Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178544311G>ACA1986854TTN,TTN-AS1c.88214C>T (p.Pro29405Leu)
c.69299C>T (p.Pro23100Leu)
c.69098C>T (p.Pro23033Leu)
c.68723C>T (p.Pro22908Leu)
c.95918C>T (p.Pro31973Leu)
c.90995C>T (p.Pro30332Leu)
n.446+20675G>A
n.2043+1950G>A
c.95015C>T (p.Pro31672Leu)
c.68909C>T (p.Pro22970Leu)
c.68768C>T (p.Pro22923Leu)
c.94811C>T (p.Pro31604Leu)
c.90209C>T (p.Pro30070Leu)
c.90206C>T (p.Pro30069Leu)
c.87248C>T (p.Pro29083Leu)
c.68864C>T (p.Pro22955Leu)
c.90359C>T (p.Pro30120Leu)
c.90356C>T (p.Pro30119Leu)
c.89789C>T (p.Pro29930Leu)
c.87131C>T (p.Pro29044Leu)
c.87050C>T (p.Pro29017Leu)
c.68813C>T (p.Pro22938Leu)
c.58667C>T (p.Pro19556Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544311G>CCA349456029TTN,TTN-AS1c.88214C>G (p.Pro29405Arg)
c.69299C>G (p.Pro23100Arg)
c.69098C>G (p.Pro23033Arg)
c.68723C>G (p.Pro22908Arg)
c.95918C>G (p.Pro31973Arg)
c.90995C>G (p.Pro30332Arg)
n.446+20675G>C
n.2043+1950G>C
c.95015C>G (p.Pro31672Arg)
c.68909C>G (p.Pro22970Arg)
c.68768C>G (p.Pro22923Arg)
c.94811C>G (p.Pro31604Arg)
c.90209C>G (p.Pro30070Arg)
c.90206C>G (p.Pro30069Arg)
c.87248C>G (p.Pro29083Arg)
c.68864C>G (p.Pro22955Arg)
c.90359C>G (p.Pro30120Arg)
c.90356C>G (p.Pro30119Arg)
c.89789C>G (p.Pro29930Arg)
c.87131C>G (p.Pro29044Arg)
c.87050C>G (p.Pro29017Arg)
c.68813C>G (p.Pro22938Arg)
c.58667C>G (p.Pro19556Arg)
2g.178544311G=CA1310521504TTN,TTN-AS1c.88214C= (p.Pro29405=)
c.69299C= (p.Pro23100=)
c.69098C= (p.Pro23033=)
c.68723C= (p.Pro22908=)
c.95918C= (p.Pro31973=)
c.90995C= (p.Pro30332=)
n.446+20675G=
n.2043+1950G=
c.95015C= (p.Pro31672=)
c.68909C= (p.Pro22970=)
c.68768C= (p.Pro22923=)
c.94811C= (p.Pro31604=)
c.90209C= (p.Pro30070=)
c.90206C= (p.Pro30069=)
c.87248C= (p.Pro29083=)
c.68864C= (p.Pro22955=)
c.90359C= (p.Pro30120=)
c.90356C= (p.Pro30119=)
c.89789C= (p.Pro29930=)
c.87131C= (p.Pro29044=)
c.87050C= (p.Pro29017=)
c.68813C= (p.Pro22938=)
c.58667C= (p.Pro19556=)
2g.178544311G>TCA349456037TTN,TTN-AS1c.88214C>A (p.Pro29405Gln)
c.69299C>A (p.Pro23100Gln)
c.69098C>A (p.Pro23033Gln)
c.68723C>A (p.Pro22908Gln)
c.95918C>A (p.Pro31973Gln)
c.90995C>A (p.Pro30332Gln)
n.446+20675G>T
n.2043+1950G>T
c.95015C>A (p.Pro31672Gln)
c.68909C>A (p.Pro22970Gln)
c.68768C>A (p.Pro22923Gln)
c.94811C>A (p.Pro31604Gln)
c.90209C>A (p.Pro30070Gln)
c.90206C>A (p.Pro30069Gln)
c.87248C>A (p.Pro29083Gln)
c.68864C>A (p.Pro22955Gln)
c.90359C>A (p.Pro30120Gln)
c.90356C>A (p.Pro30119Gln)
c.89789C>A (p.Pro29930Gln)
c.87131C>A (p.Pro29044Gln)
c.87050C>A (p.Pro29017Gln)
c.68813C>A (p.Pro22938Gln)
c.58667C>A (p.Pro19556Gln)
2g.178544312G>ACA349456042TTN,TTN-AS1c.88213C>T (p.Pro29405Ser)
c.69298C>T (p.Pro23100Ser)
c.69097C>T (p.Pro23033Ser)
c.68722C>T (p.Pro22908Ser)
c.95917C>T (p.Pro31973Ser)
c.90994C>T (p.Pro30332Ser)
n.446+20676G>A
n.2043+1951G>A
c.95014C>T (p.Pro31672Ser)
c.68908C>T (p.Pro22970Ser)
c.68767C>T (p.Pro22923Ser)
c.94810C>T (p.Pro31604Ser)
c.90208C>T (p.Pro30070Ser)
c.90205C>T (p.Pro30069Ser)
c.87247C>T (p.Pro29083Ser)
c.68863C>T (p.Pro22955Ser)
c.90358C>T (p.Pro30120Ser)
c.90355C>T (p.Pro30119Ser)
c.89788C>T (p.Pro29930Ser)
c.87130C>T (p.Pro29044Ser)
c.87049C>T (p.Pro29017Ser)
c.68812C>T (p.Pro22938Ser)
c.58666C>T (p.Pro19556Ser)
2g.178544312G>CCA349456046TTN,TTN-AS1c.88213C>G (p.Pro29405Ala)
c.69298C>G (p.Pro23100Ala)
c.69097C>G (p.Pro23033Ala)
c.68722C>G (p.Pro22908Ala)
c.95917C>G (p.Pro31973Ala)
c.90994C>G (p.Pro30332Ala)
n.446+20676G>C
n.2043+1951G>C
c.95014C>G (p.Pro31672Ala)
c.68908C>G (p.Pro22970Ala)
c.68767C>G (p.Pro22923Ala)
c.94810C>G (p.Pro31604Ala)
c.90208C>G (p.Pro30070Ala)
c.90205C>G (p.Pro30069Ala)
c.87247C>G (p.Pro29083Ala)
c.68863C>G (p.Pro22955Ala)
c.90358C>G (p.Pro30120Ala)
c.90355C>G (p.Pro30119Ala)
c.89788C>G (p.Pro29930Ala)
c.87130C>G (p.Pro29044Ala)
c.87049C>G (p.Pro29017Ala)
c.68812C>G (p.Pro22938Ala)
c.58666C>G (p.Pro19556Ala)
2g.178544312G>TCA349456049TTN,TTN-AS1c.88213C>A (p.Pro29405Thr)
