Asn14590Asp)
c.24853A>G (p.Asn8285Asp)
c.24652A>G (p.Asn8218Asp)
c.24277A>G (p.Asn8093Asp)
c.51472A>G (p.Asn17158Asp)
c.46549A>G (p.Asn15517Asp)
n.782+1685T>C
c.50569A>G (p.Asn16857Asp)
c.24463A>G (p.Asn8155Asp)
c.24322A>G (p.Asn8108Asp)
c.50365A>G (p.Asn16789Asp)
c.45763A>G (p.Asn15255Asp)
c.45760A>G (p.Asn15254Asp)
c.42802A>G (p.Asn14268Asp)
c.24418A>G (p.Asn8140Asp)
c.45913A>G (p.Asn15305Asp)
c.45910A>G (p.Asn15304Asp)
c.45343A>G (p.Asn15115Asp)
c.42685A>G (p.Asn14229Asp)
c.42604A>G (p.Asn14202Asp)
c.24367A>G (p.Asn8123Asp)
c.14221A>G (p.Asn4741Asp)
2g.178609951T>GCA349585489TTN,TTN-AS1c.43768A>C (p.Asn14590His)
c.24853A>C (p.Asn8285His)
c.24652A>C (p.Asn8218His)
c.24277A>C (p.Asn8093His)
c.51472A>C (p.Asn17158His)
c.46549A>C (p.Asn15517His)
n.782+1685T>G
c.50569A>C (p.Asn16857His)
c.24463A>C (p.Asn8155His)
c.24322A>C (p.Asn8108His)
c.50365A>C (p.Asn16789His)
c.45763A>C (p.Asn15255His)
c.45760A>C (p.Asn15254His)
c.42802A>C (p.Asn14268His)
c.24418A>C (p.Asn8140His)
c.45913A>C (p.Asn15305His)
c.45910A>C (p.Asn15304His)
c.45343A>C (p.Asn15115His)
c.42685A>C (p.Asn14229His)
c.42604A>C (p.Asn14202His)
c.24367A>C (p.Asn8123His)
c.14221A>C (p.Asn4741His)
2g.178609952A>CCA349585492TTN,TTN-AS1c.43767T>G (p.His14589Gln)
c.24852T>G (p.His8284Gln)
c.24651T>G (p.His8217Gln)
c.24276T>G (p.His8092Gln)
c.51471T>G (p.His17157Gln)
c.46548T>G (p.His15516Gln)
n.782+1686A>C
c.50568T>G (p.His16856Gln)
c.24462T>G (p.His8154Gln)
c.24321T>G (p.His8107Gln)
c.50364T>G (p.His16788Gln)
c.45762T>G (p.His15254Gln)
c.45759T>G (p.His15253Gln)
c.42801T>G (p.His14267Gln)
c.24417T>G (p.His8139Gln)
c.45912T>G (p.His15304Gln)
c.45909T>G (p.His15303Gln)
c.45342T>G (p.His15114Gln)
c.42684T>G (p.His14228Gln)
c.42603T>G (p.His14201Gln)
c.24366T>G (p.His8122Gln)
c.14220T>G (p.His4740Gln)
2g.178609952A>GCA430272297TTN,TTN-AS1c.43767T>C (p.His14589=)
c.24852T>C (p.His8284=)
c.24651T>C (p.His8217=)
c.24276T>C (p.His8092=)
c.51471T>C (p.His17157=)
c.46548T>C (p.His15516=)
n.782+1686A>G
c.50568T>C (p.His16856=)
c.24462T>C (p.His8154=)
c.24321T>C (p.His8107=)
c.50364T>C (p.His16788=)
c.45762T>C (p.His15254=)
c.45759T>C (p.His15253=)
c.42801T>C (p.His14267=)
c.24417T>C (p.His8139=)
c.45912T>C (p.His15304=)
c.45909T>C (p.His15303=)
c.45342T>C (p.His15114=)
c.42684T>C (p.His14228=)
c.42603T>C (p.His14201=)
c.24366T>C (p.His8122=)
c.14220T>C (p.His4740=)
 ClinVar dbSNP
2g.178609952A>TCA349585493TTN,TTN-AS1c.43767T>A (p.His14589Gln)
c.24852T>A (p.His8284Gln)
c.24651T>A (p.His8217Gln)
c.24276T>A (p.His8092Gln)
c.51471T>A (p.His17157Gln)
c.46548T>A (p.His15516Gln)
n.782+1686A>T
c.50568T>A (p.His16856Gln)
c.24462T>A (p.His8154Gln)
c.24321T>A (p.His8107Gln)
c.50364T>A (p.His16788Gln)
c.45762T>A (p.His15254Gln)
c.45759T>A (p.His15253Gln)
c.42801T>A (p.His14267Gln)
c.24417T>A (p.His8139Gln)
c.45912T>A (p.His15304Gln)
c.45909T>A (p.His15303Gln)
c.45342T>A (p.His15114Gln)
c.42684T>A (p.His14228Gln)
c.42603T>A (p.His14201Gln)
c.24366T>A (p.His8122Gln)
c.14220T>A (p.His4740Gln)
2g.178609953T>ACA349585496TTN,TTN-AS1c.43766A>T (p.His14589Leu)
c.24851A>T (p.His8284Leu)
c.24650A>T (p.His8217Leu)
c.24275A>T (p.His8092Leu)
c.51470A>T (p.His17157Leu)
c.46547A>T (p.His15516Leu)
n.782+1687T>A
c.50567A>T (p.His16856Leu)
c.24461A>T (p.His8154Leu)
c.24320A>T (p.His8107Leu)
c.50363A>T (p.His16788Leu)
c.45761A>T (p.His15254Leu)
c.45758A>T (p.His15253Leu)
c.42800A>T (p.His14267Leu)
c.24416A>T (p.His8139Leu)
c.45911A>T (p.His15304Leu)
c.45908A>T (p.His15303Leu)
c.45341A>T (p.His15114Leu)
c.42683A>T (p.His14228Leu)
c.42602A>T (p.His14201Leu)
c.24365A>T (p.His8122Leu)
c.14219A>T (p.His4740Leu)
2g.178609953T>CCA349585497TTN,TTN-AS1c.43766A>G (p.His14589Arg)
c.24851A>G (p.His8284Arg)
c.24650A>G (p.His8217Arg)
c.24275A>G (p.His8092Arg)
c.51470A>G (p.His17157Arg)
c.46547A>G (p.His15516Arg)
n.782+1687T>C
c.50567A>G (p.His16856Arg)
c.24461A>G (p.His8154Arg)
c.24320A>G (p.His8107Arg)
c.50363A>G (p.His16788Arg)
c.45761A>G (p.His15254Arg)
c.45758A>G (p.His15253Arg)
c.42800A>G (p.His14267Arg)
c.24416A>G (p.His8139Arg)
c.45911A>G (p.His15304Arg)
c.45908A>G (p.His15303Arg)
c.45341A>G (p.His15114Arg)
c.42683A>G (p.His14228Arg)
c.42602A>G (p.His14201Arg)
c.24365A>G (p.His8122Arg)
c.14219A>G (p.His4740Arg)
 gnomAD v4
2g.178609953T>GCA349585499TTN,TTN-AS1c.43766A>C (p.His14589Pro)
c.24851A>C (p.His8284Pro)
c.24650A>C (p.His8217Pro)
c.24275A>C (p.His8092Pro)
c.51470A>C (p.His17157Pro)
c.46547A>C (p.His15516Pro)
n.782+1687T>G
c.50567A>C (p.His16856Pro)
c.24461A>C (p.His8154Pro)
c.24320A>C (p.His8107Pro)
c.50363A>C (p.His16788Pro)
c.45761A>C (p.His15254Pro)
c.45758A>C (p.His15253Pro)
c.42800A>C (p.His14267Pro)
c.24416A>C (p.His8139Pro)
c.45911A>C (p.His15304Pro)
c.45908A>C (p.His15303Pro)
c.45341A>C (p.His15114Pro)
c.42683A>C (p.His14228Pro)
c.42602A>C (p.His14201Pro)
c.24365A>C (p.His8122Pro)
c.14219A>C (p.His4740Pro)
2g.178609954G>ACA349585506TTN,TTN-AS1c.43765C>T (p.His14589Tyr)
c.24850C>T (p.His8284Tyr)
c.24649C>T (p.His8217Tyr)
c.24274C>T (p.His8092Tyr)
c.51469C>T (p.His17157Tyr)
c.46546C>T (p.His15516Tyr)
n.782+1688G>A
c.50566C>T (p.His16856Tyr)
c.24460C>T (p.His8154Tyr)
c.24319C>T (p.His8107Tyr)
c.50362C>T (p.His16788Tyr)
c.45760C>T (p.His15254Tyr)
c.45757C>T (p.His15253Tyr)
c.42799C>T (p.His14267Tyr)
c.24415C>T (p.His8139Tyr)
c.45910C>T (p.His15304Tyr)
c.45907C>T (p.His15303Tyr)
c.45340C>T (p.His15114Tyr)
c.42682C>T (p.His14228Tyr)
c.42601C>T (p.His14201Tyr)
c.24364C>T (p.His8122Tyr)
c.14218C>T (p.His4740Tyr)
 gnomAD v4
2g.178609954G>CCA349585509TTN,TTN-AS1c.43765C>G (p.His14589Asp)
c.24850C>G (p.His8284Asp)
c.24649C>G (p.His8217Asp)
c.24274C>G (p.His8092Asp)
c.51469C>G (p.His17157Asp)
c.46546C>G (p.His15516Asp)
n.782+1688G>C
c.50566C>G (p.His16856Asp)
c.24460C>G (p.His8154Asp)
c.24319C>G (p.His8107Asp)
c.50362C>G (p.His16788Asp)
c.45760C>G (p.His15254Asp)
c.45757C>G (p.His15253Asp)
c.42799C>G (p.His14267Asp)
c.24415C>G (p.His8139Asp)
c.45910C>G (p.His15304Asp)
c.45907C>G (p.His15303Asp)
c.45340C>G (p.His15114Asp)
c.42682C>G (p.His14228Asp)
c.42601C>G (p.His14201Asp)
c.24364C>G (p.His8122Asp)
c.14218C>G (p.His4740Asp)
 gnomAD v4
2g.178609954G>TCA349585513TTN,TTN-AS1c.43765C>A (p.His14589Asn)
c.24850C>A (p.His8284Asn)
c.24649C>A (p.His8217Asn)
c.24274C>A (p.His8092Asn)
c.51469C>A (p.His17157Asn)
c.46546C>A (p.His15516Asn)
n.782+1688G>T
c.50566C>A (p.His16856Asn)
c.24460C>A (p.His8154Asn)
c.24319C>A (p.His8107Asn)
c.50362C>A (p.His16788Asn)
c.45760C>A (p.His15254Asn)
c.45757C>A (p.His15253Asn)
c.42799C>A (p.His14267Asn)
c.24415C>A (p.His8139Asn)
c.45910C>A (p.His15304Asn)
c.45907C>A (p.His15303Asn)
c.45340C>A (p.His15114Asn)
c.42682C>A (p.His14228Asn)
c.42601C>A (p.His14201Asn)
c.24364C>A (p.His8122Asn)
c.14218C>A (p.His4740Asn)
2g.178609955A>CCA430272303TTN,TTN-AS1c.43764T>G (p.Val14588=)
c.24849T>G (p.Val8283=)
c.24648T>G (p.Val8216=)
c.24273T>G (p.Val8091=)
c.51468T>G (p.Val17156=)
c.46545T>G (p.Val15515=)
n.782+1689A>C
c.50565T>G (p.Val16855=)
c.24459T>G (p.Val8153=)
c.24318T>G (p.Val8106=)
c.50361T>G (p.Val16787=)
c.45759T>G (p.Val15253=)
c.45756T>G (p.Val15252=)
c.42798T>G (p.Val14266=)
c.24414T>G (p.Val8138=)
c.45909T>G (p.Val15303=)
c.45906T>G (p.Val15302=)
c.45339T>G (p.Val15113=)
c.42681T>G (p.Val14227=)
c.42600T>G (p.Val14200=)
c.24363T>G (p.Val8121=)
c.14217T>G (p.Val4739=)
2g.178609955A>GCA430272304TTN,TTN-AS1c.43764T>C (p.Val14588=)
c.24849T>C (p.Val8283=)
c.24648T>C (p.Val8216=)
c.24273T>C (p.Val8091=)
c.51468T>C (p.Val17156=)
c.46545T>C (p.Val15515=)
n.782+1689A>G
c.50565T>C (p.Val16855=)
c.24459T>C (p.Val8153=)
c.24318T>C (p.Val8106=)
c.50361T>C (p.Val16787=)
c.45759T>C (p.Val15253=)
c.45756T>C (p.Val15252=)
c.42798T>C (p.Val14266=)
c.24414T>C (p.Val8138=)
c.45909T>C (p.Val15303=)
c.45906T>C (p.Val15302=)
c.45339T>C (p.Val15113=)
c.42681T>C (p.Val14227=)
c.42600T>C (p.Val14200=)
c.24363T>C (p.Val8121=)
c.14217T>C (p.Val4739=)
2g.178609955A>TCA430272305TTN,TTN-AS1c.43764T>A (p.Val14588=)
c.24849T>A (p.Val8283=)
c.24648T>A (p.Val8216=)
c.24273T>A (p.Val8091=)
c.51468T>A (p.Val17156=)
c.46545T>A (p.Val15515=)
n.782+1689A>T
c.50565T>A (p.Val16855=)
c.24459T>A (p.Val8153=)
c.24318T>A (p.Val8106=)
c.50361T>A (p.Val16787=)
c.45759T>A (p.Val15253=)
c.45756T>A (p.Val15252=)
c.42798T>A (p.Val14266=)
c.24414T>A (p.Val8138=)
c.45909T>A (p.Val15303=)
c.45906T>A (p.Val15302=)
c.45339T>A (p.Val15113=)
c.42681T>A (p.Val14227=)
c.42600T>A (p.Val14200=)
c.24363T>A (p.Val8121=)
c.14217T>A (p.Val4739=)
2g.178609956A=CA1310547551TTN,TTN-AS1c.43763T= (p.Val14588=)
c.24848T= (p.Val8283=)
c.24647T= (p.Val8216=)
c.24272T= (p.Val8091=)
c.51467T= (p.Val17156=)
c.46544T= (p.Val15515=)
n.782+1690A=
c.50564T= (p.Val16855=)
c.24458T= (p.Val8153=)
c.24317T= (p.Val8106=)
c.50360T= (p.Val16787=)
c.45758T= (p.Val15253=)
c.45755T= (p.Val15252=)
c.42797T= (p.Val14266=)
c.24413T= (p.Val8138=)
c.45908T= (p.Val15303=)
c.45905T= (p.Val15302=)
c.45338T= (p.Val15113=)
c.42680T= (p.Val14227=)
c.42599T= (p.Val14200=)
c.24362T= (p.Val8121=)
c.14216T= (p.Val4739=)
2g.178609956A>CCA349585515TTN,TTN-AS1c.43763T>G (p.Val14588Gly)
c.24848T>G (p.Val8283Gly)
c.24647T>G (p.Val8216Gly)
c.24272T>G (p.Val8091Gly)
c.51467T>G (p.Val17156Gly)
c.46544T>G (p.Val15515Gly)
n.782+1690A>C
c.50564T>G (p.Val16855Gly)
c.24458T>G (p.Val8153Gly)
c.24317T>G (p.Val8106Gly)
c.50360T>G (p.Val16787Gly)
c.45758T>G (p.Val15253Gly)
c.45755T>G (p.Val15252Gly)
c.42797T>G (p.Val14266Gly)
c.24413T>G (p.Val8138Gly)
c.45908T>G (p.Val15303Gly)
c.45905T>G (p.Val15302Gly)
c.45338T>G (p.Val15113Gly)
c.42680T>G (p.Val14227Gly)
c.42599T>G (p.Val14200Gly)
c.24362T>G (p.Val8121Gly)
c.14216T>G (p.Val4739Gly)
2g.178609956A>GCA349585516TTN,TTN-AS1c.43763T>C (p.Val14588Ala)
c.24848T>C (p.Val8283Ala)
c.24647T>C (p.Val8216Ala)
c.24272T>C (p.Val8091Ala)
c.51467T>C (p.Val17156Ala)
c.46544T>C (p.Val15515Ala)
n.782+1690A>G
c.50564T>C (p.Val16855Ala)
c.24458T>C (p.Val8153Ala)
c.24317T>C (p.Val8106Ala)
c.50360T>C (p.Val16787Ala)
c.45758T>C (p.Val15253Ala)
c.45755T>C (p.Val15252Ala)
c.42797T>C (p.Val14266Ala)
c.24413T>C (p.Val8138Ala)
c.45908T>C (p.Val15303Ala)
c.45905T>C (p.Val15302Ala)
c.45338T>C (p.Val15113Ala)
c.42680T>C (p.Val14227Ala)
c.42599T>C (p.Val14200Ala)
c.24362T>C (p.Val8121Ala)
c.14216T>C (p.Val4739Ala)
2g.178609956A>TCA349585514TTN,TTN-AS1c.43763T>A (p.Val14588Asp)
c.24848T>A (p.Val8283Asp)
c.24647T>A (p.Val8216Asp)
c.24272T>A (p.Val8091Asp)
c.51467T>A (p.Val17156Asp)
c.46544T>A (p.Val15515Asp)
n.782+1690A>T
c.50564T>A (p.Val16855Asp)
c.24458T>A (p.Val8153Asp)
c.24317T>A (p.Val8106Asp)
c.50360T>A (p.Val16787Asp)
c.45758T>A (p.Val15253Asp)
c.45755T>A (p.Val15252Asp)
c.42797T>A (p.Val14266Asp)
c.24413T>A (p.Val8138Asp)
c.45908T>A (p.Val15303Asp)
c.45905T>A (p.Val15302Asp)
c.45338T>A (p.Val15113Asp)
c.42680T>A (p.Val14227Asp)
c.42599T>A (p.Val14200Asp)
c.24362T>A (p.Val8121Asp)
c.14216T>A (p.Val4739Asp)
 dbSNP
2g.178609957C>ACA349585517TTN,TTN-AS1c.43762G>T (p.Val14588Phe)
c.24847G>T (p.Val8283Phe)
c.24646G>T (p.Val8216Phe)
c.24271G>T (p.Val8091Phe)
c.51466G>T (p.Val17156Phe)
c.46543G>T (p.Val15515Phe)
n.782+1691C>A
c.50563G>T (p.Val16855Phe)
c.24457G>T (p.Val8153Phe)
c.24316G>T (p.Val8106Phe)
c.50359G>T (p.Val16787Phe)
c.45757G>T (p.Val15253Phe)
c.45754G>T (p.Val15252Phe)
c.42796G>T (p.Val14266Phe)
c.24412G>T (p.Val8138Phe)
c.45907G>T (p.Val15303Phe)
c.45904G>T (p.Val15302Phe)
c.45337G>T (p.Val15113Phe)
c.42679G>T (p.Val14227Phe)
c.42598G>T (p.Val14200Phe)
c.24361G>T (p.Val8121Phe)
c.14215G>T (p.Val4739Phe)
2g.178609957C=CA1310547552TTN,TTN-AS1c.43762G= (p.Val14588=)
c.24847G= (p.Val8283=)
c.24646G= (p.Val8216=)
c.24271G= (p.Val8091=)
c.51466G= (p.Val17156=)
c.46543G= (p.Val15515=)
n.782+1691C=
c.50563G= (p.Val16855=)
c.24457G= (p.Val8153=)
c.24316G= (p.Val8106=)
c.50359G= (p.Val16787=)
c.45757G= (p.Val15253=)
c.45754G= (p.Val15252=)
c.42796G= (p.Val14266=)
c.24412G= (p.Val8138=)
c.45907G= (p.Val15303=)
c.45904G= (p.Val15302=)
c.45337G= (p.Val15113=)
c.42679G= (p.Val14227=)
c.42598G= (p.Val14200=)
c.24361G= (p.Val8121=)
c.14215G= (p.Val4739=)
2g.178609957C>GCA349585521TTN,TTN-AS1c.43762G>C (p.Val14588Leu)
c.24847G>C (p.Val8283Leu)
c.24646G>C (p.Val8216Leu)
c.24271G>C (p.Val8091Leu)
c.51466G>C (p.Val17156Leu)
c.46543G>C (p.Val15515Leu)
n.782+1691C>G
c.50563G>C (p.Val16855Leu)
c.24457G>C (p.Val8153Leu)
c.24316G>C (p.Val8106Leu)
c.50359G>C (p.Val16787Leu)
c.45757G>C (p.Val15253Leu)
c.45754G>C (p.Val15252Leu)
c.42796G>C (p.Val14266Leu)
c.24412G>C (p.Val8138Leu)
c.45907G>C (p.Val15303Leu)
c.45904G>C (p.Val15302Leu)
c.45337G>C (p.Val15113Leu)
c.42679G>C (p.Val14227Leu)
c.42598G>C (p.Val14200Leu)
c.24361G>C (p.Val8121Leu)
c.14215G>C (p.Val4739Leu)
2g.178609957C>TCA1994182TTN,TTN-AS1c.43762G>A (p.Val14588Ile)
c.24847G>A (p.Val8283Ile)
c.24646G>A (p.Val8216Ile)
c.24271G>A (p.Val8091Ile)
c.51466G>A (p.Val17156Ile)
c.46543G>A (p.Val15515Ile)
n.782+1691C>T
c.50563G>A (p.Val16855Ile)
c.24457G>A (p.Val8153Ile)
c.24316G>A (p.Val8106Ile)
c.50359G>A (p.Val16787Ile)
c.45757G>A (p.Val15253Ile)
c.45754G>A (p.Val15252Ile)
c.42796G>A (p.Val14266Ile)
c.24412G>A (p.Val8138Ile)
c.45907G>A (p.Val15303Ile)
c.45904G>A (p.Val15302Ile)
c.45337G>A (p.Val15113Ile)
c.42679G>A (p.Val14227Ile)
c.42598G>A (p.Val14200Ile)
c.24361G>A (p.Val8121Ile)
c.14215G>A (p.Val4739Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178609958C>ACA349585531TTN,TTN-AS1c.43761G>T (p.Glu14587Asp)
c.24846G>T (p.Glu8282Asp)
c.24645G>T (p.Glu8215Asp)
c.24270G>T (p.Glu8090Asp)
c.51465G>T (p.Glu17155Asp)
c.46542G>T (p.Glu15514Asp)
n.782+1692C>A
c.50562G>T (p.Glu16854Asp)
c.24456G>T (p.Glu8152Asp)
c.24315G>T (p.Glu8105Asp)
c.50358G>T (p.Glu16786Asp)
c.45756G>T (p.Glu15252Asp)
c.45753G>T (p.Glu15251Asp)
c.42795G>T (p.Glu14265Asp)
c.24411G>T (p.Glu8137Asp)
c.45906G>T (p.Glu15302Asp)
c.45903G>T (p.Glu15301Asp)
c.45336G>T (p.Glu15112Asp)
c.42678G>T (p.Glu14226Asp)
c.42597G>T (p.Glu14199Asp)
c.24360G>T (p.Glu8120Asp)
c.14214G>T (p.Glu4738Asp)
2g.178609958C>GCA349585536TTN,TTN-AS1c.43761G>C (p.Glu14587Asp)
c.24846G>C (p.Glu8282Asp)
c.24645G>C (p.Glu8215Asp)
c.24270G>C (p.Glu8090Asp)
c.51465G>C (p.Glu17155Asp)
c.46542G>C (p.Glu15514Asp)
n.782+1692C>G
c.50562G>C (p.Glu16854Asp)
c.24456G>C (p.Glu8152Asp)
c.24315G>C (p.Glu8105Asp)
c.50358G>C (p.Glu16786Asp)
c.45756G>C (p.Glu15252Asp)
c.45753G>C (p.Glu15251Asp)
c.42795G>C (p.Glu14265Asp)
c.24411G>C (p.Glu8137Asp)
c.45906G>C (p.Glu15302Asp)
c.45903G>C (p.Glu15301Asp)
c.45336G>C (p.Glu15112Asp)
c.42678G>C (p.Glu14226Asp)
c.42597G>C (p.Glu14199Asp)
c.24360G>C (p.Glu8120Asp)
c.14214G>C (p.Glu4738Asp)
2g.178609958C>TCA430272315TTN,TTN-AS1c.43761G>A (p.Glu14587=)
c.24846G>A (p.Glu8282=)
c.24645G>A (p.Glu8215=)
c.24270G>A (p.Glu8090=)
c.51465G>A (p.Glu17155=)
c.46542G>A (p.Glu15514=)
n.782+1692C>T
c.50562G>A (p.Glu16854=)
c.24456G>A (p.Glu8152=)
c.24315G>A (p.Glu8105=)
c.50358G>A (p.Glu16786=)
c.45756G>A (p.Glu15252=)
c.45753G>A (p.Glu15251=)
c.42795G>A (p.Glu14265=)
c.24411G>A (p.Glu8137=)
c.45906G>A (p.Glu15302=)
c.45903G>A (p.Glu15301=)
c.45336G>A (p.Glu15112=)
c.42678G>A (p.Glu14226=)
c.42597G>A (p.Glu14199=)
c.24360G>A (p.Glu8120=)
c.14214G>A (p.Glu4738=)
2g.178609959T>ACA349585539TTN,TTN-AS1c.43760A>T (p.Glu14587Val)
c.24845A>T (p.Glu8282Val)
c.24644A>T (p.Glu8215Val)
c.24269A>T (p.Glu8090Val)
c.51464A>T (p.Glu17155Val)
c.46541A>T (p.Glu15514Val)
n.782+1693T>A
c.50561A>T (p.Glu16854Val)
c.24455A>T (p.Glu8152Val)
c.24314A>T (p.Glu8105Val)
c.50357A>T (p.Glu16786Val)
c.45755A>T (p.Glu15252Val)
c.45752A>T (p.Glu15251Val)
c.42794A>T (p.Glu14265Val)
c.24410A>T (p.Glu8137Val)
c.45905A>T (p.Glu15302Val)
c.45902A>T (p.Glu15301Val)
c.45335A>T (p.Glu15112Val)
c.42677A>T (p.Glu14226Val)
c.42596A>T (p.Glu14199Val)
c.24359A>T (p.Glu8120Val)
c.14213A>T (p.Glu4738Val)
 gnomAD v4
2g.178609959T>CCA60983903TTN,TTN-AS1c.43760A>G (p.Glu14587Gly)
c.24845A>G (p.Glu8282Gly)
c.24644A>G (p.Glu8215Gly)
c.24269A>G (p.Glu8090Gly)
c.51464A>G (p.Glu17155Gly)
c.46541A>G (p.Glu15514Gly)
n.782+1693T>C
c.50561A>G (p.Glu16854Gly)
c.24455A>G (p.Glu8152Gly)
c.24314A>G (p.Glu8105Gly)
c.50357A>G (p.Glu16786Gly)
c.45755A>G (p.Glu15252Gly)
c.45752A>G (p.Glu15251Gly)
c.42794A>G (p.Glu14265Gly)
c.24410A>G (p.Glu8137Gly)
c.45905A>G (p.Glu15302Gly)
c.45902A>G (p.Glu15301Gly)
c.45335A>G (p.Glu15112Gly)
c.42677A>G (p.Glu14226Gly)
c.42596A>G (p.Glu14199Gly)
c.24359A>G (p.Glu8120Gly)
