| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178785890A>C | CA349499817 | TTN | c.2328T>G (p.His776Gln) c.2190T>G (p.His730Gln) c.2376T>G (p.His792Gln) c.2235T>G (p.His745Gln) c.2373T>G (p.His791Gln) c.2331T>G (p.His777Gln) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178785890A>G | CA430282724 | TTN | c.2328T>C (p.His776=) c.2190T>C (p.His730=) c.2376T>C (p.His792=) c.2235T>C (p.His745=) c.2373T>C (p.His791=) c.2331T>C (p.His777=) | |
| 2 | g.178785890A>T | CA349499821 | TTN | c.2328T>A (p.His776Gln) c.2190T>A (p.His730Gln) c.2376T>A (p.His792Gln) c.2235T>A (p.His745Gln) c.2373T>A (p.His791Gln) c.2331T>A (p.His777Gln) | |
| 2 | g.178785891T>A | CA349499853 | TTN | c.2327A>T (p.His776Leu) c.2189A>T (p.His730Leu) c.2375A>T (p.His792Leu) c.2234A>T (p.His745Leu) c.2372A>T (p.His791Leu) c.2330A>T (p.His777Leu) | |
| 2 | g.178785891T>C | CA349499859 | TTN | c.2327A>G (p.His776Arg) c.2189A>G (p.His730Arg) c.2375A>G (p.His792Arg) c.2234A>G (p.His745Arg) c.2372A>G (p.His791Arg) c.2330A>G (p.His777Arg) | gnomAD v4 |
| 2 | g.178785891T>G | CA349499861 | TTN | c.2327A>C (p.His776Pro) c.2189A>C (p.His730Pro) c.2375A>C (p.His792Pro) c.2234A>C (p.His745Pro) c.2372A>C (p.His791Pro) c.2330A>C (p.His777Pro) | gnomAD v4 |
| 2 | g.178785892G>A | CA349499868 | TTN | c.2326C>T (p.His776Tyr) c.2188C>T (p.His730Tyr) c.2374C>T (p.His792Tyr) c.2233C>T (p.His745Tyr) c.2371C>T (p.His791Tyr) c.2329C>T (p.His777Tyr) | |
| 2 | g.178785892G>C | CA349499864 | TTN | c.2326C>G (p.His776Asp) c.2188C>G (p.His730Asp) c.2374C>G (p.His792Asp) c.2233C>G (p.His745Asp) c.2371C>G (p.His791Asp) c.2329C>G (p.His777Asp) | |
| 2 | g.178785892G>T | CA349499867 | TTN | c.2326C>A (p.His776Asn) c.2188C>A (p.His730Asn) c.2374C>A (p.His792Asn) c.2233C>A (p.His745Asn) c.2371C>A (p.His791Asn) c.2329C>A (p.His777Asn) | |
| 2 | g.178785893A= | CA1310621625 | TTN | c.2325T= (p.Thr775=) c.2187T= (p.Thr729=) c.2373T= (p.Thr791=) c.2232T= (p.Thr744=) c.2370T= (p.Thr790=) c.2328T= (p.Thr776=) | |
| 2 | g.178785893A>C | CA430282729 | TTN | c.2325T>G (p.Thr775=) c.2187T>G (p.Thr729=) c.2373T>G (p.Thr791=) c.2232T>G (p.Thr744=) c.2370T>G (p.Thr790=) c.2328T>G (p.Thr776=) | |
| 2 | g.178785893A>G | CA2005854 | TTN | c.2325T>C (p.Thr775=) c.2187T>C (p.Thr729=) c.2373T>C (p.Thr791=) c.2232T>C (p.Thr744=) c.2370T>C (p.Thr790=) c.2328T>C (p.Thr776=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178785893A>T | CA430282728 | TTN | c.2325T>A (p.Thr775=) c.2187T>A (p.Thr729=) c.2373T>A (p.Thr791=) c.2232T>A (p.Thr744=) c.2370T>A (p.Thr790=) c.2328T>A (p.Thr776=) | |