c.69298C>A (p.Pro23100Thr)
c.69097C>A (p.Pro23033Thr)
c.68722C>A (p.Pro22908Thr)
c.95917C>A (p.Pro31973Thr)
c.90994C>A (p.Pro30332Thr)
n.446+20676G>T
n.2043+1951G>T
c.95014C>A (p.Pro31672Thr)
c.68908C>A (p.Pro22970Thr)
c.68767C>A (p.Pro22923Thr)
c.94810C>A (p.Pro31604Thr)
c.90208C>A (p.Pro30070Thr)
c.90205C>A (p.Pro30069Thr)
c.87247C>A (p.Pro29083Thr)
c.68863C>A (p.Pro22955Thr)
c.90358C>A (p.Pro30120Thr)
c.90355C>A (p.Pro30119Thr)
c.89788C>A (p.Pro29930Thr)
c.87130C>A (p.Pro29044Thr)
c.87049C>A (p.Pro29017Thr)
c.68812C>A (p.Pro22938Thr)
c.58666C>A (p.Pro19556Thr)
2g.178544313C>ACA430241690TTN,TTN-AS1c.88212G>T (p.Val29404=)
c.69297G>T (p.Val23099=)
c.69096G>T (p.Val23032=)
c.68721G>T (p.Val22907=)
c.95916G>T (p.Val31972=)
c.90993G>T (p.Val30331=)
n.446+20677C>A
n.2043+1952C>A
c.95013G>T (p.Val31671=)
c.68907G>T (p.Val22969=)
c.68766G>T (p.Val22922=)
c.94809G>T (p.Val31603=)
c.90207G>T (p.Val30069=)
c.90204G>T (p.Val30068=)
c.87246G>T (p.Val29082=)
c.68862G>T (p.Val22954=)
c.90357G>T (p.Val30119=)
c.90354G>T (p.Val30118=)
c.89787G>T (p.Val29929=)
c.87129G>T (p.Val29043=)
c.87048G>T (p.Val29016=)
c.68811G>T (p.Val22937=)
c.58665G>T (p.Val19555=)
2g.178544313C=CA1310521505TTN,TTN-AS1c.88212G= (p.Val29404=)
c.69297G= (p.Val23099=)
c.69096G= (p.Val23032=)
c.68721G= (p.Val22907=)
c.95916G= (p.Val31972=)
c.90993G= (p.Val30331=)
n.446+20677C=
n.2043+1952C=
c.95013G= (p.Val31671=)
c.68907G= (p.Val22969=)
c.68766G= (p.Val22922=)
c.94809G= (p.Val31603=)
c.90207G= (p.Val30069=)
c.90204G= (p.Val30068=)
c.87246G= (p.Val29082=)
c.68862G= (p.Val22954=)
c.90357G= (p.Val30119=)
c.90354G= (p.Val30118=)
c.89787G= (p.Val29929=)
c.87129G= (p.Val29043=)
c.87048G= (p.Val29016=)
c.68811G= (p.Val22937=)
c.58665G= (p.Val19555=)
2g.178544313C>GCA430241692TTN,TTN-AS1c.88212G>C (p.Val29404=)
c.69297G>C (p.Val23099=)
c.69096G>C (p.Val23032=)
c.68721G>C (p.Val22907=)
c.95916G>C (p.Val31972=)
c.90993G>C (p.Val30331=)
n.446+20677C>G
n.2043+1952C>G
c.95013G>C (p.Val31671=)
c.68907G>C (p.Val22969=)
c.68766G>C (p.Val22922=)
c.94809G>C (p.Val31603=)
c.90207G>C (p.Val30069=)
c.90204G>C (p.Val30068=)
c.87246G>C (p.Val29082=)
c.68862G>C (p.Val22954=)
c.90357G>C (p.Val30119=)
c.90354G>C (p.Val30118=)
c.89787G>C (p.Val29929=)
c.87129G>C (p.Val29043=)
c.87048G>C (p.Val29016=)
c.68811G>C (p.Val22937=)
c.58665G>C (p.Val19555=)
2g.178544313C>TCA60970576TTN,TTN-AS1c.88212G>A (p.Val29404=)
c.69297G>A (p.Val23099=)
c.69096G>A (p.Val23032=)
c.68721G>A (p.Val22907=)
c.95916G>A (p.Val31972=)
c.90993G>A (p.Val30331=)
n.446+20677C>T
n.2043+1952C>T
c.95013G>A (p.Val31671=)
c.68907G>A (p.Val22969=)
c.68766G>A (p.Val22922=)
c.94809G>A (p.Val31603=)
c.90207G>A (p.Val30069=)
c.90204G>A (p.Val30068=)
c.87246G>A (p.Val29082=)
c.68862G>A (p.Val22954=)
c.90357G>A (p.Val30119=)
c.90354G>A (p.Val30118=)
c.89787G>A (p.Val29929=)
c.87129G>A (p.Val29043=)
c.87048G>A (p.Val29016=)
c.68811G>A (p.Val22937=)
c.58665G>A (p.Val19555=)
dbSNP gnomAD v4
2g.178544314A=CA1310521506TTN,TTN-AS1c.88211T= (p.Val29404=)
c.69296T= (p.Val23099=)
c.69095T= (p.Val23032=)
c.68720T= (p.Val22907=)
c.95915T= (p.Val31972=)
c.90992T= (p.Val30331=)
n.446+20678A=
n.2043+1953A=
c.95012T= (p.Val31671=)
c.68906T= (p.Val22969=)
c.68765T= (p.Val22922=)
c.94808T= (p.Val31603=)
c.90206T= (p.Val30069=)
c.90203T= (p.Val30068=)
c.87245T= (p.Val29082=)
c.68861T= (p.Val22954=)
c.90356T= (p.Val30119=)
c.90353T= (p.Val30118=)
c.89786T= (p.Val29929=)
c.87128T= (p.Val29043=)
c.87047T= (p.Val29016=)
c.68810T= (p.Val22937=)
c.58664T= (p.Val19555=)
2g.178544314A>CCA349456067TTN,TTN-AS1c.88211T>G (p.Val29404Gly)
c.69296T>G (p.Val23099Gly)
c.69095T>G (p.Val23032Gly)
c.68720T>G (p.Val22907Gly)
c.95915T>G (p.Val31972Gly)
c.90992T>G (p.Val30331Gly)
n.446+20678A>C
n.2043+1953A>C
c.95012T>G (p.Val31671Gly)
c.68906T>G (p.Val22969Gly)
c.68765T>G (p.Val22922Gly)
c.94808T>G (p.Val31603Gly)
c.90206T>G (p.Val30069Gly)
c.90203T>G (p.Val30068Gly)
