Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178532081G>ACA1985408TTN,TTN-AS1c.96830C>T (p.Pro32277Leu)
c.77915C>T (p.Pro25972Leu)
c.77714C>T (p.Pro25905Leu)
c.77339C>T (p.Pro25780Leu)
c.104534C>T (p.Pro34845Leu)
c.99611C>T (p.Pro33204Leu)
n.446+8445G>A
n.220-3651G>A
c.103631C>T (p.Pro34544Leu)
c.77525C>T (p.Pro25842Leu)
c.77384C>T (p.Pro25795Leu)
c.103427C>T (p.Pro34476Leu)
c.98825C>T (p.Pro32942Leu)
c.98822C>T (p.Pro32941Leu)
c.95864C>T (p.Pro31955Leu)
c.77480C>T (p.Pro25827Leu)
c.98975C>T (p.Pro32992Leu)
c.98972C>T (p.Pro32991Leu)
c.98405C>T (p.Pro32802Leu)
c.95747C>T (p.Pro31916Leu)
c.95666C>T (p.Pro31889Leu)
c.77429C>T (p.Pro25810Leu)
c.67283C>T (p.Pro22428Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532081G>CCA349411458TTN,TTN-AS1c.96830C>G (p.Pro32277Arg)
c.77915C>G (p.Pro25972Arg)
c.77714C>G (p.Pro25905Arg)
c.77339C>G (p.Pro25780Arg)
c.104534C>G (p.Pro34845Arg)
c.99611C>G (p.Pro33204Arg)
n.446+8445G>C
n.220-3651G>C
c.103631C>G (p.Pro34544Arg)
c.77525C>G (p.Pro25842Arg)
c.77384C>G (p.Pro25795Arg)
c.103427C>G (p.Pro34476Arg)
c.98825C>G (p.Pro32942Arg)
c.98822C>G (p.Pro32941Arg)
c.95864C>G (p.Pro31955Arg)
c.77480C>G (p.Pro25827Arg)
c.98975C>G (p.Pro32992Arg)
c.98972C>G (p.Pro32991Arg)
c.98405C>G (p.Pro32802Arg)
c.95747C>G (p.Pro31916Arg)
c.95666C>G (p.Pro31889Arg)
c.77429C>G (p.Pro25810Arg)
c.67283C>G (p.Pro22428Arg)
2g.178532081G=CA1310518068TTN,TTN-AS1c.96830C= (p.Pro32277=)
c.77915C= (p.Pro25972=)
c.77714C= (p.Pro25905=)
c.77339C= (p.Pro25780=)
c.104534C= (p.Pro34845=)
c.99611C= (p.Pro33204=)
n.446+8445G=
n.220-3651G=
c.103631C= (p.Pro34544=)
c.77525C= (p.Pro25842=)
c.77384C= (p.Pro25795=)
c.103427C= (p.Pro34476=)
c.98825C= (p.Pro32942=)
c.98822C= (p.Pro32941=)
c.95864C= (p.Pro31955=)
c.77480C= (p.Pro25827=)
c.98975C= (p.Pro32992=)
c.98972C= (p.Pro32991=)
c.98405C= (p.Pro32802=)
c.95747C= (p.Pro31916=)
c.95666C= (p.Pro31889=)
c.77429C= (p.Pro25810=)
c.67283C= (p.Pro22428=)
2g.178532081G>TCA349411459TTN,TTN-AS1c.96830C>A (p.Pro32277Gln)
c.77915C>A (p.Pro25972Gln)
c.77714C>A (p.Pro25905Gln)
c.77339C>A (p.Pro25780Gln)
c.104534C>A (p.Pro34845Gln)
c.99611C>A (p.Pro33204Gln)
n.446+8445G>T
n.220-3651G>T
c.103631C>A (p.Pro34544Gln)
c.77525C>A (p.Pro25842Gln)
c.77384C>A (p.Pro25795Gln)
c.103427C>A (p.Pro34476Gln)
c.98825C>A (p.Pro32942Gln)
c.98822C>A (p.Pro32941Gln)
c.95864C>A (p.Pro31955Gln)
c.77480C>A (p.Pro25827Gln)
c.98975C>A (p.Pro32992Gln)
c.98972C>A (p.Pro32991Gln)
c.98405C>A (p.Pro32802Gln)
c.95747C>A (p.Pro31916Gln)
c.95666C>A (p.Pro31889Gln)
c.77429C>A (p.Pro25810Gln)
c.67283C>A (p.Pro22428Gln)
2g.178532082G>ACA349411460TTN,TTN-AS1c.96829C>T (p.Pro32277Ser)
c.77914C>T (p.Pro25972Ser)
c.77713C>T (p.Pro25905Ser)
c.77338C>T (p.Pro25780Ser)
c.104533C>T (p.Pro34845Ser)
c.99610C>T (p.Pro33204Ser)
n.446+8446G>A
n.220-3650G>A
c.103630C>T (p.Pro34544Ser)
c.77524C>T (p.Pro25842Ser)
c.77383C>T (p.Pro25795Ser)
c.103426C>T (p.Pro34476Ser)
c.98824C>T (p.Pro32942Ser)
c.98821C>T (p.Pro32941Ser)
c.95863C>T (p.Pro31955Ser)
c.77479C>T (p.Pro25827Ser)
c.98974C>T (p.Pro32992Ser)
c.98971C>T (p.Pro32991Ser)
c.98404C>T (p.Pro32802Ser)
c.95746C>T (p.Pro31916Ser)
c.95665C>T (p.Pro31889Ser)
c.77428C>T (p.Pro25810Ser)
c.67282C>T (p.Pro22428Ser)
2g.178532082G>CCA349411462TTN,TTN-AS1c.96829C>G (p.Pro32277Ala)
c.77914C>G (p.Pro25972Ala)
c.77713C>G (p.Pro25905Ala)
c.77338C>G (p.Pro25780Ala)
c.104533C>G (p.Pro34845Ala)
c.99610C>G (p.Pro33204Ala)
n.446+8446G>C
n.220-3650G>C
c.103630C>G (p.Pro34544Ala)
c.77524C>G (p.Pro25842Ala)
c.77383C>G (p.Pro25795Ala)
c.103426C>G (p.Pro34476Ala)
c.98824C>G (p.Pro32942Ala)
c.98821C>G (p.Pro32941Ala)
c.95863C>G (p.Pro31955Ala)
c.77479C>G (p.Pro25827Ala)
c.98974C>G (p.Pro32992Ala)
c.98971C>G (p.Pro32991Ala)
c.98404C>G (p.Pro32802Ala)
c.95746C>G (p.Pro31916Ala)
c.95665C>G (p.Pro31889Ala)
c.77428C>G (p.Pro25810Ala)
c.67282C>G (p.Pro22428Ala)
2g.178532082G>TCA349411461TTN,TTN-AS1c.96829C>A (p.Pro32277Thr)
c.77914C>A (p.Pro25972Thr)
c.77713C>A (p.Pro25905Thr)
c.77338C>A (p.Pro25780Thr)
c.104533C>A (p.Pro34845Thr)
c.99610C>A (p.Pro33204Thr)
n.446+8446G>T
n.220-3650G>T
c.103630C>A (p.Pro34544Thr)
c.77524C>A (p.Pro25842Thr)
c.77383C>A (p.Pro25795Thr)
c.103426C>A (p.Pro34476Thr)
c.98824C>A (p.Pro32942Thr)
c.98821C>A (p.Pro32941Thr)
c.95863C>A (p.Pro31955Thr)
c.77479C>A (p.Pro25827Thr)
c.98974C>A (p.Pro32992Thr)
c.98971C>A (p.Pro32991Thr)
c.98404C>A (p.Pro32802Thr)
c.95746C>A (p.Pro31916Thr)
c.95665C>A (p.Pro31889Thr)
c.77428C>A (p.Pro25810Thr)
c.67282C>A (p.Pro22428Thr)
2g.178532083A>CCA430235841TTN,TTN-AS1c.96828T>G (p.Ser32276=)
c.77913T>G (p.Ser25971=)
c.77712T>G (p.Ser25904=)
c.77337T>G (p.Ser25779=)
c.104532T>G (p.Ser34844=)
c.99609T>G (p.Ser33203=)
n.446+8447A>C
n.220-3649A>C
c.103629T>G (p.Ser34543=)
c.77523T>G (p.Ser25841=)
c.77382T>G (p.Ser25794=)
c.103425T>G (p.Ser34475=)
c.98823T>G (p.Ser32941=)
c.98820T>G (p.Ser32940=)
c.95862T>G (p.Ser31954=)
c.77478T>G (p.Ser25826=)
c.98973T>G (p.Ser32991=)
c.98970T>G (p.Ser32990=)
c.98403T>G (p.Ser32801=)
c.95745T>G (p.Ser31915=)
c.95664T>G (p.Ser31888=)
c.77427T>G (p.Ser25809=)
c.67281T>G (p.Ser22427=)
2g.178532083A>GCA430235842TTN,TTN-AS1c.96828T>C (p.Ser32276=)
c.77913T>C (p.Ser25971=)
c.77712T>C (p.Ser25904=)
c.77337T>C (p.Ser25779=)
c.104532T>C (p.Ser34844=)
c.99609T>C (p.Ser33203=)
n.446+8447A>G
n.220-3649A>G
c.103629T>C (p.Ser34543=)
c.77523T>C (p.Ser25841=)
c.77382T>C (p.Ser25794=)
c.103425T>C (p.Ser34475=)
c.98823T>C (p.Ser32941=)
c.98820T>C (p.Ser32940=)
c.95862T>C (p.Ser31954=)
c.77478T>C (p.Ser25826=)
c.98973T>C (p.Ser32991=)
c.98970T>C (p.Ser32990=)
c.98403T>C (p.Ser32801=)
c.95745T>C (p.Ser31915=)
c.95664T>C (p.Ser31888=)
c.77427T>C (p.Ser25809=)
c.67281T>C (p.Ser22427=)
2g.178532083A>TCA430235843TTN,TTN-AS1c.96828T>A (p.Ser32276=)
c.77913T>A (p.Ser25971=)
c.77712T>A (p.Ser25904=)
c.77337T>A (p.Ser25779=)
c.104532T>A (p.Ser34844=)
c.99609T>A (p.Ser33203=)
n.446+8447A>T
n.220-3649A>T
c.103629T>A (p.Ser34543=)
c.77523T>A (p.Ser25841=)
c.77382T>A (p.Ser25794=)
c.103425T>A (p.Ser34475=)
c.98823T>A (p.Ser32941=)
c.98820T>A (p.Ser32940=)
c.95862T>A (p.Ser31954=)
c.77478T>A (p.Ser25826=)
c.98973T>A (p.Ser32991=)
c.98970T>A (p.Ser32990=)
c.98403T>A (p.Ser32801=)
c.95745T>A (p.Ser31915=)
c.95664T>A (p.Ser31888=)
c.77427T>A (p.Ser25809=)
c.67281T>A (p.Ser22427=)
2g.178532084G>ACA1985409TTN,TTN-AS1c.96827C>T (p.Ser32276Phe)
c.77912C>T (p.Ser25971Phe)
c.77711C>T (p.Ser25904Phe)
c.77336C>T (p.Ser25779Phe)
c.104531C>T (p.Ser34844Phe)
c.99608C>T (p.Ser33203Phe)
n.446+8448G>A
n.220-3648G>A
c.103628C>T (p.Ser34543Phe)
c.77522C>T (p.Ser25841Phe)
c.77381C>T (p.Ser25794Phe)
c.103424C>T (p.Ser34475Phe)
c.98822C>T (p.Ser32941Phe)
c.98819C>T (p.Ser32940Phe)
c.95861C>T (p.Ser31954Phe)
c.77477C>T (p.Ser25826Phe)
c.98972C>T (p.Ser32991Phe)
c.98969C>T (p.Ser32990Phe)
c.98402C>T (p.Ser32801Phe)
c.95744C>T (p.Ser31915Phe)
c.95663C>T (p.Ser31888Phe)
c.77426C>T (p.Ser25809Phe)
c.67280C>T (p.Ser22427Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178532084G>CCA349411464TTN,TTN-AS1c.96827C>G (p.Ser32276Cys)
c.77912C>G (p.Ser25971Cys)
c.77711C>G (p.Ser25904Cys)
c.77336C>G (p.Ser25779Cys)
c.104531C>G (p.Ser34844Cys)
c.99608C>G (p.Ser33203Cys)
n.446+8448G>C
n.220-3648G>C
c.103628C>G (p.Ser34543Cys)
c.77522C>G (p.Ser25841Cys)
c.77381C>G (p.Ser25794Cys)
c.103424C>G (p.Ser34475Cys)
c.98822C>G (p.Ser32941Cys)
c.98819C>G (p.Ser32940Cys)
c.95861C>G (p.Ser31954Cys)
c.77477C>G (p.Ser25826Cys)
c.98972C>G (p.Ser32991Cys)
c.98969C>G (p.Ser32990Cys)
c.98402C>G (p.Ser32801Cys)
c.95744C>G (p.Ser31915Cys)
c.95663C>G (p.Ser31888Cys)
c.77426C>G (p.Ser25809Cys)
c.67280C>G (p.Ser22427Cys)
 gnomAD v4
2g.178532084G=CA1310518069TTN,TTN-AS1c.96827C= (p.Ser32276=)
c.77912C= (p.Ser25971=)
c.77711C= (p.Ser25904=)
c.77336C= (p.Ser25779=)
c.104531C= (p.Ser34844=)
c.99608C= (p.Ser33203=)
n.446+8448G=
n.220-3648G=
c.103628C= (p.Ser34543=)
c.77522C= (p.Ser25841=)
c.77381C= (p.Ser25794=)
c.103424C= (p.Ser34475=)
c.98822C= (p.Ser32941=)
c.98819C= (p.Ser32940=)
c.95861C= (p.Ser31954=)
c.77477C= (p.Ser25826=)
c.98972C= (p.Ser32991=)
c.98969C= (p.Ser32990=)
c.98402C= (p.Ser32801=)
c.95744C= (p.Ser31915=)
c.95663C= (p.Ser31888=)
c.77426C= (p.Ser25809=)
c.67280C= (p.Ser22427=)
2g.178532084G>TCA349411463TTN,TTN-AS1c.96827C>A (p.Ser32276Tyr)
c.77912C>A (p.Ser25971Tyr)
c.77711C>A (p.Ser25904Tyr)
c.77336C>A (p.Ser25779Tyr)
c.104531C>A (p.Ser34844Tyr)
c.99608C>A (p.Ser33203Tyr)
n.446+8448G>T
n.220-3648G>T
c.103628C>A (p.Ser34543Tyr)
c.77522C>A (p.Ser25841Tyr)
c.77381C>A (p.Ser25794Tyr)
c.103424C>A (p.Ser34475Tyr)
c.98822C>A (p.Ser32941Tyr)
c.98819C>A (p.Ser32940Tyr)
c.95861C>A (p.Ser31954Tyr)
c.77477C>A (p.Ser25826Tyr)
c.98972C>A (p.Ser32991Tyr)
c.98969C>A (p.Ser32990Tyr)
c.98402C>A (p.Ser32801Tyr)
c.95744C>A (p.Ser31915Tyr)
c.95663C>A (p.Ser31888Tyr)
c.77426C>A (p.Ser25809Tyr)
c.67280C>A (p.Ser22427Tyr)
2g.178532085A>CCA349411465TTN,TTN-AS1c.96826T>G (p.Ser32276Ala)
c.77911T>G (p.Ser25971Ala)
c.77710T>G (p.Ser25904Ala)
c.77335T>G (p.Ser25779Ala)
c.104530T>G (p.Ser34844Ala)
c.99607T>G (p.Ser33203Ala)
n.446+8449A>C
n.220-3647A>C
c.103627T>G (p.Ser34543Ala)
c.77521T>G (p.Ser25841Ala)
c.77380T>G (p.Ser25794Ala)
c.103423T>G (p.Ser34475Ala)
c.98821T>G (p.Ser32941Ala)
c.98818T>G (p.Ser32940Ala)
c.95860T>G (p.Ser31954Ala)
c.77476T>G (p.Ser25826Ala)
c.98971T>G (p.Ser32991Ala)
c.98968T>G (p.Ser32990Ala)
c.98401T>G (p.Ser32801Ala)
c.95743T>G (p.Ser31915Ala)
c.95662T>G (p.Ser31888Ala)
c.77425T>G (p.Ser25809Ala)
c.67279T>G (p.Ser22427Ala)
2g.178532085A>GCA349411466TTN,TTN-AS1c.96826T>C (p.Ser32276Pro)
c.77911T>C (p.Ser25971Pro)
c.77710T>C (p.Ser25904Pro)
c.77335T>C (p.Ser25779Pro)
c.104530T>C (p.Ser34844Pro)
c.99607T>C (p.Ser33203Pro)
n.446+8449A>G
n.220-3647A>G
c.103627T>C (p.Ser34543Pro)
c.77521T>C (p.Ser25841Pro)
c.77380T>C (p.Ser25794Pro)
c.103423T>C (p.Ser34475Pro)
c.98821T>C (p.Ser32941Pro)
c.98818T>C (p.Ser32940Pro)
c.95860T>C (p.Ser31954Pro)
c.77476T>C (p.Ser25826Pro)
c.98971T>C (p.Ser32991Pro)
c.98968T>C (p.Ser32990Pro)
c.98401T>C (p.Ser32801Pro)
c.95743T>C (p.Ser31915Pro)
c.95662T>C (p.Ser31888Pro)
c.77425T>C (p.Ser25809Pro)
c.67279T>C (p.Ser22427Pro)
2g.178532085A>TCA349411467TTN,TTN-AS1c.96826T>A (p.Ser32276Thr)
c.77911T>A (p.Ser25971Thr)
c.77710T>A (p.Ser25904Thr)
c.77335T>A (p.Ser25779Thr)
c.104530T>A (p.Ser34844Thr)
c.99607T>A (p.Ser33203Thr)
n.446+8449A>T
n.220-3647A>T
c.103627T>A (p.Ser34543Thr)
c.77521T>A (p.Ser25841Thr)
c.77380T>A (p.Ser25794Thr)
c.103423T>A (p.Ser34475Thr)
c.98821T>A (p.Ser32941Thr)
c.98818T>A (p.Ser32940Thr)
c.95860T>A (p.Ser31954Thr)
c.77476T>A (p.Ser25826Thr)
c.98971T>A (p.Ser32991Thr)
c.98968T>A (p.Ser32990Thr)
c.98401T>A (p.Ser32801Thr)
c.95743T>A (p.Ser31915Thr)
c.95662T>A (p.Ser31888Thr)
c.77425T>A (p.Ser25809Thr)
c.67279T>A (p.Ser22427Thr)
2g.178532086C>ACA430235848TTN,TTN-AS1c.96825G>T (p.Leu32275=)
c.77910G>T (p.Leu25970=)
c.77709G>T (p.Leu25903=)
c.77334G>T (p.Leu25778=)
c.104529G>T (p.Leu34843=)
c.99606G>T (p.Leu33202=)
n.446+8450C>A
n.220-3646C>A
c.103626G>T (p.Leu34542=)
c.77520G>T (p.Leu25840=)
c.77379G>T (p.Leu25793=)
c.103422G>T (p.Leu34474=)
c.98820G>T (p.Leu32940=)
c.98817G>T (p.Leu32939=)
c.95859G>T (p.Leu31953=)
c.77475G>T (p.Leu25825=)
c.98970G>T (p.Leu32990=)
c.98967G>T (p.Leu32989=)
c.98400G>T (p.Leu32800=)
c.95742G>T (p.Leu31914=)
c.95661G>T (p.Leu31887=)
c.77424G>T (p.Leu25808=)
c.67278G>T (p.Leu22426=)
 ClinVar dbSNP
2g.178532086C=CA1310518070TTN,TTN-AS1c.96825G= (p.Leu32275=)
c.77910G= (p.Leu25970=)
c.77709G= (p.Leu25903=)
c.77334G= (p.Leu25778=)
c.104529G= (p.Leu34843=)
c.99606G= (p.Leu33202=)
n.446+8450C=
n.220-3646C=
c.103626G= (p.Leu34542=)
c.77520G= (p.Leu25840=)
c.77379G= (p.Leu25793=)
c.103422G= (p.Leu34474=)
c.98820G= (p.Leu32940=)
c.98817G= (p.Leu32939=)
c.95859G= (p.Leu31953=)
c.77475G= (p.Leu25825=)
c.98970G= (p.Leu32990=)
c.98967G= (p.Leu32989=)
c.98400G= (p.Leu32800=)
c.95742G= (p.Leu31914=)
c.95661G= (p.Leu31887=)
c.77424G= (p.Leu25808=)
c.67278G= (p.Leu22426=)
2g.178532086C>GCA430235846TTN,TTN-AS1c.96825G>C (p.Leu32275=)
c.77910G>C (p.Leu25970=)
c.77709G>C (p.Leu25903=)
c.77334G>C (p.Leu25778=)
c.104529G>C (p.Leu34843=)
c.99606G>C (p.Leu33202=)
n.446+8450C>G
n.220-3646C>G
c.103626G>C (p.Leu34542=)
c.77520G>C (p.Leu25840=)
c.77379G>C (p.Leu25793=)
c.103422G>C (p.Leu34474=)
c.98820G>C (p.Leu32940=)
c.98817G>C (p.Leu32939=)
c.95859G>C (p.Leu31953=)
c.77475G>C (p.Leu25825=)
c.98970G>C (p.Leu32990=)
c.98967G>C (p.Leu32989=)
c.98400G>C (p.Leu32800=)
c.95742G>C (p.Leu31914=)
c.95661G>C (p.Leu31887=)
c.77424G>C (p.Leu25808=)
c.67278G>C (p.Leu22426=)
2g.178532086C>TCA430235844TTN,TTN-AS1c.96825G>A (p.Leu32275=)
c.77910G>A (p.Leu25970=)
c.77709G>A (p.Leu25903=)
c.77334G>A (p.Leu25778=)
c.104529G>A (p.Leu34843=)
c.99606G>A (p.Leu33202=)
n.446+8450C>T
n.220-3646C>T
c.103626G>A (p.Leu34542=)
c.77520G>A (p.Leu25840=)
c.77379G>A (p.Leu25793=)
c.103422G>A (p.Leu34474=)
c.98820G>A (p.Leu32940=)
c.98817G>A (p.Leu32939=)
c.95859G>A (p.Leu31953=)
c.77475G>A (p.Leu25825=)
c.98970G>A (p.Leu32990=)
c.98967G>A (p.Leu32989=)
c.98400G>A (p.Leu32800=)
c.95742G>A (p.Leu31914=)
c.95661G>A (p.Leu31887=)
c.77424G>A (p.Leu25808=)
c.67278G>A (p.Leu22426=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178532087A>CCA349411468TTN,TTN-AS1c.96824T>G (p.Leu32275Arg)
c.77909T>G (p.Leu25970Arg)
c.77708T>G (p.Leu25903Arg)
c.77333T>G (p.Leu25778Arg)
c.104528T>G (p.Leu34843Arg)
c.99605T>G (p.Leu33202Arg)
n.446+8451A>C
n.220-3645A>C
c.103625T>G (p.Leu34542Arg)
c.77519T>G (p.Leu25840Arg)
c.77378T>G (p.Leu25793Arg)
c.103421T>G (p.Leu34474Arg)
c.98819T>G (p.Leu32940Arg)
c.98816T>G (p.Leu32939Arg)
c.95858T>G (p.Leu31953Arg)
c.77474T>G (p.Leu25825Arg)
c.98969T>G (p.Leu32990Arg)
c.98966T>G (p.Leu32989Arg)
c.98399T>G (p.Leu32800Arg)
c.95741T>G (p.Leu31914Arg)
c.95660T>G (p.Leu31887Arg)
c.77423T>G (p.Leu25808Arg)
c.67277T>G (p.Leu22426Arg)
2g.178532087A>GCA349411469TTN,TTN-AS1c.96824T>C (p.Leu32275Pro)
c.77909T>C (p.Leu25970Pro)
c.77708T>C (p.Leu25903Pro)
c.77333T>C (p.Leu25778Pro)
c.104528T>C (p.Leu34843Pro)
c.99605T>C (p.Leu33202Pro)
n.446+8451A>G
n.220-3645A>G
c.103625T>C (p.Leu34542Pro)
c.77519T>C (p.Leu25840Pro)
c.77378T>C (p.Leu25793Pro)
c.103421T>C (p.Leu34474Pro)
c.98819T>C (p.Leu32940Pro)
c.98816T>C (p.Leu32939Pro)
c.95858T>C (p.Leu31953Pro)
c.77474T>C (p.Leu25825Pro)
c.98969T>C (p.Leu32990Pro)
c.98966T>C (p.Leu32989Pro)
c.98399T>C (p.Leu32800Pro)
c.95741T>C (p.Leu31914Pro)
c.95660T>C (p.Leu31887Pro)
c.77423T>C (p.Leu25808Pro)
c.67277T>C (p.Leu22426Pro)
2g.178532087A>TCA349411470TTN,TTN-AS1c.96824T>A (p.Leu32275Gln)
c.77909T>A (p.Leu25970Gln)
c.77708T>A (p.Leu25903Gln)
c.77333T>A (p.Leu25778Gln)
c.104528T>A (p.Leu34843Gln)
c.99605T>A (p.Leu33202Gln)
n.446+8451A>T
n.220-3645A>T
c.103625T>A (p.Leu34542Gln)
c.77519T>A (p.Leu25840Gln)
c.77378T>A (p.Leu25793Gln)
c.103421T>A (p.Leu34474Gln)
c.98819T>A (p.Leu32940Gln)
c.98816T>A (p.Leu32939Gln)
c.95858T>A (p.Leu31953Gln)
c.77474T>A (p.Leu25825Gln)
c.98969T>A (p.Leu32990Gln)
c.98966T>A (p.Leu32989Gln)
c.98399T>A (p.Leu32800Gln)
c.95741T>A (p.Leu31914Gln)
c.95660T>A (p.Leu31887Gln)
c.77423T>A (p.Leu25808Gln)
c.67277T>A (p.Leu22426Gln)
2g.178532087_178532088delCA2662123639TTN,TTN-AS1c.96823_96824del (p.Leu32275ValfsTer6)
c.77908_77909del (p.Leu25970ValfsTer6)
c.77707_77708del (p.Leu25903ValfsTer6)
c.77332_77333del (p.Leu25778ValfsTer6)
c.104527_104528del (p.Leu34843ValfsTer6)
c.99604_99605del (p.Leu33202ValfsTer6)
n.446+8451_446+8452del
n.220-3645_220-3644del
c.103624_103625del (p.Leu34542ValfsTer6)
c.77518_77519del (p.Leu25840ValfsTer6)
c.77377_77378del (p.Leu25793ValfsTer6)
c.103420_103421del (p.Leu34474ValfsTer6)
c.98818_98819del (p.Leu32940ValfsTer6)
c.98815_98816del (p.Leu32939ValfsTer6)
c.95857_95858del (p.Leu31953ValfsTer6)
c.77473_77474del (p.Leu25825ValfsTer6)
c.98968_98969del (p.Leu32990ValfsTer6)
c.98965_98966del (p.Leu32989ValfsTer6)
c.98398_98399del (p.Leu32800ValfsTer6)
c.95740_95741del (p.Leu31914ValfsTer6)
c.95659_95660del (p.Leu31887ValfsTer6)
c.77422_77423del (p.Leu25808ValfsTer6)
c.67276_67277del (p.Leu22426ValfsTer6)
 gnomAD v4
2g.178532088G>ACA60956148TTN,TTN-AS1c.96823C>T (p.Leu32275=)
c.77908C>T (p.Leu25970=)
c.77707C>T (p.Leu25903=)
c.77332C>T (p.Leu25778=)
c.104527C>T (p.Leu34843=)
c.99604C>T (p.Leu33202=)
n.446+8452G>A
n.220-3644G>A
c.103624C>T (p.Leu34542=)
c.77518C>T (p.Leu25840=)
c.77377C>T (p.Leu25793=)
c.103420C>T (p.Leu34474=)
c.98818C>T (p.Leu32940=)
c.98815C>T (p.Leu32939=)
c.95857C>T (p.Leu31953=)
c.77473C>T (p.Leu25825=)
c.98968C>T (p.Leu32990=)
c.98965C>T (p.Leu32989=)
c.98398C>T (p.Leu32800=)
c.95740C>T (p.Leu31914=)
c.95659C>T (p.Leu31887=)
c.77422C>T (p.Leu25808=)
c.67276C>T (p.Leu22426=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178532088G>CCA349411471TTN,TTN-AS1c.96823C>G (p.Leu32275Val)
c.77908C>G (p.Leu25970Val)
c.77707C>G (p.Leu25903Val)
c.77332C>G (p.Leu25778Val)
c.104527C>G (p.Leu34843Val)
c.99604C>G (p.Leu33202Val)
n.446+8452G>C
n.220-3644G>C
c.103624C>G (p.Leu34542Val)
c.77518C>G (p.Leu25840Val)
c.77377C>G (p.Leu25793Val)
c.103420C>G (p.Leu34474Val)
c.98818C>G (p.Leu32940Val)
c.98815C>G (p.Leu32939Val)
c.95857C>G (p.Leu31953Val)
c.77473C>G (p.Leu25825Val)
c.98968C>G (p.Leu32990Val)
c.98965C>G (p.Leu32989Val)
c.98398C>G (p.Leu32800Val)
c.95740C>G (p.Leu31914Val)
c.95659C>G (p.Leu31887Val)
c.77422C>G (p.Leu25808Val)
c.67276C>G (p.Leu22426Val)
2g.178532088G=CA1310518071TTN,TTN-AS1c.96823C= (p.Leu32275=)
c.77908C= (p.Leu25970=)
c.77707C= (p.Leu25903=)
c.77332C= (p.Leu25778=)
c.104527C= (p.Leu34843=)
c.99604C= (p.Leu33202=)
n.446+8452G=
n.220-3644G=
c.103624C= (p.Leu34542=)
c.77518C= (p.Leu25840=)
c.77377C= (p.Leu25793=)
c.103420C= (p.Leu34474=)
c.98818C= (p.Leu32940=)
c.98815C= (p.Leu32939=)
c.95857C= (p.Leu31953=)
c.77473C= (p.Leu25825=)
c.98968C= (p.Leu32990=)
c.98965C= (p.Leu32989=)
c.98398C= (p.Leu32800=)
c.95740C= (p.Leu31914=)
c.95659C= (p.Leu31887=)
c.77422C= (p.Leu25808=)
c.67276C= (p.Leu22426=)
2g.178532088G>TCA349411472TTN,TTN-AS1c.96823C>A (p.Leu32275Met)
c.77908C>A (p.Leu25970Met)
c.77707C>A (p.Leu25903Met)
c.77332C>A (p.Leu25778Met)
c.104527C>A (p.Leu34843Met)
c.99604C>A (p.Leu33202Met)
n.446+8452G>T
n.220-3644G>T
c.103624C>A (p.Leu34542Met)
c.77518C>A (p.Leu25840Met)
c.77377C>A (p.Leu25793Met)
c.103420C>A (p.Leu34474Met)
c.98818C>A (p.Leu32940Met)
c.98815C>A (p.Leu32939Met)
c.95857C>A (p.Leu31953Met)
c.77473C>A (p.Leu25825Met)
c.98968C>A (p.Leu32990Met)
c.98965C>A (p.Leu32989Met)
c.98398C>A (p.Leu32800Met)
c.95740C>A (p.Leu31914Met)
c.95659C>A (p.Leu31887Met)
c.77422C>A (p.Leu25808Met)
c.67276C>A (p.Leu22426Met)
2g.178532089G>ACA430235850TTN,TTN-AS1c.96822C>T (p.Ser32274=)
c.77907C>T (p.Ser25969=)
c.77706C>T (p.Ser25902=)
c.77331C>T (p.Ser25777=)
c.104526C>T (p.Ser34842=)
c.99603C>T (p.Ser33201=)
n.446+8453G>A
n.220-3643G>A
c.103623C>T (p.Ser34541=)
c.77517C>T (p.Ser25839=)
c.77376C>T (p.Ser25792=)
c.103419C>T (p.Ser34473=)
c.98817C>T (p.Ser32939=)
c.98814C>T (p.Ser32938=)
c.95856C>T (p.Ser31952=)
c.77472C>T (p.Ser25824=)
c.98967C>T (p.Ser32989=)
c.98964C>T (p.Ser32988=)
c.98397C>T (p.Ser32799=)
c.95739C>T (p.Ser31913=)
c.95658C>T (p.Ser31886=)
c.77421C>T (p.Ser25807=)
c.67275C>T (p.Ser22425=)
2g.178532089G>CCA430235851TTN,TTN-AS1c.96822C>G (p.Ser32274=)
c.77907C>G (p.Ser25969=)
c.77706C>G (p.Ser25902=)
c.77331C>G (p.Ser25777=)
c.104526C>G (p.Ser34842=)
c.99603C>G (p.Ser33201=)
n.446+8453G>C
n.220-3643G>C
c.103623C>G (p.Ser34541=)
c.77517C>G (p.Ser25839=)
c.77376C>G (p.Ser25792=)
c.103419C>G (p.Ser34473=)
c.98817C>G (p.Ser32939=)
c.98814C>G (p.Ser32938=)
c.95856C>G (p.Ser31952=)
c.77472C>G (p.Ser25824=)
c.98967C>G (p.Ser32989=)
c.98964C>G (p.Ser32988=)
c.98397C>G (p.Ser32799=)
c.95739C>G (p.Ser31913=)
c.95658C>G (p.Ser31886=)
c.77421C>G (p.Ser25807=)
c.67275C>G (p.Ser22425=)
2g.178532089G>TCA430235852TTN,TTN-AS1c.96822C>A (p.Ser32274=)
c.77907C>A (p.Ser25969=)
c.77706C>A (p.Ser25902=)
c.77331C>A (p.Ser25777=)
c.104526C>A (p.Ser34842=)
c.99603C>A (p.Ser33201=)
n.446+8453G>T
n.220-3643G>T
c.103623C>A (p.Ser34541=)
c.77517C>A (p.Ser25839=)
c.77376C>A (p.Ser25792=)
c.103419C>A (p.Ser34473=)
c.98817C>A (p.Ser32939=)
c.98814C>A (p.Ser32938=)
c.95856C>A (p.Ser31952=)
c.77472C>A (p.Ser25824=)
c.98967C>A (p.Ser32989=)
c.98964C>A (p.Ser32988=)
c.98397C>A (p.Ser32799=)
c.95739C>A (p.Ser31913=)
c.95658C>A (p.Ser31886=)
c.77421C>A (p.Ser25807=)
c.67275C>A (p.Ser22425=)
2g.178532090G>ACA349411473TTN,TTN-AS1c.96821C>T (p.Ser32274Phe)
c.77906C>T (p.Ser25969Phe)
c.77705C>T (p.Ser25902Phe)
c.77330C>T (p.Ser25777Phe)
c.104525C>T (p.Ser34842Phe)
c.99602C>T (p.Ser33201Phe)
n.446+8454G>A
n.220-3642G>A
c.103622C>T (p.Ser34541Phe)
c.77516C>T (p.Ser25839Phe)
c.77375C>T (p.Ser25792Phe)
c.103418C>T (p.Ser34473Phe)
c.98816C>T (p.Ser32939Phe)
c.98813C>T (p.Ser32938Phe)
c.95855C>T (p.Ser31952Phe)
c.77471C>T (p.Ser25824Phe)
c.98966C>T (p.Ser32989Phe)
c.98963C>T (p.Ser32988Phe)
c.98396C>T (p.Ser32799Phe)
c.95738C>T (p.Ser31913Phe)
c.95657C>T (p.Ser31886Phe)
c.77420C>T (p.Ser25807Phe)
c.67274C>T (p.Ser22425Phe)
2g.178532090G>CCA349411474TTN,TTN-AS1c.96821C>G (p.Ser32274Cys)
c.77906C>G (p.Ser25969Cys)
c.77705C>G (p.Ser25902Cys)
c.77330C>G (p.Ser25777Cys)
c.104525C>G (p.Ser34842Cys)
c.99602C>G (p.Ser33201Cys)
n.446+8454G>C
n.220-3642G>C
c.103622C>G (p.Ser34541Cys)
c.77516C>G (p.Ser25839Cys)
c.77375C>G (p.Ser25792Cys)
c.103418C>G (p.Ser34473Cys)
c.98816C>G (p.Ser32939Cys)
c.98813C>G (p.Ser32938Cys)
c.95855C>G (p.Ser31952Cys)
c.77471C>G (p.Ser25824Cys)
c.98966C>G (p.Ser32989Cys)
c.98963C>G (p.Ser32988Cys)
c.98396C>G (p.Ser32799Cys)
c.95738C>G (p.Ser31913Cys)
c.95657C>G (p.Ser31886Cys)
c.77420C>G (p.Ser25807Cys)
c.67274C>G (p.Ser22425Cys)
2g.178532090G>TCA349411475TTN,TTN-AS1c.96821C>A (p.Ser32274Tyr)
c.77906C>A (p.Ser25969Tyr)
c.77705C>A (p.Ser25902Tyr)
c.77330C>A (p.Ser25777Tyr)
c.104525C>A (p.Ser34842Tyr)
c.99602C>A (p.Ser33201Tyr)
n.446+8454G>T
n.220-3642G>T
c.103622C>A (p.Ser34541Tyr)
c.77516C>A (p.Ser25839Tyr)
c.77375C>A (p.Ser25792Tyr)
c.103418C>A (p.Ser34473Tyr)
c.98816C>A (p.Ser32939Tyr)
c.98813C>A (p.Ser32938Tyr)
c.95855C>A (p.Ser31952Tyr)
c.77471C>A (p.Ser25824Tyr)
c.98966C>A (p.Ser32989Tyr)
c.98963C>A (p.Ser32988Tyr)
c.98396C>A (p.Ser32799Tyr)
c.95738C>A (p.Ser31913Tyr)
c.95657C>A (p.Ser31886Tyr)
c.77420C>A (p.Ser25807Tyr)
c.67274C>A (p.Ser22425Tyr)
2g.178532091A>CCA349411478TTN,TTN-AS1c.96820T>G (p.Ser32274Ala)
c.77905T>G (p.Ser25969Ala)
c.77704T>G (p.Ser25902Ala)
c.77329T>G (p.Ser25777Ala)
c.104524T>G (p.Ser34842Ala)
c.99601T>G (p.Ser33201Ala)
n.446+8455A>C
n.220-3641A>C
c.103621T>G (p.Ser34541Ala)
c.77515T>G (p.Ser25839Ala)
c.77374T>G (p.Ser25792Ala)
c.103417T>G (p.Ser34473Ala)
c.98815T>G (p.Ser32939Ala)
c.98812T>G (p.Ser32938Ala)
c.95854T>G (p.Ser31952Ala)
c.77470T>G (p.Ser25824Ala)
c.98965T>G (p.Ser32989Ala)
c.98962T>G (p.Ser32988Ala)
c.98395T>G (p.Ser32799Ala)
c.95737T>G (p.Ser31913Ala)
c.95656T>G (p.Ser31886Ala)
c.77419T>G (p.Ser25807Ala)
c.67273T>G (p.Ser22425Ala)
2g.178532091A>GCA349411476TTN,TTN-AS1c.96820T>C (p.Ser32274Pro)
c.77905T>C (p.Ser25969Pro)
c.77704T>C (p.Ser25902Pro)
c.77329T>C (p.Ser25777Pro)
c.104524T>C (p.Ser34842Pro)
c.99601T>C (p.Ser33201Pro)
n.446+8455A>G
n.220-3641A>G
c.103621T>C (p.Ser34541Pro)
c.77515T>C (p.Ser25839Pro)
c.77374T>C (p.Ser25792Pro)
c.103417T>C (p.Ser34473Pro)
c.98815T>C (p.Ser32939Pro)
c.98812T>C (p.Ser32938Pro)
c.95854T>C (p.Ser31952Pro)
c.77470T>C (p.Ser25824Pro)
c.98965T>C (p.Ser32989Pro)
c.98962T>C (p.Ser32988Pro)
c.98395T>C (p.Ser32799Pro)
c.95737T>C (p.Ser31913Pro)
c.95656T>C (p.Ser31886Pro)
c.77419T>C (p.Ser25807Pro)
c.67273T>C (p.Ser22425Pro)
2g.178532091A>TCA349411477TTN,TTN-AS1c.96820T>A (p.Ser32274Thr)
c.77905T>A (p.Ser25969Thr)
c.77704T>A (p.Ser25902Thr)
c.77329T>A (p.Ser25777Thr)
c.104524T>A (p.Ser34842Thr)
c.99601T>A (p.Ser33201Thr)
n.446+8455A>T
n.220-3641A>T
c.103621T>A (p.Ser34541Thr)
c.77515T>A (p.Ser25839Thr)
c.77374T>A (p.Ser25792Thr)
c.103417T>A (p.Ser34473Thr)
c.98815T>A (p.Ser32939Thr)
c.98812T>A (p.Ser32938Thr)
c.95854T>A (p.Ser31952Thr)
c.77470T>A (p.Ser25824Thr)
c.98965T>A (p.Ser32989Thr)
c.98962T>A (p.Ser32988Thr)
c.98395T>A (p.Ser32799Thr)
c.95737T>A (p.Ser31913Thr)
c.95656T>A (p.Ser31886Thr)
c.77419T>A (p.Ser25807Thr)
c.67273T>A (p.Ser22425Thr)
2g.178532092G>ACA430235855TTN,TTN-AS1c.96819C>T (p.Arg32273=)
c.77904C>T (p.Arg25968=)
c.77703C>T (p.Arg25901=)
c.77328C>T (p.Arg25776=)
c.104523C>T (p.Arg34841=)
c.99600C>T (p.Arg33200=)
n.446+8456G>A
n.220-3640G>A
c.103620C>T (p.Arg34540=)
c.77514C>T (p.Arg25838=)
c.77373C>T (p.Arg25791=)
c.103416C>T (p.Arg34472=)
c.98814C>T (p.Arg32938=)
c.98811C>T (p.Arg32937=)
c.95853C>T (p.Arg31951=)
c.77469C>T (p.Arg25823=)
c.98964C>T (p.Arg32988=)
c.98961C>T (p.Arg32987=)
c.98394C>T (p.Arg32798=)
c.95736C>T (p.Arg31912=)
c.95655C>T (p.Arg31885=)
c.77418C>T (p.Arg25806=)
c.67272C>T (p.Arg22424=)
 ClinVar gnomAD v4
2g.178532092G>CCA430235853TTN,TTN-AS1c.96819C>G (p.Arg32273=)
c.77904C>G (p.Arg25968=)
c.77703C>G (p.Arg25901=)
c.77328C>G (p.Arg25776=)
c.104523C>G (p.Arg34841=)
c.99600C>G (p.Arg33200=)
n.446+8456G>C
n.220-3640G>C
c.103620C>G (p.Arg34540=)
c.77514C>G (p.Arg25838=)
c.77373C>G (p.Arg25791=)
c.103416C>G (p.Arg34472=)
c.98814C>G (p.Arg32938=)
c.98811C>G (p.Arg32937=)
c.95853C>G (p.Arg31951=)
c.77469C>G (p.Arg25823=)
c.98964C>G (p.Arg32988=)
c.98961C>G (p.Arg32987=)
c.98394C>G (p.Arg32798=)
c.95736C>G (p.Arg31912=)
c.95655C>G (p.Arg31885=)
c.77418C>G (p.Arg25806=)
c.67272C>G (p.Arg22424=)
 gnomAD v4
2g.178532092G=CA1310518072TTN,TTN-AS1c.96819C= (p.Arg32273=)
c.77904C= (p.Arg25968=)
c.77703C= (p.Arg25901=)
c.77328C= (p.Arg25776=)
c.104523C= (p.Arg34841=)
c.99600C= (p.Arg33200=)
n.446+8456G=
n.220-3640G=
c.103620C= (p.Arg34540=)
c.77514C= (p.Arg25838=)
c.77373C= (p.Arg25791=)
c.103416C= (p.Arg34472=)
c.98814C= (p.Arg32938=)
c.98811C= (p.Arg32937=)
c.95853C= (p.Arg31951=)
c.77469C= (p.Arg25823=)
c.98964C= (p.Arg32988=)
c.98961C= (p.Arg32987=)
c.98394C= (p.Arg32798=)
c.95736C= (p.Arg31912=)
c.95655C= (p.Arg31885=)
c.77418C= (p.Arg25806=)
c.67272C= (p.Arg22424=)
2g.178532092G>TCA430235854TTN,TTN-AS1c.96819C>A (p.Arg32273=)
c.77904C>A (p.Arg25968=)
c.77703C>A (p.Arg25901=)
c.77328C>A (p.Arg25776=)
c.104523C>A (p.Arg34841=)
c.99600C>A (p.Arg33200=)
n.446+8456G>T
n.220-3640G>T
c.103620C>A (p.Arg34540=)
c.77514C>A (p.Arg25838=)
c.77373C>A (p.Arg25791=)
c.103416C>A (p.Arg34472=)
c.98814C>A (p.Arg32938=)
c.98811C>A (p.Arg32937=)
c.95853C>A (p.Arg31951=)
c.77469C>A (p.Arg25823=)
c.98964C>A (p.Arg32988=)
c.98961C>A (p.Arg32987=)
c.98394C>A (p.Arg32798=)
c.95736C>A (p.Arg31912=)
c.95655C>A (p.Arg31885=)
c.77418C>A (p.Arg25806=)
c.67272C>A (p.Arg22424=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178532093C>ACA349411479TTN,TTN-AS1c.96818G>T (p.Arg32273Leu)
c.77903G>T (p.Arg25968Leu)
c.77702G>T (p.Arg25901Leu)
c.77327G>T (p.Arg25776Leu)
c.104522G>T (p.Arg34841Leu)
c.99599G>T (p.Arg33200Leu)
n.446+8457C>A
n.220-3639C>A
c.103619G>T (p.Arg34540Leu)
c.77513G>T (p.Arg25838Leu)
c.77372G>T (p.Arg25791Leu)
c.103415G>T (p.Arg34472Leu)
c.98813G>T (p.Arg32938Leu)
c.98810G>T (p.Arg32937Leu)
c.95852G>T (p.Arg31951Leu)
c.77468G>T (p.Arg25823Leu)
c.98963G>T (p.Arg32988Leu)
c.98960G>T (p.Arg32987Leu)
c.98393G>T (p.Arg32798Leu)
c.95735G>T (p.Arg31912Leu)
c.95654G>T (p.Arg31885Leu)
c.77417G>T (p.Arg25806Leu)
c.67271G>T (p.Arg22424Leu)
2g.178532093C=CA1310518073TTN,TTN-AS1c.96818G= (p.Arg32273=)
c.77903G= (p.Arg25968=)
c.77702G= (p.Arg25901=)
c.77327G= (p.Arg25776=)
c.104522G= (p.Arg34841=)
c.99599G= (p.Arg33200=)
n.446+8457C=
n.220-3639C=
c.103619G= (p.Arg34540=)
c.77513G= (p.Arg25838=)
c.77372G= (p.Arg25791=)
c.103415G= (p.Arg34472=)
c.98813G= (p.Arg32938=)
c.98810G= (p.Arg32937=)
c.95852G= (p.Arg31951=)
c.77468G= (p.Arg25823=)
c.98963G= (p.Arg32988=)
c.98960G= (p.Arg32987=)
c.98393G= (p.Arg32798=)
c.95735G= (p.Arg31912=)
c.95654G= (p.Arg31885=)
c.77417G= (p.Arg25806=)
c.67271G= (p.Arg22424=)
2g.178532093C>GCA349411480TTN,TTN-AS1c.96818G>C (p.Arg32273Pro)
c.77903G>C (p.Arg25968Pro)
c.77702G>C (p.Arg25901Pro)
c.77327G>C (p.Arg25776Pro)
c.104522G>C (p.Arg34841Pro)
c.99599G>C (p.Arg33200Pro)
n.446+8457C>G
n.220-3639C>G
c.103619G>C (p.Arg34540Pro)
c.77513G>C (p.Arg25838Pro)
c.77372G>C (p.Arg25791Pro)
c.103415G>C (p.Arg34472Pro)
c.98813G>C (p.Arg32938Pro)
c.98810G>C (p.Arg32937Pro)
c.95852G>C (p.Arg31951Pro)
c.77468G>C (p.Arg25823Pro)
c.98963G>C (p.Arg32988Pro)
c.98960G>C (p.Arg32987Pro)
c.98393G>C (p.Arg32798Pro)
c.95735G>C (p.Arg31912Pro)
c.95654G>C (p.Arg31885Pro)
c.77417G>C (p.Arg25806Pro)
c.67271G>C (p.Arg22424Pro)