c.14213A>G (p.Glu4738Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.178609959T>GCA349585540TTN,TTN-AS1c.43760A>C (p.Glu14587Ala)
c.24845A>C (p.Glu8282Ala)
c.24644A>C (p.Glu8215Ala)
c.24269A>C (p.Glu8090Ala)
c.51464A>C (p.Glu17155Ala)
c.46541A>C (p.Glu15514Ala)
n.782+1693T>G
c.50561A>C (p.Glu16854Ala)
c.24455A>C (p.Glu8152Ala)
c.24314A>C (p.Glu8105Ala)
c.50357A>C (p.Glu16786Ala)
c.45755A>C (p.Glu15252Ala)
c.45752A>C (p.Glu15251Ala)
c.42794A>C (p.Glu14265Ala)
c.24410A>C (p.Glu8137Ala)
c.45905A>C (p.Glu15302Ala)
c.45902A>C (p.Glu15301Ala)
c.45335A>C (p.Glu15112Ala)
c.42677A>C (p.Glu14226Ala)
c.42596A>C (p.Glu14199Ala)
c.24359A>C (p.Glu8120Ala)
c.14213A>C (p.Glu4738Ala)
2g.178609959T=CA1310547553TTN,TTN-AS1c.43760A= (p.Glu14587=)
c.24845A= (p.Glu8282=)
c.24644A= (p.Glu8215=)
c.24269A= (p.Glu8090=)
c.51464A= (p.Glu17155=)
c.46541A= (p.Glu15514=)
n.782+1693T=
c.50561A= (p.Glu16854=)
c.24455A= (p.Glu8152=)
c.24314A= (p.Glu8105=)
c.50357A= (p.Glu16786=)
c.45755A= (p.Glu15252=)
c.45752A= (p.Glu15251=)
c.42794A= (p.Glu14265=)
c.24410A= (p.Glu8137=)
c.45905A= (p.Glu15302=)
c.45902A= (p.Glu15301=)
c.45335A= (p.Glu15112=)
c.42677A= (p.Glu14226=)
c.42596A= (p.Glu14199=)
c.24359A= (p.Glu8120=)
c.14213A= (p.Glu4738=)
2g.178609960C>ACA349585542TTN,TTN-AS1c.43759G>T (p.Glu14587Ter)
c.24844G>T (p.Glu8282Ter)
c.24643G>T (p.Glu8215Ter)
c.24268G>T (p.Glu8090Ter)
c.51463G>T (p.Glu17155Ter)
c.46540G>T (p.Glu15514Ter)
n.782+1694C>A
c.50560G>T (p.Glu16854Ter)
c.24454G>T (p.Glu8152Ter)
c.24313G>T (p.Glu8105Ter)
c.50356G>T (p.Glu16786Ter)
c.45754G>T (p.Glu15252Ter)
c.45751G>T (p.Glu15251Ter)
c.42793G>T (p.Glu14265Ter)
c.24409G>T (p.Glu8137Ter)
c.45904G>T (p.Glu15302Ter)
c.45901G>T (p.Glu15301Ter)
c.45334G>T (p.Glu15112Ter)
c.42676G>T (p.Glu14226Ter)
c.42595G>T (p.Glu14199Ter)
c.24358G>T (p.Glu8120Ter)
c.14212G>T (p.Glu4738Ter)
2g.178609960C=CA1310547555TTN,TTN-AS1c.43759G= (p.Glu14587=)
c.24844G= (p.Glu8282=)
c.24643G= (p.Glu8215=)
c.24268G= (p.Glu8090=)
c.51463G= (p.Glu17155=)
c.46540G= (p.Glu15514=)
n.782+1694C=
c.50560G= (p.Glu16854=)
c.24454G= (p.Glu8152=)
c.24313G= (p.Glu8105=)
c.50356G= (p.Glu16786=)
c.45754G= (p.Glu15252=)
c.45751G= (p.Glu15251=)
c.42793G= (p.Glu14265=)
c.24409G= (p.Glu8137=)
c.45904G= (p.Glu15302=)
c.45901G= (p.Glu15301=)
c.45334G= (p.Glu15112=)
c.42676G= (p.Glu14226=)
c.42595G= (p.Glu14199=)
c.24358G= (p.Glu8120=)
c.14212G= (p.Glu4738=)
2g.178609960C>GCA60983906TTN,TTN-AS1c.43759G>C (p.Glu14587Gln)
c.24844G>C (p.Glu8282Gln)
c.24643G>C (p.Glu8215Gln)
c.24268G>C (p.Glu8090Gln)
c.51463G>C (p.Glu17155Gln)
c.46540G>C (p.Glu15514Gln)
n.782+1694C>G
c.50560G>C (p.Glu16854Gln)
c.24454G>C (p.Glu8152Gln)
c.24313G>C (p.Glu8105Gln)
c.50356G>C (p.Glu16786Gln)
c.45754G>C (p.Glu15252Gln)
c.45751G>C (p.Glu15251Gln)
c.42793G>C (p.Glu14265Gln)
c.24409G>C (p.Glu8137Gln)
c.45904G>C (p.Glu15302Gln)
c.45901G>C (p.Glu15301Gln)
c.45334G>C (p.Glu15112Gln)
c.42676G>C (p.Glu14226Gln)
c.42595G>C (p.Glu14199Gln)
c.24358G>C (p.Glu8120Gln)
c.14212G>C (p.Glu4738Gln)
 dbSNP
2g.178609960C>TCA349585549TTN,TTN-AS1c.43759G>A (p.Glu14587Lys)
c.24844G>A (p.Glu8282Lys)
c.24643G>A (p.Glu8215Lys)
c.24268G>A (p.Glu8090Lys)
c.51463G>A (p.Glu17155Lys)
c.46540G>A (p.Glu15514Lys)
n.782+1694C>T
c.50560G>A (p.Glu16854Lys)
c.24454G>A (p.Glu8152Lys)
c.24313G>A (p.Glu8105Lys)
c.50356G>A (p.Glu16786Lys)
c.45754G>A (p.Glu15252Lys)
c.45751G>A (p.Glu15251Lys)
c.42793G>A (p.Glu14265Lys)
c.24409G>A (p.Glu8137Lys)
c.45904G>A (p.Glu15302Lys)
c.45901G>A (p.Glu15301Lys)
c.45334G>A (p.Glu15112Lys)
c.42676G>A (p.Glu14226Lys)
c.42595G>A (p.Glu14199Lys)
c.24358G>A (p.Glu8120Lys)
c.14212G>A (p.Glu4738Lys)
2g.178609960_178609964delinsCTACACA1310547554TTN,TTN-AS1c.43755_43759delinsTGTAG (p.Asp14585=)
c.24840_24844delinsTGTAG (p.Asp8280=)
c.24639_24643delinsTGTAG (p.Asp8213=)
c.24264_24268delinsTGTAG (p.Asp8088=)
c.51459_51463delinsTGTAG (p.Asp17153=)
c.46536_46540delinsTGTAG (p.Asp15512=)
n.782+1694_782+1698delinsCTACA
c.50556_50560delinsTGTAG (p.Asp16852=)
c.24450_24454delinsTGTAG (p.Asp8150=)
c.24309_24313delinsTGTAG (p.Asp8103=)
c.50352_50356delinsTGTAG (p.Asp16784=)
c.45750_45754delinsTGTAG (p.Asp15250=)
c.45747_45751delinsTGTAG (p.Asp15249=)
c.42789_42793delinsTGTAG (p.Asp14263=)
c.24405_24409delinsTGTAG (p.Asp8135=)
c.45900_45904delinsTGTAG (p.Asp15300=)
c.45897_45901delinsTGTAG (p.Asp15299=)
c.45330_45334delinsTGTAG (p.Asp15110=)
c.42672_42676delinsTGTAG (p.Asp14224=)
c.42591_42595delinsTGTAG (p.Asp14197=)
c.24354_24358delinsTGTAG (p.Asp8118=)
c.14208_14212delinsTGTAG (p.Asp4736=)
2g.178609961T>ACA430272322TTN,TTN-AS1c.43758A>T (p.Val14586=)
c.24843A>T (p.Val8281=)
c.24642A>T (p.Val8214=)
c.24267A>T (p.Val8089=)
c.51462A>T (p.Val17154=)
c.46539A>T (p.Val15513=)
n.782+1695T>A
c.50559A>T (p.Val16853=)
c.24453A>T (p.Val8151=)
c.24312A>T (p.Val8104=)
c.50355A>T (p.Val16785=)
c.45753A>T (p.Val15251=)
c.45750A>T (p.Val15250=)
c.42792A>T (p.Val14264=)
c.24408A>T (p.Val8136=)
c.45903A>T (p.Val15301=)
c.45900A>T (p.Val15300=)
c.45333A>T (p.Val15111=)
c.42675A>T (p.Val14225=)
c.42594A>T (p.Val14198=)
c.24357A>T (p.Val8119=)
c.14211A>T (p.Val4737=)
2g.178609961T>CCA430272324TTN,TTN-AS1c.43758A>G (p.Val14586=)
c.24843A>G (p.Val8281=)
c.24642A>G (p.Val8214=)
c.24267A>G (p.Val8089=)
c.51462A>G (p.Val17154=)
c.46539A>G (p.Val15513=)
n.782+1695T>C
c.50559A>G (p.Val16853=)
c.24453A>G (p.Val8151=)
c.24312A>G (p.Val8104=)
c.50355A>G (p.Val16785=)
c.45753A>G (p.Val15251=)
c.45750A>G (p.Val15250=)
c.42792A>G (p.Val14264=)
c.24408A>G (p.Val8136=)
c.45903A>G (p.Val15301=)
c.45900A>G (p.Val15300=)
c.45333A>G (p.Val15111=)
c.42675A>G (p.Val14225=)
c.42594A>G (p.Val14198=)
c.24357A>G (p.Val8119=)
c.14211A>G (p.Val4737=)
2g.178609961T>GCA430272326TTN,TTN-AS1c.43758A>C (p.Val14586=)
c.24843A>C (p.Val8281=)
c.24642A>C (p.Val8214=)
c.24267A>C (p.Val8089=)
c.51462A>C (p.Val17154=)
c.46539A>C (p.Val15513=)
n.782+1695T>G
c.50559A>C (p.Val16853=)
c.24453A>C (p.Val8151=)
c.24312A>C (p.Val8104=)
c.50355A>C (p.Val16785=)
c.45753A>C (p.Val15251=)
c.45750A>C (p.Val15250=)
c.42792A>C (p.Val14264=)
c.24408A>C (p.Val8136=)
c.45903A>C (p.Val15301=)
c.45900A>C (p.Val15300=)
c.45333A>C (p.Val15111=)
c.42675A>C (p.Val14225=)
c.42594A>C (p.Val14198=)
c.24357A>C (p.Val8119=)
c.14211A>C (p.Val4737=)
2g.178609962_178609965delCA10605859TTN,TTN-AS1c.43755_43758del (p.Asp14585GlufsTer11)
c.24840_24843del (p.Asp8280GlufsTer11)
c.24639_24642del (p.Asp8213GlufsTer11)
c.24264_24267del (p.Asp8088GlufsTer11)
c.51459_51462del (p.Asp17153GlufsTer11)
c.46536_46539del (p.Asp15512GlufsTer11)
n.782+1696_782+1699del
c.50556_50559del (p.Asp16852GlufsTer11)
c.24450_24453del (p.Asp8150GlufsTer11)
c.24309_24312del (p.Asp8103GlufsTer11)
c.50352_50355del (p.Asp16784GlufsTer11)
c.45750_45753del (p.Asp15250GlufsTer11)
c.45747_45750del (p.Asp15249GlufsTer11)
c.42789_42792del (p.Asp14263GlufsTer11)
c.24405_24408del (p.Asp8135GlufsTer11)
c.45900_45903del (p.Asp15300GlufsTer11)
c.45897_45900del (p.Asp15299GlufsTer11)
c.45330_45333del (p.Asp15110GlufsTer11)
c.42672_42675del (p.Asp14224GlufsTer11)
c.42591_42594del (p.Asp14197GlufsTer11)
c.24354_24357del (p.Asp8118GlufsTer11)
c.14208_14211del (p.Asp4736GlufsTer11)
 ClinVar dbSNP gnomAD v4
2g.178609962A=CA1310547556TTN,TTN-AS1c.43757T= (p.Val14586=)
c.24842T= (p.Val8281=)
c.24641T= (p.Val8214=)
c.24266T= (p.Val8089=)
c.51461T= (p.Val17154=)
c.46538T= (p.Val15513=)
n.782+1696A=
c.50558T= (p.Val16853=)
c.24452T= (p.Val8151=)
c.24311T= (p.Val8104=)
c.50354T= (p.Val16785=)
c.45752T= (p.Val15251=)
c.45749T= (p.Val15250=)
c.42791T= (p.Val14264=)
c.24407T= (p.Val8136=)
c.45902T= (p.Val15301=)
c.45899T= (p.Val15300=)
c.45332T= (p.Val15111=)
c.42674T= (p.Val14225=)
c.42593T= (p.Val14198=)
c.24356T= (p.Val8119=)
c.14210T= (p.Val4737=)
2g.178609962A>CCA349585565TTN,TTN-AS1c.43757T>G (p.Val14586Gly)
c.24842T>G (p.Val8281Gly)
c.24641T>G (p.Val8214Gly)
c.24266T>G (p.Val8089Gly)
c.51461T>G (p.Val17154Gly)
c.46538T>G (p.Val15513Gly)
n.782+1696A>C
c.50558T>G (p.Val16853Gly)
c.24452T>G (p.Val8151Gly)
c.24311T>G (p.Val8104Gly)
c.50354T>G (p.Val16785Gly)
c.45752T>G (p.Val15251Gly)
c.45749T>G (p.Val15250Gly)
c.42791T>G (p.Val14264Gly)
c.24407T>G (p.Val8136Gly)
c.45902T>G (p.Val15301Gly)
c.45899T>G (p.Val15300Gly)
c.45332T>G (p.Val15111Gly)
c.42674T>G (p.Val14225Gly)
c.42593T>G (p.Val14198Gly)
c.24356T>G (p.Val8119Gly)
c.14210T>G (p.Val4737Gly)
2g.178609962A>GCA1994183TTN,TTN-AS1c.43757T>C (p.Val14586Ala)
c.24842T>C (p.Val8281Ala)
c.24641T>C (p.Val8214Ala)
c.24266T>C (p.Val8089Ala)
c.51461T>C (p.Val17154Ala)
c.46538T>C (p.Val15513Ala)
n.782+1696A>G
c.50558T>C (p.Val16853Ala)
c.24452T>C (p.Val8151Ala)
c.24311T>C (p.Val8104Ala)
c.50354T>C (p.Val16785Ala)
c.45752T>C (p.Val15251Ala)
c.45749T>C (p.Val15250Ala)
c.42791T>C (p.Val14264Ala)
c.24407T>C (p.Val8136Ala)
c.45902T>C (p.Val15301Ala)
c.45899T>C (p.Val15300Ala)
c.45332T>C (p.Val15111Ala)
c.42674T>C (p.Val14225Ala)
c.42593T>C (p.Val14198Ala)
c.24356T>C (p.Val8119Ala)
c.14210T>C (p.Val4737Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178609962A>TCA349585560TTN,TTN-AS1c.43757T>A (p.Val14586Glu)
c.24842T>A (p.Val8281Glu)
c.24641T>A (p.Val8214Glu)
c.24266T>A (p.Val8089Glu)
c.51461T>A (p.Val17154Glu)
c.46538T>A (p.Val15513Glu)
n.782+1696A>T
c.50558T>A (p.Val16853Glu)
c.24452T>A (p.Val8151Glu)
c.24311T>A (p.Val8104Glu)
c.50354T>A (p.Val16785Glu)
c.45752T>A (p.Val15251Glu)
c.45749T>A (p.Val15250Glu)
c.42791T>A (p.Val14264Glu)
c.24407T>A (p.Val8136Glu)
c.45902T>A (p.Val15301Glu)
c.45899T>A (p.Val15300Glu)
c.45332T>A (p.Val15111Glu)
c.42674T>A (p.Val14225Glu)
c.42593T>A (p.Val14198Glu)
c.24356T>A (p.Val8119Glu)
c.14210T>A (p.Val4737Glu)
2g.178609962_178609963insTGATGTAGCCCATTATCTTGCTCA1310547557TTN,TTN-AS1c.43756_43757insAGCAAGATAATGGGCTACATCA (p.Val14586GlufsTer12)
c.24841_24842insAGCAAGATAATGGGCTACATCA (p.Val8281GlufsTer12)
c.24640_24641insAGCAAGATAATGGGCTACATCA (p.Val8214GlufsTer12)
c.24265_24266insAGCAAGATAATGGGCTACATCA (p.Val8089GlufsTer12)
c.51460_51461insAGCAAGATAATGGGCTACATCA (p.Val17154GlufsTer12)
c.46537_46538insAGCAAGATAATGGGCTACATCA (p.Val15513GlufsTer12)
n.782+1696_782+1697insTGATGTAGCCCATTATCTTGCT
c.50557_50558insAGCAAGATAATGGGCTACATCA (p.Val16853GlufsTer12)
c.24451_24452insAGCAAGATAATGGGCTACATCA (p.Val8151GlufsTer12)
c.24310_24311insAGCAAGATAATGGGCTACATCA (p.Val8104GlufsTer12)
c.50353_50354insAGCAAGATAATGGGCTACATCA (p.Val16785GlufsTer12)
c.45751_45752insAGCAAGATAATGGGCTACATCA (p.Val15251GlufsTer12)
c.45748_45749insAGCAAGATAATGGGCTACATCA (p.Val15250GlufsTer12)
c.42790_42791insAGCAAGATAATGGGCTACATCA (p.Val14264GlufsTer12)
c.24406_24407insAGCAAGATAATGGGCTACATCA (p.Val8136GlufsTer12)
c.45901_45902insAGCAAGATAATGGGCTACATCA (p.Val15301GlufsTer12)
c.45898_45899insAGCAAGATAATGGGCTACATCA (p.Val15300GlufsTer12)
c.45331_45332insAGCAAGATAATGGGCTACATCA (p.Val15111GlufsTer12)
c.42673_42674insAGCAAGATAATGGGCTACATCA (p.Val14225GlufsTer12)
c.42592_42593insAGCAAGATAATGGGCTACATCA (p.Val14198GlufsTer12)
c.24355_24356insAGCAAGATAATGGGCTACATCA (p.Val8119GlufsTer12)
c.14209_14210insAGCAAGATAATGGGCTACATCA (p.Val4737GlufsTer12)
 dbSNP
2g.178609963C>ACA349585569TTN,TTN-AS1c.43756G>T (p.Val14586Leu)
c.24841G>T (p.Val8281Leu)
c.24640G>T (p.Val8214Leu)
c.24265G>T (p.Val8089Leu)
c.51460G>T (p.Val17154Leu)
c.46537G>T (p.Val15513Leu)
n.782+1697C>A
c.50557G>T (p.Val16853Leu)
c.24451G>T (p.Val8151Leu)
c.24310G>T (p.Val8104Leu)
c.50353G>T (p.Val16785Leu)
c.45751G>T (p.Val15251Leu)
c.45748G>T (p.Val15250Leu)
c.42790G>T (p.Val14264Leu)
c.24406G>T (p.Val8136Leu)
c.45901G>T (p.Val15301Leu)
c.45898G>T (p.Val15300Leu)
c.45331G>T (p.Val15111Leu)
c.42673G>T (p.Val14225Leu)
c.42592G>T (p.Val14198Leu)
c.24355G>T (p.Val8119Leu)
c.14209G>T (p.Val4737Leu)
2g.178609963C=CA1310547558TTN,TTN-AS1c.43756G= (p.Val14586=)
c.24841G= (p.Val8281=)
c.24640G= (p.Val8214=)
c.24265G= (p.Val8089=)
c.51460G= (p.Val17154=)
c.46537G= (p.Val15513=)
n.782+1697C=
c.50557G= (p.Val16853=)
c.24451G= (p.Val8151=)
c.24310G= (p.Val8104=)
c.50353G= (p.Val16785=)
c.45751G= (p.Val15251=)
c.45748G= (p.Val15250=)
c.42790G= (p.Val14264=)
c.24406G= (p.Val8136=)
c.45901G= (p.Val15301=)
c.45898G= (p.Val15300=)
c.45331G= (p.Val15111=)
c.42673G= (p.Val14225=)
c.42592G= (p.Val14198=)
c.24355G= (p.Val8119=)
c.14209G= (p.Val4737=)
2g.178609963C>GCA349585573TTN,TTN-AS1c.43756G>C (p.Val14586Leu)
c.24841G>C (p.Val8281Leu)
c.24640G>C (p.Val8214Leu)
c.24265G>C (p.Val8089Leu)
c.51460G>C (p.Val17154Leu)
c.46537G>C (p.Val15513Leu)
n.782+1697C>G
c.50557G>C (p.Val16853Leu)
c.24451G>C (p.Val8151Leu)
c.24310G>C (p.Val8104Leu)
c.50353G>C (p.Val16785Leu)
c.45751G>C (p.Val15251Leu)
c.45748G>C (p.Val15250Leu)
c.42790G>C (p.Val14264Leu)
c.24406G>C (p.Val8136Leu)
c.45901G>C (p.Val15301Leu)
c.45898G>C (p.Val15300Leu)
c.45331G>C (p.Val15111Leu)
c.42673G>C (p.Val14225Leu)
c.42592G>C (p.Val14198Leu)
c.24355G>C (p.Val8119Leu)
c.14209G>C (p.Val4737Leu)
2g.178609963C>TCA1994184TTN,TTN-AS1c.43756G>A (p.Val14586Ile)
c.24841G>A (p.Val8281Ile)
c.24640G>A (p.Val8214Ile)
c.24265G>A (p.Val8089Ile)
c.51460G>A (p.Val17154Ile)
c.46537G>A (p.Val15513Ile)
n.782+1697C>T
c.50557G>A (p.Val16853Ile)
c.24451G>A (p.Val8151Ile)
c.24310G>A (p.Val8104Ile)
c.50353G>A (p.Val16785Ile)
c.45751G>A (p.Val15251Ile)
c.45748G>A (p.Val15250Ile)
c.42790G>A (p.Val14264Ile)
c.24406G>A (p.Val8136Ile)
c.45901G>A (p.Val15301Ile)
c.45898G>A (p.Val15300Ile)
c.45331G>A (p.Val15111Ile)
c.42673G>A (p.Val14225Ile)
c.42592G>A (p.Val14198Ile)
c.24355G>A (p.Val8119Ile)
c.14209G>A (p.Val4737Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178609964A=CA1310547559TTN,TTN-AS1c.43755T= (p.Asp14585=)
c.24840T= (p.Asp8280=)
c.24639T= (p.Asp8213=)
c.24264T= (p.Asp8088=)
c.51459T= (p.Asp17153=)
c.46536T= (p.Asp15512=)
n.782+1698A=
c.50556T= (p.Asp16852=)
c.24450T= (p.Asp8150=)
c.24309T= (p.Asp8103=)
c.50352T= (p.Asp16784=)
c.45750T= (p.Asp15250=)
c.45747T= (p.Asp15249=)
c.42789T= (p.Asp14263=)
c.24405T= (p.Asp8135=)
c.45900T= (p.Asp15300=)
c.45897T= (p.Asp15299=)
c.45330T= (p.Asp15110=)
c.42672T= (p.Asp14224=)
c.42591T= (p.Asp14197=)
c.24354T= (p.Asp8118=)
c.14208T= (p.Asp4736=)
2g.178609964A>CCA1994185TTN,TTN-AS1c.43755T>G (p.Asp14585Glu)
c.24840T>G (p.Asp8280Glu)
c.24639T>G (p.Asp8213Glu)
c.24264T>G (p.Asp8088Glu)
c.51459T>G (p.Asp17153Glu)
c.46536T>G (p.Asp15512Glu)
n.782+1698A>C
c.50556T>G (p.Asp16852Glu)
c.24450T>G (p.Asp8150Glu)
c.24309T>G (p.Asp8103Glu)
c.50352T>G (p.Asp16784Glu)
c.45750T>G (p.Asp15250Glu)
c.45747T>G (p.Asp15249Glu)
c.42789T>G (p.Asp14263Glu)
c.24405T>G (p.Asp8135Glu)
c.45900T>G (p.Asp15300Glu)
c.45897T>G (p.Asp15299Glu)
c.45330T>G (p.Asp15110Glu)
c.42672T>G (p.Asp14224Glu)
c.42591T>G (p.Asp14197Glu)
c.24354T>G (p.Asp8118Glu)
c.14208T>G (p.Asp4736Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178609964A>GCA430272336TTN,TTN-AS1c.43755T>C (p.Asp14585=)
c.24840T>C (p.Asp8280=)
c.24639T>C (p.Asp8213=)
c.24264T>C (p.Asp8088=)
c.51459T>C (p.Asp17153=)
c.46536T>C (p.Asp15512=)
n.782+1698A>G
c.50556T>C (p.Asp16852=)
c.24450T>C (p.Asp8150=)
c.24309T>C (p.Asp8103=)
c.50352T>C (p.Asp16784=)
c.45750T>C (p.Asp15250=)
c.45747T>C (p.Asp15249=)
c.42789T>C (p.Asp14263=)
c.24405T>C (p.Asp8135=)
c.45900T>C (p.Asp15300=)
c.45897T>C (p.Asp15299=)
c.45330T>C (p.Asp15110=)
c.42672T>C (p.Asp14224=)
c.42591T>C (p.Asp14197=)
c.24354T>C (p.Asp8118=)
c.14208T>C (p.Asp4736=)
 ClinVar
2g.178609964A>TCA349585579TTN,TTN-AS1c.43755T>A (p.Asp14585Glu)
c.24840T>A (p.Asp8280Glu)
c.24639T>A (p.Asp8213Glu)
c.24264T>A (p.Asp8088Glu)
c.51459T>A (p.Asp17153Glu)
c.46536T>A (p.Asp15512Glu)
n.782+1698A>T
c.50556T>A (p.Asp16852Glu)
c.24450T>A (p.Asp8150Glu)
c.24309T>A (p.Asp8103Glu)
c.50352T>A (p.Asp16784Glu)
c.45750T>A (p.Asp15250Glu)
c.45747T>A (p.Asp15249Glu)
c.42789T>A (p.Asp14263Glu)
c.24405T>A (p.Asp8135Glu)
c.45900T>A (p.Asp15300Glu)
c.45897T>A (p.Asp15299Glu)
c.45330T>A (p.Asp15110Glu)
c.42672T>A (p.Asp14224Glu)
c.42591T>A (p.Asp14197Glu)
c.24354T>A (p.Asp8118Glu)
c.14208T>A (p.Asp4736Glu)
2g.178609965T>ACA349585580TTN,TTN-AS1c.43754A>T (p.Asp14585Val)
c.24839A>T (p.Asp8280Val)
c.24638A>T (p.Asp8213Val)
c.24263A>T (p.Asp8088Val)
c.51458A>T (p.Asp17153Val)
c.46535A>T (p.Asp15512Val)
n.782+1699T>A
c.50555A>T (p.Asp16852Val)
c.24449A>T (p.Asp8150Val)
c.24308A>T (p.Asp8103Val)
c.50351A>T (p.Asp16784Val)
c.45749A>T (p.Asp15250Val)
c.45746A>T (p.Asp15249Val)
c.42788A>T (p.Asp14263Val)