c.87245T>G (p.Val29082Gly)
c.68861T>G (p.Val22954Gly)
c.90356T>G (p.Val30119Gly)
c.90353T>G (p.Val30118Gly)
c.89786T>G (p.Val29929Gly)
c.87128T>G (p.Val29043Gly)
c.87047T>G (p.Val29016Gly)
c.68810T>G (p.Val22937Gly)
c.58664T>G (p.Val19555Gly)
2g.178544314A>GCA349456063TTN,TTN-AS1c.88211T>C (p.Val29404Ala)
c.69296T>C (p.Val23099Ala)
c.69095T>C (p.Val23032Ala)
c.68720T>C (p.Val22907Ala)
c.95915T>C (p.Val31972Ala)
c.90992T>C (p.Val30331Ala)
n.446+20678A>G
n.2043+1953A>G
c.95012T>C (p.Val31671Ala)
c.68906T>C (p.Val22969Ala)
c.68765T>C (p.Val22922Ala)
c.94808T>C (p.Val31603Ala)
c.90206T>C (p.Val30069Ala)
c.90203T>C (p.Val30068Ala)
c.87245T>C (p.Val29082Ala)
c.68861T>C (p.Val22954Ala)
c.90356T>C (p.Val30119Ala)
c.90353T>C (p.Val30118Ala)
c.89786T>C (p.Val29929Ala)
c.87128T>C (p.Val29043Ala)
c.87047T>C (p.Val29016Ala)
c.68810T>C (p.Val22937Ala)
c.58664T>C (p.Val19555Ala)
dbSNP
2g.178544314A>TCA349456072TTN,TTN-AS1c.88211T>A (p.Val29404Glu)
c.69296T>A (p.Val23099Glu)
c.69095T>A (p.Val23032Glu)
c.68720T>A (p.Val22907Glu)
c.95915T>A (p.Val31972Glu)
c.90992T>A (p.Val30331Glu)
n.446+20678A>T
n.2043+1953A>T
c.95012T>A (p.Val31671Glu)
c.68906T>A (p.Val22969Glu)
c.68765T>A (p.Val22922Glu)
c.94808T>A (p.Val31603Glu)
c.90206T>A (p.Val30069Glu)
c.90203T>A (p.Val30068Glu)
c.87245T>A (p.Val29082Glu)
c.68861T>A (p.Val22954Glu)
c.90356T>A (p.Val30119Glu)
c.90353T>A (p.Val30118Glu)
c.89786T>A (p.Val29929Glu)
c.87128T>A (p.Val29043Glu)
c.87047T>A (p.Val29016Glu)
c.68810T>A (p.Val22937Glu)
c.58664T>A (p.Val19555Glu)
2g.178544315C>ACA349456074TTN,TTN-AS1c.88210G>T (p.Val29404Leu)
c.69295G>T (p.Val23099Leu)
c.69094G>T (p.Val23032Leu)
c.68719G>T (p.Val22907Leu)
c.95914G>T (p.Val31972Leu)
c.90991G>T (p.Val30331Leu)
n.446+20679C>A
n.2043+1954C>A
c.95011G>T (p.Val31671Leu)
c.68905G>T (p.Val22969Leu)
c.68764G>T (p.Val22922Leu)
c.94807G>T (p.Val31603Leu)
c.90205G>T (p.Val30069Leu)
c.90202G>T (p.Val30068Leu)
c.87244G>T (p.Val29082Leu)
c.68860G>T (p.Val22954Leu)
c.90355G>T (p.Val30119Leu)
c.90352G>T (p.Val30118Leu)
c.89785G>T (p.Val29929Leu)
c.87127G>T (p.Val29043Leu)
c.87046G>T (p.Val29016Leu)
c.68809G>T (p.Val22937Leu)
c.58663G>T (p.Val19555Leu)
2g.178544315C=CA1310521508TTN,TTN-AS1c.88210G= (p.Val29404=)
c.69295G= (p.Val23099=)
c.69094G= (p.Val23032=)
c.68719G= (p.Val22907=)
c.95914G= (p.Val31972=)
c.90991G= (p.Val30331=)
n.446+20679C=
n.2043+1954C=
c.95011G= (p.Val31671=)
c.68905G= (p.Val22969=)
c.68764G= (p.Val22922=)
c.94807G= (p.Val31603=)
c.90205G= (p.Val30069=)
c.90202G= (p.Val30068=)
c.87244G= (p.Val29082=)
c.68860G= (p.Val22954=)
c.90355G= (p.Val30119=)
c.90352G= (p.Val30118=)
c.89785G= (p.Val29929=)
c.87127G= (p.Val29043=)
c.87046G= (p.Val29016=)
c.68809G= (p.Val22937=)
c.58663G= (p.Val19555=)
2g.178544315C>GCA349456079TTN,TTN-AS1c.88210G>C (p.Val29404Leu)
c.69295G>C (p.Val23099Leu)
c.69094G>C (p.Val23032Leu)
c.68719G>C (p.Val22907Leu)
c.95914G>C (p.Val31972Leu)
c.90991G>C (p.Val30331Leu)
n.446+20679C>G
n.2043+1954C>G
c.95011G>C (p.Val31671Leu)
c.68905G>C (p.Val22969Leu)
c.68764G>C (p.Val22922Leu)
c.94807G>C (p.Val31603Leu)
c.90205G>C (p.Val30069Leu)
c.90202G>C (p.Val30068Leu)
c.87244G>C (p.Val29082Leu)
c.68860G>C (p.Val22954Leu)
c.90355G>C (p.Val30119Leu)
c.90352G>C (p.Val30118Leu)
c.89785G>C (p.Val29929Leu)
c.87127G>C (p.Val29043Leu)
c.87046G>C (p.Val29016Leu)
c.68809G>C (p.Val22937Leu)
c.58663G>C (p.Val19555Leu)
2g.178544315C>TCA1986855TTN,TTN-AS1c.88210G>A (p.Val29404Met)
c.69295G>A (p.Val23099Met)
c.69094G>A (p.Val23032Met)
c.68719G>A (p.Val22907Met)
c.95914G>A (p.Val31972Met)
c.90991G>A (p.Val30331Met)
n.446+20679C>T
n.2043+1954C>T
c.95011G>A (p.Val31671Met)
c.68905G>A (p.Val22969Met)
c.68764G>A (p.Val22922Met)
c.94807G>A (p.Val31603Met)
c.90205G>A (p.Val30069Met)
c.90202G>A (p.Val30068Met)
c.87244G>A (p.Val29082Met)
c.68860G>A (p.Val22954Met)
c.90355G>A (p.Val30119Met)
c.90352G>A (p.Val30118Met)
c.89785G>A (p.Val29929Met)
c.87127G>A (p.Val29043Met)