| 2 | g.178785894G>A | CA2005856 | TTN | c.2324C>T (p.Thr775Ile) c.2186C>T (p.Thr729Ile) c.2372C>T (p.Thr791Ile) c.2231C>T (p.Thr744Ile) c.2369C>T (p.Thr790Ile) c.2327C>T (p.Thr776Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178785894G>C | CA349499899 | TTN | c.2324C>G (p.Thr775Ser) c.2186C>G (p.Thr729Ser) c.2372C>G (p.Thr791Ser) c.2231C>G (p.Thr744Ser) c.2369C>G (p.Thr790Ser) c.2327C>G (p.Thr776Ser) | |
| 2 | g.178785894G= | CA1310621626 | TTN | c.2324C= (p.Thr775=) c.2186C= (p.Thr729=) c.2372C= (p.Thr791=) c.2231C= (p.Thr744=) c.2369C= (p.Thr790=) c.2327C= (p.Thr776=) | |
| 2 | g.178785894G>T | CA2005855 | TTN | c.2324C>A (p.Thr775Asn) c.2186C>A (p.Thr729Asn) c.2372C>A (p.Thr791Asn) c.2231C>A (p.Thr744Asn) c.2369C>A (p.Thr790Asn) c.2327C>A (p.Thr776Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178785895T>A | CA349499917 | TTN | c.2323A>T (p.Thr775Ser) c.2185A>T (p.Thr729Ser) c.2371A>T (p.Thr791Ser) c.2230A>T (p.Thr744Ser) c.2368A>T (p.Thr790Ser) c.2326A>T (p.Thr776Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178785895T>C | CA349499926 | TTN | c.2323A>G (p.Thr775Ala) c.2185A>G (p.Thr729Ala) c.2371A>G (p.Thr791Ala) c.2230A>G (p.Thr744Ala) c.2368A>G (p.Thr790Ala) c.2326A>G (p.Thr776Ala) | |
| 2 | g.178785895T>G | CA349499927 | TTN | c.2323A>C (p.Thr775Pro) c.2185A>C (p.Thr729Pro) c.2371A>C (p.Thr791Pro) c.2230A>C (p.Thr744Pro) c.2368A>C (p.Thr790Pro) c.2326A>C (p.Thr776Pro) | |
| 2 | g.178785895T= | CA1310621627 | TTN | c.2323A= (p.Thr775=) c.2185A= (p.Thr729=) c.2371A= (p.Thr791=) c.2230A= (p.Thr744=) c.2368A= (p.Thr790=) c.2326A= (p.Thr776=) | |
| 2 | g.178785896C>A | CA349499928 | TTN | c.2322G>T (p.Glu774Asp) c.2184G>T (p.Glu728Asp) c.2370G>T (p.Glu790Asp) c.2229G>T (p.Glu743Asp) c.2367G>T (p.Glu789Asp) c.2325G>T (p.Glu775Asp) | |
| 2 | g.178785896C= | CA1310621628 | TTN | c.2322G= (p.Glu774=) c.2184G= (p.Glu728=) c.2370G= (p.Glu790=) c.2229G= (p.Glu743=) c.2367G= (p.Glu789=) c.2325G= (p.Glu775=) | |
| 2 | g.178785896C>G | CA349499930 | TTN | c.2322G>C (p.Glu774Asp) c.2184G>C (p.Glu728Asp) c.2370G>C (p.Glu790Asp) c.2229G>C (p.Glu743Asp) c.2367G>C (p.Glu789Asp) c.2325G>C (p.Glu775Asp) | |
