| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178536061_178536063del | CA1039713039 | TTN,TTN-AS1 | c.92987_92989del (p.Asp30996del) c.74072_74074del (p.Asp24691del) c.73871_73873del (p.Asp24624del) c.73496_73498del (p.Asp24499del) c.100691_100693del (p.Asp33564del) c.95768_95770del (p.Asp31923del) n.446+12425_446+12427del n.316+233_316+235del c.99788_99790del (p.Asp33263del) c.73682_73684del (p.Asp24561del) c.73541_73543del (p.Asp24514del) c.99584_99586del (p.Asp33195del) c.94982_94984del (p.Asp31661del) c.94979_94981del (p.Asp31660del) c.92021_92023del (p.Asp30674del) c.73637_73639del (p.Asp24546del) c.95132_95134del (p.Asp31711del) c.95129_95131del (p.Asp31710del) c.94562_94564del (p.Asp31521del) c.91904_91906del (p.Asp30635del) c.91823_91825del (p.Asp30608del) c.73586_73588del (p.Asp24529del) c.63440_63442del (p.Asp21147del) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178536060C>A | CA349424965 | TTN,TTN-AS1 | c.92983G>T (p.Asp30995Tyr) c.74068G>T (p.Asp24690Tyr) c.73867G>T (p.Asp24623Tyr) c.73492G>T (p.Asp24498Tyr) c.100687G>T (p.Asp33563Tyr) c.95764G>T (p.Asp31922Tyr) n.446+12424C>A n.316+232C>A c.99784G>T (p.Asp33262Tyr) c.73678G>T (p.Asp24560Tyr) c.73537G>T (p.Asp24513Tyr) c.99580G>T (p.Asp33194Tyr) c.94978G>T (p.Asp31660Tyr) c.94975G>T (p.Asp31659Tyr) c.92017G>T (p.Asp30673Tyr) c.73633G>T (p.Asp24545Tyr) c.95128G>T (p.Asp31710Tyr) c.95125G>T (p.Asp31709Tyr) c.94558G>T (p.Asp31520Tyr) c.91900G>T (p.Asp30634Tyr) c.91819G>T (p.Asp30607Tyr) c.73582G>T (p.Asp24528Tyr) c.63436G>T (p.Asp21146Tyr) | |
| 2 | g.178536060C= | CA1310514549 | TTN,TTN-AS1 | c.92983G= (p.Asp30995=) c.74068G= (p.Asp24690=) c.73867G= (p.Asp24623=) c.73492G= (p.Asp24498=) c.100687G= (p.Asp33563=) c.95764G= (p.Asp31922=) n.446+12424C= n.316+232C= c.99784G= (p.Asp33262=) c.73678G= (p.Asp24560=) c.73537G= (p.Asp24513=) c.99580G= (p.Asp33194=) c.94978G= (p.Asp31660=) c.94975G= (p.Asp31659=) c.92017G= (p.Asp30673=) c.73633G= (p.Asp24545=) c.95128G= (p.Asp31710=) c.95125G= (p.Asp31709=) c.94558G= (p.Asp31520=) c.91900G= (p.Asp30634=) c.91819G= (p.Asp30607=) c.73582G= (p.Asp24528=) c.63436G= (p.Asp21146=) | |
| 2 | g.178536060C>G | CA349424968 | TTN,TTN-AS1 | c.92983G>C (p.Asp30995His) c.74068G>C (p.Asp24690His) c.73867G>C (p.Asp24623His) c.73492G>C (p.Asp24498His) c.100687G>C (p.Asp33563His) c.95764G>C (p.Asp31922His) n.446+12424C>G n.316+232C>G c.99784G>C (p.Asp33262His) c.73678G>C (p.Asp24560His) c.73537G>C (p.Asp24513His) c.99580G>C (p.Asp33194His) c.94978G>C (p.Asp31660His) c.94975G>C (p.Asp31659His) c.92017G>C (p.Asp30673His) c.73633G>C (p.Asp24545His) c.95128G>C (p.Asp31710His) c.95125G>C (p.Asp31709His) c.94558G>C (p.Asp31520His) c.91900G>C (p.Asp30634His) c.91819G>C (p.Asp30607His) c.73582G>C (p.Asp24528His) c.63436G>C (p.Asp21146His) | |
| 2 | g.178536060C>T | CA1986005 | TTN,TTN-AS1 | c.92983G>A (p.Asp30995Asn) c.74068G>A (p.Asp24690Asn) c.73867G>A (p.Asp24623Asn) c.73492G>A (p.Asp24498Asn) c.100687G>A (p.Asp33563Asn) c.95764G>A (p.Asp31922Asn) n.446+12424C>T n.316+232C>T c.99784G>A (p.Asp33262Asn) c.73678G>A (p.Asp24560Asn) c.73537G>A (p.Asp24513Asn) c.99580G>A (p.Asp33194Asn) c.94978G>A (p.Asp31660Asn) c.94975G>A (p.Asp31659Asn) c.92017G>A (p.Asp30673Asn) c.73633G>A (p.Asp24545Asn) c.95128G>A (p.Asp31710Asn) c.95125G>A (p.Asp31709Asn) c.94558G>A (p.Asp31520Asn) c.91900G>A (p.Asp30634Asn) c.91819G>A (p.Asp30607Asn) c.73582G>A (p.Asp24528Asn) c.63436G>A (p.Asp21146Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178536061A>C | CA349424969 | TTN,TTN-AS1 | c.92982T>G (p.Asp30994Glu) c.74067T>G (p.Asp24689Glu) c.73866T>G (p.Asp24622Glu) c.73491T>G (p.Asp24497Glu) c.100686T>G (p.Asp33562Glu) c.95763T>G (p.Asp31921Glu) n.446+12425A>C n.316+233A>C c.99783T>G (p.Asp33261Glu) c.73677T>G (p.Asp24559Glu) c.73536T>G (p.Asp24512Glu) c.99579T>G (p.Asp33193Glu) c.94977T>G (p.Asp31659Glu) c.94974T>G (p.Asp31658Glu) c.92016T>G (p.Asp30672Glu) c.73632T>G (p.Asp24544Glu) c.95127T>G (p.Asp31709Glu) c.95124T>G (p.Asp31708Glu) c.94557T>G (p.Asp31519Glu) c.91899T>G (p.Asp30633Glu) c.91818T>G (p.Asp30606Glu) c.73581T>G (p.Asp24527Glu) c.63435T>G (p.Asp21145Glu) | |