c.87046G>A (p.Val29016Met)
c.68809G>A (p.Val22937Met)
c.58663G>A (p.Val19555Met)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544316A=CA1310521510TTN,TTN-AS1c.88209T= (p.Thr29403=)
c.69294T= (p.Thr23098=)
c.69093T= (p.Thr23031=)
c.68718T= (p.Thr22906=)
c.95913T= (p.Thr31971=)
c.90990T= (p.Thr30330=)
n.446+20680A=
n.2043+1955A=
c.95010T= (p.Thr31670=)
c.68904T= (p.Thr22968=)
c.68763T= (p.Thr22921=)
c.94806T= (p.Thr31602=)
c.90204T= (p.Thr30068=)
c.90201T= (p.Thr30067=)
c.87243T= (p.Thr29081=)
c.68859T= (p.Thr22953=)
c.90354T= (p.Thr30118=)
c.90351T= (p.Thr30117=)
c.89784T= (p.Thr29928=)
c.87126T= (p.Thr29042=)
c.87045T= (p.Thr29015=)
c.68808T= (p.Thr22936=)
c.58662T= (p.Thr19554=)
2g.178544316A>CCA430241698TTN,TTN-AS1c.88209T>G (p.Thr29403=)
c.69294T>G (p.Thr23098=)
c.69093T>G (p.Thr23031=)
c.68718T>G (p.Thr22906=)
c.95913T>G (p.Thr31971=)
c.90990T>G (p.Thr30330=)
n.446+20680A>C
n.2043+1955A>C
c.95010T>G (p.Thr31670=)
c.68904T>G (p.Thr22968=)
c.68763T>G (p.Thr22921=)
c.94806T>G (p.Thr31602=)
c.90204T>G (p.Thr30068=)
c.90201T>G (p.Thr30067=)
c.87243T>G (p.Thr29081=)
c.68859T>G (p.Thr22953=)
c.90354T>G (p.Thr30118=)
c.90351T>G (p.Thr30117=)
c.89784T>G (p.Thr29928=)
c.87126T>G (p.Thr29042=)
c.87045T>G (p.Thr29015=)
c.68808T>G (p.Thr22936=)
c.58662T>G (p.Thr19554=)
ClinVar gnomAD v4
2g.178544316A>GCA430241699TTN,TTN-AS1c.88209T>C (p.Thr29403=)
c.69294T>C (p.Thr23098=)
c.69093T>C (p.Thr23031=)
c.68718T>C (p.Thr22906=)
c.95913T>C (p.Thr31971=)
c.90990T>C (p.Thr30330=)
n.446+20680A>G
n.2043+1955A>G
c.95010T>C (p.Thr31670=)
c.68904T>C (p.Thr22968=)
c.68763T>C (p.Thr22921=)
c.94806T>C (p.Thr31602=)
c.90204T>C (p.Thr30068=)
c.90201T>C (p.Thr30067=)
c.87243T>C (p.Thr29081=)
c.68859T>C (p.Thr22953=)
c.90354T>C (p.Thr30118=)
c.90351T>C (p.Thr30117=)
c.89784T>C (p.Thr29928=)
c.87126T>C (p.Thr29042=)
c.87045T>C (p.Thr29015=)
c.68808T>C (p.Thr22936=)
c.58662T>C (p.Thr19554=)
dbSNP gnomAD v4
2g.178544316A>TCA430241700TTN,TTN-AS1c.88209T>A (p.Thr29403=)
c.69294T>A (p.Thr23098=)
c.69093T>A (p.Thr23031=)
c.68718T>A (p.Thr22906=)
c.95913T>A (p.Thr31971=)
c.90990T>A (p.Thr30330=)
n.446+20680A>T
n.2043+1955A>T
c.95010T>A (p.Thr31670=)
c.68904T>A (p.Thr22968=)
c.68763T>A (p.Thr22921=)
c.94806T>A (p.Thr31602=)
c.90204T>A (p.Thr30068=)
c.90201T>A (p.Thr30067=)
c.87243T>A (p.Thr29081=)
c.68859T>A (p.Thr22953=)
c.90354T>A (p.Thr30118=)
c.90351T>A (p.Thr30117=)
c.89784T>A (p.Thr29928=)
c.87126T>A (p.Thr29042=)
c.87045T>A (p.Thr29015=)
c.68808T>A (p.Thr22936=)
c.58662T>A (p.Thr19554=)
2g.178544317G>ACA349456081TTN,TTN-AS1c.88208C>T (p.Thr29403Ile)
c.69293C>T (p.Thr23098Ile)
c.69092C>T (p.Thr23031Ile)
c.68717C>T (p.Thr22906Ile)
c.95912C>T (p.Thr31971Ile)
c.90989C>T (p.Thr30330Ile)
n.446+20681G>A
n.2043+1956G>A
c.95009C>T (p.Thr31670Ile)
c.68903C>T (p.Thr22968Ile)
c.68762C>T (p.Thr22921Ile)
c.94805C>T (p.Thr31602Ile)
c.90203C>T (p.Thr30068Ile)
c.90200C>T (p.Thr30067Ile)
c.87242C>T (p.Thr29081Ile)
c.68858C>T (p.Thr22953Ile)
c.90353C>T (p.Thr30118Ile)
c.90350C>T (p.Thr30117Ile)
c.89783C>T (p.Thr29928Ile)
c.87125C>T (p.Thr29042Ile)
c.87044C>T (p.Thr29015Ile)
c.68807C>T (p.Thr22936Ile)
c.58661C>T (p.Thr19554Ile)
2g.178544317G>CCA349456083TTN,TTN-AS1c.88208C>G (p.Thr29403Ser)
c.69293C>G (p.Thr23098Ser)
c.69092C>G (p.Thr23031Ser)
c.68717C>G (p.Thr22906Ser)
c.95912C>G (p.Thr31971Ser)
c.90989C>G (p.Thr30330Ser)
n.446+20681G>C
n.2043+1956G>C
c.95009C>G (p.Thr31670Ser)
c.68903C>G (p.Thr22968Ser)
c.68762C>G (p.Thr22921Ser)
c.94805C>G (p.Thr31602Ser)
c.90203C>G (p.Thr30068Ser)
c.90200C>G (p.Thr30067Ser)
c.87242C>G (p.Thr29081Ser)
c.68858C>G (p.Thr22953Ser)
c.90353C>G (p.Thr30118Ser)
c.90350C>G (p.Thr30117Ser)
c.89783C>G (p.Thr29928Ser)
c.87125C>G (p.Thr29042Ser)
c.87044C>G (p.Thr29015Ser)
c.68807C>G (p.Thr22936Ser)
c.58661C>G (p.Thr19554Ser)
2g.178544317G>TCA349456084TTN,TTN-AS1c.88208C>A (p.Thr29403Asn)
c.69293C>A (p.Thr23098Asn)
c.69092C>A (p.Thr23031Asn)
