| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178776124C>A | CA349448119 | TTN | c.5740G>T (p.Ala1914Ser) c.5602G>T (p.Ala1868Ser) c.5788G>T (p.Ala1930Ser) c.5647G>T (p.Ala1883Ser) c.5785G>T (p.Ala1929Ser) c.5743G>T (p.Ala1915Ser) | |
| 2 | g.178776124C= | CA1310617510 | TTN | c.5740G= (p.Ala1914=) c.5602G= (p.Ala1868=) c.5788G= (p.Ala1930=) c.5647G= (p.Ala1883=) c.5785G= (p.Ala1929=) c.5743G= (p.Ala1915=) | |
| 2 | g.178776124C>G | CA349448117 | TTN | c.5740G>C (p.Ala1914Pro) c.5602G>C (p.Ala1868Pro) c.5788G>C (p.Ala1930Pro) c.5647G>C (p.Ala1883Pro) c.5785G>C (p.Ala1929Pro) c.5743G>C (p.Ala1915Pro) | |
| 2 | g.178776124C>T | CA2005144 | TTN | c.5740G>A (p.Ala1914Thr) c.5602G>A (p.Ala1868Thr) c.5788G>A (p.Ala1930Thr) c.5647G>A (p.Ala1883Thr) c.5785G>A (p.Ala1929Thr) c.5743G>A (p.Ala1915Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178776125G>A | CA10605295 | TTN | c.5739C>T (p.Thr1913=) c.5601C>T (p.Thr1867=) c.5787C>T (p.Thr1929=) c.5646C>T (p.Thr1882=) c.5784C>T (p.Thr1928=) c.5742C>T (p.Thr1914=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178776125G>C | CA430280442 | TTN | c.5739C>G (p.Thr1913=) c.5601C>G (p.Thr1867=) c.5787C>G (p.Thr1929=) c.5646C>G (p.Thr1882=) c.5784C>G (p.Thr1928=) c.5742C>G (p.Thr1914=) | |
| 2 | g.178776125G= | CA1310617511 | TTN | c.5739C= (p.Thr1913=) c.5601C= (p.Thr1867=) c.5787C= (p.Thr1929=) c.5646C= (p.Thr1882=) c.5784C= (p.Thr1928=) c.5742C= (p.Thr1914=) | |
| 2 | g.178776125G>T | CA60977574 | TTN | c.5739C>A (p.Thr1913=) c.5601C>A (p.Thr1867=) c.5787C>A (p.Thr1929=) c.5646C>A (p.Thr1882=) c.5784C>A (p.Thr1928=) c.5742C>A (p.Thr1914=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178776126G>A | CA349448152 | TTN | c.5738C>T (p.Thr1913Ile) c.5600C>T (p.Thr1867Ile) c.5786C>T (p.Thr1929Ile) c.5645C>T (p.Thr1882Ile) c.5783C>T (p.Thr1928Ile) c.5741C>T (p.Thr1914Ile) | gnomAD v4 |
| 2 | g.178776126G>C | CA349448158 | TTN | c.5738C>G (p.Thr1913Ser) c.5600C>G (p.Thr1867Ser) c.5786C>G (p.Thr1929Ser) c.5645C>G (p.Thr1882Ser) c.5783C>G (p.Thr1928Ser) c.5741C>G (p.Thr1914Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178776126G= | CA1310617512 | TTN | c.5738C= (p.Thr1913=) c.5600C= (p.Thr1867=) c.5786C= (p.Thr1929=) c.5645C= (p.Thr1882=) c.5783C= (p.Thr1928=) c.5741C= (p.Thr1914=) | |
| 2 | g.178776126G>T | CA349448163 | TTN | c.5738C>A (p.Thr1913Asn) c.5600C>A (p.Thr1867Asn) c.5786C>A (p.Thr1929Asn) c.5645C>A (p.Thr1882Asn) c.5783C>A (p.Thr1928Asn) c.5741C>A (p.Thr1914Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178776127T>A | CA349448171 | TTN | c.5737A>T (p.Thr1913Ser) c.5599A>T (p.Thr1867Ser) c.5785A>T (p.Thr1929Ser) c.5644A>T (p.Thr1882Ser) c.5782A>T (p.Thr1928Ser) c.5740A>T (p.Thr1914Ser) | |