2g.178532093C>TCA357992TTN,TTN-AS1c.96818G>A (p.Arg32273His)
c.77903G>A (p.Arg25968His)
c.77702G>A (p.Arg25901His)
c.77327G>A (p.Arg25776His)
c.104522G>A (p.Arg34841His)
c.99599G>A (p.Arg33200His)
n.446+8457C>T
n.220-3639C>T
c.103619G>A (p.Arg34540His)
c.77513G>A (p.Arg25838His)
c.77372G>A (p.Arg25791His)
c.103415G>A (p.Arg34472His)
c.98813G>A (p.Arg32938His)
c.98810G>A (p.Arg32937His)
c.95852G>A (p.Arg31951His)
c.77468G>A (p.Arg25823His)
c.98963G>A (p.Arg32988His)
c.98960G>A (p.Arg32987His)
c.98393G>A (p.Arg32798His)
c.95735G>A (p.Arg31912His)
c.95654G>A (p.Arg31885His)
c.77417G>A (p.Arg25806His)
c.67271G>A (p.Arg22424His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.178532094G>ACA311187TTN,TTN-AS1c.96817C>T (p.Arg32273Cys)
c.77902C>T (p.Arg25968Cys)
c.77701C>T (p.Arg25901Cys)
c.77326C>T (p.Arg25776Cys)
c.104521C>T (p.Arg34841Cys)
c.99598C>T (p.Arg33200Cys)
n.446+8458G>A
n.220-3638G>A
c.103618C>T (p.Arg34540Cys)
c.77512C>T (p.Arg25838Cys)
c.77371C>T (p.Arg25791Cys)
c.103414C>T (p.Arg34472Cys)
c.98812C>T (p.Arg32938Cys)
c.98809C>T (p.Arg32937Cys)
c.95851C>T (p.Arg31951Cys)
c.77467C>T (p.Arg25823Cys)
c.98962C>T (p.Arg32988Cys)
c.98959C>T (p.Arg32987Cys)
c.98392C>T (p.Arg32798Cys)
c.95734C>T (p.Arg31912Cys)
c.95653C>T (p.Arg31885Cys)
c.77416C>T (p.Arg25806Cys)
c.67270C>T (p.Arg22424Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532094G>CCA349411481TTN,TTN-AS1c.96817C>G (p.Arg32273Gly)
c.77902C>G (p.Arg25968Gly)
c.77701C>G (p.Arg25901Gly)
c.77326C>G (p.Arg25776Gly)
c.104521C>G (p.Arg34841Gly)
c.99598C>G (p.Arg33200Gly)
n.446+8458G>C
n.220-3638G>C
c.103618C>G (p.Arg34540Gly)
c.77512C>G (p.Arg25838Gly)
c.77371C>G (p.Arg25791Gly)
c.103414C>G (p.Arg34472Gly)
c.98812C>G (p.Arg32938Gly)
c.98809C>G (p.Arg32937Gly)
c.95851C>G (p.Arg31951Gly)
c.77467C>G (p.Arg25823Gly)
c.98962C>G (p.Arg32988Gly)
c.98959C>G (p.Arg32987Gly)
c.98392C>G (p.Arg32798Gly)
c.95734C>G (p.Arg31912Gly)
c.95653C>G (p.Arg31885Gly)
c.77416C>G (p.Arg25806Gly)
c.67270C>G (p.Arg22424Gly)
2g.178532094G=CA1310518074TTN,TTN-AS1c.96817C= (p.Arg32273=)
c.77902C= (p.Arg25968=)
c.77701C= (p.Arg25901=)
c.77326C= (p.Arg25776=)
c.104521C= (p.Arg34841=)
c.99598C= (p.Arg33200=)
n.446+8458G=
n.220-3638G=
c.103618C= (p.Arg34540=)
c.77512C= (p.Arg25838=)
c.77371C= (p.Arg25791=)
c.103414C= (p.Arg34472=)
c.98812C= (p.Arg32938=)
c.98809C= (p.Arg32937=)
c.95851C= (p.Arg31951=)
c.77467C= (p.Arg25823=)
c.98962C= (p.Arg32988=)
c.98959C= (p.Arg32987=)
c.98392C= (p.Arg32798=)
c.95734C= (p.Arg31912=)
c.95653C= (p.Arg31885=)
c.77416C= (p.Arg25806=)
c.67270C= (p.Arg22424=)
2g.178532094G>TCA349411482TTN,TTN-AS1c.96817C>A (p.Arg32273Ser)
c.77902C>A (p.Arg25968Ser)
c.77701C>A (p.Arg25901Ser)
c.77326C>A (p.Arg25776Ser)
c.104521C>A (p.Arg34841Ser)
c.99598C>A (p.Arg33200Ser)
n.446+8458G>T
n.220-3638G>T
c.103618C>A (p.Arg34540Ser)
c.77512C>A (p.Arg25838Ser)
c.77371C>A (p.Arg25791Ser)
c.103414C>A (p.Arg34472Ser)
c.98812C>A (p.Arg32938Ser)
c.98809C>A (p.Arg32937Ser)
c.95851C>A (p.Arg31951Ser)
c.77467C>A (p.Arg25823Ser)
c.98962C>A (p.Arg32988Ser)
c.98959C>A (p.Arg32987Ser)
c.98392C>A (p.Arg32798Ser)
c.95734C>A (p.Arg31912Ser)
c.95653C>A (p.Arg31885Ser)
c.77416C>A (p.Arg25806Ser)
c.67270C>A (p.Arg22424Ser)
2g.178532095C>ACA430235856TTN,TTN-AS1c.96816G>T (p.Arg32272=)
c.77901G>T (p.Arg25967=)
c.77700G>T (p.Arg25900=)
c.77325G>T (p.Arg25775=)
c.104520G>T (p.Arg34840=)
c.99597G>T (p.Arg33199=)
n.446+8459C>A
n.220-3637C>A
c.103617G>T (p.Arg34539=)
c.77511G>T (p.Arg25837=)
c.77370G>T (p.Arg25790=)
c.103413G>T (p.Arg34471=)
c.98811G>T (p.Arg32937=)
c.98808G>T (p.Arg32936=)
c.95850G>T (p.Arg31950=)
c.77466G>T (p.Arg25822=)
c.98961G>T (p.Arg32987=)
c.98958G>T (p.Arg32986=)
c.98391G>T (p.Arg32797=)
c.95733G>T (p.Arg31911=)
c.95652G>T (p.Arg31884=)
c.77415G>T (p.Arg25805=)
c.67269G>T (p.Arg22423=)
2g.178532095C=CA1310518075TTN,TTN-AS1c.96816G= (p.Arg32272=)
c.77901G= (p.Arg25967=)
c.77700G= (p.Arg25900=)
c.77325G= (p.Arg25775=)
c.104520G= (p.Arg34840=)
c.99597G= (p.Arg33199=)
n.446+8459C=
n.220-3637C=
c.103617G= (p.Arg34539=)
c.77511G= (p.Arg25837=)
c.77370G= (p.Arg25790=)
c.103413G= (p.Arg34471=)
c.98811G= (p.Arg32937=)
c.98808G= (p.Arg32936=)
c.95850G= (p.Arg31950=)
c.77466G= (p.Arg25822=)
c.98961G= (p.Arg32987=)
c.98958G= (p.Arg32986=)
c.98391G= (p.Arg32797=)
c.95733G= (p.Arg31911=)
c.95652G= (p.Arg31884=)
c.77415G= (p.Arg25805=)
c.67269G= (p.Arg22423=)
2g.178532095C>GCA1985410TTN,TTN-AS1c.96816G>C (p.Arg32272=)
c.77901G>C (p.Arg25967=)
c.77700G>C (p.Arg25900=)
c.77325G>C (p.Arg25775=)
c.104520G>C (p.Arg34840=)
c.99597G>C (p.Arg33199=)
n.446+8459C>G
n.220-3637C>G
c.103617G>C (p.Arg34539=)
c.77511G>C (p.Arg25837=)
c.77370G>C (p.Arg25790=)
c.103413G>C (p.Arg34471=)
c.98811G>C (p.Arg32937=)
c.98808G>C (p.Arg32936=)
c.95850G>C (p.Arg31950=)
c.77466G>C (p.Arg25822=)
c.98961G>C (p.Arg32987=)
c.98958G>C (p.Arg32986=)
c.98391G>C (p.Arg32797=)
c.95733G>C (p.Arg31911=)
c.95652G>C (p.Arg31884=)
c.77415G>C (p.Arg25805=)
c.67269G>C (p.Arg22423=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532095C>TCA1985411TTN,TTN-AS1c.96816G>A (p.Arg32272=)
c.77901G>A (p.Arg25967=)
c.77700G>A (p.Arg25900=)
c.77325G>A (p.Arg25775=)
c.104520G>A (p.Arg34840=)
c.99597G>A (p.Arg33199=)
n.446+8459C>T
n.220-3637C>T
c.103617G>A (p.Arg34539=)
c.77511G>A (p.Arg25837=)
c.77370G>A (p.Arg25790=)
c.103413G>A (p.Arg34471=)
c.98811G>A (p.Arg32937=)
c.98808G>A (p.Arg32936=)
c.95850G>A (p.Arg31950=)
c.77466G>A (p.Arg25822=)
c.98961G>A (p.Arg32987=)
c.98958G>A (p.Arg32986=)
c.98391G>A (p.Arg32797=)
c.95733G>A (p.Arg31911=)
c.95652G>A (p.Arg31884=)
c.77415G>A (p.Arg25805=)
c.67269G>A (p.Arg22423=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178532096C>ACA349411483TTN,TTN-AS1c.96815G>T (p.Arg32272Leu)
c.77900G>T (p.Arg25967Leu)
c.77699G>T (p.Arg25900Leu)
c.77324G>T (p.Arg25775Leu)
c.104519G>T (p.Arg34840Leu)
c.99596G>T (p.Arg33199Leu)
n.446+8460C>A
n.220-3636C>A
c.103616G>T (p.Arg34539Leu)
c.77510G>T (p.Arg25837Leu)
c.77369G>T (p.Arg25790Leu)
c.103412G>T (p.Arg34471Leu)
c.98810G>T (p.Arg32937Leu)
c.98807G>T (p.Arg32936Leu)
c.95849G>T (p.Arg31950Leu)
c.77465G>T (p.Arg25822Leu)
c.98960G>T (p.Arg32987Leu)
c.98957G>T (p.Arg32986Leu)
c.98390G>T (p.Arg32797Leu)
c.95732G>T (p.Arg31911Leu)
c.95651G>T (p.Arg31884Leu)
c.77414G>T (p.Arg25805Leu)
c.67268G>T (p.Arg22423Leu)
2g.178532096C=CA1310518076TTN,TTN-AS1c.96815G= (p.Arg32272=)
c.77900G= (p.Arg25967=)
c.77699G= (p.Arg25900=)
c.77324G= (p.Arg25775=)
c.104519G= (p.Arg34840=)
c.99596G= (p.Arg33199=)
n.446+8460C=
n.220-3636C=
c.103616G= (p.Arg34539=)
c.77510G= (p.Arg25837=)
c.77369G= (p.Arg25790=)
c.103412G= (p.Arg34471=)
c.98810G= (p.Arg32937=)
c.98807G= (p.Arg32936=)
c.95849G= (p.Arg31950=)
c.77465G= (p.Arg25822=)
c.98960G= (p.Arg32987=)
c.98957G= (p.Arg32986=)
c.98390G= (p.Arg32797=)
c.95732G= (p.Arg31911=)
c.95651G= (p.Arg31884=)
c.77414G= (p.Arg25805=)
c.67268G= (p.Arg22423=)
2g.178532096C>GCA349411484TTN,TTN-AS1c.96815G>C (p.Arg32272Pro)
c.77900G>C (p.Arg25967Pro)
c.77699G>C (p.Arg25900Pro)
c.77324G>C (p.Arg25775Pro)
c.104519G>C (p.Arg34840Pro)
c.99596G>C (p.Arg33199Pro)
n.446+8460C>G
n.220-3636C>G
c.103616G>C (p.Arg34539Pro)
c.77510G>C (p.Arg25837Pro)
c.77369G>C (p.Arg25790Pro)
c.103412G>C (p.Arg34471Pro)
c.98810G>C (p.Arg32937Pro)
c.98807G>C (p.Arg32936Pro)
c.95849G>C (p.Arg31950Pro)
c.77465G>C (p.Arg25822Pro)
c.98960G>C (p.Arg32987Pro)
c.98957G>C (p.Arg32986Pro)
c.98390G>C (p.Arg32797Pro)
c.95732G>C (p.Arg31911Pro)
c.95651G>C (p.Arg31884Pro)
c.77414G>C (p.Arg25805Pro)
c.67268G>C (p.Arg22423Pro)
2g.178532096C>TCA311184TTN,TTN-AS1c.96815G>A (p.Arg32272Gln)
c.77900G>A (p.Arg25967Gln)
c.77699G>A (p.Arg25900Gln)
c.77324G>A (p.Arg25775Gln)
c.104519G>A (p.Arg34840Gln)
c.99596G>A (p.Arg33199Gln)
n.446+8460C>T
n.220-3636C>T
c.103616G>A (p.Arg34539Gln)
c.77510G>A (p.Arg25837Gln)
c.77369G>A (p.Arg25790Gln)
c.103412G>A (p.Arg34471Gln)
c.98810G>A (p.Arg32937Gln)
c.98807G>A (p.Arg32936Gln)
c.95849G>A (p.Arg31950Gln)
c.77465G>A (p.Arg25822Gln)
c.98960G>A (p.Arg32987Gln)
c.98957G>A (p.Arg32986Gln)
c.98390G>A (p.Arg32797Gln)
c.95732G>A (p.Arg31911Gln)
c.95651G>A (p.Arg31884Gln)
c.77414G>A (p.Arg25805Gln)
c.67268G>A (p.Arg22423Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532097G>ACA1985412TTN,TTN-AS1c.96814C>T (p.Arg32272Trp)
c.77899C>T (p.Arg25967Trp)
c.77698C>T (p.Arg25900Trp)
c.77323C>T (p.Arg25775Trp)
c.104518C>T (p.Arg34840Trp)
c.99595C>T (p.Arg33199Trp)
n.446+8461G>A
n.220-3635G>A
c.103615C>T (p.Arg34539Trp)
c.77509C>T (p.Arg25837Trp)
c.77368C>T (p.Arg25790Trp)
c.103411C>T (p.Arg34471Trp)
c.98809C>T (p.Arg32937Trp)
c.98806C>T (p.Arg32936Trp)
c.95848C>T (p.Arg31950Trp)
c.77464C>T (p.Arg25822Trp)
c.98959C>T (p.Arg32987Trp)
c.98956C>T (p.Arg32986Trp)
c.98389C>T (p.Arg32797Trp)
c.95731C>T (p.Arg31911Trp)
c.95650C>T (p.Arg31884Trp)
c.77413C>T (p.Arg25805Trp)
c.67267C>T (p.Arg22423Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532097G>CCA349411485TTN,TTN-AS1c.96814C>G (p.Arg32272Gly)
c.77899C>G (p.Arg25967Gly)
c.77698C>G (p.Arg25900Gly)
c.77323C>G (p.Arg25775Gly)
c.104518C>G (p.Arg34840Gly)
c.99595C>G (p.Arg33199Gly)
n.446+8461G>C
n.220-3635G>C
c.103615C>G (p.Arg34539Gly)
c.77509C>G (p.Arg25837Gly)
c.77368C>G (p.Arg25790Gly)
c.103411C>G (p.Arg34471Gly)
c.98809C>G (p.Arg32937Gly)
c.98806C>G (p.Arg32936Gly)
c.95848C>G (p.Arg31950Gly)
c.77464C>G (p.Arg25822Gly)
c.98959C>G (p.Arg32987Gly)
c.98956C>G (p.Arg32986Gly)
c.98389C>G (p.Arg32797Gly)
c.95731C>G (p.Arg31911Gly)
c.95650C>G (p.Arg31884Gly)
c.77413C>G (p.Arg25805Gly)
c.67267C>G (p.Arg22423Gly)
2g.178532097G=CA1310518077TTN,TTN-AS1c.96814C= (p.Arg32272=)
c.77899C= (p.Arg25967=)
c.77698C= (p.Arg25900=)
c.77323C= (p.Arg25775=)
c.104518C= (p.Arg34840=)
c.99595C= (p.Arg33199=)
n.446+8461G=
n.220-3635G=
c.103615C= (p.Arg34539=)
c.77509C= (p.Arg25837=)
c.77368C= (p.Arg25790=)
c.103411C= (p.Arg34471=)
c.98809C= (p.Arg32937=)
c.98806C= (p.Arg32936=)
c.95848C= (p.Arg31950=)
c.77464C= (p.Arg25822=)
c.98959C= (p.Arg32987=)
c.98956C= (p.Arg32986=)
c.98389C= (p.Arg32797=)
c.95731C= (p.Arg31911=)
c.95650C= (p.Arg31884=)
c.77413C= (p.Arg25805=)
c.67267C= (p.Arg22423=)
2g.178532097G>TCA430235857TTN,TTN-AS1c.96814C>A (p.Arg32272=)
c.77899C>A (p.Arg25967=)
c.77698C>A (p.Arg25900=)
c.77323C>A (p.Arg25775=)
c.104518C>A (p.Arg34840=)
c.99595C>A (p.Arg33199=)
n.446+8461G>T
n.220-3635G>T
c.103615C>A (p.Arg34539=)
c.77509C>A (p.Arg25837=)
c.77368C>A (p.Arg25790=)
c.103411C>A (p.Arg34471=)
c.98809C>A (p.Arg32937=)
c.98806C>A (p.Arg32936=)
c.95848C>A (p.Arg31950=)
c.77464C>A (p.Arg25822=)
c.98959C>A (p.Arg32987=)
c.98956C>A (p.Arg32986=)
c.98389C>A (p.Arg32797=)
c.95731C>A (p.Arg31911=)
c.95650C>A (p.Arg31884=)
c.77413C>A (p.Arg25805=)
c.67267C>A (p.Arg22423=)
2g.178532098T>ACA430235859TTN,TTN-AS1c.96813A>T (p.Arg32271=)
c.77898A>T (p.Arg25966=)
c.77697A>T (p.Arg25899=)
c.77322A>T (p.Arg25774=)
c.104517A>T (p.Arg34839=)
c.99594A>T (p.Arg33198=)
n.446+8462T>A
n.220-3634T>A
c.103614A>T (p.Arg34538=)
c.77508A>T (p.Arg25836=)
c.77367A>T (p.Arg25789=)
c.103410A>T (p.Arg34470=)
c.98808A>T (p.Arg32936=)
c.98805A>T (p.Arg32935=)
c.95847A>T (p.Arg31949=)
c.77463A>T (p.Arg25821=)
c.98958A>T (p.Arg32986=)
c.98955A>T (p.Arg32985=)
c.98388A>T (p.Arg32796=)
c.95730A>T (p.Arg31910=)
c.95649A>T (p.Arg31883=)
c.77412A>T (p.Arg25804=)
c.67266A>T (p.Arg22422=)
2g.178532098T>CCA430235858TTN,TTN-AS1c.96813A>G (p.Arg32271=)
c.77898A>G (p.Arg25966=)
c.77697A>G (p.Arg25899=)
c.77322A>G (p.Arg25774=)
c.104517A>G (p.Arg34839=)
c.99594A>G (p.Arg33198=)
n.446+8462T>C
n.220-3634T>C
c.103614A>G (p.Arg34538=)
c.77508A>G (p.Arg25836=)
c.77367A>G (p.Arg25789=)
c.103410A>G (p.Arg34470=)
c.98808A>G (p.Arg32936=)
c.98805A>G (p.Arg32935=)
c.95847A>G (p.Arg31949=)
c.77463A>G (p.Arg25821=)
c.98958A>G (p.Arg32986=)
c.98955A>G (p.Arg32985=)
c.98388A>G (p.Arg32796=)
c.95730A>G (p.Arg31910=)
c.95649A>G (p.Arg31883=)
c.77412A>G (p.Arg25804=)
c.67266A>G (p.Arg22422=)
2g.178532098T>GCA430235860TTN,TTN-AS1c.96813A>C (p.Arg32271=)
c.77898A>C (p.Arg25966=)
c.77697A>C (p.Arg25899=)
c.77322A>C (p.Arg25774=)
c.104517A>C (p.Arg34839=)
c.99594A>C (p.Arg33198=)
n.446+8462T>G
n.220-3634T>G
c.103614A>C (p.Arg34538=)
c.77508A>C (p.Arg25836=)
c.77367A>C (p.Arg25789=)
c.103410A>C (p.Arg34470=)
c.98808A>C (p.Arg32936=)
c.98805A>C (p.Arg32935=)
c.95847A>C (p.Arg31949=)
c.77463A>C (p.Arg25821=)
c.98958A>C (p.Arg32986=)
c.98955A>C (p.Arg32985=)
c.98388A>C (p.Arg32796=)
c.95730A>C (p.Arg31910=)
c.95649A>C (p.Arg31883=)
c.77412A>C (p.Arg25804=)
c.67266A>C (p.Arg22422=)
2g.178532099C>ACA349411486TTN,TTN-AS1c.96812G>T (p.Arg32271Leu)
c.77897G>T (p.Arg25966Leu)
c.77696G>T (p.Arg25899Leu)
c.77321G>T (p.Arg25774Leu)
c.104516G>T (p.Arg34839Leu)
c.99593G>T (p.Arg33198Leu)
n.446+8463C>A
n.220-3633C>A
c.103613G>T (p.Arg34538Leu)
c.77507G>T (p.Arg25836Leu)
c.77366G>T (p.Arg25789Leu)
c.103409G>T (p.Arg34470Leu)
c.98807G>T (p.Arg32936Leu)
c.98804G>T (p.Arg32935Leu)
c.95846G>T (p.Arg31949Leu)
c.77462G>T (p.Arg25821Leu)
c.98957G>T (p.Arg32986Leu)
c.98954G>T (p.Arg32985Leu)
c.98387G>T (p.Arg32796Leu)
c.95729G>T (p.Arg31910Leu)
c.95648G>T (p.Arg31883Leu)
c.77411G>T (p.Arg25804Leu)
c.67265G>T (p.Arg22422Leu)
2g.178532099C=CA1310518078TTN,TTN-AS1c.96812G= (p.Arg32271=)
c.77897G= (p.Arg25966=)
c.77696G= (p.Arg25899=)
c.77321G= (p.Arg25774=)
c.104516G= (p.Arg34839=)
c.99593G= (p.Arg33198=)
n.446+8463C=
n.220-3633C=
c.103613G= (p.Arg34538=)
c.77507G= (p.Arg25836=)
c.77366G= (p.Arg25789=)
c.103409G= (p.Arg34470=)
c.98807G= (p.Arg32936=)
c.98804G= (p.Arg32935=)
c.95846G= (p.Arg31949=)
c.77462G= (p.Arg25821=)
c.98957G= (p.Arg32986=)
c.98954G= (p.Arg32985=)
c.98387G= (p.Arg32796=)
c.95729G= (p.Arg31910=)
c.95648G= (p.Arg31883=)
c.77411G= (p.Arg25804=)
c.67265G= (p.Arg22422=)
2g.178532099C>GCA349411487TTN,TTN-AS1c.96812G>C (p.Arg32271Pro)
c.77897G>C (p.Arg25966Pro)
c.77696G>C (p.Arg25899Pro)
c.77321G>C (p.Arg25774Pro)
c.104516G>C (p.Arg34839Pro)
c.99593G>C (p.Arg33198Pro)
n.446+8463C>G
n.220-3633C>G
c.103613G>C (p.Arg34538Pro)
c.77507G>C (p.Arg25836Pro)
c.77366G>C (p.Arg25789Pro)
c.103409G>C (p.Arg34470Pro)
c.98807G>C (p.Arg32936Pro)
c.98804G>C (p.Arg32935Pro)
c.95846G>C (p.Arg31949Pro)
c.77462G>C (p.Arg25821Pro)
c.98957G>C (p.Arg32986Pro)
c.98954G>C (p.Arg32985Pro)
c.98387G>C (p.Arg32796Pro)
c.95729G>C (p.Arg31910Pro)
c.95648G>C (p.Arg31883Pro)
c.77411G>C (p.Arg25804Pro)
c.67265G>C (p.Arg22422Pro)
2g.178532099C>TCA1985413TTN,TTN-AS1c.96812G>A (p.Arg32271Gln)
c.77897G>A (p.Arg25966Gln)
c.77696G>A (p.Arg25899Gln)
c.77321G>A (p.Arg25774Gln)
c.104516G>A (p.Arg34839Gln)
c.99593G>A (p.Arg33198Gln)
n.446+8463C>T
n.220-3633C>T
c.103613G>A (p.Arg34538Gln)
c.77507G>A (p.Arg25836Gln)
c.77366G>A (p.Arg25789Gln)
c.103409G>A (p.Arg34470Gln)
c.98807G>A (p.Arg32936Gln)
c.98804G>A (p.Arg32935Gln)
c.95846G>A (p.Arg31949Gln)
c.77462G>A (p.Arg25821Gln)
c.98957G>A (p.Arg32986Gln)
c.98954G>A (p.Arg32985Gln)
c.98387G>A (p.Arg32796Gln)
c.95729G>A (p.Arg31910Gln)
c.95648G>A (p.Arg31883Gln)
c.77411G>A (p.Arg25804Gln)
c.67265G>A (p.Arg22422Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532100G>ACA349411489TTN,TTN-AS1c.96811C>T (p.Arg32271Ter)
c.77896C>T (p.Arg25966Ter)
c.77695C>T (p.Arg25899Ter)
c.77320C>T (p.Arg25774Ter)
c.104515C>T (p.Arg34839Ter)
c.99592C>T (p.Arg33198Ter)
n.446+8464G>A
n.220-3632G>A
c.103612C>T (p.Arg34538Ter)
c.77506C>T (p.Arg25836Ter)
c.77365C>T (p.Arg25789Ter)
c.103408C>T (p.Arg34470Ter)
c.98806C>T (p.Arg32936Ter)
c.98803C>T (p.Arg32935Ter)
c.95845C>T (p.Arg31949Ter)
c.77461C>T (p.Arg25821Ter)
c.98956C>T (p.Arg32986Ter)
c.98953C>T (p.Arg32985Ter)
c.98386C>T (p.Arg32796Ter)
c.95728C>T (p.Arg31910Ter)
c.95647C>T (p.Arg31883Ter)
c.77410C>T (p.Arg25804Ter)
c.67264C>T (p.Arg22422Ter)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532100G>CCA349411490TTN,TTN-AS1c.96811C>G (p.Arg32271Gly)
c.77896C>G (p.Arg25966Gly)
c.77695C>G (p.Arg25899Gly)
c.77320C>G (p.Arg25774Gly)
c.104515C>G (p.Arg34839Gly)
c.99592C>G (p.Arg33198Gly)
n.446+8464G>C
n.220-3632G>C
c.103612C>G (p.Arg34538Gly)
c.77506C>G (p.Arg25836Gly)
c.77365C>G (p.Arg25789Gly)
c.103408C>G (p.Arg34470Gly)
c.98806C>G (p.Arg32936Gly)
c.98803C>G (p.Arg32935Gly)
c.95845C>G (p.Arg31949Gly)
c.77461C>G (p.Arg25821Gly)
c.98956C>G (p.Arg32986Gly)
c.98953C>G (p.Arg32985Gly)
c.98386C>G (p.Arg32796Gly)
c.95728C>G (p.Arg31910Gly)
c.95647C>G (p.Arg31883Gly)
c.77410C>G (p.Arg25804Gly)
c.67264C>G (p.Arg22422Gly)
2g.178532100G=CA1310518079TTN,TTN-AS1c.96811C= (p.Arg32271=)
c.77896C= (p.Arg25966=)
c.77695C= (p.Arg25899=)
c.77320C= (p.Arg25774=)
c.104515C= (p.Arg34839=)
c.99592C= (p.Arg33198=)
n.446+8464G=
n.220-3632G=
c.103612C= (p.Arg34538=)
c.77506C= (p.Arg25836=)
c.77365C= (p.Arg25789=)
c.103408C= (p.Arg34470=)
c.98806C= (p.Arg32936=)
c.98803C= (p.Arg32935=)
c.95845C= (p.Arg31949=)
c.77461C= (p.Arg25821=)
c.98956C= (p.Arg32986=)
c.98953C= (p.Arg32985=)
c.98386C= (p.Arg32796=)
c.95728C= (p.Arg31910=)
c.95647C= (p.Arg31883=)
c.77410C= (p.Arg25804=)
c.67264C= (p.Arg22422=)
2g.178532100G>TCA430235861TTN,TTN-AS1c.96811C>A (p.Arg32271=)
c.77896C>A (p.Arg25966=)
c.77695C>A (p.Arg25899=)
c.77320C>A (p.Arg25774=)
c.104515C>A (p.Arg34839=)
c.99592C>A (p.Arg33198=)
n.446+8464G>T
n.220-3632G>T
c.103612C>A (p.Arg34538=)
c.77506C>A (p.Arg25836=)
c.77365C>A (p.Arg25789=)
c.103408C>A (p.Arg34470=)
c.98806C>A (p.Arg32936=)
c.98803C>A (p.Arg32935=)
c.95845C>A (p.Arg31949=)
c.77461C>A (p.Arg25821=)
c.98956C>A (p.Arg32986=)
c.98953C>A (p.Arg32985=)
c.98386C>A (p.Arg32796=)
c.95728C>A (p.Arg31910=)
c.95647C>A (p.Arg31883=)
c.77410C>A (p.Arg25804=)
c.67264C>A (p.Arg22422=)
 dbSNP gnomAD v4
2g.178532101T>ACA349411491TTN,TTN-AS1c.96810A>T (p.Arg32270Ser)
c.77895A>T (p.Arg25965Ser)
c.77694A>T (p.Arg25898Ser)
c.77319A>T (p.Arg25773Ser)
c.104514A>T (p.Arg34838Ser)
c.99591A>T (p.Arg33197Ser)
n.446+8465T>A
n.220-3631T>A
c.103611A>T (p.Arg34537Ser)
c.77505A>T (p.Arg25835Ser)
c.77364A>T (p.Arg25788Ser)
c.103407A>T (p.Arg34469Ser)
c.98805A>T (p.Arg32935Ser)
c.98802A>T (p.Arg32934Ser)
c.95844A>T (p.Arg31948Ser)
c.77460A>T (p.Arg25820Ser)
c.98955A>T (p.Arg32985Ser)
c.98952A>T (p.Arg32984Ser)
c.98385A>T (p.Arg32795Ser)
c.95727A>T (p.Arg31909Ser)
c.95646A>T (p.Arg31882Ser)
c.77409A>T (p.Arg25803Ser)
c.67263A>T (p.Arg22421Ser)
2g.178532101T>CCA430235862TTN,TTN-AS1c.96810A>G (p.Arg32270=)
c.77895A>G (p.Arg25965=)
c.77694A>G (p.Arg25898=)
c.77319A>G (p.Arg25773=)
c.104514A>G (p.Arg34838=)
c.99591A>G (p.Arg33197=)
n.446+8465T>C
n.220-3631T>C
c.103611A>G (p.Arg34537=)
c.77505A>G (p.Arg25835=)
c.77364A>G (p.Arg25788=)
c.103407A>G (p.Arg34469=)
c.98805A>G (p.Arg32935=)
c.98802A>G (p.Arg32934=)
c.95844A>G (p.Arg31948=)
c.77460A>G (p.Arg25820=)
c.98955A>G (p.Arg32985=)
c.98952A>G (p.Arg32984=)
c.98385A>G (p.Arg32795=)
c.95727A>G (p.Arg31909=)
c.95646A>G (p.Arg31882=)
c.77409A>G (p.Arg25803=)
c.67263A>G (p.Arg22421=)
2g.178532101T>GCA349411492TTN,TTN-AS1c.96810A>C (p.Arg32270Ser)
c.77895A>C (p.Arg25965Ser)
c.77694A>C (p.Arg25898Ser)
c.77319A>C (p.Arg25773Ser)
c.104514A>C (p.Arg34838Ser)
c.99591A>C (p.Arg33197Ser)
n.446+8465T>G
n.220-3631T>G
c.103611A>C (p.Arg34537Ser)
c.77505A>C (p.Arg25835Ser)
c.77364A>C (p.Arg25788Ser)
c.103407A>C (p.Arg34469Ser)
c.98805A>C (p.Arg32935Ser)
c.98802A>C (p.Arg32934Ser)
c.95844A>C (p.Arg31948Ser)
c.77460A>C (p.Arg25820Ser)
c.98955A>C (p.Arg32985Ser)
c.98952A>C (p.Arg32984Ser)
c.98385A>C (p.Arg32795Ser)
c.95727A>C (p.Arg31909Ser)
c.95646A>C (p.Arg31882Ser)
c.77409A>C (p.Arg25803Ser)
c.67263A>C (p.Arg22421Ser)
2g.178532102C>ACA349411494TTN,TTN-AS1c.96809G>T (p.Arg32270Ile)
c.77894G>T (p.Arg25965Ile)
c.77693G>T (p.Arg25898Ile)
c.77318G>T (p.Arg25773Ile)
c.104513G>T (p.Arg34838Ile)
c.99590G>T (p.Arg33197Ile)
n.446+8466C>A
n.220-3630C>A
c.103610G>T (p.Arg34537Ile)
c.77504G>T (p.Arg25835Ile)
c.77363G>T (p.Arg25788Ile)
c.103406G>T (p.Arg34469Ile)
c.98804G>T (p.Arg32935Ile)
c.98801G>T (p.Arg32934Ile)
c.95843G>T (p.Arg31948Ile)
c.77459G>T (p.Arg25820Ile)
c.98954G>T (p.Arg32985Ile)
c.98951G>T (p.Arg32984Ile)
c.98384G>T (p.Arg32795Ile)
c.95726G>T (p.Arg31909Ile)
c.95645G>T (p.Arg31882Ile)
c.77408G>T (p.Arg25803Ile)
c.67262G>T (p.Arg22421Ile)
2g.178532102C>GCA349411496TTN,TTN-AS1c.96809G>C (p.Arg32270Thr)
c.77894G>C (p.Arg25965Thr)
c.77693G>C (p.Arg25898Thr)
c.77318G>C (p.Arg25773Thr)
c.104513G>C (p.Arg34838Thr)
c.99590G>C (p.Arg33197Thr)
n.446+8466C>G
n.220-3630C>G
c.103610G>C (p.Arg34537Thr)
c.77504G>C (p.Arg25835Thr)
c.77363G>C (p.Arg25788Thr)
c.103406G>C (p.Arg34469Thr)
c.98804G>C (p.Arg32935Thr)
c.98801G>C (p.Arg32934Thr)
c.95843G>C (p.Arg31948Thr)
c.77459G>C (p.Arg25820Thr)
c.98954G>C (p.Arg32985Thr)
c.98951G>C (p.Arg32984Thr)
c.98384G>C (p.Arg32795Thr)
c.95726G>C (p.Arg31909Thr)
c.95645G>C (p.Arg31882Thr)
c.77408G>C (p.Arg25803Thr)
c.67262G>C (p.Arg22421Thr)
2g.178532102C>TCA349411497TTN,TTN-AS1c.96809G>A (p.Arg32270Lys)
c.77894G>A (p.Arg25965Lys)
c.77693G>A (p.Arg25898Lys)
c.77318G>A (p.Arg25773Lys)
c.104513G>A (p.Arg34838Lys)
c.99590G>A (p.Arg33197Lys)
n.446+8466C>T
n.220-3630C>T
c.103610G>A (p.Arg34537Lys)
c.77504G>A (p.Arg25835Lys)
c.77363G>A (p.Arg25788Lys)
c.103406G>A (p.Arg34469Lys)
c.98804G>A (p.Arg32935Lys)
c.98801G>A (p.Arg32934Lys)
c.95843G>A (p.Arg31948Lys)
c.77459G>A (p.Arg25820Lys)
c.98954G>A (p.Arg32985Lys)
c.98951G>A (p.Arg32984Lys)
c.98384G>A (p.Arg32795Lys)
c.95726G>A (p.Arg31909Lys)
c.95645G>A (p.Arg31882Lys)
c.77408G>A (p.Arg25803Lys)
c.67262G>A (p.Arg22421Lys)
 ClinVar
2g.178532103T>ACA349411499TTN,TTN-AS1c.96808A>T (p.Arg32270Ter)
c.77893A>T (p.Arg25965Ter)
c.77692A>T (p.Arg25898Ter)
c.77317A>T (p.Arg25773Ter)
c.104512A>T (p.Arg34838Ter)
c.99589A>T (p.Arg33197Ter)
n.446+8467T>A
n.220-3629T>A
c.103609A>T (p.Arg34537Ter)
c.77503A>T (p.Arg25835Ter)
c.77362A>T (p.Arg25788Ter)
c.103405A>T (p.Arg34469Ter)
c.98803A>T (p.Arg32935Ter)
c.98800A>T (p.Arg32934Ter)
c.95842A>T (p.Arg31948Ter)
c.77458A>T (p.Arg25820Ter)
c.98953A>T (p.Arg32985Ter)
c.98950A>T (p.Arg32984Ter)
c.98383A>T (p.Arg32795Ter)
c.95725A>T (p.Arg31909Ter)
c.95644A>T (p.Arg31882Ter)
c.77407A>T (p.Arg25803Ter)
c.67261A>T (p.Arg22421Ter)
2g.178532103T>CCA349411500TTN,TTN-AS1c.96808A>G (p.Arg32270Gly)
c.77893A>G (p.Arg25965Gly)
c.77692A>G (p.Arg25898Gly)
c.77317A>G (p.Arg25773Gly)
c.104512A>G (p.Arg34838Gly)
c.99589A>G (p.Arg33197Gly)
n.446+8467T>C
n.220-3629T>C
c.103609A>G (p.Arg34537Gly)
c.77503A>G (p.Arg25835Gly)
c.77362A>G (p.Arg25788Gly)
c.103405A>G (p.Arg34469Gly)
c.98803A>G (p.Arg32935Gly)
c.98800A>G (p.Arg32934Gly)
c.95842A>G (p.Arg31948Gly)
c.77458A>G (p.Arg25820Gly)
c.98953A>G (p.Arg32985Gly)
c.98950A>G (p.Arg32984Gly)
c.98383A>G (p.Arg32795Gly)
c.95725A>G (p.Arg31909Gly)
c.95644A>G (p.Arg31882Gly)
c.77407A>G (p.Arg25803Gly)
c.67261A>G (p.Arg22421Gly)
2g.178532103T>GCA430235863TTN,TTN-AS1c.96808A>C (p.Arg32270=)
c.77893A>C (p.Arg25965=)
c.77692A>C (p.Arg25898=)
c.77317A>C (p.Arg25773=)
c.104512A>C (p.Arg34838=)
c.99589A>C (p.Arg33197=)
n.446+8467T>G
n.220-3629T>G
c.103609A>C (p.Arg34537=)
c.77503A>C (p.Arg25835=)
c.77362A>C (p.Arg25788=)
c.103405A>C (p.Arg34469=)
c.98803A>C (p.Arg32935=)
c.98800A>C (p.Arg32934=)
c.95842A>C (p.Arg31948=)
c.77458A>C (p.Arg25820=)
c.98953A>C (p.Arg32985=)
c.98950A>C (p.Arg32984=)
c.98383A>C (p.Arg32795=)
c.95725A>C (p.Arg31909=)
c.95644A>C (p.Arg31882=)
c.77407A>C (p.Arg25803=)
c.67261A>C (p.Arg22421=)
 ClinVar gnomAD v4
2g.178532104C>ACA430235864TTN,TTN-AS1c.96807G>T (p.Leu32269=)
c.77892G>T (p.Leu25964=)
c.77691G>T (p.Leu25897=)
c.77316G>T (p.Leu25772=)
c.104511G>T (p.Leu34837=)
c.99588G>T (p.Leu33196=)
n.446+8468C>A
n.220-3628C>A
c.103608G>T (p.Leu34536=)
c.77502G>T (p.Leu25834=)
c.77361G>T (p.Leu25787=)
c.103404G>T (p.Leu34468=)
c.98802G>T (p.Leu32934=)
c.98799G>T (p.Leu32933=)
c.95841G>T (p.Leu31947=)
c.77457G>T (p.Leu25819=)
c.98952G>T (p.Leu32984=)
c.98949G>T (p.Leu32983=)
c.98382G>T (p.Leu32794=)
c.95724G>T (p.Leu31908=)
c.95643G>T (p.Leu31881=)
c.77406G>T (p.Leu25802=)
c.67260G>T (p.Leu22420=)
2g.178532104C=CA1310518080TTN,TTN-AS1c.96807G= (p.Leu32269=)
c.77892G= (p.Leu25964=)
c.77691G= (p.Leu25897=)
c.77316G= (p.Leu25772=)
c.104511G= (p.Leu34837=)
c.99588G= (p.Leu33196=)
n.446+8468C=
n.220-3628C=
c.103608G= (p.Leu34536=)
c.77502G= (p.Leu25834=)
c.77361G= (p.Leu25787=)
c.103404G= (p.Leu34468=)
c.98802G= (p.Leu32934=)
c.98799G= (p.Leu32933=)
c.95841G= (p.Leu31947=)
c.77457G= (p.Leu25819=)
c.98952G= (p.Leu32984=)
c.98949G= (p.Leu32983=)
c.98382G= (p.Leu32794=)
c.95724G= (p.Leu31908=)
c.95643G= (p.Leu31881=)
c.77406G= (p.Leu25802=)
c.67260G= (p.Leu22420=)
2g.178532104C>GCA430235865TTN,TTN-AS1c.96807G>C (p.Leu32269=)
c.77892G>C (p.Leu25964=)
c.77691G>C (p.Leu25897=)
c.77316G>C (p.Leu25772=)
c.104511G>C (p.Leu34837=)
c.99588G>C (p.Leu33196=)
n.446+8468C>G
n.220-3628C>G
c.103608G>C (p.Leu34536=)
c.77502G>C (p.Leu25834=)
c.77361G>C (p.Leu25787=)
c.103404G>C (p.Leu34468=)
c.98802G>C (p.Leu32934=)
c.98799G>C (p.Leu32933=)
c.95841G>C (p.Leu31947=)
c.77457G>C (p.Leu25819=)
c.98952G>C (p.Leu32984=)
c.98949G>C (p.Leu32983=)
c.98382G>C (p.Leu32794=)
c.95724G>C (p.Leu31908=)
c.95643G>C (p.Leu31881=)
c.77406G>C (p.Leu25802=)
c.67260G>C (p.Leu22420=)
2g.178532104C>TCA430235866TTN,TTN-AS1c.96807G>A (p.Leu32269=)
c.77892G>A (p.Leu25964=)
c.77691G>A (p.Leu25897=)
c.77316G>A (p.Leu25772=)
c.104511G>A (p.Leu34837=)
c.99588G>A (p.Leu33196=)
n.446+8468C>T
n.220-3628C>T
c.103608G>A (p.Leu34536=)
c.77502G>A (p.Leu25834=)
c.77361G>A (p.Leu25787=)
c.103404G>A (p.Leu34468=)
c.98802G>A (p.Leu32934=)
c.98799G>A (p.Leu32933=)
c.95841G>A (p.Leu31947=)
c.77457G>A (p.Leu25819=)
c.98952G>A (p.Leu32984=)
c.98949G>A (p.Leu32983=)
c.98382G>A (p.Leu32794=)
c.95724G>A (p.Leu31908=)
c.95643G>A (p.Leu31881=)
c.77406G>A (p.Leu25802=)
c.67260G>A (p.Leu22420=)
 dbSNP gnomAD v4
2g.178532104_178532107delinsCAGTCA1310518081TTN,TTN-AS1c.96804_96807delinsACTG (p.Leu32268=)
c.77889_77892delinsACTG (p.Leu25963=)
c.77688_77691delinsACTG (p.Leu25896=)
c.77313_77316delinsACTG (p.Leu25771=)
c.104508_104511delinsACTG (p.Leu34836=)
c.99585_99588delinsACTG (p.Leu33195=)
n.446+8468_446+8471delinsCAGT
n.220-3628_220-3625delinsCAGT
c.103605_103608delinsACTG (p.Leu34535=)
c.77499_77502delinsACTG (p.Leu25833=)
c.77358_77361delinsACTG (p.Leu25786=)
c.103401_103404delinsACTG (p.Leu34467=)
c.98799_98802delinsACTG (p.Leu32933=)
c.98796_98799delinsACTG (p.Leu32932=)
c.95838_95841delinsACTG (p.Leu31946=)
c.77454_77457delinsACTG (p.Leu25818=)
c.98949_98952delinsACTG (p.Leu32983=)
c.98946_98949delinsACTG (p.Leu32982=)
c.98379_98382delinsACTG (p.Leu32793=)
c.95721_95724delinsACTG (p.Leu31907=)
c.95640_95643delinsACTG (p.Leu31880=)
c.77403_77406delinsACTG (p.Leu25801=)
c.67257_67260delinsACTG (p.Leu22419=)
2g.178532105A>CCA349411508TTN,TTN-AS1c.96806T>G (p.Leu32269Arg)
c.77891T>G (p.Leu25964Arg)
c.77690T>G (p.Leu25897Arg)
c.77315T>G (p.Leu25772Arg)
c.104510T>G (p.Leu34837Arg)
c.99587T>G (p.Leu33196Arg)
n.446+8469A>C
n.220-3627A>C
c.103607T>G (p.Leu34536Arg)
c.77501T>G (p.Leu25834Arg)
c.77360T>G (p.Leu25787Arg)
c.103403T>G (p.Leu34468Arg)
c.98801T>G (p.Leu32934Arg)
c.98798T>G (p.Leu32933Arg)
c.95840T>G (p.Leu31947Arg)
c.77456T>G (p.Leu25819Arg)
c.98951T>G (p.Leu32984Arg)
c.98948T>G (p.Leu32983Arg)
c.98381T>G (p.Leu32794Arg)
c.95723T>G (p.Leu31908Arg)
c.95642T>G (p.Leu31881Arg)
c.77405T>G (p.Leu25802Arg)
c.67259T>G (p.Leu22420Arg)
 gnomAD v4
2g.178532105A>GCA349411506TTN,TTN-AS1c.96806T>C (p.Leu32269Pro)
c.77891T>C (p.Leu25964Pro)
c.77690T>C (p.Leu25897Pro)
c.77315T>C (p.Leu25772Pro)
c.104510T>C (p.Leu34837Pro)
c.99587T>C (p.Leu33196Pro)
n.446+8469A>G
n.220-3627A>G
c.103607T>C (p.Leu34536Pro)
c.77501T>C (p.Leu25834Pro)
c.77360T>C (p.Leu25787Pro)
c.103403T>C (p.Leu34468Pro)
c.98801T>C (p.Leu32934Pro)
c.98798T>C (p.Leu32933Pro)
c.95840T>C (p.Leu31947Pro)
c.77456T>C (p.Leu25819Pro)
c.98951T>C (p.Leu32984Pro)
c.98948T>C (p.Leu32983Pro)
c.98381T>C (p.Leu32794Pro)
c.95723T>C (p.Leu31908Pro)
c.95642T>C (p.Leu31881Pro)
c.77405T>C (p.Leu25802Pro)
c.67259T>C (p.Leu22420Pro)
2g.178532105A>TCA349411503TTN,TTN-AS1c.96806T>A (p.Leu32269Gln)
c.77891T>A (p.Leu25964Gln)
c.77690T>A (p.Leu25897Gln)
c.77315T>A (p.Leu25772Gln)
c.104510T>A (p.Leu34837Gln)
c.99587T>A (p.Leu33196Gln)
n.446+8469A>T
n.220-3627A>T
c.103607T>A (p.Leu34536Gln)
c.77501T>A (p.Leu25834Gln)
c.77360T>A (p.Leu25787Gln)
c.103403T>A (p.Leu34468Gln)
c.98801T>A (p.Leu32934Gln)
c.98798T>A (p.Leu32933Gln)
c.95840T>A (p.Leu31947Gln)
c.77456T>A (p.Leu25819Gln)
c.98951T>A (p.Leu32984Gln)
c.98948T>A (p.Leu32983Gln)
c.98381T>A (p.Leu32794Gln)
c.95723T>A (p.Leu31908Gln)
c.95642T>A (p.Leu31881Gln)
c.77405T>A (p.Leu25802Gln)
c.67259T>A (p.Leu22420Gln)