| 2 | g.178785896C>T | CA2005857 | TTN | c.2322G>A (p.Glu774=) c.2184G>A (p.Glu728=) c.2370G>A (p.Glu790=) c.2229G>A (p.Glu743=) c.2367G>A (p.Glu789=) c.2325G>A (p.Glu775=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178785897T>A | CA349499945 | TTN | c.2321A>T (p.Glu774Val) c.2183A>T (p.Glu728Val) c.2369A>T (p.Glu790Val) c.2228A>T (p.Glu743Val) c.2366A>T (p.Glu789Val) c.2324A>T (p.Glu775Val) | |
| 2 | g.178785897T>C | CA349499965 | TTN | c.2321A>G (p.Glu774Gly) c.2183A>G (p.Glu728Gly) c.2369A>G (p.Glu790Gly) c.2228A>G (p.Glu743Gly) c.2366A>G (p.Glu789Gly) c.2324A>G (p.Glu775Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178785897T>G | CA349499968 | TTN | c.2321A>C (p.Glu774Ala) c.2183A>C (p.Glu728Ala) c.2369A>C (p.Glu790Ala) c.2228A>C (p.Glu743Ala) c.2366A>C (p.Glu789Ala) c.2324A>C (p.Glu775Ala) | |
| 2 | g.178785897T= | CA1310621629 | TTN | c.2321A= (p.Glu774=) c.2183A= (p.Glu728=) c.2369A= (p.Glu790=) c.2228A= (p.Glu743=) c.2366A= (p.Glu789=) c.2324A= (p.Glu775=) | |
| 2 | g.178785898C>A | CA349499972 | TTN | c.2320G>T (p.Glu774Ter) c.2182G>T (p.Glu728Ter) c.2368G>T (p.Glu790Ter) c.2227G>T (p.Glu743Ter) c.2365G>T (p.Glu789Ter) c.2323G>T (p.Glu775Ter) | |
| 2 | g.178785898C= | CA1310621631 | TTN | c.2320G= (p.Glu774=) c.2182G= (p.Glu728=) c.2368G= (p.Glu790=) c.2227G= (p.Glu743=) c.2365G= (p.Glu789=) c.2323G= (p.Glu775=) | |
| 2 | g.178785898C>G | CA349499980 | TTN | c.2320G>C (p.Glu774Gln) c.2182G>C (p.Glu728Gln) c.2368G>C (p.Glu790Gln) c.2227G>C (p.Glu743Gln) c.2365G>C (p.Glu789Gln) c.2323G>C (p.Glu775Gln) | |
| 2 | g.178785898C>T | CA349499977 | TTN | c.2320G>A (p.Glu774Lys) c.2182G>A (p.Glu728Lys) c.2368G>A (p.Glu790Lys) c.2227G>A (p.Glu743Lys) c.2365G>A (p.Glu789Lys) c.2323G>A (p.Glu775Lys) | ClinVar dbSNP |
| 2 | g.178785898_178785901delinsCAGA | CA1310621630 | TTN | c.2317_2320delinsTCTG (p.Ser773=) c.2179_2182delinsTCTG (p.Ser727=) c.2365_2368delinsTCTG (p.Ser789=) c.2224_2227delinsTCTG (p.Ser742=) c.2362_2365delinsTCTG (p.Ser788=) c.2320_2323delinsTCTG (p.Ser774=) | |
| 2 | g.178785899A>C | CA430282733 | TTN | c.2319T>G (p.Ser773=) c.2181T>G (p.Ser727=) c.2367T>G (p.Ser789=) c.2226T>G (p.Ser742=) c.2364T>G (p.Ser788=) c.2322T>G (p.Ser774=) | |
| 2 | g.178785899A>G | CA430282734 | TTN | c.2319T>C (p.Ser773=) c.2181T>C (p.Ser727=) c.2367T>C (p.Ser789=) c.2226T>C (p.Ser742=) c.2364T>C (p.Ser788=) c.2322T>C (p.Ser774=) | |
| 2 | g.178785899A>T | CA430282735 | TTN | c.2319T>A (p.Ser773=) c.2181T>A (p.Ser727=) c.2367T>A (p.Ser789=) c.2226T>A (p.Ser742=) c.2364T>A (p.Ser788=) c.2322T>A (p.Ser774=) | |