| 2 | g.178536061A>G | CA430238156 | TTN,TTN-AS1 | c.92982T>C (p.Asp30994=) c.74067T>C (p.Asp24689=) c.73866T>C (p.Asp24622=) c.73491T>C (p.Asp24497=) c.100686T>C (p.Asp33562=) c.95763T>C (p.Asp31921=) n.446+12425A>G n.316+233A>G c.99783T>C (p.Asp33261=) c.73677T>C (p.Asp24559=) c.73536T>C (p.Asp24512=) c.99579T>C (p.Asp33193=) c.94977T>C (p.Asp31659=) c.94974T>C (p.Asp31658=) c.92016T>C (p.Asp30672=) c.73632T>C (p.Asp24544=) c.95127T>C (p.Asp31709=) c.95124T>C (p.Asp31708=) c.94557T>C (p.Asp31519=) c.91899T>C (p.Asp30633=) c.91818T>C (p.Asp30606=) c.73581T>C (p.Asp24527=) c.63435T>C (p.Asp21145=) | gnomAD v4 |
| 2 | g.178536061A>T | CA349424971 | TTN,TTN-AS1 | c.92982T>A (p.Asp30994Glu) c.74067T>A (p.Asp24689Glu) c.73866T>A (p.Asp24622Glu) c.73491T>A (p.Asp24497Glu) c.100686T>A (p.Asp33562Glu) c.95763T>A (p.Asp31921Glu) n.446+12425A>T n.316+233A>T c.99783T>A (p.Asp33261Glu) c.73677T>A (p.Asp24559Glu) c.73536T>A (p.Asp24512Glu) c.99579T>A (p.Asp33193Glu) c.94977T>A (p.Asp31659Glu) c.94974T>A (p.Asp31658Glu) c.92016T>A (p.Asp30672Glu) c.73632T>A (p.Asp24544Glu) c.95127T>A (p.Asp31709Glu) c.95124T>A (p.Asp31708Glu) c.94557T>A (p.Asp31519Glu) c.91899T>A (p.Asp30633Glu) c.91818T>A (p.Asp30606Glu) c.73581T>A (p.Asp24527Glu) c.63435T>A (p.Asp21145Glu) | |
| 2 | g.178536062T>A | CA349424973 | TTN,TTN-AS1 | c.92981A>T (p.Asp30994Val) c.74066A>T (p.Asp24689Val) c.73865A>T (p.Asp24622Val) c.73490A>T (p.Asp24497Val) c.100685A>T (p.Asp33562Val) c.95762A>T (p.Asp31921Val) n.446+12426T>A n.316+234T>A c.99782A>T (p.Asp33261Val) c.73676A>T (p.Asp24559Val) c.73535A>T (p.Asp24512Val) c.99578A>T (p.Asp33193Val) c.94976A>T (p.Asp31659Val) c.94973A>T (p.Asp31658Val) c.92015A>T (p.Asp30672Val) c.73631A>T (p.Asp24544Val) c.95126A>T (p.Asp31709Val) c.95123A>T (p.Asp31708Val) c.94556A>T (p.Asp31519Val) c.91898A>T (p.Asp30633Val) c.91817A>T (p.Asp30606Val) c.73580A>T (p.Asp24527Val) c.63434A>T (p.Asp21145Val) | |
| 2 | g.178536062T>C | CA349424976 | TTN,TTN-AS1 | c.92981A>G (p.Asp30994Gly) c.74066A>G (p.Asp24689Gly) c.73865A>G (p.Asp24622Gly) c.73490A>G (p.Asp24497Gly) c.100685A>G (p.Asp33562Gly) c.95762A>G (p.Asp31921Gly) n.446+12426T>C n.316+234T>C c.99782A>G (p.Asp33261Gly) c.73676A>G (p.Asp24559Gly) c.73535A>G (p.Asp24512Gly) c.99578A>G (p.Asp33193Gly) c.94976A>G (p.Asp31659Gly) c.94973A>G (p.Asp31658Gly) c.92015A>G (p.Asp30672Gly) c.73631A>G (p.Asp24544Gly) c.95126A>G (p.Asp31709Gly) c.95123A>G (p.Asp31708Gly) c.94556A>G (p.Asp31519Gly) c.91898A>G (p.Asp30633Gly) c.91817A>G (p.Asp30606Gly) c.73580A>G (p.Asp24527Gly) c.63434A>G (p.Asp21145Gly) | |
| 2 | g.178536062T>G | CA349424975 | TTN,TTN-AS1 | c.92981A>C (p.Asp30994Ala) c.74066A>C (p.Asp24689Ala) c.73865A>C (p.Asp24622Ala) c.73490A>C (p.Asp24497Ala) c.100685A>C (p.Asp33562Ala) c.95762A>C (p.Asp31921Ala) n.446+12426T>G n.316+234T>G c.99782A>C (p.Asp33261Ala) c.73676A>C (p.Asp24559Ala) c.73535A>C (p.Asp24512Ala) c.99578A>C (p.Asp33193Ala) c.94976A>C (p.Asp31659Ala) c.94973A>C (p.Asp31658Ala) c.92015A>C (p.Asp30672Ala) c.73631A>C (p.Asp24544Ala) c.95126A>C (p.Asp31709Ala) c.95123A>C (p.Asp31708Ala) c.94556A>C (p.Asp31519Ala) c.91898A>C (p.Asp30633Ala) c.91817A>C (p.Asp30606Ala) c.73580A>C (p.Asp24527Ala) c.63434A>C (p.Asp21145Ala) | |
| 2 | g.178536063C>A | CA349424978 | TTN,TTN-AS1 | c.92980G>T (p.Asp30994Tyr) c.74065G>T (p.Asp24689Tyr) c.73864G>T (p.Asp24622Tyr) c.73489G>T (p.Asp24497Tyr) c.100684G>T (p.Asp33562Tyr) c.95761G>T (p.Asp31921Tyr) n.446+12427C>A n.316+235C>A c.99781G>T (p.Asp33261Tyr) c.73675G>T (p.Asp24559Tyr) c.73534G>T (p.Asp24512Tyr) c.99577G>T (p.Asp33193Tyr) c.94975G>T (p.Asp31659Tyr) c.94972G>T (p.Asp31658Tyr) c.92014G>T (p.Asp30672Tyr) c.73630G>T (p.Asp24544Tyr) c.95125G>T (p.Asp31709Tyr) c.95122G>T (p.Asp31708Tyr) c.94555G>T (p.Asp31519Tyr) c.91897G>T (p.Asp30633Tyr) c.91816G>T (p.Asp30606Tyr) c.73579G>T (p.Asp24527Tyr) c.63433G>T (p.Asp21145Tyr) | |