c.24404A>T (p.Asp8135Val)
c.45899A>T (p.Asp15300Val)
c.45896A>T (p.Asp15299Val)
c.45329A>T (p.Asp15110Val)
c.42671A>T (p.Asp14224Val)
c.42590A>T (p.Asp14197Val)
c.24353A>T (p.Asp8118Val)
c.14207A>T (p.Asp4736Val)
2g.178609965T>CCA349585585TTN,TTN-AS1c.43754A>G (p.Asp14585Gly)
c.24839A>G (p.Asp8280Gly)
c.24638A>G (p.Asp8213Gly)
c.24263A>G (p.Asp8088Gly)
c.51458A>G (p.Asp17153Gly)
c.46535A>G (p.Asp15512Gly)
n.782+1699T>C
c.50555A>G (p.Asp16852Gly)
c.24449A>G (p.Asp8150Gly)
c.24308A>G (p.Asp8103Gly)
c.50351A>G (p.Asp16784Gly)
c.45749A>G (p.Asp15250Gly)
c.45746A>G (p.Asp15249Gly)
c.42788A>G (p.Asp14263Gly)
c.24404A>G (p.Asp8135Gly)
c.45899A>G (p.Asp15300Gly)
c.45896A>G (p.Asp15299Gly)
c.45329A>G (p.Asp15110Gly)
c.42671A>G (p.Asp14224Gly)
c.42590A>G (p.Asp14197Gly)
c.24353A>G (p.Asp8118Gly)
c.14207A>G (p.Asp4736Gly)
 gnomAD v4
2g.178609965T>GCA349585594TTN,TTN-AS1c.43754A>C (p.Asp14585Ala)
c.24839A>C (p.Asp8280Ala)
c.24638A>C (p.Asp8213Ala)
c.24263A>C (p.Asp8088Ala)
c.51458A>C (p.Asp17153Ala)
c.46535A>C (p.Asp15512Ala)
n.782+1699T>G
c.50555A>C (p.Asp16852Ala)
c.24449A>C (p.Asp8150Ala)
c.24308A>C (p.Asp8103Ala)
c.50351A>C (p.Asp16784Ala)
c.45749A>C (p.Asp15250Ala)
c.45746A>C (p.Asp15249Ala)
c.42788A>C (p.Asp14263Ala)
c.24404A>C (p.Asp8135Ala)
c.45899A>C (p.Asp15300Ala)
c.45896A>C (p.Asp15299Ala)
c.45329A>C (p.Asp15110Ala)
c.42671A>C (p.Asp14224Ala)
c.42590A>C (p.Asp14197Ala)
c.24353A>C (p.Asp8118Ala)
c.14207A>C (p.Asp4736Ala)
2g.178609966C>ACA349585599TTN,TTN-AS1c.43753G>T (p.Asp14585Tyr)
c.24838G>T (p.Asp8280Tyr)
c.24637G>T (p.Asp8213Tyr)
c.24262G>T (p.Asp8088Tyr)
c.51457G>T (p.Asp17153Tyr)
c.46534G>T (p.Asp15512Tyr)
n.782+1700C>A
c.50554G>T (p.Asp16852Tyr)
c.24448G>T (p.Asp8150Tyr)
c.24307G>T (p.Asp8103Tyr)
c.50350G>T (p.Asp16784Tyr)
c.45748G>T (p.Asp15250Tyr)
c.45745G>T (p.Asp15249Tyr)
c.42787G>T (p.Asp14263Tyr)
c.24403G>T (p.Asp8135Tyr)
c.45898G>T (p.Asp15300Tyr)
c.45895G>T (p.Asp15299Tyr)
c.45328G>T (p.Asp15110Tyr)
c.42670G>T (p.Asp14224Tyr)
c.42589G>T (p.Asp14197Tyr)
c.24352G>T (p.Asp8118Tyr)
c.14206G>T (p.Asp4736Tyr)
2g.178609966C>GCA349585605TTN,TTN-AS1c.43753G>C (p.Asp14585His)
c.24838G>C (p.Asp8280His)
c.24637G>C (p.Asp8213His)
c.24262G>C (p.Asp8088His)
c.51457G>C (p.Asp17153His)
c.46534G>C (p.Asp15512His)
n.782+1700C>G
c.50554G>C (p.Asp16852His)
c.24448G>C (p.Asp8150His)
c.24307G>C (p.Asp8103His)
c.50350G>C (p.Asp16784His)
c.45748G>C (p.Asp15250His)
c.45745G>C (p.Asp15249His)
c.42787G>C (p.Asp14263His)
c.24403G>C (p.Asp8135His)
c.45898G>C (p.Asp15300His)
c.45895G>C (p.Asp15299His)
c.45328G>C (p.Asp15110His)
c.42670G>C (p.Asp14224His)
c.42589G>C (p.Asp14197His)
c.24352G>C (p.Asp8118His)
c.14206G>C (p.Asp4736His)
2g.178609966C>TCA349585613TTN,TTN-AS1c.43753G>A (p.Asp14585Asn)
c.24838G>A (p.Asp8280Asn)
c.24637G>A (p.Asp8213Asn)
c.24262G>A (p.Asp8088Asn)
c.51457G>A (p.Asp17153Asn)
c.46534G>A (p.Asp15512Asn)
n.782+1700C>T
c.50554G>A (p.Asp16852Asn)
c.24448G>A (p.Asp8150Asn)
c.24307G>A (p.Asp8103Asn)
c.50350G>A (p.Asp16784Asn)
c.45748G>A (p.Asp15250Asn)
c.45745G>A (p.Asp15249Asn)
c.42787G>A (p.Asp14263Asn)
c.24403G>A (p.Asp8135Asn)
c.45898G>A (p.Asp15300Asn)
c.45895G>A (p.Asp15299Asn)
c.45328G>A (p.Asp15110Asn)
c.42670G>A (p.Asp14224Asn)
c.42589G>A (p.Asp14197Asn)
c.24352G>A (p.Asp8118Asn)
c.14206G>A (p.Asp4736Asn)
2g.178609967T>ACA430272348TTN,TTN-AS1c.43752A>T (p.Val14584=)
c.24837A>T (p.Val8279=)
c.24636A>T (p.Val8212=)
c.24261A>T (p.Val8087=)
c.51456A>T (p.Val17152=)
c.46533A>T (p.Val15511=)
n.782+1701T>A
c.50553A>T (p.Val16851=)
c.24447A>T (p.Val8149=)
c.24306A>T (p.Val8102=)
c.50349A>T (p.Val16783=)
c.45747A>T (p.Val15249=)
c.45744A>T (p.Val15248=)
c.42786A>T (p.Val14262=)
c.24402A>T (p.Val8134=)
c.45897A>T (p.Val15299=)
c.45894A>T (p.Val15298=)
c.45327A>T (p.Val15109=)
c.42669A>T (p.Val14223=)
c.42588A>T (p.Val14196=)
c.24351A>T (p.Val8117=)
c.14205A>T (p.Val4735=)
2g.178609967T>CCA430272349TTN,TTN-AS1c.43752A>G (p.Val14584=)
c.24837A>G (p.Val8279=)
c.24636A>G (p.Val8212=)
c.24261A>G (p.Val8087=)
c.51456A>G (p.Val17152=)
c.46533A>G (p.Val15511=)
n.782+1701T>C
c.50553A>G (p.Val16851=)
c.24447A>G (p.Val8149=)
c.24306A>G (p.Val8102=)
c.50349A>G (p.Val16783=)
c.45747A>G (p.Val15249=)
c.45744A>G (p.Val15248=)
c.42786A>G (p.Val14262=)
c.24402A>G (p.Val8134=)
c.45897A>G (p.Val15299=)
c.45894A>G (p.Val15298=)
c.45327A>G (p.Val15109=)
c.42669A>G (p.Val14223=)
c.42588A>G (p.Val14196=)
c.24351A>G (p.Val8117=)
c.14205A>G (p.Val4735=)
2g.178609967T>GCA430272347TTN,TTN-AS1c.43752A>C (p.Val14584=)
c.24837A>C (p.Val8279=)
c.24636A>C (p.Val8212=)
c.24261A>C (p.Val8087=)
c.51456A>C (p.Val17152=)
c.46533A>C (p.Val15511=)
n.782+1701T>G
c.50553A>C (p.Val16851=)
c.24447A>C (p.Val8149=)
c.24306A>C (p.Val8102=)
c.50349A>C (p.Val16783=)
c.45747A>C (p.Val15249=)
c.45744A>C (p.Val15248=)
c.42786A>C (p.Val14262=)
c.24402A>C (p.Val8134=)
c.45897A>C (p.Val15299=)
c.45894A>C (p.Val15298=)
c.45327A>C (p.Val15109=)
c.42669A>C (p.Val14223=)
c.42588A>C (p.Val14196=)
c.24351A>C (p.Val8117=)
c.14205A>C (p.Val4735=)
2g.178609968A>CCA349585615TTN,TTN-AS1c.43751T>G (p.Val14584Gly)
c.24836T>G (p.Val8279Gly)
c.24635T>G (p.Val8212Gly)
c.24260T>G (p.Val8087Gly)
c.51455T>G (p.Val17152Gly)
c.46532T>G (p.Val15511Gly)
n.782+1702A>C
c.50552T>G (p.Val16851Gly)
c.24446T>G (p.Val8149Gly)
c.24305T>G (p.Val8102Gly)
c.50348T>G (p.Val16783Gly)
c.45746T>G (p.Val15249Gly)
c.45743T>G (p.Val15248Gly)
c.42785T>G (p.Val14262Gly)
c.24401T>G (p.Val8134Gly)
c.45896T>G (p.Val15299Gly)
c.45893T>G (p.Val15298Gly)
c.45326T>G (p.Val15109Gly)
c.42668T>G (p.Val14223Gly)
c.42587T>G (p.Val14196Gly)
c.24350T>G (p.Val8117Gly)
c.14204T>G (p.Val4735Gly)
2g.178609968A>GCA349585617TTN,TTN-AS1c.43751T>C (p.Val14584Ala)
c.24836T>C (p.Val8279Ala)
c.24635T>C (p.Val8212Ala)
c.24260T>C (p.Val8087Ala)
c.51455T>C (p.Val17152Ala)
c.46532T>C (p.Val15511Ala)
n.782+1702A>G
c.50552T>C (p.Val16851Ala)
c.24446T>C (p.Val8149Ala)
c.24305T>C (p.Val8102Ala)
c.50348T>C (p.Val16783Ala)
c.45746T>C (p.Val15249Ala)
c.45743T>C (p.Val15248Ala)
c.42785T>C (p.Val14262Ala)
c.24401T>C (p.Val8134Ala)
c.45896T>C (p.Val15299Ala)
c.45893T>C (p.Val15298Ala)
c.45326T>C (p.Val15109Ala)
c.42668T>C (p.Val14223Ala)
c.42587T>C (p.Val14196Ala)
c.24350T>C (p.Val8117Ala)
c.14204T>C (p.Val4735Ala)
 gnomAD v4
2g.178609968A>TCA349585616TTN,TTN-AS1c.43751T>A (p.Val14584Glu)
c.24836T>A (p.Val8279Glu)
c.24635T>A (p.Val8212Glu)
c.24260T>A (p.Val8087Glu)
c.51455T>A (p.Val17152Glu)
c.46532T>A (p.Val15511Glu)
n.782+1702A>T
c.50552T>A (p.Val16851Glu)
c.24446T>A (p.Val8149Glu)
c.24305T>A (p.Val8102Glu)
c.50348T>A (p.Val16783Glu)
c.45746T>A (p.Val15249Glu)
c.45743T>A (p.Val15248Glu)
c.42785T>A (p.Val14262Glu)
c.24401T>A (p.Val8134Glu)
c.45896T>A (p.Val15299Glu)
c.45893T>A (p.Val15298Glu)
c.45326T>A (p.Val15109Glu)
c.42668T>A (p.Val14223Glu)
c.42587T>A (p.Val14196Glu)
c.24350T>A (p.Val8117Glu)
c.14204T>A (p.Val4735Glu)
2g.178609969C>ACA349585620TTN,TTN-AS1c.43750G>T (p.Val14584Leu)
c.24835G>T (p.Val8279Leu)
c.24634G>T (p.Val8212Leu)
c.24259G>T (p.Val8087Leu)
c.51454G>T (p.Val17152Leu)
c.46531G>T (p.Val15511Leu)
n.782+1703C>A
c.50551G>T (p.Val16851Leu)
c.24445G>T (p.Val8149Leu)
c.24304G>T (p.Val8102Leu)
c.50347G>T (p.Val16783Leu)
c.45745G>T (p.Val15249Leu)
c.45742G>T (p.Val15248Leu)
c.42784G>T (p.Val14262Leu)
c.24400G>T (p.Val8134Leu)
c.45895G>T (p.Val15299Leu)
c.45892G>T (p.Val15298Leu)
c.45325G>T (p.Val15109Leu)
c.42667G>T (p.Val14223Leu)
c.42586G>T (p.Val14196Leu)
c.24349G>T (p.Val8117Leu)
c.14203G>T (p.Val4735Leu)
2g.178609969C=CA1310547560TTN,TTN-AS1c.43750G= (p.Val14584=)
c.24835G= (p.Val8279=)
c.24634G= (p.Val8212=)
c.24259G= (p.Val8087=)
c.51454G= (p.Val17152=)
c.46531G= (p.Val15511=)
n.782+1703C=
c.50551G= (p.Val16851=)
c.24445G= (p.Val8149=)
c.24304G= (p.Val8102=)
c.50347G= (p.Val16783=)
c.45745G= (p.Val15249=)
c.45742G= (p.Val15248=)
c.42784G= (p.Val14262=)
c.24400G= (p.Val8134=)
c.45895G= (p.Val15299=)
c.45892G= (p.Val15298=)
c.45325G= (p.Val15109=)
c.42667G= (p.Val14223=)
c.42586G= (p.Val14196=)
c.24349G= (p.Val8117=)
c.14203G= (p.Val4735=)
2g.178609969C>GCA349585625TTN,TTN-AS1c.43750G>C (p.Val14584Leu)
c.24835G>C (p.Val8279Leu)
c.24634G>C (p.Val8212Leu)
c.24259G>C (p.Val8087Leu)
c.51454G>C (p.Val17152Leu)
c.46531G>C (p.Val15511Leu)
n.782+1703C>G
c.50551G>C (p.Val16851Leu)
c.24445G>C (p.Val8149Leu)
c.24304G>C (p.Val8102Leu)
c.50347G>C (p.Val16783Leu)
c.45745G>C (p.Val15249Leu)
c.45742G>C (p.Val15248Leu)
c.42784G>C (p.Val14262Leu)
c.24400G>C (p.Val8134Leu)
c.45895G>C (p.Val15299Leu)
c.45892G>C (p.Val15298Leu)
c.45325G>C (p.Val15109Leu)
c.42667G>C (p.Val14223Leu)
c.42586G>C (p.Val14196Leu)
c.24349G>C (p.Val8117Leu)
c.14203G>C (p.Val4735Leu)
2g.178609969C>TCA349585621TTN,TTN-AS1c.43750G>A (p.Val14584Ile)
c.24835G>A (p.Val8279Ile)
c.24634G>A (p.Val8212Ile)
c.24259G>A (p.Val8087Ile)
c.51454G>A (p.Val17152Ile)
c.46531G>A (p.Val15511Ile)
n.782+1703C>T
c.50551G>A (p.Val16851Ile)
c.24445G>A (p.Val8149Ile)
c.24304G>A (p.Val8102Ile)
c.50347G>A (p.Val16783Ile)
c.45745G>A (p.Val15249Ile)
c.45742G>A (p.Val15248Ile)
c.42784G>A (p.Val14262Ile)
c.24400G>A (p.Val8134Ile)
c.45895G>A (p.Val15299Ile)
c.45892G>A (p.Val15298Ile)
c.45325G>A (p.Val15109Ile)
c.42667G>A (p.Val14223Ile)
c.42586G>A (p.Val14196Ile)
c.24349G>A (p.Val8117Ile)
c.14203G>A (p.Val4735Ile)
 ClinVar dbSNP gnomAD v4
2g.178609970A>CCA430272357TTN,TTN-AS1c.43749T>G (p.Pro14583=)
c.24834T>G (p.Pro8278=)
c.24633T>G (p.Pro8211=)
c.24258T>G (p.Pro8086=)
c.51453T>G (p.Pro17151=)
c.46530T>G (p.Pro15510=)
n.782+1704A>C
c.50550T>G (p.Pro16850=)
c.24444T>G (p.Pro8148=)
c.24303T>G (p.Pro8101=)
c.50346T>G (p.Pro16782=)
c.45744T>G (p.Pro15248=)
c.45741T>G (p.Pro15247=)
c.42783T>G (p.Pro14261=)
c.24399T>G (p.Pro8133=)
c.45894T>G (p.Pro15298=)
c.45891T>G (p.Pro15297=)
c.45324T>G (p.Pro15108=)
c.42666T>G (p.Pro14222=)
c.42585T>G (p.Pro14195=)
c.24348T>G (p.Pro8116=)
c.14202T>G (p.Pro4734=)
2g.178609970A>GCA430272362TTN,TTN-AS1c.43749T>C (p.Pro14583=)
c.24834T>C (p.Pro8278=)
c.24633T>C (p.Pro8211=)
c.24258T>C (p.Pro8086=)
c.51453T>C (p.Pro17151=)
c.46530T>C (p.Pro15510=)
n.782+1704A>G
c.50550T>C (p.Pro16850=)
c.24444T>C (p.Pro8148=)
c.24303T>C (p.Pro8101=)
c.50346T>C (p.Pro16782=)
c.45744T>C (p.Pro15248=)
c.45741T>C (p.Pro15247=)
c.42783T>C (p.Pro14261=)
c.24399T>C (p.Pro8133=)
c.45894T>C (p.Pro15298=)
c.45891T>C (p.Pro15297=)
c.45324T>C (p.Pro15108=)
c.42666T>C (p.Pro14222=)
c.42585T>C (p.Pro14195=)
c.24348T>C (p.Pro8116=)
c.14202T>C (p.Pro4734=)
 gnomAD v4
2g.178609970A>TCA430272359TTN,TTN-AS1c.43749T>A (p.Pro14583=)
c.24834T>A (p.Pro8278=)
c.24633T>A (p.Pro8211=)
c.24258T>A (p.Pro8086=)
c.51453T>A (p.Pro17151=)
c.46530T>A (p.Pro15510=)
n.782+1704A>T
c.50550T>A (p.Pro16850=)
c.24444T>A (p.Pro8148=)
c.24303T>A (p.Pro8101=)
c.50346T>A (p.Pro16782=)
c.45744T>A (p.Pro15248=)
c.45741T>A (p.Pro15247=)
c.42783T>A (p.Pro14261=)
c.24399T>A (p.Pro8133=)
c.45894T>A (p.Pro15298=)
c.45891T>A (p.Pro15297=)
c.45324T>A (p.Pro15108=)
c.42666T>A (p.Pro14222=)
c.42585T>A (p.Pro14195=)
c.24348T>A (p.Pro8116=)
c.14202T>A (p.Pro4734=)
 gnomAD v4
2g.178609971G>ACA1994186TTN,TTN-AS1c.43748C>T (p.Pro14583Leu)
c.24833C>T (p.Pro8278Leu)
c.24632C>T (p.Pro8211Leu)
c.24257C>T (p.Pro8086Leu)
c.51452C>T (p.Pro17151Leu)
c.46529C>T (p.Pro15510Leu)
n.782+1705G>A
c.50549C>T (p.Pro16850Leu)
c.24443C>T (p.Pro8148Leu)
c.24302C>T (p.Pro8101Leu)
c.50345C>T (p.Pro16782Leu)
c.45743C>T (p.Pro15248Leu)
c.45740C>T (p.Pro15247Leu)
c.42782C>T (p.Pro14261Leu)
c.24398C>T (p.Pro8133Leu)
c.45893C>T (p.Pro15298Leu)
c.45890C>T (p.Pro15297Leu)
c.45323C>T (p.Pro15108Leu)
c.42665C>T (p.Pro14222Leu)
c.42584C>T (p.Pro14195Leu)
c.24347C>T (p.Pro8116Leu)
c.14201C>T (p.Pro4734Leu)
 dbSNP ExAC gnomAD v2
2g.178609971G>CCA349585629TTN,TTN-AS1c.43748C>G (p.Pro14583Arg)
c.24833C>G (p.Pro8278Arg)
c.24632C>G (p.Pro8211Arg)
c.24257C>G (p.Pro8086Arg)
c.51452C>G (p.Pro17151Arg)
c.46529C>G (p.Pro15510Arg)
n.782+1705G>C
c.50549C>G (p.Pro16850Arg)
c.24443C>G (p.Pro8148Arg)
c.24302C>G (p.Pro8101Arg)
c.50345C>G (p.Pro16782Arg)
c.45743C>G (p.Pro15248Arg)
c.45740C>G (p.Pro15247Arg)
c.42782C>G (p.Pro14261Arg)
c.24398C>G (p.Pro8133Arg)
c.45893C>G (p.Pro15298Arg)
c.45890C>G (p.Pro15297Arg)
c.45323C>G (p.Pro15108Arg)
c.42665C>G (p.Pro14222Arg)
c.42584C>G (p.Pro14195Arg)
c.24347C>G (p.Pro8116Arg)
c.14201C>G (p.Pro4734Arg)
2g.178609971G=CA1310547561TTN,TTN-AS1c.43748C= (p.Pro14583=)
c.24833C= (p.Pro8278=)
c.24632C= (p.Pro8211=)
c.24257C= (p.Pro8086=)
c.51452C= (p.Pro17151=)
c.46529C= (p.Pro15510=)
n.782+1705G=
c.50549C= (p.Pro16850=)
c.24443C= (p.Pro8148=)
c.24302C= (p.Pro8101=)
c.50345C= (p.Pro16782=)
c.45743C= (p.Pro15248=)
c.45740C= (p.Pro15247=)
c.42782C= (p.Pro14261=)
c.24398C= (p.Pro8133=)
c.45893C= (p.Pro15298=)
c.45890C= (p.Pro15297=)
c.45323C= (p.Pro15108=)
c.42665C= (p.Pro14222=)
c.42584C= (p.Pro14195=)
c.24347C= (p.Pro8116=)
c.14201C= (p.Pro4734=)
2g.178609971G>TCA349585628TTN,TTN-AS1c.43748C>A (p.Pro14583His)
c.24833C>A (p.Pro8278His)
c.24632C>A (p.Pro8211His)
c.24257C>A (p.Pro8086His)
c.51452C>A (p.Pro17151His)
c.46529C>A (p.Pro15510His)
n.782+1705G>T
c.50549C>A (p.Pro16850His)
c.24443C>A (p.Pro8148His)
c.24302C>A (p.Pro8101His)
c.50345C>A (p.Pro16782His)
c.45743C>A (p.Pro15248His)
c.45740C>A (p.Pro15247His)
c.42782C>A (p.Pro14261His)
c.24398C>A (p.Pro8133His)
c.45893C>A (p.Pro15298His)
c.45890C>A (p.Pro15297His)
c.45323C>A (p.Pro15108His)
c.42665C>A (p.Pro14222His)
c.42584C>A (p.Pro14195His)
c.24347C>A (p.Pro8116His)
c.14201C>A (p.Pro4734His)
2g.178609972G>ACA349585631TTN,TTN-AS1c.43747C>T (p.Pro14583Ser)
c.24832C>T (p.Pro8278Ser)
c.24631C>T (p.Pro8211Ser)
c.24256C>T (p.Pro8086Ser)
c.51451C>T (p.Pro17151Ser)
c.46528C>T (p.Pro15510Ser)
n.782+1706G>A
c.50548C>T (p.Pro16850Ser)
c.24442C>T (p.Pro8148Ser)
c.24301C>T (p.Pro8101Ser)
c.50344C>T (p.Pro16782Ser)
c.45742C>T (p.Pro15248Ser)
c.45739C>T (p.Pro15247Ser)
c.42781C>T (p.Pro14261Ser)
c.24397C>T (p.Pro8133Ser)
c.45892C>T (p.Pro15298Ser)
c.45889C>T (p.Pro15297Ser)
c.45322C>T (p.Pro15108Ser)
c.42664C>T (p.Pro14222Ser)
c.42583C>T (p.Pro14195Ser)
c.24346C>T (p.Pro8116Ser)
c.14200C>T (p.Pro4734Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.178609972G>CCA349585636TTN,TTN-AS1c.43747C>G (p.Pro14583Ala)
c.24832C>G (p.Pro8278Ala)
c.24631C>G (p.Pro8211Ala)
c.24256C>G (p.Pro8086Ala)
c.51451C>G (p.Pro17151Ala)
c.46528C>G (p.Pro15510Ala)
n.782+1706G>C
c.50548C>G (p.Pro16850Ala)
c.24442C>G (p.Pro8148Ala)
c.24301C>G (p.Pro8101Ala)
c.50344C>G (p.Pro16782Ala)
c.45742C>G (p.Pro15248Ala)
c.45739C>G (p.Pro15247Ala)
c.42781C>G (p.Pro14261Ala)
c.24397C>G (p.Pro8133Ala)
c.45892C>G (p.Pro15298Ala)
c.45889C>G (p.Pro15297Ala)
c.45322C>G (p.Pro15108Ala)
c.42664C>G (p.Pro14222Ala)
c.42583C>G (p.Pro14195Ala)
c.24346C>G (p.Pro8116Ala)
c.14200C>G (p.Pro4734Ala)
2g.178609972G=CA1310547562TTN,TTN-AS1c.43747C= (p.Pro14583=)
c.24832C= (p.Pro8278=)
c.24631C= (p.Pro8211=)
c.24256C= (p.Pro8086=)
c.51451C= (p.Pro17151=)
c.46528C= (p.Pro15510=)
n.782+1706G=
c.50548C= (p.Pro16850=)
c.24442C= (p.Pro8148=)
c.24301C= (p.Pro8101=)
c.50344C= (p.Pro16782=)
c.45742C= (p.Pro15248=)
c.45739C= (p.Pro15247=)
c.42781C= (p.Pro14261=)
c.24397C= (p.Pro8133=)
c.45892C= (p.Pro15298=)
c.45889C= (p.Pro15297=)
c.45322C= (p.Pro15108=)
c.42664C= (p.Pro14222=)
c.42583C= (p.Pro14195=)
c.24346C= (p.Pro8116=)
c.14200C= (p.Pro4734=)
2g.178609972G>TCA349585634TTN,TTN-AS1c.43747C>A (p.Pro14583Thr)
c.24832C>A (p.Pro8278Thr)
c.24631C>A (p.Pro8211Thr)
c.24256C>A (p.Pro8086Thr)
c.51451C>A (p.Pro17151Thr)
c.46528C>A (p.Pro15510Thr)
n.782+1706G>T
c.50548C>A (p.Pro16850Thr)
c.24442C>A (p.Pro8148Thr)
c.24301C>A (p.Pro8101Thr)
c.50344C>A (p.Pro16782Thr)
c.45742C>A (p.Pro15248Thr)
c.45739C>A (p.Pro15247Thr)
c.42781C>A (p.Pro14261Thr)
c.24397C>A (p.Pro8133Thr)
c.45892C>A (p.Pro15298Thr)
c.45889C>A (p.Pro15297Thr)
c.45322C>A (p.Pro15108Thr)
c.42664C>A (p.Pro14222Thr)
c.42583C>A (p.Pro14195Thr)
c.24346C>A (p.Pro8116Thr)
c.14200C>A (p.Pro4734Thr)
2g.178609973T>ACA430272367TTN,TTN-AS1c.43746A>T (p.Pro14582=)
c.24831A>T (p.Pro8277=)
c.24630A>T (p.Pro8210=)
c.24255A>T (p.Pro8085=)
c.51450A>T (p.Pro17150=)
c.46527A>T (p.Pro15509=)
n.782+1707T>A
c.50547A>T (p.Pro16849=)
c.24441A>T (p.Pro8147=)
c.24300A>T (p.Pro8100=)
c.50343A>T (p.Pro16781=)
c.45741A>T (p.Pro15247=)
c.45738A>T (p.Pro15246=)
c.42780A>T (p.Pro14260=)
c.24396A>T (p.Pro8132=)
c.45891A>T (p.Pro15297=)