2g.178532105_178532106delCA2580064585TTN,TTN-AS1c.96805_96806del (p.Leu32269GlufsTer12)
c.77890_77891del (p.Leu25964GlufsTer12)
c.77689_77690del (p.Leu25897GlufsTer12)
c.77314_77315del (p.Leu25772GlufsTer12)
c.104509_104510del (p.Leu34837GlufsTer12)
c.99586_99587del (p.Leu33196GlufsTer12)
n.446+8469_446+8470del
n.220-3627_220-3626del
c.103606_103607del (p.Leu34536GlufsTer12)
c.77500_77501del (p.Leu25834GlufsTer12)
c.77359_77360del (p.Leu25787GlufsTer12)
c.103402_103403del (p.Leu34468GlufsTer12)
c.98800_98801del (p.Leu32934GlufsTer12)
c.98797_98798del (p.Leu32933GlufsTer12)
c.95839_95840del (p.Leu31947GlufsTer12)
c.77455_77456del (p.Leu25819GlufsTer12)
c.98950_98951del (p.Leu32984GlufsTer12)
c.98947_98948del (p.Leu32983GlufsTer12)
c.98380_98381del (p.Leu32794GlufsTer12)
c.95722_95723del (p.Leu31908GlufsTer12)
c.95641_95642del (p.Leu31881GlufsTer12)
c.77404_77405del (p.Leu25802GlufsTer12)
c.67258_67259del (p.Leu22420GlufsTer12)
 ClinVar
2g.178532108_178532110delCA1985414TTN,TTN-AS1c.96804_96806del (p.Leu32269del)
c.77889_77891del (p.Leu25964del)
c.77688_77690del (p.Leu25897del)
c.77313_77315del (p.Leu25772del)
c.104508_104510del (p.Leu34837del)
c.99585_99587del (p.Leu33196del)
n.446+8472_446+8474del
n.220-3624_220-3622del
c.103605_103607del (p.Leu34536del)
c.77499_77501del (p.Leu25834del)
c.77358_77360del (p.Leu25787del)
c.103401_103403del (p.Leu34468del)
c.98799_98801del (p.Leu32934del)
c.98796_98798del (p.Leu32933del)
c.95838_95840del (p.Leu31947del)
c.77454_77456del (p.Leu25819del)
c.98949_98951del (p.Leu32984del)
c.98946_98948del (p.Leu32983del)
c.98379_98381del (p.Leu32794del)
c.95721_95723del (p.Leu31908del)
c.95640_95642del (p.Leu31881del)
c.77403_77405del (p.Leu25802del)
c.67257_67259del (p.Leu22420del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532106G>ACA430235867TTN,TTN-AS1c.96805C>T (p.Leu32269=)
c.77890C>T (p.Leu25964=)
c.77689C>T (p.Leu25897=)
c.77314C>T (p.Leu25772=)
c.104509C>T (p.Leu34837=)
c.99586C>T (p.Leu33196=)
n.446+8470G>A
n.220-3626G>A
c.103606C>T (p.Leu34536=)
c.77500C>T (p.Leu25834=)
c.77359C>T (p.Leu25787=)
c.103402C>T (p.Leu34468=)
c.98800C>T (p.Leu32934=)
c.98797C>T (p.Leu32933=)
c.95839C>T (p.Leu31947=)
c.77455C>T (p.Leu25819=)
c.98950C>T (p.Leu32984=)
c.98947C>T (p.Leu32983=)
c.98380C>T (p.Leu32794=)
c.95722C>T (p.Leu31908=)
c.95641C>T (p.Leu31881=)
c.77404C>T (p.Leu25802=)
c.67258C>T (p.Leu22420=)
 gnomAD v4
2g.178532106G>CCA349411509TTN,TTN-AS1c.96805C>G (p.Leu32269Val)
c.77890C>G (p.Leu25964Val)
c.77689C>G (p.Leu25897Val)
c.77314C>G (p.Leu25772Val)
c.104509C>G (p.Leu34837Val)
c.99586C>G (p.Leu33196Val)
n.446+8470G>C
n.220-3626G>C
c.103606C>G (p.Leu34536Val)
c.77500C>G (p.Leu25834Val)
c.77359C>G (p.Leu25787Val)
c.103402C>G (p.Leu34468Val)
c.98800C>G (p.Leu32934Val)
c.98797C>G (p.Leu32933Val)
c.95839C>G (p.Leu31947Val)
c.77455C>G (p.Leu25819Val)
c.98950C>G (p.Leu32984Val)
c.98947C>G (p.Leu32983Val)
c.98380C>G (p.Leu32794Val)
c.95722C>G (p.Leu31908Val)
c.95641C>G (p.Leu31881Val)
c.77404C>G (p.Leu25802Val)
c.67258C>G (p.Leu22420Val)
 ClinVar gnomAD v4
2g.178532106G>TCA349411511TTN,TTN-AS1c.96805C>A (p.Leu32269Met)
c.77890C>A (p.Leu25964Met)
c.77689C>A (p.Leu25897Met)
c.77314C>A (p.Leu25772Met)
c.104509C>A (p.Leu34837Met)
c.99586C>A (p.Leu33196Met)
n.446+8470G>T
n.220-3626G>T
c.103606C>A (p.Leu34536Met)
c.77500C>A (p.Leu25834Met)
c.77359C>A (p.Leu25787Met)
c.103402C>A (p.Leu34468Met)
c.98800C>A (p.Leu32934Met)
c.98797C>A (p.Leu32933Met)
c.95839C>A (p.Leu31947Met)
c.77455C>A (p.Leu25819Met)
c.98950C>A (p.Leu32984Met)
c.98947C>A (p.Leu32983Met)
c.98380C>A (p.Leu32794Met)
c.95722C>A (p.Leu31908Met)
c.95641C>A (p.Leu31881Met)
c.77404C>A (p.Leu25802Met)
c.67258C>A (p.Leu22420Met)
2g.178532107T>ACA430235868TTN,TTN-AS1c.96804A>T (p.Leu32268=)
c.77889A>T (p.Leu25963=)
c.77688A>T (p.Leu25896=)
c.77313A>T (p.Leu25771=)
c.104508A>T (p.Leu34836=)
c.99585A>T (p.Leu33195=)
n.446+8471T>A
n.220-3625T>A
c.103605A>T (p.Leu34535=)
c.77499A>T (p.Leu25833=)
c.77358A>T (p.Leu25786=)
c.103401A>T (p.Leu34467=)
c.98799A>T (p.Leu32933=)
c.98796A>T (p.Leu32932=)
c.95838A>T (p.Leu31946=)
c.77454A>T (p.Leu25818=)
c.98949A>T (p.Leu32983=)
c.98946A>T (p.Leu32982=)
c.98379A>T (p.Leu32793=)
c.95721A>T (p.Leu31907=)
c.95640A>T (p.Leu31880=)
c.77403A>T (p.Leu25801=)
c.67257A>T (p.Leu22419=)
2g.178532107T>CCA430235869TTN,TTN-AS1c.96804A>G (p.Leu32268=)
c.77889A>G (p.Leu25963=)
c.77688A>G (p.Leu25896=)
c.77313A>G (p.Leu25771=)
c.104508A>G (p.Leu34836=)
c.99585A>G (p.Leu33195=)
n.446+8471T>C
n.220-3625T>C
c.103605A>G (p.Leu34535=)
c.77499A>G (p.Leu25833=)
c.77358A>G (p.Leu25786=)
c.103401A>G (p.Leu34467=)
c.98799A>G (p.Leu32933=)
c.98796A>G (p.Leu32932=)
c.95838A>G (p.Leu31946=)
c.77454A>G (p.Leu25818=)
c.98949A>G (p.Leu32983=)
c.98946A>G (p.Leu32982=)
c.98379A>G (p.Leu32793=)
c.95721A>G (p.Leu31907=)
c.95640A>G (p.Leu31880=)
c.77403A>G (p.Leu25801=)
c.67257A>G (p.Leu22419=)
2g.178532107T>GCA430235870TTN,TTN-AS1c.96804A>C (p.Leu32268=)
c.77889A>C (p.Leu25963=)
c.77688A>C (p.Leu25896=)
c.77313A>C (p.Leu25771=)
c.104508A>C (p.Leu34836=)
c.99585A>C (p.Leu33195=)
n.446+8471T>G
n.220-3625T>G
c.103605A>C (p.Leu34535=)
c.77499A>C (p.Leu25833=)
c.77358A>C (p.Leu25786=)
c.103401A>C (p.Leu34467=)
c.98799A>C (p.Leu32933=)
c.98796A>C (p.Leu32932=)
c.95838A>C (p.Leu31946=)
c.77454A>C (p.Leu25818=)
c.98949A>C (p.Leu32983=)
c.98946A>C (p.Leu32982=)
c.98379A>C (p.Leu32793=)
c.95721A>C (p.Leu31907=)
c.95640A>C (p.Leu31880=)
c.77403A>C (p.Leu25801=)
c.67257A>C (p.Leu22419=)
2g.178532108A>CCA349411513TTN,TTN-AS1c.96803T>G (p.Leu32268Arg)
c.77888T>G (p.Leu25963Arg)
c.77687T>G (p.Leu25896Arg)
c.77312T>G (p.Leu25771Arg)
c.104507T>G (p.Leu34836Arg)
c.99584T>G (p.Leu33195Arg)
n.446+8472A>C
n.220-3624A>C
c.103604T>G (p.Leu34535Arg)
c.77498T>G (p.Leu25833Arg)
c.77357T>G (p.Leu25786Arg)
c.103400T>G (p.Leu34467Arg)
c.98798T>G (p.Leu32933Arg)
c.98795T>G (p.Leu32932Arg)
c.95837T>G (p.Leu31946Arg)
c.77453T>G (p.Leu25818Arg)
c.98948T>G (p.Leu32983Arg)
c.98945T>G (p.Leu32982Arg)
c.98378T>G (p.Leu32793Arg)
c.95720T>G (p.Leu31907Arg)
c.95639T>G (p.Leu31880Arg)
c.77402T>G (p.Leu25801Arg)
c.67256T>G (p.Leu22419Arg)
2g.178532108A>GCA349411514TTN,TTN-AS1c.96803T>C (p.Leu32268Pro)
c.77888T>C (p.Leu25963Pro)
c.77687T>C (p.Leu25896Pro)
c.77312T>C (p.Leu25771Pro)
c.104507T>C (p.Leu34836Pro)
c.99584T>C (p.Leu33195Pro)
n.446+8472A>G
n.220-3624A>G
c.103604T>C (p.Leu34535Pro)
c.77498T>C (p.Leu25833Pro)
c.77357T>C (p.Leu25786Pro)
c.103400T>C (p.Leu34467Pro)
c.98798T>C (p.Leu32933Pro)
c.98795T>C (p.Leu32932Pro)
c.95837T>C (p.Leu31946Pro)
c.77453T>C (p.Leu25818Pro)
c.98948T>C (p.Leu32983Pro)
c.98945T>C (p.Leu32982Pro)
c.98378T>C (p.Leu32793Pro)
c.95720T>C (p.Leu31907Pro)
c.95639T>C (p.Leu31880Pro)
c.77402T>C (p.Leu25801Pro)
c.67256T>C (p.Leu22419Pro)
2g.178532108A>TCA349411516TTN,TTN-AS1c.96803T>A (p.Leu32268Gln)
c.77888T>A (p.Leu25963Gln)
c.77687T>A (p.Leu25896Gln)
c.77312T>A (p.Leu25771Gln)
c.104507T>A (p.Leu34836Gln)
c.99584T>A (p.Leu33195Gln)
n.446+8472A>T
n.220-3624A>T
c.103604T>A (p.Leu34535Gln)
c.77498T>A (p.Leu25833Gln)
c.77357T>A (p.Leu25786Gln)
c.103400T>A (p.Leu34467Gln)
c.98798T>A (p.Leu32933Gln)
c.98795T>A (p.Leu32932Gln)
c.95837T>A (p.Leu31946Gln)
c.77453T>A (p.Leu25818Gln)
c.98948T>A (p.Leu32983Gln)
c.98945T>A (p.Leu32982Gln)
c.98378T>A (p.Leu32793Gln)
c.95720T>A (p.Leu31907Gln)
c.95639T>A (p.Leu31880Gln)
c.77402T>A (p.Leu25801Gln)
c.67256T>A (p.Leu22419Gln)
2g.178532109G>ACA430235871TTN,TTN-AS1c.96802C>T (p.Leu32268=)
c.77887C>T (p.Leu25963=)
c.77686C>T (p.Leu25896=)
c.77311C>T (p.Leu25771=)
c.104506C>T (p.Leu34836=)
c.99583C>T (p.Leu33195=)
n.446+8473G>A
n.220-3623G>A
c.103603C>T (p.Leu34535=)
c.77497C>T (p.Leu25833=)
c.77356C>T (p.Leu25786=)
c.103399C>T (p.Leu34467=)
c.98797C>T (p.Leu32933=)
c.98794C>T (p.Leu32932=)
c.95836C>T (p.Leu31946=)
c.77452C>T (p.Leu25818=)
c.98947C>T (p.Leu32983=)
c.98944C>T (p.Leu32982=)
c.98377C>T (p.Leu32793=)
c.95719C>T (p.Leu31907=)
c.95638C>T (p.Leu31880=)
c.77401C>T (p.Leu25801=)
c.67255C>T (p.Leu22419=)
 gnomAD v4
2g.178532109G>CCA349411517TTN,TTN-AS1c.96802C>G (p.Leu32268Val)
c.77887C>G (p.Leu25963Val)
c.77686C>G (p.Leu25896Val)
c.77311C>G (p.Leu25771Val)
c.104506C>G (p.Leu34836Val)
c.99583C>G (p.Leu33195Val)
n.446+8473G>C
n.220-3623G>C
c.103603C>G (p.Leu34535Val)
c.77497C>G (p.Leu25833Val)
c.77356C>G (p.Leu25786Val)
c.103399C>G (p.Leu34467Val)
c.98797C>G (p.Leu32933Val)
c.98794C>G (p.Leu32932Val)
c.95836C>G (p.Leu31946Val)
c.77452C>G (p.Leu25818Val)
c.98947C>G (p.Leu32983Val)
c.98944C>G (p.Leu32982Val)
c.98377C>G (p.Leu32793Val)
c.95719C>G (p.Leu31907Val)
c.95638C>G (p.Leu31880Val)
c.77401C>G (p.Leu25801Val)
c.67255C>G (p.Leu22419Val)
2g.178532109G=CA1310518082TTN,TTN-AS1c.96802C= (p.Leu32268=)
c.77887C= (p.Leu25963=)
c.77686C= (p.Leu25896=)
c.77311C= (p.Leu25771=)
c.104506C= (p.Leu34836=)
c.99583C= (p.Leu33195=)
n.446+8473G=
n.220-3623G=
c.103603C= (p.Leu34535=)
c.77497C= (p.Leu25833=)
c.77356C= (p.Leu25786=)
c.103399C= (p.Leu34467=)
c.98797C= (p.Leu32933=)
c.98794C= (p.Leu32932=)
c.95836C= (p.Leu31946=)
c.77452C= (p.Leu25818=)
c.98947C= (p.Leu32983=)
c.98944C= (p.Leu32982=)
c.98377C= (p.Leu32793=)
c.95719C= (p.Leu31907=)
c.95638C= (p.Leu31880=)
c.77401C= (p.Leu25801=)
c.67255C= (p.Leu22419=)
2g.178532109G>TCA349411519TTN,TTN-AS1c.96802C>A (p.Leu32268Ile)
c.77887C>A (p.Leu25963Ile)
c.77686C>A (p.Leu25896Ile)
c.77311C>A (p.Leu25771Ile)
c.104506C>A (p.Leu34836Ile)
c.99583C>A (p.Leu33195Ile)
n.446+8473G>T
n.220-3623G>T
c.103603C>A (p.Leu34535Ile)
c.77497C>A (p.Leu25833Ile)
c.77356C>A (p.Leu25786Ile)
c.103399C>A (p.Leu34467Ile)
c.98797C>A (p.Leu32933Ile)
c.98794C>A (p.Leu32932Ile)
c.95836C>A (p.Leu31946Ile)
c.77452C>A (p.Leu25818Ile)
c.98947C>A (p.Leu32983Ile)
c.98944C>A (p.Leu32982Ile)
c.98377C>A (p.Leu32793Ile)
c.95719C>A (p.Leu31907Ile)
c.95638C>A (p.Leu31880Ile)
c.77401C>A (p.Leu25801Ile)
c.67255C>A (p.Leu22419Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.178532110T>ACA349411521TTN,TTN-AS1c.96801A>T (p.Arg32267Ser)
c.77886A>T (p.Arg25962Ser)
c.77685A>T (p.Arg25895Ser)
c.77310A>T (p.Arg25770Ser)
c.104505A>T (p.Arg34835Ser)
c.99582A>T (p.Arg33194Ser)
n.446+8474T>A
n.220-3622T>A
c.103602A>T (p.Arg34534Ser)
c.77496A>T (p.Arg25832Ser)
c.77355A>T (p.Arg25785Ser)
c.103398A>T (p.Arg34466Ser)
c.98796A>T (p.Arg32932Ser)
c.98793A>T (p.Arg32931Ser)
c.95835A>T (p.Arg31945Ser)
c.77451A>T (p.Arg25817Ser)
c.98946A>T (p.Arg32982Ser)
c.98943A>T (p.Arg32981Ser)
c.98376A>T (p.Arg32792Ser)
c.95718A>T (p.Arg31906Ser)
c.95637A>T (p.Arg31879Ser)
c.77400A>T (p.Arg25800Ser)
c.67254A>T (p.Arg22418Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178532110T>CCA430235872TTN,TTN-AS1c.96801A>G (p.Arg32267=)
c.77886A>G (p.Arg25962=)
c.77685A>G (p.Arg25895=)
c.77310A>G (p.Arg25770=)
c.104505A>G (p.Arg34835=)
c.99582A>G (p.Arg33194=)
n.446+8474T>C
n.220-3622T>C
c.103602A>G (p.Arg34534=)
c.77496A>G (p.Arg25832=)
c.77355A>G (p.Arg25785=)
c.103398A>G (p.Arg34466=)
c.98796A>G (p.Arg32932=)
c.98793A>G (p.Arg32931=)
c.95835A>G (p.Arg31945=)
c.77451A>G (p.Arg25817=)
c.98946A>G (p.Arg32982=)
c.98943A>G (p.Arg32981=)
c.98376A>G (p.Arg32792=)
c.95718A>G (p.Arg31906=)
c.95637A>G (p.Arg31879=)
c.77400A>G (p.Arg25800=)
c.67254A>G (p.Arg22418=)
2g.178532110T>GCA349411522TTN,TTN-AS1c.96801A>C (p.Arg32267Ser)
c.77886A>C (p.Arg25962Ser)
c.77685A>C (p.Arg25895Ser)
c.77310A>C (p.Arg25770Ser)
c.104505A>C (p.Arg34835Ser)
c.99582A>C (p.Arg33194Ser)
n.446+8474T>G
n.220-3622T>G
c.103602A>C (p.Arg34534Ser)
c.77496A>C (p.Arg25832Ser)
c.77355A>C (p.Arg25785Ser)
c.103398A>C (p.Arg34466Ser)
c.98796A>C (p.Arg32932Ser)
c.98793A>C (p.Arg32931Ser)
c.95835A>C (p.Arg31945Ser)
c.77451A>C (p.Arg25817Ser)
c.98946A>C (p.Arg32982Ser)
c.98943A>C (p.Arg32981Ser)
c.98376A>C (p.Arg32792Ser)
c.95718A>C (p.Arg31906Ser)
c.95637A>C (p.Arg31879Ser)
c.77400A>C (p.Arg25800Ser)
c.67254A>C (p.Arg22418Ser)
2g.178532110T=CA1310518083TTN,TTN-AS1c.96801A= (p.Arg32267=)
c.77886A= (p.Arg25962=)
c.77685A= (p.Arg25895=)
c.77310A= (p.Arg25770=)
c.104505A= (p.Arg34835=)
c.99582A= (p.Arg33194=)
n.446+8474T=
n.220-3622T=
c.103602A= (p.Arg34534=)
c.77496A= (p.Arg25832=)
c.77355A= (p.Arg25785=)
c.103398A= (p.Arg34466=)
c.98796A= (p.Arg32932=)
c.98793A= (p.Arg32931=)
c.95835A= (p.Arg31945=)
c.77451A= (p.Arg25817=)
c.98946A= (p.Arg32982=)
c.98943A= (p.Arg32981=)
c.98376A= (p.Arg32792=)
c.95718A= (p.Arg31906=)
c.95637A= (p.Arg31879=)
c.77400A= (p.Arg25800=)
c.67254A= (p.Arg22418=)
2g.178532111C>ACA349411525TTN,TTN-AS1c.96800G>T (p.Arg32267Ile)
c.77885G>T (p.Arg25962Ile)
c.77684G>T (p.Arg25895Ile)
c.77309G>T (p.Arg25770Ile)
c.104504G>T (p.Arg34835Ile)
c.99581G>T (p.Arg33194Ile)
n.446+8475C>A
n.220-3621C>A
c.103601G>T (p.Arg34534Ile)
c.77495G>T (p.Arg25832Ile)
c.77354G>T (p.Arg25785Ile)
c.103397G>T (p.Arg34466Ile)
c.98795G>T (p.Arg32932Ile)
c.98792G>T (p.Arg32931Ile)
c.95834G>T (p.Arg31945Ile)
c.77450G>T (p.Arg25817Ile)
c.98945G>T (p.Arg32982Ile)
c.98942G>T (p.Arg32981Ile)
c.98375G>T (p.Arg32792Ile)
c.95717G>T (p.Arg31906Ile)
c.95636G>T (p.Arg31879Ile)
c.77399G>T (p.Arg25800Ile)
c.67253G>T (p.Arg22418Ile)
2g.178532111C>GCA349411526TTN,TTN-AS1c.96800G>C (p.Arg32267Thr)
c.77885G>C (p.Arg25962Thr)
c.77684G>C (p.Arg25895Thr)
c.77309G>C (p.Arg25770Thr)
c.104504G>C (p.Arg34835Thr)
c.99581G>C (p.Arg33194Thr)
n.446+8475C>G
n.220-3621C>G
c.103601G>C (p.Arg34534Thr)
c.77495G>C (p.Arg25832Thr)
c.77354G>C (p.Arg25785Thr)
c.103397G>C (p.Arg34466Thr)
c.98795G>C (p.Arg32932Thr)
c.98792G>C (p.Arg32931Thr)
c.95834G>C (p.Arg31945Thr)
c.77450G>C (p.Arg25817Thr)
c.98945G>C (p.Arg32982Thr)
c.98942G>C (p.Arg32981Thr)
c.98375G>C (p.Arg32792Thr)
c.95717G>C (p.Arg31906Thr)
c.95636G>C (p.Arg31879Thr)
c.77399G>C (p.Arg25800Thr)
c.67253G>C (p.Arg22418Thr)
 ClinVar dbSNP
2g.178532111C>TCA349411528TTN,TTN-AS1c.96800G>A (p.Arg32267Lys)
c.77885G>A (p.Arg25962Lys)
c.77684G>A (p.Arg25895Lys)
c.77309G>A (p.Arg25770Lys)
c.104504G>A (p.Arg34835Lys)
c.99581G>A (p.Arg33194Lys)
n.446+8475C>T
n.220-3621C>T
c.103601G>A (p.Arg34534Lys)
c.77495G>A (p.Arg25832Lys)
c.77354G>A (p.Arg25785Lys)
c.103397G>A (p.Arg34466Lys)
c.98795G>A (p.Arg32932Lys)
c.98792G>A (p.Arg32931Lys)
c.95834G>A (p.Arg31945Lys)
c.77450G>A (p.Arg25817Lys)
c.98945G>A (p.Arg32982Lys)
c.98942G>A (p.Arg32981Lys)
c.98375G>A (p.Arg32792Lys)
c.95717G>A (p.Arg31906Lys)
c.95636G>A (p.Arg31879Lys)
c.77399G>A (p.Arg25800Lys)
c.67253G>A (p.Arg22418Lys)
2g.178532112T>ACA349411531TTN,TTN-AS1c.96799A>T (p.Arg32267Ter)
c.77884A>T (p.Arg25962Ter)
c.77683A>T (p.Arg25895Ter)
c.77308A>T (p.Arg25770Ter)
c.104503A>T (p.Arg34835Ter)
c.99580A>T (p.Arg33194Ter)
n.446+8476T>A
n.220-3620T>A
c.103600A>T (p.Arg34534Ter)
c.77494A>T (p.Arg25832Ter)
c.77353A>T (p.Arg25785Ter)
c.103396A>T (p.Arg34466Ter)
c.98794A>T (p.Arg32932Ter)
c.98791A>T (p.Arg32931Ter)
c.95833A>T (p.Arg31945Ter)
c.77449A>T (p.Arg25817Ter)
c.98944A>T (p.Arg32982Ter)
c.98941A>T (p.Arg32981Ter)
c.98374A>T (p.Arg32792Ter)
c.95716A>T (p.Arg31906Ter)
c.95635A>T (p.Arg31879Ter)
c.77398A>T (p.Arg25800Ter)
c.67252A>T (p.Arg22418Ter)
2g.178532112T>CCA60956164TTN,TTN-AS1c.96799A>G (p.Arg32267Gly)
c.77884A>G (p.Arg25962Gly)
c.77683A>G (p.Arg25895Gly)
c.77308A>G (p.Arg25770Gly)
c.104503A>G (p.Arg34835Gly)
c.99580A>G (p.Arg33194Gly)
n.446+8476T>C
n.220-3620T>C
c.103600A>G (p.Arg34534Gly)
c.77494A>G (p.Arg25832Gly)
c.77353A>G (p.Arg25785Gly)
c.103396A>G (p.Arg34466Gly)
c.98794A>G (p.Arg32932Gly)
c.98791A>G (p.Arg32931Gly)
c.95833A>G (p.Arg31945Gly)
c.77449A>G (p.Arg25817Gly)
c.98944A>G (p.Arg32982Gly)
c.98941A>G (p.Arg32981Gly)
c.98374A>G (p.Arg32792Gly)
c.95716A>G (p.Arg31906Gly)
c.95635A>G (p.Arg31879Gly)
c.77398A>G (p.Arg25800Gly)
c.67252A>G (p.Arg22418Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178532112T>GCA430235873TTN,TTN-AS1c.96799A>C (p.Arg32267=)
c.77884A>C (p.Arg25962=)
c.77683A>C (p.Arg25895=)
c.77308A>C (p.Arg25770=)
c.104503A>C (p.Arg34835=)
c.99580A>C (p.Arg33194=)
n.446+8476T>G
n.220-3620T>G
c.103600A>C (p.Arg34534=)
c.77494A>C (p.Arg25832=)
c.77353A>C (p.Arg25785=)
c.103396A>C (p.Arg34466=)
c.98794A>C (p.Arg32932=)
c.98791A>C (p.Arg32931=)
c.95833A>C (p.Arg31945=)
c.77449A>C (p.Arg25817=)
c.98944A>C (p.Arg32982=)
c.98941A>C (p.Arg32981=)
c.98374A>C (p.Arg32792=)
c.95716A>C (p.Arg31906=)
c.95635A>C (p.Arg31879=)
c.77398A>C (p.Arg25800=)
c.67252A>C (p.Arg22418=)
2g.178532112T=CA1310518084TTN,TTN-AS1c.96799A= (p.Arg32267=)
c.77884A= (p.Arg25962=)
c.77683A= (p.Arg25895=)
c.77308A= (p.Arg25770=)
c.104503A= (p.Arg34835=)
c.99580A= (p.Arg33194=)
n.446+8476T=
n.220-3620T=
c.103600A= (p.Arg34534=)
c.77494A= (p.Arg25832=)
c.77353A= (p.Arg25785=)
c.103396A= (p.Arg34466=)
c.98794A= (p.Arg32932=)
c.98791A= (p.Arg32931=)
c.95833A= (p.Arg31945=)
c.77449A= (p.Arg25817=)
c.98944A= (p.Arg32982=)
c.98941A= (p.Arg32981=)
c.98374A= (p.Arg32792=)
c.95716A= (p.Arg31906=)
c.95635A= (p.Arg31879=)
c.77398A= (p.Arg25800=)
c.67252A= (p.Arg22418=)
2g.178532113A>CCA430235874TTN,TTN-AS1c.96798T>G (p.Ser32266=)
c.77883T>G (p.Ser25961=)
c.77682T>G (p.Ser25894=)
c.77307T>G (p.Ser25769=)
c.104502T>G (p.Ser34834=)
c.99579T>G (p.Ser33193=)
n.446+8477A>C
n.220-3619A>C
c.103599T>G (p.Ser34533=)
c.77493T>G (p.Ser25831=)
c.77352T>G (p.Ser25784=)
c.103395T>G (p.Ser34465=)
c.98793T>G (p.Ser32931=)
c.98790T>G (p.Ser32930=)
c.95832T>G (p.Ser31944=)
c.77448T>G (p.Ser25816=)
c.98943T>G (p.Ser32981=)
c.98940T>G (p.Ser32980=)
c.98373T>G (p.Ser32791=)
c.95715T>G (p.Ser31905=)
c.95634T>G (p.Ser31878=)
c.77397T>G (p.Ser25799=)
c.67251T>G (p.Ser22417=)
2g.178532113A>GCA430235875TTN,TTN-AS1c.96798T>C (p.Ser32266=)
c.77883T>C (p.Ser25961=)
c.77682T>C (p.Ser25894=)
c.77307T>C (p.Ser25769=)
c.104502T>C (p.Ser34834=)
c.99579T>C (p.Ser33193=)
n.446+8477A>G
n.220-3619A>G
c.103599T>C (p.Ser34533=)
c.77493T>C (p.Ser25831=)
c.77352T>C (p.Ser25784=)
c.103395T>C (p.Ser34465=)
c.98793T>C (p.Ser32931=)
c.98790T>C (p.Ser32930=)
c.95832T>C (p.Ser31944=)
c.77448T>C (p.Ser25816=)
c.98943T>C (p.Ser32981=)
c.98940T>C (p.Ser32980=)
c.98373T>C (p.Ser32791=)
c.95715T>C (p.Ser31905=)
c.95634T>C (p.Ser31878=)
c.77397T>C (p.Ser25799=)
c.67251T>C (p.Ser22417=)
 dbSNP gnomAD v4
2g.178532113A>TCA430235876TTN,TTN-AS1c.96798T>A (p.Ser32266=)
c.77883T>A (p.Ser25961=)
c.77682T>A (p.Ser25894=)
c.77307T>A (p.Ser25769=)
c.104502T>A (p.Ser34834=)
c.99579T>A (p.Ser33193=)
n.446+8477A>T
n.220-3619A>T
c.103599T>A (p.Ser34533=)
c.77493T>A (p.Ser25831=)
c.77352T>A (p.Ser25784=)
c.103395T>A (p.Ser34465=)
c.98793T>A (p.Ser32931=)
c.98790T>A (p.Ser32930=)
c.95832T>A (p.Ser31944=)
c.77448T>A (p.Ser25816=)
c.98943T>A (p.Ser32981=)
c.98940T>A (p.Ser32980=)
c.98373T>A (p.Ser32791=)
c.95715T>A (p.Ser31905=)
c.95634T>A (p.Ser31878=)
c.77397T>A (p.Ser25799=)
c.67251T>A (p.Ser22417=)
2g.178532114G>ACA349411533TTN,TTN-AS1c.96797C>T (p.Ser32266Phe)
c.77882C>T (p.Ser25961Phe)
c.77681C>T (p.Ser25894Phe)
c.77306C>T (p.Ser25769Phe)
c.104501C>T (p.Ser34834Phe)
c.99578C>T (p.Ser33193Phe)
n.446+8478G>A
n.220-3618G>A
c.103598C>T (p.Ser34533Phe)
c.77492C>T (p.Ser25831Phe)
c.77351C>T (p.Ser25784Phe)
c.103394C>T (p.Ser34465Phe)
c.98792C>T (p.Ser32931Phe)
c.98789C>T (p.Ser32930Phe)
c.95831C>T (p.Ser31944Phe)
c.77447C>T (p.Ser25816Phe)
c.98942C>T (p.Ser32981Phe)
c.98939C>T (p.Ser32980Phe)
c.98372C>T (p.Ser32791Phe)
c.95714C>T (p.Ser31905Phe)
c.95633C>T (p.Ser31878Phe)
c.77396C>T (p.Ser25799Phe)
c.67250C>T (p.Ser22417Phe)
2g.178532114G>CCA1985415TTN,TTN-AS1c.96797C>G (p.Ser32266Cys)
c.77882C>G (p.Ser25961Cys)
c.77681C>G (p.Ser25894Cys)
c.77306C>G (p.Ser25769Cys)
c.104501C>G (p.Ser34834Cys)
c.99578C>G (p.Ser33193Cys)
n.446+8478G>C
n.220-3618G>C
c.103598C>G (p.Ser34533Cys)
c.77492C>G (p.Ser25831Cys)
c.77351C>G (p.Ser25784Cys)
c.103394C>G (p.Ser34465Cys)
c.98792C>G (p.Ser32931Cys)
c.98789C>G (p.Ser32930Cys)
c.95831C>G (p.Ser31944Cys)
c.77447C>G (p.Ser25816Cys)
c.98942C>G (p.Ser32981Cys)
c.98939C>G (p.Ser32980Cys)
c.98372C>G (p.Ser32791Cys)
c.95714C>G (p.Ser31905Cys)
c.95633C>G (p.Ser31878Cys)
c.77396C>G (p.Ser25799Cys)
c.67250C>G (p.Ser22417Cys)
 ClinVar dbSNP ExAC gnomAD v2
2g.178532114G=CA1310518085TTN,TTN-AS1c.96797C= (p.Ser32266=)
c.77882C= (p.Ser25961=)
c.77681C= (p.Ser25894=)
c.77306C= (p.Ser25769=)
c.104501C= (p.Ser34834=)
c.99578C= (p.Ser33193=)
n.446+8478G=
n.220-3618G=
c.103598C= (p.Ser34533=)
c.77492C= (p.Ser25831=)
c.77351C= (p.Ser25784=)
c.103394C= (p.Ser34465=)
c.98792C= (p.Ser32931=)
c.98789C= (p.Ser32930=)
c.95831C= (p.Ser31944=)
c.77447C= (p.Ser25816=)
c.98942C= (p.Ser32981=)
c.98939C= (p.Ser32980=)
c.98372C= (p.Ser32791=)
c.95714C= (p.Ser31905=)
c.95633C= (p.Ser31878=)
c.77396C= (p.Ser25799=)
c.67250C= (p.Ser22417=)
2g.178532114G>TCA349411534TTN,TTN-AS1c.96797C>A (p.Ser32266Tyr)
c.77882C>A (p.Ser25961Tyr)
c.77681C>A (p.Ser25894Tyr)
c.77306C>A (p.Ser25769Tyr)
c.104501C>A (p.Ser34834Tyr)
c.99578C>A (p.Ser33193Tyr)
n.446+8478G>T
n.220-3618G>T
c.103598C>A (p.Ser34533Tyr)
c.77492C>A (p.Ser25831Tyr)
c.77351C>A (p.Ser25784Tyr)
c.103394C>A (p.Ser34465Tyr)
c.98792C>A (p.Ser32931Tyr)
c.98789C>A (p.Ser32930Tyr)
c.95831C>A (p.Ser31944Tyr)
c.77447C>A (p.Ser25816Tyr)
c.98942C>A (p.Ser32981Tyr)
c.98939C>A (p.Ser32980Tyr)
c.98372C>A (p.Ser32791Tyr)
c.95714C>A (p.Ser31905Tyr)
c.95633C>A (p.Ser31878Tyr)
c.77396C>A (p.Ser25799Tyr)
c.67250C>A (p.Ser22417Tyr)
2g.178532115A>CCA349411536TTN,TTN-AS1c.96796T>G (p.Ser32266Ala)
c.77881T>G (p.Ser25961Ala)
c.77680T>G (p.Ser25894Ala)
c.77305T>G (p.Ser25769Ala)
c.104500T>G (p.Ser34834Ala)
c.99577T>G (p.Ser33193Ala)
n.446+8479A>C
n.220-3617A>C
c.103597T>G (p.Ser34533Ala)
c.77491T>G (p.Ser25831Ala)
c.77350T>G (p.Ser25784Ala)
c.103393T>G (p.Ser34465Ala)
c.98791T>G (p.Ser32931Ala)
c.98788T>G (p.Ser32930Ala)
c.95830T>G (p.Ser31944Ala)
c.77446T>G (p.Ser25816Ala)
c.98941T>G (p.Ser32981Ala)
c.98938T>G (p.Ser32980Ala)
c.98371T>G (p.Ser32791Ala)
c.95713T>G (p.Ser31905Ala)
c.95632T>G (p.Ser31878Ala)
c.77395T>G (p.Ser25799Ala)
c.67249T>G (p.Ser22417Ala)
2g.178532115A>GCA349411538TTN,TTN-AS1c.96796T>C (p.Ser32266Pro)
c.77881T>C (p.Ser25961Pro)
c.77680T>C (p.Ser25894Pro)
c.77305T>C (p.Ser25769Pro)
c.104500T>C (p.Ser34834Pro)
c.99577T>C (p.Ser33193Pro)
n.446+8479A>G
n.220-3617A>G
c.103597T>C (p.Ser34533Pro)
c.77491T>C (p.Ser25831Pro)
c.77350T>C (p.Ser25784Pro)
c.103393T>C (p.Ser34465Pro)
c.98791T>C (p.Ser32931Pro)
c.98788T>C (p.Ser32930Pro)
c.95830T>C (p.Ser31944Pro)
c.77446T>C (p.Ser25816Pro)
c.98941T>C (p.Ser32981Pro)
c.98938T>C (p.Ser32980Pro)
c.98371T>C (p.Ser32791Pro)
c.95713T>C (p.Ser31905Pro)
c.95632T>C (p.Ser31878Pro)
c.77395T>C (p.Ser25799Pro)
c.67249T>C (p.Ser22417Pro)
2g.178532115A>TCA349411540TTN,TTN-AS1c.96796T>A (p.Ser32266Thr)
c.77881T>A (p.Ser25961Thr)
c.77680T>A (p.Ser25894Thr)
c.77305T>A (p.Ser25769Thr)
c.104500T>A (p.Ser34834Thr)
c.99577T>A (p.Ser33193Thr)
n.446+8479A>T
n.220-3617A>T
c.103597T>A (p.Ser34533Thr)
c.77491T>A (p.Ser25831Thr)
c.77350T>A (p.Ser25784Thr)
c.103393T>A (p.Ser34465Thr)
c.98791T>A (p.Ser32931Thr)
c.98788T>A (p.Ser32930Thr)
c.95830T>A (p.Ser31944Thr)
c.77446T>A (p.Ser25816Thr)
c.98941T>A (p.Ser32981Thr)
c.98938T>A (p.Ser32980Thr)
c.98371T>A (p.Ser32791Thr)
c.95713T>A (p.Ser31905Thr)
c.95632T>A (p.Ser31878Thr)
c.77395T>A (p.Ser25799Thr)
c.67249T>A (p.Ser22417Thr)
2g.178532116C>ACA430235877TTN,TTN-AS1c.96795G>T (p.Ala32265=)
c.77880G>T (p.Ala25960=)
c.77679G>T (p.Ala25893=)
c.77304G>T (p.Ala25768=)
c.104499G>T (p.Ala34833=)
c.99576G>T (p.Ala33192=)
n.446+8480C>A
n.220-3616C>A
c.103596G>T (p.Ala34532=)
c.77490G>T (p.Ala25830=)
c.77349G>T (p.Ala25783=)
c.103392G>T (p.Ala34464=)
c.98790G>T (p.Ala32930=)
c.98787G>T (p.Ala32929=)
c.95829G>T (p.Ala31943=)
c.77445G>T (p.Ala25815=)
c.98940G>T (p.Ala32980=)
c.98937G>T (p.Ala32979=)
c.98370G>T (p.Ala32790=)
c.95712G>T (p.Ala31904=)
c.95631G>T (p.Ala31877=)
c.77394G>T (p.Ala25798=)
c.67248G>T (p.Ala22416=)
2g.178532116C=CA1310518086TTN,TTN-AS1c.96795G= (p.Ala32265=)
c.77880G= (p.Ala25960=)
c.77679G= (p.Ala25893=)
c.77304G= (p.Ala25768=)
c.104499G= (p.Ala34833=)
c.99576G= (p.Ala33192=)
n.446+8480C=
n.220-3616C=
c.103596G= (p.Ala34532=)
c.77490G= (p.Ala25830=)
c.77349G= (p.Ala25783=)
c.103392G= (p.Ala34464=)
c.98790G= (p.Ala32930=)
c.98787G= (p.Ala32929=)
c.95829G= (p.Ala31943=)
c.77445G= (p.Ala25815=)
c.98940G= (p.Ala32980=)
c.98937G= (p.Ala32979=)
c.98370G= (p.Ala32790=)
c.95712G= (p.Ala31904=)
c.95631G= (p.Ala31877=)
c.77394G= (p.Ala25798=)
c.67248G= (p.Ala22416=)
2g.178532116C>GCA430235878TTN,TTN-AS1c.96795G>C (p.Ala32265=)
c.77880G>C (p.Ala25960=)
c.77679G>C (p.Ala25893=)
c.77304G>C (p.Ala25768=)
c.104499G>C (p.Ala34833=)
c.99576G>C (p.Ala33192=)
n.446+8480C>G
n.220-3616C>G
c.103596G>C (p.Ala34532=)
c.77490G>C (p.Ala25830=)
c.77349G>C (p.Ala25783=)
c.103392G>C (p.Ala34464=)
c.98790G>C (p.Ala32930=)
c.98787G>C (p.Ala32929=)
c.95829G>C (p.Ala31943=)
c.77445G>C (p.Ala25815=)
c.98940G>C (p.Ala32980=)
c.98937G>C (p.Ala32979=)
c.98370G>C (p.Ala32790=)
c.95712G>C (p.Ala31904=)
c.95631G>C (p.Ala31877=)
c.77394G>C (p.Ala25798=)
c.67248G>C (p.Ala22416=)
2g.178532116C>TCA1985416TTN,TTN-AS1c.96795G>A (p.Ala32265=)
c.77880G>A (p.Ala25960=)
c.77679G>A (p.Ala25893=)
c.77304G>A (p.Ala25768=)
c.104499G>A (p.Ala34833=)
c.99576G>A (p.Ala33192=)
n.446+8480C>T
n.220-3616C>T
c.103596G>A (p.Ala34532=)
c.77490G>A (p.Ala25830=)
c.77349G>A (p.Ala25783=)
c.103392G>A (p.Ala34464=)
c.98790G>A (p.Ala32930=)
c.98787G>A (p.Ala32929=)
c.95829G>A (p.Ala31943=)
c.77445G>A (p.Ala25815=)
c.98940G>A (p.Ala32980=)
c.98937G>A (p.Ala32979=)
c.98370G>A (p.Ala32790=)
c.95712G>A (p.Ala31904=)
c.95631G>A (p.Ala31877=)
c.77394G>A (p.Ala25798=)
c.67248G>A (p.Ala22416=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532117G>ACA349411541TTN,TTN-AS1c.96794C>T (p.Ala32265Val)
c.77879C>T (p.Ala25960Val)
c.77678C>T (p.Ala25893Val)
c.77303C>T (p.Ala25768Val)
c.104498C>T (p.Ala34833Val)
c.99575C>T (p.Ala33192Val)
n.446+8481G>A
n.220-3615G>A
c.103595C>T (p.Ala34532Val)
c.77489C>T (p.Ala25830Val)
c.77348C>T (p.Ala25783Val)
c.103391C>T (p.Ala34464Val)
c.98789C>T (p.Ala32930Val)
c.98786C>T (p.Ala32929Val)
c.95828C>T (p.Ala31943Val)
c.77444C>T (p.Ala25815Val)
c.98939C>T (p.Ala32980Val)
c.98936C>T (p.Ala32979Val)
c.98369C>T (p.Ala32790Val)
c.95711C>T (p.Ala31904Val)
c.95630C>T (p.Ala31877Val)
c.77393C>T (p.Ala25798Val)
c.67247C>T (p.Ala22416Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178532117G>CCA349411542TTN,TTN-AS1c.96794C>G (p.Ala32265Gly)
c.77879C>G (p.Ala25960Gly)
c.77678C>G (p.Ala25893Gly)
c.77303C>G (p.Ala25768Gly)
c.104498C>G (p.Ala34833Gly)
c.99575C>G (p.Ala33192Gly)
n.446+8481G>C
n.220-3615G>C
c.103595C>G (p.Ala34532Gly)
c.77489C>G (p.Ala25830Gly)
c.77348C>G (p.Ala25783Gly)
c.103391C>G (p.Ala34464Gly)
c.98789C>G (p.Ala32930Gly)
c.98786C>G (p.Ala32929Gly)
c.95828C>G (p.Ala31943Gly)
c.77444C>G (p.Ala25815Gly)
c.98939C>G (p.Ala32980Gly)
c.98936C>G (p.Ala32979Gly)
c.98369C>G (p.Ala32790Gly)
c.95711C>G (p.Ala31904Gly)
c.95630C>G (p.Ala31877Gly)
c.77393C>G (p.Ala25798Gly)
c.67247C>G (p.Ala22416Gly)
 ClinVar
2g.178532117G=CA1310518087TTN,TTN-AS1c.96794C= (p.Ala32265=)
c.77879C= (p.Ala25960=)
c.77678C= (p.Ala25893=)
c.77303C= (p.Ala25768=)
c.104498C= (p.Ala34833=)
c.99575C= (p.Ala33192=)
n.446+8481G=
n.220-3615G=
c.103595C= (p.Ala34532=)
c.77489C= (p.Ala25830=)
c.77348C= (p.Ala25783=)
c.103391C= (p.Ala34464=)
c.98789C= (p.Ala32930=)
c.98786C= (p.Ala32929=)
c.95828C= (p.Ala31943=)
c.77444C= (p.Ala25815=)
c.98939C= (p.Ala32980=)
c.98936C= (p.Ala32979=)
c.98369C= (p.Ala32790=)
c.95711C= (p.Ala31904=)
c.95630C= (p.Ala31877=)
c.77393C= (p.Ala25798=)
c.67247C= (p.Ala22416=)
2g.178532117G>TCA349411543TTN,TTN-AS1c.96794C>A (p.Ala32265Glu)
c.77879C>A (p.Ala25960Glu)
c.77678C>A (p.Ala25893Glu)
c.77303C>A (p.Ala25768Glu)
c.104498C>A (p.Ala34833Glu)
c.99575C>A (p.Ala33192Glu)
n.446+8481G>T
n.220-3615G>T
c.103595C>A (p.Ala34532Glu)
c.77489C>A (p.Ala25830Glu)
c.77348C>A (p.Ala25783Glu)
c.103391C>A (p.Ala34464Glu)
c.98789C>A (p.Ala32930Glu)
c.98786C>A (p.Ala32929Glu)
c.95828C>A (p.Ala31943Glu)
c.77444C>A (p.Ala25815Glu)
c.98939C>A (p.Ala32980Glu)
c.98936C>A (p.Ala32979Glu)
c.98369C>A (p.Ala32790Glu)
c.95711C>A (p.Ala31904Glu)
c.95630C>A (p.Ala31877Glu)
c.77393C>A (p.Ala25798Glu)
c.67247C>A (p.Ala22416Glu)
2g.178532118C>ACA349411546TTN,TTN-AS1c.96793G>T (p.Ala32265Ser)
c.77878G>T (p.Ala25960Ser)
c.77677G>T (p.Ala25893Ser)
c.77302G>T (p.Ala25768Ser)
c.104497G>T (p.Ala34833Ser)
c.99574G>T (p.Ala33192Ser)
n.446+8482C>A
n.220-3614C>A
c.103594G>T (p.Ala34532Ser)
c.77488G>T (p.Ala25830Ser)
c.77347G>T (p.Ala25783Ser)
c.103390G>T (p.Ala34464Ser)
c.98788G>T (p.Ala32930Ser)
c.98785G>T (p.Ala32929Ser)
c.95827G>T (p.Ala31943Ser)
c.77443G>T (p.Ala25815Ser)
c.98938G>T (p.Ala32980Ser)