c.68717C>A (p.Thr22906Asn)
c.95912C>A (p.Thr31971Asn)
c.90989C>A (p.Thr30330Asn)
n.446+20681G>T
n.2043+1956G>T
c.95009C>A (p.Thr31670Asn)
c.68903C>A (p.Thr22968Asn)
c.68762C>A (p.Thr22921Asn)
c.94805C>A (p.Thr31602Asn)
c.90203C>A (p.Thr30068Asn)
c.90200C>A (p.Thr30067Asn)
c.87242C>A (p.Thr29081Asn)
c.68858C>A (p.Thr22953Asn)
c.90353C>A (p.Thr30118Asn)
c.90350C>A (p.Thr30117Asn)
c.89783C>A (p.Thr29928Asn)
c.87125C>A (p.Thr29042Asn)
c.87044C>A (p.Thr29015Asn)
c.68807C>A (p.Thr22936Asn)
c.58661C>A (p.Thr19554Asn)
2g.178544318T>ACA349456088TTN,TTN-AS1c.88207A>T (p.Thr29403Ser)
c.69292A>T (p.Thr23098Ser)
c.69091A>T (p.Thr23031Ser)
c.68716A>T (p.Thr22906Ser)
c.95911A>T (p.Thr31971Ser)
c.90988A>T (p.Thr30330Ser)
n.446+20682T>A
n.2043+1957T>A
c.95008A>T (p.Thr31670Ser)
c.68902A>T (p.Thr22968Ser)
c.68761A>T (p.Thr22921Ser)
c.94804A>T (p.Thr31602Ser)
c.90202A>T (p.Thr30068Ser)
c.90199A>T (p.Thr30067Ser)
c.87241A>T (p.Thr29081Ser)
c.68857A>T (p.Thr22953Ser)
c.90352A>T (p.Thr30118Ser)
c.90349A>T (p.Thr30117Ser)
c.89782A>T (p.Thr29928Ser)
c.87124A>T (p.Thr29042Ser)
c.87043A>T (p.Thr29015Ser)
c.68806A>T (p.Thr22936Ser)
c.58660A>T (p.Thr19554Ser)
2g.178544318T>CCA349456090TTN,TTN-AS1c.88207A>G (p.Thr29403Ala)
c.69292A>G (p.Thr23098Ala)
c.69091A>G (p.Thr23031Ala)
c.68716A>G (p.Thr22906Ala)
c.95911A>G (p.Thr31971Ala)
c.90988A>G (p.Thr30330Ala)
n.446+20682T>C
n.2043+1957T>C
c.95008A>G (p.Thr31670Ala)
c.68902A>G (p.Thr22968Ala)
c.68761A>G (p.Thr22921Ala)
c.94804A>G (p.Thr31602Ala)
c.90202A>G (p.Thr30068Ala)
c.90199A>G (p.Thr30067Ala)
c.87241A>G (p.Thr29081Ala)
c.68857A>G (p.Thr22953Ala)
c.90352A>G (p.Thr30118Ala)
c.90349A>G (p.Thr30117Ala)
c.89782A>G (p.Thr29928Ala)
c.87124A>G (p.Thr29042Ala)
c.87043A>G (p.Thr29015Ala)
c.68806A>G (p.Thr22936Ala)
c.58660A>G (p.Thr19554Ala)
2g.178544318T>GCA349456103TTN,TTN-AS1c.88207A>C (p.Thr29403Pro)
c.69292A>C (p.Thr23098Pro)
c.69091A>C (p.Thr23031Pro)
c.68716A>C (p.Thr22906Pro)
c.95911A>C (p.Thr31971Pro)
c.90988A>C (p.Thr30330Pro)
n.446+20682T>G
n.2043+1957T>G
c.95008A>C (p.Thr31670Pro)
c.68902A>C (p.Thr22968Pro)
c.68761A>C (p.Thr22921Pro)
c.94804A>C (p.Thr31602Pro)
c.90202A>C (p.Thr30068Pro)
c.90199A>C (p.Thr30067Pro)
c.87241A>C (p.Thr29081Pro)
c.68857A>C (p.Thr22953Pro)
c.90352A>C (p.Thr30118Pro)
c.90349A>C (p.Thr30117Pro)
c.89782A>C (p.Thr29928Pro)
c.87124A>C (p.Thr29042Pro)
c.87043A>C (p.Thr29015Pro)
c.68806A>C (p.Thr22936Pro)
c.58660A>C (p.Thr19554Pro)
2g.178544319G>ACA430241707TTN,TTN-AS1c.88206C>T (p.Phe29402=)
c.69291C>T (p.Phe23097=)
c.69090C>T (p.Phe23030=)
c.68715C>T (p.Phe22905=)
c.95910C>T (p.Phe31970=)
c.90987C>T (p.Phe30329=)
n.446+20683G>A
n.2043+1958G>A
c.95007C>T (p.Phe31669=)
c.68901C>T (p.Phe22967=)
c.68760C>T (p.Phe22920=)
c.94803C>T (p.Phe31601=)
c.90201C>T (p.Phe30067=)
c.90198C>T (p.Phe30066=)
c.87240C>T (p.Phe29080=)
c.68856C>T (p.Phe22952=)
c.90351C>T (p.Phe30117=)
c.90348C>T (p.Phe30116=)
c.89781C>T (p.Phe29927=)
c.87123C>T (p.Phe29041=)
c.87042C>T (p.Phe29014=)
c.68805C>T (p.Phe22935=)
c.58659C>T (p.Phe19553=)
2g.178544319G>CCA349456105TTN,TTN-AS1c.88206C>G (p.Phe29402Leu)
c.69291C>G (p.Phe23097Leu)
c.69090C>G (p.Phe23030Leu)
c.68715C>G (p.Phe22905Leu)
c.95910C>G (p.Phe31970Leu)
c.90987C>G (p.Phe30329Leu)
n.446+20683G>C
n.2043+1958G>C
c.95007C>G (p.Phe31669Leu)
c.68901C>G (p.Phe22967Leu)
c.68760C>G (p.Phe22920Leu)
c.94803C>G (p.Phe31601Leu)
c.90201C>G (p.Phe30067Leu)
c.90198C>G (p.Phe30066Leu)
c.87240C>G (p.Phe29080Leu)
c.68856C>G (p.Phe22952Leu)
c.90351C>G (p.Phe30117Leu)
c.90348C>G (p.Phe30116Leu)
c.89781C>G (p.Phe29927Leu)
c.87123C>G (p.Phe29041Leu)
c.87042C>G (p.Phe29014Leu)
c.68805C>G (p.Phe22935Leu)
c.58659C>G (p.Phe19553Leu)
gnomAD v4
2g.178544319G>TCA349456109TTN,TTN-AS1c.88206C>A (p.Phe29402Leu)
c.69291C>A (p.Phe23097Leu)
c.69090C>A (p.Phe23030Leu)
c.68715C>A (p.Phe22905Leu)
c.95910C>A (p.Phe31970Leu)
c.90987C>A (p.Phe30329Leu)
n.446+20683G>T
n.2043+1958G>T