c.45888A>T (p.Pro15296=)
c.45321A>T (p.Pro15107=)
c.42663A>T (p.Pro14221=)
c.42582A>T (p.Pro14194=)
c.24345A>T (p.Pro8115=)
c.14199A>T (p.Pro4733=)
2g.178609973T>CCA430272369TTN,TTN-AS1c.43746A>G (p.Pro14582=)
c.24831A>G (p.Pro8277=)
c.24630A>G (p.Pro8210=)
c.24255A>G (p.Pro8085=)
c.51450A>G (p.Pro17150=)
c.46527A>G (p.Pro15509=)
n.782+1707T>C
c.50547A>G (p.Pro16849=)
c.24441A>G (p.Pro8147=)
c.24300A>G (p.Pro8100=)
c.50343A>G (p.Pro16781=)
c.45741A>G (p.Pro15247=)
c.45738A>G (p.Pro15246=)
c.42780A>G (p.Pro14260=)
c.24396A>G (p.Pro8132=)
c.45891A>G (p.Pro15297=)
c.45888A>G (p.Pro15296=)
c.45321A>G (p.Pro15107=)
c.42663A>G (p.Pro14221=)
c.42582A>G (p.Pro14194=)
c.24345A>G (p.Pro8115=)
c.14199A>G (p.Pro4733=)
 gnomAD v4
2g.178609973T>GCA430272371TTN,TTN-AS1c.43746A>C (p.Pro14582=)
c.24831A>C (p.Pro8277=)
c.24630A>C (p.Pro8210=)
c.24255A>C (p.Pro8085=)
c.51450A>C (p.Pro17150=)
c.46527A>C (p.Pro15509=)
n.782+1707T>G
c.50547A>C (p.Pro16849=)
c.24441A>C (p.Pro8147=)
c.24300A>C (p.Pro8100=)
c.50343A>C (p.Pro16781=)
c.45741A>C (p.Pro15247=)
c.45738A>C (p.Pro15246=)
c.42780A>C (p.Pro14260=)
c.24396A>C (p.Pro8132=)
c.45891A>C (p.Pro15297=)
c.45888A>C (p.Pro15296=)
c.45321A>C (p.Pro15107=)
c.42663A>C (p.Pro14221=)
c.42582A>C (p.Pro14194=)
c.24345A>C (p.Pro8115=)
c.14199A>C (p.Pro4733=)
2g.178609973_178609974delinsTGCA1310547563TTN,TTN-AS1c.43745_43746delinsCA (p.Pro14582=)
c.24830_24831delinsCA (p.Pro8277=)
c.24629_24630delinsCA (p.Pro8210=)
c.24254_24255delinsCA (p.Pro8085=)
c.51449_51450delinsCA (p.Pro17150=)
c.46526_46527delinsCA (p.Pro15509=)
n.782+1707_782+1708delinsTG
c.50546_50547delinsCA (p.Pro16849=)
c.24440_24441delinsCA (p.Pro8147=)
c.24299_24300delinsCA (p.Pro8100=)
c.50342_50343delinsCA (p.Pro16781=)
c.45740_45741delinsCA (p.Pro15247=)
c.45737_45738delinsCA (p.Pro15246=)
c.42779_42780delinsCA (p.Pro14260=)
c.24395_24396delinsCA (p.Pro8132=)
c.45890_45891delinsCA (p.Pro15297=)
c.45887_45888delinsCA (p.Pro15296=)
c.45320_45321delinsCA (p.Pro15107=)
c.42662_42663delinsCA (p.Pro14221=)
c.42581_42582delinsCA (p.Pro14194=)
c.24344_24345delinsCA (p.Pro8115=)
c.14198_14199delinsCA (p.Pro4733=)
2g.178609974G>ACA1994187TTN,TTN-AS1c.43745C>T (p.Pro14582Leu)
c.24830C>T (p.Pro8277Leu)
c.24629C>T (p.Pro8210Leu)
c.24254C>T (p.Pro8085Leu)
c.51449C>T (p.Pro17150Leu)
c.46526C>T (p.Pro15509Leu)
n.782+1708G>A
c.50546C>T (p.Pro16849Leu)
c.24440C>T (p.Pro8147Leu)
c.24299C>T (p.Pro8100Leu)
c.50342C>T (p.Pro16781Leu)
c.45740C>T (p.Pro15247Leu)
c.45737C>T (p.Pro15246Leu)
c.42779C>T (p.Pro14260Leu)
c.24395C>T (p.Pro8132Leu)
c.45890C>T (p.Pro15297Leu)
c.45887C>T (p.Pro15296Leu)
c.45320C>T (p.Pro15107Leu)
c.42662C>T (p.Pro14221Leu)
c.42581C>T (p.Pro14194Leu)
c.24344C>T (p.Pro8115Leu)
c.14198C>T (p.Pro4733Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178609974G>CCA349585646TTN,TTN-AS1c.43745C>G (p.Pro14582Arg)
c.24830C>G (p.Pro8277Arg)
c.24629C>G (p.Pro8210Arg)
c.24254C>G (p.Pro8085Arg)
c.51449C>G (p.Pro17150Arg)
c.46526C>G (p.Pro15509Arg)
n.782+1708G>C
c.50546C>G (p.Pro16849Arg)
c.24440C>G (p.Pro8147Arg)
c.24299C>G (p.Pro8100Arg)
c.50342C>G (p.Pro16781Arg)
c.45740C>G (p.Pro15247Arg)
c.45737C>G (p.Pro15246Arg)
c.42779C>G (p.Pro14260Arg)
c.24395C>G (p.Pro8132Arg)
c.45890C>G (p.Pro15297Arg)
c.45887C>G (p.Pro15296Arg)
c.45320C>G (p.Pro15107Arg)
c.42662C>G (p.Pro14221Arg)
c.42581C>G (p.Pro14194Arg)
c.24344C>G (p.Pro8115Arg)
c.14198C>G (p.Pro4733Arg)
2g.178609974G=CA1310547564TTN,TTN-AS1c.43745C= (p.Pro14582=)
c.24830C= (p.Pro8277=)
c.24629C= (p.Pro8210=)
c.24254C= (p.Pro8085=)
c.51449C= (p.Pro17150=)
c.46526C= (p.Pro15509=)
n.782+1708G=
c.50546C= (p.Pro16849=)
c.24440C= (p.Pro8147=)
c.24299C= (p.Pro8100=)
c.50342C= (p.Pro16781=)
c.45740C= (p.Pro15247=)
c.45737C= (p.Pro15246=)
c.42779C= (p.Pro14260=)
c.24395C= (p.Pro8132=)
c.45890C= (p.Pro15297=)
c.45887C= (p.Pro15296=)
c.45320C= (p.Pro15107=)
c.42662C= (p.Pro14221=)
c.42581C= (p.Pro14194=)
c.24344C= (p.Pro8115=)
c.14198C= (p.Pro4733=)
2g.178609974G>TCA349585649TTN,TTN-AS1c.43745C>A (p.Pro14582Gln)
c.24830C>A (p.Pro8277Gln)
c.24629C>A (p.Pro8210Gln)
c.24254C>A (p.Pro8085Gln)
c.51449C>A (p.Pro17150Gln)
c.46526C>A (p.Pro15509Gln)
n.782+1708G>T
c.50546C>A (p.Pro16849Gln)
c.24440C>A (p.Pro8147Gln)
c.24299C>A (p.Pro8100Gln)
c.50342C>A (p.Pro16781Gln)
c.45740C>A (p.Pro15247Gln)
c.45737C>A (p.Pro15246Gln)
c.42779C>A (p.Pro14260Gln)
c.24395C>A (p.Pro8132Gln)
c.45890C>A (p.Pro15297Gln)
c.45887C>A (p.Pro15296Gln)
c.45320C>A (p.Pro15107Gln)
c.42662C>A (p.Pro14221Gln)
c.42581C>A (p.Pro14194Gln)
c.24344C>A (p.Pro8115Gln)
c.14198C>A (p.Pro4733Gln)
2g.178609975delCA1039713187TTN,TTN-AS1c.43745del (p.Pro14582HisfsTer3)
c.24830del (p.Pro8277HisfsTer3)
c.24629del (p.Pro8210HisfsTer3)
c.24254del (p.Pro8085HisfsTer3)
c.51449del (p.Pro17150HisfsTer3)
c.46526del (p.Pro15509HisfsTer3)
n.782+1709del
c.50546del (p.Pro16849HisfsTer3)
c.24440del (p.Pro8147HisfsTer3)
c.24299del (p.Pro8100HisfsTer3)
c.50342del (p.Pro16781HisfsTer3)
c.45740del (p.Pro15247HisfsTer3)
c.45737del (p.Pro15246HisfsTer3)
c.42779del (p.Pro14260HisfsTer3)
c.24395del (p.Pro8132HisfsTer3)
c.45890del (p.Pro15297HisfsTer3)
c.45887del (p.Pro15296HisfsTer3)
c.45320del (p.Pro15107HisfsTer3)
c.42662del (p.Pro14221HisfsTer3)
c.42581del (p.Pro14194HisfsTer3)
c.24344del (p.Pro8115HisfsTer3)
c.14198del (p.Pro4733HisfsTer3)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178609975G>ACA349585657TTN,TTN-AS1c.43744C>T (p.Pro14582Ser)
c.24829C>T (p.Pro8277Ser)
c.24628C>T (p.Pro8210Ser)
c.24253C>T (p.Pro8085Ser)
c.51448C>T (p.Pro17150Ser)
c.46525C>T (p.Pro15509Ser)
n.782+1709G>A
c.50545C>T (p.Pro16849Ser)
c.24439C>T (p.Pro8147Ser)
c.24298C>T (p.Pro8100Ser)
c.50341C>T (p.Pro16781Ser)
c.45739C>T (p.Pro15247Ser)
c.45736C>T (p.Pro15246Ser)
c.42778C>T (p.Pro14260Ser)
c.24394C>T (p.Pro8132Ser)
c.45889C>T (p.Pro15297Ser)
c.45886C>T (p.Pro15296Ser)
c.45319C>T (p.Pro15107Ser)
c.42661C>T (p.Pro14221Ser)
c.42580C>T (p.Pro14194Ser)
c.24343C>T (p.Pro8115Ser)
c.14197C>T (p.Pro4733Ser)
2g.178609975G>CCA349585659TTN,TTN-AS1c.43744C>G (p.Pro14582Ala)
c.24829C>G (p.Pro8277Ala)
c.24628C>G (p.Pro8210Ala)
c.24253C>G (p.Pro8085Ala)
c.51448C>G (p.Pro17150Ala)
c.46525C>G (p.Pro15509Ala)
n.782+1709G>C
c.50545C>G (p.Pro16849Ala)
c.24439C>G (p.Pro8147Ala)
c.24298C>G (p.Pro8100Ala)
c.50341C>G (p.Pro16781Ala)
c.45739C>G (p.Pro15247Ala)
c.45736C>G (p.Pro15246Ala)
c.42778C>G (p.Pro14260Ala)
c.24394C>G (p.Pro8132Ala)
c.45889C>G (p.Pro15297Ala)
c.45886C>G (p.Pro15296Ala)
c.45319C>G (p.Pro15107Ala)
c.42661C>G (p.Pro14221Ala)
c.42580C>G (p.Pro14194Ala)
c.24343C>G (p.Pro8115Ala)
c.14197C>G (p.Pro4733Ala)
2g.178609975G>TCA349585662TTN,TTN-AS1c.43744C>A (p.Pro14582Thr)
c.24829C>A (p.Pro8277Thr)
c.24628C>A (p.Pro8210Thr)
c.24253C>A (p.Pro8085Thr)
c.51448C>A (p.Pro17150Thr)
c.46525C>A (p.Pro15509Thr)
n.782+1709G>T
c.50545C>A (p.Pro16849Thr)
c.24439C>A (p.Pro8147Thr)
c.24298C>A (p.Pro8100Thr)
c.50341C>A (p.Pro16781Thr)
c.45739C>A (p.Pro15247Thr)
c.45736C>A (p.Pro15246Thr)
c.42778C>A (p.Pro14260Thr)
c.24394C>A (p.Pro8132Thr)
c.45889C>A (p.Pro15297Thr)
c.45886C>A (p.Pro15296Thr)
c.45319C>A (p.Pro15107Thr)
c.42661C>A (p.Pro14221Thr)
c.42580C>A (p.Pro14194Thr)
c.24343C>A (p.Pro8115Thr)
c.14197C>A (p.Pro4733Thr)
2g.178609976A>CCA349585670TTN,TTN-AS1c.43743T>G (p.Asp14581Glu)
c.24828T>G (p.Asp8276Glu)
c.24627T>G (p.Asp8209Glu)
c.24252T>G (p.Asp8084Glu)
c.51447T>G (p.Asp17149Glu)
c.46524T>G (p.Asp15508Glu)
n.782+1710A>C
c.50544T>G (p.Asp16848Glu)
c.24438T>G (p.Asp8146Glu)
c.24297T>G (p.Asp8099Glu)
c.50340T>G (p.Asp16780Glu)
c.45738T>G (p.Asp15246Glu)
c.45735T>G (p.Asp15245Glu)
c.42777T>G (p.Asp14259Glu)
c.24393T>G (p.Asp8131Glu)
c.45888T>G (p.Asp15296Glu)
c.45885T>G (p.Asp15295Glu)
c.45318T>G (p.Asp15106Glu)
c.42660T>G (p.Asp14220Glu)
c.42579T>G (p.Asp14193Glu)
c.24342T>G (p.Asp8114Glu)
c.14196T>G (p.Asp4732Glu)
2g.178609976A>GCA430272378TTN,TTN-AS1c.43743T>C (p.Asp14581=)
c.24828T>C (p.Asp8276=)
c.24627T>C (p.Asp8209=)
c.24252T>C (p.Asp8084=)
c.51447T>C (p.Asp17149=)
c.46524T>C (p.Asp15508=)
n.782+1710A>G
c.50544T>C (p.Asp16848=)
c.24438T>C (p.Asp8146=)
c.24297T>C (p.Asp8099=)
c.50340T>C (p.Asp16780=)
c.45738T>C (p.Asp15246=)
c.45735T>C (p.Asp15245=)
c.42777T>C (p.Asp14259=)
c.24393T>C (p.Asp8131=)
c.45888T>C (p.Asp15296=)
c.45885T>C (p.Asp15295=)
c.45318T>C (p.Asp15106=)
c.42660T>C (p.Asp14220=)
c.42579T>C (p.Asp14193=)
c.24342T>C (p.Asp8114=)
c.14196T>C (p.Asp4732=)
 gnomAD v4
2g.178609976A>TCA349585673TTN,TTN-AS1c.43743T>A (p.Asp14581Glu)
c.24828T>A (p.Asp8276Glu)
c.24627T>A (p.Asp8209Glu)
c.24252T>A (p.Asp8084Glu)
c.51447T>A (p.Asp17149Glu)
c.46524T>A (p.Asp15508Glu)
n.782+1710A>T
c.50544T>A (p.Asp16848Glu)
c.24438T>A (p.Asp8146Glu)
c.24297T>A (p.Asp8099Glu)
c.50340T>A (p.Asp16780Glu)
c.45738T>A (p.Asp15246Glu)
c.45735T>A (p.Asp15245Glu)
c.42777T>A (p.Asp14259Glu)
c.24393T>A (p.Asp8131Glu)
c.45888T>A (p.Asp15296Glu)
c.45885T>A (p.Asp15295Glu)
c.45318T>A (p.Asp15106Glu)
c.42660T>A (p.Asp14220Glu)
c.42579T>A (p.Asp14193Glu)
c.24342T>A (p.Asp8114Glu)
c.14196T>A (p.Asp4732Glu)
2g.178609977T>ACA349585679TTN,TTN-AS1c.43742A>T (p.Asp14581Val)
c.24827A>T (p.Asp8276Val)
c.24626A>T (p.Asp8209Val)
c.24251A>T (p.Asp8084Val)
c.51446A>T (p.Asp17149Val)
c.46523A>T (p.Asp15508Val)
n.782+1711T>A
c.50543A>T (p.Asp16848Val)
c.24437A>T (p.Asp8146Val)
c.24296A>T (p.Asp8099Val)
c.50339A>T (p.Asp16780Val)
c.45737A>T (p.Asp15246Val)
c.45734A>T (p.Asp15245Val)
c.42776A>T (p.Asp14259Val)
c.24392A>T (p.Asp8131Val)
c.45887A>T (p.Asp15296Val)
c.45884A>T (p.Asp15295Val)
c.45317A>T (p.Asp15106Val)
c.42659A>T (p.Asp14220Val)
c.42578A>T (p.Asp14193Val)
c.24341A>T (p.Asp8114Val)
c.14195A>T (p.Asp4732Val)
2g.178609977T>CCA349585681TTN,TTN-AS1c.43742A>G (p.Asp14581Gly)
c.24827A>G (p.Asp8276Gly)
c.24626A>G (p.Asp8209Gly)
c.24251A>G (p.Asp8084Gly)
c.51446A>G (p.Asp17149Gly)
c.46523A>G (p.Asp15508Gly)
n.782+1711T>C
c.50543A>G (p.Asp16848Gly)
c.24437A>G (p.Asp8146Gly)
c.24296A>G (p.Asp8099Gly)
c.50339A>G (p.Asp16780Gly)
c.45737A>G (p.Asp15246Gly)
c.45734A>G (p.Asp15245Gly)
c.42776A>G (p.Asp14259Gly)
c.24392A>G (p.Asp8131Gly)
c.45887A>G (p.Asp15296Gly)
c.45884A>G (p.Asp15295Gly)
c.45317A>G (p.Asp15106Gly)
c.42659A>G (p.Asp14220Gly)
c.42578A>G (p.Asp14193Gly)
c.24341A>G (p.Asp8114Gly)
c.14195A>G (p.Asp4732Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.178609977T>GCA349585685TTN,TTN-AS1c.43742A>C (p.Asp14581Ala)
c.24827A>C (p.Asp8276Ala)
c.24626A>C (p.Asp8209Ala)
c.24251A>C (p.Asp8084Ala)
c.51446A>C (p.Asp17149Ala)
c.46523A>C (p.Asp15508Ala)
n.782+1711T>G
c.50543A>C (p.Asp16848Ala)
c.24437A>C (p.Asp8146Ala)
c.24296A>C (p.Asp8099Ala)
c.50339A>C (p.Asp16780Ala)
c.45737A>C (p.Asp15246Ala)
c.45734A>C (p.Asp15245Ala)
c.42776A>C (p.Asp14259Ala)
c.24392A>C (p.Asp8131Ala)
c.45887A>C (p.Asp15296Ala)
c.45884A>C (p.Asp15295Ala)
c.45317A>C (p.Asp15106Ala)
c.42659A>C (p.Asp14220Ala)
c.42578A>C (p.Asp14193Ala)
c.24341A>C (p.Asp8114Ala)
c.14195A>C (p.Asp4732Ala)
2g.178609977T=CA1310547565TTN,TTN-AS1c.43742A= (p.Asp14581=)
c.24827A= (p.Asp8276=)
c.24626A= (p.Asp8209=)
c.24251A= (p.Asp8084=)
c.51446A= (p.Asp17149=)
c.46523A= (p.Asp15508=)
n.782+1711T=
c.50543A= (p.Asp16848=)
c.24437A= (p.Asp8146=)
c.24296A= (p.Asp8099=)
c.50339A= (p.Asp16780=)
c.45737A= (p.Asp15246=)
c.45734A= (p.Asp15245=)
c.42776A= (p.Asp14259=)
c.24392A= (p.Asp8131=)
c.45887A= (p.Asp15296=)
c.45884A= (p.Asp15295=)
c.45317A= (p.Asp15106=)
c.42659A= (p.Asp14220=)
c.42578A= (p.Asp14193=)
c.24341A= (p.Asp8114=)
c.14195A= (p.Asp4732=)
2g.178609978C>ACA349585688TTN,TTN-AS1c.43741G>T (p.Asp14581Tyr)
c.24826G>T (p.Asp8276Tyr)
c.24625G>T (p.Asp8209Tyr)
c.24250G>T (p.Asp8084Tyr)
c.51445G>T (p.Asp17149Tyr)
c.46522G>T (p.Asp15508Tyr)
n.782+1712C>A
c.50542G>T (p.Asp16848Tyr)
c.24436G>T (p.Asp8146Tyr)
c.24295G>T (p.Asp8099Tyr)
c.50338G>T (p.Asp16780Tyr)
c.45736G>T (p.Asp15246Tyr)
c.45733G>T (p.Asp15245Tyr)
c.42775G>T (p.Asp14259Tyr)
c.24391G>T (p.Asp8131Tyr)
c.45886G>T (p.Asp15296Tyr)
c.45883G>T (p.Asp15295Tyr)
c.45316G>T (p.Asp15106Tyr)
c.42658G>T (p.Asp14220Tyr)
c.42577G>T (p.Asp14193Tyr)
c.24340G>T (p.Asp8114Tyr)
c.14194G>T (p.Asp4732Tyr)
2g.178609978C>GCA349585696TTN,TTN-AS1c.43741G>C (p.Asp14581His)
c.24826G>C (p.Asp8276His)
c.24625G>C (p.Asp8209His)
c.24250G>C (p.Asp8084His)
c.51445G>C (p.Asp17149His)
c.46522G>C (p.Asp15508His)
n.782+1712C>G
c.50542G>C (p.Asp16848His)
c.24436G>C (p.Asp8146His)
c.24295G>C (p.Asp8099His)
c.50338G>C (p.Asp16780His)
c.45736G>C (p.Asp15246His)
c.45733G>C (p.Asp15245His)
c.42775G>C (p.Asp14259His)
c.24391G>C (p.Asp8131His)
c.45886G>C (p.Asp15296His)
c.45883G>C (p.Asp15295His)
c.45316G>C (p.Asp15106His)
c.42658G>C (p.Asp14220His)
c.42577G>C (p.Asp14193His)
c.24340G>C (p.Asp8114His)
c.14194G>C (p.Asp4732His)
2g.178609978C>TCA349585698TTN,TTN-AS1c.43741G>A (p.Asp14581Asn)
c.24826G>A (p.Asp8276Asn)
c.24625G>A (p.Asp8209Asn)
c.24250G>A (p.Asp8084Asn)
c.51445G>A (p.Asp17149Asn)
c.46522G>A (p.Asp15508Asn)
n.782+1712C>T
c.50542G>A (p.Asp16848Asn)
c.24436G>A (p.Asp8146Asn)
c.24295G>A (p.Asp8099Asn)
c.50338G>A (p.Asp16780Asn)
c.45736G>A (p.Asp15246Asn)
c.45733G>A (p.Asp15245Asn)
c.42775G>A (p.Asp14259Asn)
c.24391G>A (p.Asp8131Asn)
c.45886G>A (p.Asp15296Asn)
c.45883G>A (p.Asp15295Asn)
c.45316G>A (p.Asp15106Asn)
c.42658G>A (p.Asp14220Asn)
c.42577G>A (p.Asp14193Asn)
c.24340G>A (p.Asp8114Asn)
c.14194G>A (p.Asp4732Asn)
2g.178609978_178609979delinsCACA1310547566TTN,TTN-AS1c.43740_43741delinsTG (p.Pro14580=)
c.24825_24826delinsTG (p.Pro8275=)
c.24624_24625delinsTG (p.Pro8208=)
c.24249_24250delinsTG (p.Pro8083=)
c.51444_51445delinsTG (p.Pro17148=)
c.46521_46522delinsTG (p.Pro15507=)
n.782+1712_782+1713delinsCA
c.50541_50542delinsTG (p.Pro16847=)
c.24435_24436delinsTG (p.Pro8145=)
c.24294_24295delinsTG (p.Pro8098=)
c.50337_50338delinsTG (p.Pro16779=)
c.45735_45736delinsTG (p.Pro15245=)
c.45732_45733delinsTG (p.Pro15244=)
c.42774_42775delinsTG (p.Pro14258=)
c.24390_24391delinsTG (p.Pro8130=)
c.45885_45886delinsTG (p.Pro15295=)
c.45882_45883delinsTG (p.Pro15294=)
c.45315_45316delinsTG (p.Pro15105=)
c.42657_42658delinsTG (p.Pro14219=)
c.42576_42577delinsTG (p.Pro14192=)
c.24339_24340delinsTG (p.Pro8113=)
c.14193_14194delinsTG (p.Pro4731=)
2g.178609979delCA761290905TTN,TTN-AS1c.43740del (p.Asp14581IlefsTer4)
c.24825del (p.Asp8276IlefsTer4)
c.24624del (p.Asp8209IlefsTer4)
c.24249del (p.Asp8084IlefsTer4)
c.51444del (p.Asp17149IlefsTer4)
c.46521del (p.Asp15508IlefsTer4)
n.782+1713del
c.50541del (p.Asp16848IlefsTer4)
c.24435del (p.Asp8146IlefsTer4)
c.24294del (p.Asp8099IlefsTer4)
c.50337del (p.Asp16780IlefsTer4)
c.45735del (p.Asp15246IlefsTer4)
c.45732del (p.Asp15245IlefsTer4)
c.42774del (p.Asp14259IlefsTer4)
c.24390del (p.Asp8131IlefsTer4)
c.45885del (p.Asp15296IlefsTer4)
c.45882del (p.Asp15295IlefsTer4)
c.45315del (p.Asp15106IlefsTer4)
c.42657del (p.Asp14220IlefsTer4)
c.42576del (p.Asp14193IlefsTer4)
c.24339del (p.Asp8114IlefsTer4)
c.14193del (p.Asp4732IlefsTer4)
 ClinVar dbSNP
2g.178609979A=CA1310547567TTN,TTN-AS1c.43740T= (p.Pro14580=)
c.24825T= (p.Pro8275=)
c.24624T= (p.Pro8208=)
c.24249T= (p.Pro8083=)
c.51444T= (p.Pro17148=)
c.46521T= (p.Pro15507=)
n.782+1713A=
c.50541T= (p.Pro16847=)
c.24435T= (p.Pro8145=)
c.24294T= (p.Pro8098=)
c.50337T= (p.Pro16779=)
c.45735T= (p.Pro15245=)
c.45732T= (p.Pro15244=)
c.42774T= (p.Pro14258=)
c.24390T= (p.Pro8130=)
c.45885T= (p.Pro15295=)
c.45882T= (p.Pro15294=)
c.45315T= (p.Pro15105=)
c.42657T= (p.Pro14219=)
c.42576T= (p.Pro14192=)
c.24339T= (p.Pro8113=)
c.14193T= (p.Pro4731=)
2g.178609979A>CCA430272385TTN,TTN-AS1c.43740T>G (p.Pro14580=)
c.24825T>G (p.Pro8275=)
c.24624T>G (p.Pro8208=)
c.24249T>G (p.Pro8083=)
c.51444T>G (p.Pro17148=)
c.46521T>G (p.Pro15507=)
n.782+1713A>C
c.50541T>G (p.Pro16847=)
c.24435T>G (p.Pro8145=)
c.24294T>G (p.Pro8098=)
c.50337T>G (p.Pro16779=)
c.45735T>G (p.Pro15245=)
c.45732T>G (p.Pro15244=)
c.42774T>G (p.Pro14258=)
c.24390T>G (p.Pro8130=)
c.45885T>G (p.Pro15295=)
c.45882T>G (p.Pro15294=)
c.45315T>G (p.Pro15105=)
c.42657T>G (p.Pro14219=)
c.42576T>G (p.Pro14192=)
c.24339T>G (p.Pro8113=)
c.14193T>G (p.Pro4731=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178609979A>GCA430272387TTN,TTN-AS1c.43740T>C (p.Pro14580=)
c.24825T>C (p.Pro8275=)
c.24624T>C (p.Pro8208=)
c.24249T>C (p.Pro8083=)
c.51444T>C (p.Pro17148=)
c.46521T>C (p.Pro15507=)
n.782+1713A>G
c.50541T>C (p.Pro16847=)