c.98935G>T (p.Ala32979Ser)
c.98368G>T (p.Ala32790Ser)
c.95710G>T (p.Ala31904Ser)
c.95629G>T (p.Ala31877Ser)
c.77392G>T (p.Ala25798Ser)
c.67246G>T (p.Ala22416Ser)
2g.178532118C>GCA349411547TTN,TTN-AS1c.96793G>C (p.Ala32265Pro)
c.77878G>C (p.Ala25960Pro)
c.77677G>C (p.Ala25893Pro)
c.77302G>C (p.Ala25768Pro)
c.104497G>C (p.Ala34833Pro)
c.99574G>C (p.Ala33192Pro)
n.446+8482C>G
n.220-3614C>G
c.103594G>C (p.Ala34532Pro)
c.77488G>C (p.Ala25830Pro)
c.77347G>C (p.Ala25783Pro)
c.103390G>C (p.Ala34464Pro)
c.98788G>C (p.Ala32930Pro)
c.98785G>C (p.Ala32929Pro)
c.95827G>C (p.Ala31943Pro)
c.77443G>C (p.Ala25815Pro)
c.98938G>C (p.Ala32980Pro)
c.98935G>C (p.Ala32979Pro)
c.98368G>C (p.Ala32790Pro)
c.95710G>C (p.Ala31904Pro)
c.95629G>C (p.Ala31877Pro)
c.77392G>C (p.Ala25798Pro)
c.67246G>C (p.Ala22416Pro)
 gnomAD v4
2g.178532118C>TCA349411549TTN,TTN-AS1c.96793G>A (p.Ala32265Thr)
c.77878G>A (p.Ala25960Thr)
c.77677G>A (p.Ala25893Thr)
c.77302G>A (p.Ala25768Thr)
c.104497G>A (p.Ala34833Thr)
c.99574G>A (p.Ala33192Thr)
n.446+8482C>T
n.220-3614C>T
c.103594G>A (p.Ala34532Thr)
c.77488G>A (p.Ala25830Thr)
c.77347G>A (p.Ala25783Thr)
c.103390G>A (p.Ala34464Thr)
c.98788G>A (p.Ala32930Thr)
c.98785G>A (p.Ala32929Thr)
c.95827G>A (p.Ala31943Thr)
c.77443G>A (p.Ala25815Thr)
c.98938G>A (p.Ala32980Thr)
c.98935G>A (p.Ala32979Thr)
c.98368G>A (p.Ala32790Thr)
c.95710G>A (p.Ala31904Thr)
c.95629G>A (p.Ala31877Thr)
c.77392G>A (p.Ala25798Thr)
c.67246G>A (p.Ala22416Thr)
 gnomAD v4
2g.178532119A>CCA430235879TTN,TTN-AS1c.96792T>G (p.Ser32264=)
c.77877T>G (p.Ser25959=)
c.77676T>G (p.Ser25892=)
c.77301T>G (p.Ser25767=)
c.104496T>G (p.Ser34832=)
c.99573T>G (p.Ser33191=)
n.446+8483A>C
n.220-3613A>C
c.103593T>G (p.Ser34531=)
c.77487T>G (p.Ser25829=)
c.77346T>G (p.Ser25782=)
c.103389T>G (p.Ser34463=)
c.98787T>G (p.Ser32929=)
c.98784T>G (p.Ser32928=)
c.95826T>G (p.Ser31942=)
c.77442T>G (p.Ser25814=)
c.98937T>G (p.Ser32979=)
c.98934T>G (p.Ser32978=)
c.98367T>G (p.Ser32789=)
c.95709T>G (p.Ser31903=)
c.95628T>G (p.Ser31876=)
c.77391T>G (p.Ser25797=)
c.67245T>G (p.Ser22415=)
2g.178532119A>GCA430235881TTN,TTN-AS1c.96792T>C (p.Ser32264=)
c.77877T>C (p.Ser25959=)
c.77676T>C (p.Ser25892=)
c.77301T>C (p.Ser25767=)
c.104496T>C (p.Ser34832=)
c.99573T>C (p.Ser33191=)
n.446+8483A>G
n.220-3613A>G
c.103593T>C (p.Ser34531=)
c.77487T>C (p.Ser25829=)
c.77346T>C (p.Ser25782=)
c.103389T>C (p.Ser34463=)
c.98787T>C (p.Ser32929=)
c.98784T>C (p.Ser32928=)
c.95826T>C (p.Ser31942=)
c.77442T>C (p.Ser25814=)
c.98937T>C (p.Ser32979=)
c.98934T>C (p.Ser32978=)
c.98367T>C (p.Ser32789=)
c.95709T>C (p.Ser31903=)
c.95628T>C (p.Ser31876=)
c.77391T>C (p.Ser25797=)
c.67245T>C (p.Ser22415=)
 gnomAD v4
2g.178532119A>TCA430235880TTN,TTN-AS1c.96792T>A (p.Ser32264=)
c.77877T>A (p.Ser25959=)
c.77676T>A (p.Ser25892=)
c.77301T>A (p.Ser25767=)
c.104496T>A (p.Ser34832=)
c.99573T>A (p.Ser33191=)
n.446+8483A>T
n.220-3613A>T
c.103593T>A (p.Ser34531=)
c.77487T>A (p.Ser25829=)
c.77346T>A (p.Ser25782=)
c.103389T>A (p.Ser34463=)
c.98787T>A (p.Ser32929=)
c.98784T>A (p.Ser32928=)
c.95826T>A (p.Ser31942=)
c.77442T>A (p.Ser25814=)
c.98937T>A (p.Ser32979=)
c.98934T>A (p.Ser32978=)
c.98367T>A (p.Ser32789=)
c.95709T>A (p.Ser31903=)
c.95628T>A (p.Ser31876=)
c.77391T>A (p.Ser25797=)
c.67245T>A (p.Ser22415=)
2g.178532120G>ACA349411551TTN,TTN-AS1c.96791C>T (p.Ser32264Phe)
c.77876C>T (p.Ser25959Phe)
c.77675C>T (p.Ser25892Phe)
c.77300C>T (p.Ser25767Phe)
c.104495C>T (p.Ser34832Phe)
c.99572C>T (p.Ser33191Phe)
n.446+8484G>A
n.220-3612G>A
c.103592C>T (p.Ser34531Phe)
c.77486C>T (p.Ser25829Phe)
c.77345C>T (p.Ser25782Phe)
c.103388C>T (p.Ser34463Phe)
c.98786C>T (p.Ser32929Phe)
c.98783C>T (p.Ser32928Phe)
c.95825C>T (p.Ser31942Phe)
c.77441C>T (p.Ser25814Phe)
c.98936C>T (p.Ser32979Phe)
c.98933C>T (p.Ser32978Phe)
c.98366C>T (p.Ser32789Phe)
c.95708C>T (p.Ser31903Phe)
c.95627C>T (p.Ser31876Phe)
c.77390C>T (p.Ser25797Phe)
c.67244C>T (p.Ser22415Phe)
2g.178532120G>CCA349411553TTN,TTN-AS1c.96791C>G (p.Ser32264Cys)
c.77876C>G (p.Ser25959Cys)
c.77675C>G (p.Ser25892Cys)
c.77300C>G (p.Ser25767Cys)
c.104495C>G (p.Ser34832Cys)
c.99572C>G (p.Ser33191Cys)
n.446+8484G>C
n.220-3612G>C
c.103592C>G (p.Ser34531Cys)
c.77486C>G (p.Ser25829Cys)
c.77345C>G (p.Ser25782Cys)
c.103388C>G (p.Ser34463Cys)
c.98786C>G (p.Ser32929Cys)
c.98783C>G (p.Ser32928Cys)
c.95825C>G (p.Ser31942Cys)
c.77441C>G (p.Ser25814Cys)
c.98936C>G (p.Ser32979Cys)
c.98933C>G (p.Ser32978Cys)
c.98366C>G (p.Ser32789Cys)
c.95708C>G (p.Ser31903Cys)
c.95627C>G (p.Ser31876Cys)
c.77390C>G (p.Ser25797Cys)
c.67244C>G (p.Ser22415Cys)
 dbSNP gnomAD v4
2g.178532120G=CA1310518088TTN,TTN-AS1c.96791C= (p.Ser32264=)
c.77876C= (p.Ser25959=)
c.77675C= (p.Ser25892=)
c.77300C= (p.Ser25767=)
c.104495C= (p.Ser34832=)
c.99572C= (p.Ser33191=)
n.446+8484G=
n.220-3612G=
c.103592C= (p.Ser34531=)
c.77486C= (p.Ser25829=)
c.77345C= (p.Ser25782=)
c.103388C= (p.Ser34463=)
c.98786C= (p.Ser32929=)
c.98783C= (p.Ser32928=)
c.95825C= (p.Ser31942=)
c.77441C= (p.Ser25814=)
c.98936C= (p.Ser32979=)
c.98933C= (p.Ser32978=)
c.98366C= (p.Ser32789=)
c.95708C= (p.Ser31903=)
c.95627C= (p.Ser31876=)
c.77390C= (p.Ser25797=)
c.67244C= (p.Ser22415=)
2g.178532120G>TCA349411554TTN,TTN-AS1c.96791C>A (p.Ser32264Tyr)
c.77876C>A (p.Ser25959Tyr)
c.77675C>A (p.Ser25892Tyr)
c.77300C>A (p.Ser25767Tyr)
c.104495C>A (p.Ser34832Tyr)
c.99572C>A (p.Ser33191Tyr)
n.446+8484G>T
n.220-3612G>T
c.103592C>A (p.Ser34531Tyr)
c.77486C>A (p.Ser25829Tyr)
c.77345C>A (p.Ser25782Tyr)
c.103388C>A (p.Ser34463Tyr)
c.98786C>A (p.Ser32929Tyr)
c.98783C>A (p.Ser32928Tyr)
c.95825C>A (p.Ser31942Tyr)
c.77441C>A (p.Ser25814Tyr)
c.98936C>A (p.Ser32979Tyr)
c.98933C>A (p.Ser32978Tyr)
c.98366C>A (p.Ser32789Tyr)
c.95708C>A (p.Ser31903Tyr)
c.95627C>A (p.Ser31876Tyr)
c.77390C>A (p.Ser25797Tyr)
c.67244C>A (p.Ser22415Tyr)
2g.178532121A>CCA349411557TTN,TTN-AS1c.96790T>G (p.Ser32264Ala)
c.77875T>G (p.Ser25959Ala)
c.77674T>G (p.Ser25892Ala)
c.77299T>G (p.Ser25767Ala)
c.104494T>G (p.Ser34832Ala)
c.99571T>G (p.Ser33191Ala)
n.446+8485A>C
n.220-3611A>C
c.103591T>G (p.Ser34531Ala)
c.77485T>G (p.Ser25829Ala)
c.77344T>G (p.Ser25782Ala)
c.103387T>G (p.Ser34463Ala)
c.98785T>G (p.Ser32929Ala)
c.98782T>G (p.Ser32928Ala)
c.95824T>G (p.Ser31942Ala)
c.77440T>G (p.Ser25814Ala)
c.98935T>G (p.Ser32979Ala)
c.98932T>G (p.Ser32978Ala)
c.98365T>G (p.Ser32789Ala)
c.95707T>G (p.Ser31903Ala)
c.95626T>G (p.Ser31876Ala)
c.77389T>G (p.Ser25797Ala)
c.67243T>G (p.Ser22415Ala)
2g.178532121A>GCA349411559TTN,TTN-AS1c.96790T>C (p.Ser32264Pro)
c.77875T>C (p.Ser25959Pro)
c.77674T>C (p.Ser25892Pro)
c.77299T>C (p.Ser25767Pro)
c.104494T>C (p.Ser34832Pro)
c.99571T>C (p.Ser33191Pro)
n.446+8485A>G
n.220-3611A>G
c.103591T>C (p.Ser34531Pro)
c.77485T>C (p.Ser25829Pro)
c.77344T>C (p.Ser25782Pro)
c.103387T>C (p.Ser34463Pro)
c.98785T>C (p.Ser32929Pro)
c.98782T>C (p.Ser32928Pro)
c.95824T>C (p.Ser31942Pro)
c.77440T>C (p.Ser25814Pro)
c.98935T>C (p.Ser32979Pro)
c.98932T>C (p.Ser32978Pro)
c.98365T>C (p.Ser32789Pro)
c.95707T>C (p.Ser31903Pro)
c.95626T>C (p.Ser31876Pro)
c.77389T>C (p.Ser25797Pro)
c.67243T>C (p.Ser22415Pro)
2g.178532121A>TCA349411558TTN,TTN-AS1c.96790T>A (p.Ser32264Thr)
c.77875T>A (p.Ser25959Thr)
c.77674T>A (p.Ser25892Thr)
c.77299T>A (p.Ser25767Thr)
c.104494T>A (p.Ser34832Thr)
c.99571T>A (p.Ser33191Thr)
n.446+8485A>T
n.220-3611A>T
c.103591T>A (p.Ser34531Thr)
c.77485T>A (p.Ser25829Thr)
c.77344T>A (p.Ser25782Thr)
c.103387T>A (p.Ser34463Thr)
c.98785T>A (p.Ser32929Thr)
c.98782T>A (p.Ser32928Thr)
c.95824T>A (p.Ser31942Thr)
c.77440T>A (p.Ser25814Thr)
c.98935T>A (p.Ser32979Thr)
c.98932T>A (p.Ser32978Thr)
c.98365T>A (p.Ser32789Thr)
c.95707T>A (p.Ser31903Thr)
c.95626T>A (p.Ser31876Thr)
c.77389T>A (p.Ser25797Thr)
c.67243T>A (p.Ser22415Thr)
2g.178532122T>ACA430235882TTN,TTN-AS1c.96789A>T (p.Ser32263=)
c.77874A>T (p.Ser25958=)
c.77673A>T (p.Ser25891=)
c.77298A>T (p.Ser25766=)
c.104493A>T (p.Ser34831=)
c.99570A>T (p.Ser33190=)
n.446+8486T>A
n.220-3610T>A
c.103590A>T (p.Ser34530=)
c.77484A>T (p.Ser25828=)
c.77343A>T (p.Ser25781=)
c.103386A>T (p.Ser34462=)
c.98784A>T (p.Ser32928=)
c.98781A>T (p.Ser32927=)
c.95823A>T (p.Ser31941=)
c.77439A>T (p.Ser25813=)
c.98934A>T (p.Ser32978=)
c.98931A>T (p.Ser32977=)
c.98364A>T (p.Ser32788=)
c.95706A>T (p.Ser31902=)
c.95625A>T (p.Ser31875=)
c.77388A>T (p.Ser25796=)
c.67242A>T (p.Ser22414=)
 gnomAD v4
2g.178532122T>CCA430235883TTN,TTN-AS1c.96789A>G (p.Ser32263=)
c.77874A>G (p.Ser25958=)
c.77673A>G (p.Ser25891=)
c.77298A>G (p.Ser25766=)
c.104493A>G (p.Ser34831=)
c.99570A>G (p.Ser33190=)
n.446+8486T>C
n.220-3610T>C
c.103590A>G (p.Ser34530=)
c.77484A>G (p.Ser25828=)
c.77343A>G (p.Ser25781=)
c.103386A>G (p.Ser34462=)
c.98784A>G (p.Ser32928=)
c.98781A>G (p.Ser32927=)
c.95823A>G (p.Ser31941=)
c.77439A>G (p.Ser25813=)
c.98934A>G (p.Ser32978=)
c.98931A>G (p.Ser32977=)
c.98364A>G (p.Ser32788=)
c.95706A>G (p.Ser31902=)
c.95625A>G (p.Ser31875=)
c.77388A>G (p.Ser25796=)
c.67242A>G (p.Ser22414=)
 ClinVar
2g.178532122T>GCA430235884TTN,TTN-AS1c.96789A>C (p.Ser32263=)
c.77874A>C (p.Ser25958=)
c.77673A>C (p.Ser25891=)
c.77298A>C (p.Ser25766=)
c.104493A>C (p.Ser34831=)
c.99570A>C (p.Ser33190=)
n.446+8486T>G
n.220-3610T>G
c.103590A>C (p.Ser34530=)
c.77484A>C (p.Ser25828=)
c.77343A>C (p.Ser25781=)
c.103386A>C (p.Ser34462=)
c.98784A>C (p.Ser32928=)
c.98781A>C (p.Ser32927=)
c.95823A>C (p.Ser31941=)
c.77439A>C (p.Ser25813=)
c.98934A>C (p.Ser32978=)
c.98931A>C (p.Ser32977=)
c.98364A>C (p.Ser32788=)
c.95706A>C (p.Ser31902=)
c.95625A>C (p.Ser31875=)
c.77388A>C (p.Ser25796=)
c.67242A>C (p.Ser22414=)
2g.178532123G>ACA349411561TTN,TTN-AS1c.96788C>T (p.Ser32263Leu)
c.77873C>T (p.Ser25958Leu)
c.77672C>T (p.Ser25891Leu)
c.77297C>T (p.Ser25766Leu)
c.104492C>T (p.Ser34831Leu)
c.99569C>T (p.Ser33190Leu)
n.446+8487G>A
n.220-3609G>A
c.103589C>T (p.Ser34530Leu)
c.77483C>T (p.Ser25828Leu)
c.77342C>T (p.Ser25781Leu)
c.103385C>T (p.Ser34462Leu)
c.98783C>T (p.Ser32928Leu)
c.98780C>T (p.Ser32927Leu)
c.95822C>T (p.Ser31941Leu)
c.77438C>T (p.Ser25813Leu)
c.98933C>T (p.Ser32978Leu)
c.98930C>T (p.Ser32977Leu)
c.98363C>T (p.Ser32788Leu)
c.95705C>T (p.Ser31902Leu)
c.95624C>T (p.Ser31875Leu)
c.77387C>T (p.Ser25796Leu)
c.67241C>T (p.Ser22414Leu)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532123G>CCA349411563TTN,TTN-AS1c.96788C>G (p.Ser32263Ter)
c.77873C>G (p.Ser25958Ter)
c.77672C>G (p.Ser25891Ter)
c.77297C>G (p.Ser25766Ter)
c.104492C>G (p.Ser34831Ter)
c.99569C>G (p.Ser33190Ter)
n.446+8487G>C
n.220-3609G>C
c.103589C>G (p.Ser34530Ter)
c.77483C>G (p.Ser25828Ter)
c.77342C>G (p.Ser25781Ter)
c.103385C>G (p.Ser34462Ter)
c.98783C>G (p.Ser32928Ter)
c.98780C>G (p.Ser32927Ter)
c.95822C>G (p.Ser31941Ter)
c.77438C>G (p.Ser25813Ter)
c.98933C>G (p.Ser32978Ter)
c.98930C>G (p.Ser32977Ter)
c.98363C>G (p.Ser32788Ter)
c.95705C>G (p.Ser31902Ter)
c.95624C>G (p.Ser31875Ter)
c.77387C>G (p.Ser25796Ter)
c.67241C>G (p.Ser22414Ter)
2g.178532123G>TCA349411564TTN,TTN-AS1c.96788C>A (p.Ser32263Ter)
c.77873C>A (p.Ser25958Ter)
c.77672C>A (p.Ser25891Ter)
c.77297C>A (p.Ser25766Ter)
c.104492C>A (p.Ser34831Ter)
c.99569C>A (p.Ser33190Ter)
n.446+8487G>T
n.220-3609G>T
c.103589C>A (p.Ser34530Ter)
c.77483C>A (p.Ser25828Ter)
c.77342C>A (p.Ser25781Ter)
c.103385C>A (p.Ser34462Ter)
c.98783C>A (p.Ser32928Ter)
c.98780C>A (p.Ser32927Ter)
c.95822C>A (p.Ser31941Ter)
c.77438C>A (p.Ser25813Ter)
c.98933C>A (p.Ser32978Ter)
c.98930C>A (p.Ser32977Ter)
c.98363C>A (p.Ser32788Ter)
c.95705C>A (p.Ser31902Ter)
c.95624C>A (p.Ser31875Ter)
c.77387C>A (p.Ser25796Ter)
c.67241C>A (p.Ser22414Ter)
2g.178532124A>CCA349411566TTN,TTN-AS1c.96787T>G (p.Ser32263Ala)
c.77872T>G (p.Ser25958Ala)
c.77671T>G (p.Ser25891Ala)
c.77296T>G (p.Ser25766Ala)
c.104491T>G (p.Ser34831Ala)
c.99568T>G (p.Ser33190Ala)
n.446+8488A>C
n.220-3608A>C
c.103588T>G (p.Ser34530Ala)
c.77482T>G (p.Ser25828Ala)
c.77341T>G (p.Ser25781Ala)
c.103384T>G (p.Ser34462Ala)
c.98782T>G (p.Ser32928Ala)
c.98779T>G (p.Ser32927Ala)
c.95821T>G (p.Ser31941Ala)
c.77437T>G (p.Ser25813Ala)
c.98932T>G (p.Ser32978Ala)
c.98929T>G (p.Ser32977Ala)
c.98362T>G (p.Ser32788Ala)
c.95704T>G (p.Ser31902Ala)
c.95623T>G (p.Ser31875Ala)
c.77386T>G (p.Ser25796Ala)
c.67240T>G (p.Ser22414Ala)
2g.178532124A>GCA349411567TTN,TTN-AS1c.96787T>C (p.Ser32263Pro)
c.77872T>C (p.Ser25958Pro)
c.77671T>C (p.Ser25891Pro)
c.77296T>C (p.Ser25766Pro)
c.104491T>C (p.Ser34831Pro)
c.99568T>C (p.Ser33190Pro)
n.446+8488A>G
n.220-3608A>G
c.103588T>C (p.Ser34530Pro)
c.77482T>C (p.Ser25828Pro)
c.77341T>C (p.Ser25781Pro)
c.103384T>C (p.Ser34462Pro)
c.98782T>C (p.Ser32928Pro)
c.98779T>C (p.Ser32927Pro)
c.95821T>C (p.Ser31941Pro)
c.77437T>C (p.Ser25813Pro)
c.98932T>C (p.Ser32978Pro)
c.98929T>C (p.Ser32977Pro)
c.98362T>C (p.Ser32788Pro)
c.95704T>C (p.Ser31902Pro)
c.95623T>C (p.Ser31875Pro)
c.77386T>C (p.Ser25796Pro)
c.67240T>C (p.Ser22414Pro)
2g.178532124A>TCA349411568TTN,TTN-AS1c.96787T>A (p.Ser32263Thr)
c.77872T>A (p.Ser25958Thr)
c.77671T>A (p.Ser25891Thr)
c.77296T>A (p.Ser25766Thr)
c.104491T>A (p.Ser34831Thr)
c.99568T>A (p.Ser33190Thr)
n.446+8488A>T
n.220-3608A>T
c.103588T>A (p.Ser34530Thr)
c.77482T>A (p.Ser25828Thr)
c.77341T>A (p.Ser25781Thr)
c.103384T>A (p.Ser34462Thr)
c.98782T>A (p.Ser32928Thr)
c.98779T>A (p.Ser32927Thr)
c.95821T>A (p.Ser31941Thr)
c.77437T>A (p.Ser25813Thr)
c.98932T>A (p.Ser32978Thr)
c.98929T>A (p.Ser32977Thr)
c.98362T>A (p.Ser32788Thr)
c.95704T>A (p.Ser31902Thr)
c.95623T>A (p.Ser31875Thr)
c.77386T>A (p.Ser25796Thr)
c.67240T>A (p.Ser22414Thr)
2g.178532125G>ACA60956182TTN,TTN-AS1c.96786C>T (p.Ser32262=)
c.77871C>T (p.Ser25957=)
c.77670C>T (p.Ser25890=)
c.77295C>T (p.Ser25765=)
c.104490C>T (p.Ser34830=)
c.99567C>T (p.Ser33189=)
n.446+8489G>A
n.220-3607G>A
c.103587C>T (p.Ser34529=)
c.77481C>T (p.Ser25827=)
c.77340C>T (p.Ser25780=)
c.103383C>T (p.Ser34461=)
c.98781C>T (p.Ser32927=)
c.98778C>T (p.Ser32926=)
c.95820C>T (p.Ser31940=)
c.77436C>T (p.Ser25812=)
c.98931C>T (p.Ser32977=)
c.98928C>T (p.Ser32976=)
c.98361C>T (p.Ser32787=)
c.95703C>T (p.Ser31901=)
c.95622C>T (p.Ser31874=)
c.77385C>T (p.Ser25795=)
c.67239C>T (p.Ser22413=)
 dbSNP
2g.178532125G>CCA430235885TTN,TTN-AS1c.96786C>G (p.Ser32262=)
c.77871C>G (p.Ser25957=)
c.77670C>G (p.Ser25890=)
c.77295C>G (p.Ser25765=)
c.104490C>G (p.Ser34830=)
c.99567C>G (p.Ser33189=)
n.446+8489G>C
n.220-3607G>C
c.103587C>G (p.Ser34529=)
c.77481C>G (p.Ser25827=)
c.77340C>G (p.Ser25780=)
c.103383C>G (p.Ser34461=)
c.98781C>G (p.Ser32927=)
c.98778C>G (p.Ser32926=)
c.95820C>G (p.Ser31940=)
c.77436C>G (p.Ser25812=)
c.98931C>G (p.Ser32977=)
c.98928C>G (p.Ser32976=)
c.98361C>G (p.Ser32787=)
c.95703C>G (p.Ser31901=)
c.95622C>G (p.Ser31874=)
c.77385C>G (p.Ser25795=)
c.67239C>G (p.Ser22413=)
2g.178532125G=CA1310518089TTN,TTN-AS1c.96786C= (p.Ser32262=)
c.77871C= (p.Ser25957=)
c.77670C= (p.Ser25890=)
c.77295C= (p.Ser25765=)
c.104490C= (p.Ser34830=)
c.99567C= (p.Ser33189=)
n.446+8489G=
n.220-3607G=
c.103587C= (p.Ser34529=)
c.77481C= (p.Ser25827=)
c.77340C= (p.Ser25780=)
c.103383C= (p.Ser34461=)
c.98781C= (p.Ser32927=)
c.98778C= (p.Ser32926=)
c.95820C= (p.Ser31940=)
c.77436C= (p.Ser25812=)
c.98931C= (p.Ser32977=)
c.98928C= (p.Ser32976=)
c.98361C= (p.Ser32787=)
c.95703C= (p.Ser31901=)
c.95622C= (p.Ser31874=)
c.77385C= (p.Ser25795=)
c.67239C= (p.Ser22413=)
2g.178532125G>TCA430235886TTN,TTN-AS1c.96786C>A (p.Ser32262=)
c.77871C>A (p.Ser25957=)
c.77670C>A (p.Ser25890=)
c.77295C>A (p.Ser25765=)
c.104490C>A (p.Ser34830=)
c.99567C>A (p.Ser33189=)
n.446+8489G>T
n.220-3607G>T
c.103587C>A (p.Ser34529=)
c.77481C>A (p.Ser25827=)
c.77340C>A (p.Ser25780=)
c.103383C>A (p.Ser34461=)
c.98781C>A (p.Ser32927=)
c.98778C>A (p.Ser32926=)
c.95820C>A (p.Ser31940=)
c.77436C>A (p.Ser25812=)
c.98931C>A (p.Ser32977=)
c.98928C>A (p.Ser32976=)
c.98361C>A (p.Ser32787=)
c.95703C>A (p.Ser31901=)
c.95622C>A (p.Ser31874=)
c.77385C>A (p.Ser25795=)
c.67239C>A (p.Ser22413=)
 dbSNP gnomAD v2 gnomAD v4
2g.178532126G>ACA349411572TTN,TTN-AS1c.96785C>T (p.Ser32262Phe)
c.77870C>T (p.Ser25957Phe)
c.77669C>T (p.Ser25890Phe)
c.77294C>T (p.Ser25765Phe)
c.104489C>T (p.Ser34830Phe)
c.99566C>T (p.Ser33189Phe)
n.446+8490G>A
n.220-3606G>A
c.103586C>T (p.Ser34529Phe)
c.77480C>T (p.Ser25827Phe)
c.77339C>T (p.Ser25780Phe)
c.103382C>T (p.Ser34461Phe)
c.98780C>T (p.Ser32927Phe)
c.98777C>T (p.Ser32926Phe)
c.95819C>T (p.Ser31940Phe)
c.77435C>T (p.Ser25812Phe)
c.98930C>T (p.Ser32977Phe)
c.98927C>T (p.Ser32976Phe)
c.98360C>T (p.Ser32787Phe)
c.95702C>T (p.Ser31901Phe)
c.95621C>T (p.Ser31874Phe)
c.77384C>T (p.Ser25795Phe)
c.67238C>T (p.Ser22413Phe)
2g.178532126G>CCA349411574TTN,TTN-AS1c.96785C>G (p.Ser32262Cys)
c.77870C>G (p.Ser25957Cys)
c.77669C>G (p.Ser25890Cys)
c.77294C>G (p.Ser25765Cys)
c.104489C>G (p.Ser34830Cys)
c.99566C>G (p.Ser33189Cys)
n.446+8490G>C
n.220-3606G>C
c.103586C>G (p.Ser34529Cys)
c.77480C>G (p.Ser25827Cys)
c.77339C>G (p.Ser25780Cys)
c.103382C>G (p.Ser34461Cys)
c.98780C>G (p.Ser32927Cys)
c.98777C>G (p.Ser32926Cys)
c.95819C>G (p.Ser31940Cys)
c.77435C>G (p.Ser25812Cys)
c.98930C>G (p.Ser32977Cys)
c.98927C>G (p.Ser32976Cys)
c.98360C>G (p.Ser32787Cys)
c.95702C>G (p.Ser31901Cys)
c.95621C>G (p.Ser31874Cys)
c.77384C>G (p.Ser25795Cys)
c.67238C>G (p.Ser22413Cys)
 dbSNP
2g.178532126G=CA1310518090TTN,TTN-AS1c.96785C= (p.Ser32262=)
c.77870C= (p.Ser25957=)
c.77669C= (p.Ser25890=)
c.77294C= (p.Ser25765=)
c.104489C= (p.Ser34830=)
c.99566C= (p.Ser33189=)
n.446+8490G=
n.220-3606G=
c.103586C= (p.Ser34529=)
c.77480C= (p.Ser25827=)
c.77339C= (p.Ser25780=)
c.103382C= (p.Ser34461=)
c.98780C= (p.Ser32927=)
c.98777C= (p.Ser32926=)
c.95819C= (p.Ser31940=)
c.77435C= (p.Ser25812=)
c.98930C= (p.Ser32977=)
c.98927C= (p.Ser32976=)
c.98360C= (p.Ser32787=)
c.95702C= (p.Ser31901=)
c.95621C= (p.Ser31874=)
c.77384C= (p.Ser25795=)
c.67238C= (p.Ser22413=)
2g.178532126G>TCA349411576TTN,TTN-AS1c.96785C>A (p.Ser32262Tyr)
c.77870C>A (p.Ser25957Tyr)
c.77669C>A (p.Ser25890Tyr)
c.77294C>A (p.Ser25765Tyr)
c.104489C>A (p.Ser34830Tyr)
c.99566C>A (p.Ser33189Tyr)
n.446+8490G>T
n.220-3606G>T
c.103586C>A (p.Ser34529Tyr)
c.77480C>A (p.Ser25827Tyr)
c.77339C>A (p.Ser25780Tyr)
c.103382C>A (p.Ser34461Tyr)
c.98780C>A (p.Ser32927Tyr)
c.98777C>A (p.Ser32926Tyr)
c.95819C>A (p.Ser31940Tyr)
c.77435C>A (p.Ser25812Tyr)
c.98930C>A (p.Ser32977Tyr)
c.98927C>A (p.Ser32976Tyr)
c.98360C>A (p.Ser32787Tyr)
c.95702C>A (p.Ser31901Tyr)
c.95621C>A (p.Ser31874Tyr)
c.77384C>A (p.Ser25795Tyr)
c.67238C>A (p.Ser22413Tyr)
2g.178532127A=CA1310518091TTN,TTN-AS1c.96784T= (p.Ser32262=)
c.77869T= (p.Ser25957=)
c.77668T= (p.Ser25890=)
c.77293T= (p.Ser25765=)
c.104488T= (p.Ser34830=)
c.99565T= (p.Ser33189=)
n.446+8491A=
n.220-3605A=
c.103585T= (p.Ser34529=)
c.77479T= (p.Ser25827=)
c.77338T= (p.Ser25780=)
c.103381T= (p.Ser34461=)
c.98779T= (p.Ser32927=)
c.98776T= (p.Ser32926=)
c.95818T= (p.Ser31940=)
c.77434T= (p.Ser25812=)
c.98929T= (p.Ser32977=)
c.98926T= (p.Ser32976=)
c.98359T= (p.Ser32787=)
c.95701T= (p.Ser31901=)
c.95620T= (p.Ser31874=)
c.77383T= (p.Ser25795=)
c.67237T= (p.Ser22413=)
2g.178532127A>CCA349411581TTN,TTN-AS1c.96784T>G (p.Ser32262Ala)
c.77869T>G (p.Ser25957Ala)
c.77668T>G (p.Ser25890Ala)
c.77293T>G (p.Ser25765Ala)
c.104488T>G (p.Ser34830Ala)
c.99565T>G (p.Ser33189Ala)
n.446+8491A>C
n.220-3605A>C
c.103585T>G (p.Ser34529Ala)
c.77479T>G (p.Ser25827Ala)
c.77338T>G (p.Ser25780Ala)
c.103381T>G (p.Ser34461Ala)
c.98779T>G (p.Ser32927Ala)
c.98776T>G (p.Ser32926Ala)
c.95818T>G (p.Ser31940Ala)
c.77434T>G (p.Ser25812Ala)
c.98929T>G (p.Ser32977Ala)
c.98926T>G (p.Ser32976Ala)
c.98359T>G (p.Ser32787Ala)
c.95701T>G (p.Ser31901Ala)
c.95620T>G (p.Ser31874Ala)
c.77383T>G (p.Ser25795Ala)
c.67237T>G (p.Ser22413Ala)
2g.178532127A>GCA349411579TTN,TTN-AS1c.96784T>C (p.Ser32262Pro)
c.77869T>C (p.Ser25957Pro)
c.77668T>C (p.Ser25890Pro)
c.77293T>C (p.Ser25765Pro)
c.104488T>C (p.Ser34830Pro)
c.99565T>C (p.Ser33189Pro)
n.446+8491A>G
n.220-3605A>G
c.103585T>C (p.Ser34529Pro)
c.77479T>C (p.Ser25827Pro)
c.77338T>C (p.Ser25780Pro)
c.103381T>C (p.Ser34461Pro)
c.98779T>C (p.Ser32927Pro)
c.98776T>C (p.Ser32926Pro)
c.95818T>C (p.Ser31940Pro)
c.77434T>C (p.Ser25812Pro)
c.98929T>C (p.Ser32977Pro)
c.98926T>C (p.Ser32976Pro)
c.98359T>C (p.Ser32787Pro)
c.95701T>C (p.Ser31901Pro)
c.95620T>C (p.Ser31874Pro)
c.77383T>C (p.Ser25795Pro)
c.67237T>C (p.Ser22413Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.178532127A>TCA349411577TTN,TTN-AS1c.96784T>A (p.Ser32262Thr)
c.77869T>A (p.Ser25957Thr)
c.77668T>A (p.Ser25890Thr)
c.77293T>A (p.Ser25765Thr)
c.104488T>A (p.Ser34830Thr)
c.99565T>A (p.Ser33189Thr)
n.446+8491A>T
n.220-3605A>T
c.103585T>A (p.Ser34529Thr)
c.77479T>A (p.Ser25827Thr)
c.77338T>A (p.Ser25780Thr)
c.103381T>A (p.Ser34461Thr)
c.98779T>A (p.Ser32927Thr)
c.98776T>A (p.Ser32926Thr)
c.95818T>A (p.Ser31940Thr)
c.77434T>A (p.Ser25812Thr)
c.98929T>A (p.Ser32977Thr)
c.98926T>A (p.Ser32976Thr)
c.98359T>A (p.Ser32787Thr)
c.95701T>A (p.Ser31901Thr)
c.95620T>A (p.Ser31874Thr)
c.77383T>A (p.Ser25795Thr)
c.67237T>A (p.Ser22413Thr)
 gnomAD v4
2g.178532128T>ACA430235887TTN,TTN-AS1c.96783A>T (p.Ser32261=)
c.77868A>T (p.Ser25956=)
c.77667A>T (p.Ser25889=)
c.77292A>T (p.Ser25764=)
c.104487A>T (p.Ser34829=)
c.99564A>T (p.Ser33188=)
n.446+8492T>A
n.220-3604T>A
c.103584A>T (p.Ser34528=)
c.77478A>T (p.Ser25826=)
c.77337A>T (p.Ser25779=)
c.103380A>T (p.Ser34460=)
c.98778A>T (p.Ser32926=)
c.98775A>T (p.Ser32925=)
c.95817A>T (p.Ser31939=)
c.77433A>T (p.Ser25811=)
c.98928A>T (p.Ser32976=)
c.98925A>T (p.Ser32975=)
c.98358A>T (p.Ser32786=)
c.95700A>T (p.Ser31900=)
c.95619A>T (p.Ser31873=)
c.77382A>T (p.Ser25794=)
c.67236A>T (p.Ser22412=)
 dbSNP gnomAD v3 gnomAD v4
2g.178532128T>CCA430235888TTN,TTN-AS1c.96783A>G (p.Ser32261=)
c.77868A>G (p.Ser25956=)
c.77667A>G (p.Ser25889=)
c.77292A>G (p.Ser25764=)
c.104487A>G (p.Ser34829=)
c.99564A>G (p.Ser33188=)
n.446+8492T>C
n.220-3604T>C
c.103584A>G (p.Ser34528=)
c.77478A>G (p.Ser25826=)
c.77337A>G (p.Ser25779=)
c.103380A>G (p.Ser34460=)
c.98778A>G (p.Ser32926=)
c.98775A>G (p.Ser32925=)
c.95817A>G (p.Ser31939=)
c.77433A>G (p.Ser25811=)
c.98928A>G (p.Ser32976=)
c.98925A>G (p.Ser32975=)
c.98358A>G (p.Ser32786=)
c.95700A>G (p.Ser31900=)
c.95619A>G (p.Ser31873=)
c.77382A>G (p.Ser25794=)
c.67236A>G (p.Ser22412=)
2g.178532128T>GCA1985417TTN,TTN-AS1c.96783A>C (p.Ser32261=)
c.77868A>C (p.Ser25956=)
c.77667A>C (p.Ser25889=)
c.77292A>C (p.Ser25764=)
c.104487A>C (p.Ser34829=)
c.99564A>C (p.Ser33188=)
n.446+8492T>G
n.220-3604T>G
c.103584A>C (p.Ser34528=)
c.77478A>C (p.Ser25826=)
c.77337A>C (p.Ser25779=)
c.103380A>C (p.Ser34460=)
c.98778A>C (p.Ser32926=)
c.98775A>C (p.Ser32925=)
c.95817A>C (p.Ser31939=)
c.77433A>C (p.Ser25811=)
c.98928A>C (p.Ser32976=)
c.98925A>C (p.Ser32975=)
c.98358A>C (p.Ser32786=)
c.95700A>C (p.Ser31900=)
c.95619A>C (p.Ser31873=)
c.77382A>C (p.Ser25794=)
c.67236A>C (p.Ser22412=)
 dbSNP ExAC gnomAD v4
2g.178532128T=CA1310518092TTN,TTN-AS1c.96783A= (p.Ser32261=)
c.77868A= (p.Ser25956=)
c.77667A= (p.Ser25889=)
c.77292A= (p.Ser25764=)
c.104487A= (p.Ser34829=)
c.99564A= (p.Ser33188=)
n.446+8492T=
n.220-3604T=
c.103584A= (p.Ser34528=)
c.77478A= (p.Ser25826=)
c.77337A= (p.Ser25779=)
c.103380A= (p.Ser34460=)
c.98778A= (p.Ser32926=)
c.98775A= (p.Ser32925=)
c.95817A= (p.Ser31939=)
c.77433A= (p.Ser25811=)
c.98928A= (p.Ser32976=)
c.98925A= (p.Ser32975=)
c.98358A= (p.Ser32786=)
c.95700A= (p.Ser31900=)
c.95619A= (p.Ser31873=)
c.77382A= (p.Ser25794=)
c.67236A= (p.Ser22412=)
2g.178532129_178532132dupCA2740095955TTN,TTN-AS1c.96780_96783dup (p.Ser32262IlefsTer7)
c.77865_77868dup (p.Ser25957IlefsTer7)
c.77664_77667dup (p.Ser25890IlefsTer7)
c.77289_77292dup (p.Ser25765IlefsTer7)
c.104484_104487dup (p.Ser34830IlefsTer7)
c.99561_99564dup (p.Ser33189IlefsTer7)
n.446+8493_446+8496dup
n.220-3603_220-3600dup
c.103581_103584dup (p.Ser34529IlefsTer7)
c.77475_77478dup (p.Ser25827IlefsTer7)
c.77334_77337dup (p.Ser25780IlefsTer7)
c.103377_103380dup (p.Ser34461IlefsTer7)
c.98775_98778dup (p.Ser32927IlefsTer7)
c.98772_98775dup (p.Ser32926IlefsTer7)
c.95814_95817dup (p.Ser31940IlefsTer7)
c.77430_77433dup (p.Ser25812IlefsTer7)
c.98925_98928dup (p.Ser32977IlefsTer7)
c.98922_98925dup (p.Ser32976IlefsTer7)
c.98355_98358dup (p.Ser32787IlefsTer7)
c.95697_95700dup (p.Ser31901IlefsTer7)
c.95616_95619dup (p.Ser31874IlefsTer7)
c.77379_77382dup (p.Ser25795IlefsTer7)
c.67233_67236dup (p.Ser22413IlefsTer7)
 ClinVar
2g.178532129G>ACA349411583TTN,TTN-AS1c.96782C>T (p.Ser32261Leu)
c.77867C>T (p.Ser25956Leu)
c.77666C>T (p.Ser25889Leu)
c.77291C>T (p.Ser25764Leu)
c.104486C>T (p.Ser34829Leu)
c.99563C>T (p.Ser33188Leu)
n.446+8493G>A
n.220-3603G>A
c.103583C>T (p.Ser34528Leu)
c.77477C>T (p.Ser25826Leu)
c.77336C>T (p.Ser25779Leu)
c.103379C>T (p.Ser34460Leu)
c.98777C>T (p.Ser32926Leu)
c.98774C>T (p.Ser32925Leu)
c.95816C>T (p.Ser31939Leu)
c.77432C>T (p.Ser25811Leu)
c.98927C>T (p.Ser32976Leu)
c.98924C>T (p.Ser32975Leu)
c.98357C>T (p.Ser32786Leu)
c.95699C>T (p.Ser31900Leu)
c.95618C>T (p.Ser31873Leu)
c.77381C>T (p.Ser25794Leu)
c.67235C>T (p.Ser22412Leu)
2g.178532129G>CCA349411584TTN,TTN-AS1c.96782C>G (p.Ser32261Ter)
c.77867C>G (p.Ser25956Ter)
c.77666C>G (p.Ser25889Ter)
c.77291C>G (p.Ser25764Ter)
c.104486C>G (p.Ser34829Ter)
c.99563C>G (p.Ser33188Ter)
n.446+8493G>C
n.220-3603G>C
c.103583C>G (p.Ser34528Ter)
c.77477C>G (p.Ser25826Ter)
c.77336C>G (p.Ser25779Ter)
c.103379C>G (p.Ser34460Ter)
c.98777C>G (p.Ser32926Ter)
c.98774C>G (p.Ser32925Ter)
c.95816C>G (p.Ser31939Ter)
c.77432C>G (p.Ser25811Ter)
c.98927C>G (p.Ser32976Ter)
c.98924C>G (p.Ser32975Ter)
c.98357C>G (p.Ser32786Ter)
c.95699C>G (p.Ser31900Ter)
c.95618C>G (p.Ser31873Ter)
c.77381C>G (p.Ser25794Ter)
c.67235C>G (p.Ser22412Ter)
 dbSNP gnomAD v4
2g.178532129G=CA1310518093TTN,TTN-AS1c.96782C= (p.Ser32261=)
c.77867C= (p.Ser25956=)
c.77666C= (p.Ser25889=)
c.77291C= (p.Ser25764=)
c.104486C= (p.Ser34829=)
c.99563C= (p.Ser33188=)
n.446+8493G=
n.220-3603G=
c.103583C= (p.Ser34528=)
c.77477C= (p.Ser25826=)
c.77336C= (p.Ser25779=)
c.103379C= (p.Ser34460=)
c.98777C= (p.Ser32926=)
c.98774C= (p.Ser32925=)
c.95816C= (p.Ser31939=)
c.77432C= (p.Ser25811=)
c.98927C= (p.Ser32976=)
c.98924C= (p.Ser32975=)
c.98357C= (p.Ser32786=)
c.95699C= (p.Ser31900=)
c.95618C= (p.Ser31873=)
c.77381C= (p.Ser25794=)
c.67235C= (p.Ser22412=)
2g.178532129G>TCA349411585TTN,TTN-AS1c.96782C>A (p.Ser32261Ter)
c.77867C>A (p.Ser25956Ter)
c.77666C>A (p.Ser25889Ter)
c.77291C>A (p.Ser25764Ter)
c.104486C>A (p.Ser34829Ter)
c.99563C>A (p.Ser33188Ter)
n.446+8493G>T
n.220-3603G>T
c.103583C>A (p.Ser34528Ter)
c.77477C>A (p.Ser25826Ter)
c.77336C>A (p.Ser25779Ter)
c.103379C>A (p.Ser34460Ter)
c.98777C>A (p.Ser32926Ter)
c.98774C>A (p.Ser32925Ter)
c.95816C>A (p.Ser31939Ter)
c.77432C>A (p.Ser25811Ter)
c.98927C>A (p.Ser32976Ter)
c.98924C>A (p.Ser32975Ter)
c.98357C>A (p.Ser32786Ter)
c.95699C>A (p.Ser31900Ter)
c.95618C>A (p.Ser31873Ter)
c.77381C>A (p.Ser25794Ter)
c.67235C>A (p.Ser22412Ter)
 gnomAD v4
2g.178532130A>CCA349411587TTN,TTN-AS1c.96781T>G (p.Ser32261Ala)
c.77866T>G (p.Ser25956Ala)
c.77665T>G (p.Ser25889Ala)
c.77290T>G (p.Ser25764Ala)
c.104485T>G (p.Ser34829Ala)
c.99562T>G (p.Ser33188Ala)
n.446+8494A>C
n.220-3602A>C
c.103582T>G (p.Ser34528Ala)
c.77476T>G (p.Ser25826Ala)
c.77335T>G (p.Ser25779Ala)
c.103378T>G (p.Ser34460Ala)
c.98776T>G (p.Ser32926Ala)
c.98773T>G (p.Ser32925Ala)
c.95815T>G (p.Ser31939Ala)
c.77431T>G (p.Ser25811Ala)
c.98926T>G (p.Ser32976Ala)
c.98923T>G (p.Ser32975Ala)
c.98356T>G (p.Ser32786Ala)
c.95698T>G (p.Ser31900Ala)
c.95617T>G (p.Ser31873Ala)
c.77380T>G (p.Ser25794Ala)
c.67234T>G (p.Ser22412Ala)
2g.178532130A>GCA349411589TTN,TTN-AS1c.96781T>C (p.Ser32261Pro)
c.77866T>C (p.Ser25956Pro)
c.77665T>C (p.Ser25889Pro)
c.77290T>C (p.Ser25764Pro)
c.104485T>C (p.Ser34829Pro)
c.99562T>C (p.Ser33188Pro)
n.446+8494A>G
n.220-3602A>G
c.103582T>C (p.Ser34528Pro)
c.77476T>C (p.Ser25826Pro)
c.77335T>C (p.Ser25779Pro)
c.103378T>C (p.Ser34460Pro)
c.98776T>C (p.Ser32926Pro)
c.98773T>C (p.Ser32925Pro)
c.95815T>C (p.Ser31939Pro)
c.77431T>C (p.Ser25811Pro)
c.98926T>C (p.Ser32976Pro)
c.98923T>C (p.Ser32975Pro)
c.98356T>C (p.Ser32786Pro)
c.95698T>C (p.Ser31900Pro)
c.95617T>C (p.Ser31873Pro)
c.77380T>C (p.Ser25794Pro)
c.67234T>C (p.Ser22412Pro)
2g.178532130A>TCA349411591TTN,TTN-AS1c.96781T>A (p.Ser32261Thr)
c.77866T>A (p.Ser25956Thr)
c.77665T>A (p.Ser25889Thr)
c.77290T>A (p.Ser25764Thr)
c.104485T>A (p.Ser34829Thr)
c.99562T>A (p.Ser33188Thr)
n.446+8494A>T
n.220-3602A>T
c.103582T>A (p.Ser34528Thr)
c.77476T>A (p.Ser25826Thr)
c.77335T>A (p.Ser25779Thr)
c.103378T>A (p.Ser34460Thr)
c.98776T>A (p.Ser32926Thr)
c.98773T>A (p.Ser32925Thr)
c.95815T>A (p.Ser31939Thr)
c.77431T>A (p.Ser25811Thr)
c.98926T>A (p.Ser32976Thr)
c.98923T>A (p.Ser32975Thr)