c.95007C>A (p.Phe31669Leu)
c.68901C>A (p.Phe22967Leu)
c.68760C>A (p.Phe22920Leu)
c.94803C>A (p.Phe31601Leu)
c.90201C>A (p.Phe30067Leu)
c.90198C>A (p.Phe30066Leu)
c.87240C>A (p.Phe29080Leu)
c.68856C>A (p.Phe22952Leu)
c.90351C>A (p.Phe30117Leu)
c.90348C>A (p.Phe30116Leu)
c.89781C>A (p.Phe29927Leu)
c.87123C>A (p.Phe29041Leu)
c.87042C>A (p.Phe29014Leu)
c.68805C>A (p.Phe22935Leu)
c.58659C>A (p.Phe19553Leu)
2g.178544320A>CCA349456111TTN,TTN-AS1c.88205T>G (p.Phe29402Cys)
c.69290T>G (p.Phe23097Cys)
c.69089T>G (p.Phe23030Cys)
c.68714T>G (p.Phe22905Cys)
c.95909T>G (p.Phe31970Cys)
c.90986T>G (p.Phe30329Cys)
n.446+20684A>C
n.2043+1959A>C
c.95006T>G (p.Phe31669Cys)
c.68900T>G (p.Phe22967Cys)
c.68759T>G (p.Phe22920Cys)
c.94802T>G (p.Phe31601Cys)
c.90200T>G (p.Phe30067Cys)
c.90197T>G (p.Phe30066Cys)
c.87239T>G (p.Phe29080Cys)
c.68855T>G (p.Phe22952Cys)
c.90350T>G (p.Phe30117Cys)
c.90347T>G (p.Phe30116Cys)
c.89780T>G (p.Phe29927Cys)
c.87122T>G (p.Phe29041Cys)
c.87041T>G (p.Phe29014Cys)
c.68804T>G (p.Phe22935Cys)
c.58658T>G (p.Phe19553Cys)
2g.178544320A>GCA349456114TTN,TTN-AS1c.88205T>C (p.Phe29402Ser)
c.69290T>C (p.Phe23097Ser)
c.69089T>C (p.Phe23030Ser)
c.68714T>C (p.Phe22905Ser)
c.95909T>C (p.Phe31970Ser)
c.90986T>C (p.Phe30329Ser)
n.446+20684A>G
n.2043+1959A>G
c.95006T>C (p.Phe31669Ser)
c.68900T>C (p.Phe22967Ser)
c.68759T>C (p.Phe22920Ser)
c.94802T>C (p.Phe31601Ser)
c.90200T>C (p.Phe30067Ser)
c.90197T>C (p.Phe30066Ser)
c.87239T>C (p.Phe29080Ser)
c.68855T>C (p.Phe22952Ser)
c.90350T>C (p.Phe30117Ser)
c.90347T>C (p.Phe30116Ser)
c.89780T>C (p.Phe29927Ser)
c.87122T>C (p.Phe29041Ser)
c.87041T>C (p.Phe29014Ser)
c.68804T>C (p.Phe22935Ser)
c.58658T>C (p.Phe19553Ser)
2g.178544320A>TCA349456116TTN,TTN-AS1c.88205T>A (p.Phe29402Tyr)
c.69290T>A (p.Phe23097Tyr)
c.69089T>A (p.Phe23030Tyr)
c.68714T>A (p.Phe22905Tyr)
c.95909T>A (p.Phe31970Tyr)
c.90986T>A (p.Phe30329Tyr)
n.446+20684A>T
n.2043+1959A>T
c.95006T>A (p.Phe31669Tyr)
c.68900T>A (p.Phe22967Tyr)
c.68759T>A (p.Phe22920Tyr)
c.94802T>A (p.Phe31601Tyr)
c.90200T>A (p.Phe30067Tyr)
c.90197T>A (p.Phe30066Tyr)
c.87239T>A (p.Phe29080Tyr)
c.68855T>A (p.Phe22952Tyr)
c.90350T>A (p.Phe30117Tyr)
c.90347T>A (p.Phe30116Tyr)
c.89780T>A (p.Phe29927Tyr)
c.87122T>A (p.Phe29041Tyr)
c.87041T>A (p.Phe29014Tyr)
c.68804T>A (p.Phe22935Tyr)
c.58658T>A (p.Phe19553Tyr)
2g.178544321A>CCA349456127TTN,TTN-AS1c.88204T>G (p.Phe29402Val)
c.69289T>G (p.Phe23097Val)
c.69088T>G (p.Phe23030Val)
c.68713T>G (p.Phe22905Val)
c.95908T>G (p.Phe31970Val)
c.90985T>G (p.Phe30329Val)
n.446+20685A>C
n.2043+1960A>C
c.95005T>G (p.Phe31669Val)
c.68899T>G (p.Phe22967Val)
c.68758T>G (p.Phe22920Val)
c.94801T>G (p.Phe31601Val)
c.90199T>G (p.Phe30067Val)
c.90196T>G (p.Phe30066Val)
c.87238T>G (p.Phe29080Val)
c.68854T>G (p.Phe22952Val)
c.90349T>G (p.Phe30117Val)
c.90346T>G (p.Phe30116Val)
c.89779T>G (p.Phe29927Val)
c.87121T>G (p.Phe29041Val)
c.87040T>G (p.Phe29014Val)
c.68803T>G (p.Phe22935Val)
c.58657T>G (p.Phe19553Val)
2g.178544321A>GCA349456122TTN,TTN-AS1c.88204T>C (p.Phe29402Leu)
c.69289T>C (p.Phe23097Leu)
c.69088T>C (p.Phe23030Leu)
c.68713T>C (p.Phe22905Leu)
c.95908T>C (p.Phe31970Leu)
c.90985T>C (p.Phe30329Leu)
n.446+20685A>G
n.2043+1960A>G
c.95005T>C (p.Phe31669Leu)
c.68899T>C (p.Phe22967Leu)
c.68758T>C (p.Phe22920Leu)
c.94801T>C (p.Phe31601Leu)
c.90199T>C (p.Phe30067Leu)
c.90196T>C (p.Phe30066Leu)
c.87238T>C (p.Phe29080Leu)
c.68854T>C (p.Phe22952Leu)
c.90349T>C (p.Phe30117Leu)
c.90346T>C (p.Phe30116Leu)
c.89779T>C (p.Phe29927Leu)
c.87121T>C (p.Phe29041Leu)
c.87040T>C (p.Phe29014Leu)
c.68803T>C (p.Phe22935Leu)
c.58657T>C (p.Phe19553Leu)
2g.178544321A>TCA349456124TTN,TTN-AS1c.88204T>A (p.Phe29402Ile)
c.69289T>A (p.Phe23097Ile)
c.69088T>A (p.Phe23030Ile)
c.68713T>A (p.Phe22905Ile)
c.95908T>A (p.Phe31970Ile)
c.90985T>A (p.Phe30329Ile)
n.446+20685A>T
n.2043+1960A>T
c.95005T>A (p.Phe31669Ile)
c.68899T>A (p.Phe22967Ile)
c.68758T>A (p.Phe22920Ile)