c.24435T>C (p.Pro8145=)
c.24294T>C (p.Pro8098=)
c.50337T>C (p.Pro16779=)
c.45735T>C (p.Pro15245=)
c.45732T>C (p.Pro15244=)
c.42774T>C (p.Pro14258=)
c.24390T>C (p.Pro8130=)
c.45885T>C (p.Pro15295=)
c.45882T>C (p.Pro15294=)
c.45315T>C (p.Pro15105=)
c.42657T>C (p.Pro14219=)
c.42576T>C (p.Pro14192=)
c.24339T>C (p.Pro8113=)
c.14193T>C (p.Pro4731=)
2g.178609979A>TCA430272384TTN,TTN-AS1c.43740T>A (p.Pro14580=)
c.24825T>A (p.Pro8275=)
c.24624T>A (p.Pro8208=)
c.24249T>A (p.Pro8083=)
c.51444T>A (p.Pro17148=)
c.46521T>A (p.Pro15507=)
n.782+1713A>T
c.50541T>A (p.Pro16847=)
c.24435T>A (p.Pro8145=)
c.24294T>A (p.Pro8098=)
c.50337T>A (p.Pro16779=)
c.45735T>A (p.Pro15245=)
c.45732T>A (p.Pro15244=)
c.42774T>A (p.Pro14258=)
c.24390T>A (p.Pro8130=)
c.45885T>A (p.Pro15295=)
c.45882T>A (p.Pro15294=)
c.45315T>A (p.Pro15105=)
c.42657T>A (p.Pro14219=)
c.42576T>A (p.Pro14192=)
c.24339T>A (p.Pro8113=)
c.14193T>A (p.Pro4731=)
2g.178609979_178609980delinsAGCA1310547568TTN,TTN-AS1c.43739_43740delinsCT (p.Pro14580=)
c.24824_24825delinsCT (p.Pro8275=)
c.24623_24624delinsCT (p.Pro8208=)
c.24248_24249delinsCT (p.Pro8083=)
c.51443_51444delinsCT (p.Pro17148=)
c.46520_46521delinsCT (p.Pro15507=)
n.782+1713_782+1714delinsAG
c.50540_50541delinsCT (p.Pro16847=)
c.24434_24435delinsCT (p.Pro8145=)
c.24293_24294delinsCT (p.Pro8098=)
c.50336_50337delinsCT (p.Pro16779=)
c.45734_45735delinsCT (p.Pro15245=)
c.45731_45732delinsCT (p.Pro15244=)
c.42773_42774delinsCT (p.Pro14258=)
c.24389_24390delinsCT (p.Pro8130=)
c.45884_45885delinsCT (p.Pro15295=)
c.45881_45882delinsCT (p.Pro15294=)
c.45314_45315delinsCT (p.Pro15105=)
c.42656_42657delinsCT (p.Pro14219=)
c.42575_42576delinsCT (p.Pro14192=)
c.24338_24339delinsCT (p.Pro8113=)
c.14192_14193delinsCT (p.Pro4731=)
2g.178609979_178609991delCA2586965454TTN,TTN-AS1c.43733-5_43740del
c.24818-5_24825del
c.24617-5_24624del
c.24242-5_24249del
c.51437-5_51444del
c.46514-5_46521del
n.782+1713_782+1725del
c.50534-5_50541del
c.24428-5_24435del
c.24287-5_24294del
c.50330-5_50337del
c.45728-5_45735del
c.45725-5_45732del
c.42767-5_42774del
c.24383-5_24390del
c.45878-5_45885del
c.45875-5_45882del
c.45308-5_45315del
c.42650-5_42657del
c.42569-5_42576del
c.24332-5_24339del
c.14186-5_14193del
2g.178609981_178609992delCA2586965453TTN,TTN-AS1c.43733-4_43740del
c.24818-4_24825del
c.24617-4_24624del
c.24242-4_24249del
c.51437-4_51444del
c.46514-4_46521del
n.782+1715_782+1726del
c.50534-4_50541del
c.24428-4_24435del
c.24287-4_24294del
c.50330-4_50337del
c.45728-4_45735del
c.45725-4_45732del
c.42767-4_42774del
c.24383-4_24390del
c.45878-4_45885del
c.45875-4_45882del
c.45308-4_45315del
c.42650-4_42657del
c.42569-4_42576del
c.24332-4_24339del
c.14186-4_14193del
2g.178609980G>ACA349585711TTN,TTN-AS1c.43739C>T (p.Pro14580Leu)
c.24824C>T (p.Pro8275Leu)
c.24623C>T (p.Pro8208Leu)
c.24248C>T (p.Pro8083Leu)
c.51443C>T (p.Pro17148Leu)
c.46520C>T (p.Pro15507Leu)
n.782+1714G>A
c.50540C>T (p.Pro16847Leu)
c.24434C>T (p.Pro8145Leu)
c.24293C>T (p.Pro8098Leu)
c.50336C>T (p.Pro16779Leu)
c.45734C>T (p.Pro15245Leu)
c.45731C>T (p.Pro15244Leu)
c.42773C>T (p.Pro14258Leu)
c.24389C>T (p.Pro8130Leu)
c.45884C>T (p.Pro15295Leu)
c.45881C>T (p.Pro15294Leu)
c.45314C>T (p.Pro15105Leu)
c.42656C>T (p.Pro14219Leu)
c.42575C>T (p.Pro14192Leu)
c.24338C>T (p.Pro8113Leu)
c.14192C>T (p.Pro4731Leu)
2g.178609980G>CCA349585709TTN,TTN-AS1c.43739C>G (p.Pro14580Arg)
c.24824C>G (p.Pro8275Arg)
c.24623C>G (p.Pro8208Arg)
c.24248C>G (p.Pro8083Arg)
c.51443C>G (p.Pro17148Arg)
c.46520C>G (p.Pro15507Arg)
n.782+1714G>C
c.50540C>G (p.Pro16847Arg)
c.24434C>G (p.Pro8145Arg)
c.24293C>G (p.Pro8098Arg)
c.50336C>G (p.Pro16779Arg)
c.45734C>G (p.Pro15245Arg)
c.45731C>G (p.Pro15244Arg)
c.42773C>G (p.Pro14258Arg)
c.24389C>G (p.Pro8130Arg)
c.45884C>G (p.Pro15295Arg)
c.45881C>G (p.Pro15294Arg)
c.45314C>G (p.Pro15105Arg)
c.42656C>G (p.Pro14219Arg)
c.42575C>G (p.Pro14192Arg)
c.24338C>G (p.Pro8113Arg)
c.14192C>G (p.Pro4731Arg)
 ClinVar dbSNP gnomAD v4
2g.178609980G>TCA349585702TTN,TTN-AS1c.43739C>A (p.Pro14580His)
c.24824C>A (p.Pro8275His)
c.24623C>A (p.Pro8208His)
c.24248C>A (p.Pro8083His)
c.51443C>A (p.Pro17148His)
c.46520C>A (p.Pro15507His)
n.782+1714G>T
c.50540C>A (p.Pro16847His)
c.24434C>A (p.Pro8145His)
c.24293C>A (p.Pro8098His)
c.50336C>A (p.Pro16779His)
c.45734C>A (p.Pro15245His)
c.45731C>A (p.Pro15244His)
c.42773C>A (p.Pro14258His)
c.24389C>A (p.Pro8130His)
c.45884C>A (p.Pro15295His)
c.45881C>A (p.Pro15294His)
c.45314C>A (p.Pro15105His)
c.42656C>A (p.Pro14219His)
c.42575C>A (p.Pro14192His)
c.24338C>A (p.Pro8113His)
c.14192C>A (p.Pro4731His)
2g.178609984dupCA2753332498TTN,TTN-AS1c.43739dup (p.Asp14581Ter)
c.24824dup (p.Asp8276Ter)
c.24623dup (p.Asp8209Ter)
c.24248dup (p.Asp8084Ter)
c.51443dup (p.Asp17149Ter)
c.46520dup (p.Asp15508Ter)
n.782+1718dup
c.50540dup (p.Asp16848Ter)
c.24434dup (p.Asp8146Ter)
c.24293dup (p.Asp8099Ter)
c.50336dup (p.Asp16780Ter)
c.45734dup (p.Asp15246Ter)
c.45731dup (p.Asp15245Ter)
c.42773dup (p.Asp14259Ter)
c.24389dup (p.Asp8131Ter)
c.45884dup (p.Asp15296Ter)
c.45881dup (p.Asp15295Ter)
c.45314dup (p.Asp15106Ter)
c.42656dup (p.Asp14220Ter)
c.42575dup (p.Asp14193Ter)
c.24338dup (p.Asp8114Ter)
c.14192dup (p.Asp4732Ter)
2g.178609984delCA538435837TTN,TTN-AS1c.43739del (p.Pro14580LeufsTer5)
c.24824del (p.Pro8275LeufsTer5)
c.24623del (p.Pro8208LeufsTer5)
c.24248del (p.Pro8083LeufsTer5)
c.51443del (p.Pro17148LeufsTer5)
c.46520del (p.Pro15507LeufsTer5)
n.782+1718del
c.50540del (p.Pro16847LeufsTer5)
c.24434del (p.Pro8145LeufsTer5)
c.24293del (p.Pro8098LeufsTer5)
c.50336del (p.Pro16779LeufsTer5)
c.45734del (p.Pro15245LeufsTer5)
c.45731del (p.Pro15244LeufsTer5)
c.42773del (p.Pro14258LeufsTer5)
c.24389del (p.Pro8130LeufsTer5)
c.45884del (p.Pro15295LeufsTer5)
c.45881del (p.Pro15294LeufsTer5)
c.45314del (p.Pro15105LeufsTer5)
c.42656del (p.Pro14219LeufsTer5)
c.42575del (p.Pro14192LeufsTer5)
c.24338del (p.Pro8113LeufsTer5)
c.14192del (p.Pro4731LeufsTer5)
 dbSNP gnomAD v2 gnomAD v4
2g.178609981G>ACA235105TTN,TTN-AS1c.43738C>T (p.Pro14580Ser)
c.24823C>T (p.Pro8275Ser)
c.24622C>T (p.Pro8208Ser)
c.24247C>T (p.Pro8083Ser)
c.51442C>T (p.Pro17148Ser)
c.46519C>T (p.Pro15507Ser)
n.782+1715G>A
c.50539C>T (p.Pro16847Ser)
c.24433C>T (p.Pro8145Ser)
c.24292C>T (p.Pro8098Ser)
c.50335C>T (p.Pro16779Ser)
c.45733C>T (p.Pro15245Ser)
c.45730C>T (p.Pro15244Ser)
c.42772C>T (p.Pro14258Ser)
c.24388C>T (p.Pro8130Ser)
c.45883C>T (p.Pro15295Ser)
c.45880C>T (p.Pro15294Ser)
c.45313C>T (p.Pro15105Ser)
c.42655C>T (p.Pro14219Ser)
c.42574C>T (p.Pro14192Ser)
c.24337C>T (p.Pro8113Ser)
c.14191C>T (p.Pro4731Ser)
 ClinVar dbSNP gnomAD v4
2g.178609981G>CCA349585715TTN,TTN-AS1c.43738C>G (p.Pro14580Ala)
c.24823C>G (p.Pro8275Ala)
c.24622C>G (p.Pro8208Ala)
c.24247C>G (p.Pro8083Ala)
c.51442C>G (p.Pro17148Ala)
c.46519C>G (p.Pro15507Ala)
n.782+1715G>C
c.50539C>G (p.Pro16847Ala)
c.24433C>G (p.Pro8145Ala)
c.24292C>G (p.Pro8098Ala)
c.50335C>G (p.Pro16779Ala)
c.45733C>G (p.Pro15245Ala)
c.45730C>G (p.Pro15244Ala)
c.42772C>G (p.Pro14258Ala)
c.24388C>G (p.Pro8130Ala)
c.45883C>G (p.Pro15295Ala)
c.45880C>G (p.Pro15294Ala)
c.45313C>G (p.Pro15105Ala)
c.42655C>G (p.Pro14219Ala)
c.42574C>G (p.Pro14192Ala)
c.24337C>G (p.Pro8113Ala)
c.14191C>G (p.Pro4731Ala)
 gnomAD v4
2g.178609981G=CA1310547569TTN,TTN-AS1c.43738C= (p.Pro14580=)
c.24823C= (p.Pro8275=)
c.24622C= (p.Pro8208=)
c.24247C= (p.Pro8083=)
c.51442C= (p.Pro17148=)
c.46519C= (p.Pro15507=)
n.782+1715G=
c.50539C= (p.Pro16847=)
c.24433C= (p.Pro8145=)
c.24292C= (p.Pro8098=)
c.50335C= (p.Pro16779=)
c.45733C= (p.Pro15245=)
c.45730C= (p.Pro15244=)
c.42772C= (p.Pro14258=)
c.24388C= (p.Pro8130=)
c.45883C= (p.Pro15295=)
c.45880C= (p.Pro15294=)
c.45313C= (p.Pro15105=)
c.42655C= (p.Pro14219=)
c.42574C= (p.Pro14192=)
c.24337C= (p.Pro8113=)
c.14191C= (p.Pro4731=)
2g.178609981G>TCA349585717TTN,TTN-AS1c.43738C>A (p.Pro14580Thr)
c.24823C>A (p.Pro8275Thr)
c.24622C>A (p.Pro8208Thr)
c.24247C>A (p.Pro8083Thr)
c.51442C>A (p.Pro17148Thr)
c.46519C>A (p.Pro15507Thr)
n.782+1715G>T
c.50539C>A (p.Pro16847Thr)
c.24433C>A (p.Pro8145Thr)
c.24292C>A (p.Pro8098Thr)
c.50335C>A (p.Pro16779Thr)
c.45733C>A (p.Pro15245Thr)
c.45730C>A (p.Pro15244Thr)
c.42772C>A (p.Pro14258Thr)
c.24388C>A (p.Pro8130Thr)
c.45883C>A (p.Pro15295Thr)
c.45880C>A (p.Pro15294Thr)
c.45313C>A (p.Pro15105Thr)
c.42655C>A (p.Pro14219Thr)
c.42574C>A (p.Pro14192Thr)
c.24337C>A (p.Pro8113Thr)
c.14191C>A (p.Pro4731Thr)
2g.178609982G>ACA430272390TTN,TTN-AS1c.43737C>T (p.Pro14579=)
c.24822C>T (p.Pro8274=)
c.24621C>T (p.Pro8207=)
c.24246C>T (p.Pro8082=)
c.51441C>T (p.Pro17147=)
c.46518C>T (p.Pro15506=)
n.782+1716G>A
c.50538C>T (p.Pro16846=)
c.24432C>T (p.Pro8144=)
c.24291C>T (p.Pro8097=)
c.50334C>T (p.Pro16778=)
c.45732C>T (p.Pro15244=)
c.45729C>T (p.Pro15243=)
c.42771C>T (p.Pro14257=)
c.24387C>T (p.Pro8129=)
c.45882C>T (p.Pro15294=)
c.45879C>T (p.Pro15293=)
c.45312C>T (p.Pro15104=)
c.42654C>T (p.Pro14218=)
c.42573C>T (p.Pro14191=)
c.24336C>T (p.Pro8112=)
c.14190C>T (p.Pro4730=)
2g.178609982G>CCA430272391TTN,TTN-AS1c.43737C>G (p.Pro14579=)
c.24822C>G (p.Pro8274=)
c.24621C>G (p.Pro8207=)
c.24246C>G (p.Pro8082=)
c.51441C>G (p.Pro17147=)
c.46518C>G (p.Pro15506=)
n.782+1716G>C
c.50538C>G (p.Pro16846=)
c.24432C>G (p.Pro8144=)
c.24291C>G (p.Pro8097=)
c.50334C>G (p.Pro16778=)
c.45732C>G (p.Pro15244=)
c.45729C>G (p.Pro15243=)
c.42771C>G (p.Pro14257=)
c.24387C>G (p.Pro8129=)
c.45882C>G (p.Pro15294=)
c.45879C>G (p.Pro15293=)
c.45312C>G (p.Pro15104=)
c.42654C>G (p.Pro14218=)
c.42573C>G (p.Pro14191=)
c.24336C>G (p.Pro8112=)
c.14190C>G (p.Pro4730=)
2g.178609982G>TCA430272393TTN,TTN-AS1c.43737C>A (p.Pro14579=)
c.24822C>A (p.Pro8274=)
c.24621C>A (p.Pro8207=)
c.24246C>A (p.Pro8082=)
c.51441C>A (p.Pro17147=)
c.46518C>A (p.Pro15506=)
n.782+1716G>T
c.50538C>A (p.Pro16846=)
c.24432C>A (p.Pro8144=)
c.24291C>A (p.Pro8097=)
c.50334C>A (p.Pro16778=)
c.45732C>A (p.Pro15244=)
c.45729C>A (p.Pro15243=)
c.42771C>A (p.Pro14257=)
c.24387C>A (p.Pro8129=)
c.45882C>A (p.Pro15294=)
c.45879C>A (p.Pro15293=)
c.45312C>A (p.Pro15104=)
c.42654C>A (p.Pro14218=)
c.42573C>A (p.Pro14191=)
c.24336C>A (p.Pro8112=)
c.14190C>A (p.Pro4730=)
2g.178609983G>ACA349585722TTN,TTN-AS1c.43736C>T (p.Pro14579Leu)
c.24821C>T (p.Pro8274Leu)
c.24620C>T (p.Pro8207Leu)
c.24245C>T (p.Pro8082Leu)
c.51440C>T (p.Pro17147Leu)
c.46517C>T (p.Pro15506Leu)
n.782+1717G>A
c.50537C>T (p.Pro16846Leu)
c.24431C>T (p.Pro8144Leu)
c.24290C>T (p.Pro8097Leu)
c.50333C>T (p.Pro16778Leu)
c.45731C>T (p.Pro15244Leu)
c.45728C>T (p.Pro15243Leu)
c.42770C>T (p.Pro14257Leu)
c.24386C>T (p.Pro8129Leu)
c.45881C>T (p.Pro15294Leu)
c.45878C>T (p.Pro15293Leu)
c.45311C>T (p.Pro15104Leu)
c.42653C>T (p.Pro14218Leu)
c.42572C>T (p.Pro14191Leu)
c.24335C>T (p.Pro8112Leu)
c.14189C>T (p.Pro4730Leu)
2g.178609983G>CCA349585723TTN,TTN-AS1c.43736C>G (p.Pro14579Arg)
c.24821C>G (p.Pro8274Arg)
c.24620C>G (p.Pro8207Arg)
c.24245C>G (p.Pro8082Arg)
c.51440C>G (p.Pro17147Arg)
c.46517C>G (p.Pro15506Arg)
n.782+1717G>C
c.50537C>G (p.Pro16846Arg)
c.24431C>G (p.Pro8144Arg)
c.24290C>G (p.Pro8097Arg)
c.50333C>G (p.Pro16778Arg)
c.45731C>G (p.Pro15244Arg)
c.45728C>G (p.Pro15243Arg)
c.42770C>G (p.Pro14257Arg)
c.24386C>G (p.Pro8129Arg)
c.45881C>G (p.Pro15294Arg)
c.45878C>G (p.Pro15293Arg)
c.45311C>G (p.Pro15104Arg)
c.42653C>G (p.Pro14218Arg)
c.42572C>G (p.Pro14191Arg)
c.24335C>G (p.Pro8112Arg)
c.14189C>G (p.Pro4730Arg)
2g.178609983G=CA1310547570TTN,TTN-AS1c.43736C= (p.Pro14579=)
c.24821C= (p.Pro8274=)
c.24620C= (p.Pro8207=)
c.24245C= (p.Pro8082=)
c.51440C= (p.Pro17147=)
c.46517C= (p.Pro15506=)
n.782+1717G=
c.50537C= (p.Pro16846=)
c.24431C= (p.Pro8144=)
c.24290C= (p.Pro8097=)
c.50333C= (p.Pro16778=)
c.45731C= (p.Pro15244=)
c.45728C= (p.Pro15243=)
c.42770C= (p.Pro14257=)
c.24386C= (p.Pro8129=)
c.45881C= (p.Pro15294=)
c.45878C= (p.Pro15293=)
c.45311C= (p.Pro15104=)
c.42653C= (p.Pro14218=)
c.42572C= (p.Pro14191=)
c.24335C= (p.Pro8112=)
c.14189C= (p.Pro4730=)
2g.178609983G>TCA349585726TTN,TTN-AS1c.43736C>A (p.Pro14579His)
c.24821C>A (p.Pro8274His)
c.24620C>A (p.Pro8207His)
c.24245C>A (p.Pro8082His)
c.51440C>A (p.Pro17147His)
c.46517C>A (p.Pro15506His)
n.782+1717G>T
c.50537C>A (p.Pro16846His)
c.24431C>A (p.Pro8144His)
c.24290C>A (p.Pro8097His)
c.50333C>A (p.Pro16778His)
c.45731C>A (p.Pro15244His)
c.45728C>A (p.Pro15243His)
c.42770C>A (p.Pro14257His)
c.24386C>A (p.Pro8129His)
c.45881C>A (p.Pro15294His)
c.45878C>A (p.Pro15293His)
c.45311C>A (p.Pro15104His)
c.42653C>A (p.Pro14218His)
c.42572C>A (p.Pro14191His)
c.24335C>A (p.Pro8112His)
c.14189C>A (p.Pro4730His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178609984G>ACA349585729TTN,TTN-AS1c.43735C>T (p.Pro14579Ser)
c.24820C>T (p.Pro8274Ser)
c.24619C>T (p.Pro8207Ser)
c.24244C>T (p.Pro8082Ser)
c.51439C>T (p.Pro17147Ser)
c.46516C>T (p.Pro15506Ser)
n.782+1718G>A
c.50536C>T (p.Pro16846Ser)
c.24430C>T (p.Pro8144Ser)
c.24289C>T (p.Pro8097Ser)
c.50332C>T (p.Pro16778Ser)
c.45730C>T (p.Pro15244Ser)
c.45727C>T (p.Pro15243Ser)
c.42769C>T (p.Pro14257Ser)
c.24385C>T (p.Pro8129Ser)
c.45880C>T (p.Pro15294Ser)
c.45877C>T (p.Pro15293Ser)
c.45310C>T (p.Pro15104Ser)
c.42652C>T (p.Pro14218Ser)
c.42571C>T (p.Pro14191Ser)
c.24334C>T (p.Pro8112Ser)
c.14188C>T (p.Pro4730Ser)
2g.178609984G>CCA349585731TTN,TTN-AS1c.43735C>G (p.Pro14579Ala)
c.24820C>G (p.Pro8274Ala)
c.24619C>G (p.Pro8207Ala)
c.24244C>G (p.Pro8082Ala)
c.51439C>G (p.Pro17147Ala)
c.46516C>G (p.Pro15506Ala)
n.782+1718G>C
c.50536C>G (p.Pro16846Ala)
c.24430C>G (p.Pro8144Ala)
c.24289C>G (p.Pro8097Ala)
c.50332C>G (p.Pro16778Ala)
c.45730C>G (p.Pro15244Ala)
c.45727C>G (p.Pro15243Ala)
c.42769C>G (p.Pro14257Ala)
c.24385C>G (p.Pro8129Ala)
c.45880C>G (p.Pro15294Ala)
c.45877C>G (p.Pro15293Ala)
c.45310C>G (p.Pro15104Ala)
c.42652C>G (p.Pro14218Ala)
c.42571C>G (p.Pro14191Ala)
c.24334C>G (p.Pro8112Ala)
c.14188C>G (p.Pro4730Ala)
2g.178609984G=CA1310547571TTN,TTN-AS1c.43735C= (p.Pro14579=)
c.24820C= (p.Pro8274=)
c.24619C= (p.Pro8207=)
c.24244C= (p.Pro8082=)
c.51439C= (p.Pro17147=)
c.46516C= (p.Pro15506=)
n.782+1718G=
c.50536C= (p.Pro16846=)
c.24430C= (p.Pro8144=)
c.24289C= (p.Pro8097=)
c.50332C= (p.Pro16778=)
c.45730C= (p.Pro15244=)
c.45727C= (p.Pro15243=)
c.42769C= (p.Pro14257=)
c.24385C= (p.Pro8129=)
c.45880C= (p.Pro15294=)
c.45877C= (p.Pro15293=)
c.45310C= (p.Pro15104=)
c.42652C= (p.Pro14218=)
c.42571C= (p.Pro14191=)
c.24334C= (p.Pro8112=)
c.14188C= (p.Pro4730=)
2g.178609984G>TCA10576518TTN,TTN-AS1c.43735C>A (p.Pro14579Thr)
c.24820C>A (p.Pro8274Thr)
c.24619C>A (p.Pro8207Thr)
c.24244C>A (p.Pro8082Thr)
c.51439C>A (p.Pro17147Thr)
c.46516C>A (p.Pro15506Thr)
n.782+1718G>T
c.50536C>A (p.Pro16846Thr)
c.24430C>A (p.Pro8144Thr)
c.24289C>A (p.Pro8097Thr)
c.50332C>A (p.Pro16778Thr)
c.45730C>A (p.Pro15244Thr)
c.45727C>A (p.Pro15243Thr)
c.42769C>A (p.Pro14257Thr)
c.24385C>A (p.Pro8129Thr)
c.45880C>A (p.Pro15294Thr)
c.45877C>A (p.Pro15293Thr)
c.45310C>A (p.Pro15104Thr)
c.42652C>A (p.Pro14218Thr)
c.42571C>A (p.Pro14191Thr)
c.24334C>A (p.Pro8112Thr)
c.14188C>A (p.Pro4730Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178609985T>ACA349585737TTN,TTN-AS1c.43734A>T (p.Gln14578His)
c.24819A>T (p.Gln8273His)
c.24618A>T (p.Gln8206His)
c.24243A>T (p.Gln8081His)
c.51438A>T (p.Gln17146His)
c.46515A>T (p.Gln15505His)
n.782+1719T>A
c.50535A>T (p.Gln16845His)
c.24429A>T (p.Gln8143His)
c.24288A>T (p.Gln8096His)
c.50331A>T (p.Gln16777His)
c.45729A>T (p.Gln15243His)
c.45726A>T (p.Gln15242His)
c.42768A>T (p.Gln14256His)
c.24384A>T (p.Gln8128His)
c.45879A>T (p.Gln15293His)
c.45876A>T (p.Gln15292His)
c.45309A>T (p.Gln15103His)
c.42651A>T (p.Gln14217His)
c.42570A>T (p.Gln14190His)
c.24333A>T (p.Gln8111His)
c.14187A>T (p.Gln4729His)
2g.178609985T>CCA430272400TTN,TTN-AS1c.43734A>G (p.Gln14578=)
c.24819A>G (p.Gln8273=)
c.24618A>G (p.Gln8206=)
c.24243A>G (p.Gln8081=)
c.51438A>G (p.Gln17146=)
c.46515A>G (p.Gln15505=)
n.782+1719T>C
c.50535A>G (p.Gln16845=)
c.24429A>G (p.Gln8143=)
c.24288A>G (p.Gln8096=)
c.50331A>G (p.Gln16777=)
c.45729A>G (p.Gln15243=)
c.45726A>G (p.Gln15242=)
c.42768A>G (p.Gln14256=)
c.24384A>G (p.Gln8128=)
c.45879A>G (p.Gln15293=)
c.45876A>G (p.Gln15292=)
c.45309A>G (p.Gln15103=)
c.42651A>G (p.Gln14217=)
c.42570A>G (p.Gln14190=)
c.24333A>G (p.Gln8111=)
c.14187A>G (p.Gln4729=)
2g.178609985T>GCA349585740TTN,TTN-AS1c.43734A>C (p.Gln14578His)
c.24819A>C (p.Gln8273His)
c.24618A>C (p.Gln8206His)