c.98356T>A (p.Ser32786Thr)
c.95698T>A (p.Ser31900Thr)
c.95617T>A (p.Ser31873Thr)
c.77380T>A (p.Ser25794Thr)
c.67234T>A (p.Ser22412Thr)
2g.178532131T>ACA1985418TTN,TTN-AS1c.96780A>T (p.Glu32260Asp)
c.77865A>T (p.Glu25955Asp)
c.77664A>T (p.Glu25888Asp)
c.77289A>T (p.Glu25763Asp)
c.104484A>T (p.Glu34828Asp)
c.99561A>T (p.Glu33187Asp)
n.446+8495T>A
n.220-3601T>A
c.103581A>T (p.Glu34527Asp)
c.77475A>T (p.Glu25825Asp)
c.77334A>T (p.Glu25778Asp)
c.103377A>T (p.Glu34459Asp)
c.98775A>T (p.Glu32925Asp)
c.98772A>T (p.Glu32924Asp)
c.95814A>T (p.Glu31938Asp)
c.77430A>T (p.Glu25810Asp)
c.98925A>T (p.Glu32975Asp)
c.98922A>T (p.Glu32974Asp)
c.98355A>T (p.Glu32785Asp)
c.95697A>T (p.Glu31899Asp)
c.95616A>T (p.Glu31872Asp)
c.77379A>T (p.Glu25793Asp)
c.67233A>T (p.Glu22411Asp)
 dbSNP ExAC gnomAD v2
2g.178532131T>CCA430235889TTN,TTN-AS1c.96780A>G (p.Glu32260=)
c.77865A>G (p.Glu25955=)
c.77664A>G (p.Glu25888=)
c.77289A>G (p.Glu25763=)
c.104484A>G (p.Glu34828=)
c.99561A>G (p.Glu33187=)
n.446+8495T>C
n.220-3601T>C
c.103581A>G (p.Glu34527=)
c.77475A>G (p.Glu25825=)
c.77334A>G (p.Glu25778=)
c.103377A>G (p.Glu34459=)
c.98775A>G (p.Glu32925=)
c.98772A>G (p.Glu32924=)
c.95814A>G (p.Glu31938=)
c.77430A>G (p.Glu25810=)
c.98925A>G (p.Glu32975=)
c.98922A>G (p.Glu32974=)
c.98355A>G (p.Glu32785=)
c.95697A>G (p.Glu31899=)
c.95616A>G (p.Glu31872=)
c.77379A>G (p.Glu25793=)
c.67233A>G (p.Glu22411=)
2g.178532131T>GCA349411593TTN,TTN-AS1c.96780A>C (p.Glu32260Asp)
c.77865A>C (p.Glu25955Asp)
c.77664A>C (p.Glu25888Asp)
c.77289A>C (p.Glu25763Asp)
c.104484A>C (p.Glu34828Asp)
c.99561A>C (p.Glu33187Asp)
n.446+8495T>G
n.220-3601T>G
c.103581A>C (p.Glu34527Asp)
c.77475A>C (p.Glu25825Asp)
c.77334A>C (p.Glu25778Asp)
c.103377A>C (p.Glu34459Asp)
c.98775A>C (p.Glu32925Asp)
c.98772A>C (p.Glu32924Asp)
c.95814A>C (p.Glu31938Asp)
c.77430A>C (p.Glu25810Asp)
c.98925A>C (p.Glu32975Asp)
c.98922A>C (p.Glu32974Asp)
c.98355A>C (p.Glu32785Asp)
c.95697A>C (p.Glu31899Asp)
c.95616A>C (p.Glu31872Asp)
c.77379A>C (p.Glu25793Asp)
c.67233A>C (p.Glu22411Asp)
2g.178532131T=CA1310518094TTN,TTN-AS1c.96780A= (p.Glu32260=)
c.77865A= (p.Glu25955=)
c.77664A= (p.Glu25888=)
c.77289A= (p.Glu25763=)
c.104484A= (p.Glu34828=)
c.99561A= (p.Glu33187=)
n.446+8495T=
n.220-3601T=
c.103581A= (p.Glu34527=)
c.77475A= (p.Glu25825=)
c.77334A= (p.Glu25778=)
c.103377A= (p.Glu34459=)
c.98775A= (p.Glu32925=)
c.98772A= (p.Glu32924=)
c.95814A= (p.Glu31938=)
c.77430A= (p.Glu25810=)
c.98925A= (p.Glu32975=)
c.98922A= (p.Glu32974=)
c.98355A= (p.Glu32785=)
c.95697A= (p.Glu31899=)
c.95616A= (p.Glu31872=)
c.77379A= (p.Glu25793=)
c.67233A= (p.Glu22411=)
2g.178532132T>ACA349411595TTN,TTN-AS1c.96779A>T (p.Glu32260Val)
c.77864A>T (p.Glu25955Val)
c.77663A>T (p.Glu25888Val)
c.77288A>T (p.Glu25763Val)
c.104483A>T (p.Glu34828Val)
c.99560A>T (p.Glu33187Val)
n.446+8496T>A
n.220-3600T>A
c.103580A>T (p.Glu34527Val)
c.77474A>T (p.Glu25825Val)
c.77333A>T (p.Glu25778Val)
c.103376A>T (p.Glu34459Val)
c.98774A>T (p.Glu32925Val)
c.98771A>T (p.Glu32924Val)
c.95813A>T (p.Glu31938Val)
c.77429A>T (p.Glu25810Val)
c.98924A>T (p.Glu32975Val)
c.98921A>T (p.Glu32974Val)
c.98354A>T (p.Glu32785Val)
c.95696A>T (p.Glu31899Val)
c.95615A>T (p.Glu31872Val)
c.77378A>T (p.Glu25793Val)
c.67232A>T (p.Glu22411Val)
2g.178532132T>CCA60956191TTN,TTN-AS1c.96779A>G (p.Glu32260Gly)
c.77864A>G (p.Glu25955Gly)
c.77663A>G (p.Glu25888Gly)
c.77288A>G (p.Glu25763Gly)
c.104483A>G (p.Glu34828Gly)
c.99560A>G (p.Glu33187Gly)
n.446+8496T>C
n.220-3600T>C
c.103580A>G (p.Glu34527Gly)
c.77474A>G (p.Glu25825Gly)
c.77333A>G (p.Glu25778Gly)
c.103376A>G (p.Glu34459Gly)
c.98774A>G (p.Glu32925Gly)
c.98771A>G (p.Glu32924Gly)
c.95813A>G (p.Glu31938Gly)
c.77429A>G (p.Glu25810Gly)
c.98924A>G (p.Glu32975Gly)
c.98921A>G (p.Glu32974Gly)
c.98354A>G (p.Glu32785Gly)
c.95696A>G (p.Glu31899Gly)
c.95615A>G (p.Glu31872Gly)
c.77378A>G (p.Glu25793Gly)
c.67232A>G (p.Glu22411Gly)
 ClinVar dbSNP gnomAD v4
2g.178532132T>GCA349411597TTN,TTN-AS1c.96779A>C (p.Glu32260Ala)
c.77864A>C (p.Glu25955Ala)
c.77663A>C (p.Glu25888Ala)
c.77288A>C (p.Glu25763Ala)
c.104483A>C (p.Glu34828Ala)
c.99560A>C (p.Glu33187Ala)
n.446+8496T>G
n.220-3600T>G
c.103580A>C (p.Glu34527Ala)
c.77474A>C (p.Glu25825Ala)
c.77333A>C (p.Glu25778Ala)
c.103376A>C (p.Glu34459Ala)
c.98774A>C (p.Glu32925Ala)
c.98771A>C (p.Glu32924Ala)
c.95813A>C (p.Glu31938Ala)
c.77429A>C (p.Glu25810Ala)
c.98924A>C (p.Glu32975Ala)
c.98921A>C (p.Glu32974Ala)
c.98354A>C (p.Glu32785Ala)
c.95696A>C (p.Glu31899Ala)
c.95615A>C (p.Glu31872Ala)
c.77378A>C (p.Glu25793Ala)
c.67232A>C (p.Glu22411Ala)
2g.178532132T=CA1310518095TTN,TTN-AS1c.96779A= (p.Glu32260=)
c.77864A= (p.Glu25955=)
c.77663A= (p.Glu25888=)
c.77288A= (p.Glu25763=)
c.104483A= (p.Glu34828=)
c.99560A= (p.Glu33187=)
n.446+8496T=
n.220-3600T=
c.103580A= (p.Glu34527=)
c.77474A= (p.Glu25825=)
c.77333A= (p.Glu25778=)
c.103376A= (p.Glu34459=)
c.98774A= (p.Glu32925=)
c.98771A= (p.Glu32924=)
c.95813A= (p.Glu31938=)
c.77429A= (p.Glu25810=)
c.98924A= (p.Glu32975=)
c.98921A= (p.Glu32974=)
c.98354A= (p.Glu32785=)
c.95696A= (p.Glu31899=)
c.95615A= (p.Glu31872=)
c.77378A= (p.Glu25793=)
c.67232A= (p.Glu22411=)
2g.178532133C>ACA349411599TTN,TTN-AS1c.96778G>T (p.Glu32260Ter)
c.77863G>T (p.Glu25955Ter)
c.77662G>T (p.Glu25888Ter)
c.77287G>T (p.Glu25763Ter)
c.104482G>T (p.Glu34828Ter)
c.99559G>T (p.Glu33187Ter)
n.446+8497C>A
n.220-3599C>A
c.103579G>T (p.Glu34527Ter)
c.77473G>T (p.Glu25825Ter)
c.77332G>T (p.Glu25778Ter)
c.103375G>T (p.Glu34459Ter)
c.98773G>T (p.Glu32925Ter)
c.98770G>T (p.Glu32924Ter)
c.95812G>T (p.Glu31938Ter)
c.77428G>T (p.Glu25810Ter)
c.98923G>T (p.Glu32975Ter)
c.98920G>T (p.Glu32974Ter)
c.98353G>T (p.Glu32785Ter)
c.95695G>T (p.Glu31899Ter)
c.95614G>T (p.Glu31872Ter)
c.77377G>T (p.Glu25793Ter)
c.67231G>T (p.Glu22411Ter)
 gnomAD v4
2g.178532133C>GCA349411601TTN,TTN-AS1c.96778G>C (p.Glu32260Gln)
c.77863G>C (p.Glu25955Gln)
c.77662G>C (p.Glu25888Gln)
c.77287G>C (p.Glu25763Gln)
c.104482G>C (p.Glu34828Gln)
c.99559G>C (p.Glu33187Gln)
n.446+8497C>G
n.220-3599C>G
c.103579G>C (p.Glu34527Gln)
c.77473G>C (p.Glu25825Gln)
c.77332G>C (p.Glu25778Gln)
c.103375G>C (p.Glu34459Gln)
c.98773G>C (p.Glu32925Gln)
c.98770G>C (p.Glu32924Gln)
c.95812G>C (p.Glu31938Gln)
c.77428G>C (p.Glu25810Gln)
c.98923G>C (p.Glu32975Gln)
c.98920G>C (p.Glu32974Gln)
c.98353G>C (p.Glu32785Gln)
c.95695G>C (p.Glu31899Gln)
c.95614G>C (p.Glu31872Gln)
c.77377G>C (p.Glu25793Gln)
c.67231G>C (p.Glu22411Gln)
2g.178532133C>TCA349411603TTN,TTN-AS1c.96778G>A (p.Glu32260Lys)
c.77863G>A (p.Glu25955Lys)
c.77662G>A (p.Glu25888Lys)
c.77287G>A (p.Glu25763Lys)
c.104482G>A (p.Glu34828Lys)
c.99559G>A (p.Glu33187Lys)
n.446+8497C>T
n.220-3599C>T
c.103579G>A (p.Glu34527Lys)
c.77473G>A (p.Glu25825Lys)
c.77332G>A (p.Glu25778Lys)
c.103375G>A (p.Glu34459Lys)
c.98773G>A (p.Glu32925Lys)
c.98770G>A (p.Glu32924Lys)
c.95812G>A (p.Glu31938Lys)
c.77428G>A (p.Glu25810Lys)
c.98923G>A (p.Glu32975Lys)
c.98920G>A (p.Glu32974Lys)
c.98353G>A (p.Glu32785Lys)
c.95695G>A (p.Glu31899Lys)
c.95614G>A (p.Glu31872Lys)
c.77377G>A (p.Glu25793Lys)
c.67231G>A (p.Glu22411Lys)
2g.178532134T>ACA349411604TTN,TTN-AS1c.96777A>T (p.Arg32259Ser)
c.77862A>T (p.Arg25954Ser)
c.77661A>T (p.Arg25887Ser)
c.77286A>T (p.Arg25762Ser)
c.104481A>T (p.Arg34827Ser)
c.99558A>T (p.Arg33186Ser)
n.446+8498T>A
n.220-3598T>A
c.103578A>T (p.Arg34526Ser)
c.77472A>T (p.Arg25824Ser)
c.77331A>T (p.Arg25777Ser)
c.103374A>T (p.Arg34458Ser)
c.98772A>T (p.Arg32924Ser)
c.98769A>T (p.Arg32923Ser)
c.95811A>T (p.Arg31937Ser)
c.77427A>T (p.Arg25809Ser)
c.98922A>T (p.Arg32974Ser)
c.98919A>T (p.Arg32973Ser)
c.98352A>T (p.Arg32784Ser)
c.95694A>T (p.Arg31898Ser)
c.95613A>T (p.Arg31871Ser)
c.77376A>T (p.Arg25792Ser)
c.67230A>T (p.Arg22410Ser)
2g.178532134T>CCA430235890TTN,TTN-AS1c.96777A>G (p.Arg32259=)
c.77862A>G (p.Arg25954=)
c.77661A>G (p.Arg25887=)
c.77286A>G (p.Arg25762=)
c.104481A>G (p.Arg34827=)
c.99558A>G (p.Arg33186=)
n.446+8498T>C
n.220-3598T>C
c.103578A>G (p.Arg34526=)
c.77472A>G (p.Arg25824=)
c.77331A>G (p.Arg25777=)
c.103374A>G (p.Arg34458=)
c.98772A>G (p.Arg32924=)
c.98769A>G (p.Arg32923=)
c.95811A>G (p.Arg31937=)
c.77427A>G (p.Arg25809=)
c.98922A>G (p.Arg32974=)
c.98919A>G (p.Arg32973=)
c.98352A>G (p.Arg32784=)
c.95694A>G (p.Arg31898=)
c.95613A>G (p.Arg31871=)
c.77376A>G (p.Arg25792=)
c.67230A>G (p.Arg22410=)
2g.178532134T>GCA349411605TTN,TTN-AS1c.96777A>C (p.Arg32259Ser)
c.77862A>C (p.Arg25954Ser)
c.77661A>C (p.Arg25887Ser)
c.77286A>C (p.Arg25762Ser)
c.104481A>C (p.Arg34827Ser)
c.99558A>C (p.Arg33186Ser)
n.446+8498T>G
n.220-3598T>G
c.103578A>C (p.Arg34526Ser)
c.77472A>C (p.Arg25824Ser)
c.77331A>C (p.Arg25777Ser)
c.103374A>C (p.Arg34458Ser)
c.98772A>C (p.Arg32924Ser)
c.98769A>C (p.Arg32923Ser)
c.95811A>C (p.Arg31937Ser)
c.77427A>C (p.Arg25809Ser)
c.98922A>C (p.Arg32974Ser)
c.98919A>C (p.Arg32973Ser)
c.98352A>C (p.Arg32784Ser)
c.95694A>C (p.Arg31898Ser)
c.95613A>C (p.Arg31871Ser)
c.77376A>C (p.Arg25792Ser)
c.67230A>C (p.Arg22410Ser)
2g.178532135C>ACA349411608TTN,TTN-AS1c.96776G>T (p.Arg32259Ile)
c.77861G>T (p.Arg25954Ile)
c.77660G>T (p.Arg25887Ile)
c.77285G>T (p.Arg25762Ile)
c.104480G>T (p.Arg34827Ile)
c.99557G>T (p.Arg33186Ile)
n.446+8499C>A
n.220-3597C>A
c.103577G>T (p.Arg34526Ile)
c.77471G>T (p.Arg25824Ile)
c.77330G>T (p.Arg25777Ile)
c.103373G>T (p.Arg34458Ile)
c.98771G>T (p.Arg32924Ile)
c.98768G>T (p.Arg32923Ile)
c.95810G>T (p.Arg31937Ile)
c.77426G>T (p.Arg25809Ile)
c.98921G>T (p.Arg32974Ile)
c.98918G>T (p.Arg32973Ile)
c.98351G>T (p.Arg32784Ile)
c.95693G>T (p.Arg31898Ile)
c.95612G>T (p.Arg31871Ile)
c.77375G>T (p.Arg25792Ile)
c.67229G>T (p.Arg22410Ile)
2g.178532135C>GCA349411609TTN,TTN-AS1c.96776G>C (p.Arg32259Thr)
c.77861G>C (p.Arg25954Thr)
c.77660G>C (p.Arg25887Thr)
c.77285G>C (p.Arg25762Thr)
c.104480G>C (p.Arg34827Thr)
c.99557G>C (p.Arg33186Thr)
n.446+8499C>G
n.220-3597C>G
c.103577G>C (p.Arg34526Thr)
c.77471G>C (p.Arg25824Thr)
c.77330G>C (p.Arg25777Thr)
c.103373G>C (p.Arg34458Thr)
c.98771G>C (p.Arg32924Thr)
c.98768G>C (p.Arg32923Thr)
c.95810G>C (p.Arg31937Thr)
c.77426G>C (p.Arg25809Thr)
c.98921G>C (p.Arg32974Thr)
c.98918G>C (p.Arg32973Thr)
c.98351G>C (p.Arg32784Thr)
c.95693G>C (p.Arg31898Thr)
c.95612G>C (p.Arg31871Thr)
c.77375G>C (p.Arg25792Thr)
c.67229G>C (p.Arg22410Thr)
2g.178532135C>TCA349411610TTN,TTN-AS1c.96776G>A (p.Arg32259Lys)
c.77861G>A (p.Arg25954Lys)
c.77660G>A (p.Arg25887Lys)
c.77285G>A (p.Arg25762Lys)
c.104480G>A (p.Arg34827Lys)
c.99557G>A (p.Arg33186Lys)
n.446+8499C>T
n.220-3597C>T
c.103577G>A (p.Arg34526Lys)
c.77471G>A (p.Arg25824Lys)
c.77330G>A (p.Arg25777Lys)
c.103373G>A (p.Arg34458Lys)
c.98771G>A (p.Arg32924Lys)
c.98768G>A (p.Arg32923Lys)
c.95810G>A (p.Arg31937Lys)
c.77426G>A (p.Arg25809Lys)
c.98921G>A (p.Arg32974Lys)
c.98918G>A (p.Arg32973Lys)
c.98351G>A (p.Arg32784Lys)
c.95693G>A (p.Arg31898Lys)
c.95612G>A (p.Arg31871Lys)
c.77375G>A (p.Arg25792Lys)
c.67229G>A (p.Arg22410Lys)
2g.178532136T>ACA349411612TTN,TTN-AS1c.96775A>T (p.Arg32259Ter)
c.77860A>T (p.Arg25954Ter)
c.77659A>T (p.Arg25887Ter)
c.77284A>T (p.Arg25762Ter)
c.104479A>T (p.Arg34827Ter)
c.99556A>T (p.Arg33186Ter)
n.446+8500T>A
n.220-3596T>A
c.103576A>T (p.Arg34526Ter)
c.77470A>T (p.Arg25824Ter)
c.77329A>T (p.Arg25777Ter)
c.103372A>T (p.Arg34458Ter)
c.98770A>T (p.Arg32924Ter)
c.98767A>T (p.Arg32923Ter)
c.95809A>T (p.Arg31937Ter)
c.77425A>T (p.Arg25809Ter)
c.98920A>T (p.Arg32974Ter)
c.98917A>T (p.Arg32973Ter)
c.98350A>T (p.Arg32784Ter)
c.95692A>T (p.Arg31898Ter)
c.95611A>T (p.Arg31871Ter)
c.77374A>T (p.Arg25792Ter)
c.67228A>T (p.Arg22410Ter)
2g.178532136T>CCA349411613TTN,TTN-AS1c.96775A>G (p.Arg32259Gly)
c.77860A>G (p.Arg25954Gly)
c.77659A>G (p.Arg25887Gly)
c.77284A>G (p.Arg25762Gly)
c.104479A>G (p.Arg34827Gly)
c.99556A>G (p.Arg33186Gly)
n.446+8500T>C
n.220-3596T>C
c.103576A>G (p.Arg34526Gly)
c.77470A>G (p.Arg25824Gly)
c.77329A>G (p.Arg25777Gly)
c.103372A>G (p.Arg34458Gly)
c.98770A>G (p.Arg32924Gly)
c.98767A>G (p.Arg32923Gly)
c.95809A>G (p.Arg31937Gly)
c.77425A>G (p.Arg25809Gly)
c.98920A>G (p.Arg32974Gly)
c.98917A>G (p.Arg32973Gly)
c.98350A>G (p.Arg32784Gly)
c.95692A>G (p.Arg31898Gly)
c.95611A>G (p.Arg31871Gly)
c.77374A>G (p.Arg25792Gly)
c.67228A>G (p.Arg22410Gly)
2g.178532136T>GCA430235891TTN,TTN-AS1c.96775A>C (p.Arg32259=)
c.77860A>C (p.Arg25954=)
c.77659A>C (p.Arg25887=)
c.77284A>C (p.Arg25762=)
c.104479A>C (p.Arg34827=)
c.99556A>C (p.Arg33186=)
n.446+8500T>G
n.220-3596T>G
c.103576A>C (p.Arg34526=)
c.77470A>C (p.Arg25824=)
c.77329A>C (p.Arg25777=)
c.103372A>C (p.Arg34458=)
c.98770A>C (p.Arg32924=)
c.98767A>C (p.Arg32923=)
c.95809A>C (p.Arg31937=)
c.77425A>C (p.Arg25809=)
c.98920A>C (p.Arg32974=)
c.98917A>C (p.Arg32973=)
c.98350A>C (p.Arg32784=)
c.95692A>C (p.Arg31898=)
c.95611A>C (p.Arg31871=)
c.77374A>C (p.Arg25792=)
c.67228A>C (p.Arg22410=)
2g.178532137T>ACA349411615TTN,TTN-AS1c.96774A>T (p.Gln32258His)
c.77859A>T (p.Gln25953His)
c.77658A>T (p.Gln25886His)
c.77283A>T (p.Gln25761His)
c.104478A>T (p.Gln34826His)
c.99555A>T (p.Gln33185His)
n.446+8501T>A
n.220-3595T>A
c.103575A>T (p.Gln34525His)
c.77469A>T (p.Gln25823His)
c.77328A>T (p.Gln25776His)
c.103371A>T (p.Gln34457His)
c.98769A>T (p.Gln32923His)
c.98766A>T (p.Gln32922His)
c.95808A>T (p.Gln31936His)
c.77424A>T (p.Gln25808His)
c.98919A>T (p.Gln32973His)
c.98916A>T (p.Gln32972His)
c.98349A>T (p.Gln32783His)
c.95691A>T (p.Gln31897His)
c.95610A>T (p.Gln31870His)
c.77373A>T (p.Gln25791His)
c.67227A>T (p.Gln22409His)
2g.178532137T>CCA430235892TTN,TTN-AS1c.96774A>G (p.Gln32258=)
c.77859A>G (p.Gln25953=)
c.77658A>G (p.Gln25886=)
c.77283A>G (p.Gln25761=)
c.104478A>G (p.Gln34826=)
c.99555A>G (p.Gln33185=)
n.446+8501T>C
n.220-3595T>C
c.103575A>G (p.Gln34525=)
c.77469A>G (p.Gln25823=)
c.77328A>G (p.Gln25776=)
c.103371A>G (p.Gln34457=)
c.98769A>G (p.Gln32923=)
c.98766A>G (p.Gln32922=)
c.95808A>G (p.Gln31936=)
c.77424A>G (p.Gln25808=)
c.98919A>G (p.Gln32973=)
c.98916A>G (p.Gln32972=)
c.98349A>G (p.Gln32783=)
c.95691A>G (p.Gln31897=)
c.95610A>G (p.Gln31870=)
c.77373A>G (p.Gln25791=)
c.67227A>G (p.Gln22409=)
2g.178532137T>GCA349411617TTN,TTN-AS1c.96774A>C (p.Gln32258His)
c.77859A>C (p.Gln25953His)
c.77658A>C (p.Gln25886His)
c.77283A>C (p.Gln25761His)
c.104478A>C (p.Gln34826His)
c.99555A>C (p.Gln33185His)
n.446+8501T>G
n.220-3595T>G
c.103575A>C (p.Gln34525His)
c.77469A>C (p.Gln25823His)
c.77328A>C (p.Gln25776His)
c.103371A>C (p.Gln34457His)
c.98769A>C (p.Gln32923His)
c.98766A>C (p.Gln32922His)
c.95808A>C (p.Gln31936His)
c.77424A>C (p.Gln25808His)
c.98919A>C (p.Gln32973His)
c.98916A>C (p.Gln32972His)
c.98349A>C (p.Gln32783His)
c.95691A>C (p.Gln31897His)
c.95610A>C (p.Gln31870His)
c.77373A>C (p.Gln25791His)
c.67227A>C (p.Gln22409His)
2g.178532138T>ACA349411619TTN,TTN-AS1c.96773A>T (p.Gln32258Leu)
c.77858A>T (p.Gln25953Leu)
c.77657A>T (p.Gln25886Leu)
c.77282A>T (p.Gln25761Leu)
c.104477A>T (p.Gln34826Leu)
c.99554A>T (p.Gln33185Leu)
n.446+8502T>A
n.220-3594T>A
c.103574A>T (p.Gln34525Leu)
c.77468A>T (p.Gln25823Leu)
c.77327A>T (p.Gln25776Leu)
c.103370A>T (p.Gln34457Leu)
c.98768A>T (p.Gln32923Leu)
c.98765A>T (p.Gln32922Leu)
c.95807A>T (p.Gln31936Leu)
c.77423A>T (p.Gln25808Leu)
c.98918A>T (p.Gln32973Leu)
c.98915A>T (p.Gln32972Leu)
c.98348A>T (p.Gln32783Leu)
c.95690A>T (p.Gln31897Leu)
c.95609A>T (p.Gln31870Leu)
c.77372A>T (p.Gln25791Leu)
c.67226A>T (p.Gln22409Leu)
2g.178532138T>CCA349411620TTN,TTN-AS1c.96773A>G (p.Gln32258Arg)
c.77858A>G (p.Gln25953Arg)
c.77657A>G (p.Gln25886Arg)
c.77282A>G (p.Gln25761Arg)
c.104477A>G (p.Gln34826Arg)
c.99554A>G (p.Gln33185Arg)
n.446+8502T>C
n.220-3594T>C
c.103574A>G (p.Gln34525Arg)
c.77468A>G (p.Gln25823Arg)
c.77327A>G (p.Gln25776Arg)
c.103370A>G (p.Gln34457Arg)
c.98768A>G (p.Gln32923Arg)
c.98765A>G (p.Gln32922Arg)
c.95807A>G (p.Gln31936Arg)
c.77423A>G (p.Gln25808Arg)
c.98918A>G (p.Gln32973Arg)
c.98915A>G (p.Gln32972Arg)
c.98348A>G (p.Gln32783Arg)
c.95690A>G (p.Gln31897Arg)
c.95609A>G (p.Gln31870Arg)
c.77372A>G (p.Gln25791Arg)
c.67226A>G (p.Gln22409Arg)
 ClinVar dbSNP
2g.178532138T>GCA349411621TTN,TTN-AS1c.96773A>C (p.Gln32258Pro)
c.77858A>C (p.Gln25953Pro)
c.77657A>C (p.Gln25886Pro)
c.77282A>C (p.Gln25761Pro)
c.104477A>C (p.Gln34826Pro)
c.99554A>C (p.Gln33185Pro)
n.446+8502T>G
n.220-3594T>G
c.103574A>C (p.Gln34525Pro)
c.77468A>C (p.Gln25823Pro)
c.77327A>C (p.Gln25776Pro)
c.103370A>C (p.Gln34457Pro)
c.98768A>C (p.Gln32923Pro)
c.98765A>C (p.Gln32922Pro)
c.95807A>C (p.Gln31936Pro)
c.77423A>C (p.Gln25808Pro)
c.98918A>C (p.Gln32973Pro)
c.98915A>C (p.Gln32972Pro)
c.98348A>C (p.Gln32783Pro)
c.95690A>C (p.Gln31897Pro)
c.95609A>C (p.Gln31870Pro)
c.77372A>C (p.Gln25791Pro)
c.67226A>C (p.Gln22409Pro)
2g.178532139G>ACA349411623TTN,TTN-AS1c.96772C>T (p.Gln32258Ter)
c.77857C>T (p.Gln25953Ter)
c.77656C>T (p.Gln25886Ter)
c.77281C>T (p.Gln25761Ter)
c.104476C>T (p.Gln34826Ter)
c.99553C>T (p.Gln33185Ter)
n.446+8503G>A
n.220-3593G>A
c.103573C>T (p.Gln34525Ter)
c.77467C>T (p.Gln25823Ter)
c.77326C>T (p.Gln25776Ter)
c.103369C>T (p.Gln34457Ter)
c.98767C>T (p.Gln32923Ter)
c.98764C>T (p.Gln32922Ter)
c.95806C>T (p.Gln31936Ter)
c.77422C>T (p.Gln25808Ter)
c.98917C>T (p.Gln32973Ter)
c.98914C>T (p.Gln32972Ter)
c.98347C>T (p.Gln32783Ter)
c.95689C>T (p.Gln31897Ter)
c.95608C>T (p.Gln31870Ter)
c.77371C>T (p.Gln25791Ter)
c.67225C>T (p.Gln22409Ter)
2g.178532139G>CCA349411625TTN,TTN-AS1c.96772C>G (p.Gln32258Glu)
c.77857C>G (p.Gln25953Glu)
c.77656C>G (p.Gln25886Glu)
c.77281C>G (p.Gln25761Glu)
c.104476C>G (p.Gln34826Glu)
c.99553C>G (p.Gln33185Glu)
n.446+8503G>C
n.220-3593G>C
c.103573C>G (p.Gln34525Glu)
c.77467C>G (p.Gln25823Glu)
c.77326C>G (p.Gln25776Glu)
c.103369C>G (p.Gln34457Glu)
c.98767C>G (p.Gln32923Glu)
c.98764C>G (p.Gln32922Glu)
c.95806C>G (p.Gln31936Glu)
c.77422C>G (p.Gln25808Glu)
c.98917C>G (p.Gln32973Glu)
c.98914C>G (p.Gln32972Glu)
c.98347C>G (p.Gln32783Glu)
c.95689C>G (p.Gln31897Glu)
c.95608C>G (p.Gln31870Glu)
c.77371C>G (p.Gln25791Glu)
c.67225C>G (p.Gln22409Glu)
2g.178532139G=CA1310518096TTN,TTN-AS1c.96772C= (p.Gln32258=)
c.77857C= (p.Gln25953=)
c.77656C= (p.Gln25886=)
c.77281C= (p.Gln25761=)
c.104476C= (p.Gln34826=)
c.99553C= (p.Gln33185=)
n.446+8503G=
n.220-3593G=
c.103573C= (p.Gln34525=)
c.77467C= (p.Gln25823=)
c.77326C= (p.Gln25776=)
c.103369C= (p.Gln34457=)
c.98767C= (p.Gln32923=)
c.98764C= (p.Gln32922=)
c.95806C= (p.Gln31936=)
c.77422C= (p.Gln25808=)
c.98917C= (p.Gln32973=)
c.98914C= (p.Gln32972=)
c.98347C= (p.Gln32783=)
c.95689C= (p.Gln31897=)
c.95608C= (p.Gln31870=)
c.77371C= (p.Gln25791=)
c.67225C= (p.Gln22409=)
2g.178532139G>TCA60956200TTN,TTN-AS1c.96772C>A (p.Gln32258Lys)
c.77857C>A (p.Gln25953Lys)
c.77656C>A (p.Gln25886Lys)
c.77281C>A (p.Gln25761Lys)
c.104476C>A (p.Gln34826Lys)
c.99553C>A (p.Gln33185Lys)
n.446+8503G>T
n.220-3593G>T
c.103573C>A (p.Gln34525Lys)
c.77467C>A (p.Gln25823Lys)
c.77326C>A (p.Gln25776Lys)
c.103369C>A (p.Gln34457Lys)
c.98767C>A (p.Gln32923Lys)
c.98764C>A (p.Gln32922Lys)
c.95806C>A (p.Gln31936Lys)
c.77422C>A (p.Gln25808Lys)
c.98917C>A (p.Gln32973Lys)
c.98914C>A (p.Gln32972Lys)
c.98347C>A (p.Gln32783Lys)
c.95689C>A (p.Gln31897Lys)
c.95608C>A (p.Gln31870Lys)
c.77371C>A (p.Gln25791Lys)
c.67225C>A (p.Gln22409Lys)
 dbSNP
2g.178532140A=CA1310518097TTN,TTN-AS1c.96771T= (p.Ala32257=)
c.77856T= (p.Ala25952=)
c.77655T= (p.Ala25885=)
c.77280T= (p.Ala25760=)
c.104475T= (p.Ala34825=)
c.99552T= (p.Ala33184=)
n.446+8504A=
n.220-3592A=
c.103572T= (p.Ala34524=)
c.77466T= (p.Ala25822=)
c.77325T= (p.Ala25775=)
c.103368T= (p.Ala34456=)
c.98766T= (p.Ala32922=)
c.98763T= (p.Ala32921=)
c.95805T= (p.Ala31935=)
c.77421T= (p.Ala25807=)
c.98916T= (p.Ala32972=)
c.98913T= (p.Ala32971=)
c.98346T= (p.Ala32782=)
c.95688T= (p.Ala31896=)
c.95607T= (p.Ala31869=)
c.77370T= (p.Ala25790=)
c.67224T= (p.Ala22408=)
2g.178532140A>CCA430235894TTN,TTN-AS1c.96771T>G (p.Ala32257=)
c.77856T>G (p.Ala25952=)
c.77655T>G (p.Ala25885=)
c.77280T>G (p.Ala25760=)
c.104475T>G (p.Ala34825=)
c.99552T>G (p.Ala33184=)
n.446+8504A>C
n.220-3592A>C
c.103572T>G (p.Ala34524=)
c.77466T>G (p.Ala25822=)
c.77325T>G (p.Ala25775=)
c.103368T>G (p.Ala34456=)
c.98766T>G (p.Ala32922=)
c.98763T>G (p.Ala32921=)
c.95805T>G (p.Ala31935=)
c.77421T>G (p.Ala25807=)
c.98916T>G (p.Ala32972=)
c.98913T>G (p.Ala32971=)
c.98346T>G (p.Ala32782=)
c.95688T>G (p.Ala31896=)
c.95607T>G (p.Ala31869=)
c.77370T>G (p.Ala25790=)
c.67224T>G (p.Ala22408=)
2g.178532140A>GCA430235893TTN,TTN-AS1c.96771T>C (p.Ala32257=)
c.77856T>C (p.Ala25952=)
c.77655T>C (p.Ala25885=)
c.77280T>C (p.Ala25760=)
c.104475T>C (p.Ala34825=)
c.99552T>C (p.Ala33184=)
n.446+8504A>G
n.220-3592A>G
c.103572T>C (p.Ala34524=)
c.77466T>C (p.Ala25822=)
c.77325T>C (p.Ala25775=)
c.103368T>C (p.Ala34456=)
c.98766T>C (p.Ala32922=)
c.98763T>C (p.Ala32921=)
c.95805T>C (p.Ala31935=)
c.77421T>C (p.Ala25807=)
c.98916T>C (p.Ala32972=)
c.98913T>C (p.Ala32971=)
c.98346T>C (p.Ala32782=)
c.95688T>C (p.Ala31896=)
c.95607T>C (p.Ala31869=)
c.77370T>C (p.Ala25790=)
c.67224T>C (p.Ala22408=)
2g.178532140A>TCA60956203TTN,TTN-AS1c.96771T>A (p.Ala32257=)
c.77856T>A (p.Ala25952=)
c.77655T>A (p.Ala25885=)
c.77280T>A (p.Ala25760=)
c.104475T>A (p.Ala34825=)
c.99552T>A (p.Ala33184=)
n.446+8504A>T
n.220-3592A>T
c.103572T>A (p.Ala34524=)
c.77466T>A (p.Ala25822=)
c.77325T>A (p.Ala25775=)
c.103368T>A (p.Ala34456=)
c.98766T>A (p.Ala32922=)
c.98763T>A (p.Ala32921=)
c.95805T>A (p.Ala31935=)
c.77421T>A (p.Ala25807=)
c.98916T>A (p.Ala32972=)
c.98913T>A (p.Ala32971=)
c.98346T>A (p.Ala32782=)
c.95688T>A (p.Ala31896=)
c.95607T>A (p.Ala31869=)
c.77370T>A (p.Ala25790=)
c.67224T>A (p.Ala22408=)
 dbSNP
2g.178532141G>ACA349411629TTN,TTN-AS1c.96770C>T (p.Ala32257Val)
c.77855C>T (p.Ala25952Val)
c.77654C>T (p.Ala25885Val)
c.77279C>T (p.Ala25760Val)
c.104474C>T (p.Ala34825Val)
c.99551C>T (p.Ala33184Val)
n.446+8505G>A
n.220-3591G>A
c.103571C>T (p.Ala34524Val)
c.77465C>T (p.Ala25822Val)
c.77324C>T (p.Ala25775Val)
c.103367C>T (p.Ala34456Val)
c.98765C>T (p.Ala32922Val)
c.98762C>T (p.Ala32921Val)
c.95804C>T (p.Ala31935Val)
c.77420C>T (p.Ala25807Val)
c.98915C>T (p.Ala32972Val)
c.98912C>T (p.Ala32971Val)
c.98345C>T (p.Ala32782Val)
c.95687C>T (p.Ala31896Val)
c.95606C>T (p.Ala31869Val)
c.77369C>T (p.Ala25790Val)
c.67223C>T (p.Ala22408Val)
2g.178532141G>CCA349411628TTN,TTN-AS1c.96770C>G (p.Ala32257Gly)
c.77855C>G (p.Ala25952Gly)
c.77654C>G (p.Ala25885Gly)
c.77279C>G (p.Ala25760Gly)
c.104474C>G (p.Ala34825Gly)
c.99551C>G (p.Ala33184Gly)
n.446+8505G>C
n.220-3591G>C
c.103571C>G (p.Ala34524Gly)
c.77465C>G (p.Ala25822Gly)
c.77324C>G (p.Ala25775Gly)
c.103367C>G (p.Ala34456Gly)
c.98765C>G (p.Ala32922Gly)
c.98762C>G (p.Ala32921Gly)
c.95804C>G (p.Ala31935Gly)
c.77420C>G (p.Ala25807Gly)
c.98915C>G (p.Ala32972Gly)
c.98912C>G (p.Ala32971Gly)
c.98345C>G (p.Ala32782Gly)
c.95687C>G (p.Ala31896Gly)
c.95606C>G (p.Ala31869Gly)
c.77369C>G (p.Ala25790Gly)
c.67223C>G (p.Ala22408Gly)
 ClinVar dbSNP gnomAD v4
2g.178532141G=CA1310518098TTN,TTN-AS1c.96770C= (p.Ala32257=)
c.77855C= (p.Ala25952=)
c.77654C= (p.Ala25885=)
c.77279C= (p.Ala25760=)
c.104474C= (p.Ala34825=)
c.99551C= (p.Ala33184=)
n.446+8505G=
n.220-3591G=
c.103571C= (p.Ala34524=)
c.77465C= (p.Ala25822=)
c.77324C= (p.Ala25775=)
c.103367C= (p.Ala34456=)
c.98765C= (p.Ala32922=)
c.98762C= (p.Ala32921=)
c.95804C= (p.Ala31935=)
c.77420C= (p.Ala25807=)
c.98915C= (p.Ala32972=)
c.98912C= (p.Ala32971=)
c.98345C= (p.Ala32782=)
c.95687C= (p.Ala31896=)
c.95606C= (p.Ala31869=)
c.77369C= (p.Ala25790=)
c.67223C= (p.Ala22408=)
2g.178532141G>TCA311181TTN,TTN-AS1c.96770C>A (p.Ala32257Asp)
c.77855C>A (p.Ala25952Asp)
c.77654C>A (p.Ala25885Asp)
c.77279C>A (p.Ala25760Asp)
c.104474C>A (p.Ala34825Asp)
c.99551C>A (p.Ala33184Asp)
n.446+8505G>T
n.220-3591G>T
c.103571C>A (p.Ala34524Asp)
c.77465C>A (p.Ala25822Asp)
c.77324C>A (p.Ala25775Asp)
c.103367C>A (p.Ala34456Asp)
c.98765C>A (p.Ala32922Asp)
c.98762C>A (p.Ala32921Asp)
c.95804C>A (p.Ala31935Asp)
c.77420C>A (p.Ala25807Asp)
c.98915C>A (p.Ala32972Asp)
c.98912C>A (p.Ala32971Asp)
c.98345C>A (p.Ala32782Asp)
c.95687C>A (p.Ala31896Asp)
c.95606C>A (p.Ala31869Asp)
c.77369C>A (p.Ala25790Asp)
c.67223C>A (p.Ala22408Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178532142C>ACA349411631TTN,TTN-AS1c.96769G>T (p.Ala32257Ser)
c.77854G>T (p.Ala25952Ser)
c.77653G>T (p.Ala25885Ser)
c.77278G>T (p.Ala25760Ser)
c.104473G>T (p.Ala34825Ser)
c.99550G>T (p.Ala33184Ser)
n.446+8506C>A
n.220-3590C>A
c.103570G>T (p.Ala34524Ser)
c.77464G>T (p.Ala25822Ser)
c.77323G>T (p.Ala25775Ser)
c.103366G>T (p.Ala34456Ser)
c.98764G>T (p.Ala32922Ser)
c.98761G>T (p.Ala32921Ser)
c.95803G>T (p.Ala31935Ser)
c.77419G>T (p.Ala25807Ser)
c.98914G>T (p.Ala32972Ser)
c.98911G>T (p.Ala32971Ser)
c.98344G>T (p.Ala32782Ser)
c.95686G>T (p.Ala31896Ser)
c.95605G>T (p.Ala31869Ser)
c.77368G>T (p.Ala25790Ser)
c.67222G>T (p.Ala22408Ser)
2g.178532142C>GCA349411633TTN,TTN-AS1c.96769G>C (p.Ala32257Pro)
c.77854G>C (p.Ala25952Pro)
c.77653G>C (p.Ala25885Pro)
c.77278G>C (p.Ala25760Pro)
c.104473G>C (p.Ala34825Pro)
c.99550G>C (p.Ala33184Pro)
n.446+8506C>G
n.220-3590C>G
c.103570G>C (p.Ala34524Pro)
c.77464G>C (p.Ala25822Pro)
c.77323G>C (p.Ala25775Pro)
c.103366G>C (p.Ala34456Pro)
c.98764G>C (p.Ala32922Pro)
c.98761G>C (p.Ala32921Pro)
c.95803G>C (p.Ala31935Pro)
c.77419G>C (p.Ala25807Pro)
c.98914G>C (p.Ala32972Pro)
c.98911G>C (p.Ala32971Pro)
c.98344G>C (p.Ala32782Pro)
c.95686G>C (p.Ala31896Pro)
c.95605G>C (p.Ala31869Pro)
c.77368G>C (p.Ala25790Pro)
c.67222G>C (p.Ala22408Pro)
2g.178532142C>TCA349411634TTN,TTN-AS1c.96769G>A (p.Ala32257Thr)
c.77854G>A (p.Ala25952Thr)
c.77653G>A (p.Ala25885Thr)
c.77278G>A (p.Ala25760Thr)
c.104473G>A (p.Ala34825Thr)
c.99550G>A (p.Ala33184Thr)
n.446+8506C>T
n.220-3590C>T
c.103570G>A (p.Ala34524Thr)
c.77464G>A (p.Ala25822Thr)
c.77323G>A (p.Ala25775Thr)
c.103366G>A (p.Ala34456Thr)
c.98764G>A (p.Ala32922Thr)
c.98761G>A (p.Ala32921Thr)
c.95803G>A (p.Ala31935Thr)
c.77419G>A (p.Ala25807Thr)
c.98914G>A (p.Ala32972Thr)
c.98911G>A (p.Ala32971Thr)
c.98344G>A (p.Ala32782Thr)
c.95686G>A (p.Ala31896Thr)
c.95605G>A (p.Ala31869Thr)
c.77368G>A (p.Ala25790Thr)
c.67222G>A (p.Ala22408Thr)
2g.178532143A=CA1310518099TTN,TTN-AS1c.96768T= (p.His32256=)
c.77853T= (p.His25951=)
c.77652T= (p.His25884=)
c.77277T= (p.His25759=)
c.104472T= (p.His34824=)
c.99549T= (p.His33183=)
n.446+8507A=
n.220-3589A=
c.103569T= (p.His34523=)
c.77463T= (p.His25821=)
c.77322T= (p.His25774=)
c.103365T= (p.His34455=)
c.98763T= (p.His32921=)
c.98760T= (p.His32920=)
c.95802T= (p.His31934=)
c.77418T= (p.His25806=)
c.98913T= (p.His32971=)
c.98910T= (p.His32970=)
c.98343T= (p.His32781=)
c.95685T= (p.His31895=)
c.95604T= (p.His31868=)
c.77367T= (p.His25789=)
c.67221T= (p.His22407=)
2g.178532143A>CCA349411636TTN,TTN-AS1c.96768T>G (p.His32256Gln)
c.77853T>G (p.His25951Gln)
c.77652T>G (p.His25884Gln)
c.77277T>G (p.His25759Gln)
c.104472T>G (p.His34824Gln)
c.99549T>G (p.His33183Gln)
n.446+8507A>C
n.220-3589A>C
c.103569T>G (p.His34523Gln)
c.77463T>G (p.His25821Gln)
c.77322T>G (p.His25774Gln)
c.103365T>G (p.His34455Gln)
c.98763T>G (p.His32921Gln)
c.98760T>G (p.His32920Gln)
c.95802T>G (p.His31934Gln)
c.77418T>G (p.His25806Gln)
c.98913T>G (p.His32971Gln)
c.98910T>G (p.His32970Gln)
c.98343T>G (p.His32781Gln)
c.95685T>G (p.His31895Gln)
c.95604T>G (p.His31868Gln)
c.77367T>G (p.His25789Gln)
c.67221T>G (p.His22407Gln)
2g.178532143A>GCA1985419TTN,TTN-AS1c.96768T>C (p.His32256=)
c.77853T>C (p.His25951=)
c.77652T>C (p.His25884=)
c.77277T>C (p.His25759=)
c.104472T>C (p.His34824=)
c.99549T>C (p.His33183=)
n.446+8507A>G
n.220-3589A>G
c.103569T>C (p.His34523=)
c.77463T>C (p.His25821=)
c.77322T>C (p.His25774=)
c.103365T>C (p.His34455=)
c.98763T>C (p.His32921=)
c.98760T>C (p.His32920=)
c.95802T>C (p.His31934=)
c.77418T>C (p.His25806=)
c.98913T>C (p.His32971=)
c.98910T>C (p.His32970=)
c.98343T>C (p.His32781=)
c.95685T>C (p.His31895=)
c.95604T>C (p.His31868=)
c.77367T>C (p.His25789=)
c.67221T>C (p.His22407=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532143A>TCA349411638TTN,TTN-AS1c.96768T>A (p.His32256Gln)
c.77853T>A (p.His25951Gln)
c.77652T>A (p.His25884Gln)
c.77277T>A (p.His25759Gln)
c.104472T>A (p.His34824Gln)
c.99549T>A (p.His33183Gln)
n.446+8507A>T
n.220-3589A>T
c.103569T>A (p.His34523Gln)
c.77463T>A (p.His25821Gln)
c.77322T>A (p.His25774Gln)
c.103365T>A (p.His34455Gln)
c.98763T>A (p.His32921Gln)
c.98760T>A (p.His32920Gln)
c.95802T>A (p.His31934Gln)
c.77418T>A (p.His25806Gln)
c.98913T>A (p.His32971Gln)
c.98910T>A (p.His32970Gln)
c.98343T>A (p.His32781Gln)
c.95685T>A (p.His31895Gln)
c.95604T>A (p.His31868Gln)
c.77367T>A (p.His25789Gln)
c.67221T>A (p.His22407Gln)
2g.178532144T>ACA349411643TTN,TTN-AS1c.96767A>T (p.His32256Leu)
c.77852A>T (p.His25951Leu)