| 2 | g.178776127T>C | CA349448177 | TTN | c.5737A>G (p.Thr1913Ala) c.5599A>G (p.Thr1867Ala) c.5785A>G (p.Thr1929Ala) c.5644A>G (p.Thr1882Ala) c.5782A>G (p.Thr1928Ala) c.5740A>G (p.Thr1914Ala) | |
| 2 | g.178776127T>G | CA349448186 | TTN | c.5737A>C (p.Thr1913Pro) c.5599A>C (p.Thr1867Pro) c.5785A>C (p.Thr1929Pro) c.5644A>C (p.Thr1882Pro) c.5782A>C (p.Thr1928Pro) c.5740A>C (p.Thr1914Pro) | |
| 2 | g.178776128G>A | CA430280451 | TTN | c.5736C>T (p.Val1912=) c.5598C>T (p.Val1866=) c.5784C>T (p.Val1928=) c.5643C>T (p.Val1881=) c.5781C>T (p.Val1927=) c.5739C>T (p.Val1913=) | gnomAD v4 |
| 2 | g.178776128G>C | CA430280452 | TTN | c.5736C>G (p.Val1912=) c.5598C>G (p.Val1866=) c.5784C>G (p.Val1928=) c.5643C>G (p.Val1881=) c.5781C>G (p.Val1927=) c.5739C>G (p.Val1913=) | |
| 2 | g.178776128G>T | CA430280453 | TTN | c.5736C>A (p.Val1912=) c.5598C>A (p.Val1866=) c.5784C>A (p.Val1928=) c.5643C>A (p.Val1881=) c.5781C>A (p.Val1927=) c.5739C>A (p.Val1913=) | |
| 2 | g.178776129A>C | CA349448195 | TTN | c.5735T>G (p.Val1912Gly) c.5597T>G (p.Val1866Gly) c.5783T>G (p.Val1928Gly) c.5642T>G (p.Val1881Gly) c.5780T>G (p.Val1927Gly) c.5738T>G (p.Val1913Gly) | |
| 2 | g.178776129A>G | CA349448196 | TTN | c.5735T>C (p.Val1912Ala) c.5597T>C (p.Val1866Ala) c.5783T>C (p.Val1928Ala) c.5642T>C (p.Val1881Ala) c.5780T>C (p.Val1927Ala) c.5738T>C (p.Val1913Ala) | |
| 2 | g.178776129A>T | CA349448197 | TTN | c.5735T>A (p.Val1912Asp) c.5597T>A (p.Val1866Asp) c.5783T>A (p.Val1928Asp) c.5642T>A (p.Val1881Asp) c.5780T>A (p.Val1927Asp) c.5738T>A (p.Val1913Asp) | |
| 2 | g.178776130C>A | CA349448203 | TTN | c.5734G>T (p.Val1912Phe) c.5596G>T (p.Val1866Phe) c.5782G>T (p.Val1928Phe) c.5641G>T (p.Val1881Phe) c.5779G>T (p.Val1927Phe) c.5737G>T (p.Val1913Phe) | |
| 2 | g.178776130C>G | CA349448199 | TTN | c.5734G>C (p.Val1912Leu) c.5596G>C (p.Val1866Leu) c.5782G>C (p.Val1928Leu) c.5641G>C (p.Val1881Leu) c.5779G>C (p.Val1927Leu) c.5737G>C (p.Val1913Leu) | |
| 2 | g.178776130C>T | CA349448198 | TTN | c.5734G>A (p.Val1912Ile) c.5596G>A (p.Val1866Ile) c.5782G>A (p.Val1928Ile) c.5641G>A (p.Val1881Ile) c.5779G>A (p.Val1927Ile) c.5737G>A (p.Val1913Ile) | |
| 2 | g.178776131C>A | CA349448219 | TTN | c.5733G>T (p.Lys1911Asn) c.5595G>T (p.Lys1865Asn) c.5781G>T (p.Lys1927Asn) c.5640G>T (p.Lys1880Asn) c.5778G>T (p.Lys1926Asn) c.5736G>T (p.Lys1912Asn) | |
| 2 | g.178776131C>G | CA349448228 | TTN | c.5733G>C (p.Lys1911Asn) c.5595G>C (p.Lys1865Asn) c.5781G>C (p.Lys1927Asn) c.5640G>C (p.Lys1880Asn) c.5778G>C (p.Lys1926Asn) c.5736G>C (p.Lys1912Asn) | |