| 2 | g.178536063C>G | CA349424981 | TTN,TTN-AS1 | c.92980G>C (p.Asp30994His) c.74065G>C (p.Asp24689His) c.73864G>C (p.Asp24622His) c.73489G>C (p.Asp24497His) c.100684G>C (p.Asp33562His) c.95761G>C (p.Asp31921His) n.446+12427C>G n.316+235C>G c.99781G>C (p.Asp33261His) c.73675G>C (p.Asp24559His) c.73534G>C (p.Asp24512His) c.99577G>C (p.Asp33193His) c.94975G>C (p.Asp31659His) c.94972G>C (p.Asp31658His) c.92014G>C (p.Asp30672His) c.73630G>C (p.Asp24544His) c.95125G>C (p.Asp31709His) c.95122G>C (p.Asp31708His) c.94555G>C (p.Asp31519His) c.91897G>C (p.Asp30633His) c.91816G>C (p.Asp30606His) c.73579G>C (p.Asp24527His) c.63433G>C (p.Asp21145His) | |
| 2 | g.178536063C>T | CA349424979 | TTN,TTN-AS1 | c.92980G>A (p.Asp30994Asn) c.74065G>A (p.Asp24689Asn) c.73864G>A (p.Asp24622Asn) c.73489G>A (p.Asp24497Asn) c.100684G>A (p.Asp33562Asn) c.95761G>A (p.Asp31921Asn) n.446+12427C>T n.316+235C>T c.99781G>A (p.Asp33261Asn) c.73675G>A (p.Asp24559Asn) c.73534G>A (p.Asp24512Asn) c.99577G>A (p.Asp33193Asn) c.94975G>A (p.Asp31659Asn) c.94972G>A (p.Asp31658Asn) c.92014G>A (p.Asp30672Asn) c.73630G>A (p.Asp24544Asn) c.95125G>A (p.Asp31709Asn) c.95122G>A (p.Asp31708Asn) c.94555G>A (p.Asp31519Asn) c.91897G>A (p.Asp30633Asn) c.91816G>A (p.Asp30606Asn) c.73579G>A (p.Asp24527Asn) c.63433G>A (p.Asp21145Asn) | |
| 2 | g.178536064T>A | CA430238178 | TTN,TTN-AS1 | c.92979A>T (p.Thr30993=) c.74064A>T (p.Thr24688=) c.73863A>T (p.Thr24621=) c.73488A>T (p.Thr24496=) c.100683A>T (p.Thr33561=) c.95760A>T (p.Thr31920=) n.446+12428T>A n.316+236T>A c.99780A>T (p.Thr33260=) c.73674A>T (p.Thr24558=) c.73533A>T (p.Thr24511=) c.99576A>T (p.Thr33192=) c.94974A>T (p.Thr31658=) c.94971A>T (p.Thr31657=) c.92013A>T (p.Thr30671=) c.73629A>T (p.Thr24543=) c.95124A>T (p.Thr31708=) c.95121A>T (p.Thr31707=) c.94554A>T (p.Thr31518=) c.91896A>T (p.Thr30632=) c.91815A>T (p.Thr30605=) c.73578A>T (p.Thr24526=) c.63432A>T (p.Thr21144=) | |
| 2 | g.178536064T>C | CA430238179 | TTN,TTN-AS1 | c.92979A>G (p.Thr30993=) c.74064A>G (p.Thr24688=) c.73863A>G (p.Thr24621=) c.73488A>G (p.Thr24496=) c.100683A>G (p.Thr33561=) c.95760A>G (p.Thr31920=) n.446+12428T>C n.316+236T>C c.99780A>G (p.Thr33260=) c.73674A>G (p.Thr24558=) c.73533A>G (p.Thr24511=) c.99576A>G (p.Thr33192=) c.94974A>G (p.Thr31658=) c.94971A>G (p.Thr31657=) c.92013A>G (p.Thr30671=) c.73629A>G (p.Thr24543=) c.95124A>G (p.Thr31708=) c.95121A>G (p.Thr31707=) c.94554A>G (p.Thr31518=) c.91896A>G (p.Thr30632=) c.91815A>G (p.Thr30605=) c.73578A>G (p.Thr24526=) c.63432A>G (p.Thr21144=) | |
| 2 | g.178536064T>G | CA430238180 | TTN,TTN-AS1 | c.92979A>C (p.Thr30993=) c.74064A>C (p.Thr24688=) c.73863A>C (p.Thr24621=) c.73488A>C (p.Thr24496=) c.100683A>C (p.Thr33561=) c.95760A>C (p.Thr31920=) n.446+12428T>G n.316+236T>G c.99780A>C (p.Thr33260=) c.73674A>C (p.Thr24558=) c.73533A>C (p.Thr24511=) c.99576A>C (p.Thr33192=) c.94974A>C (p.Thr31658=) c.94971A>C (p.Thr31657=) c.92013A>C (p.Thr30671=) c.73629A>C (p.Thr24543=) c.95124A>C (p.Thr31708=) c.95121A>C (p.Thr31707=) c.94554A>C (p.Thr31518=) c.91896A>C (p.Thr30632=) c.91815A>C (p.Thr30605=) c.73578A>C (p.Thr24526=) c.63432A>C (p.Thr21144=) | |
| 2 | g.178536065G>A | CA349424982 | TTN,TTN-AS1 | c.92978C>T (p.Thr30993Ile) c.74063C>T (p.Thr24688Ile) c.73862C>T (p.Thr24621Ile) c.73487C>T (p.Thr24496Ile) c.100682C>T (p.Thr33561Ile) c.95759C>T (p.Thr31920Ile) n.446+12429G>A n.316+237G>A c.99779C>T (p.Thr33260Ile) c.73673C>T (p.Thr24558Ile) c.73532C>T (p.Thr24511Ile) c.99575C>T (p.Thr33192Ile) c.94973C>T (p.Thr31658Ile) c.94970C>T (p.Thr31657Ile) c.92012C>T (p.Thr30671Ile) c.73628C>T (p.Thr24543Ile) c.95123C>T (p.Thr31708Ile) c.95120C>T (p.Thr31707Ile) c.94553C>T (p.Thr31518Ile) c.91895C>T (p.Thr30632Ile) c.91814C>T (p.Thr30605Ile) c.73577C>T (p.Thr24526Ile) c.63431C>T (p.Thr21144Ile) | |
| 2 | g.178536065G>C | CA349424983 | TTN,TTN-AS1 | c.92978C>G (p.Thr30993Arg) c.74063C>G (p.Thr24688Arg) c.73862C>G (p.Thr24621Arg) c.73487C>G (p.Thr24496Arg) c.100682C>G (p.Thr33561Arg) c.95759C>G (p.Thr31920Arg) n.446+12429G>C n.316+237G>C c.99779C>G (p.Thr33260Arg) c.73673C>G (p.Thr24558Arg) c.73532C>G (p.Thr24511Arg) c.99575C>G (p.Thr33192Arg) c.94973C>G (p.Thr31658Arg) c.94970C>G (p.Thr31657Arg) c.92012C>G (p.Thr30671Arg) c.73628C>G (p.Thr24543Arg) c.95123C>G (p.Thr31708Arg) c.95120C>G (p.Thr31707Arg) c.94553C>G (p.Thr31518Arg) c.91895C>G (p.Thr30632Arg) c.91814C>G (p.Thr30605Arg) c.73577C>G (p.Thr24526Arg) c.63431C>G (p.Thr21144Arg) | |