c.24243A>C (p.Gln8081His)
c.51438A>C (p.Gln17146His)
c.46515A>C (p.Gln15505His)
n.782+1719T>G
c.50535A>C (p.Gln16845His)
c.24429A>C (p.Gln8143His)
c.24288A>C (p.Gln8096His)
c.50331A>C (p.Gln16777His)
c.45729A>C (p.Gln15243His)
c.45726A>C (p.Gln15242His)
c.42768A>C (p.Gln14256His)
c.24384A>C (p.Gln8128His)
c.45879A>C (p.Gln15293His)
c.45876A>C (p.Gln15292His)
c.45309A>C (p.Gln15103His)
c.42651A>C (p.Gln14217His)
c.42570A>C (p.Gln14190His)
c.24333A>C (p.Gln8111His)
c.14187A>C (p.Gln4729His)
2g.178609986T>ACA349585743TTN,TTN-AS1c.43733A>T (p.Gln14578Leu)
c.24818A>T (p.Gln8273Leu)
c.24617A>T (p.Gln8206Leu)
c.24242A>T (p.Gln8081Leu)
c.51437A>T (p.Gln17146Leu)
c.46514A>T (p.Gln15505Leu)
n.782+1720T>A
c.50534A>T (p.Gln16845Leu)
c.24428A>T (p.Gln8143Leu)
c.24287A>T (p.Gln8096Leu)
c.50330A>T (p.Gln16777Leu)
c.45728A>T (p.Gln15243Leu)
c.45725A>T (p.Gln15242Leu)
c.42767A>T (p.Gln14256Leu)
c.24383A>T (p.Gln8128Leu)
c.45878A>T (p.Gln15293Leu)
c.45875A>T (p.Gln15292Leu)
c.45308A>T (p.Gln15103Leu)
c.42650A>T (p.Gln14217Leu)
c.42569A>T (p.Gln14190Leu)
c.24332A>T (p.Gln8111Leu)
c.14186A>T (p.Gln4729Leu)
2g.178609986T>CCA10603979TTN,TTN-AS1c.43733A>G (p.Gln14578Arg)
c.24818A>G (p.Gln8273Arg)
c.24617A>G (p.Gln8206Arg)
c.24242A>G (p.Gln8081Arg)
c.51437A>G (p.Gln17146Arg)
c.46514A>G (p.Gln15505Arg)
n.782+1720T>C
c.50534A>G (p.Gln16845Arg)
c.24428A>G (p.Gln8143Arg)
c.24287A>G (p.Gln8096Arg)
c.50330A>G (p.Gln16777Arg)
c.45728A>G (p.Gln15243Arg)
c.45725A>G (p.Gln15242Arg)
c.42767A>G (p.Gln14256Arg)
c.24383A>G (p.Gln8128Arg)
c.45878A>G (p.Gln15293Arg)
c.45875A>G (p.Gln15292Arg)
c.45308A>G (p.Gln15103Arg)
c.42650A>G (p.Gln14217Arg)
c.42569A>G (p.Gln14190Arg)
c.24332A>G (p.Gln8111Arg)
c.14186A>G (p.Gln4729Arg)
 ClinVar dbSNP gnomAD v4
2g.178609986T>GCA349585745TTN,TTN-AS1c.43733A>C (p.Gln14578Pro)
c.24818A>C (p.Gln8273Pro)
c.24617A>C (p.Gln8206Pro)
c.24242A>C (p.Gln8081Pro)
c.51437A>C (p.Gln17146Pro)
c.46514A>C (p.Gln15505Pro)
n.782+1720T>G
c.50534A>C (p.Gln16845Pro)
c.24428A>C (p.Gln8143Pro)
c.24287A>C (p.Gln8096Pro)
c.50330A>C (p.Gln16777Pro)
c.45728A>C (p.Gln15243Pro)
c.45725A>C (p.Gln15242Pro)
c.42767A>C (p.Gln14256Pro)
c.24383A>C (p.Gln8128Pro)
c.45878A>C (p.Gln15293Pro)
c.45875A>C (p.Gln15292Pro)
c.45308A>C (p.Gln15103Pro)
c.42650A>C (p.Gln14217Pro)
c.42569A>C (p.Gln14190Pro)
c.24332A>C (p.Gln8111Pro)
c.14186A>C (p.Gln4729Pro)
2g.178609986T=CA1310547572TTN,TTN-AS1c.43733A= (p.Gln14578=)
c.24818A= (p.Gln8273=)
c.24617A= (p.Gln8206=)
c.24242A= (p.Gln8081=)
c.51437A= (p.Gln17146=)
c.46514A= (p.Gln15505=)
n.782+1720T=
c.50534A= (p.Gln16845=)
c.24428A= (p.Gln8143=)
c.24287A= (p.Gln8096=)
c.50330A= (p.Gln16777=)
c.45728A= (p.Gln15243=)
c.45725A= (p.Gln15242=)
c.42767A= (p.Gln14256=)
c.24383A= (p.Gln8128=)
c.45878A= (p.Gln15293=)
c.45875A= (p.Gln15292=)
c.45308A= (p.Gln15103=)
c.42650A= (p.Gln14217=)
c.42569A= (p.Gln14190=)
c.24332A= (p.Gln8111=)
c.14186A= (p.Gln4729=)
2g.178609987C>ACA349585749TTN,TTN-AS1c.43733-1G>T (n.43733-1G>T)
c.24818-1G>T (n.24818-1G>T)
c.24617-1G>T (n.24617-1G>T)
c.24242-1G>T (n.24242-1G>T)
c.51437-1G>T (n.51437-1G>T)
c.46514-1G>T (n.46514-1G>T)
n.782+1721C>A
c.50534-1G>T (n.50534-1G>T)
c.24428-1G>T (n.24428-1G>T)
c.24287-1G>T (n.24287-1G>T)
c.50330-1G>T (n.50330-1G>T)
c.45728-1G>T (n.45728-1G>T)
c.45725-1G>T (n.45725-1G>T)
c.42767-1G>T (n.42767-1G>T)
c.24383-1G>T (n.24383-1G>T)
c.45878-1G>T (n.45878-1G>T)
c.45875-1G>T (n.45875-1G>T)
c.45308-1G>T (n.45308-1G>T)
c.42650-1G>T (n.42650-1G>T)
c.42569-1G>T (n.42569-1G>T)
c.24332-1G>T (n.24332-1G>T)
c.14186-1G>T (n.14186-1G>T)
2g.178609987C=CA1310547573TTN,TTN-AS1c.43733-1G= (n.43733-1G=)
c.24818-1G= (n.24818-1G=)
c.24617-1G= (n.24617-1G=)
c.24242-1G= (n.24242-1G=)
c.51437-1G= (n.51437-1G=)
c.46514-1G= (n.46514-1G=)
n.782+1721C=
c.50534-1G= (n.50534-1G=)
c.24428-1G= (n.24428-1G=)
c.24287-1G= (n.24287-1G=)
c.50330-1G= (n.50330-1G=)
c.45728-1G= (n.45728-1G=)
c.45725-1G= (n.45725-1G=)
c.42767-1G= (n.42767-1G=)
c.24383-1G= (n.24383-1G=)
c.45878-1G= (n.45878-1G=)
c.45875-1G= (n.45875-1G=)
c.45308-1G= (n.45308-1G=)
c.42650-1G= (n.42650-1G=)
c.42569-1G= (n.42569-1G=)
c.24332-1G= (n.24332-1G=)
c.14186-1G= (n.14186-1G=)
2g.178609987C>GCA349585751TTN,TTN-AS1c.43733-1G>C (n.43733-1G>C)
c.24818-1G>C (n.24818-1G>C)
c.24617-1G>C (n.24617-1G>C)
c.24242-1G>C (n.24242-1G>C)
c.51437-1G>C (n.51437-1G>C)
c.46514-1G>C (n.46514-1G>C)
n.782+1721C>G
c.50534-1G>C (n.50534-1G>C)
c.24428-1G>C (n.24428-1G>C)
c.24287-1G>C (n.24287-1G>C)
c.50330-1G>C (n.50330-1G>C)
c.45728-1G>C (n.45728-1G>C)
c.45725-1G>C (n.45725-1G>C)
c.42767-1G>C (n.42767-1G>C)
c.24383-1G>C (n.24383-1G>C)
c.45878-1G>C (n.45878-1G>C)
c.45875-1G>C (n.45875-1G>C)
c.45308-1G>C (n.45308-1G>C)
c.42650-1G>C (n.42650-1G>C)
c.42569-1G>C (n.42569-1G>C)
c.24332-1G>C (n.24332-1G>C)
c.14186-1G>C (n.14186-1G>C)
 ClinVar dbSNP
2g.178609987C>TCA349585747TTN,TTN-AS1c.43733-1G>A (n.43733-1G>A)
c.24818-1G>A (n.24818-1G>A)
c.24617-1G>A (n.24617-1G>A)
c.24242-1G>A (n.24242-1G>A)
c.51437-1G>A (n.51437-1G>A)
c.46514-1G>A (n.46514-1G>A)
n.782+1721C>T
c.50534-1G>A (n.50534-1G>A)
c.24428-1G>A (n.24428-1G>A)
c.24287-1G>A (n.24287-1G>A)
c.50330-1G>A (n.50330-1G>A)
c.45728-1G>A (n.45728-1G>A)
c.45725-1G>A (n.45725-1G>A)
c.42767-1G>A (n.42767-1G>A)
c.24383-1G>A (n.24383-1G>A)
c.45878-1G>A (n.45878-1G>A)
c.45875-1G>A (n.45875-1G>A)
c.45308-1G>A (n.45308-1G>A)
c.42650-1G>A (n.42650-1G>A)
c.42569-1G>A (n.42569-1G>A)
c.24332-1G>A (n.24332-1G>A)
c.14186-1G>A (n.14186-1G>A)
2g.178609988T>ACA349585754TTN,TTN-AS1c.43733-2A>T (n.43733-2A>T)
c.24818-2A>T (n.24818-2A>T)
c.24617-2A>T (n.24617-2A>T)
c.24242-2A>T (n.24242-2A>T)
c.51437-2A>T (n.51437-2A>T)
c.46514-2A>T (n.46514-2A>T)
n.782+1722T>A
c.50534-2A>T (n.50534-2A>T)
c.24428-2A>T (n.24428-2A>T)
c.24287-2A>T (n.24287-2A>T)
c.50330-2A>T (n.50330-2A>T)
c.45728-2A>T (n.45728-2A>T)
c.45725-2A>T (n.45725-2A>T)
c.42767-2A>T (n.42767-2A>T)
c.24383-2A>T (n.24383-2A>T)
c.45878-2A>T (n.45878-2A>T)
c.45875-2A>T (n.45875-2A>T)
c.45308-2A>T (n.45308-2A>T)
c.42650-2A>T (n.42650-2A>T)
c.42569-2A>T (n.42569-2A>T)
c.24332-2A>T (n.24332-2A>T)
c.14186-2A>T (n.14186-2A>T)
2g.178609988T>CCA349585758TTN,TTN-AS1c.43733-2A>G (n.43733-2A>G)
c.24818-2A>G (n.24818-2A>G)
c.24617-2A>G (n.24617-2A>G)
c.24242-2A>G (n.24242-2A>G)
c.51437-2A>G (n.51437-2A>G)
c.46514-2A>G (n.46514-2A>G)
n.782+1722T>C
c.50534-2A>G (n.50534-2A>G)
c.24428-2A>G (n.24428-2A>G)
c.24287-2A>G (n.24287-2A>G)
c.50330-2A>G (n.50330-2A>G)
c.45728-2A>G (n.45728-2A>G)
c.45725-2A>G (n.45725-2A>G)
c.42767-2A>G (n.42767-2A>G)
c.24383-2A>G (n.24383-2A>G)
c.45878-2A>G (n.45878-2A>G)
c.45875-2A>G (n.45875-2A>G)
c.45308-2A>G (n.45308-2A>G)
c.42650-2A>G (n.42650-2A>G)
c.42569-2A>G (n.42569-2A>G)
c.24332-2A>G (n.24332-2A>G)
c.14186-2A>G (n.14186-2A>G)
 dbSNP
2g.178609988T>GCA349585761TTN,TTN-AS1c.43733-2A>C (n.43733-2A>C)
c.24818-2A>C (n.24818-2A>C)
c.24617-2A>C (n.24617-2A>C)
c.24242-2A>C (n.24242-2A>C)
c.51437-2A>C (n.51437-2A>C)
c.46514-2A>C (n.46514-2A>C)
n.782+1722T>G
c.50534-2A>C (n.50534-2A>C)
c.24428-2A>C (n.24428-2A>C)
c.24287-2A>C (n.24287-2A>C)
c.50330-2A>C (n.50330-2A>C)
c.45728-2A>C (n.45728-2A>C)
c.45725-2A>C (n.45725-2A>C)
c.42767-2A>C (n.42767-2A>C)
c.24383-2A>C (n.24383-2A>C)
c.45878-2A>C (n.45878-2A>C)
c.45875-2A>C (n.45875-2A>C)
c.45308-2A>C (n.45308-2A>C)
c.42650-2A>C (n.42650-2A>C)
c.42569-2A>C (n.42569-2A>C)
c.24332-2A>C (n.24332-2A>C)
c.14186-2A>C (n.14186-2A>C)
2g.178609988T=CA1310547574TTN,TTN-AS1c.43733-2A= (n.43733-2A=)
c.24818-2A= (n.24818-2A=)
c.24617-2A= (n.24617-2A=)
c.24242-2A= (n.24242-2A=)
c.51437-2A= (n.51437-2A=)
c.46514-2A= (n.46514-2A=)
n.782+1722T=
c.50534-2A= (n.50534-2A=)
c.24428-2A= (n.24428-2A=)
c.24287-2A= (n.24287-2A=)
c.50330-2A= (n.50330-2A=)
c.45728-2A= (n.45728-2A=)
c.45725-2A= (n.45725-2A=)
c.42767-2A= (n.42767-2A=)
c.24383-2A= (n.24383-2A=)
c.45878-2A= (n.45878-2A=)
c.45875-2A= (n.45875-2A=)
c.45308-2A= (n.45308-2A=)
c.42650-2A= (n.42650-2A=)
c.42569-2A= (n.42569-2A=)
c.24332-2A= (n.24332-2A=)
c.14186-2A= (n.14186-2A=)
2g.178609989G>ACA1039713188TTN,TTN-AS1c.43733-3C>T (n.43733-3C>T)
c.24818-3C>T (n.24818-3C>T)
c.24617-3C>T (n.24617-3C>T)
c.24242-3C>T (n.24242-3C>T)
c.51437-3C>T (n.51437-3C>T)
c.46514-3C>T (n.46514-3C>T)
n.782+1723G>A
c.50534-3C>T (n.50534-3C>T)
c.24428-3C>T (n.24428-3C>T)
c.24287-3C>T (n.24287-3C>T)
c.50330-3C>T (n.50330-3C>T)
c.45728-3C>T (n.45728-3C>T)
c.45725-3C>T (n.45725-3C>T)
c.42767-3C>T (n.42767-3C>T)
c.24383-3C>T (n.24383-3C>T)
c.45878-3C>T (n.45878-3C>T)
c.45875-3C>T (n.45875-3C>T)
c.45308-3C>T (n.45308-3C>T)
c.42650-3C>T (n.42650-3C>T)
c.42569-3C>T (n.42569-3C>T)
c.24332-3C>T (n.24332-3C>T)
c.14186-3C>T (n.14186-3C>T)
 gnomAD v3 gnomAD v4
2g.178609989G=CA1310547575TTN,TTN-AS1c.43733-3C= (n.43733-3C=)
c.24818-3C= (n.24818-3C=)
c.24617-3C= (n.24617-3C=)
c.24242-3C= (n.24242-3C=)
c.51437-3C= (n.51437-3C=)
c.46514-3C= (n.46514-3C=)
n.782+1723G=
c.50534-3C= (n.50534-3C=)
c.24428-3C= (n.24428-3C=)
c.24287-3C= (n.24287-3C=)
c.50330-3C= (n.50330-3C=)
c.45728-3C= (n.45728-3C=)
c.45725-3C= (n.45725-3C=)
c.42767-3C= (n.42767-3C=)
c.24383-3C= (n.24383-3C=)
c.45878-3C= (n.45878-3C=)
c.45875-3C= (n.45875-3C=)
c.45308-3C= (n.45308-3C=)
c.42650-3C= (n.42650-3C=)
c.42569-3C= (n.42569-3C=)
c.24332-3C= (n.24332-3C=)
c.14186-3C= (n.14186-3C=)
2g.178609989G>TCA538435838TTN,TTN-AS1c.43733-3C>A (n.43733-3C>A)
c.24818-3C>A (n.24818-3C>A)
c.24617-3C>A (n.24617-3C>A)
c.24242-3C>A (n.24242-3C>A)
c.51437-3C>A (n.51437-3C>A)
c.46514-3C>A (n.46514-3C>A)
n.782+1723G>T
c.50534-3C>A (n.50534-3C>A)
c.24428-3C>A (n.24428-3C>A)
c.24287-3C>A (n.24287-3C>A)
c.50330-3C>A (n.50330-3C>A)
c.45728-3C>A (n.45728-3C>A)
c.45725-3C>A (n.45725-3C>A)
c.42767-3C>A (n.42767-3C>A)
c.24383-3C>A (n.24383-3C>A)
c.45878-3C>A (n.45878-3C>A)
c.45875-3C>A (n.45875-3C>A)
c.45308-3C>A (n.45308-3C>A)
c.42650-3C>A (n.42650-3C>A)
c.42569-3C>A (n.42569-3C>A)
c.24332-3C>A (n.24332-3C>A)
c.14186-3C>A (n.14186-3C>A)
 dbSNP gnomAD v2
2g.178609990A>CCA2506756702TTN,TTN-AS1c.43733-4T>G (n.43733-4T>G)
c.24818-4T>G (n.24818-4T>G)
c.24617-4T>G (n.24617-4T>G)
c.24242-4T>G (n.24242-4T>G)
c.51437-4T>G (n.51437-4T>G)
c.46514-4T>G (n.46514-4T>G)
n.782+1724A>C
c.50534-4T>G (n.50534-4T>G)
c.24428-4T>G (n.24428-4T>G)
c.24287-4T>G (n.24287-4T>G)
c.50330-4T>G (n.50330-4T>G)
c.45728-4T>G (n.45728-4T>G)
c.45725-4T>G (n.45725-4T>G)
c.42767-4T>G (n.42767-4T>G)
c.24383-4T>G (n.24383-4T>G)
c.45878-4T>G (n.45878-4T>G)
c.45875-4T>G (n.45875-4T>G)
c.45308-4T>G (n.45308-4T>G)
c.42650-4T>G (n.42650-4T>G)
c.42569-4T>G (n.42569-4T>G)
c.24332-4T>G (n.24332-4T>G)
c.14186-4T>G (n.14186-4T>G)
2g.178609991A>GCA2662131622TTN,TTN-AS1c.43733-5T>C (n.43733-5T>C)
c.24818-5T>C (n.24818-5T>C)
c.24617-5T>C (n.24617-5T>C)
c.24242-5T>C (n.24242-5T>C)
c.51437-5T>C (n.51437-5T>C)
c.46514-5T>C (n.46514-5T>C)
n.782+1725A>G
c.50534-5T>C (n.50534-5T>C)
c.24428-5T>C (n.24428-5T>C)
c.24287-5T>C (n.24287-5T>C)
c.50330-5T>C (n.50330-5T>C)
c.45728-5T>C (n.45728-5T>C)
c.45725-5T>C (n.45725-5T>C)
c.42767-5T>C (n.42767-5T>C)
c.24383-5T>C (n.24383-5T>C)
c.45878-5T>C (n.45878-5T>C)
c.45875-5T>C (n.45875-5T>C)
c.45308-5T>C (n.45308-5T>C)
c.42650-5T>C (n.42650-5T>C)
c.42569-5T>C (n.42569-5T>C)
c.24332-5T>C (n.24332-5T>C)
c.14186-5T>C (n.14186-5T>C)
 gnomAD v4
2g.178609991A>TCA2662131623TTN,TTN-AS1c.43733-5T>A (n.43733-5T>A)
c.24818-5T>A (n.24818-5T>A)
c.24617-5T>A (n.24617-5T>A)
c.24242-5T>A (n.24242-5T>A)
c.51437-5T>A (n.51437-5T>A)
c.46514-5T>A (n.46514-5T>A)
n.782+1725A>T
c.50534-5T>A (n.50534-5T>A)
c.24428-5T>A (n.24428-5T>A)
c.24287-5T>A (n.24287-5T>A)
c.50330-5T>A (n.50330-5T>A)
c.45728-5T>A (n.45728-5T>A)
c.45725-5T>A (n.45725-5T>A)
c.42767-5T>A (n.42767-5T>A)
c.24383-5T>A (n.24383-5T>A)
c.45878-5T>A (n.45878-5T>A)
c.45875-5T>A (n.45875-5T>A)
c.45308-5T>A (n.45308-5T>A)
c.42650-5T>A (n.42650-5T>A)
c.42569-5T>A (n.42569-5T>A)
c.24332-5T>A (n.24332-5T>A)
c.14186-5T>A (n.14186-5T>A)
 gnomAD v4
2g.178609992G>ACA1039713189TTN,TTN-AS1c.43733-6C>T (n.43733-6C>T)
c.24818-6C>T (n.24818-6C>T)
c.24617-6C>T (n.24617-6C>T)
c.24242-6C>T (n.24242-6C>T)
c.51437-6C>T (n.51437-6C>T)
c.46514-6C>T (n.46514-6C>T)
n.782+1726G>A
c.50534-6C>T (n.50534-6C>T)
c.24428-6C>T (n.24428-6C>T)
c.24287-6C>T (n.24287-6C>T)
c.50330-6C>T (n.50330-6C>T)
c.45728-6C>T (n.45728-6C>T)
c.45725-6C>T (n.45725-6C>T)
c.42767-6C>T (n.42767-6C>T)
c.24383-6C>T (n.24383-6C>T)
c.45878-6C>T (n.45878-6C>T)
c.45875-6C>T (n.45875-6C>T)
c.45308-6C>T (n.45308-6C>T)
c.42650-6C>T (n.42650-6C>T)
c.42569-6C>T (n.42569-6C>T)
c.24332-6C>T (n.24332-6C>T)
c.14186-6C>T (n.14186-6C>T)
 gnomAD v3 gnomAD v4
2g.178609995C>ACA1039713190TTN,TTN-AS1c.43733-9G>T (n.43733-9G>T)
c.24818-9G>T (n.24818-9G>T)
c.24617-9G>T (n.24617-9G>T)
c.24242-9G>T (n.24242-9G>T)
c.51437-9G>T (n.51437-9G>T)
c.46514-9G>T (n.46514-9G>T)
n.782+1729C>A
c.50534-9G>T (n.50534-9G>T)
c.24428-9G>T (n.24428-9G>T)
c.24287-9G>T (n.24287-9G>T)
c.50330-9G>T (n.50330-9G>T)
c.45728-9G>T (n.45728-9G>T)
c.45725-9G>T (n.45725-9G>T)
c.42767-9G>T (n.42767-9G>T)
c.24383-9G>T (n.24383-9G>T)
c.45878-9G>T (n.45878-9G>T)
c.45875-9G>T (n.45875-9G>T)
c.45308-9G>T (n.45308-9G>T)
c.42650-9G>T (n.42650-9G>T)
c.42569-9G>T (n.42569-9G>T)
c.24332-9G>T (n.24332-9G>T)
c.14186-9G>T (n.14186-9G>T)
 gnomAD v3 gnomAD v4
2g.178609995C=CA1310547576TTN,TTN-AS1c.43733-9G= (n.43733-9G=)
c.24818-9G= (n.24818-9G=)
c.24617-9G= (n.24617-9G=)
c.24242-9G= (n.24242-9G=)
c.51437-9G= (n.51437-9G=)
c.46514-9G= (n.46514-9G=)
n.782+1729C=
c.50534-9G= (n.50534-9G=)
c.24428-9G= (n.24428-9G=)
c.24287-9G= (n.24287-9G=)
c.50330-9G= (n.50330-9G=)
c.45728-9G= (n.45728-9G=)
c.45725-9G= (n.45725-9G=)
c.42767-9G= (n.42767-9G=)
c.24383-9G= (n.24383-9G=)
c.45878-9G= (n.45878-9G=)
c.45875-9G= (n.45875-9G=)
c.45308-9G= (n.45308-9G=)
c.42650-9G= (n.42650-9G=)
c.42569-9G= (n.42569-9G=)
c.24332-9G= (n.24332-9G=)
c.14186-9G= (n.14186-9G=)
2g.178609995C>GCA2577170711TTN,TTN-AS1c.43733-9G>C (n.43733-9G>C)
c.24818-9G>C (n.24818-9G>C)
c.24617-9G>C (n.24617-9G>C)
c.24242-9G>C (n.24242-9G>C)
c.51437-9G>C (n.51437-9G>C)
c.46514-9G>C (n.46514-9G>C)
n.782+1729C>G
c.50534-9G>C (n.50534-9G>C)
c.24428-9G>C (n.24428-9G>C)
c.24287-9G>C (n.24287-9G>C)
c.50330-9G>C (n.50330-9G>C)
c.45728-9G>C (n.45728-9G>C)
c.45725-9G>C (n.45725-9G>C)
c.42767-9G>C (n.42767-9G>C)
c.24383-9G>C (n.24383-9G>C)
c.45878-9G>C (n.45878-9G>C)
c.45875-9G>C (n.45875-9G>C)
c.45308-9G>C (n.45308-9G>C)
c.42650-9G>C (n.42650-9G>C)
c.42569-9G>C (n.42569-9G>C)
c.24332-9G>C (n.24332-9G>C)
c.14186-9G>C (n.14186-9G>C)
 gnomAD v4
2g.178609995C>TCA1994188TTN,TTN-AS1c.43733-9G>A (n.43733-9G>A)
c.24818-9G>A (n.24818-9G>A)
c.24617-9G>A (n.24617-9G>A)
c.24242-9G>A (n.24242-9G>A)
c.51437-9G>A (n.51437-9G>A)
c.46514-9G>A (n.46514-9G>A)
n.782+1729C>T
c.50534-9G>A (n.50534-9G>A)
c.24428-9G>A (n.24428-9G>A)
c.24287-9G>A (n.24287-9G>A)
c.50330-9G>A (n.50330-9G>A)
c.45728-9G>A (n.45728-9G>A)
c.45725-9G>A (n.45725-9G>A)
c.42767-9G>A (n.42767-9G>A)
c.24383-9G>A (n.24383-9G>A)
c.45878-9G>A (n.45878-9G>A)
c.45875-9G>A (n.45875-9G>A)
c.45308-9G>A (n.45308-9G>A)
c.42650-9G>A (n.42650-9G>A)
c.42569-9G>A (n.42569-9G>A)
c.24332-9G>A (n.24332-9G>A)
c.14186-9G>A (n.14186-9G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178609996A>CCA2662131624TTN,TTN-AS1c.43733-10T>G (n.43733-10T>G)
c.24818-10T>G (n.24818-10T>G)
c.24617-10T>G (n.24617-10T>G)
c.24242-10T>G (n.24242-10T>G)
c.51437-10T>G (n.51437-10T>G)
c.46514-10T>G (n.46514-10T>G)
n.782+1730A>C
c.50534-10T>G (n.50534-10T>G)
c.24428-10T>G (n.24428-10T>G)
c.24287-10T>G (n.24287-10T>G)
c.50330-10T>G (n.50330-10T>G)
c.45728-10T>G (n.45728-10T>G)
c.45725-10T>G (n.45725-10T>G)
c.42767-10T>G (n.42767-10T>G)
c.24383-10T>G (n.24383-10T>G)
c.45878-10T>G (n.45878-10T>G)
c.45875-10T>G (n.45875-10T>G)
c.45308-10T>G (n.45308-10T>G)
c.42650-10T>G (n.42650-10T>G)
c.42569-10T>G (n.42569-10T>G)
c.24332-10T>G (n.24332-10T>G)
c.14186-10T>G (n.14186-10T>G)
 gnomAD v4
2g.178609997A=CA1310547577TTN,TTN-AS1c.43733-11T= (n.43733-11T=)
c.24818-11T= (n.24818-11T=)
c.24617-11T= (n.24617-11T=)
c.24242-11T= (n.24242-11T=)
c.51437-11T= (n.51437-11T=)
c.46514-11T= (n.46514-11T=)
n.782+1731A=
c.50534-11T= (n.50534-11T=)
c.24428-11T= (n.24428-11T=)
c.24287-11T= (n.24287-11T=)
c.50330-11T= (n.50330-11T=)
c.45728-11T= (n.45728-11T=)
c.45725-11T= (n.45725-11T=)
c.42767-11T= (n.42767-11T=)
c.24383-11T= (n.24383-11T=)