c.94801T>A (p.Phe31601Ile)
c.90199T>A (p.Phe30067Ile)
c.90196T>A (p.Phe30066Ile)
c.87238T>A (p.Phe29080Ile)
c.68854T>A (p.Phe22952Ile)
c.90349T>A (p.Phe30117Ile)
c.90346T>A (p.Phe30116Ile)
c.89779T>A (p.Phe29927Ile)
c.87121T>A (p.Phe29041Ile)
c.87040T>A (p.Phe29014Ile)
c.68803T>A (p.Phe22935Ile)
c.58657T>A (p.Phe19553Ile)
2g.178544322T>ACA349456129TTN,TTN-AS1c.88203A>T (p.Glu29401Asp)
c.69288A>T (p.Glu23096Asp)
c.69087A>T (p.Glu23029Asp)
c.68712A>T (p.Glu22904Asp)
c.95907A>T (p.Glu31969Asp)
c.90984A>T (p.Glu30328Asp)
n.446+20686T>A
n.2043+1961T>A
c.95004A>T (p.Glu31668Asp)
c.68898A>T (p.Glu22966Asp)
c.68757A>T (p.Glu22919Asp)
c.94800A>T (p.Glu31600Asp)
c.90198A>T (p.Glu30066Asp)
c.90195A>T (p.Glu30065Asp)
c.87237A>T (p.Glu29079Asp)
c.68853A>T (p.Glu22951Asp)
c.90348A>T (p.Glu30116Asp)
c.90345A>T (p.Glu30115Asp)
c.89778A>T (p.Glu29926Asp)
c.87120A>T (p.Glu29040Asp)
c.87039A>T (p.Glu29013Asp)
c.68802A>T (p.Glu22934Asp)
c.58656A>T (p.Glu19552Asp)
2g.178544322T>CCA430241720TTN,TTN-AS1c.88203A>G (p.Glu29401=)
c.69288A>G (p.Glu23096=)
c.69087A>G (p.Glu23029=)
c.68712A>G (p.Glu22904=)
c.95907A>G (p.Glu31969=)
c.90984A>G (p.Glu30328=)
n.446+20686T>C
n.2043+1961T>C
c.95004A>G (p.Glu31668=)
c.68898A>G (p.Glu22966=)
c.68757A>G (p.Glu22919=)
c.94800A>G (p.Glu31600=)
c.90198A>G (p.Glu30066=)
c.90195A>G (p.Glu30065=)
c.87237A>G (p.Glu29079=)
c.68853A>G (p.Glu22951=)
c.90348A>G (p.Glu30116=)
c.90345A>G (p.Glu30115=)
c.89778A>G (p.Glu29926=)
c.87120A>G (p.Glu29040=)
c.87039A>G (p.Glu29013=)
c.68802A>G (p.Glu22934=)
c.58656A>G (p.Glu19552=)
2g.178544322T>GCA349456130TTN,TTN-AS1c.88203A>C (p.Glu29401Asp)
c.69288A>C (p.Glu23096Asp)
c.69087A>C (p.Glu23029Asp)
c.68712A>C (p.Glu22904Asp)
c.95907A>C (p.Glu31969Asp)
c.90984A>C (p.Glu30328Asp)
n.446+20686T>G
n.2043+1961T>G
c.95004A>C (p.Glu31668Asp)
c.68898A>C (p.Glu22966Asp)
c.68757A>C (p.Glu22919Asp)
c.94800A>C (p.Glu31600Asp)
c.90198A>C (p.Glu30066Asp)
c.90195A>C (p.Glu30065Asp)
c.87237A>C (p.Glu29079Asp)
c.68853A>C (p.Glu22951Asp)
c.90348A>C (p.Glu30116Asp)
c.90345A>C (p.Glu30115Asp)
c.89778A>C (p.Glu29926Asp)
c.87120A>C (p.Glu29040Asp)
c.87039A>C (p.Glu29013Asp)
c.68802A>C (p.Glu22934Asp)
c.58656A>C (p.Glu19552Asp)
2g.178544323T>ACA349456133TTN,TTN-AS1c.88202A>T (p.Glu29401Val)
c.69287A>T (p.Glu23096Val)
c.69086A>T (p.Glu23029Val)
c.68711A>T (p.Glu22904Val)
c.95906A>T (p.Glu31969Val)
c.90983A>T (p.Glu30328Val)
n.446+20687T>A
n.2043+1962T>A
c.95003A>T (p.Glu31668Val)
c.68897A>T (p.Glu22966Val)
c.68756A>T (p.Glu22919Val)
c.94799A>T (p.Glu31600Val)
c.90197A>T (p.Glu30066Val)
c.90194A>T (p.Glu30065Val)
c.87236A>T (p.Glu29079Val)
c.68852A>T (p.Glu22951Val)
c.90347A>T (p.Glu30116Val)
c.90344A>T (p.Glu30115Val)
c.89777A>T (p.Glu29926Val)
c.87119A>T (p.Glu29040Val)
c.87038A>T (p.Glu29013Val)
c.68801A>T (p.Glu22934Val)
c.58655A>T (p.Glu19552Val)
2g.178544323T>CCA349456139TTN,TTN-AS1c.88202A>G (p.Glu29401Gly)
c.69287A>G (p.Glu23096Gly)
c.69086A>G (p.Glu23029Gly)
c.68711A>G (p.Glu22904Gly)
c.95906A>G (p.Glu31969Gly)
c.90983A>G (p.Glu30328Gly)
n.446+20687T>C
n.2043+1962T>C
c.95003A>G (p.Glu31668Gly)
c.68897A>G (p.Glu22966Gly)
c.68756A>G (p.Glu22919Gly)
c.94799A>G (p.Glu31600Gly)
c.90197A>G (p.Glu30066Gly)
c.90194A>G (p.Glu30065Gly)
c.87236A>G (p.Glu29079Gly)
c.68852A>G (p.Glu22951Gly)
c.90347A>G (p.Glu30116Gly)
c.90344A>G (p.Glu30115Gly)
c.89777A>G (p.Glu29926Gly)
c.87119A>G (p.Glu29040Gly)
c.87038A>G (p.Glu29013Gly)
c.68801A>G (p.Glu22934Gly)
c.58655A>G (p.Glu19552Gly)
2g.178544323T>GCA349456141TTN,TTN-AS1c.88202A>C (p.Glu29401Ala)
c.69287A>C (p.Glu23096Ala)
c.69086A>C (p.Glu23029Ala)
c.68711A>C (p.Glu22904Ala)
c.95906A>C (p.Glu31969Ala)
c.90983A>C (p.Glu30328Ala)
n.446+20687T>G
n.2043+1962T>G
c.95003A>C (p.Glu31668Ala)
c.68897A>C (p.Glu22966Ala)
c.68756A>C (p.Glu22919Ala)
c.94799A>C (p.Glu31600Ala)
c.90197A>C (p.Glu30066Ala)
c.90194A>C (p.Glu30065Ala)
c.87236A>C (p.Glu29079Ala)
c.68852A>C (p.Glu22951Ala)