| 2 | g.178536065G>T | CA349424985 | TTN,TTN-AS1 | c.92978C>A (p.Thr30993Lys) c.74063C>A (p.Thr24688Lys) c.73862C>A (p.Thr24621Lys) c.73487C>A (p.Thr24496Lys) c.100682C>A (p.Thr33561Lys) c.95759C>A (p.Thr31920Lys) n.446+12429G>T n.316+237G>T c.99779C>A (p.Thr33260Lys) c.73673C>A (p.Thr24558Lys) c.73532C>A (p.Thr24511Lys) c.99575C>A (p.Thr33192Lys) c.94973C>A (p.Thr31658Lys) c.94970C>A (p.Thr31657Lys) c.92012C>A (p.Thr30671Lys) c.73628C>A (p.Thr24543Lys) c.95123C>A (p.Thr31708Lys) c.95120C>A (p.Thr31707Lys) c.94553C>A (p.Thr31518Lys) c.91895C>A (p.Thr30632Lys) c.91814C>A (p.Thr30605Lys) c.73577C>A (p.Thr24526Lys) c.63431C>A (p.Thr21144Lys) | |
| 2 | g.178536066T>A | CA349424987 | TTN,TTN-AS1 | c.92977A>T (p.Thr30993Ser) c.74062A>T (p.Thr24688Ser) c.73861A>T (p.Thr24621Ser) c.73486A>T (p.Thr24496Ser) c.100681A>T (p.Thr33561Ser) c.95758A>T (p.Thr31920Ser) n.446+12430T>A n.316+238T>A c.99778A>T (p.Thr33260Ser) c.73672A>T (p.Thr24558Ser) c.73531A>T (p.Thr24511Ser) c.99574A>T (p.Thr33192Ser) c.94972A>T (p.Thr31658Ser) c.94969A>T (p.Thr31657Ser) c.92011A>T (p.Thr30671Ser) c.73627A>T (p.Thr24543Ser) c.95122A>T (p.Thr31708Ser) c.95119A>T (p.Thr31707Ser) c.94552A>T (p.Thr31518Ser) c.91894A>T (p.Thr30632Ser) c.91813A>T (p.Thr30605Ser) c.73576A>T (p.Thr24526Ser) c.63430A>T (p.Thr21144Ser) | |
| 2 | g.178536066T>C | CA349424988 | TTN,TTN-AS1 | c.92977A>G (p.Thr30993Ala) c.74062A>G (p.Thr24688Ala) c.73861A>G (p.Thr24621Ala) c.73486A>G (p.Thr24496Ala) c.100681A>G (p.Thr33561Ala) c.95758A>G (p.Thr31920Ala) n.446+12430T>C n.316+238T>C c.99778A>G (p.Thr33260Ala) c.73672A>G (p.Thr24558Ala) c.73531A>G (p.Thr24511Ala) c.99574A>G (p.Thr33192Ala) c.94972A>G (p.Thr31658Ala) c.94969A>G (p.Thr31657Ala) c.92011A>G (p.Thr30671Ala) c.73627A>G (p.Thr24543Ala) c.95122A>G (p.Thr31708Ala) c.95119A>G (p.Thr31707Ala) c.94552A>G (p.Thr31518Ala) c.91894A>G (p.Thr30632Ala) c.91813A>G (p.Thr30605Ala) c.73576A>G (p.Thr24526Ala) c.63430A>G (p.Thr21144Ala) | |
| 2 | g.178536066T>G | CA349424989 | TTN,TTN-AS1 | c.92977A>C (p.Thr30993Pro) c.74062A>C (p.Thr24688Pro) c.73861A>C (p.Thr24621Pro) c.73486A>C (p.Thr24496Pro) c.100681A>C (p.Thr33561Pro) c.95758A>C (p.Thr31920Pro) n.446+12430T>G n.316+238T>G c.99778A>C (p.Thr33260Pro) c.73672A>C (p.Thr24558Pro) c.73531A>C (p.Thr24511Pro) c.99574A>C (p.Thr33192Pro) c.94972A>C (p.Thr31658Pro) c.94969A>C (p.Thr31657Pro) c.92011A>C (p.Thr30671Pro) c.73627A>C (p.Thr24543Pro) c.95122A>C (p.Thr31708Pro) c.95119A>C (p.Thr31707Pro) c.94552A>C (p.Thr31518Pro) c.91894A>C (p.Thr30632Pro) c.91813A>C (p.Thr30605Pro) c.73576A>C (p.Thr24526Pro) c.63430A>C (p.Thr21144Pro) | |
| 2 | g.178536067G>A | CA430238106 | TTN,TTN-AS1 | c.92976C>T (p.Val30992=) c.74061C>T (p.Val24687=) c.73860C>T (p.Val24620=) c.73485C>T (p.Val24495=) c.100680C>T (p.Val33560=) c.95757C>T (p.Val31919=) n.446+12431G>A n.316+239G>A c.99777C>T (p.Val33259=) c.73671C>T (p.Val24557=) c.73530C>T (p.Val24510=) c.99573C>T (p.Val33191=) c.94971C>T (p.Val31657=) c.94968C>T (p.Val31656=) c.92010C>T (p.Val30670=) c.73626C>T (p.Val24542=) c.95121C>T (p.Val31707=) c.95118C>T (p.Val31706=) c.94551C>T (p.Val31517=) c.91893C>T (p.Val30631=) c.91812C>T (p.Val30604=) c.73575C>T (p.Val24525=) c.63429C>T (p.Val21143=) | |
| 2 | g.178536067G>C | CA430238109 | TTN,TTN-AS1 | c.92976C>G (p.Val30992=) c.74061C>G (p.Val24687=) c.73860C>G (p.Val24620=) c.73485C>G (p.Val24495=) c.100680C>G (p.Val33560=) c.95757C>G (p.Val31919=) n.446+12431G>C n.316+239G>C c.99777C>G (p.Val33259=) c.73671C>G (p.Val24557=) c.73530C>G (p.Val24510=) c.99573C>G (p.Val33191=) c.94971C>G (p.Val31657=) c.94968C>G (p.Val31656=) c.92010C>G (p.Val30670=) c.73626C>G (p.Val24542=) c.95121C>G (p.Val31707=) c.95118C>G (p.Val31706=) c.94551C>G (p.Val31517=) c.91893C>G (p.Val30631=) c.91812C>G (p.Val30604=) c.73575C>G (p.Val24525=) c.63429C>G (p.Val21143=) | |