c.77651A>T (p.His25884Leu)
c.77276A>T (p.His25759Leu)
c.104471A>T (p.His34824Leu)
c.99548A>T (p.His33183Leu)
n.446+8508T>A
n.220-3588T>A
c.103568A>T (p.His34523Leu)
c.77462A>T (p.His25821Leu)
c.77321A>T (p.His25774Leu)
c.103364A>T (p.His34455Leu)
c.98762A>T (p.His32921Leu)
c.98759A>T (p.His32920Leu)
c.95801A>T (p.His31934Leu)
c.77417A>T (p.His25806Leu)
c.98912A>T (p.His32971Leu)
c.98909A>T (p.His32970Leu)
c.98342A>T (p.His32781Leu)
c.95684A>T (p.His31895Leu)
c.95603A>T (p.His31868Leu)
c.77366A>T (p.His25789Leu)
c.67220A>T (p.His22407Leu)
2g.178532144T>CCA1985420TTN,TTN-AS1c.96767A>G (p.His32256Arg)
c.77852A>G (p.His25951Arg)
c.77651A>G (p.His25884Arg)
c.77276A>G (p.His25759Arg)
c.104471A>G (p.His34824Arg)
c.99548A>G (p.His33183Arg)
n.446+8508T>C
n.220-3588T>C
c.103568A>G (p.His34523Arg)
c.77462A>G (p.His25821Arg)
c.77321A>G (p.His25774Arg)
c.103364A>G (p.His34455Arg)
c.98762A>G (p.His32921Arg)
c.98759A>G (p.His32920Arg)
c.95801A>G (p.His31934Arg)
c.77417A>G (p.His25806Arg)
c.98912A>G (p.His32971Arg)
c.98909A>G (p.His32970Arg)
c.98342A>G (p.His32781Arg)
c.95684A>G (p.His31895Arg)
c.95603A>G (p.His31868Arg)
c.77366A>G (p.His25789Arg)
c.67220A>G (p.His22407Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532144T>GCA349411642TTN,TTN-AS1c.96767A>C (p.His32256Pro)
c.77852A>C (p.His25951Pro)
c.77651A>C (p.His25884Pro)
c.77276A>C (p.His25759Pro)
c.104471A>C (p.His34824Pro)
c.99548A>C (p.His33183Pro)
n.446+8508T>G
n.220-3588T>G
c.103568A>C (p.His34523Pro)
c.77462A>C (p.His25821Pro)
c.77321A>C (p.His25774Pro)
c.103364A>C (p.His34455Pro)
c.98762A>C (p.His32921Pro)
c.98759A>C (p.His32920Pro)
c.95801A>C (p.His31934Pro)
c.77417A>C (p.His25806Pro)
c.98912A>C (p.His32971Pro)
c.98909A>C (p.His32970Pro)
c.98342A>C (p.His32781Pro)
c.95684A>C (p.His31895Pro)
c.95603A>C (p.His31868Pro)
c.77366A>C (p.His25789Pro)
c.67220A>C (p.His22407Pro)
2g.178532144T=CA1310518100TTN,TTN-AS1c.96767A= (p.His32256=)
c.77852A= (p.His25951=)
c.77651A= (p.His25884=)
c.77276A= (p.His25759=)
c.104471A= (p.His34824=)
c.99548A= (p.His33183=)
n.446+8508T=
n.220-3588T=
c.103568A= (p.His34523=)
c.77462A= (p.His25821=)
c.77321A= (p.His25774=)
c.103364A= (p.His34455=)
c.98762A= (p.His32921=)
c.98759A= (p.His32920=)
c.95801A= (p.His31934=)
c.77417A= (p.His25806=)
c.98912A= (p.His32971=)
c.98909A= (p.His32970=)
c.98342A= (p.His32781=)
c.95684A= (p.His31895=)
c.95603A= (p.His31868=)
c.77366A= (p.His25789=)
c.67220A= (p.His22407=)
2g.178532145G>ACA349411644TTN,TTN-AS1c.96766C>T (p.His32256Tyr)
c.77851C>T (p.His25951Tyr)
c.77650C>T (p.His25884Tyr)
c.77275C>T (p.His25759Tyr)
c.104470C>T (p.His34824Tyr)
c.99547C>T (p.His33183Tyr)
n.446+8509G>A
n.220-3587G>A
c.103567C>T (p.His34523Tyr)
c.77461C>T (p.His25821Tyr)
c.77320C>T (p.His25774Tyr)
c.103363C>T (p.His34455Tyr)
c.98761C>T (p.His32921Tyr)
c.98758C>T (p.His32920Tyr)
c.95800C>T (p.His31934Tyr)
c.77416C>T (p.His25806Tyr)
c.98911C>T (p.His32971Tyr)
c.98908C>T (p.His32970Tyr)
c.98341C>T (p.His32781Tyr)
c.95683C>T (p.His31895Tyr)
c.95602C>T (p.His31868Tyr)
c.77365C>T (p.His25789Tyr)
c.67219C>T (p.His22407Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178532145G>CCA349411646TTN,TTN-AS1c.96766C>G (p.His32256Asp)
c.77851C>G (p.His25951Asp)
c.77650C>G (p.His25884Asp)
c.77275C>G (p.His25759Asp)
c.104470C>G (p.His34824Asp)
c.99547C>G (p.His33183Asp)
n.446+8509G>C
n.220-3587G>C
c.103567C>G (p.His34523Asp)
c.77461C>G (p.His25821Asp)
c.77320C>G (p.His25774Asp)
c.103363C>G (p.His34455Asp)
c.98761C>G (p.His32921Asp)
c.98758C>G (p.His32920Asp)
c.95800C>G (p.His31934Asp)
c.77416C>G (p.His25806Asp)
c.98911C>G (p.His32971Asp)
c.98908C>G (p.His32970Asp)
c.98341C>G (p.His32781Asp)
c.95683C>G (p.His31895Asp)
c.95602C>G (p.His31868Asp)
c.77365C>G (p.His25789Asp)
c.67219C>G (p.His22407Asp)
2g.178532145G=CA1310518101TTN,TTN-AS1c.96766C= (p.His32256=)
c.77851C= (p.His25951=)
c.77650C= (p.His25884=)
c.77275C= (p.His25759=)
c.104470C= (p.His34824=)
c.99547C= (p.His33183=)
n.446+8509G=
n.220-3587G=
c.103567C= (p.His34523=)
c.77461C= (p.His25821=)
c.77320C= (p.His25774=)
c.103363C= (p.His34455=)
c.98761C= (p.His32921=)
c.98758C= (p.His32920=)
c.95800C= (p.His31934=)
c.77416C= (p.His25806=)
c.98911C= (p.His32971=)
c.98908C= (p.His32970=)
c.98341C= (p.His32781=)
c.95683C= (p.His31895=)
c.95602C= (p.His31868=)
c.77365C= (p.His25789=)
c.67219C= (p.His22407=)
2g.178532145G>TCA349411647TTN,TTN-AS1c.96766C>A (p.His32256Asn)
c.77851C>A (p.His25951Asn)
c.77650C>A (p.His25884Asn)
c.77275C>A (p.His25759Asn)
c.104470C>A (p.His34824Asn)
c.99547C>A (p.His33183Asn)
n.446+8509G>T
n.220-3587G>T
c.103567C>A (p.His34523Asn)
c.77461C>A (p.His25821Asn)
c.77320C>A (p.His25774Asn)
c.103363C>A (p.His34455Asn)
c.98761C>A (p.His32921Asn)
c.98758C>A (p.His32920Asn)
c.95800C>A (p.His31934Asn)
c.77416C>A (p.His25806Asn)
c.98911C>A (p.His32971Asn)
c.98908C>A (p.His32970Asn)
c.98341C>A (p.His32781Asn)
c.95683C>A (p.His31895Asn)
c.95602C>A (p.His31868Asn)
c.77365C>A (p.His25789Asn)
c.67219C>A (p.His22407Asn)
 COSMIC COSMIC COSMIC COSMIC
2g.178532146T>ACA349411649TTN,TTN-AS1c.96765A>T (p.Lys32255Asn)
c.77850A>T (p.Lys25950Asn)
c.77649A>T (p.Lys25883Asn)
c.77274A>T (p.Lys25758Asn)
c.104469A>T (p.Lys34823Asn)
c.99546A>T (p.Lys33182Asn)
n.446+8510T>A
n.220-3586T>A
c.103566A>T (p.Lys34522Asn)
c.77460A>T (p.Lys25820Asn)
c.77319A>T (p.Lys25773Asn)
c.103362A>T (p.Lys34454Asn)
c.98760A>T (p.Lys32920Asn)
c.98757A>T (p.Lys32919Asn)
c.95799A>T (p.Lys31933Asn)
c.77415A>T (p.Lys25805Asn)
c.98910A>T (p.Lys32970Asn)
c.98907A>T (p.Lys32969Asn)
c.98340A>T (p.Lys32780Asn)
c.95682A>T (p.Lys31894Asn)
c.95601A>T (p.Lys31867Asn)
c.77364A>T (p.Lys25788Asn)
c.67218A>T (p.Lys22406Asn)
2g.178532146T>CCA430235895TTN,TTN-AS1c.96765A>G (p.Lys32255=)
c.77850A>G (p.Lys25950=)
c.77649A>G (p.Lys25883=)
c.77274A>G (p.Lys25758=)
c.104469A>G (p.Lys34823=)
c.99546A>G (p.Lys33182=)
n.446+8510T>C
n.220-3586T>C
c.103566A>G (p.Lys34522=)
c.77460A>G (p.Lys25820=)
c.77319A>G (p.Lys25773=)
c.103362A>G (p.Lys34454=)
c.98760A>G (p.Lys32920=)
c.98757A>G (p.Lys32919=)
c.95799A>G (p.Lys31933=)
c.77415A>G (p.Lys25805=)
c.98910A>G (p.Lys32970=)
c.98907A>G (p.Lys32969=)
c.98340A>G (p.Lys32780=)
c.95682A>G (p.Lys31894=)
c.95601A>G (p.Lys31867=)
c.77364A>G (p.Lys25788=)
c.67218A>G (p.Lys22406=)
2g.178532146T>GCA349411651TTN,TTN-AS1c.96765A>C (p.Lys32255Asn)
c.77850A>C (p.Lys25950Asn)
c.77649A>C (p.Lys25883Asn)
c.77274A>C (p.Lys25758Asn)
c.104469A>C (p.Lys34823Asn)
c.99546A>C (p.Lys33182Asn)
n.446+8510T>G
n.220-3586T>G
c.103566A>C (p.Lys34522Asn)
c.77460A>C (p.Lys25820Asn)
c.77319A>C (p.Lys25773Asn)
c.103362A>C (p.Lys34454Asn)
c.98760A>C (p.Lys32920Asn)
c.98757A>C (p.Lys32919Asn)
c.95799A>C (p.Lys31933Asn)
c.77415A>C (p.Lys25805Asn)
c.98910A>C (p.Lys32970Asn)
c.98907A>C (p.Lys32969Asn)
c.98340A>C (p.Lys32780Asn)
c.95682A>C (p.Lys31894Asn)
c.95601A>C (p.Lys31867Asn)
c.77364A>C (p.Lys25788Asn)
c.67218A>C (p.Lys22406Asn)
2g.178532147T>ACA349411655TTN,TTN-AS1c.96764A>T (p.Lys32255Ile)
c.77849A>T (p.Lys25950Ile)
c.77648A>T (p.Lys25883Ile)
c.77273A>T (p.Lys25758Ile)
c.104468A>T (p.Lys34823Ile)
c.99545A>T (p.Lys33182Ile)
n.446+8511T>A
n.220-3585T>A
c.103565A>T (p.Lys34522Ile)
c.77459A>T (p.Lys25820Ile)
c.77318A>T (p.Lys25773Ile)
c.103361A>T (p.Lys34454Ile)
c.98759A>T (p.Lys32920Ile)
c.98756A>T (p.Lys32919Ile)
c.95798A>T (p.Lys31933Ile)
c.77414A>T (p.Lys25805Ile)
c.98909A>T (p.Lys32970Ile)
c.98906A>T (p.Lys32969Ile)
c.98339A>T (p.Lys32780Ile)
c.95681A>T (p.Lys31894Ile)
c.95600A>T (p.Lys31867Ile)
c.77363A>T (p.Lys25788Ile)
c.67217A>T (p.Lys22406Ile)
2g.178532147T>CCA349411653TTN,TTN-AS1c.96764A>G (p.Lys32255Arg)
c.77849A>G (p.Lys25950Arg)
c.77648A>G (p.Lys25883Arg)
c.77273A>G (p.Lys25758Arg)
c.104468A>G (p.Lys34823Arg)
c.99545A>G (p.Lys33182Arg)
n.446+8511T>C
n.220-3585T>C
c.103565A>G (p.Lys34522Arg)
c.77459A>G (p.Lys25820Arg)
c.77318A>G (p.Lys25773Arg)
c.103361A>G (p.Lys34454Arg)
c.98759A>G (p.Lys32920Arg)
c.98756A>G (p.Lys32919Arg)
c.95798A>G (p.Lys31933Arg)
c.77414A>G (p.Lys25805Arg)
c.98909A>G (p.Lys32970Arg)
c.98906A>G (p.Lys32969Arg)
c.98339A>G (p.Lys32780Arg)
c.95681A>G (p.Lys31894Arg)
c.95600A>G (p.Lys31867Arg)
c.77363A>G (p.Lys25788Arg)
c.67217A>G (p.Lys22406Arg)
2g.178532147T>GCA349411654TTN,TTN-AS1c.96764A>C (p.Lys32255Thr)
c.77849A>C (p.Lys25950Thr)
c.77648A>C (p.Lys25883Thr)
c.77273A>C (p.Lys25758Thr)
c.104468A>C (p.Lys34823Thr)
c.99545A>C (p.Lys33182Thr)
n.446+8511T>G
n.220-3585T>G
c.103565A>C (p.Lys34522Thr)
c.77459A>C (p.Lys25820Thr)
c.77318A>C (p.Lys25773Thr)
c.103361A>C (p.Lys34454Thr)
c.98759A>C (p.Lys32920Thr)
c.98756A>C (p.Lys32919Thr)
c.95798A>C (p.Lys31933Thr)
c.77414A>C (p.Lys25805Thr)
c.98909A>C (p.Lys32970Thr)
c.98906A>C (p.Lys32969Thr)
c.98339A>C (p.Lys32780Thr)
c.95681A>C (p.Lys31894Thr)
c.95600A>C (p.Lys31867Thr)
c.77363A>C (p.Lys25788Thr)
c.67217A>C (p.Lys22406Thr)
2g.178532148T>ACA349411657TTN,TTN-AS1c.96763A>T (p.Lys32255Ter)
c.77848A>T (p.Lys25950Ter)
c.77647A>T (p.Lys25883Ter)
c.77272A>T (p.Lys25758Ter)
c.104467A>T (p.Lys34823Ter)
c.99544A>T (p.Lys33182Ter)
n.446+8512T>A
n.220-3584T>A
c.103564A>T (p.Lys34522Ter)
c.77458A>T (p.Lys25820Ter)
c.77317A>T (p.Lys25773Ter)
c.103360A>T (p.Lys34454Ter)
c.98758A>T (p.Lys32920Ter)
c.98755A>T (p.Lys32919Ter)
c.95797A>T (p.Lys31933Ter)
c.77413A>T (p.Lys25805Ter)
c.98908A>T (p.Lys32970Ter)
c.98905A>T (p.Lys32969Ter)
c.98338A>T (p.Lys32780Ter)
c.95680A>T (p.Lys31894Ter)
c.95599A>T (p.Lys31867Ter)
c.77362A>T (p.Lys25788Ter)
c.67216A>T (p.Lys22406Ter)
2g.178532148T>CCA349411659TTN,TTN-AS1c.96763A>G (p.Lys32255Glu)
c.77848A>G (p.Lys25950Glu)
c.77647A>G (p.Lys25883Glu)
c.77272A>G (p.Lys25758Glu)
c.104467A>G (p.Lys34823Glu)
c.99544A>G (p.Lys33182Glu)
n.446+8512T>C
n.220-3584T>C
c.103564A>G (p.Lys34522Glu)
c.77458A>G (p.Lys25820Glu)
c.77317A>G (p.Lys25773Glu)
c.103360A>G (p.Lys34454Glu)
c.98758A>G (p.Lys32920Glu)
c.98755A>G (p.Lys32919Glu)
c.95797A>G (p.Lys31933Glu)
c.77413A>G (p.Lys25805Glu)
c.98908A>G (p.Lys32970Glu)
c.98905A>G (p.Lys32969Glu)
c.98338A>G (p.Lys32780Glu)
c.95680A>G (p.Lys31894Glu)
c.95599A>G (p.Lys31867Glu)
c.77362A>G (p.Lys25788Glu)
c.67216A>G (p.Lys22406Glu)
2g.178532148T>GCA349411661TTN,TTN-AS1c.96763A>C (p.Lys32255Gln)
c.77848A>C (p.Lys25950Gln)
c.77647A>C (p.Lys25883Gln)
c.77272A>C (p.Lys25758Gln)
c.104467A>C (p.Lys34823Gln)
c.99544A>C (p.Lys33182Gln)
n.446+8512T>G
n.220-3584T>G
c.103564A>C (p.Lys34522Gln)
c.77458A>C (p.Lys25820Gln)
c.77317A>C (p.Lys25773Gln)
c.103360A>C (p.Lys34454Gln)
c.98758A>C (p.Lys32920Gln)
c.98755A>C (p.Lys32919Gln)
c.95797A>C (p.Lys31933Gln)
c.77413A>C (p.Lys25805Gln)
c.98908A>C (p.Lys32970Gln)
c.98905A>C (p.Lys32969Gln)
c.98338A>C (p.Lys32780Gln)
c.95680A>C (p.Lys31894Gln)
c.95599A>C (p.Lys31867Gln)
c.77362A>C (p.Lys25788Gln)
c.67216A>C (p.Lys22406Gln)
 gnomAD v4
2g.178532149T>ACA430235896TTN,TTN-AS1c.96762A>T (p.Ser32254=)
c.77847A>T (p.Ser25949=)
c.77646A>T (p.Ser25882=)
c.77271A>T (p.Ser25757=)
c.104466A>T (p.Ser34822=)
c.99543A>T (p.Ser33181=)
n.446+8513T>A
n.220-3583T>A
c.103563A>T (p.Ser34521=)
c.77457A>T (p.Ser25819=)
c.77316A>T (p.Ser25772=)
c.103359A>T (p.Ser34453=)
c.98757A>T (p.Ser32919=)
c.98754A>T (p.Ser32918=)
c.95796A>T (p.Ser31932=)
c.77412A>T (p.Ser25804=)
c.98907A>T (p.Ser32969=)
c.98904A>T (p.Ser32968=)
c.98337A>T (p.Ser32779=)
c.95679A>T (p.Ser31893=)
c.95598A>T (p.Ser31866=)
c.77361A>T (p.Ser25787=)
c.67215A>T (p.Ser22405=)
2g.178532149T>CCA430235897TTN,TTN-AS1c.96762A>G (p.Ser32254=)
c.77847A>G (p.Ser25949=)
c.77646A>G (p.Ser25882=)
c.77271A>G (p.Ser25757=)
c.104466A>G (p.Ser34822=)
c.99543A>G (p.Ser33181=)
n.446+8513T>C
n.220-3583T>C
c.103563A>G (p.Ser34521=)
c.77457A>G (p.Ser25819=)
c.77316A>G (p.Ser25772=)
c.103359A>G (p.Ser34453=)
c.98757A>G (p.Ser32919=)
c.98754A>G (p.Ser32918=)
c.95796A>G (p.Ser31932=)
c.77412A>G (p.Ser25804=)
c.98907A>G (p.Ser32969=)
c.98904A>G (p.Ser32968=)
c.98337A>G (p.Ser32779=)
c.95679A>G (p.Ser31893=)
c.95598A>G (p.Ser31866=)
c.77361A>G (p.Ser25787=)
c.67215A>G (p.Ser22405=)
 ClinVar
2g.178532149T>GCA430235898TTN,TTN-AS1c.96762A>C (p.Ser32254=)
c.77847A>C (p.Ser25949=)
c.77646A>C (p.Ser25882=)
c.77271A>C (p.Ser25757=)
c.104466A>C (p.Ser34822=)
c.99543A>C (p.Ser33181=)
n.446+8513T>G
n.220-3583T>G
c.103563A>C (p.Ser34521=)
c.77457A>C (p.Ser25819=)
c.77316A>C (p.Ser25772=)
c.103359A>C (p.Ser34453=)
c.98757A>C (p.Ser32919=)
c.98754A>C (p.Ser32918=)
c.95796A>C (p.Ser31932=)
c.77412A>C (p.Ser25804=)
c.98907A>C (p.Ser32969=)
c.98904A>C (p.Ser32968=)
c.98337A>C (p.Ser32779=)
c.95679A>C (p.Ser31893=)
c.95598A>C (p.Ser31866=)
c.77361A>C (p.Ser25787=)
c.67215A>C (p.Ser22405=)
2g.178532150G>ACA1985421TTN,TTN-AS1c.96761C>T (p.Ser32254Leu)
c.77846C>T (p.Ser25949Leu)
c.77645C>T (p.Ser25882Leu)
c.77270C>T (p.Ser25757Leu)
c.104465C>T (p.Ser34822Leu)
c.99542C>T (p.Ser33181Leu)
n.446+8514G>A
n.220-3582G>A
c.103562C>T (p.Ser34521Leu)
c.77456C>T (p.Ser25819Leu)
c.77315C>T (p.Ser25772Leu)
c.103358C>T (p.Ser34453Leu)
c.98756C>T (p.Ser32919Leu)
c.98753C>T (p.Ser32918Leu)
c.95795C>T (p.Ser31932Leu)
c.77411C>T (p.Ser25804Leu)
c.98906C>T (p.Ser32969Leu)
c.98903C>T (p.Ser32968Leu)
c.98336C>T (p.Ser32779Leu)
c.95678C>T (p.Ser31893Leu)
c.95597C>T (p.Ser31866Leu)
c.77360C>T (p.Ser25787Leu)
c.67214C>T (p.Ser22405Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178532150G>CCA349411664TTN,TTN-AS1c.96761C>G (p.Ser32254Ter)
c.77846C>G (p.Ser25949Ter)
c.77645C>G (p.Ser25882Ter)
c.77270C>G (p.Ser25757Ter)
c.104465C>G (p.Ser34822Ter)
c.99542C>G (p.Ser33181Ter)
n.446+8514G>C
n.220-3582G>C
c.103562C>G (p.Ser34521Ter)
c.77456C>G (p.Ser25819Ter)
c.77315C>G (p.Ser25772Ter)
c.103358C>G (p.Ser34453Ter)
c.98756C>G (p.Ser32919Ter)
c.98753C>G (p.Ser32918Ter)
c.95795C>G (p.Ser31932Ter)
c.77411C>G (p.Ser25804Ter)
c.98906C>G (p.Ser32969Ter)
c.98903C>G (p.Ser32968Ter)
c.98336C>G (p.Ser32779Ter)
c.95678C>G (p.Ser31893Ter)
c.95597C>G (p.Ser31866Ter)
c.77360C>G (p.Ser25787Ter)
c.67214C>G (p.Ser22405Ter)
2g.178532150G=CA1310518102TTN,TTN-AS1c.96761C= (p.Ser32254=)
c.77846C= (p.Ser25949=)
c.77645C= (p.Ser25882=)
c.77270C= (p.Ser25757=)
c.104465C= (p.Ser34822=)
c.99542C= (p.Ser33181=)
n.446+8514G=
n.220-3582G=
c.103562C= (p.Ser34521=)
c.77456C= (p.Ser25819=)
c.77315C= (p.Ser25772=)
c.103358C= (p.Ser34453=)
c.98756C= (p.Ser32919=)
c.98753C= (p.Ser32918=)
c.95795C= (p.Ser31932=)
c.77411C= (p.Ser25804=)
c.98906C= (p.Ser32969=)
c.98903C= (p.Ser32968=)
c.98336C= (p.Ser32779=)
c.95678C= (p.Ser31893=)
c.95597C= (p.Ser31866=)
c.77360C= (p.Ser25787=)
c.67214C= (p.Ser22405=)
2g.178532150G>TCA349411665TTN,TTN-AS1c.96761C>A (p.Ser32254Ter)
c.77846C>A (p.Ser25949Ter)
c.77645C>A (p.Ser25882Ter)
c.77270C>A (p.Ser25757Ter)
c.104465C>A (p.Ser34822Ter)
c.99542C>A (p.Ser33181Ter)
n.446+8514G>T
n.220-3582G>T
c.103562C>A (p.Ser34521Ter)
c.77456C>A (p.Ser25819Ter)
c.77315C>A (p.Ser25772Ter)
c.103358C>A (p.Ser34453Ter)
c.98756C>A (p.Ser32919Ter)
c.98753C>A (p.Ser32918Ter)
c.95795C>A (p.Ser31932Ter)
c.77411C>A (p.Ser25804Ter)
c.98906C>A (p.Ser32969Ter)
c.98903C>A (p.Ser32968Ter)
c.98336C>A (p.Ser32779Ter)
c.95678C>A (p.Ser31893Ter)
c.95597C>A (p.Ser31866Ter)
c.77360C>A (p.Ser25787Ter)
c.67214C>A (p.Ser22405Ter)
2g.178532151A=CA1310518103TTN,TTN-AS1c.96760T= (p.Ser32254=)
c.77845T= (p.Ser25949=)
c.77644T= (p.Ser25882=)
c.77269T= (p.Ser25757=)
c.104464T= (p.Ser34822=)
c.99541T= (p.Ser33181=)
n.446+8515A=
n.220-3581A=
c.103561T= (p.Ser34521=)
c.77455T= (p.Ser25819=)
c.77314T= (p.Ser25772=)
c.103357T= (p.Ser34453=)
c.98755T= (p.Ser32919=)
c.98752T= (p.Ser32918=)
c.95794T= (p.Ser31932=)
c.77410T= (p.Ser25804=)
c.98905T= (p.Ser32969=)
c.98902T= (p.Ser32968=)
c.98335T= (p.Ser32779=)
c.95677T= (p.Ser31893=)
c.95596T= (p.Ser31866=)
c.77359T= (p.Ser25787=)
c.67213T= (p.Ser22405=)
2g.178532151A>CCA349411667TTN,TTN-AS1c.96760T>G (p.Ser32254Ala)
c.77845T>G (p.Ser25949Ala)
c.77644T>G (p.Ser25882Ala)
c.77269T>G (p.Ser25757Ala)
c.104464T>G (p.Ser34822Ala)
c.99541T>G (p.Ser33181Ala)
n.446+8515A>C
n.220-3581A>C
c.103561T>G (p.Ser34521Ala)
c.77455T>G (p.Ser25819Ala)
c.77314T>G (p.Ser25772Ala)
c.103357T>G (p.Ser34453Ala)
c.98755T>G (p.Ser32919Ala)
c.98752T>G (p.Ser32918Ala)
c.95794T>G (p.Ser31932Ala)
c.77410T>G (p.Ser25804Ala)
c.98905T>G (p.Ser32969Ala)
c.98902T>G (p.Ser32968Ala)
c.98335T>G (p.Ser32779Ala)
c.95677T>G (p.Ser31893Ala)
c.95596T>G (p.Ser31866Ala)
c.77359T>G (p.Ser25787Ala)
c.67213T>G (p.Ser22405Ala)
2g.178532151A>GCA1985422TTN,TTN-AS1c.96760T>C (p.Ser32254Pro)
c.77845T>C (p.Ser25949Pro)
c.77644T>C (p.Ser25882Pro)
c.77269T>C (p.Ser25757Pro)
c.104464T>C (p.Ser34822Pro)
c.99541T>C (p.Ser33181Pro)
n.446+8515A>G
n.220-3581A>G
c.103561T>C (p.Ser34521Pro)
c.77455T>C (p.Ser25819Pro)
c.77314T>C (p.Ser25772Pro)
c.103357T>C (p.Ser34453Pro)
c.98755T>C (p.Ser32919Pro)
c.98752T>C (p.Ser32918Pro)
c.95794T>C (p.Ser31932Pro)
c.77410T>C (p.Ser25804Pro)
c.98905T>C (p.Ser32969Pro)
c.98902T>C (p.Ser32968Pro)
c.98335T>C (p.Ser32779Pro)
c.95677T>C (p.Ser31893Pro)
c.95596T>C (p.Ser31866Pro)
c.77359T>C (p.Ser25787Pro)
c.67213T>C (p.Ser22405Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532151A>TCA349411669TTN,TTN-AS1c.96760T>A (p.Ser32254Thr)
c.77845T>A (p.Ser25949Thr)
c.77644T>A (p.Ser25882Thr)
c.77269T>A (p.Ser25757Thr)
c.104464T>A (p.Ser34822Thr)
c.99541T>A (p.Ser33181Thr)
n.446+8515A>T
n.220-3581A>T
c.103561T>A (p.Ser34521Thr)
c.77455T>A (p.Ser25819Thr)
c.77314T>A (p.Ser25772Thr)
c.103357T>A (p.Ser34453Thr)
c.98755T>A (p.Ser32919Thr)
c.98752T>A (p.Ser32918Thr)
c.95794T>A (p.Ser31932Thr)
c.77410T>A (p.Ser25804Thr)
c.98905T>A (p.Ser32969Thr)
c.98902T>A (p.Ser32968Thr)
c.98335T>A (p.Ser32779Thr)
c.95677T>A (p.Ser31893Thr)
c.95596T>A (p.Ser31866Thr)
c.77359T>A (p.Ser25787Thr)
c.67213T>A (p.Ser22405Thr)
2g.178532152G>ACA430235899TTN,TTN-AS1c.96759C>T (p.Ile32253=)
c.77844C>T (p.Ile25948=)
c.77643C>T (p.Ile25881=)
c.77268C>T (p.Ile25756=)
c.104463C>T (p.Ile34821=)
c.99540C>T (p.Ile33180=)
n.446+8516G>A
n.220-3580G>A
c.103560C>T (p.Ile34520=)
c.77454C>T (p.Ile25818=)
c.77313C>T (p.Ile25771=)
c.103356C>T (p.Ile34452=)
c.98754C>T (p.Ile32918=)
c.98751C>T (p.Ile32917=)
c.95793C>T (p.Ile31931=)
c.77409C>T (p.Ile25803=)
c.98904C>T (p.Ile32968=)
c.98901C>T (p.Ile32967=)
c.98334C>T (p.Ile32778=)
c.95676C>T (p.Ile31892=)
c.95595C>T (p.Ile31865=)
c.77358C>T (p.Ile25786=)
c.67212C>T (p.Ile22404=)
 gnomAD v4
2g.178532152G>CCA349411671TTN,TTN-AS1c.96759C>G (p.Ile32253Met)
c.77844C>G (p.Ile25948Met)
c.77643C>G (p.Ile25881Met)
c.77268C>G (p.Ile25756Met)
c.104463C>G (p.Ile34821Met)
c.99540C>G (p.Ile33180Met)
n.446+8516G>C
n.220-3580G>C
c.103560C>G (p.Ile34520Met)
c.77454C>G (p.Ile25818Met)
c.77313C>G (p.Ile25771Met)
c.103356C>G (p.Ile34452Met)
c.98754C>G (p.Ile32918Met)
c.98751C>G (p.Ile32917Met)
c.95793C>G (p.Ile31931Met)
c.77409C>G (p.Ile25803Met)
c.98904C>G (p.Ile32968Met)
c.98901C>G (p.Ile32967Met)
c.98334C>G (p.Ile32778Met)
c.95676C>G (p.Ile31892Met)
c.95595C>G (p.Ile31865Met)
c.77358C>G (p.Ile25786Met)
c.67212C>G (p.Ile22404Met)
 gnomAD v4
2g.178532152G>TCA430235900TTN,TTN-AS1c.96759C>A (p.Ile32253=)
c.77844C>A (p.Ile25948=)
c.77643C>A (p.Ile25881=)
c.77268C>A (p.Ile25756=)
c.104463C>A (p.Ile34821=)
c.99540C>A (p.Ile33180=)
n.446+8516G>T
n.220-3580G>T
c.103560C>A (p.Ile34520=)
c.77454C>A (p.Ile25818=)
c.77313C>A (p.Ile25771=)
c.103356C>A (p.Ile34452=)
c.98754C>A (p.Ile32918=)
c.98751C>A (p.Ile32917=)
c.95793C>A (p.Ile31931=)
c.77409C>A (p.Ile25803=)
c.98904C>A (p.Ile32968=)
c.98901C>A (p.Ile32967=)
c.98334C>A (p.Ile32778=)
c.95676C>A (p.Ile31892=)
c.95595C>A (p.Ile31865=)
c.77358C>A (p.Ile25786=)
c.67212C>A (p.Ile22404=)
2g.178532153A>CCA349411673TTN,TTN-AS1c.96758T>G (p.Ile32253Ser)
c.77843T>G (p.Ile25948Ser)
c.77642T>G (p.Ile25881Ser)
c.77267T>G (p.Ile25756Ser)
c.104462T>G (p.Ile34821Ser)
c.99539T>G (p.Ile33180Ser)
n.446+8517A>C
n.220-3579A>C
c.103559T>G (p.Ile34520Ser)
c.77453T>G (p.Ile25818Ser)
c.77312T>G (p.Ile25771Ser)
c.103355T>G (p.Ile34452Ser)
c.98753T>G (p.Ile32918Ser)
c.98750T>G (p.Ile32917Ser)
c.95792T>G (p.Ile31931Ser)
c.77408T>G (p.Ile25803Ser)
c.98903T>G (p.Ile32968Ser)
c.98900T>G (p.Ile32967Ser)
c.98333T>G (p.Ile32778Ser)
c.95675T>G (p.Ile31892Ser)
c.95594T>G (p.Ile31865Ser)
c.77357T>G (p.Ile25786Ser)
c.67211T>G (p.Ile22404Ser)
2g.178532153A>GCA349411674TTN,TTN-AS1c.96758T>C (p.Ile32253Thr)
c.77843T>C (p.Ile25948Thr)
c.77642T>C (p.Ile25881Thr)
c.77267T>C (p.Ile25756Thr)
c.104462T>C (p.Ile34821Thr)
c.99539T>C (p.Ile33180Thr)
n.446+8517A>G
n.220-3579A>G
c.103559T>C (p.Ile34520Thr)
c.77453T>C (p.Ile25818Thr)
c.77312T>C (p.Ile25771Thr)
c.103355T>C (p.Ile34452Thr)
c.98753T>C (p.Ile32918Thr)
c.98750T>C (p.Ile32917Thr)
c.95792T>C (p.Ile31931Thr)
c.77408T>C (p.Ile25803Thr)
c.98903T>C (p.Ile32968Thr)
c.98900T>C (p.Ile32967Thr)
c.98333T>C (p.Ile32778Thr)
c.95675T>C (p.Ile31892Thr)
c.95594T>C (p.Ile31865Thr)
c.77357T>C (p.Ile25786Thr)
c.67211T>C (p.Ile22404Thr)
 dbSNP gnomAD v4
2g.178532153A>TCA349411675TTN,TTN-AS1c.96758T>A (p.Ile32253Asn)
c.77843T>A (p.Ile25948Asn)
c.77642T>A (p.Ile25881Asn)
c.77267T>A (p.Ile25756Asn)
c.104462T>A (p.Ile34821Asn)
c.99539T>A (p.Ile33180Asn)
n.446+8517A>T
n.220-3579A>T
c.103559T>A (p.Ile34520Asn)
c.77453T>A (p.Ile25818Asn)
c.77312T>A (p.Ile25771Asn)
c.103355T>A (p.Ile34452Asn)
c.98753T>A (p.Ile32918Asn)
c.98750T>A (p.Ile32917Asn)
c.95792T>A (p.Ile31931Asn)
c.77408T>A (p.Ile25803Asn)
c.98903T>A (p.Ile32968Asn)
c.98900T>A (p.Ile32967Asn)
c.98333T>A (p.Ile32778Asn)
c.95675T>A (p.Ile31892Asn)
c.95594T>A (p.Ile31865Asn)
c.77357T>A (p.Ile25786Asn)
c.67211T>A (p.Ile22404Asn)
2g.178532154T>ACA349411678TTN,TTN-AS1c.96757A>T (p.Ile32253Phe)
c.77842A>T (p.Ile25948Phe)
c.77641A>T (p.Ile25881Phe)
c.77266A>T (p.Ile25756Phe)
c.104461A>T (p.Ile34821Phe)
c.99538A>T (p.Ile33180Phe)
n.446+8518T>A
n.220-3578T>A
c.103558A>T (p.Ile34520Phe)
c.77452A>T (p.Ile25818Phe)
c.77311A>T (p.Ile25771Phe)
c.103354A>T (p.Ile34452Phe)
c.98752A>T (p.Ile32918Phe)
c.98749A>T (p.Ile32917Phe)
c.95791A>T (p.Ile31931Phe)
c.77407A>T (p.Ile25803Phe)
c.98902A>T (p.Ile32968Phe)
c.98899A>T (p.Ile32967Phe)
c.98332A>T (p.Ile32778Phe)
c.95674A>T (p.Ile31892Phe)
c.95593A>T (p.Ile31865Phe)
c.77356A>T (p.Ile25786Phe)
c.67210A>T (p.Ile22404Phe)
2g.178532154T>CCA349411676TTN,TTN-AS1c.96757A>G (p.Ile32253Val)
c.77842A>G (p.Ile25948Val)
c.77641A>G (p.Ile25881Val)
c.77266A>G (p.Ile25756Val)
c.104461A>G (p.Ile34821Val)
c.99538A>G (p.Ile33180Val)
n.446+8518T>C
n.220-3578T>C
c.103558A>G (p.Ile34520Val)
c.77452A>G (p.Ile25818Val)
c.77311A>G (p.Ile25771Val)
c.103354A>G (p.Ile34452Val)
c.98752A>G (p.Ile32918Val)
c.98749A>G (p.Ile32917Val)
c.95791A>G (p.Ile31931Val)
c.77407A>G (p.Ile25803Val)
c.98902A>G (p.Ile32968Val)
c.98899A>G (p.Ile32967Val)
c.98332A>G (p.Ile32778Val)
c.95674A>G (p.Ile31892Val)
c.95593A>G (p.Ile31865Val)
c.77356A>G (p.Ile25786Val)
c.67210A>G (p.Ile22404Val)
2g.178532154T>GCA349411677TTN,TTN-AS1c.96757A>C (p.Ile32253Leu)
c.77842A>C (p.Ile25948Leu)
c.77641A>C (p.Ile25881Leu)
c.77266A>C (p.Ile25756Leu)
c.104461A>C (p.Ile34821Leu)
c.99538A>C (p.Ile33180Leu)
n.446+8518T>G
n.220-3578T>G
c.103558A>C (p.Ile34520Leu)
c.77452A>C (p.Ile25818Leu)
c.77311A>C (p.Ile25771Leu)
c.103354A>C (p.Ile34452Leu)
c.98752A>C (p.Ile32918Leu)
c.98749A>C (p.Ile32917Leu)
c.95791A>C (p.Ile31931Leu)
c.77407A>C (p.Ile25803Leu)
c.98902A>C (p.Ile32968Leu)
c.98899A>C (p.Ile32967Leu)
c.98332A>C (p.Ile32778Leu)
c.95674A>C (p.Ile31892Leu)
c.95593A>C (p.Ile31865Leu)
c.77356A>C (p.Ile25786Leu)
c.67210A>C (p.Ile22404Leu)
2g.178532155T>ACA349411679TTN,TTN-AS1c.96756A>T (p.Glu32252Asp)
c.77841A>T (p.Glu25947Asp)
c.77640A>T (p.Glu25880Asp)
c.77265A>T (p.Glu25755Asp)
c.104460A>T (p.Glu34820Asp)
c.99537A>T (p.Glu33179Asp)
n.446+8519T>A
n.220-3577T>A
c.103557A>T (p.Glu34519Asp)
c.77451A>T (p.Glu25817Asp)
c.77310A>T (p.Glu25770Asp)
c.103353A>T (p.Glu34451Asp)
c.98751A>T (p.Glu32917Asp)
c.98748A>T (p.Glu32916Asp)
c.95790A>T (p.Glu31930Asp)
c.77406A>T (p.Glu25802Asp)
c.98901A>T (p.Glu32967Asp)
c.98898A>T (p.Glu32966Asp)
c.98331A>T (p.Glu32777Asp)
c.95673A>T (p.Glu31891Asp)
c.95592A>T (p.Glu31864Asp)
c.77355A>T (p.Glu25785Asp)
c.67209A>T (p.Glu22403Asp)
2g.178532155T>CCA430235901TTN,TTN-AS1c.96756A>G (p.Glu32252=)
c.77841A>G (p.Glu25947=)
c.77640A>G (p.Glu25880=)
c.77265A>G (p.Glu25755=)
c.104460A>G (p.Glu34820=)
c.99537A>G (p.Glu33179=)
n.446+8519T>C
n.220-3577T>C
c.103557A>G (p.Glu34519=)
c.77451A>G (p.Glu25817=)
c.77310A>G (p.Glu25770=)
c.103353A>G (p.Glu34451=)
c.98751A>G (p.Glu32917=)
c.98748A>G (p.Glu32916=)
c.95790A>G (p.Glu31930=)
c.77406A>G (p.Glu25802=)
c.98901A>G (p.Glu32967=)
c.98898A>G (p.Glu32966=)
c.98331A>G (p.Glu32777=)
c.95673A>G (p.Glu31891=)
c.95592A>G (p.Glu31864=)
c.77355A>G (p.Glu25785=)
c.67209A>G (p.Glu22403=)
2g.178532155T>GCA349411680TTN,TTN-AS1c.96756A>C (p.Glu32252Asp)
c.77841A>C (p.Glu25947Asp)
c.77640A>C (p.Glu25880Asp)
c.77265A>C (p.Glu25755Asp)
c.104460A>C (p.Glu34820Asp)
c.99537A>C (p.Glu33179Asp)
n.446+8519T>G
n.220-3577T>G
c.103557A>C (p.Glu34519Asp)
c.77451A>C (p.Glu25817Asp)
c.77310A>C (p.Glu25770Asp)
c.103353A>C (p.Glu34451Asp)
c.98751A>C (p.Glu32917Asp)
c.98748A>C (p.Glu32916Asp)
c.95790A>C (p.Glu31930Asp)
c.77406A>C (p.Glu25802Asp)
c.98901A>C (p.Glu32967Asp)
c.98898A>C (p.Glu32966Asp)
c.98331A>C (p.Glu32777Asp)
c.95673A>C (p.Glu31891Asp)
c.95592A>C (p.Glu31864Asp)
c.77355A>C (p.Glu25785Asp)
c.67209A>C (p.Glu22403Asp)
2g.178532156T>ACA349411681TTN,TTN-AS1c.96755A>T (p.Glu32252Val)
c.77840A>T (p.Glu25947Val)
c.77639A>T (p.Glu25880Val)
c.77264A>T (p.Glu25755Val)
c.104459A>T (p.Glu34820Val)
c.99536A>T (p.Glu33179Val)
n.446+8520T>A
n.220-3576T>A
c.103556A>T (p.Glu34519Val)
c.77450A>T (p.Glu25817Val)
c.77309A>T (p.Glu25770Val)
c.103352A>T (p.Glu34451Val)
c.98750A>T (p.Glu32917Val)
c.98747A>T (p.Glu32916Val)
c.95789A>T (p.Glu31930Val)
c.77405A>T (p.Glu25802Val)
c.98900A>T (p.Glu32967Val)
c.98897A>T (p.Glu32966Val)
c.98330A>T (p.Glu32777Val)
c.95672A>T (p.Glu31891Val)
c.95591A>T (p.Glu31864Val)
c.77354A>T (p.Glu25785Val)
c.67208A>T (p.Glu22403Val)
2g.178532156T>CCA349411682TTN,TTN-AS1c.96755A>G (p.Glu32252Gly)
c.77840A>G (p.Glu25947Gly)
c.77639A>G (p.Glu25880Gly)
c.77264A>G (p.Glu25755Gly)
c.104459A>G (p.Glu34820Gly)
c.99536A>G (p.Glu33179Gly)
n.446+8520T>C
n.220-3576T>C
c.103556A>G (p.Glu34519Gly)
c.77450A>G (p.Glu25817Gly)
c.77309A>G (p.Glu25770Gly)
c.103352A>G (p.Glu34451Gly)
c.98750A>G (p.Glu32917Gly)
c.98747A>G (p.Glu32916Gly)
c.95789A>G (p.Glu31930Gly)
c.77405A>G (p.Glu25802Gly)
c.98900A>G (p.Glu32967Gly)
c.98897A>G (p.Glu32966Gly)
c.98330A>G (p.Glu32777Gly)
c.95672A>G (p.Glu31891Gly)
c.95591A>G (p.Glu31864Gly)
c.77354A>G (p.Glu25785Gly)
c.67208A>G (p.Glu22403Gly)
2g.178532156T>GCA349411683TTN,TTN-AS1c.96755A>C (p.Glu32252Ala)
c.77840A>C (p.Glu25947Ala)
c.77639A>C (p.Glu25880Ala)
c.77264A>C (p.Glu25755Ala)
c.104459A>C (p.Glu34820Ala)
c.99536A>C (p.Glu33179Ala)
n.446+8520T>G
n.220-3576T>G
c.103556A>C (p.Glu34519Ala)
c.77450A>C (p.Glu25817Ala)
c.77309A>C (p.Glu25770Ala)
c.103352A>C (p.Glu34451Ala)
c.98750A>C (p.Glu32917Ala)
c.98747A>C (p.Glu32916Ala)
c.95789A>C (p.Glu31930Ala)
c.77405A>C (p.Glu25802Ala)
c.98900A>C (p.Glu32967Ala)
c.98897A>C (p.Glu32966Ala)
c.98330A>C (p.Glu32777Ala)
c.95672A>C (p.Glu31891Ala)
c.95591A>C (p.Glu31864Ala)
c.77354A>C (p.Glu25785Ala)
c.67208A>C (p.Glu22403Ala)
2g.178532157C>ACA349411685TTN,TTN-AS1c.96754G>T (p.Glu32252Ter)
c.77839G>T (p.Glu25947Ter)
c.77638G>T (p.Glu25880Ter)
c.77263G>T (p.Glu25755Ter)
c.104458G>T (p.Glu34820Ter)
c.99535G>T (p.Glu33179Ter)
n.446+8521C>A
n.220-3575C>A
c.103555G>T (p.Glu34519Ter)
c.77449G>T (p.Glu25817Ter)
c.77308G>T (p.Glu25770Ter)
c.103351G>T (p.Glu34451Ter)
c.98749G>T (p.Glu32917Ter)
c.98746G>T (p.Glu32916Ter)
c.95788G>T (p.Glu31930Ter)
c.77404G>T (p.Glu25802Ter)
c.98899G>T (p.Glu32967Ter)
c.98896G>T (p.Glu32966Ter)
c.98329G>T (p.Glu32777Ter)
c.95671G>T (p.Glu31891Ter)
c.95590G>T (p.Glu31864Ter)
c.77353G>T (p.Glu25785Ter)
c.67207G>T (p.Glu22403Ter)
2g.178532157C=CA1310518104TTN,TTN-AS1c.96754G= (p.Glu32252=)
c.77839G= (p.Glu25947=)
c.77638G= (p.Glu25880=)
c.77263G= (p.Glu25755=)
c.104458G= (p.Glu34820=)
c.99535G= (p.Glu33179=)
n.446+8521C=
n.220-3575C=
c.103555G= (p.Glu34519=)
c.77449G= (p.Glu25817=)
c.77308G= (p.Glu25770=)
c.103351G= (p.Glu34451=)
c.98749G= (p.Glu32917=)
c.98746G= (p.Glu32916=)
c.95788G= (p.Glu31930=)
c.77404G= (p.Glu25802=)
c.98899G= (p.Glu32967=)
c.98896G= (p.Glu32966=)
c.98329G= (p.Glu32777=)
c.95671G= (p.Glu31891=)
c.95590G= (p.Glu31864=)
c.77353G= (p.Glu25785=)
c.67207G= (p.Glu22403=)
2g.178532157C>GCA349411684TTN,TTN-AS1c.96754G>C (p.Glu32252Gln)
c.77839G>C (p.Glu25947Gln)
c.77638G>C (p.Glu25880Gln)
c.77263G>C (p.Glu25755Gln)
c.104458G>C (p.Glu34820Gln)