c.90347A>C (p.Glu30116Ala)
c.90344A>C (p.Glu30115Ala)
c.89777A>C (p.Glu29926Ala)
c.87119A>C (p.Glu29040Ala)
c.87038A>C (p.Glu29013Ala)
c.68801A>C (p.Glu22934Ala)
c.58655A>C (p.Glu19552Ala)
2g.178544324C>ACA349456142TTN,TTN-AS1c.88201G>T (p.Glu29401Ter)
c.69286G>T (p.Glu23096Ter)
c.69085G>T (p.Glu23029Ter)
c.68710G>T (p.Glu22904Ter)
c.95905G>T (p.Glu31969Ter)
c.90982G>T (p.Glu30328Ter)
n.446+20688C>A
n.2043+1963C>A
c.95002G>T (p.Glu31668Ter)
c.68896G>T (p.Glu22966Ter)
c.68755G>T (p.Glu22919Ter)
c.94798G>T (p.Glu31600Ter)
c.90196G>T (p.Glu30066Ter)
c.90193G>T (p.Glu30065Ter)
c.87235G>T (p.Glu29079Ter)
c.68851G>T (p.Glu22951Ter)
c.90346G>T (p.Glu30116Ter)
c.90343G>T (p.Glu30115Ter)
c.89776G>T (p.Glu29926Ter)
c.87118G>T (p.Glu29040Ter)
c.87037G>T (p.Glu29013Ter)
c.68800G>T (p.Glu22934Ter)
c.58654G>T (p.Glu19552Ter)
2g.178544324C>GCA349456145TTN,TTN-AS1c.88201G>C (p.Glu29401Gln)
c.69286G>C (p.Glu23096Gln)
c.69085G>C (p.Glu23029Gln)
c.68710G>C (p.Glu22904Gln)
c.95905G>C (p.Glu31969Gln)
c.90982G>C (p.Glu30328Gln)
n.446+20688C>G
n.2043+1963C>G
c.95002G>C (p.Glu31668Gln)
c.68896G>C (p.Glu22966Gln)
c.68755G>C (p.Glu22919Gln)
c.94798G>C (p.Glu31600Gln)
c.90196G>C (p.Glu30066Gln)
c.90193G>C (p.Glu30065Gln)
c.87235G>C (p.Glu29079Gln)
c.68851G>C (p.Glu22951Gln)
c.90346G>C (p.Glu30116Gln)
c.90343G>C (p.Glu30115Gln)
c.89776G>C (p.Glu29926Gln)
c.87118G>C (p.Glu29040Gln)
c.87037G>C (p.Glu29013Gln)
c.68800G>C (p.Glu22934Gln)
c.58654G>C (p.Glu19552Gln)
2g.178544324C>TCA349456147TTN,TTN-AS1c.88201G>A (p.Glu29401Lys)
c.69286G>A (p.Glu23096Lys)
c.69085G>A (p.Glu23029Lys)
c.68710G>A (p.Glu22904Lys)
c.95905G>A (p.Glu31969Lys)
c.90982G>A (p.Glu30328Lys)
n.446+20688C>T
n.2043+1963C>T
c.95002G>A (p.Glu31668Lys)
c.68896G>A (p.Glu22966Lys)
c.68755G>A (p.Glu22919Lys)
c.94798G>A (p.Glu31600Lys)
c.90196G>A (p.Glu30066Lys)
c.90193G>A (p.Glu30065Lys)
c.87235G>A (p.Glu29079Lys)
c.68851G>A (p.Glu22951Lys)
c.90346G>A (p.Glu30116Lys)
c.90343G>A (p.Glu30115Lys)
c.89776G>A (p.Glu29926Lys)
c.87118G>A (p.Glu29040Lys)
c.87037G>A (p.Glu29013Lys)
c.68800G>A (p.Glu22934Lys)
c.58654G>A (p.Glu19552Lys)
2g.178544325A>CCA430241726TTN,TTN-AS1c.88200T>G (p.Thr29400=)
c.69285T>G (p.Thr23095=)
c.69084T>G (p.Thr23028=)
c.68709T>G (p.Thr22903=)
c.95904T>G (p.Thr31968=)
c.90981T>G (p.Thr30327=)
n.446+20689A>C
n.2043+1964A>C
c.95001T>G (p.Thr31667=)
c.68895T>G (p.Thr22965=)
c.68754T>G (p.Thr22918=)
c.94797T>G (p.Thr31599=)
c.90195T>G (p.Thr30065=)
c.90192T>G (p.Thr30064=)
c.87234T>G (p.Thr29078=)
c.68850T>G (p.Thr22950=)
c.90345T>G (p.Thr30115=)
c.90342T>G (p.Thr30114=)
c.89775T>G (p.Thr29925=)
c.87117T>G (p.Thr29039=)
c.87036T>G (p.Thr29012=)
c.68799T>G (p.Thr22933=)
c.58653T>G (p.Thr19551=)
2g.178544325A>GCA430241727TTN,TTN-AS1c.88200T>C (p.Thr29400=)
c.69285T>C (p.Thr23095=)
c.69084T>C (p.Thr23028=)
c.68709T>C (p.Thr22903=)
c.95904T>C (p.Thr31968=)
c.90981T>C (p.Thr30327=)
n.446+20689A>G
n.2043+1964A>G
c.95001T>C (p.Thr31667=)
c.68895T>C (p.Thr22965=)
c.68754T>C (p.Thr22918=)
c.94797T>C (p.Thr31599=)
c.90195T>C (p.Thr30065=)
c.90192T>C (p.Thr30064=)
c.87234T>C (p.Thr29078=)
c.68850T>C (p.Thr22950=)
c.90345T>C (p.Thr30115=)
c.90342T>C (p.Thr30114=)
c.89775T>C (p.Thr29925=)
c.87117T>C (p.Thr29039=)
c.87036T>C (p.Thr29012=)
c.68799T>C (p.Thr22933=)
c.58653T>C (p.Thr19551=)
2g.178544325A>TCA430241728TTN,TTN-AS1c.88200T>A (p.Thr29400=)
c.69285T>A (p.Thr23095=)
c.69084T>A (p.Thr23028=)
c.68709T>A (p.Thr22903=)
c.95904T>A (p.Thr31968=)
c.90981T>A (p.Thr30327=)
n.446+20689A>T
n.2043+1964A>T
c.95001T>A (p.Thr31667=)
c.68895T>A (p.Thr22965=)
c.68754T>A (p.Thr22918=)
c.94797T>A (p.Thr31599=)
c.90195T>A (p.Thr30065=)
c.90192T>A (p.Thr30064=)
c.87234T>A (p.Thr29078=)
c.68850T>A (p.Thr22950=)
c.90345T>A (p.Thr30115=)
c.90342T>A (p.Thr30114=)
c.89775T>A (p.Thr29925=)
c.87117T>A (p.Thr29039=)
c.87036T>A (p.Thr29012=)
c.68799T>A (p.Thr22933=)
c.58653T>A (p.Thr19551=)

Number of alleles fetched