| 2 | g.178536067G>T | CA430238114 | TTN,TTN-AS1 | c.92976C>A (p.Val30992=) c.74061C>A (p.Val24687=) c.73860C>A (p.Val24620=) c.73485C>A (p.Val24495=) c.100680C>A (p.Val33560=) c.95757C>A (p.Val31919=) n.446+12431G>T n.316+239G>T c.99777C>A (p.Val33259=) c.73671C>A (p.Val24557=) c.73530C>A (p.Val24510=) c.99573C>A (p.Val33191=) c.94971C>A (p.Val31657=) c.94968C>A (p.Val31656=) c.92010C>A (p.Val30670=) c.73626C>A (p.Val24542=) c.95121C>A (p.Val31707=) c.95118C>A (p.Val31706=) c.94551C>A (p.Val31517=) c.91893C>A (p.Val30631=) c.91812C>A (p.Val30604=) c.73575C>A (p.Val24525=) c.63429C>A (p.Val21143=) | |
| 2 | g.178536068A>C | CA349424992 | TTN,TTN-AS1 | c.92975T>G (p.Val30992Gly) c.74060T>G (p.Val24687Gly) c.73859T>G (p.Val24620Gly) c.73484T>G (p.Val24495Gly) c.100679T>G (p.Val33560Gly) c.95756T>G (p.Val31919Gly) n.446+12432A>C n.316+240A>C c.99776T>G (p.Val33259Gly) c.73670T>G (p.Val24557Gly) c.73529T>G (p.Val24510Gly) c.99572T>G (p.Val33191Gly) c.94970T>G (p.Val31657Gly) c.94967T>G (p.Val31656Gly) c.92009T>G (p.Val30670Gly) c.73625T>G (p.Val24542Gly) c.95120T>G (p.Val31707Gly) c.95117T>G (p.Val31706Gly) c.94550T>G (p.Val31517Gly) c.91892T>G (p.Val30631Gly) c.91811T>G (p.Val30604Gly) c.73574T>G (p.Val24525Gly) c.63428T>G (p.Val21143Gly) | |
| 2 | g.178536068A>G | CA349424994 | TTN,TTN-AS1 | c.92975T>C (p.Val30992Ala) c.74060T>C (p.Val24687Ala) c.73859T>C (p.Val24620Ala) c.73484T>C (p.Val24495Ala) c.100679T>C (p.Val33560Ala) c.95756T>C (p.Val31919Ala) n.446+12432A>G n.316+240A>G c.99776T>C (p.Val33259Ala) c.73670T>C (p.Val24557Ala) c.73529T>C (p.Val24510Ala) c.99572T>C (p.Val33191Ala) c.94970T>C (p.Val31657Ala) c.94967T>C (p.Val31656Ala) c.92009T>C (p.Val30670Ala) c.73625T>C (p.Val24542Ala) c.95120T>C (p.Val31707Ala) c.95117T>C (p.Val31706Ala) c.94550T>C (p.Val31517Ala) c.91892T>C (p.Val30631Ala) c.91811T>C (p.Val30604Ala) c.73574T>C (p.Val24525Ala) c.63428T>C (p.Val21143Ala) | |
| 2 | g.178536068A>T | CA349424995 | TTN,TTN-AS1 | c.92975T>A (p.Val30992Asp) c.74060T>A (p.Val24687Asp) c.73859T>A (p.Val24620Asp) c.73484T>A (p.Val24495Asp) c.100679T>A (p.Val33560Asp) c.95756T>A (p.Val31919Asp) n.446+12432A>T n.316+240A>T c.99776T>A (p.Val33259Asp) c.73670T>A (p.Val24557Asp) c.73529T>A (p.Val24510Asp) c.99572T>A (p.Val33191Asp) c.94970T>A (p.Val31657Asp) c.94967T>A (p.Val31656Asp) c.92009T>A (p.Val30670Asp) c.73625T>A (p.Val24542Asp) c.95120T>A (p.Val31707Asp) c.95117T>A (p.Val31706Asp) c.94550T>A (p.Val31517Asp) c.91892T>A (p.Val30631Asp) c.91811T>A (p.Val30604Asp) c.73574T>A (p.Val24525Asp) c.63428T>A (p.Val21143Asp) | |
| 2 | g.178536069C>A | CA349424996 | TTN,TTN-AS1 | c.92974G>T (p.Val30992Phe) c.74059G>T (p.Val24687Phe) c.73858G>T (p.Val24620Phe) c.73483G>T (p.Val24495Phe) c.100678G>T (p.Val33560Phe) c.95755G>T (p.Val31919Phe) n.446+12433C>A n.316+241C>A c.99775G>T (p.Val33259Phe) c.73669G>T (p.Val24557Phe) c.73528G>T (p.Val24510Phe) c.99571G>T (p.Val33191Phe) c.94969G>T (p.Val31657Phe) c.94966G>T (p.Val31656Phe) c.92008G>T (p.Val30670Phe) c.73624G>T (p.Val24542Phe) c.95119G>T (p.Val31707Phe) c.95116G>T (p.Val31706Phe) c.94549G>T (p.Val31517Phe) c.91891G>T (p.Val30631Phe) c.91810G>T (p.Val30604Phe) c.73573G>T (p.Val24525Phe) c.63427G>T (p.Val21143Phe) | |
| 2 | g.178536069C= | CA1310514550 | TTN,TTN-AS1 | c.92974G= (p.Val30992=) c.74059G= (p.Val24687=) c.73858G= (p.Val24620=) c.73483G= (p.Val24495=) c.100678G= (p.Val33560=) c.95755G= (p.Val31919=) n.446+12433C= n.316+241C= c.99775G= (p.Val33259=) c.73669G= (p.Val24557=) c.73528G= (p.Val24510=) c.99571G= (p.Val33191=) c.94969G= (p.Val31657=) c.94966G= (p.Val31656=) c.92008G= (p.Val30670=) c.73624G= (p.Val24542=) c.95119G= (p.Val31707=) c.95116G= (p.Val31706=) c.94549G= (p.Val31517=) c.91891G= (p.Val30631=) c.91810G= (p.Val30604=) c.73573G= (p.Val24525=) c.63427G= (p.Val21143=) | |
| 2 | g.178536069C>G | CA349424998 | TTN,TTN-AS1 | c.92974G>C (p.Val30992Leu) c.74059G>C (p.Val24687Leu) c.73858G>C (p.Val24620Leu) c.73483G>C (p.Val24495Leu) c.100678G>C (p.Val33560Leu) c.95755G>C (p.Val31919Leu) n.446+12433C>G n.316+241C>G c.99775G>C (p.Val33259Leu) c.73669G>C (p.Val24557Leu) c.73528G>C (p.Val24510Leu) c.99571G>C (p.Val33191Leu) c.94969G>C (p.Val31657Leu) c.94966G>C (p.Val31656Leu) c.92008G>C (p.Val30670Leu) c.73624G>C (p.Val24542Leu) c.95119G>C (p.Val31707Leu) c.95116G>C (p.Val31706Leu) c.94549G>C (p.Val31517Leu) c.91891G>C (p.Val30631Leu) c.91810G>C (p.Val30604Leu) c.73573G>C (p.Val24525Leu) c.63427G>C (p.Val21143Leu) | |
| 2 | g.178536069C>T | CA349424999 | TTN,TTN-AS1 | c.92974G>A (p.Val30992Ile) c.74059G>A (p.Val24687Ile) c.73858G>A (p.Val24620Ile) c.73483G>A (p.Val24495Ile) c.100678G>A (p.Val33560Ile) c.95755G>A (p.Val31919Ile) n.446+12433C>T n.316+241C>T c.99775G>A (p.Val33259Ile) c.73669G>A (p.Val24557Ile) c.73528G>A (p.Val24510Ile) c.99571G>A (p.Val33191Ile) c.94969G>A (p.Val31657Ile) c.94966G>A (p.Val31656Ile) c.92008G>A (p.Val30670Ile) c.73624G>A (p.Val24542Ile) c.95119G>A (p.Val31707Ile) c.95116G>A (p.Val31706Ile) c.94549G>A (p.Val31517Ile) c.91891G>A (p.Val30631Ile) c.91810G>A (p.Val30604Ile) c.73573G>A (p.Val24525Ile) c.63427G>A (p.Val21143Ile) | |
| 2 | g.178536070A>C | CA349425000 | TTN,TTN-AS1 | c.92973T>G (p.Ser30991Arg) c.74058T>G (p.Ser24686Arg) c.73857T>G (p.Ser24619Arg) c.73482T>G (p.Ser24494Arg) c.100677T>G (p.Ser33559Arg) c.95754T>G (p.Ser31918Arg) n.446+12434A>C n.316+242A>C c.99774T>G (p.Ser33258Arg) c.73668T>G (p.Ser24556Arg) c.73527T>G (p.Ser24509Arg) c.99570T>G (p.Ser33190Arg) c.94968T>G (p.Ser31656Arg) c.94965T>G (p.Ser31655Arg) c.92007T>G (p.Ser30669Arg) c.73623T>G (p.Ser24541Arg) c.95118T>G (p.Ser31706Arg) c.95115T>G (p.Ser31705Arg) c.94548T>G (p.Ser31516Arg) c.91890T>G (p.Ser30630Arg) c.91809T>G (p.Ser30603Arg) c.73572T>G (p.Ser24524Arg) c.63426T>G (p.Ser21142Arg) | |
| 2 | g.178536070A>G | CA430238119 | TTN,TTN-AS1 | c.92973T>C (p.Ser30991=) c.74058T>C (p.Ser24686=) c.73857T>C (p.Ser24619=) c.73482T>C (p.Ser24494=) c.100677T>C (p.Ser33559=) c.95754T>C (p.Ser31918=) n.446+12434A>G n.316+242A>G c.99774T>C (p.Ser33258=) c.73668T>C (p.Ser24556=) c.73527T>C (p.Ser24509=) c.99570T>C (p.Ser33190=) c.94968T>C (p.Ser31656=) c.94965T>C (p.Ser31655=) c.92007T>C (p.Ser30669=) c.73623T>C (p.Ser24541=) c.95118T>C (p.Ser31706=) c.95115T>C (p.Ser31705=) c.94548T>C (p.Ser31516=) c.91890T>C (p.Ser30630=) c.91809T>C (p.Ser30603=) c.73572T>C (p.Ser24524=) c.63426T>C (p.Ser21142=) | |
| 2 | g.178536070A>T | CA349425002 | TTN,TTN-AS1 | c.92973T>A (p.Ser30991Arg) c.74058T>A (p.Ser24686Arg) c.73857T>A (p.Ser24619Arg) c.73482T>A (p.Ser24494Arg) c.100677T>A (p.Ser33559Arg) c.95754T>A (p.Ser31918Arg) n.446+12434A>T n.316+242A>T c.99774T>A (p.Ser33258Arg) c.73668T>A (p.Ser24556Arg) c.73527T>A (p.Ser24509Arg) c.99570T>A (p.Ser33190Arg) c.94968T>A (p.Ser31656Arg) c.94965T>A (p.Ser31655Arg) c.92007T>A (p.Ser30669Arg) c.73623T>A (p.Ser24541Arg) c.95118T>A (p.Ser31706Arg) c.95115T>A (p.Ser31705Arg) c.94548T>A (p.Ser31516Arg) c.91890T>A (p.Ser30630Arg) c.91809T>A (p.Ser30603Arg) c.73572T>A (p.Ser24524Arg) c.63426T>A (p.Ser21142Arg) | |
| 2 | g.178536070dup | CA761290742 | TTN,TTN-AS1 | c.92973dup (p.Val30992CysfsTer4) c.74058dup (p.Val24687CysfsTer4) c.73857dup (p.Val24620CysfsTer4) c.73482dup (p.Val24495CysfsTer4) c.100677dup (p.Val33560CysfsTer4) c.95754dup (p.Val31919CysfsTer4) n.446+12434dup n.316+242dup c.99774dup (p.Val33259CysfsTer4) c.73668dup (p.Val24557CysfsTer4) c.73527dup (p.Val24510CysfsTer4) c.99570dup (p.Val33191CysfsTer4) c.94968dup (p.Val31657CysfsTer4) c.94965dup (p.Val31656CysfsTer4) c.92007dup (p.Val30670CysfsTer4) c.73623dup (p.Val24542CysfsTer4) c.95118dup (p.Val31707CysfsTer4) c.95115dup (p.Val31706CysfsTer4) c.94548dup (p.Val31517CysfsTer4) c.91890dup (p.Val30631CysfsTer4) c.91809dup (p.Val30604CysfsTer4) c.73572dup (p.Val24525CysfsTer4) c.63426dup (p.Val21143CysfsTer4) | dbSNP |
| 2 | g.178536071C>A | CA349425003 | TTN,TTN-AS1 | c.92972G>T (p.Ser30991Ile) c.74057G>T (p.Ser24686Ile) c.73856G>T (p.Ser24619Ile) c.73481G>T (p.Ser24494Ile) c.100676G>T (p.Ser33559Ile) c.95753G>T (p.Ser31918Ile) n.446+12435C>A n.316+243C>A c.99773G>T (p.Ser33258Ile) c.73667G>T (p.Ser24556Ile) c.73526G>T (p.Ser24509Ile) c.99569G>T (p.Ser33190Ile) c.94967G>T (p.Ser31656Ile) c.94964G>T (p.Ser31655Ile) c.92006G>T (p.Ser30669Ile) c.73622G>T (p.Ser24541Ile) c.95117G>T (p.Ser31706Ile) c.95114G>T (p.Ser31705Ile) c.94547G>T (p.Ser31516Ile) c.91889G>T (p.Ser30630Ile) c.91808G>T (p.Ser30603Ile) c.73571G>T (p.Ser24524Ile) c.63425G>T (p.Ser21142Ile) | |
| 2 | g.178536071C>G | CA349425004 | TTN,TTN-AS1 | c.92972G>C (p.Ser30991Thr) c.74057G>C (p.Ser24686Thr) c.73856G>C (p.Ser24619Thr) c.73481G>C (p.Ser24494Thr) c.100676G>C (p.Ser33559Thr) c.95753G>C (p.Ser31918Thr) n.446+12435C>G n.316+243C>G c.99773G>C (p.Ser33258Thr) c.73667G>C (p.Ser24556Thr) c.73526G>C (p.Ser24509Thr) c.99569G>C (p.Ser33190Thr) c.94967G>C (p.Ser31656Thr) c.94964G>C (p.Ser31655Thr) c.92006G>C (p.Ser30669Thr) c.73622G>C (p.Ser24541Thr) c.95117G>C (p.Ser31706Thr) c.95114G>C (p.Ser31705Thr) c.94547G>C (p.Ser31516Thr) c.91889G>C (p.Ser30630Thr) c.91808G>C (p.Ser30603Thr) c.73571G>C (p.Ser24524Thr) c.63425G>C (p.Ser21142Thr) | |
| 2 | g.178536071C>T | CA349425006 | TTN,TTN-AS1 | c.92972G>A (p.Ser30991Asn) c.74057G>A (p.Ser24686Asn) c.73856G>A (p.Ser24619Asn) c.73481G>A (p.Ser24494Asn) c.100676G>A (p.Ser33559Asn) c.95753G>A (p.Ser31918Asn) n.446+12435C>T n.316+243C>T c.99773G>A (p.Ser33258Asn) c.73667G>A (p.Ser24556Asn) c.73526G>A (p.Ser24509Asn) c.99569G>A (p.Ser33190Asn) c.94967G>A (p.Ser31656Asn) c.94964G>A (p.Ser31655Asn) c.92006G>A (p.Ser30669Asn) c.73622G>A (p.Ser24541Asn) c.95117G>A (p.Ser31706Asn) c.95114G>A (p.Ser31705Asn) c.94547G>A (p.Ser31516Asn) c.91889G>A (p.Ser30630Asn) c.91808G>A (p.Ser30603Asn) c.73571G>A (p.Ser24524Asn) c.63425G>A (p.Ser21142Asn) | |
| 2 | g.178536071_178536075del | CA645515407 | TTN,TTN-AS1 | c.92968_92972del (p.Ala30990CysfsTer4) c.74053_74057del (p.Ala24685CysfsTer4) c.73852_73856del (p.Ala24618CysfsTer4) c.73477_73481del (p.Ala24493CysfsTer4) c.100672_100676del (p.Ala33558CysfsTer4) c.95749_95753del (p.Ala31917CysfsTer4) n.446+12435_446+12439del n.316+243_316+247del c.99769_99773del (p.Ala33257CysfsTer4) c.73663_73667del (p.Ala24555CysfsTer4) c.73522_73526del (p.Ala24508CysfsTer4) c.99565_99569del (p.Ala33189CysfsTer4) c.94963_94967del (p.Ala31655CysfsTer4) c.94960_94964del (p.Ala31654CysfsTer4) c.92002_92006del (p.Ala30668CysfsTer4) c.73618_73622del (p.Ala24540CysfsTer4) c.95113_95117del (p.Ala31705CysfsTer4) c.95110_95114del (p.Ala31704CysfsTer4) c.94543_94547del (p.Ala31515CysfsTer4) c.91885_91889del (p.Ala30629CysfsTer4) c.91804_91808del (p.Ala30602CysfsTer4) c.73567_73571del (p.Ala24523CysfsTer4) c.63421_63425del (p.Ala21141CysfsTer4) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178536072T>A | CA349425008 | TTN,TTN-AS1 | c.92971A>T (p.Ser30991Cys) c.74056A>T (p.Ser24686Cys) c.73855A>T (p.Ser24619Cys) c.73480A>T (p.Ser24494Cys) c.100675A>T (p.Ser33559Cys) c.95752A>T (p.Ser31918Cys) n.446+12436T>A n.316+244T>A c.99772A>T (p.Ser33258Cys) c.73666A>T (p.Ser24556Cys) c.73525A>T (p.Ser24509Cys) c.99568A>T (p.Ser33190Cys) c.94966A>T (p.Ser31656Cys) c.94963A>T (p.Ser31655Cys) c.92005A>T (p.Ser30669Cys) c.73621A>T (p.Ser24541Cys) c.95116A>T (p.Ser31706Cys) c.95113A>T (p.Ser31705Cys) c.94546A>T (p.Ser31516Cys) c.91888A>T (p.Ser30630Cys) c.91807A>T (p.Ser30603Cys) c.73570A>T (p.Ser24524Cys) c.63424A>T (p.Ser21142Cys) | |
| 2 | g.178536072T>C | CA349425010 | TTN,TTN-AS1 | c.92971A>G (p.Ser30991Gly) c.74056A>G (p.Ser24686Gly) c.73855A>G (p.Ser24619Gly) c.73480A>G (p.Ser24494Gly) c.100675A>G (p.Ser33559Gly) c.95752A>G (p.Ser31918Gly) n.446+12436T>C n.316+244T>C c.99772A>G (p.Ser33258Gly) c.73666A>G (p.Ser24556Gly) c.73525A>G (p.Ser24509Gly) c.99568A>G (p.Ser33190Gly) c.94966A>G (p.Ser31656Gly) c.94963A>G (p.Ser31655Gly) c.92005A>G (p.Ser30669Gly) c.73621A>G (p.Ser24541Gly) c.95116A>G (p.Ser31706Gly) c.95113A>G (p.Ser31705Gly) c.94546A>G (p.Ser31516Gly) c.91888A>G (p.Ser30630Gly) c.91807A>G (p.Ser30603Gly) c.73570A>G (p.Ser24524Gly) c.63424A>G (p.Ser21142Gly) | |