c.99535G>C (p.Glu33179Gln)
n.446+8521C>G
n.220-3575C>G
c.103555G>C (p.Glu34519Gln)
c.77449G>C (p.Glu25817Gln)
c.77308G>C (p.Glu25770Gln)
c.103351G>C (p.Glu34451Gln)
c.98749G>C (p.Glu32917Gln)
c.98746G>C (p.Glu32916Gln)
c.95788G>C (p.Glu31930Gln)
c.77404G>C (p.Glu25802Gln)
c.98899G>C (p.Glu32967Gln)
c.98896G>C (p.Glu32966Gln)
c.98329G>C (p.Glu32777Gln)
c.95671G>C (p.Glu31891Gln)
c.95590G>C (p.Glu31864Gln)
c.77353G>C (p.Glu25785Gln)
c.67207G>C (p.Glu22403Gln)
2g.178532157C>TCA1985423TTN,TTN-AS1c.96754G>A (p.Glu32252Lys)
c.77839G>A (p.Glu25947Lys)
c.77638G>A (p.Glu25880Lys)
c.77263G>A (p.Glu25755Lys)
c.104458G>A (p.Glu34820Lys)
c.99535G>A (p.Glu33179Lys)
n.446+8521C>T
n.220-3575C>T
c.103555G>A (p.Glu34519Lys)
c.77449G>A (p.Glu25817Lys)
c.77308G>A (p.Glu25770Lys)
c.103351G>A (p.Glu34451Lys)
c.98749G>A (p.Glu32917Lys)
c.98746G>A (p.Glu32916Lys)
c.95788G>A (p.Glu31930Lys)
c.77404G>A (p.Glu25802Lys)
c.98899G>A (p.Glu32967Lys)
c.98896G>A (p.Glu32966Lys)
c.98329G>A (p.Glu32777Lys)
c.95671G>A (p.Glu31891Lys)
c.95590G>A (p.Glu31864Lys)
c.77353G>A (p.Glu25785Lys)
c.67207G>A (p.Glu22403Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532158G>ACA291495TTN,TTN-AS1c.96753C>T (p.Tyr32251=)
c.77838C>T (p.Tyr25946=)
c.77637C>T (p.Tyr25879=)
c.77262C>T (p.Tyr25754=)
c.104457C>T (p.Tyr34819=)
c.99534C>T (p.Tyr33178=)
n.446+8522G>A
n.220-3574G>A
c.103554C>T (p.Tyr34518=)
c.77448C>T (p.Tyr25816=)
c.77307C>T (p.Tyr25769=)
c.103350C>T (p.Tyr34450=)
c.98748C>T (p.Tyr32916=)
c.98745C>T (p.Tyr32915=)
c.95787C>T (p.Tyr31929=)
c.77403C>T (p.Tyr25801=)
c.98898C>T (p.Tyr32966=)
c.98895C>T (p.Tyr32965=)
c.98328C>T (p.Tyr32776=)
c.95670C>T (p.Tyr31890=)
c.95589C>T (p.Tyr31863=)
c.77352C>T (p.Tyr25784=)
c.67206C>T (p.Tyr22402=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532158G>CCA349411686TTN,TTN-AS1c.96753C>G (p.Tyr32251Ter)
c.77838C>G (p.Tyr25946Ter)
c.77637C>G (p.Tyr25879Ter)
c.77262C>G (p.Tyr25754Ter)
c.104457C>G (p.Tyr34819Ter)
c.99534C>G (p.Tyr33178Ter)
n.446+8522G>C
n.220-3574G>C
c.103554C>G (p.Tyr34518Ter)
c.77448C>G (p.Tyr25816Ter)
c.77307C>G (p.Tyr25769Ter)
c.103350C>G (p.Tyr34450Ter)
c.98748C>G (p.Tyr32916Ter)
c.98745C>G (p.Tyr32915Ter)
c.95787C>G (p.Tyr31929Ter)
c.77403C>G (p.Tyr25801Ter)
c.98898C>G (p.Tyr32966Ter)
c.98895C>G (p.Tyr32965Ter)
c.98328C>G (p.Tyr32776Ter)
c.95670C>G (p.Tyr31890Ter)
c.95589C>G (p.Tyr31863Ter)
c.77352C>G (p.Tyr25784Ter)
c.67206C>G (p.Tyr22402Ter)
2g.178532158G=CA1310518105TTN,TTN-AS1c.96753C= (p.Tyr32251=)
c.77838C= (p.Tyr25946=)
c.77637C= (p.Tyr25879=)
c.77262C= (p.Tyr25754=)
c.104457C= (p.Tyr34819=)
c.99534C= (p.Tyr33178=)
n.446+8522G=
n.220-3574G=
c.103554C= (p.Tyr34518=)
c.77448C= (p.Tyr25816=)
c.77307C= (p.Tyr25769=)
c.103350C= (p.Tyr34450=)
c.98748C= (p.Tyr32916=)
c.98745C= (p.Tyr32915=)
c.95787C= (p.Tyr31929=)
c.77403C= (p.Tyr25801=)
c.98898C= (p.Tyr32966=)
c.98895C= (p.Tyr32965=)
c.98328C= (p.Tyr32776=)
c.95670C= (p.Tyr31890=)
c.95589C= (p.Tyr31863=)
c.77352C= (p.Tyr25784=)
c.67206C= (p.Tyr22402=)
2g.178532158G>TCA349411687TTN,TTN-AS1c.96753C>A (p.Tyr32251Ter)
c.77838C>A (p.Tyr25946Ter)
c.77637C>A (p.Tyr25879Ter)
c.77262C>A (p.Tyr25754Ter)
c.104457C>A (p.Tyr34819Ter)
c.99534C>A (p.Tyr33178Ter)
n.446+8522G>T
n.220-3574G>T
c.103554C>A (p.Tyr34518Ter)
c.77448C>A (p.Tyr25816Ter)
c.77307C>A (p.Tyr25769Ter)
c.103350C>A (p.Tyr34450Ter)
c.98748C>A (p.Tyr32916Ter)
c.98745C>A (p.Tyr32915Ter)
c.95787C>A (p.Tyr31929Ter)
c.77403C>A (p.Tyr25801Ter)
c.98898C>A (p.Tyr32966Ter)
c.98895C>A (p.Tyr32965Ter)
c.98328C>A (p.Tyr32776Ter)
c.95670C>A (p.Tyr31890Ter)
c.95589C>A (p.Tyr31863Ter)
c.77352C>A (p.Tyr25784Ter)
c.67206C>A (p.Tyr22402Ter)
 ClinVar
2g.178532159T>ACA349411688TTN,TTN-AS1c.96752A>T (p.Tyr32251Phe)
c.77837A>T (p.Tyr25946Phe)
c.77636A>T (p.Tyr25879Phe)
c.77261A>T (p.Tyr25754Phe)
c.104456A>T (p.Tyr34819Phe)
c.99533A>T (p.Tyr33178Phe)
n.446+8523T>A
n.220-3573T>A
c.103553A>T (p.Tyr34518Phe)
c.77447A>T (p.Tyr25816Phe)
c.77306A>T (p.Tyr25769Phe)
c.103349A>T (p.Tyr34450Phe)
c.98747A>T (p.Tyr32916Phe)
c.98744A>T (p.Tyr32915Phe)
c.95786A>T (p.Tyr31929Phe)
c.77402A>T (p.Tyr25801Phe)
c.98897A>T (p.Tyr32966Phe)
c.98894A>T (p.Tyr32965Phe)
c.98327A>T (p.Tyr32776Phe)
c.95669A>T (p.Tyr31890Phe)
c.95588A>T (p.Tyr31863Phe)
c.77351A>T (p.Tyr25784Phe)
c.67205A>T (p.Tyr22402Phe)
2g.178532159T>CCA349411689TTN,TTN-AS1c.96752A>G (p.Tyr32251Cys)
c.77837A>G (p.Tyr25946Cys)
c.77636A>G (p.Tyr25879Cys)
c.77261A>G (p.Tyr25754Cys)
c.104456A>G (p.Tyr34819Cys)
c.99533A>G (p.Tyr33178Cys)
n.446+8523T>C
n.220-3573T>C
c.103553A>G (p.Tyr34518Cys)
c.77447A>G (p.Tyr25816Cys)
c.77306A>G (p.Tyr25769Cys)
c.103349A>G (p.Tyr34450Cys)
c.98747A>G (p.Tyr32916Cys)
c.98744A>G (p.Tyr32915Cys)
c.95786A>G (p.Tyr31929Cys)
c.77402A>G (p.Tyr25801Cys)
c.98897A>G (p.Tyr32966Cys)
c.98894A>G (p.Tyr32965Cys)
c.98327A>G (p.Tyr32776Cys)
c.95669A>G (p.Tyr31890Cys)
c.95588A>G (p.Tyr31863Cys)
c.77351A>G (p.Tyr25784Cys)
c.67205A>G (p.Tyr22402Cys)
2g.178532159T>GCA349411690TTN,TTN-AS1c.96752A>C (p.Tyr32251Ser)
c.77837A>C (p.Tyr25946Ser)
c.77636A>C (p.Tyr25879Ser)
c.77261A>C (p.Tyr25754Ser)
c.104456A>C (p.Tyr34819Ser)
c.99533A>C (p.Tyr33178Ser)
n.446+8523T>G
n.220-3573T>G
c.103553A>C (p.Tyr34518Ser)
c.77447A>C (p.Tyr25816Ser)
c.77306A>C (p.Tyr25769Ser)
c.103349A>C (p.Tyr34450Ser)
c.98747A>C (p.Tyr32916Ser)
c.98744A>C (p.Tyr32915Ser)
c.95786A>C (p.Tyr31929Ser)
c.77402A>C (p.Tyr25801Ser)
c.98897A>C (p.Tyr32966Ser)
c.98894A>C (p.Tyr32965Ser)
c.98327A>C (p.Tyr32776Ser)
c.95669A>C (p.Tyr31890Ser)
c.95588A>C (p.Tyr31863Ser)
c.77351A>C (p.Tyr25784Ser)
c.67205A>C (p.Tyr22402Ser)
2g.178532160A=CA1310518107TTN,TTN-AS1c.96751T= (p.Tyr32251=)
c.77836T= (p.Tyr25946=)
c.77635T= (p.Tyr25879=)
c.77260T= (p.Tyr25754=)
c.104455T= (p.Tyr34819=)
c.99532T= (p.Tyr33178=)
n.446+8524A=
n.220-3572A=
c.103552T= (p.Tyr34518=)
c.77446T= (p.Tyr25816=)
c.77305T= (p.Tyr25769=)
c.103348T= (p.Tyr34450=)
c.98746T= (p.Tyr32916=)
c.98743T= (p.Tyr32915=)
c.95785T= (p.Tyr31929=)
c.77401T= (p.Tyr25801=)
c.98896T= (p.Tyr32966=)
c.98893T= (p.Tyr32965=)
c.98326T= (p.Tyr32776=)
c.95668T= (p.Tyr31890=)
c.95587T= (p.Tyr31863=)
c.77350T= (p.Tyr25784=)
c.67204T= (p.Tyr22402=)
2g.178532160A>CCA349411691TTN,TTN-AS1c.96751T>G (p.Tyr32251Asp)
c.77836T>G (p.Tyr25946Asp)
c.77635T>G (p.Tyr25879Asp)
c.77260T>G (p.Tyr25754Asp)
c.104455T>G (p.Tyr34819Asp)
c.99532T>G (p.Tyr33178Asp)
n.446+8524A>C
n.220-3572A>C
c.103552T>G (p.Tyr34518Asp)
c.77446T>G (p.Tyr25816Asp)
c.77305T>G (p.Tyr25769Asp)
c.103348T>G (p.Tyr34450Asp)
c.98746T>G (p.Tyr32916Asp)
c.98743T>G (p.Tyr32915Asp)
c.95785T>G (p.Tyr31929Asp)
c.77401T>G (p.Tyr25801Asp)
c.98896T>G (p.Tyr32966Asp)
c.98893T>G (p.Tyr32965Asp)
c.98326T>G (p.Tyr32776Asp)
c.95668T>G (p.Tyr31890Asp)
c.95587T>G (p.Tyr31863Asp)
c.77350T>G (p.Tyr25784Asp)
c.67204T>G (p.Tyr22402Asp)
2g.178532160A>GCA1985424TTN,TTN-AS1c.96751T>C (p.Tyr32251His)
c.77836T>C (p.Tyr25946His)
c.77635T>C (p.Tyr25879His)
c.77260T>C (p.Tyr25754His)
c.104455T>C (p.Tyr34819His)
c.99532T>C (p.Tyr33178His)
n.446+8524A>G
n.220-3572A>G
c.103552T>C (p.Tyr34518His)
c.77446T>C (p.Tyr25816His)
c.77305T>C (p.Tyr25769His)
c.103348T>C (p.Tyr34450His)
c.98746T>C (p.Tyr32916His)
c.98743T>C (p.Tyr32915His)
c.95785T>C (p.Tyr31929His)
c.77401T>C (p.Tyr25801His)
c.98896T>C (p.Tyr32966His)
c.98893T>C (p.Tyr32965His)
c.98326T>C (p.Tyr32776His)
c.95668T>C (p.Tyr31890His)
c.95587T>C (p.Tyr31863His)
c.77350T>C (p.Tyr25784His)
c.67204T>C (p.Tyr22402His)
 ClinVar dbSNP ExAC gnomAD v4
2g.178532160A>TCA349411692TTN,TTN-AS1c.96751T>A (p.Tyr32251Asn)
c.77836T>A (p.Tyr25946Asn)
c.77635T>A (p.Tyr25879Asn)
c.77260T>A (p.Tyr25754Asn)
c.104455T>A (p.Tyr34819Asn)
c.99532T>A (p.Tyr33178Asn)
n.446+8524A>T
n.220-3572A>T
c.103552T>A (p.Tyr34518Asn)
c.77446T>A (p.Tyr25816Asn)
c.77305T>A (p.Tyr25769Asn)
c.103348T>A (p.Tyr34450Asn)
c.98746T>A (p.Tyr32916Asn)
c.98743T>A (p.Tyr32915Asn)
c.95785T>A (p.Tyr31929Asn)
c.77401T>A (p.Tyr25801Asn)
c.98896T>A (p.Tyr32966Asn)
c.98893T>A (p.Tyr32965Asn)
c.98326T>A (p.Tyr32776Asn)
c.95668T>A (p.Tyr31890Asn)
c.95587T>A (p.Tyr31863Asn)
c.77350T>A (p.Tyr25784Asn)
c.67204T>A (p.Tyr22402Asn)
2g.178532160_178532163delinsATTCCA1310518106TTN,TTN-AS1c.96748_96751delinsGAAT (p.Glu32250=)
c.77833_77836delinsGAAT (p.Glu25945=)
c.77632_77635delinsGAAT (p.Glu25878=)
c.77257_77260delinsGAAT (p.Glu25753=)
c.104452_104455delinsGAAT (p.Glu34818=)
c.99529_99532delinsGAAT (p.Glu33177=)
n.446+8524_446+8527delinsATTC
n.220-3572_220-3569delinsATTC
c.103549_103552delinsGAAT (p.Glu34517=)
c.77443_77446delinsGAAT (p.Glu25815=)
c.77302_77305delinsGAAT (p.Glu25768=)
c.103345_103348delinsGAAT (p.Glu34449=)
c.98743_98746delinsGAAT (p.Glu32915=)
c.98740_98743delinsGAAT (p.Glu32914=)
c.95782_95785delinsGAAT (p.Glu31928=)
c.77398_77401delinsGAAT (p.Glu25800=)
c.98893_98896delinsGAAT (p.Glu32965=)
c.98890_98893delinsGAAT (p.Glu32964=)
c.98323_98326delinsGAAT (p.Glu32775=)
c.95665_95668delinsGAAT (p.Glu31889=)
c.95584_95587delinsGAAT (p.Glu31862=)
c.77347_77350delinsGAAT (p.Glu25783=)
c.67201_67204delinsGAAT (p.Glu22401=)
2g.178532161T>ACA349411693TTN,TTN-AS1c.96750A>T (p.Glu32250Asp)
c.77835A>T (p.Glu25945Asp)
c.77634A>T (p.Glu25878Asp)
c.77259A>T (p.Glu25753Asp)
c.104454A>T (p.Glu34818Asp)
c.99531A>T (p.Glu33177Asp)
n.446+8525T>A
n.220-3571T>A
c.103551A>T (p.Glu34517Asp)
c.77445A>T (p.Glu25815Asp)
c.77304A>T (p.Glu25768Asp)
c.103347A>T (p.Glu34449Asp)
c.98745A>T (p.Glu32915Asp)
c.98742A>T (p.Glu32914Asp)
c.95784A>T (p.Glu31928Asp)
c.77400A>T (p.Glu25800Asp)
c.98895A>T (p.Glu32965Asp)
c.98892A>T (p.Glu32964Asp)
c.98325A>T (p.Glu32775Asp)
c.95667A>T (p.Glu31889Asp)
c.95586A>T (p.Glu31862Asp)
c.77349A>T (p.Glu25783Asp)
c.67203A>T (p.Glu22401Asp)
2g.178532161T>CCA430235902TTN,TTN-AS1c.96750A>G (p.Glu32250=)
c.77835A>G (p.Glu25945=)
c.77634A>G (p.Glu25878=)
c.77259A>G (p.Glu25753=)
c.104454A>G (p.Glu34818=)
c.99531A>G (p.Glu33177=)
n.446+8525T>C
n.220-3571T>C
c.103551A>G (p.Glu34517=)
c.77445A>G (p.Glu25815=)
c.77304A>G (p.Glu25768=)
c.103347A>G (p.Glu34449=)
c.98745A>G (p.Glu32915=)
c.98742A>G (p.Glu32914=)
c.95784A>G (p.Glu31928=)
c.77400A>G (p.Glu25800=)
c.98895A>G (p.Glu32965=)
c.98892A>G (p.Glu32964=)
c.98325A>G (p.Glu32775=)
c.95667A>G (p.Glu31889=)
c.95586A>G (p.Glu31862=)
c.77349A>G (p.Glu25783=)
c.67203A>G (p.Glu22401=)
2g.178532161T>GCA349411694TTN,TTN-AS1c.96750A>C (p.Glu32250Asp)
c.77835A>C (p.Glu25945Asp)
c.77634A>C (p.Glu25878Asp)
c.77259A>C (p.Glu25753Asp)
c.104454A>C (p.Glu34818Asp)
c.99531A>C (p.Glu33177Asp)
n.446+8525T>G
n.220-3571T>G
c.103551A>C (p.Glu34517Asp)
c.77445A>C (p.Glu25815Asp)
c.77304A>C (p.Glu25768Asp)
c.103347A>C (p.Glu34449Asp)
c.98745A>C (p.Glu32915Asp)
c.98742A>C (p.Glu32914Asp)
c.95784A>C (p.Glu31928Asp)
c.77400A>C (p.Glu25800Asp)
c.98895A>C (p.Glu32965Asp)
c.98892A>C (p.Glu32964Asp)
c.98325A>C (p.Glu32775Asp)
c.95667A>C (p.Glu31889Asp)
c.95586A>C (p.Glu31862Asp)
c.77349A>C (p.Glu25783Asp)
c.67203A>C (p.Glu22401Asp)
2g.178532164_178532166delCA1985425TTN,TTN-AS1c.96748_96750del (p.Glu32250del)
c.77833_77835del (p.Glu25945del)
c.77632_77634del (p.Glu25878del)
c.77257_77259del (p.Glu25753del)
c.104452_104454del (p.Glu34818del)
c.99529_99531del (p.Glu33177del)
n.446+8528_446+8530del
n.220-3568_220-3566del
c.103549_103551del (p.Glu34517del)
c.77443_77445del (p.Glu25815del)
c.77302_77304del (p.Glu25768del)
c.103345_103347del (p.Glu34449del)
c.98743_98745del (p.Glu32915del)
c.98740_98742del (p.Glu32914del)
c.95782_95784del (p.Glu31928del)
c.77398_77400del (p.Glu25800del)
c.98893_98895del (p.Glu32965del)
c.98890_98892del (p.Glu32964del)
c.98323_98325del (p.Glu32775del)
c.95665_95667del (p.Glu31889del)
c.95584_95586del (p.Glu31862del)
c.77347_77349del (p.Glu25783del)
c.67201_67203del (p.Glu22401del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178532162T>ACA349411695TTN,TTN-AS1c.96749A>T (p.Glu32250Val)
c.77834A>T (p.Glu25945Val)
c.77633A>T (p.Glu25878Val)
c.77258A>T (p.Glu25753Val)
c.104453A>T (p.Glu34818Val)
c.99530A>T (p.Glu33177Val)
n.446+8526T>A
n.220-3570T>A
c.103550A>T (p.Glu34517Val)
c.77444A>T (p.Glu25815Val)
c.77303A>T (p.Glu25768Val)
c.103346A>T (p.Glu34449Val)
c.98744A>T (p.Glu32915Val)
c.98741A>T (p.Glu32914Val)
c.95783A>T (p.Glu31928Val)
c.77399A>T (p.Glu25800Val)
c.98894A>T (p.Glu32965Val)
c.98891A>T (p.Glu32964Val)
c.98324A>T (p.Glu32775Val)
c.95666A>T (p.Glu31889Val)
c.95585A>T (p.Glu31862Val)
c.77348A>T (p.Glu25783Val)
c.67202A>T (p.Glu22401Val)
2g.178532162T>CCA349411696TTN,TTN-AS1c.96749A>G (p.Glu32250Gly)
c.77834A>G (p.Glu25945Gly)
c.77633A>G (p.Glu25878Gly)
c.77258A>G (p.Glu25753Gly)
c.104453A>G (p.Glu34818Gly)
c.99530A>G (p.Glu33177Gly)
n.446+8526T>C
n.220-3570T>C
c.103550A>G (p.Glu34517Gly)
c.77444A>G (p.Glu25815Gly)
c.77303A>G (p.Glu25768Gly)
c.103346A>G (p.Glu34449Gly)
c.98744A>G (p.Glu32915Gly)
c.98741A>G (p.Glu32914Gly)
c.95783A>G (p.Glu31928Gly)
c.77399A>G (p.Glu25800Gly)
c.98894A>G (p.Glu32965Gly)
c.98891A>G (p.Glu32964Gly)
c.98324A>G (p.Glu32775Gly)
c.95666A>G (p.Glu31889Gly)
c.95585A>G (p.Glu31862Gly)
c.77348A>G (p.Glu25783Gly)
c.67202A>G (p.Glu22401Gly)
 gnomAD v4
2g.178532162T>GCA349411698TTN,TTN-AS1c.96749A>C (p.Glu32250Ala)
c.77834A>C (p.Glu25945Ala)
c.77633A>C (p.Glu25878Ala)
c.77258A>C (p.Glu25753Ala)
c.104453A>C (p.Glu34818Ala)
c.99530A>C (p.Glu33177Ala)
n.446+8526T>G
n.220-3570T>G
c.103550A>C (p.Glu34517Ala)
c.77444A>C (p.Glu25815Ala)
c.77303A>C (p.Glu25768Ala)
c.103346A>C (p.Glu34449Ala)
c.98744A>C (p.Glu32915Ala)
c.98741A>C (p.Glu32914Ala)
c.95783A>C (p.Glu31928Ala)
c.77399A>C (p.Glu25800Ala)
c.98894A>C (p.Glu32965Ala)
c.98891A>C (p.Glu32964Ala)
c.98324A>C (p.Glu32775Ala)
c.95666A>C (p.Glu31889Ala)
c.95585A>C (p.Glu31862Ala)
c.77348A>C (p.Glu25783Ala)
c.67202A>C (p.Glu22401Ala)
2g.178532163C>ACA349411699TTN,TTN-AS1c.96748G>T (p.Glu32250Ter)
c.77833G>T (p.Glu25945Ter)
c.77632G>T (p.Glu25878Ter)
c.77257G>T (p.Glu25753Ter)
c.104452G>T (p.Glu34818Ter)
c.99529G>T (p.Glu33177Ter)
n.446+8527C>A
n.220-3569C>A
c.103549G>T (p.Glu34517Ter)
c.77443G>T (p.Glu25815Ter)
c.77302G>T (p.Glu25768Ter)
c.103345G>T (p.Glu34449Ter)
c.98743G>T (p.Glu32915Ter)
c.98740G>T (p.Glu32914Ter)
c.95782G>T (p.Glu31928Ter)
c.77398G>T (p.Glu25800Ter)
c.98893G>T (p.Glu32965Ter)
c.98890G>T (p.Glu32964Ter)
c.98323G>T (p.Glu32775Ter)
c.95665G>T (p.Glu31889Ter)
c.95584G>T (p.Glu31862Ter)
c.77347G>T (p.Glu25783Ter)
c.67201G>T (p.Glu22401Ter)
2g.178532163C>GCA349411700TTN,TTN-AS1c.96748G>C (p.Glu32250Gln)
c.77833G>C (p.Glu25945Gln)
c.77632G>C (p.Glu25878Gln)
c.77257G>C (p.Glu25753Gln)
c.104452G>C (p.Glu34818Gln)
c.99529G>C (p.Glu33177Gln)
n.446+8527C>G
n.220-3569C>G
c.103549G>C (p.Glu34517Gln)
c.77443G>C (p.Glu25815Gln)
c.77302G>C (p.Glu25768Gln)
c.103345G>C (p.Glu34449Gln)
c.98743G>C (p.Glu32915Gln)
c.98740G>C (p.Glu32914Gln)
c.95782G>C (p.Glu31928Gln)
c.77398G>C (p.Glu25800Gln)
c.98893G>C (p.Glu32965Gln)
c.98890G>C (p.Glu32964Gln)
c.98323G>C (p.Glu32775Gln)
c.95665G>C (p.Glu31889Gln)
c.95584G>C (p.Glu31862Gln)
c.77347G>C (p.Glu25783Gln)
c.67201G>C (p.Glu22401Gln)
2g.178532163C>TCA349411701TTN,TTN-AS1c.96748G>A (p.Glu32250Lys)
c.77833G>A (p.Glu25945Lys)
c.77632G>A (p.Glu25878Lys)
c.77257G>A (p.Glu25753Lys)
c.104452G>A (p.Glu34818Lys)
c.99529G>A (p.Glu33177Lys)
n.446+8527C>T
n.220-3569C>T
c.103549G>A (p.Glu34517Lys)
c.77443G>A (p.Glu25815Lys)
c.77302G>A (p.Glu25768Lys)
c.103345G>A (p.Glu34449Lys)
c.98743G>A (p.Glu32915Lys)
c.98740G>A (p.Glu32914Lys)
c.95782G>A (p.Glu31928Lys)
c.77398G>A (p.Glu25800Lys)
c.98893G>A (p.Glu32965Lys)
c.98890G>A (p.Glu32964Lys)
c.98323G>A (p.Glu32775Lys)
c.95665G>A (p.Glu31889Lys)
c.95584G>A (p.Glu31862Lys)
c.77347G>A (p.Glu25783Lys)
c.67201G>A (p.Glu22401Lys)
2g.178532164T>ACA349411702TTN,TTN-AS1c.96747A>T (p.Glu32249Asp)
c.77832A>T (p.Glu25944Asp)
c.77631A>T (p.Glu25877Asp)
c.77256A>T (p.Glu25752Asp)
c.104451A>T (p.Glu34817Asp)
c.99528A>T (p.Glu33176Asp)
n.446+8528T>A
n.220-3568T>A
c.103548A>T (p.Glu34516Asp)
c.77442A>T (p.Glu25814Asp)
c.77301A>T (p.Glu25767Asp)
c.103344A>T (p.Glu34448Asp)
c.98742A>T (p.Glu32914Asp)
c.98739A>T (p.Glu32913Asp)
c.95781A>T (p.Glu31927Asp)
c.77397A>T (p.Glu25799Asp)
c.98892A>T (p.Glu32964Asp)
c.98889A>T (p.Glu32963Asp)
c.98322A>T (p.Glu32774Asp)
c.95664A>T (p.Glu31888Asp)
c.95583A>T (p.Glu31861Asp)
c.77346A>T (p.Glu25782Asp)
c.67200A>T (p.Glu22400Asp)
2g.178532164T>CCA430235903TTN,TTN-AS1c.96747A>G (p.Glu32249=)
c.77832A>G (p.Glu25944=)
c.77631A>G (p.Glu25877=)
c.77256A>G (p.Glu25752=)
c.104451A>G (p.Glu34817=)
c.99528A>G (p.Glu33176=)
n.446+8528T>C
n.220-3568T>C
c.103548A>G (p.Glu34516=)
c.77442A>G (p.Glu25814=)
c.77301A>G (p.Glu25767=)
c.103344A>G (p.Glu34448=)
c.98742A>G (p.Glu32914=)
c.98739A>G (p.Glu32913=)
c.95781A>G (p.Glu31927=)
c.77397A>G (p.Glu25799=)
c.98892A>G (p.Glu32964=)
c.98889A>G (p.Glu32963=)
c.98322A>G (p.Glu32774=)
c.95664A>G (p.Glu31888=)
c.95583A>G (p.Glu31861=)
c.77346A>G (p.Glu25782=)
c.67200A>G (p.Glu22400=)
2g.178532164T>GCA349411703TTN,TTN-AS1c.96747A>C (p.Glu32249Asp)
c.77832A>C (p.Glu25944Asp)
c.77631A>C (p.Glu25877Asp)
c.77256A>C (p.Glu25752Asp)
c.104451A>C (p.Glu34817Asp)
c.99528A>C (p.Glu33176Asp)
n.446+8528T>G
n.220-3568T>G
c.103548A>C (p.Glu34516Asp)
c.77442A>C (p.Glu25814Asp)
c.77301A>C (p.Glu25767Asp)
c.103344A>C (p.Glu34448Asp)
c.98742A>C (p.Glu32914Asp)
c.98739A>C (p.Glu32913Asp)
c.95781A>C (p.Glu31927Asp)
c.77397A>C (p.Glu25799Asp)
c.98892A>C (p.Glu32964Asp)
c.98889A>C (p.Glu32963Asp)
c.98322A>C (p.Glu32774Asp)
c.95664A>C (p.Glu31888Asp)
c.95583A>C (p.Glu31861Asp)
c.77346A>C (p.Glu25782Asp)
c.67200A>C (p.Glu22400Asp)
2g.178532165T>ACA349411704TTN,TTN-AS1c.96746A>T (p.Glu32249Val)
c.77831A>T (p.Glu25944Val)
c.77630A>T (p.Glu25877Val)
c.77255A>T (p.Glu25752Val)
c.104450A>T (p.Glu34817Val)
c.99527A>T (p.Glu33176Val)
n.446+8529T>A
n.220-3567T>A
c.103547A>T (p.Glu34516Val)
c.77441A>T (p.Glu25814Val)
c.77300A>T (p.Glu25767Val)
c.103343A>T (p.Glu34448Val)
c.98741A>T (p.Glu32914Val)
c.98738A>T (p.Glu32913Val)
c.95780A>T (p.Glu31927Val)
c.77396A>T (p.Glu25799Val)
c.98891A>T (p.Glu32964Val)
c.98888A>T (p.Glu32963Val)
c.98321A>T (p.Glu32774Val)
c.95663A>T (p.Glu31888Val)
c.95582A>T (p.Glu31861Val)
c.77345A>T (p.Glu25782Val)
c.67199A>T (p.Glu22400Val)
2g.178532165T>CCA349411706TTN,TTN-AS1c.96746A>G (p.Glu32249Gly)
c.77831A>G (p.Glu25944Gly)
c.77630A>G (p.Glu25877Gly)
c.77255A>G (p.Glu25752Gly)
c.104450A>G (p.Glu34817Gly)
c.99527A>G (p.Glu33176Gly)
n.446+8529T>C
n.220-3567T>C
c.103547A>G (p.Glu34516Gly)
c.77441A>G (p.Glu25814Gly)
c.77300A>G (p.Glu25767Gly)
c.103343A>G (p.Glu34448Gly)
c.98741A>G (p.Glu32914Gly)
c.98738A>G (p.Glu32913Gly)
c.95780A>G (p.Glu31927Gly)
c.77396A>G (p.Glu25799Gly)
c.98891A>G (p.Glu32964Gly)
c.98888A>G (p.Glu32963Gly)
c.98321A>G (p.Glu32774Gly)
c.95663A>G (p.Glu31888Gly)
c.95582A>G (p.Glu31861Gly)
c.77345A>G (p.Glu25782Gly)
c.67199A>G (p.Glu22400Gly)
 ClinVar
2g.178532165T>GCA349411705TTN,TTN-AS1c.96746A>C (p.Glu32249Ala)
c.77831A>C (p.Glu25944Ala)
c.77630A>C (p.Glu25877Ala)
c.77255A>C (p.Glu25752Ala)
c.104450A>C (p.Glu34817Ala)
c.99527A>C (p.Glu33176Ala)
n.446+8529T>G
n.220-3567T>G
c.103547A>C (p.Glu34516Ala)
c.77441A>C (p.Glu25814Ala)
c.77300A>C (p.Glu25767Ala)
c.103343A>C (p.Glu34448Ala)
c.98741A>C (p.Glu32914Ala)
c.98738A>C (p.Glu32913Ala)
c.95780A>C (p.Glu31927Ala)
c.77396A>C (p.Glu25799Ala)
c.98891A>C (p.Glu32964Ala)
c.98888A>C (p.Glu32963Ala)
c.98321A>C (p.Glu32774Ala)
c.95663A>C (p.Glu31888Ala)
c.95582A>C (p.Glu31861Ala)
c.77345A>C (p.Glu25782Ala)
c.67199A>C (p.Glu22400Ala)
2g.178532167_178532169dupCA2740095956TTN,TTN-AS1c.96744_96746dup (p.Glu32249_Glu32250insGlu)
c.77829_77831dup (p.Glu25944_Glu25945insGlu)
c.77628_77630dup (p.Glu25877_Glu25878insGlu)
c.77253_77255dup (p.Glu25752_Glu25753insGlu)
c.104448_104450dup (p.Glu34817_Glu34818insGlu)
c.99525_99527dup (p.Glu33176_Glu33177insGlu)
n.446+8531_446+8533dup
n.220-3565_220-3563dup
c.103545_103547dup (p.Glu34516_Glu34517insGlu)
c.77439_77441dup (p.Glu25814_Glu25815insGlu)
c.77298_77300dup (p.Glu25767_Glu25768insGlu)
c.103341_103343dup (p.Glu34448_Glu34449insGlu)
c.98739_98741dup (p.Glu32914_Glu32915insGlu)
c.98736_98738dup (p.Glu32913_Glu32914insGlu)
c.95778_95780dup (p.Glu31927_Glu31928insGlu)
c.77394_77396dup (p.Glu25799_Glu25800insGlu)
c.98889_98891dup (p.Glu32964_Glu32965insGlu)
c.98886_98888dup (p.Glu32963_Glu32964insGlu)
c.98319_98321dup (p.Glu32774_Glu32775insGlu)
c.95661_95663dup (p.Glu31888_Glu31889insGlu)
c.95580_95582dup (p.Glu31861_Glu31862insGlu)
c.77343_77345dup (p.Glu25782_Glu25783insGlu)
c.67197_67199dup (p.Glu22400_Glu22401insGlu)
 ClinVar
2g.178532166C>ACA349411707TTN,TTN-AS1c.96745G>T (p.Glu32249Ter)
c.77830G>T (p.Glu25944Ter)
c.77629G>T (p.Glu25877Ter)
c.77254G>T (p.Glu25752Ter)
c.104449G>T (p.Glu34817Ter)
c.99526G>T (p.Glu33176Ter)
n.446+8530C>A
n.220-3566C>A
c.103546G>T (p.Glu34516Ter)
c.77440G>T (p.Glu25814Ter)
c.77299G>T (p.Glu25767Ter)
c.103342G>T (p.Glu34448Ter)
c.98740G>T (p.Glu32914Ter)
c.98737G>T (p.Glu32913Ter)
c.95779G>T (p.Glu31927Ter)
c.77395G>T (p.Glu25799Ter)
c.98890G>T (p.Glu32964Ter)
c.98887G>T (p.Glu32963Ter)
c.98320G>T (p.Glu32774Ter)
c.95662G>T (p.Glu31888Ter)
c.95581G>T (p.Glu31861Ter)
c.77344G>T (p.Glu25782Ter)
c.67198G>T (p.Glu22400Ter)
2g.178532166C=CA1310518108TTN,TTN-AS1c.96745G= (p.Glu32249=)
c.77830G= (p.Glu25944=)
c.77629G= (p.Glu25877=)
c.77254G= (p.Glu25752=)
c.104449G= (p.Glu34817=)
c.99526G= (p.Glu33176=)
n.446+8530C=
n.220-3566C=
c.103546G= (p.Glu34516=)
c.77440G= (p.Glu25814=)
c.77299G= (p.Glu25767=)
c.103342G= (p.Glu34448=)
c.98740G= (p.Glu32914=)
c.98737G= (p.Glu32913=)
c.95779G= (p.Glu31927=)
c.77395G= (p.Glu25799=)
c.98890G= (p.Glu32964=)
c.98887G= (p.Glu32963=)
c.98320G= (p.Glu32774=)
c.95662G= (p.Glu31888=)
c.95581G= (p.Glu31861=)
c.77344G= (p.Glu25782=)
c.67198G= (p.Glu22400=)
2g.178532166C>GCA349411709TTN,TTN-AS1c.96745G>C (p.Glu32249Gln)
c.77830G>C (p.Glu25944Gln)
c.77629G>C (p.Glu25877Gln)
c.77254G>C (p.Glu25752Gln)
c.104449G>C (p.Glu34817Gln)
c.99526G>C (p.Glu33176Gln)
n.446+8530C>G
n.220-3566C>G
c.103546G>C (p.Glu34516Gln)
c.77440G>C (p.Glu25814Gln)
c.77299G>C (p.Glu25767Gln)
c.103342G>C (p.Glu34448Gln)
c.98740G>C (p.Glu32914Gln)
c.98737G>C (p.Glu32913Gln)
c.95779G>C (p.Glu31927Gln)
c.77395G>C (p.Glu25799Gln)
c.98890G>C (p.Glu32964Gln)
c.98887G>C (p.Glu32963Gln)
c.98320G>C (p.Glu32774Gln)
c.95662G>C (p.Glu31888Gln)
c.95581G>C (p.Glu31861Gln)
c.77344G>C (p.Glu25782Gln)
c.67198G>C (p.Glu22400Gln)
2g.178532166C>TCA349411708TTN,TTN-AS1c.96745G>A (p.Glu32249Lys)
c.77830G>A (p.Glu25944Lys)
c.77629G>A (p.Glu25877Lys)
c.77254G>A (p.Glu25752Lys)
c.104449G>A (p.Glu34817Lys)
c.99526G>A (p.Glu33176Lys)
n.446+8530C>T
n.220-3566C>T
c.103546G>A (p.Glu34516Lys)
c.77440G>A (p.Glu25814Lys)
c.77299G>A (p.Glu25767Lys)
c.103342G>A (p.Glu34448Lys)
c.98740G>A (p.Glu32914Lys)
c.98737G>A (p.Glu32913Lys)
c.95779G>A (p.Glu31927Lys)
c.77395G>A (p.Glu25799Lys)
c.98890G>A (p.Glu32964Lys)
c.98887G>A (p.Glu32963Lys)
c.98320G>A (p.Glu32774Lys)
c.95662G>A (p.Glu31888Lys)
c.95581G>A (p.Glu31861Lys)
c.77344G>A (p.Glu25782Lys)
c.67198G>A (p.Glu22400Lys)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532167C>ACA349411710TTN,TTN-AS1c.96744G>T (p.Glu32248Asp)
c.77829G>T (p.Glu25943Asp)
c.77628G>T (p.Glu25876Asp)
c.77253G>T (p.Glu25751Asp)
c.104448G>T (p.Glu34816Asp)
c.99525G>T (p.Glu33175Asp)
n.446+8531C>A
n.220-3565C>A
c.103545G>T (p.Glu34515Asp)
c.77439G>T (p.Glu25813Asp)
c.77298G>T (p.Glu25766Asp)
c.103341G>T (p.Glu34447Asp)
c.98739G>T (p.Glu32913Asp)
c.98736G>T (p.Glu32912Asp)
c.95778G>T (p.Glu31926Asp)
c.77394G>T (p.Glu25798Asp)
c.98889G>T (p.Glu32963Asp)
c.98886G>T (p.Glu32962Asp)
c.98319G>T (p.Glu32773Asp)
c.95661G>T (p.Glu31887Asp)
c.95580G>T (p.Glu31860Asp)
c.77343G>T (p.Glu25781Asp)
c.67197G>T (p.Glu22399Asp)
2g.178532167C=CA1310518109TTN,TTN-AS1c.96744G= (p.Glu32248=)
c.77829G= (p.Glu25943=)
c.77628G= (p.Glu25876=)
c.77253G= (p.Glu25751=)
c.104448G= (p.Glu34816=)
c.99525G= (p.Glu33175=)
n.446+8531C=
n.220-3565C=
c.103545G= (p.Glu34515=)
c.77439G= (p.Glu25813=)
c.77298G= (p.Glu25766=)
c.103341G= (p.Glu34447=)
c.98739G= (p.Glu32913=)
c.98736G= (p.Glu32912=)
c.95778G= (p.Glu31926=)
c.77394G= (p.Glu25798=)
c.98889G= (p.Glu32963=)
c.98886G= (p.Glu32962=)
c.98319G= (p.Glu32773=)
c.95661G= (p.Glu31887=)
c.95580G= (p.Glu31860=)
c.77343G= (p.Glu25781=)
c.67197G= (p.Glu22399=)
2g.178532167C>GCA349411711TTN,TTN-AS1c.96744G>C (p.Glu32248Asp)
c.77829G>C (p.Glu25943Asp)
c.77628G>C (p.Glu25876Asp)
c.77253G>C (p.Glu25751Asp)
c.104448G>C (p.Glu34816Asp)
c.99525G>C (p.Glu33175Asp)
n.446+8531C>G
n.220-3565C>G
c.103545G>C (p.Glu34515Asp)
c.77439G>C (p.Glu25813Asp)
c.77298G>C (p.Glu25766Asp)
c.103341G>C (p.Glu34447Asp)
c.98739G>C (p.Glu32913Asp)
c.98736G>C (p.Glu32912Asp)
c.95778G>C (p.Glu31926Asp)
c.77394G>C (p.Glu25798Asp)
c.98889G>C (p.Glu32963Asp)
c.98886G>C (p.Glu32962Asp)
c.98319G>C (p.Glu32773Asp)
c.95661G>C (p.Glu31887Asp)
c.95580G>C (p.Glu31860Asp)
c.77343G>C (p.Glu25781Asp)
c.67197G>C (p.Glu22399Asp)
 ClinVar dbSNP
2g.178532167C>TCA430235904TTN,TTN-AS1c.96744G>A (p.Glu32248=)
c.77829G>A (p.Glu25943=)
c.77628G>A (p.Glu25876=)
c.77253G>A (p.Glu25751=)
c.104448G>A (p.Glu34816=)
c.99525G>A (p.Glu33175=)
n.446+8531C>T
n.220-3565C>T
c.103545G>A (p.Glu34515=)
c.77439G>A (p.Glu25813=)
c.77298G>A (p.Glu25766=)
c.103341G>A (p.Glu34447=)
c.98739G>A (p.Glu32913=)
c.98736G>A (p.Glu32912=)
c.95778G>A (p.Glu31926=)
c.77394G>A (p.Glu25798=)
c.98889G>A (p.Glu32963=)
c.98886G>A (p.Glu32962=)
c.98319G>A (p.Glu32773=)
c.95661G>A (p.Glu31887=)
c.95580G>A (p.Glu31860=)
c.77343G>A (p.Glu25781=)
c.67197G>A (p.Glu22399=)
2g.178532168T>ACA349411712TTN,TTN-AS1c.96743A>T (p.Glu32248Val)
c.77828A>T (p.Glu25943Val)
c.77627A>T (p.Glu25876Val)
c.77252A>T (p.Glu25751Val)
c.104447A>T (p.Glu34816Val)
c.99524A>T (p.Glu33175Val)
n.446+8532T>A
n.220-3564T>A
c.103544A>T (p.Glu34515Val)
c.77438A>T (p.Glu25813Val)
c.77297A>T (p.Glu25766Val)
c.103340A>T (p.Glu34447Val)
c.98738A>T (p.Glu32913Val)
c.98735A>T (p.Glu32912Val)
c.95777A>T (p.Glu31926Val)
c.77393A>T (p.Glu25798Val)
c.98888A>T (p.Glu32963Val)
c.98885A>T (p.Glu32962Val)
c.98318A>T (p.Glu32773Val)
c.95660A>T (p.Glu31887Val)
c.95579A>T (p.Glu31860Val)
c.77342A>T (p.Glu25781Val)
c.67196A>T (p.Glu22399Val)
2g.178532168T>CCA1985426TTN,TTN-AS1c.96743A>G (p.Glu32248Gly)
c.77828A>G (p.Glu25943Gly)
c.77627A>G (p.Glu25876Gly)
c.77252A>G (p.Glu25751Gly)
c.104447A>G (p.Glu34816Gly)
c.99524A>G (p.Glu33175Gly)
n.446+8532T>C
n.220-3564T>C
c.103544A>G (p.Glu34515Gly)
c.77438A>G (p.Glu25813Gly)
c.77297A>G (p.Glu25766Gly)
c.103340A>G (p.Glu34447Gly)
c.98738A>G (p.Glu32913Gly)
c.98735A>G (p.Glu32912Gly)
c.95777A>G (p.Glu31926Gly)
c.77393A>G (p.Glu25798Gly)
c.98888A>G (p.Glu32963Gly)
c.98885A>G (p.Glu32962Gly)
c.98318A>G (p.Glu32773Gly)
c.95660A>G (p.Glu31887Gly)
c.95579A>G (p.Glu31860Gly)
c.77342A>G (p.Glu25781Gly)
c.67196A>G (p.Glu22399Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532168T>GCA349411713TTN,TTN-AS1c.96743A>C (p.Glu32248Ala)
c.77828A>C (p.Glu25943Ala)
c.77627A>C (p.Glu25876Ala)
c.77252A>C (p.Glu25751Ala)
c.104447A>C (p.Glu34816Ala)
c.99524A>C (p.Glu33175Ala)
n.446+8532T>G
n.220-3564T>G
c.103544A>C (p.Glu34515Ala)
c.77438A>C (p.Glu25813Ala)
c.77297A>C (p.Glu25766Ala)
c.103340A>C (p.Glu34447Ala)
c.98738A>C (p.Glu32913Ala)
c.98735A>C (p.Glu32912Ala)
c.95777A>C (p.Glu31926Ala)
c.77393A>C (p.Glu25798Ala)
c.98888A>C (p.Glu32963Ala)
c.98885A>C (p.Glu32962Ala)
c.98318A>C (p.Glu32773Ala)
c.95660A>C (p.Glu31887Ala)
c.95579A>C (p.Glu31860Ala)
c.77342A>C (p.Glu25781Ala)
c.67196A>C (p.Glu22399Ala)
2g.178532168T=CA1310518110TTN,TTN-AS1c.96743A= (p.Glu32248=)
c.77828A= (p.Glu25943=)
c.77627A= (p.Glu25876=)
c.77252A= (p.Glu25751=)
c.104447A= (p.Glu34816=)
c.99524A= (p.Glu33175=)
n.446+8532T=
n.220-3564T=
c.103544A= (p.Glu34515=)
c.77438A= (p.Glu25813=)
c.77297A= (p.Glu25766=)
c.103340A= (p.Glu34447=)
c.98738A= (p.Glu32913=)
c.98735A= (p.Glu32912=)
c.95777A= (p.Glu31926=)
c.77393A= (p.Glu25798=)
c.98888A= (p.Glu32963=)
c.98885A= (p.Glu32962=)
c.98318A= (p.Glu32773=)
c.95660A= (p.Glu31887=)
c.95579A= (p.Glu31860=)
c.77342A= (p.Glu25781=)
c.67196A= (p.Glu22399=)
2g.178532169C>ACA349411714TTN,TTN-AS1c.96742G>T (p.Glu32248Ter)
c.77827G>T (p.Glu25943Ter)
c.77626G>T (p.Glu25876Ter)
c.77251G>T (p.Glu25751Ter)
c.104446G>T (p.Glu34816Ter)
c.99523G>T (p.Glu33175Ter)
n.446+8533C>A
n.220-3563C>A
c.103543G>T (p.Glu34515Ter)
c.77437G>T (p.Glu25813Ter)
c.77296G>T (p.Glu25766Ter)
c.103339G>T (p.Glu34447Ter)
c.98737G>T (p.Glu32913Ter)
c.98734G>T (p.Glu32912Ter)
c.95776G>T (p.Glu31926Ter)
c.77392G>T (p.Glu25798Ter)
c.98887G>T (p.Glu32963Ter)
c.98884G>T (p.Glu32962Ter)