| 2 | g.178785901_178785903del | CA2005858 | TTN | c.2317_2319del (p.Ser773del) c.2179_2181del (p.Ser727del) c.2365_2367del (p.Ser789del) c.2224_2226del (p.Ser742del) c.2362_2364del (p.Ser788del) c.2320_2322del (p.Ser774del) | dbSNP ExAC gnomAD v2 |
| 2 | g.178785900G>A | CA2005859 | TTN | c.2318C>T (p.Ser773Phe) c.2180C>T (p.Ser727Phe) c.2366C>T (p.Ser789Phe) c.2225C>T (p.Ser742Phe) c.2363C>T (p.Ser788Phe) c.2321C>T (p.Ser774Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178785900G>C | CA349499991 | TTN | c.2318C>G (p.Ser773Cys) c.2180C>G (p.Ser727Cys) c.2366C>G (p.Ser789Cys) c.2225C>G (p.Ser742Cys) c.2363C>G (p.Ser788Cys) c.2321C>G (p.Ser774Cys) | |
| 2 | g.178785900G= | CA1310621632 | TTN | c.2318C= (p.Ser773=) c.2180C= (p.Ser727=) c.2366C= (p.Ser789=) c.2225C= (p.Ser742=) c.2363C= (p.Ser788=) c.2321C= (p.Ser774=) | |
| 2 | g.178785900G>T | CA349499992 | TTN | c.2318C>A (p.Ser773Tyr) c.2180C>A (p.Ser727Tyr) c.2366C>A (p.Ser789Tyr) c.2225C>A (p.Ser742Tyr) c.2363C>A (p.Ser788Tyr) c.2321C>A (p.Ser774Tyr) | |
| 2 | g.178785901A= | CA1310621633 | TTN | c.2317T= (p.Ser773=) c.2179T= (p.Ser727=) c.2365T= (p.Ser789=) c.2224T= (p.Ser742=) c.2362T= (p.Ser788=) c.2320T= (p.Ser774=) | |
| 2 | g.178785901A>C | CA349499995 | TTN | c.2317T>G (p.Ser773Ala) c.2179T>G (p.Ser727Ala) c.2365T>G (p.Ser789Ala) c.2224T>G (p.Ser742Ala) c.2362T>G (p.Ser788Ala) c.2320T>G (p.Ser774Ala) | |
| 2 | g.178785901A>G | CA349499997 | TTN | c.2317T>C (p.Ser773Pro) c.2179T>C (p.Ser727Pro) c.2365T>C (p.Ser789Pro) c.2224T>C (p.Ser742Pro) c.2362T>C (p.Ser788Pro) c.2320T>C (p.Ser774Pro) | dbSNP gnomAD v4 |
| 2 | g.178785901A>T | CA349500008 | TTN | c.2317T>A (p.Ser773Thr) c.2179T>A (p.Ser727Thr) c.2365T>A (p.Ser789Thr) c.2224T>A (p.Ser742Thr) c.2362T>A (p.Ser788Thr) c.2320T>A (p.Ser774Thr) | |
| 2 | g.178785902A>C | CA430282738 | TTN | c.2316T>G (p.Pro772=) c.2178T>G (p.Pro726=) c.2364T>G (p.Pro788=) c.2223T>G (p.Pro741=) c.2361T>G (p.Pro787=) c.2319T>G (p.Pro773=) | |
| 2 | g.178785902A>G | CA430282736 | TTN | c.2316T>C (p.Pro772=) c.2178T>C (p.Pro726=) c.2364T>C (p.Pro788=) c.2223T>C (p.Pro741=) c.2361T>C (p.Pro787=) c.2319T>C (p.Pro773=) | |
| 2 | g.178785902A>T | CA430282737 | TTN | c.2316T>A (p.Pro772=) c.2178T>A (p.Pro726=) c.2364T>A (p.Pro788=) c.2223T>A (p.Pro741=) c.2361T>A (p.Pro787=) c.2319T>A (p.Pro773=) | |
| 2 | g.178785903G>A | CA349500011 | TTN | c.2315C>T (p.Pro772Leu) c.2177C>T (p.Pro726Leu) c.2363C>T (p.Pro788Leu) c.2222C>T (p.Pro741Leu) c.2360C>T (p.Pro787Leu) c.2318C>T (p.Pro773Leu) |