c.45878-11T= (n.45878-11T=)
c.45875-11T= (n.45875-11T=)
c.45308-11T= (n.45308-11T=)
c.42650-11T= (n.42650-11T=)
c.42569-11T= (n.42569-11T=)
c.24332-11T= (n.24332-11T=)
c.14186-11T= (n.14186-11T=)
2g.178609997A>TCA1994189TTN,TTN-AS1c.43733-11T>A (n.43733-11T>A)
c.24818-11T>A (n.24818-11T>A)
c.24617-11T>A (n.24617-11T>A)
c.24242-11T>A (n.24242-11T>A)
c.51437-11T>A (n.51437-11T>A)
c.46514-11T>A (n.46514-11T>A)
n.782+1731A>T
c.50534-11T>A (n.50534-11T>A)
c.24428-11T>A (n.24428-11T>A)
c.24287-11T>A (n.24287-11T>A)
c.50330-11T>A (n.50330-11T>A)
c.45728-11T>A (n.45728-11T>A)
c.45725-11T>A (n.45725-11T>A)
c.42767-11T>A (n.42767-11T>A)
c.24383-11T>A (n.24383-11T>A)
c.45878-11T>A (n.45878-11T>A)
c.45875-11T>A (n.45875-11T>A)
c.45308-11T>A (n.45308-11T>A)
c.42650-11T>A (n.42650-11T>A)
c.42569-11T>A (n.42569-11T>A)
c.24332-11T>A (n.24332-11T>A)
c.14186-11T>A (n.14186-11T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178609998G>ACA1039713191TTN,TTN-AS1c.43733-12C>T (n.43733-12C>T)
c.24818-12C>T (n.24818-12C>T)
c.24617-12C>T (n.24617-12C>T)
c.24242-12C>T (n.24242-12C>T)
c.51437-12C>T (n.51437-12C>T)
c.46514-12C>T (n.46514-12C>T)
n.782+1732G>A
c.50534-12C>T (n.50534-12C>T)
c.24428-12C>T (n.24428-12C>T)
c.24287-12C>T (n.24287-12C>T)
c.50330-12C>T (n.50330-12C>T)
c.45728-12C>T (n.45728-12C>T)
c.45725-12C>T (n.45725-12C>T)
c.42767-12C>T (n.42767-12C>T)
c.24383-12C>T (n.24383-12C>T)
c.45878-12C>T (n.45878-12C>T)
c.45875-12C>T (n.45875-12C>T)
c.45308-12C>T (n.45308-12C>T)
c.42650-12C>T (n.42650-12C>T)
c.42569-12C>T (n.42569-12C>T)
c.24332-12C>T (n.24332-12C>T)
c.14186-12C>T (n.14186-12C>T)
 gnomAD v3 gnomAD v4
2g.178609998_178609999delinsGACA1310547578TTN,TTN-AS1c.43733-13_43733-12delinsTC (n.43733-13_43733-12delinsTC)
c.24818-13_24818-12delinsTC (n.24818-13_24818-12delinsTC)
c.24617-13_24617-12delinsTC (n.24617-13_24617-12delinsTC)
c.24242-13_24242-12delinsTC (n.24242-13_24242-12delinsTC)
c.51437-13_51437-12delinsTC (n.51437-13_51437-12delinsTC)
c.46514-13_46514-12delinsTC (n.46514-13_46514-12delinsTC)
n.782+1732_782+1733delinsGA
c.50534-13_50534-12delinsTC (n.50534-13_50534-12delinsTC)
c.24428-13_24428-12delinsTC (n.24428-13_24428-12delinsTC)
c.24287-13_24287-12delinsTC (n.24287-13_24287-12delinsTC)
c.50330-13_50330-12delinsTC (n.50330-13_50330-12delinsTC)
c.45728-13_45728-12delinsTC (n.45728-13_45728-12delinsTC)
c.45725-13_45725-12delinsTC (n.45725-13_45725-12delinsTC)
c.42767-13_42767-12delinsTC (n.42767-13_42767-12delinsTC)
c.24383-13_24383-12delinsTC (n.24383-13_24383-12delinsTC)
c.45878-13_45878-12delinsTC (n.45878-13_45878-12delinsTC)
c.45875-13_45875-12delinsTC (n.45875-13_45875-12delinsTC)
c.45308-13_45308-12delinsTC (n.45308-13_45308-12delinsTC)
c.42650-13_42650-12delinsTC (n.42650-13_42650-12delinsTC)
c.42569-13_42569-12delinsTC (n.42569-13_42569-12delinsTC)
c.24332-13_24332-12delinsTC (n.24332-13_24332-12delinsTC)
c.14186-13_14186-12delinsTC (n.14186-13_14186-12delinsTC)
2g.178609999A>GCA2740096129TTN,TTN-AS1c.43733-13T>C (n.43733-13T>C)
c.24818-13T>C (n.24818-13T>C)
c.24617-13T>C (n.24617-13T>C)
c.24242-13T>C (n.24242-13T>C)
c.51437-13T>C (n.51437-13T>C)
c.46514-13T>C (n.46514-13T>C)
n.782+1733A>G
c.50534-13T>C (n.50534-13T>C)
c.24428-13T>C (n.24428-13T>C)
c.24287-13T>C (n.24287-13T>C)
c.50330-13T>C (n.50330-13T>C)
c.45728-13T>C (n.45728-13T>C)
c.45725-13T>C (n.45725-13T>C)
c.42767-13T>C (n.42767-13T>C)
c.24383-13T>C (n.24383-13T>C)
c.45878-13T>C (n.45878-13T>C)
c.45875-13T>C (n.45875-13T>C)
c.45308-13T>C (n.45308-13T>C)
c.42650-13T>C (n.42650-13T>C)
c.42569-13T>C (n.42569-13T>C)
c.24332-13T>C (n.24332-13T>C)
c.14186-13T>C (n.14186-13T>C)
 ClinVar
2g.178610005dupCA1994191TTN,TTN-AS1c.43733-13dup (n.43733-13dup)
c.24818-13dup (n.24818-13dup)
c.24617-13dup (n.24617-13dup)
c.24242-13dup (n.24242-13dup)
c.51437-13dup (n.51437-13dup)
c.46514-13dup (n.46514-13dup)
n.782+1739dup
c.50534-13dup (n.50534-13dup)
c.24428-13dup (n.24428-13dup)
c.24287-13dup (n.24287-13dup)
c.50330-13dup (n.50330-13dup)
c.45728-13dup (n.45728-13dup)
c.45725-13dup (n.45725-13dup)
c.42767-13dup (n.42767-13dup)
c.24383-13dup (n.24383-13dup)
c.45878-13dup (n.45878-13dup)
c.45875-13dup (n.45875-13dup)
c.45308-13dup (n.45308-13dup)
c.42650-13dup (n.42650-13dup)
c.42569-13dup (n.42569-13dup)
c.24332-13dup (n.24332-13dup)
c.14186-13dup (n.14186-13dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.178610005delCA1994190TTN,TTN-AS1c.43733-13del (n.43733-13del)
c.24818-13del (n.24818-13del)
c.24617-13del (n.24617-13del)
c.24242-13del (n.24242-13del)
c.51437-13del (n.51437-13del)
c.46514-13del (n.46514-13del)
n.782+1739del
c.50534-13del (n.50534-13del)
c.24428-13del (n.24428-13del)
c.24287-13del (n.24287-13del)
c.50330-13del (n.50330-13del)
c.45728-13del (n.45728-13del)
c.45725-13del (n.45725-13del)
c.42767-13del (n.42767-13del)
c.24383-13del (n.24383-13del)
c.45878-13del (n.45878-13del)
c.45875-13del (n.45875-13del)
c.45308-13del (n.45308-13del)
c.42650-13del (n.42650-13del)
c.42569-13del (n.42569-13del)
c.24332-13del (n.24332-13del)
c.14186-13del (n.14186-13del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178610003A=CA1310547579TTN,TTN-AS1c.43733-17T= (n.43733-17T=)
c.24818-17T= (n.24818-17T=)
c.24617-17T= (n.24617-17T=)
c.24242-17T= (n.24242-17T=)
c.51437-17T= (n.51437-17T=)
c.46514-17T= (n.46514-17T=)
n.782+1737A=
c.50534-17T= (n.50534-17T=)
c.24428-17T= (n.24428-17T=)
c.24287-17T= (n.24287-17T=)
c.50330-17T= (n.50330-17T=)
c.45728-17T= (n.45728-17T=)
c.45725-17T= (n.45725-17T=)
c.42767-17T= (n.42767-17T=)
c.24383-17T= (n.24383-17T=)
c.45878-17T= (n.45878-17T=)
c.45875-17T= (n.45875-17T=)
c.45308-17T= (n.45308-17T=)
c.42650-17T= (n.42650-17T=)
c.42569-17T= (n.42569-17T=)
c.24332-17T= (n.24332-17T=)
c.14186-17T= (n.14186-17T=)
2g.178610003A>GCA60983981TTN,TTN-AS1c.43733-17T>C (n.43733-17T>C)
c.24818-17T>C (n.24818-17T>C)
c.24617-17T>C (n.24617-17T>C)
c.24242-17T>C (n.24242-17T>C)
c.51437-17T>C (n.51437-17T>C)
c.46514-17T>C (n.46514-17T>C)
n.782+1737A>G
c.50534-17T>C (n.50534-17T>C)
c.24428-17T>C (n.24428-17T>C)
c.24287-17T>C (n.24287-17T>C)
c.50330-17T>C (n.50330-17T>C)
c.45728-17T>C (n.45728-17T>C)
c.45725-17T>C (n.45725-17T>C)
c.42767-17T>C (n.42767-17T>C)
c.24383-17T>C (n.24383-17T>C)
c.45878-17T>C (n.45878-17T>C)
c.45875-17T>C (n.45875-17T>C)
c.45308-17T>C (n.45308-17T>C)
c.42650-17T>C (n.42650-17T>C)
c.42569-17T>C (n.42569-17T>C)
c.24332-17T>C (n.24332-17T>C)
c.14186-17T>C (n.14186-17T>C)
 dbSNP
2g.178610003A>TCA1310547580TTN,TTN-AS1c.43733-17T>A (n.43733-17T>A)
c.24818-17T>A (n.24818-17T>A)
c.24617-17T>A (n.24617-17T>A)
c.24242-17T>A (n.24242-17T>A)
c.51437-17T>A (n.51437-17T>A)
c.46514-17T>A (n.46514-17T>A)
n.782+1737A>T
c.50534-17T>A (n.50534-17T>A)
c.24428-17T>A (n.24428-17T>A)
c.24287-17T>A (n.24287-17T>A)
c.50330-17T>A (n.50330-17T>A)
c.45728-17T>A (n.45728-17T>A)
c.45725-17T>A (n.45725-17T>A)
c.42767-17T>A (n.42767-17T>A)
c.24383-17T>A (n.24383-17T>A)
c.45878-17T>A (n.45878-17T>A)
c.45875-17T>A (n.45875-17T>A)
c.45308-17T>A (n.45308-17T>A)
c.42650-17T>A (n.42650-17T>A)
c.42569-17T>A (n.42569-17T>A)
c.24332-17T>A (n.24332-17T>A)
c.14186-17T>A (n.14186-17T>A)
 ClinVar dbSNP gnomAD v4
2g.178610005A>GCA2662131625TTN,TTN-AS1c.43733-19T>C (n.43733-19T>C)
c.24818-19T>C (n.24818-19T>C)
c.24617-19T>C (n.24617-19T>C)
c.24242-19T>C (n.24242-19T>C)
c.51437-19T>C (n.51437-19T>C)
c.46514-19T>C (n.46514-19T>C)
n.782+1739A>G
c.50534-19T>C (n.50534-19T>C)
c.24428-19T>C (n.24428-19T>C)
c.24287-19T>C (n.24287-19T>C)
c.50330-19T>C (n.50330-19T>C)
c.45728-19T>C (n.45728-19T>C)
c.45725-19T>C (n.45725-19T>C)
c.42767-19T>C (n.42767-19T>C)
c.24383-19T>C (n.24383-19T>C)
c.45878-19T>C (n.45878-19T>C)
c.45875-19T>C (n.45875-19T>C)
c.45308-19T>C (n.45308-19T>C)
c.42650-19T>C (n.42650-19T>C)
c.42569-19T>C (n.42569-19T>C)
c.24332-19T>C (n.24332-19T>C)
c.14186-19T>C (n.14186-19T>C)
 gnomAD v4
2g.178610006T>CCA2577170714TTN,TTN-AS1c.43733-20A>G (n.43733-20A>G)
c.24818-20A>G (n.24818-20A>G)
c.24617-20A>G (n.24617-20A>G)
c.24242-20A>G (n.24242-20A>G)
c.51437-20A>G (n.51437-20A>G)
c.46514-20A>G (n.46514-20A>G)
n.782+1740T>C
c.50534-20A>G (n.50534-20A>G)
c.24428-20A>G (n.24428-20A>G)
c.24287-20A>G (n.24287-20A>G)
c.50330-20A>G (n.50330-20A>G)
c.45728-20A>G (n.45728-20A>G)
c.45725-20A>G (n.45725-20A>G)
c.42767-20A>G (n.42767-20A>G)
c.24383-20A>G (n.24383-20A>G)
c.45878-20A>G (n.45878-20A>G)
c.45875-20A>G (n.45875-20A>G)
c.45308-20A>G (n.45308-20A>G)
c.42650-20A>G (n.42650-20A>G)
c.42569-20A>G (n.42569-20A>G)
c.24332-20A>G (n.24332-20A>G)
c.14186-20A>G (n.14186-20A>G)
2g.178610009T>CCA538435839TTN,TTN-AS1c.43733-23A>G (n.43733-23A>G)
c.24818-23A>G (n.24818-23A>G)
c.24617-23A>G (n.24617-23A>G)
c.24242-23A>G (n.24242-23A>G)
c.51437-23A>G (n.51437-23A>G)
c.46514-23A>G (n.46514-23A>G)
n.782+1743T>C
c.50534-23A>G (n.50534-23A>G)
c.24428-23A>G (n.24428-23A>G)
c.24287-23A>G (n.24287-23A>G)
c.50330-23A>G (n.50330-23A>G)
c.45728-23A>G (n.45728-23A>G)
c.45725-23A>G (n.45725-23A>G)
c.42767-23A>G (n.42767-23A>G)
c.24383-23A>G (n.24383-23A>G)
c.45878-23A>G (n.45878-23A>G)
c.45875-23A>G (n.45875-23A>G)
c.45308-23A>G (n.45308-23A>G)
c.42650-23A>G (n.42650-23A>G)
c.42569-23A>G (n.42569-23A>G)
c.24332-23A>G (n.24332-23A>G)
c.14186-23A>G (n.14186-23A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.178610009T=CA1310547581TTN,TTN-AS1c.43733-23A= (n.43733-23A=)
c.24818-23A= (n.24818-23A=)
c.24617-23A= (n.24617-23A=)
c.24242-23A= (n.24242-23A=)
c.51437-23A= (n.51437-23A=)
c.46514-23A= (n.46514-23A=)
n.782+1743T=
c.50534-23A= (n.50534-23A=)
c.24428-23A= (n.24428-23A=)
c.24287-23A= (n.24287-23A=)
c.50330-23A= (n.50330-23A=)
c.45728-23A= (n.45728-23A=)
c.45725-23A= (n.45725-23A=)
c.42767-23A= (n.42767-23A=)
c.24383-23A= (n.24383-23A=)
c.45878-23A= (n.45878-23A=)
c.45875-23A= (n.45875-23A=)
c.45308-23A= (n.45308-23A=)
c.42650-23A= (n.42650-23A=)
c.42569-23A= (n.42569-23A=)
c.24332-23A= (n.24332-23A=)
c.14186-23A= (n.14186-23A=)
2g.178610011G>CCA2662131626TTN,TTN-AS1c.43733-25C>G (n.43733-25C>G)
c.24818-25C>G (n.24818-25C>G)
c.24617-25C>G (n.24617-25C>G)
c.24242-25C>G (n.24242-25C>G)
c.51437-25C>G (n.51437-25C>G)
c.46514-25C>G (n.46514-25C>G)
n.782+1745G>C
c.50534-25C>G (n.50534-25C>G)
c.24428-25C>G (n.24428-25C>G)
c.24287-25C>G (n.24287-25C>G)
c.50330-25C>G (n.50330-25C>G)
c.45728-25C>G (n.45728-25C>G)
c.45725-25C>G (n.45725-25C>G)
c.42767-25C>G (n.42767-25C>G)
c.24383-25C>G (n.24383-25C>G)
c.45878-25C>G (n.45878-25C>G)
c.45875-25C>G (n.45875-25C>G)
c.45308-25C>G (n.45308-25C>G)
c.42650-25C>G (n.42650-25C>G)
c.42569-25C>G (n.42569-25C>G)
c.24332-25C>G (n.24332-25C>G)
c.14186-25C>G (n.14186-25C>G)
 gnomAD v4
2g.178610012T>GCA2662131627TTN,TTN-AS1c.43733-26A>C (n.43733-26A>C)
c.24818-26A>C (n.24818-26A>C)
c.24617-26A>C (n.24617-26A>C)
c.24242-26A>C (n.24242-26A>C)
c.51437-26A>C (n.51437-26A>C)
c.46514-26A>C (n.46514-26A>C)
n.782+1746T>G
c.50534-26A>C (n.50534-26A>C)
c.24428-26A>C (n.24428-26A>C)
c.24287-26A>C (n.24287-26A>C)
c.50330-26A>C (n.50330-26A>C)
c.45728-26A>C (n.45728-26A>C)
c.45725-26A>C (n.45725-26A>C)
c.42767-26A>C (n.42767-26A>C)
c.24383-26A>C (n.24383-26A>C)
c.45878-26A>C (n.45878-26A>C)
c.45875-26A>C (n.45875-26A>C)
c.45308-26A>C (n.45308-26A>C)
c.42650-26A>C (n.42650-26A>C)
c.42569-26A>C (n.42569-26A>C)
c.24332-26A>C (n.24332-26A>C)
c.14186-26A>C (n.14186-26A>C)
 gnomAD v4
2g.178610013A>GCA2662131628TTN,TTN-AS1c.43733-27T>C (n.43733-27T>C)
c.24818-27T>C (n.24818-27T>C)
c.24617-27T>C (n.24617-27T>C)
c.24242-27T>C (n.24242-27T>C)
c.51437-27T>C (n.51437-27T>C)
c.46514-27T>C (n.46514-27T>C)
n.782+1747A>G
c.50534-27T>C (n.50534-27T>C)
c.24428-27T>C (n.24428-27T>C)
c.24287-27T>C (n.24287-27T>C)
c.50330-27T>C (n.50330-27T>C)
c.45728-27T>C (n.45728-27T>C)
c.45725-27T>C (n.45725-27T>C)
c.42767-27T>C (n.42767-27T>C)
c.24383-27T>C (n.24383-27T>C)
c.45878-27T>C (n.45878-27T>C)
c.45875-27T>C (n.45875-27T>C)
c.45308-27T>C (n.45308-27T>C)
c.42650-27T>C (n.42650-27T>C)
c.42569-27T>C (n.42569-27T>C)
c.24332-27T>C (n.24332-27T>C)
c.14186-27T>C (n.14186-27T>C)
 gnomAD v4
2g.178610014T>ACA1994192TTN,TTN-AS1c.43733-28A>T (n.43733-28A>T)
c.24818-28A>T (n.24818-28A>T)
c.24617-28A>T (n.24617-28A>T)
c.24242-28A>T (n.24242-28A>T)
c.51437-28A>T (n.51437-28A>T)
c.46514-28A>T (n.46514-28A>T)
n.782+1748T>A
c.50534-28A>T (n.50534-28A>T)
c.24428-28A>T (n.24428-28A>T)
c.24287-28A>T (n.24287-28A>T)
c.50330-28A>T (n.50330-28A>T)
c.45728-28A>T (n.45728-28A>T)
c.45725-28A>T (n.45725-28A>T)
c.42767-28A>T (n.42767-28A>T)
c.24383-28A>T (n.24383-28A>T)
c.45878-28A>T (n.45878-28A>T)
c.45875-28A>T (n.45875-28A>T)
c.45308-28A>T (n.45308-28A>T)
c.42650-28A>T (n.42650-28A>T)
c.42569-28A>T (n.42569-28A>T)
c.24332-28A>T (n.24332-28A>T)
c.14186-28A>T (n.14186-28A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178610014T=CA1310547582TTN,TTN-AS1c.43733-28A= (n.43733-28A=)
c.24818-28A= (n.24818-28A=)
c.24617-28A= (n.24617-28A=)
c.24242-28A= (n.24242-28A=)
c.51437-28A= (n.51437-28A=)
c.46514-28A= (n.46514-28A=)
n.782+1748T=
c.50534-28A= (n.50534-28A=)
c.24428-28A= (n.24428-28A=)
c.24287-28A= (n.24287-28A=)
c.50330-28A= (n.50330-28A=)
c.45728-28A= (n.45728-28A=)
c.45725-28A= (n.45725-28A=)
c.42767-28A= (n.42767-28A=)
c.24383-28A= (n.24383-28A=)
c.45878-28A= (n.45878-28A=)
c.45875-28A= (n.45875-28A=)
c.45308-28A= (n.45308-28A=)
c.42650-28A= (n.42650-28A=)
c.42569-28A= (n.42569-28A=)
c.24332-28A= (n.24332-28A=)
c.14186-28A= (n.14186-28A=)
2g.178610015C>ACA647543939TTN,TTN-AS1c.43733-29G>T (n.43733-29G>T)
c.24818-29G>T (n.24818-29G>T)
c.24617-29G>T (n.24617-29G>T)
c.24242-29G>T (n.24242-29G>T)
c.51437-29G>T (n.51437-29G>T)
c.46514-29G>T (n.46514-29G>T)
n.782+1749C>A
c.50534-29G>T (n.50534-29G>T)
c.24428-29G>T (n.24428-29G>T)
c.24287-29G>T (n.24287-29G>T)
c.50330-29G>T (n.50330-29G>T)
c.45728-29G>T (n.45728-29G>T)
c.45725-29G>T (n.45725-29G>T)
c.42767-29G>T (n.42767-29G>T)
c.24383-29G>T (n.24383-29G>T)
c.45878-29G>T (n.45878-29G>T)
c.45875-29G>T (n.45875-29G>T)
c.45308-29G>T (n.45308-29G>T)
c.42650-29G>T (n.42650-29G>T)
c.42569-29G>T (n.42569-29G>T)
c.24332-29G>T (n.24332-29G>T)
c.14186-29G>T (n.14186-29G>T)
 COSMIC
2g.178610015C>GCA2662131629TTN,TTN-AS1c.43733-29G>C (n.43733-29G>C)
c.24818-29G>C (n.24818-29G>C)
c.24617-29G>C (n.24617-29G>C)
c.24242-29G>C (n.24242-29G>C)
c.51437-29G>C (n.51437-29G>C)
c.46514-29G>C (n.46514-29G>C)
n.782+1749C>G
c.50534-29G>C (n.50534-29G>C)
c.24428-29G>C (n.24428-29G>C)
c.24287-29G>C (n.24287-29G>C)
c.50330-29G>C (n.50330-29G>C)
c.45728-29G>C (n.45728-29G>C)
c.45725-29G>C (n.45725-29G>C)
c.42767-29G>C (n.42767-29G>C)
c.24383-29G>C (n.24383-29G>C)
c.45878-29G>C (n.45878-29G>C)
c.45875-29G>C (n.45875-29G>C)
c.45308-29G>C (n.45308-29G>C)
c.42650-29G>C (n.42650-29G>C)
c.42569-29G>C (n.42569-29G>C)
c.24332-29G>C (n.24332-29G>C)
c.14186-29G>C (n.14186-29G>C)
 gnomAD v4
2g.178610016A=CA1310547583TTN,TTN-AS1c.43733-30T= (n.43733-30T=)
c.24818-30T= (n.24818-30T=)
c.24617-30T= (n.24617-30T=)
c.24242-30T= (n.24242-30T=)
c.51437-30T= (n.51437-30T=)
c.46514-30T= (n.46514-30T=)
n.782+1750A=
c.50534-30T= (n.50534-30T=)
c.24428-30T= (n.24428-30T=)
c.24287-30T= (n.24287-30T=)
c.50330-30T= (n.50330-30T=)
c.45728-30T= (n.45728-30T=)
c.45725-30T= (n.45725-30T=)
c.42767-30T= (n.42767-30T=)
c.24383-30T= (n.24383-30T=)
c.45878-30T= (n.45878-30T=)
c.45875-30T= (n.45875-30T=)
c.45308-30T= (n.45308-30T=)
c.42650-30T= (n.42650-30T=)
c.42569-30T= (n.42569-30T=)
c.24332-30T= (n.24332-30T=)
c.14186-30T= (n.14186-30T=)
2g.178610016A>GCA538435840TTN,TTN-AS1c.43733-30T>C (n.43733-30T>C)
c.24818-30T>C (n.24818-30T>C)
c.24617-30T>C (n.24617-30T>C)
c.24242-30T>C (n.24242-30T>C)
c.51437-30T>C (n.51437-30T>C)
c.46514-30T>C (n.46514-30T>C)
n.782+1750A>G
c.50534-30T>C (n.50534-30T>C)
c.24428-30T>C (n.24428-30T>C)
c.24287-30T>C (n.24287-30T>C)
c.50330-30T>C (n.50330-30T>C)
c.45728-30T>C (n.45728-30T>C)
c.45725-30T>C (n.45725-30T>C)
c.42767-30T>C (n.42767-30T>C)
c.24383-30T>C (n.24383-30T>C)
c.45878-30T>C (n.45878-30T>C)
c.45875-30T>C (n.45875-30T>C)
c.45308-30T>C (n.45308-30T>C)
c.42650-30T>C (n.42650-30T>C)
c.42569-30T>C (n.42569-30T>C)
c.24332-30T>C (n.24332-30T>C)
c.14186-30T>C (n.14186-30T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.178610016A>TCA2662131630TTN,TTN-AS1c.43733-30T>A (n.43733-30T>A)
c.24818-30T>A (n.24818-30T>A)
c.24617-30T>A (n.24617-30T>A)
c.24242-30T>A (n.24242-30T>A)