| 2 | g.178536072T>G | CA349425012 | TTN,TTN-AS1 | c.92971A>C (p.Ser30991Arg) c.74056A>C (p.Ser24686Arg) c.73855A>C (p.Ser24619Arg) c.73480A>C (p.Ser24494Arg) c.100675A>C (p.Ser33559Arg) c.95752A>C (p.Ser31918Arg) n.446+12436T>G n.316+244T>G c.99772A>C (p.Ser33258Arg) c.73666A>C (p.Ser24556Arg) c.73525A>C (p.Ser24509Arg) c.99568A>C (p.Ser33190Arg) c.94966A>C (p.Ser31656Arg) c.94963A>C (p.Ser31655Arg) c.92005A>C (p.Ser30669Arg) c.73621A>C (p.Ser24541Arg) c.95116A>C (p.Ser31706Arg) c.95113A>C (p.Ser31705Arg) c.94546A>C (p.Ser31516Arg) c.91888A>C (p.Ser30630Arg) c.91807A>C (p.Ser30603Arg) c.73570A>C (p.Ser24524Arg) c.63424A>C (p.Ser21142Arg) | |
| 2 | g.178536073T>A | CA430238131 | TTN,TTN-AS1 | c.92970A>T (p.Ala30990=) c.74055A>T (p.Ala24685=) c.73854A>T (p.Ala24618=) c.73479A>T (p.Ala24493=) c.100674A>T (p.Ala33558=) c.95751A>T (p.Ala31917=) n.446+12437T>A n.316+245T>A c.99771A>T (p.Ala33257=) c.73665A>T (p.Ala24555=) c.73524A>T (p.Ala24508=) c.99567A>T (p.Ala33189=) c.94965A>T (p.Ala31655=) c.94962A>T (p.Ala31654=) c.92004A>T (p.Ala30668=) c.73620A>T (p.Ala24540=) c.95115A>T (p.Ala31705=) c.95112A>T (p.Ala31704=) c.94545A>T (p.Ala31515=) c.91887A>T (p.Ala30629=) c.91806A>T (p.Ala30602=) c.73569A>T (p.Ala24523=) c.63423A>T (p.Ala21141=) | |
| 2 | g.178536073T>C | CA430238132 | TTN,TTN-AS1 | c.92970A>G (p.Ala30990=) c.74055A>G (p.Ala24685=) c.73854A>G (p.Ala24618=) c.73479A>G (p.Ala24493=) c.100674A>G (p.Ala33558=) c.95751A>G (p.Ala31917=) n.446+12437T>C n.316+245T>C c.99771A>G (p.Ala33257=) c.73665A>G (p.Ala24555=) c.73524A>G (p.Ala24508=) c.99567A>G (p.Ala33189=) c.94965A>G (p.Ala31655=) c.94962A>G (p.Ala31654=) c.92004A>G (p.Ala30668=) c.73620A>G (p.Ala24540=) c.95115A>G (p.Ala31705=) c.95112A>G (p.Ala31704=) c.94545A>G (p.Ala31515=) c.91887A>G (p.Ala30629=) c.91806A>G (p.Ala30602=) c.73569A>G (p.Ala24523=) c.63423A>G (p.Ala21141=) | |
| 2 | g.178536073T>G | CA60960590 | TTN,TTN-AS1 | c.92970A>C (p.Ala30990=) c.74055A>C (p.Ala24685=) c.73854A>C (p.Ala24618=) c.73479A>C (p.Ala24493=) c.100674A>C (p.Ala33558=) c.95751A>C (p.Ala31917=) n.446+12437T>G n.316+245T>G c.99771A>C (p.Ala33257=) c.73665A>C (p.Ala24555=) c.73524A>C (p.Ala24508=) c.99567A>C (p.Ala33189=) c.94965A>C (p.Ala31655=) c.94962A>C (p.Ala31654=) c.92004A>C (p.Ala30668=) c.73620A>C (p.Ala24540=) c.95115A>C (p.Ala31705=) c.95112A>C (p.Ala31704=) c.94545A>C (p.Ala31515=) c.91887A>C (p.Ala30629=) c.91806A>C (p.Ala30602=) c.73569A>C (p.Ala24523=) c.63423A>C (p.Ala21141=) | dbSNP |
| 2 | g.178536073T= | CA1310514552 | TTN,TTN-AS1 | c.92970A= (p.Ala30990=) c.74055A= (p.Ala24685=) c.73854A= (p.Ala24618=) c.73479A= (p.Ala24493=) c.100674A= (p.Ala33558=) c.95751A= (p.Ala31917=) n.446+12437T= n.316+245T= c.99771A= (p.Ala33257=) c.73665A= (p.Ala24555=) c.73524A= (p.Ala24508=) c.99567A= (p.Ala33189=) c.94965A= (p.Ala31655=) c.94962A= (p.Ala31654=) c.92004A= (p.Ala30668=) c.73620A= (p.Ala24540=) c.95115A= (p.Ala31705=) c.95112A= (p.Ala31704=) c.94545A= (p.Ala31515=) c.91887A= (p.Ala30629=) c.91806A= (p.Ala30602=) c.73569A= (p.Ala24523=) c.63423A= (p.Ala21141=) | |
| 2 | g.178536074G>A | CA349425015 | TTN,TTN-AS1 | c.92969C>T (p.Ala30990Val) c.74054C>T (p.Ala24685Val) c.73853C>T (p.Ala24618Val) c.73478C>T (p.Ala24493Val) c.100673C>T (p.Ala33558Val) c.95750C>T (p.Ala31917Val) n.446+12438G>A n.316+246G>A c.99770C>T (p.Ala33257Val) c.73664C>T (p.Ala24555Val) c.73523C>T (p.Ala24508Val) c.99566C>T (p.Ala33189Val) c.94964C>T (p.Ala31655Val) c.94961C>T (p.Ala31654Val) c.92003C>T (p.Ala30668Val) c.73619C>T (p.Ala24540Val) c.95114C>T (p.Ala31705Val) c.95111C>T (p.Ala31704Val) c.94544C>T (p.Ala31515Val) c.91886C>T (p.Ala30629Val) c.91805C>T (p.Ala30602Val) c.73568C>T (p.Ala24523Val) c.63422C>T (p.Ala21141Val) | dbSNP |
| 2 | g.178536074G>C | CA349425017 | TTN,TTN-AS1 | c.92969C>G (p.Ala30990Gly) c.74054C>G (p.Ala24685Gly) c.73853C>G (p.Ala24618Gly) c.73478C>G (p.Ala24493Gly) c.100673C>G (p.Ala33558Gly) c.95750C>G (p.Ala31917Gly) n.446+12438G>C n.316+246G>C c.99770C>G (p.Ala33257Gly) c.73664C>G (p.Ala24555Gly) c.73523C>G (p.Ala24508Gly) c.99566C>G (p.Ala33189Gly) c.94964C>G (p.Ala31655Gly) c.94961C>G (p.Ala31654Gly) c.92003C>G (p.Ala30668Gly) c.73619C>G (p.Ala24540Gly) c.95114C>G (p.Ala31705Gly) c.95111C>G (p.Ala31704Gly) c.94544C>G (p.Ala31515Gly) c.91886C>G (p.Ala30629Gly) c.91805C>G (p.Ala30602Gly) c.73568C>G (p.Ala24523Gly) c.63422C>G (p.Ala21141Gly) |