c.98317G>T (p.Glu32773Ter)
c.95659G>T (p.Glu31887Ter)
c.95578G>T (p.Glu31860Ter)
c.77341G>T (p.Glu25781Ter)
c.67195G>T (p.Glu22399Ter)
2g.178532169C>GCA349411715TTN,TTN-AS1c.96742G>C (p.Glu32248Gln)
c.77827G>C (p.Glu25943Gln)
c.77626G>C (p.Glu25876Gln)
c.77251G>C (p.Glu25751Gln)
c.104446G>C (p.Glu34816Gln)
c.99523G>C (p.Glu33175Gln)
n.446+8533C>G
n.220-3563C>G
c.103543G>C (p.Glu34515Gln)
c.77437G>C (p.Glu25813Gln)
c.77296G>C (p.Glu25766Gln)
c.103339G>C (p.Glu34447Gln)
c.98737G>C (p.Glu32913Gln)
c.98734G>C (p.Glu32912Gln)
c.95776G>C (p.Glu31926Gln)
c.77392G>C (p.Glu25798Gln)
c.98887G>C (p.Glu32963Gln)
c.98884G>C (p.Glu32962Gln)
c.98317G>C (p.Glu32773Gln)
c.95659G>C (p.Glu31887Gln)
c.95578G>C (p.Glu31860Gln)
c.77341G>C (p.Glu25781Gln)
c.67195G>C (p.Glu22399Gln)
2g.178532169C>TCA349411716TTN,TTN-AS1c.96742G>A (p.Glu32248Lys)
c.77827G>A (p.Glu25943Lys)
c.77626G>A (p.Glu25876Lys)
c.77251G>A (p.Glu25751Lys)
c.104446G>A (p.Glu34816Lys)
c.99523G>A (p.Glu33175Lys)
n.446+8533C>T
n.220-3563C>T
c.103543G>A (p.Glu34515Lys)
c.77437G>A (p.Glu25813Lys)
c.77296G>A (p.Glu25766Lys)
c.103339G>A (p.Glu34447Lys)
c.98737G>A (p.Glu32913Lys)
c.98734G>A (p.Glu32912Lys)
c.95776G>A (p.Glu31926Lys)
c.77392G>A (p.Glu25798Lys)
c.98887G>A (p.Glu32963Lys)
c.98884G>A (p.Glu32962Lys)
c.98317G>A (p.Glu32773Lys)
c.95659G>A (p.Glu31887Lys)
c.95578G>A (p.Glu31860Lys)
c.77341G>A (p.Glu25781Lys)
c.67195G>A (p.Glu22399Lys)
 dbSNP gnomAD v4
2g.178532170A>CCA349411717TTN,TTN-AS1c.96741T>G (p.Ile32247Met)
c.77826T>G (p.Ile25942Met)
c.77625T>G (p.Ile25875Met)
c.77250T>G (p.Ile25750Met)
c.104445T>G (p.Ile34815Met)
c.99522T>G (p.Ile33174Met)
n.446+8534A>C
n.220-3562A>C
c.103542T>G (p.Ile34514Met)
c.77436T>G (p.Ile25812Met)
c.77295T>G (p.Ile25765Met)
c.103338T>G (p.Ile34446Met)
c.98736T>G (p.Ile32912Met)
c.98733T>G (p.Ile32911Met)
c.95775T>G (p.Ile31925Met)
c.77391T>G (p.Ile25797Met)
c.98886T>G (p.Ile32962Met)
c.98883T>G (p.Ile32961Met)
c.98316T>G (p.Ile32772Met)
c.95658T>G (p.Ile31886Met)
c.95577T>G (p.Ile31859Met)
c.77340T>G (p.Ile25780Met)
c.67194T>G (p.Ile22398Met)
2g.178532170A>GCA430235905TTN,TTN-AS1c.96741T>C (p.Ile32247=)
c.77826T>C (p.Ile25942=)
c.77625T>C (p.Ile25875=)
c.77250T>C (p.Ile25750=)
c.104445T>C (p.Ile34815=)
c.99522T>C (p.Ile33174=)
n.446+8534A>G
n.220-3562A>G
c.103542T>C (p.Ile34514=)
c.77436T>C (p.Ile25812=)
c.77295T>C (p.Ile25765=)
c.103338T>C (p.Ile34446=)
c.98736T>C (p.Ile32912=)
c.98733T>C (p.Ile32911=)
c.95775T>C (p.Ile31925=)
c.77391T>C (p.Ile25797=)
c.98886T>C (p.Ile32962=)
c.98883T>C (p.Ile32961=)
c.98316T>C (p.Ile32772=)
c.95658T>C (p.Ile31886=)
c.95577T>C (p.Ile31859=)
c.77340T>C (p.Ile25780=)
c.67194T>C (p.Ile22398=)
2g.178532170A>TCA430235906TTN,TTN-AS1c.96741T>A (p.Ile32247=)
c.77826T>A (p.Ile25942=)
c.77625T>A (p.Ile25875=)
c.77250T>A (p.Ile25750=)
c.104445T>A (p.Ile34815=)
c.99522T>A (p.Ile33174=)
n.446+8534A>T
n.220-3562A>T
c.103542T>A (p.Ile34514=)
c.77436T>A (p.Ile25812=)
c.77295T>A (p.Ile25765=)
c.103338T>A (p.Ile34446=)
c.98736T>A (p.Ile32912=)
c.98733T>A (p.Ile32911=)
c.95775T>A (p.Ile31925=)
c.77391T>A (p.Ile25797=)
c.98886T>A (p.Ile32962=)
c.98883T>A (p.Ile32961=)
c.98316T>A (p.Ile32772=)
c.95658T>A (p.Ile31886=)
c.95577T>A (p.Ile31859=)
c.77340T>A (p.Ile25780=)
c.67194T>A (p.Ile22398=)
2g.178532171A=CA1310518111TTN,TTN-AS1c.96740T= (p.Ile32247=)
c.77825T= (p.Ile25942=)
c.77624T= (p.Ile25875=)
c.77249T= (p.Ile25750=)
c.104444T= (p.Ile34815=)
c.99521T= (p.Ile33174=)
n.446+8535A=
n.220-3561A=
c.103541T= (p.Ile34514=)
c.77435T= (p.Ile25812=)
c.77294T= (p.Ile25765=)
c.103337T= (p.Ile34446=)
c.98735T= (p.Ile32912=)
c.98732T= (p.Ile32911=)
c.95774T= (p.Ile31925=)
c.77390T= (p.Ile25797=)
c.98885T= (p.Ile32962=)
c.98882T= (p.Ile32961=)
c.98315T= (p.Ile32772=)
c.95657T= (p.Ile31886=)
c.95576T= (p.Ile31859=)
c.77339T= (p.Ile25780=)
c.67193T= (p.Ile22398=)
2g.178532171A>CCA349411718TTN,TTN-AS1c.96740T>G (p.Ile32247Ser)
c.77825T>G (p.Ile25942Ser)
c.77624T>G (p.Ile25875Ser)
c.77249T>G (p.Ile25750Ser)
c.104444T>G (p.Ile34815Ser)
c.99521T>G (p.Ile33174Ser)
n.446+8535A>C
n.220-3561A>C
c.103541T>G (p.Ile34514Ser)
c.77435T>G (p.Ile25812Ser)
c.77294T>G (p.Ile25765Ser)
c.103337T>G (p.Ile34446Ser)
c.98735T>G (p.Ile32912Ser)
c.98732T>G (p.Ile32911Ser)
c.95774T>G (p.Ile31925Ser)
c.77390T>G (p.Ile25797Ser)
c.98885T>G (p.Ile32962Ser)
c.98882T>G (p.Ile32961Ser)
c.98315T>G (p.Ile32772Ser)
c.95657T>G (p.Ile31886Ser)
c.95576T>G (p.Ile31859Ser)
c.77339T>G (p.Ile25780Ser)
c.67193T>G (p.Ile22398Ser)
2g.178532171A>GCA60956221TTN,TTN-AS1c.96740T>C (p.Ile32247Thr)
c.77825T>C (p.Ile25942Thr)
c.77624T>C (p.Ile25875Thr)
c.77249T>C (p.Ile25750Thr)
c.104444T>C (p.Ile34815Thr)
c.99521T>C (p.Ile33174Thr)
n.446+8535A>G
n.220-3561A>G
c.103541T>C (p.Ile34514Thr)
c.77435T>C (p.Ile25812Thr)
c.77294T>C (p.Ile25765Thr)
c.103337T>C (p.Ile34446Thr)
c.98735T>C (p.Ile32912Thr)
c.98732T>C (p.Ile32911Thr)
c.95774T>C (p.Ile31925Thr)
c.77390T>C (p.Ile25797Thr)
c.98885T>C (p.Ile32962Thr)
c.98882T>C (p.Ile32961Thr)
c.98315T>C (p.Ile32772Thr)
c.95657T>C (p.Ile31886Thr)
c.95576T>C (p.Ile31859Thr)
c.77339T>C (p.Ile25780Thr)
c.67193T>C (p.Ile22398Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.178532171A>TCA349411719TTN,TTN-AS1c.96740T>A (p.Ile32247Asn)
c.77825T>A (p.Ile25942Asn)
c.77624T>A (p.Ile25875Asn)
c.77249T>A (p.Ile25750Asn)
c.104444T>A (p.Ile34815Asn)
c.99521T>A (p.Ile33174Asn)
n.446+8535A>T
n.220-3561A>T
c.103541T>A (p.Ile34514Asn)
c.77435T>A (p.Ile25812Asn)
c.77294T>A (p.Ile25765Asn)
c.103337T>A (p.Ile34446Asn)
c.98735T>A (p.Ile32912Asn)
c.98732T>A (p.Ile32911Asn)
c.95774T>A (p.Ile31925Asn)
c.77390T>A (p.Ile25797Asn)
c.98885T>A (p.Ile32962Asn)
c.98882T>A (p.Ile32961Asn)
c.98315T>A (p.Ile32772Asn)
c.95657T>A (p.Ile31886Asn)
c.95576T>A (p.Ile31859Asn)
c.77339T>A (p.Ile25780Asn)
c.67193T>A (p.Ile22398Asn)
 gnomAD v4
2g.178532172T>ACA349411720TTN,TTN-AS1c.96739A>T (p.Ile32247Phe)
c.77824A>T (p.Ile25942Phe)
c.77623A>T (p.Ile25875Phe)
c.77248A>T (p.Ile25750Phe)
c.104443A>T (p.Ile34815Phe)
c.99520A>T (p.Ile33174Phe)
n.446+8536T>A
n.220-3560T>A
c.103540A>T (p.Ile34514Phe)
c.77434A>T (p.Ile25812Phe)
c.77293A>T (p.Ile25765Phe)
c.103336A>T (p.Ile34446Phe)
c.98734A>T (p.Ile32912Phe)
c.98731A>T (p.Ile32911Phe)
c.95773A>T (p.Ile31925Phe)
c.77389A>T (p.Ile25797Phe)
c.98884A>T (p.Ile32962Phe)
c.98881A>T (p.Ile32961Phe)
c.98314A>T (p.Ile32772Phe)
c.95656A>T (p.Ile31886Phe)
c.95575A>T (p.Ile31859Phe)
c.77338A>T (p.Ile25780Phe)
c.67192A>T (p.Ile22398Phe)
2g.178532172T>CCA349411721TTN,TTN-AS1c.96739A>G (p.Ile32247Val)
c.77824A>G (p.Ile25942Val)
c.77623A>G (p.Ile25875Val)
c.77248A>G (p.Ile25750Val)
c.104443A>G (p.Ile34815Val)
c.99520A>G (p.Ile33174Val)
n.446+8536T>C
n.220-3560T>C
c.103540A>G (p.Ile34514Val)
c.77434A>G (p.Ile25812Val)
c.77293A>G (p.Ile25765Val)
c.103336A>G (p.Ile34446Val)
c.98734A>G (p.Ile32912Val)
c.98731A>G (p.Ile32911Val)
c.95773A>G (p.Ile31925Val)
c.77389A>G (p.Ile25797Val)
c.98884A>G (p.Ile32962Val)
c.98881A>G (p.Ile32961Val)
c.98314A>G (p.Ile32772Val)
c.95656A>G (p.Ile31886Val)
c.95575A>G (p.Ile31859Val)
c.77338A>G (p.Ile25780Val)
c.67192A>G (p.Ile22398Val)
2g.178532172T>GCA349411722TTN,TTN-AS1c.96739A>C (p.Ile32247Leu)
c.77824A>C (p.Ile25942Leu)
c.77623A>C (p.Ile25875Leu)
c.77248A>C (p.Ile25750Leu)
c.104443A>C (p.Ile34815Leu)
c.99520A>C (p.Ile33174Leu)
n.446+8536T>G
n.220-3560T>G
c.103540A>C (p.Ile34514Leu)
c.77434A>C (p.Ile25812Leu)
c.77293A>C (p.Ile25765Leu)
c.103336A>C (p.Ile34446Leu)
c.98734A>C (p.Ile32912Leu)
c.98731A>C (p.Ile32911Leu)
c.95773A>C (p.Ile31925Leu)
c.77389A>C (p.Ile25797Leu)
c.98884A>C (p.Ile32962Leu)
c.98881A>C (p.Ile32961Leu)
c.98314A>C (p.Ile32772Leu)
c.95656A>C (p.Ile31886Leu)
c.95575A>C (p.Ile31859Leu)
c.77338A>C (p.Ile25780Leu)
c.67192A>C (p.Ile22398Leu)
2g.178532173T>ACA349411723TTN,TTN-AS1c.96738A>T (p.Glu32246Asp)
c.77823A>T (p.Glu25941Asp)
c.77622A>T (p.Glu25874Asp)
c.77247A>T (p.Glu25749Asp)
c.104442A>T (p.Glu34814Asp)
c.99519A>T (p.Glu33173Asp)
n.446+8537T>A
n.220-3559T>A
c.103539A>T (p.Glu34513Asp)
c.77433A>T (p.Glu25811Asp)
c.77292A>T (p.Glu25764Asp)
c.103335A>T (p.Glu34445Asp)
c.98733A>T (p.Glu32911Asp)
c.98730A>T (p.Glu32910Asp)
c.95772A>T (p.Glu31924Asp)
c.77388A>T (p.Glu25796Asp)
c.98883A>T (p.Glu32961Asp)
c.98880A>T (p.Glu32960Asp)
c.98313A>T (p.Glu32771Asp)
c.95655A>T (p.Glu31885Asp)
c.95574A>T (p.Glu31858Asp)
c.77337A>T (p.Glu25779Asp)
c.67191A>T (p.Glu22397Asp)
2g.178532173T>CCA430235907TTN,TTN-AS1c.96738A>G (p.Glu32246=)
c.77823A>G (p.Glu25941=)
c.77622A>G (p.Glu25874=)
c.77247A>G (p.Glu25749=)
c.104442A>G (p.Glu34814=)
c.99519A>G (p.Glu33173=)
n.446+8537T>C
n.220-3559T>C
c.103539A>G (p.Glu34513=)
c.77433A>G (p.Glu25811=)
c.77292A>G (p.Glu25764=)
c.103335A>G (p.Glu34445=)
c.98733A>G (p.Glu32911=)
c.98730A>G (p.Glu32910=)
c.95772A>G (p.Glu31924=)
c.77388A>G (p.Glu25796=)
c.98883A>G (p.Glu32961=)
c.98880A>G (p.Glu32960=)
c.98313A>G (p.Glu32771=)
c.95655A>G (p.Glu31885=)
c.95574A>G (p.Glu31858=)
c.77337A>G (p.Glu25779=)
c.67191A>G (p.Glu22397=)
2g.178532173T>GCA349411724TTN,TTN-AS1c.96738A>C (p.Glu32246Asp)
c.77823A>C (p.Glu25941Asp)
c.77622A>C (p.Glu25874Asp)
c.77247A>C (p.Glu25749Asp)
c.104442A>C (p.Glu34814Asp)
c.99519A>C (p.Glu33173Asp)
n.446+8537T>G
n.220-3559T>G
c.103539A>C (p.Glu34513Asp)
c.77433A>C (p.Glu25811Asp)
c.77292A>C (p.Glu25764Asp)
c.103335A>C (p.Glu34445Asp)
c.98733A>C (p.Glu32911Asp)
c.98730A>C (p.Glu32910Asp)
c.95772A>C (p.Glu31924Asp)
c.77388A>C (p.Glu25796Asp)
c.98883A>C (p.Glu32961Asp)
c.98880A>C (p.Glu32960Asp)
c.98313A>C (p.Glu32771Asp)
c.95655A>C (p.Glu31885Asp)
c.95574A>C (p.Glu31858Asp)
c.77337A>C (p.Glu25779Asp)
c.67191A>C (p.Glu22397Asp)
2g.178532174T>ACA349411725TTN,TTN-AS1c.96737A>T (p.Glu32246Val)
c.77822A>T (p.Glu25941Val)
c.77621A>T (p.Glu25874Val)
c.77246A>T (p.Glu25749Val)
c.104441A>T (p.Glu34814Val)
c.99518A>T (p.Glu33173Val)
n.446+8538T>A
n.220-3558T>A
c.103538A>T (p.Glu34513Val)
c.77432A>T (p.Glu25811Val)
c.77291A>T (p.Glu25764Val)
c.103334A>T (p.Glu34445Val)
c.98732A>T (p.Glu32911Val)
c.98729A>T (p.Glu32910Val)
c.95771A>T (p.Glu31924Val)
c.77387A>T (p.Glu25796Val)
c.98882A>T (p.Glu32961Val)
c.98879A>T (p.Glu32960Val)
c.98312A>T (p.Glu32771Val)
c.95654A>T (p.Glu31885Val)
c.95573A>T (p.Glu31858Val)
c.77336A>T (p.Glu25779Val)
c.67190A>T (p.Glu22397Val)
2g.178532174T>CCA349411726TTN,TTN-AS1c.96737A>G (p.Glu32246Gly)
c.77822A>G (p.Glu25941Gly)
c.77621A>G (p.Glu25874Gly)
c.77246A>G (p.Glu25749Gly)
c.104441A>G (p.Glu34814Gly)
c.99518A>G (p.Glu33173Gly)
n.446+8538T>C
n.220-3558T>C
c.103538A>G (p.Glu34513Gly)
c.77432A>G (p.Glu25811Gly)
c.77291A>G (p.Glu25764Gly)
c.103334A>G (p.Glu34445Gly)
c.98732A>G (p.Glu32911Gly)
c.98729A>G (p.Glu32910Gly)
c.95771A>G (p.Glu31924Gly)
c.77387A>G (p.Glu25796Gly)
c.98882A>G (p.Glu32961Gly)
c.98879A>G (p.Glu32960Gly)
c.98312A>G (p.Glu32771Gly)
c.95654A>G (p.Glu31885Gly)
c.95573A>G (p.Glu31858Gly)
c.77336A>G (p.Glu25779Gly)
c.67190A>G (p.Glu22397Gly)
2g.178532174T>GCA349411727TTN,TTN-AS1c.96737A>C (p.Glu32246Ala)
c.77822A>C (p.Glu25941Ala)
c.77621A>C (p.Glu25874Ala)
c.77246A>C (p.Glu25749Ala)
c.104441A>C (p.Glu34814Ala)
c.99518A>C (p.Glu33173Ala)
n.446+8538T>G
n.220-3558T>G
c.103538A>C (p.Glu34513Ala)
c.77432A>C (p.Glu25811Ala)
c.77291A>C (p.Glu25764Ala)
c.103334A>C (p.Glu34445Ala)
c.98732A>C (p.Glu32911Ala)
c.98729A>C (p.Glu32910Ala)
c.95771A>C (p.Glu31924Ala)
c.77387A>C (p.Glu25796Ala)
c.98882A>C (p.Glu32961Ala)
c.98879A>C (p.Glu32960Ala)
c.98312A>C (p.Glu32771Ala)
c.95654A>C (p.Glu31885Ala)
c.95573A>C (p.Glu31858Ala)
c.77336A>C (p.Glu25779Ala)
c.67190A>C (p.Glu22397Ala)
2g.178532175_178532176delCA2662123808TTN,TTN-AS1c.96736_96737del (p.Glu32246AsnfsTer2)
c.77821_77822del (p.Glu25941AsnfsTer2)
c.77620_77621del (p.Glu25874AsnfsTer2)
c.77245_77246del (p.Glu25749AsnfsTer2)
c.104440_104441del (p.Glu34814AsnfsTer2)
c.99517_99518del (p.Glu33173AsnfsTer2)
n.446+8539_446+8540del
n.220-3557_220-3556del
c.103537_103538del (p.Glu34513AsnfsTer2)
c.77431_77432del (p.Glu25811AsnfsTer2)
c.77290_77291del (p.Glu25764AsnfsTer2)
c.103333_103334del (p.Glu34445AsnfsTer2)
c.98731_98732del (p.Glu32911AsnfsTer2)
c.98728_98729del (p.Glu32910AsnfsTer2)
c.95770_95771del (p.Glu31924AsnfsTer2)
c.77386_77387del (p.Glu25796AsnfsTer2)
c.98881_98882del (p.Glu32961AsnfsTer2)
c.98878_98879del (p.Glu32960AsnfsTer2)
c.98311_98312del (p.Glu32771AsnfsTer2)
c.95653_95654del (p.Glu31885AsnfsTer2)
c.95572_95573del (p.Glu31858AsnfsTer2)
c.77335_77336del (p.Glu25779AsnfsTer2)
c.67189_67190del (p.Glu22397AsnfsTer2)
 gnomAD v4
2g.178532175C>ACA349411728TTN,TTN-AS1c.96736G>T (p.Glu32246Ter)
c.77821G>T (p.Glu25941Ter)
c.77620G>T (p.Glu25874Ter)
c.77245G>T (p.Glu25749Ter)
c.104440G>T (p.Glu34814Ter)
c.99517G>T (p.Glu33173Ter)
n.446+8539C>A
n.220-3557C>A
c.103537G>T (p.Glu34513Ter)
c.77431G>T (p.Glu25811Ter)
c.77290G>T (p.Glu25764Ter)
c.103333G>T (p.Glu34445Ter)
c.98731G>T (p.Glu32911Ter)
c.98728G>T (p.Glu32910Ter)
c.95770G>T (p.Glu31924Ter)
c.77386G>T (p.Glu25796Ter)
c.98881G>T (p.Glu32961Ter)
c.98878G>T (p.Glu32960Ter)
c.98311G>T (p.Glu32771Ter)
c.95653G>T (p.Glu31885Ter)
c.95572G>T (p.Glu31858Ter)
c.77335G>T (p.Glu25779Ter)
c.67189G>T (p.Glu22397Ter)
2g.178532175C>GCA349411729TTN,TTN-AS1c.96736G>C (p.Glu32246Gln)
c.77821G>C (p.Glu25941Gln)
c.77620G>C (p.Glu25874Gln)
c.77245G>C (p.Glu25749Gln)
c.104440G>C (p.Glu34814Gln)
c.99517G>C (p.Glu33173Gln)
n.446+8539C>G
n.220-3557C>G
c.103537G>C (p.Glu34513Gln)
c.77431G>C (p.Glu25811Gln)
c.77290G>C (p.Glu25764Gln)
c.103333G>C (p.Glu34445Gln)
c.98731G>C (p.Glu32911Gln)
c.98728G>C (p.Glu32910Gln)
c.95770G>C (p.Glu31924Gln)
c.77386G>C (p.Glu25796Gln)
c.98881G>C (p.Glu32961Gln)
c.98878G>C (p.Glu32960Gln)
c.98311G>C (p.Glu32771Gln)
c.95653G>C (p.Glu31885Gln)
c.95572G>C (p.Glu31858Gln)
c.77335G>C (p.Glu25779Gln)
c.67189G>C (p.Glu22397Gln)
2g.178532175C>TCA349411730TTN,TTN-AS1c.96736G>A (p.Glu32246Lys)
c.77821G>A (p.Glu25941Lys)
c.77620G>A (p.Glu25874Lys)
c.77245G>A (p.Glu25749Lys)
c.104440G>A (p.Glu34814Lys)
c.99517G>A (p.Glu33173Lys)
n.446+8539C>T
n.220-3557C>T
c.103537G>A (p.Glu34513Lys)
c.77431G>A (p.Glu25811Lys)
c.77290G>A (p.Glu25764Lys)
c.103333G>A (p.Glu34445Lys)
c.98731G>A (p.Glu32911Lys)
c.98728G>A (p.Glu32910Lys)
c.95770G>A (p.Glu31924Lys)
c.77386G>A (p.Glu25796Lys)
c.98881G>A (p.Glu32961Lys)
c.98878G>A (p.Glu32960Lys)
c.98311G>A (p.Glu32771Lys)
c.95653G>A (p.Glu31885Lys)
c.95572G>A (p.Glu31858Lys)
c.77335G>A (p.Glu25779Lys)
c.67189G>A (p.Glu22397Lys)
 COSMIC
2g.178532176T>ACA430235908TTN,TTN-AS1c.96735A>T (p.Thr32245=)
c.77820A>T (p.Thr25940=)
c.77619A>T (p.Thr25873=)
c.77244A>T (p.Thr25748=)
c.104439A>T (p.Thr34813=)
c.99516A>T (p.Thr33172=)
n.446+8540T>A
n.220-3556T>A
c.103536A>T (p.Thr34512=)
c.77430A>T (p.Thr25810=)
c.77289A>T (p.Thr25763=)
c.103332A>T (p.Thr34444=)
c.98730A>T (p.Thr32910=)
c.98727A>T (p.Thr32909=)
c.95769A>T (p.Thr31923=)
c.77385A>T (p.Thr25795=)
c.98880A>T (p.Thr32960=)
c.98877A>T (p.Thr32959=)
c.98310A>T (p.Thr32770=)
c.95652A>T (p.Thr31884=)
c.95571A>T (p.Thr31857=)
c.77334A>T (p.Thr25778=)
c.67188A>T (p.Thr22396=)
2g.178532176T>CCA430235909TTN,TTN-AS1c.96735A>G (p.Thr32245=)
c.77820A>G (p.Thr25940=)
c.77619A>G (p.Thr25873=)
c.77244A>G (p.Thr25748=)
c.104439A>G (p.Thr34813=)
c.99516A>G (p.Thr33172=)
n.446+8540T>C
n.220-3556T>C
c.103536A>G (p.Thr34512=)
c.77430A>G (p.Thr25810=)
c.77289A>G (p.Thr25763=)
c.103332A>G (p.Thr34444=)
c.98730A>G (p.Thr32910=)
c.98727A>G (p.Thr32909=)
c.95769A>G (p.Thr31923=)
c.77385A>G (p.Thr25795=)
c.98880A>G (p.Thr32960=)
c.98877A>G (p.Thr32959=)
c.98310A>G (p.Thr32770=)
c.95652A>G (p.Thr31884=)
c.95571A>G (p.Thr31857=)
c.77334A>G (p.Thr25778=)
c.67188A>G (p.Thr22396=)
2g.178532176T>GCA430235910TTN,TTN-AS1c.96735A>C (p.Thr32245=)
c.77820A>C (p.Thr25940=)
c.77619A>C (p.Thr25873=)
c.77244A>C (p.Thr25748=)
c.104439A>C (p.Thr34813=)
c.99516A>C (p.Thr33172=)
n.446+8540T>G
n.220-3556T>G
c.103536A>C (p.Thr34512=)
c.77430A>C (p.Thr25810=)
c.77289A>C (p.Thr25763=)
c.103332A>C (p.Thr34444=)
c.98730A>C (p.Thr32910=)
c.98727A>C (p.Thr32909=)
c.95769A>C (p.Thr31923=)
c.77385A>C (p.Thr25795=)
c.98880A>C (p.Thr32960=)
c.98877A>C (p.Thr32959=)
c.98310A>C (p.Thr32770=)
c.95652A>C (p.Thr31884=)
c.95571A>C (p.Thr31857=)
c.77334A>C (p.Thr25778=)
c.67188A>C (p.Thr22396=)
2g.178532177_178532181delCA2577170193TTN,TTN-AS1c.96731_96735del (p.Ile32244ArgfsTer3)
c.77816_77820del (p.Ile25939ArgfsTer3)
c.77615_77619del (p.Ile25872ArgfsTer3)
c.77240_77244del (p.Ile25747ArgfsTer3)
c.104435_104439del (p.Ile34812ArgfsTer3)
c.99512_99516del (p.Ile33171ArgfsTer3)
n.446+8541_446+8545del
n.220-3555_220-3551del
c.103532_103536del (p.Ile34511ArgfsTer3)
c.77426_77430del (p.Ile25809ArgfsTer3)
c.77285_77289del (p.Ile25762ArgfsTer3)
c.103328_103332del (p.Ile34443ArgfsTer3)
c.98726_98730del (p.Ile32909ArgfsTer3)
c.98723_98727del (p.Ile32908ArgfsTer3)
c.95765_95769del (p.Ile31922ArgfsTer3)
c.77381_77385del (p.Ile25794ArgfsTer3)
c.98876_98880del (p.Ile32959ArgfsTer3)
c.98873_98877del (p.Ile32958ArgfsTer3)
c.98306_98310del (p.Ile32769ArgfsTer3)
c.95648_95652del (p.Ile31883ArgfsTer3)
c.95567_95571del (p.Ile31856ArgfsTer3)
c.77330_77334del (p.Ile25777ArgfsTer3)
c.67184_67188del (p.Ile22395ArgfsTer3)
2g.178532177G>ACA349411731TTN,TTN-AS1c.96734C>T (p.Thr32245Ile)
c.77819C>T (p.Thr25940Ile)
c.77618C>T (p.Thr25873Ile)
c.77243C>T (p.Thr25748Ile)
c.104438C>T (p.Thr34813Ile)
c.99515C>T (p.Thr33172Ile)
n.446+8541G>A
n.220-3555G>A
c.103535C>T (p.Thr34512Ile)
c.77429C>T (p.Thr25810Ile)
c.77288C>T (p.Thr25763Ile)
c.103331C>T (p.Thr34444Ile)
c.98729C>T (p.Thr32910Ile)
c.98726C>T (p.Thr32909Ile)
c.95768C>T (p.Thr31923Ile)
c.77384C>T (p.Thr25795Ile)
c.98879C>T (p.Thr32960Ile)
c.98876C>T (p.Thr32959Ile)
c.98309C>T (p.Thr32770Ile)
c.95651C>T (p.Thr31884Ile)
c.95570C>T (p.Thr31857Ile)
c.77333C>T (p.Thr25778Ile)
c.67187C>T (p.Thr22396Ile)
2g.178532177G>CCA349411732TTN,TTN-AS1c.96734C>G (p.Thr32245Arg)
c.77819C>G (p.Thr25940Arg)
c.77618C>G (p.Thr25873Arg)
c.77243C>G (p.Thr25748Arg)
c.104438C>G (p.Thr34813Arg)
c.99515C>G (p.Thr33172Arg)
n.446+8541G>C
n.220-3555G>C
c.103535C>G (p.Thr34512Arg)
c.77429C>G (p.Thr25810Arg)
c.77288C>G (p.Thr25763Arg)
c.103331C>G (p.Thr34444Arg)
c.98729C>G (p.Thr32910Arg)
c.98726C>G (p.Thr32909Arg)
c.95768C>G (p.Thr31923Arg)
c.77384C>G (p.Thr25795Arg)
c.98879C>G (p.Thr32960Arg)
c.98876C>G (p.Thr32959Arg)
c.98309C>G (p.Thr32770Arg)
c.95651C>G (p.Thr31884Arg)
c.95570C>G (p.Thr31857Arg)
c.77333C>G (p.Thr25778Arg)
c.67187C>G (p.Thr22396Arg)
2g.178532177G=CA1310518112TTN,TTN-AS1c.96734C= (p.Thr32245=)
c.77819C= (p.Thr25940=)
c.77618C= (p.Thr25873=)
c.77243C= (p.Thr25748=)
c.104438C= (p.Thr34813=)
c.99515C= (p.Thr33172=)
n.446+8541G=
n.220-3555G=
c.103535C= (p.Thr34512=)
c.77429C= (p.Thr25810=)
c.77288C= (p.Thr25763=)
c.103331C= (p.Thr34444=)
c.98729C= (p.Thr32910=)
c.98726C= (p.Thr32909=)
c.95768C= (p.Thr31923=)
c.77384C= (p.Thr25795=)
c.98879C= (p.Thr32960=)
c.98876C= (p.Thr32959=)
c.98309C= (p.Thr32770=)
c.95651C= (p.Thr31884=)
c.95570C= (p.Thr31857=)
c.77333C= (p.Thr25778=)
c.67187C= (p.Thr22396=)
2g.178532177G>TCA1985427TTN,TTN-AS1c.96734C>A (p.Thr32245Lys)
c.77819C>A (p.Thr25940Lys)
c.77618C>A (p.Thr25873Lys)
c.77243C>A (p.Thr25748Lys)
c.104438C>A (p.Thr34813Lys)
c.99515C>A (p.Thr33172Lys)
n.446+8541G>T
n.220-3555G>T
c.103535C>A (p.Thr34512Lys)
c.77429C>A (p.Thr25810Lys)
c.77288C>A (p.Thr25763Lys)
c.103331C>A (p.Thr34444Lys)
c.98729C>A (p.Thr32910Lys)
c.98726C>A (p.Thr32909Lys)
c.95768C>A (p.Thr31923Lys)
c.77384C>A (p.Thr25795Lys)
c.98879C>A (p.Thr32960Lys)
c.98876C>A (p.Thr32959Lys)
c.98309C>A (p.Thr32770Lys)
c.95651C>A (p.Thr31884Lys)
c.95570C>A (p.Thr31857Lys)
c.77333C>A (p.Thr25778Lys)
c.67187C>A (p.Thr22396Lys)
 ClinVar dbSNP ExAC gnomAD v2
2g.178532178T>ACA349411733TTN,TTN-AS1c.96733A>T (p.Thr32245Ser)
c.77818A>T (p.Thr25940Ser)
c.77617A>T (p.Thr25873Ser)
c.77242A>T (p.Thr25748Ser)
c.104437A>T (p.Thr34813Ser)
c.99514A>T (p.Thr33172Ser)
n.446+8542T>A
n.220-3554T>A
c.103534A>T (p.Thr34512Ser)
c.77428A>T (p.Thr25810Ser)
c.77287A>T (p.Thr25763Ser)
c.103330A>T (p.Thr34444Ser)
c.98728A>T (p.Thr32910Ser)
c.98725A>T (p.Thr32909Ser)
c.95767A>T (p.Thr31923Ser)
c.77383A>T (p.Thr25795Ser)
c.98878A>T (p.Thr32960Ser)
c.98875A>T (p.Thr32959Ser)
c.98308A>T (p.Thr32770Ser)
c.95650A>T (p.Thr31884Ser)
c.95569A>T (p.Thr31857Ser)
c.77332A>T (p.Thr25778Ser)
c.67186A>T (p.Thr22396Ser)
2g.178532178T>CCA349411734TTN,TTN-AS1c.96733A>G (p.Thr32245Ala)
c.77818A>G (p.Thr25940Ala)
c.77617A>G (p.Thr25873Ala)
c.77242A>G (p.Thr25748Ala)
c.104437A>G (p.Thr34813Ala)
c.99514A>G (p.Thr33172Ala)
n.446+8542T>C
n.220-3554T>C
c.103534A>G (p.Thr34512Ala)
c.77428A>G (p.Thr25810Ala)
c.77287A>G (p.Thr25763Ala)
c.103330A>G (p.Thr34444Ala)
c.98728A>G (p.Thr32910Ala)
c.98725A>G (p.Thr32909Ala)
c.95767A>G (p.Thr31923Ala)
c.77383A>G (p.Thr25795Ala)
c.98878A>G (p.Thr32960Ala)
c.98875A>G (p.Thr32959Ala)
c.98308A>G (p.Thr32770Ala)
c.95650A>G (p.Thr31884Ala)
c.95569A>G (p.Thr31857Ala)
c.77332A>G (p.Thr25778Ala)
c.67186A>G (p.Thr22396Ala)
2g.178532178T>GCA349411735TTN,TTN-AS1c.96733A>C (p.Thr32245Pro)
c.77818A>C (p.Thr25940Pro)
c.77617A>C (p.Thr25873Pro)
c.77242A>C (p.Thr25748Pro)
c.104437A>C (p.Thr34813Pro)
c.99514A>C (p.Thr33172Pro)
n.446+8542T>G
n.220-3554T>G
c.103534A>C (p.Thr34512Pro)
c.77428A>C (p.Thr25810Pro)
c.77287A>C (p.Thr25763Pro)
c.103330A>C (p.Thr34444Pro)
c.98728A>C (p.Thr32910Pro)
c.98725A>C (p.Thr32909Pro)
c.95767A>C (p.Thr31923Pro)
c.77383A>C (p.Thr25795Pro)
c.98878A>C (p.Thr32960Pro)
c.98875A>C (p.Thr32959Pro)
c.98308A>C (p.Thr32770Pro)
c.95650A>C (p.Thr31884Pro)
c.95569A>C (p.Thr31857Pro)
c.77332A>C (p.Thr25778Pro)
c.67186A>C (p.Thr22396Pro)
2g.178532179T>ACA430235911TTN,TTN-AS1c.96732A>T (p.Ile32244=)
c.77817A>T (p.Ile25939=)
c.77616A>T (p.Ile25872=)
c.77241A>T (p.Ile25747=)
c.104436A>T (p.Ile34812=)
c.99513A>T (p.Ile33171=)
n.446+8543T>A
n.220-3553T>A
c.103533A>T (p.Ile34511=)
c.77427A>T (p.Ile25809=)
c.77286A>T (p.Ile25762=)
c.103329A>T (p.Ile34443=)
c.98727A>T (p.Ile32909=)
c.98724A>T (p.Ile32908=)
c.95766A>T (p.Ile31922=)
c.77382A>T (p.Ile25794=)
c.98877A>T (p.Ile32959=)
c.98874A>T (p.Ile32958=)
c.98307A>T (p.Ile32769=)
c.95649A>T (p.Ile31883=)
c.95568A>T (p.Ile31856=)
c.77331A>T (p.Ile25777=)
c.67185A>T (p.Ile22395=)
2g.178532179T>CCA349411736TTN,TTN-AS1c.96732A>G (p.Ile32244Met)
c.77817A>G (p.Ile25939Met)
c.77616A>G (p.Ile25872Met)
c.77241A>G (p.Ile25747Met)
c.104436A>G (p.Ile34812Met)
c.99513A>G (p.Ile33171Met)
n.446+8543T>C
n.220-3553T>C
c.103533A>G (p.Ile34511Met)
c.77427A>G (p.Ile25809Met)
c.77286A>G (p.Ile25762Met)
c.103329A>G (p.Ile34443Met)
c.98727A>G (p.Ile32909Met)
c.98724A>G (p.Ile32908Met)
c.95766A>G (p.Ile31922Met)
c.77382A>G (p.Ile25794Met)
c.98877A>G (p.Ile32959Met)
c.98874A>G (p.Ile32958Met)
c.98307A>G (p.Ile32769Met)
c.95649A>G (p.Ile31883Met)
c.95568A>G (p.Ile31856Met)
c.77331A>G (p.Ile25777Met)
c.67185A>G (p.Ile22395Met)
2g.178532179T>GCA430235912TTN,TTN-AS1c.96732A>C (p.Ile32244=)
c.77817A>C (p.Ile25939=)
c.77616A>C (p.Ile25872=)
c.77241A>C (p.Ile25747=)
c.104436A>C (p.Ile34812=)
c.99513A>C (p.Ile33171=)
n.446+8543T>G
n.220-3553T>G
c.103533A>C (p.Ile34511=)
c.77427A>C (p.Ile25809=)
c.77286A>C (p.Ile25762=)
c.103329A>C (p.Ile34443=)
c.98727A>C (p.Ile32909=)
c.98724A>C (p.Ile32908=)
c.95766A>C (p.Ile31922=)
c.77382A>C (p.Ile25794=)
c.98877A>C (p.Ile32959=)
c.98874A>C (p.Ile32958=)
c.98307A>C (p.Ile32769=)
c.95649A>C (p.Ile31883=)
c.95568A>C (p.Ile31856=)
c.77331A>C (p.Ile25777=)
c.67185A>C (p.Ile22395=)
2g.178532180A=CA1310518113TTN,TTN-AS1c.96731T= (p.Ile32244=)
c.77816T= (p.Ile25939=)
c.77615T= (p.Ile25872=)
c.77240T= (p.Ile25747=)
c.104435T= (p.Ile34812=)
c.99512T= (p.Ile33171=)
n.446+8544A=
n.220-3552A=
c.103532T= (p.Ile34511=)
c.77426T= (p.Ile25809=)
c.77285T= (p.Ile25762=)
c.103328T= (p.Ile34443=)
c.98726T= (p.Ile32909=)
c.98723T= (p.Ile32908=)
c.95765T= (p.Ile31922=)
c.77381T= (p.Ile25794=)
c.98876T= (p.Ile32959=)
c.98873T= (p.Ile32958=)
c.98306T= (p.Ile32769=)
c.95648T= (p.Ile31883=)
c.95567T= (p.Ile31856=)
c.77330T= (p.Ile25777=)
c.67184T= (p.Ile22395=)
2g.178532180A>CCA349411739TTN,TTN-AS1c.96731T>G (p.Ile32244Arg)
c.77816T>G (p.Ile25939Arg)
c.77615T>G (p.Ile25872Arg)
c.77240T>G (p.Ile25747Arg)
c.104435T>G (p.Ile34812Arg)
c.99512T>G (p.Ile33171Arg)
n.446+8544A>C
n.220-3552A>C
c.103532T>G (p.Ile34511Arg)
c.77426T>G (p.Ile25809Arg)
c.77285T>G (p.Ile25762Arg)
c.103328T>G (p.Ile34443Arg)
c.98726T>G (p.Ile32909Arg)
c.98723T>G (p.Ile32908Arg)
c.95765T>G (p.Ile31922Arg)
c.77381T>G (p.Ile25794Arg)
c.98876T>G (p.Ile32959Arg)
c.98873T>G (p.Ile32958Arg)
c.98306T>G (p.Ile32769Arg)
c.95648T>G (p.Ile31883Arg)
c.95567T>G (p.Ile31856Arg)
c.77330T>G (p.Ile25777Arg)
c.67184T>G (p.Ile22395Arg)
2g.178532180A>GCA349411737TTN,TTN-AS1c.96731T>C (p.Ile32244Thr)
c.77816T>C (p.Ile25939Thr)
c.77615T>C (p.Ile25872Thr)
c.77240T>C (p.Ile25747Thr)
c.104435T>C (p.Ile34812Thr)
c.99512T>C (p.Ile33171Thr)
n.446+8544A>G
n.220-3552A>G
c.103532T>C (p.Ile34511Thr)
c.77426T>C (p.Ile25809Thr)
c.77285T>C (p.Ile25762Thr)
c.103328T>C (p.Ile34443Thr)
c.98726T>C (p.Ile32909Thr)
c.98723T>C (p.Ile32908Thr)
c.95765T>C (p.Ile31922Thr)
c.77381T>C (p.Ile25794Thr)
c.98876T>C (p.Ile32959Thr)
c.98873T>C (p.Ile32958Thr)
c.98306T>C (p.Ile32769Thr)
c.95648T>C (p.Ile31883Thr)
c.95567T>C (p.Ile31856Thr)
c.77330T>C (p.Ile25777Thr)
c.67184T>C (p.Ile22395Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178532180A>TCA349411738TTN,TTN-AS1c.96731T>A (p.Ile32244Lys)
c.77816T>A (p.Ile25939Lys)
c.77615T>A (p.Ile25872Lys)
c.77240T>A (p.Ile25747Lys)
c.104435T>A (p.Ile34812Lys)
c.99512T>A (p.Ile33171Lys)
n.446+8544A>T
n.220-3552A>T
c.103532T>A (p.Ile34511Lys)
c.77426T>A (p.Ile25809Lys)
c.77285T>A (p.Ile25762Lys)
c.103328T>A (p.Ile34443Lys)
c.98726T>A (p.Ile32909Lys)
c.98723T>A (p.Ile32908Lys)
c.95765T>A (p.Ile31922Lys)
c.77381T>A (p.Ile25794Lys)
c.98876T>A (p.Ile32959Lys)
c.98873T>A (p.Ile32958Lys)
c.98306T>A (p.Ile32769Lys)
c.95648T>A (p.Ile31883Lys)
c.95567T>A (p.Ile31856Lys)
c.77330T>A (p.Ile25777Lys)
c.67184T>A (p.Ile22395Lys)
2g.178532181T>ACA349411740TTN,TTN-AS1c.96730A>T (p.Ile32244Leu)
c.77815A>T (p.Ile25939Leu)
c.77614A>T (p.Ile25872Leu)
c.77239A>T (p.Ile25747Leu)
c.104434A>T (p.Ile34812Leu)
c.99511A>T (p.Ile33171Leu)
n.446+8545T>A
n.220-3551T>A
c.103531A>T (p.Ile34511Leu)
c.77425A>T (p.Ile25809Leu)
c.77284A>T (p.Ile25762Leu)
c.103327A>T (p.Ile34443Leu)
c.98725A>T (p.Ile32909Leu)
c.98722A>T (p.Ile32908Leu)
c.95764A>T (p.Ile31922Leu)
c.77380A>T (p.Ile25794Leu)
c.98875A>T (p.Ile32959Leu)
c.98872A>T (p.Ile32958Leu)
c.98305A>T (p.Ile32769Leu)
c.95647A>T (p.Ile31883Leu)
c.95566A>T (p.Ile31856Leu)
c.77329A>T (p.Ile25777Leu)
c.67183A>T (p.Ile22395Leu)
2g.178532181T>CCA349411741TTN,TTN-AS1c.96730A>G (p.Ile32244Val)
c.77815A>G (p.Ile25939Val)
c.77614A>G (p.Ile25872Val)
c.77239A>G (p.Ile25747Val)
c.104434A>G (p.Ile34812Val)
c.99511A>G (p.Ile33171Val)
n.446+8545T>C
n.220-3551T>C
c.103531A>G (p.Ile34511Val)
c.77425A>G (p.Ile25809Val)
c.77284A>G (p.Ile25762Val)
c.103327A>G (p.Ile34443Val)
c.98725A>G (p.Ile32909Val)
c.98722A>G (p.Ile32908Val)
c.95764A>G (p.Ile31922Val)
c.77380A>G (p.Ile25794Val)
c.98875A>G (p.Ile32959Val)
c.98872A>G (p.Ile32958Val)
c.98305A>G (p.Ile32769Val)
c.95647A>G (p.Ile31883Val)
c.95566A>G (p.Ile31856Val)
c.77329A>G (p.Ile25777Val)
c.67183A>G (p.Ile22395Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178532181T>GCA349411742TTN,TTN-AS1c.96730A>C (p.Ile32244Leu)
c.77815A>C (p.Ile25939Leu)
c.77614A>C (p.Ile25872Leu)
c.77239A>C (p.Ile25747Leu)
c.104434A>C (p.Ile34812Leu)
c.99511A>C (p.Ile33171Leu)
n.446+8545T>G
n.220-3551T>G
c.103531A>C (p.Ile34511Leu)
c.77425A>C (p.Ile25809Leu)
c.77284A>C (p.Ile25762Leu)
c.103327A>C (p.Ile34443Leu)
c.98725A>C (p.Ile32909Leu)
c.98722A>C (p.Ile32908Leu)
c.95764A>C (p.Ile31922Leu)
c.77380A>C (p.Ile25794Leu)
c.98875A>C (p.Ile32959Leu)
c.98872A>C (p.Ile32958Leu)
c.98305A>C (p.Ile32769Leu)
c.95647A>C (p.Ile31883Leu)
c.95566A>C (p.Ile31856Leu)
c.77329A>C (p.Ile25777Leu)
c.67183A>C (p.Ile22395Leu)
2g.178532181T=CA1310518114TTN,TTN-AS1c.96730A= (p.Ile32244=)
c.77815A= (p.Ile25939=)
c.77614A= (p.Ile25872=)
c.77239A= (p.Ile25747=)
c.104434A= (p.Ile34812=)
c.99511A= (p.Ile33171=)
n.446+8545T=
n.220-3551T=
c.103531A= (p.Ile34511=)
c.77425A= (p.Ile25809=)
c.77284A= (p.Ile25762=)
c.103327A= (p.Ile34443=)
c.98725A= (p.Ile32909=)
c.98722A= (p.Ile32908=)
c.95764A= (p.Ile31922=)
c.77380A= (p.Ile25794=)
c.98875A= (p.Ile32959=)
c.98872A= (p.Ile32958=)
c.98305A= (p.Ile32769=)
c.95647A= (p.Ile31883=)
c.95566A= (p.Ile31856=)
c.77329A= (p.Ile25777=)
c.67183A= (p.Ile22395=)

Number of alleles fetched