c.51437-30T>A (n.51437-30T>A)
c.46514-30T>A (n.46514-30T>A)
n.782+1750A>T
c.50534-30T>A (n.50534-30T>A)
c.24428-30T>A (n.24428-30T>A)
c.24287-30T>A (n.24287-30T>A)
c.50330-30T>A (n.50330-30T>A)
c.45728-30T>A (n.45728-30T>A)
c.45725-30T>A (n.45725-30T>A)
c.42767-30T>A (n.42767-30T>A)
c.24383-30T>A (n.24383-30T>A)
c.45878-30T>A (n.45878-30T>A)
c.45875-30T>A (n.45875-30T>A)
c.45308-30T>A (n.45308-30T>A)
c.42650-30T>A (n.42650-30T>A)
c.42569-30T>A (n.42569-30T>A)
c.24332-30T>A (n.24332-30T>A)
c.14186-30T>A (n.14186-30T>A)
 gnomAD v4
2g.178610020A=CA1310547584TTN,TTN-AS1c.43733-34T= (n.43733-34T=)
c.24818-34T= (n.24818-34T=)
c.24617-34T= (n.24617-34T=)
c.24242-34T= (n.24242-34T=)
c.51437-34T= (n.51437-34T=)
c.46514-34T= (n.46514-34T=)
n.782+1754A=
c.50534-34T= (n.50534-34T=)
c.24428-34T= (n.24428-34T=)
c.24287-34T= (n.24287-34T=)
c.50330-34T= (n.50330-34T=)
c.45728-34T= (n.45728-34T=)
c.45725-34T= (n.45725-34T=)
c.42767-34T= (n.42767-34T=)
c.24383-34T= (n.24383-34T=)
c.45878-34T= (n.45878-34T=)
c.45875-34T= (n.45875-34T=)
c.45308-34T= (n.45308-34T=)
c.42650-34T= (n.42650-34T=)
c.42569-34T= (n.42569-34T=)
c.24332-34T= (n.24332-34T=)
c.14186-34T= (n.14186-34T=)
2g.178610020A>GCA1039713192TTN,TTN-AS1c.43733-34T>C (n.43733-34T>C)
c.24818-34T>C (n.24818-34T>C)
c.24617-34T>C (n.24617-34T>C)
c.24242-34T>C (n.24242-34T>C)
c.51437-34T>C (n.51437-34T>C)
c.46514-34T>C (n.46514-34T>C)
n.782+1754A>G
c.50534-34T>C (n.50534-34T>C)
c.24428-34T>C (n.24428-34T>C)
c.24287-34T>C (n.24287-34T>C)
c.50330-34T>C (n.50330-34T>C)
c.45728-34T>C (n.45728-34T>C)
c.45725-34T>C (n.45725-34T>C)
c.42767-34T>C (n.42767-34T>C)
c.24383-34T>C (n.24383-34T>C)
c.45878-34T>C (n.45878-34T>C)
c.45875-34T>C (n.45875-34T>C)
c.45308-34T>C (n.45308-34T>C)
c.42650-34T>C (n.42650-34T>C)
c.42569-34T>C (n.42569-34T>C)
c.24332-34T>C (n.24332-34T>C)
c.14186-34T>C (n.14186-34T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.178610023C>ACA2662131631TTN,TTN-AS1c.43733-37G>T (n.43733-37G>T)
c.24818-37G>T (n.24818-37G>T)
c.24617-37G>T (n.24617-37G>T)
c.24242-37G>T (n.24242-37G>T)
c.51437-37G>T (n.51437-37G>T)
c.46514-37G>T (n.46514-37G>T)
n.782+1757C>A
c.50534-37G>T (n.50534-37G>T)
c.24428-37G>T (n.24428-37G>T)
c.24287-37G>T (n.24287-37G>T)
c.50330-37G>T (n.50330-37G>T)
c.45728-37G>T (n.45728-37G>T)
c.45725-37G>T (n.45725-37G>T)
c.42767-37G>T (n.42767-37G>T)
c.24383-37G>T (n.24383-37G>T)
c.45878-37G>T (n.45878-37G>T)
c.45875-37G>T (n.45875-37G>T)
c.45308-37G>T (n.45308-37G>T)
c.42650-37G>T (n.42650-37G>T)
c.42569-37G>T (n.42569-37G>T)
c.24332-37G>T (n.24332-37G>T)
c.14186-37G>T (n.14186-37G>T)
 gnomAD v4
2g.178610023C=CA1310547585TTN,TTN-AS1c.43733-37G= (n.43733-37G=)
c.24818-37G= (n.24818-37G=)
c.24617-37G= (n.24617-37G=)
c.24242-37G= (n.24242-37G=)
c.51437-37G= (n.51437-37G=)
c.46514-37G= (n.46514-37G=)
n.782+1757C=
c.50534-37G= (n.50534-37G=)
c.24428-37G= (n.24428-37G=)
c.24287-37G= (n.24287-37G=)
c.50330-37G= (n.50330-37G=)
c.45728-37G= (n.45728-37G=)
c.45725-37G= (n.45725-37G=)
c.42767-37G= (n.42767-37G=)
c.24383-37G= (n.24383-37G=)
c.45878-37G= (n.45878-37G=)
c.45875-37G= (n.45875-37G=)
c.45308-37G= (n.45308-37G=)
c.42650-37G= (n.42650-37G=)
c.42569-37G= (n.42569-37G=)
c.24332-37G= (n.24332-37G=)
c.14186-37G= (n.14186-37G=)
2g.178610023C>GCA538435841TTN,TTN-AS1c.43733-37G>C (n.43733-37G>C)
c.24818-37G>C (n.24818-37G>C)
c.24617-37G>C (n.24617-37G>C)
c.24242-37G>C (n.24242-37G>C)
c.51437-37G>C (n.51437-37G>C)
c.46514-37G>C (n.46514-37G>C)
n.782+1757C>G
c.50534-37G>C (n.50534-37G>C)
c.24428-37G>C (n.24428-37G>C)
c.24287-37G>C (n.24287-37G>C)
c.50330-37G>C (n.50330-37G>C)
c.45728-37G>C (n.45728-37G>C)
c.45725-37G>C (n.45725-37G>C)
c.42767-37G>C (n.42767-37G>C)
c.24383-37G>C (n.24383-37G>C)
c.45878-37G>C (n.45878-37G>C)
c.45875-37G>C (n.45875-37G>C)
c.45308-37G>C (n.45308-37G>C)
c.42650-37G>C (n.42650-37G>C)
c.42569-37G>C (n.42569-37G>C)
c.24332-37G>C (n.24332-37G>C)
c.14186-37G>C (n.14186-37G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178610023C>TCA1310547586TTN,TTN-AS1c.43733-37G>A (n.43733-37G>A)
c.24818-37G>A (n.24818-37G>A)
c.24617-37G>A (n.24617-37G>A)
c.24242-37G>A (n.24242-37G>A)
c.51437-37G>A (n.51437-37G>A)
c.46514-37G>A (n.46514-37G>A)
n.782+1757C>T
c.50534-37G>A (n.50534-37G>A)
c.24428-37G>A (n.24428-37G>A)
c.24287-37G>A (n.24287-37G>A)
c.50330-37G>A (n.50330-37G>A)
c.45728-37G>A (n.45728-37G>A)
c.45725-37G>A (n.45725-37G>A)
c.42767-37G>A (n.42767-37G>A)
c.24383-37G>A (n.24383-37G>A)
c.45878-37G>A (n.45878-37G>A)
c.45875-37G>A (n.45875-37G>A)
c.45308-37G>A (n.45308-37G>A)
c.42650-37G>A (n.42650-37G>A)
c.42569-37G>A (n.42569-37G>A)
c.24332-37G>A (n.24332-37G>A)
c.14186-37G>A (n.14186-37G>A)
 dbSNP
2g.178610025A>GCA2577170716TTN,TTN-AS1c.43733-39T>C (n.43733-39T>C)
c.24818-39T>C (n.24818-39T>C)
c.24617-39T>C (n.24617-39T>C)
c.24242-39T>C (n.24242-39T>C)
c.51437-39T>C (n.51437-39T>C)
c.46514-39T>C (n.46514-39T>C)
n.782+1759A>G
c.50534-39T>C (n.50534-39T>C)
c.24428-39T>C (n.24428-39T>C)
c.24287-39T>C (n.24287-39T>C)
c.50330-39T>C (n.50330-39T>C)
c.45728-39T>C (n.45728-39T>C)
c.45725-39T>C (n.45725-39T>C)
c.42767-39T>C (n.42767-39T>C)
c.24383-39T>C (n.24383-39T>C)
c.45878-39T>C (n.45878-39T>C)
c.45875-39T>C (n.45875-39T>C)
c.45308-39T>C (n.45308-39T>C)
c.42650-39T>C (n.42650-39T>C)
c.42569-39T>C (n.42569-39T>C)
c.24332-39T>C (n.24332-39T>C)
c.14186-39T>C (n.14186-39T>C)
 gnomAD v4
2g.178610026C>ACA2701300713TTN,TTN-AS1c.43733-40G>T (n.43733-40G>T)
c.24818-40G>T (n.24818-40G>T)
c.24617-40G>T (n.24617-40G>T)
c.24242-40G>T (n.24242-40G>T)
c.51437-40G>T (n.51437-40G>T)
c.46514-40G>T (n.46514-40G>T)
n.782+1760C>A
c.50534-40G>T (n.50534-40G>T)
c.24428-40G>T (n.24428-40G>T)
c.24287-40G>T (n.24287-40G>T)
c.50330-40G>T (n.50330-40G>T)
c.45728-40G>T (n.45728-40G>T)
c.45725-40G>T (n.45725-40G>T)
c.42767-40G>T (n.42767-40G>T)
c.24383-40G>T (n.24383-40G>T)
c.45878-40G>T (n.45878-40G>T)
c.45875-40G>T (n.45875-40G>T)
c.45308-40G>T (n.45308-40G>T)
c.42650-40G>T (n.42650-40G>T)
c.42569-40G>T (n.42569-40G>T)
c.24332-40G>T (n.24332-40G>T)
c.14186-40G>T (n.14186-40G>T)
 dbSNP
2g.178610028T>CCA538435842TTN,TTN-AS1c.43733-42A>G (n.43733-42A>G)
c.24818-42A>G (n.24818-42A>G)
c.24617-42A>G (n.24617-42A>G)
c.24242-42A>G (n.24242-42A>G)
c.51437-42A>G (n.51437-42A>G)
c.46514-42A>G (n.46514-42A>G)
n.782+1762T>C
c.50534-42A>G (n.50534-42A>G)
c.24428-42A>G (n.24428-42A>G)
c.24287-42A>G (n.24287-42A>G)
c.50330-42A>G (n.50330-42A>G)
c.45728-42A>G (n.45728-42A>G)
c.45725-42A>G (n.45725-42A>G)
c.42767-42A>G (n.42767-42A>G)
c.24383-42A>G (n.24383-42A>G)
c.45878-42A>G (n.45878-42A>G)
c.45875-42A>G (n.45875-42A>G)
c.45308-42A>G (n.45308-42A>G)
c.42650-42A>G (n.42650-42A>G)
c.42569-42A>G (n.42569-42A>G)
c.24332-42A>G (n.24332-42A>G)
c.14186-42A>G (n.14186-42A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.178610028T=CA1310547587TTN,TTN-AS1c.43733-42A= (n.43733-42A=)
c.24818-42A= (n.24818-42A=)
c.24617-42A= (n.24617-42A=)
c.24242-42A= (n.24242-42A=)
c.51437-42A= (n.51437-42A=)
c.46514-42A= (n.46514-42A=)
n.782+1762T=
c.50534-42A= (n.50534-42A=)
c.24428-42A= (n.24428-42A=)
c.24287-42A= (n.24287-42A=)
c.50330-42A= (n.50330-42A=)
c.45728-42A= (n.45728-42A=)
c.45725-42A= (n.45725-42A=)
c.42767-42A= (n.42767-42A=)
c.24383-42A= (n.24383-42A=)
c.45878-42A= (n.45878-42A=)
c.45875-42A= (n.45875-42A=)
c.45308-42A= (n.45308-42A=)
c.42650-42A= (n.42650-42A=)
c.42569-42A= (n.42569-42A=)
c.24332-42A= (n.24332-42A=)
c.14186-42A= (n.14186-42A=)
2g.178610029delCA2577170718TTN,TTN-AS1c.43733-42del (n.43733-42del)
c.24818-42del (n.24818-42del)
c.24617-42del (n.24617-42del)
c.24242-42del (n.24242-42del)
c.51437-42del (n.51437-42del)
c.46514-42del (n.46514-42del)
n.782+1763del
c.50534-42del (n.50534-42del)
c.24428-42del (n.24428-42del)
c.24287-42del (n.24287-42del)
c.50330-42del (n.50330-42del)
c.45728-42del (n.45728-42del)
c.45725-42del (n.45725-42del)
c.42767-42del (n.42767-42del)
c.24383-42del (n.24383-42del)
c.45878-42del (n.45878-42del)
c.45875-42del (n.45875-42del)
c.45308-42del (n.45308-42del)
c.42650-42del (n.42650-42del)
c.42569-42del (n.42569-42del)
c.24332-42del (n.24332-42del)
c.14186-42del (n.14186-42del)
2g.178610030C=CA1310547588TTN,TTN-AS1c.43733-44G= (n.43733-44G=)
c.24818-44G= (n.24818-44G=)
c.24617-44G= (n.24617-44G=)
c.24242-44G= (n.24242-44G=)
c.51437-44G= (n.51437-44G=)
c.46514-44G= (n.46514-44G=)
n.782+1764C=
c.50534-44G= (n.50534-44G=)
c.24428-44G= (n.24428-44G=)
c.24287-44G= (n.24287-44G=)
c.50330-44G= (n.50330-44G=)
c.45728-44G= (n.45728-44G=)
c.45725-44G= (n.45725-44G=)
c.42767-44G= (n.42767-44G=)
c.24383-44G= (n.24383-44G=)
c.45878-44G= (n.45878-44G=)
c.45875-44G= (n.45875-44G=)
c.45308-44G= (n.45308-44G=)
c.42650-44G= (n.42650-44G=)
c.42569-44G= (n.42569-44G=)
c.24332-44G= (n.24332-44G=)
c.14186-44G= (n.14186-44G=)
2g.178610030C>TCA1994193TTN,TTN-AS1c.43733-44G>A (n.43733-44G>A)
c.24818-44G>A (n.24818-44G>A)
c.24617-44G>A (n.24617-44G>A)
c.24242-44G>A (n.24242-44G>A)
c.51437-44G>A (n.51437-44G>A)
c.46514-44G>A (n.46514-44G>A)
n.782+1764C>T
c.50534-44G>A (n.50534-44G>A)
c.24428-44G>A (n.24428-44G>A)
c.24287-44G>A (n.24287-44G>A)
c.50330-44G>A (n.50330-44G>A)
c.45728-44G>A (n.45728-44G>A)
c.45725-44G>A (n.45725-44G>A)
c.42767-44G>A (n.42767-44G>A)
c.24383-44G>A (n.24383-44G>A)
c.45878-44G>A (n.45878-44G>A)
c.45875-44G>A (n.45875-44G>A)
c.45308-44G>A (n.45308-44G>A)
c.42650-44G>A (n.42650-44G>A)
c.42569-44G>A (n.42569-44G>A)
c.24332-44G>A (n.24332-44G>A)
c.14186-44G>A (n.14186-44G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178610032_178610037delinsTAAAACCA1310547589TTN,TTN-AS1c.43733-51_43733-46delinsGTTTTA (n.43733-51_43733-46delinsGTTTTA)
c.24818-51_24818-46delinsGTTTTA (n.24818-51_24818-46delinsGTTTTA)
c.24617-51_24617-46delinsGTTTTA (n.24617-51_24617-46delinsGTTTTA)
c.24242-51_24242-46delinsGTTTTA (n.24242-51_24242-46delinsGTTTTA)
c.51437-51_51437-46delinsGTTTTA (n.51437-51_51437-46delinsGTTTTA)
c.46514-51_46514-46delinsGTTTTA (n.46514-51_46514-46delinsGTTTTA)
n.782+1766_782+1771delinsTAAAAC
c.50534-51_50534-46delinsGTTTTA (n.50534-51_50534-46delinsGTTTTA)
c.24428-51_24428-46delinsGTTTTA (n.24428-51_24428-46delinsGTTTTA)
c.24287-51_24287-46delinsGTTTTA (n.24287-51_24287-46delinsGTTTTA)
c.50330-51_50330-46delinsGTTTTA (n.50330-51_50330-46delinsGTTTTA)
c.45728-51_45728-46delinsGTTTTA (n.45728-51_45728-46delinsGTTTTA)
c.45725-51_45725-46delinsGTTTTA (n.45725-51_45725-46delinsGTTTTA)
c.42767-51_42767-46delinsGTTTTA (n.42767-51_42767-46delinsGTTTTA)
c.24383-51_24383-46delinsGTTTTA (n.24383-51_24383-46delinsGTTTTA)
c.45878-51_45878-46delinsGTTTTA (n.45878-51_45878-46delinsGTTTTA)
c.45875-51_45875-46delinsGTTTTA (n.45875-51_45875-46delinsGTTTTA)
c.45308-51_45308-46delinsGTTTTA (n.45308-51_45308-46delinsGTTTTA)
c.42650-51_42650-46delinsGTTTTA (n.42650-51_42650-46delinsGTTTTA)
c.42569-51_42569-46delinsGTTTTA (n.42569-51_42569-46delinsGTTTTA)
c.24332-51_24332-46delinsGTTTTA (n.24332-51_24332-46delinsGTTTTA)
c.14186-51_14186-46delinsGTTTTA (n.14186-51_14186-46delinsGTTTTA)
2g.178610038_178610042delCA1994194TTN,TTN-AS1c.43733-51_43733-47del (n.43733-51_43733-47del)
c.24818-51_24818-47del (n.24818-51_24818-47del)
c.24617-51_24617-47del (n.24617-51_24617-47del)
c.24242-51_24242-47del (n.24242-51_24242-47del)
c.51437-51_51437-47del (n.51437-51_51437-47del)
c.46514-51_46514-47del (n.46514-51_46514-47del)
n.782+1772_782+1776del
c.50534-51_50534-47del (n.50534-51_50534-47del)
c.24428-51_24428-47del (n.24428-51_24428-47del)
c.24287-51_24287-47del (n.24287-51_24287-47del)
c.50330-51_50330-47del (n.50330-51_50330-47del)
c.45728-51_45728-47del (n.45728-51_45728-47del)
c.45725-51_45725-47del (n.45725-51_45725-47del)
c.42767-51_42767-47del (n.42767-51_42767-47del)
c.24383-51_24383-47del (n.24383-51_24383-47del)
c.45878-51_45878-47del (n.45878-51_45878-47del)
c.45875-51_45875-47del (n.45875-51_45875-47del)
c.45308-51_45308-47del (n.45308-51_45308-47del)
c.42650-51_42650-47del (n.42650-51_42650-47del)
c.42569-51_42569-47del (n.42569-51_42569-47del)
c.24332-51_24332-47del (n.24332-51_24332-47del)
c.14186-51_14186-47del (n.14186-51_14186-47del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178610037C>GCA2662131632TTN,TTN-AS1c.43733-51G>C (n.43733-51G>C)
c.24818-51G>C (n.24818-51G>C)
c.24617-51G>C (n.24617-51G>C)
c.24242-51G>C (n.24242-51G>C)
c.51437-51G>C (n.51437-51G>C)
c.46514-51G>C (n.46514-51G>C)
n.782+1771C>G
c.50534-51G>C (n.50534-51G>C)
c.24428-51G>C (n.24428-51G>C)
c.24287-51G>C (n.24287-51G>C)
c.50330-51G>C (n.50330-51G>C)
c.45728-51G>C (n.45728-51G>C)
c.45725-51G>C (n.45725-51G>C)
c.42767-51G>C (n.42767-51G>C)
c.24383-51G>C (n.24383-51G>C)
c.45878-51G>C (n.45878-51G>C)
c.45875-51G>C (n.45875-51G>C)
c.45308-51G>C (n.45308-51G>C)
c.42650-51G>C (n.42650-51G>C)
c.42569-51G>C (n.42569-51G>C)
c.24332-51G>C (n.24332-51G>C)
c.14186-51G>C (n.14186-51G>C)
 gnomAD v4
2g.178610038A=CA1310547590TTN,TTN-AS1c.43733-52T= (n.43733-52T=)
c.24818-52T= (n.24818-52T=)
c.24617-52T= (n.24617-52T=)
c.24242-52T= (n.24242-52T=)
c.51437-52T= (n.51437-52T=)
c.46514-52T= (n.46514-52T=)
n.782+1772A=
c.50534-52T= (n.50534-52T=)
c.24428-52T= (n.24428-52T=)
c.24287-52T= (n.24287-52T=)
c.50330-52T= (n.50330-52T=)
c.45728-52T= (n.45728-52T=)
c.45725-52T= (n.45725-52T=)
c.42767-52T= (n.42767-52T=)
c.24383-52T= (n.24383-52T=)
c.45878-52T= (n.45878-52T=)
c.45875-52T= (n.45875-52T=)
c.45308-52T= (n.45308-52T=)
c.42650-52T= (n.42650-52T=)
c.42569-52T= (n.42569-52T=)
c.24332-52T= (n.24332-52T=)
c.14186-52T= (n.14186-52T=)
2g.178610038A>GCA761290915TTN,TTN-AS1c.43733-52T>C (n.43733-52T>C)
c.24818-52T>C (n.24818-52T>C)
c.24617-52T>C (n.24617-52T>C)
c.24242-52T>C (n.24242-52T>C)
c.51437-52T>C (n.51437-52T>C)
c.46514-52T>C (n.46514-52T>C)
n.782+1772A>G
c.50534-52T>C (n.50534-52T>C)
c.24428-52T>C (n.24428-52T>C)
c.24287-52T>C (n.24287-52T>C)
c.50330-52T>C (n.50330-52T>C)
c.45728-52T>C (n.45728-52T>C)
c.45725-52T>C (n.45725-52T>C)
c.42767-52T>C (n.42767-52T>C)
c.24383-52T>C (n.24383-52T>C)
c.45878-52T>C (n.45878-52T>C)
c.45875-52T>C (n.45875-52T>C)
c.45308-52T>C (n.45308-52T>C)
c.42650-52T>C (n.42650-52T>C)
c.42569-52T>C (n.42569-52T>C)
c.24332-52T>C (n.24332-52T>C)
c.14186-52T>C (n.14186-52T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.178610041delCA2662131633TTN,TTN-AS1c.43733-52del (n.43733-52del)
c.24818-52del (n.24818-52del)
c.24617-52del (n.24617-52del)
c.24242-52del (n.24242-52del)
c.51437-52del (n.51437-52del)
c.46514-52del (n.46514-52del)
n.782+1775del
c.50534-52del (n.50534-52del)
c.24428-52del (n.24428-52del)
c.24287-52del (n.24287-52del)
c.50330-52del (n.50330-52del)
c.45728-52del (n.45728-52del)
c.45725-52del (n.45725-52del)
c.42767-52del (n.42767-52del)
c.24383-52del (n.24383-52del)
c.45878-52del (n.45878-52del)
c.45875-52del (n.45875-52del)
c.45308-52del (n.45308-52del)
c.42650-52del (n.42650-52del)
c.42569-52del (n.42569-52del)
c.24332-52del (n.24332-52del)
c.14186-52del (n.14186-52del)
 gnomAD v4
2g.178610041A=CA1310547591TTN,TTN-AS1c.43732+49T= (n.43732+49T=)
c.24817+49T= (n.24817+49T=)
c.24616+49T= (n.24616+49T=)
c.24241+49T= (n.24241+49T=)
c.51436+49T= (n.51436+49T=)
c.46513+49T= (n.46513+49T=)
n.782+1775A=
c.50533+49T= (n.50533+49T=)
c.24427+49T= (n.24427+49T=)
c.24286+49T= (n.24286+49T=)
c.50329+49T= (n.50329+49T=)
c.45727+49T= (n.45727+49T=)
c.45724+49T= (n.45724+49T=)
c.42766+49T= (n.42766+49T=)
c.24382+49T= (n.24382+49T=)
c.45877+49T= (n.45877+49T=)
c.45874+49T= (n.45874+49T=)
c.45307+49T= (n.45307+49T=)
c.42649+49T= (n.42649+49T=)
c.42568+49T= (n.42568+49T=)
c.24331+49T= (n.24331+49T=)
c.14185+49T= (n.14185+49T=)
2g.178610041A>GCA1994195TTN,TTN-AS1c.43732+49T>C (n.43732+49T>C)
c.24817+49T>C (n.24817+49T>C)
c.24616+49T>C (n.24616+49T>C)
c.24241+49T>C (n.24241+49T>C)
c.51436+49T>C (n.51436+49T>C)
c.46513+49T>C (n.46513+49T>C)
n.782+1775A>G
c.50533+49T>C (n.50533+49T>C)
c.24427+49T>C (n.24427+49T>C)
c.24286+49T>C (n.24286+49T>C)
c.50329+49T>C (n.50329+49T>C)
c.45727+49T>C (n.45727+49T>C)
c.45724+49T>C (n.45724+49T>C)
c.42766+49T>C (n.42766+49T>C)
c.24382+49T>C (n.24382+49T>C)
c.45877+49T>C (n.45877+49T>C)
c.45874+49T>C (n.45874+49T>C)
c.45307+49T>C (n.45307+49T>C)
c.42649+49T>C (n.42649+49T>C)
c.42568+49T>C (n.42568+49T>C)
c.24331+49T>C (n.24331+49T>C)
c.14185+49T>C (n.14185+49T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched