Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178544311G>A | CA1986854 | TTN,TTN-AS1 | c.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 |
2 | g.178544311G>C | CA349456029 | TTN,TTN-AS1 | c.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) | |
2 | g.178544311G= | CA1310521504 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544311G>T | CA349456037 | TTN,TTN-AS1 | c.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) | |
2 | g.178544312G>A | CA349456042 | TTN,TTN-AS1 | c.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) | |
2 | g.178544312G>C | CA349456046 | TTN,TTN-AS1 | c.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) | |
2 | g.178544312G>T | CA349456049 | TTN,TTN-AS1 | c.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) | |
2 | g.178544313C>A | CA430241690 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544313C= | CA1310521505 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544313C>G | CA430241692 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544313C>T | CA60970576 | TTN,TTN-AS1 | c.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 |
2 | g.178544314A= | CA1310521506 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544314A>C | CA349456067 | TTN,TTN-AS1 | c.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) | |
2 | g.178544314A>G | CA349456063 | TTN,TTN-AS1 | c.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 |
2 | g.178544314A>T | CA349456072 | TTN,TTN-AS1 | c.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) | |
2 | g.178544315C>A | CA349456074 | TTN,TTN-AS1 | c.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) | |
2 | g.178544315C= | CA1310521508 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544315C>G | CA349456079 | TTN,TTN-AS1 | c.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) | |
2 | g.178544315C>T | CA1986855 | TTN,TTN-AS1 | c.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 |
2 | g.178544316A= | CA1310521510 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544316A>C | CA430241698 | TTN,TTN-AS1 | c.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 |
2 | g.178544316A>G | CA430241699 | TTN,TTN-AS1 | c.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 |
2 | g.178544316A>T | CA430241700 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544317G>A | CA349456081 | TTN,TTN-AS1 | c.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) | |
2 | g.178544317G>C | CA349456083 | TTN,TTN-AS1 | c.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) | |
2 | g.178544317G>T | CA349456084 | TTN,TTN-AS1 | c.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) | |
2 | g.178544318T>A | CA349456088 | TTN,TTN-AS1 | c.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) | |
2 | g.178544318T>C | CA349456090 | TTN,TTN-AS1 | c.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) | |
2 | g.178544318T>G | CA349456103 | TTN,TTN-AS1 | c.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) | |
2 | g.178544319G>A | CA430241707 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544319G>C | CA349456105 | TTN,TTN-AS1 | c.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 |
2 | g.178544319G>T | CA349456109 | TTN,TTN-AS1 | c.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) | |
2 | g.178544320A>C | CA349456111 | TTN,TTN-AS1 | c.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) | |
2 | g.178544320A>G | CA349456114 | TTN,TTN-AS1 | c.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) | |
2 | g.178544320A>T | CA349456116 | TTN,TTN-AS1 | c.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) | |
2 | g.178544321A>C | CA349456127 | TTN,TTN-AS1 | c.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) | |
2 | g.178544321A>G | CA349456122 | TTN,TTN-AS1 | c.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) | |
2 | g.178544321A>T | CA349456124 | TTN,TTN-AS1 | c.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) | |
2 | g.178544322T>A | CA349456129 | TTN,TTN-AS1 | c.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) | |
2 | g.178544322T>C | CA430241720 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544322T>G | CA349456130 | TTN,TTN-AS1 | c.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) | |
2 | g.178544323T>A | CA349456133 | TTN,TTN-AS1 | c.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) | |
2 | g.178544323T>C | CA349456139 | TTN,TTN-AS1 | c.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) | |
2 | g.178544323T>G | CA349456141 | TTN,TTN-AS1 | c.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) | |
2 | g.178544324C>A | CA349456142 | TTN,TTN-AS1 | c.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) | |
2 | g.178544324C>G | CA349456145 | TTN,TTN-AS1 | c.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) | |
2 | g.178544324C>T | CA349456147 | TTN,TTN-AS1 | c.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) | |
2 | g.178544325A>C | CA430241726 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544325A>G | CA430241727 | TTN,TTN-AS1 | c.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=) | |
2 | g.178544325A>T | CA430241728 | TTN,TTN-AS1 | c.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=) |