| 2 | g.178776131C>T | CA430280457 | TTN | c.5733G>A (p.Lys1911=) c.5595G>A (p.Lys1865=) c.5781G>A (p.Lys1927=) c.5640G>A (p.Lys1880=) c.5778G>A (p.Lys1926=) c.5736G>A (p.Lys1912=) | ClinVar |
| 2 | g.178776132T>A | CA349448233 | TTN | c.5732A>T (p.Lys1911Met) c.5594A>T (p.Lys1865Met) c.5780A>T (p.Lys1927Met) c.5639A>T (p.Lys1880Met) c.5777A>T (p.Lys1926Met) c.5735A>T (p.Lys1912Met) | |
| 2 | g.178776132T>C | CA349448261 | TTN | c.5732A>G (p.Lys1911Arg) c.5594A>G (p.Lys1865Arg) c.5780A>G (p.Lys1927Arg) c.5639A>G (p.Lys1880Arg) c.5777A>G (p.Lys1926Arg) c.5735A>G (p.Lys1912Arg) | |
| 2 | g.178776132T>G | CA349448267 | TTN | c.5732A>C (p.Lys1911Thr) c.5594A>C (p.Lys1865Thr) c.5780A>C (p.Lys1927Thr) c.5639A>C (p.Lys1880Thr) c.5777A>C (p.Lys1926Thr) c.5735A>C (p.Lys1912Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178776132T= | CA1310617513 | TTN | c.5732A= (p.Lys1911=) c.5594A= (p.Lys1865=) c.5780A= (p.Lys1927=) c.5639A= (p.Lys1880=) c.5777A= (p.Lys1926=) c.5735A= (p.Lys1912=) | |
| 2 | g.178776133T>A | CA349448284 | TTN | c.5731A>T (p.Lys1911Ter) c.5593A>T (p.Lys1865Ter) c.5779A>T (p.Lys1927Ter) c.5638A>T (p.Lys1880Ter) c.5776A>T (p.Lys1926Ter) c.5734A>T (p.Lys1912Ter) | |
| 2 | g.178776133T>C | CA349448285 | TTN | c.5731A>G (p.Lys1911Glu) c.5593A>G (p.Lys1865Glu) c.5779A>G (p.Lys1927Glu) c.5638A>G (p.Lys1880Glu) c.5776A>G (p.Lys1926Glu) c.5734A>G (p.Lys1912Glu) | |
| 2 | g.178776133T>G | CA349448290 | TTN | c.5731A>C (p.Lys1911Gln) c.5593A>C (p.Lys1865Gln) c.5779A>C (p.Lys1927Gln) c.5638A>C (p.Lys1880Gln) c.5776A>C (p.Lys1926Gln) c.5734A>C (p.Lys1912Gln) | |
| 2 | g.178776134C>A | CA430280460 | TTN | c.5730G>T (p.Val1910=) c.5592G>T (p.Val1864=) c.5778G>T (p.Val1926=) c.5637G>T (p.Val1879=) c.5775G>T (p.Val1925=) c.5733G>T (p.Val1911=) | |
| 2 | g.178776134C>G | CA430280461 | TTN | c.5730G>C (p.Val1910=) c.5592G>C (p.Val1864=) c.5778G>C (p.Val1926=) c.5637G>C (p.Val1879=) c.5775G>C (p.Val1925=) c.5733G>C (p.Val1911=) | |
| 2 | g.178776134C>T | CA430280462 | TTN | c.5730G>A (p.Val1910=) c.5592G>A (p.Val1864=) c.5778G>A (p.Val1926=) c.5637G>A (p.Val1879=) c.5775G>A (p.Val1925=) c.5733G>A (p.Val1911=) | |
| 2 | g.178776135A= | CA1310617514 | TTN | c.5729T= (p.Val1910=) c.5591T= (p.Val1864=) c.5777T= (p.Val1926=) c.5636T= (p.Val1879=) c.5774T= (p.Val1925=) c.5732T= (p.Val1911=) | |
| 2 | g.178776135A>C | CA349448291 | TTN | c.5729T>G (p.Val1910Gly) c.5591T>G (p.Val1864Gly) c.5777T>G (p.Val1926Gly) c.5636T>G (p.Val1879Gly) c.5774T>G (p.Val1925Gly) c.5732T>G (p.Val1911Gly) | |
| 2 | g.178776135A>G | CA349448292 | TTN | c.5729T>C (p.Val1910Ala) c.5591T>C (p.Val1864Ala) c.5777T>C (p.Val1926Ala) c.5636T>C (p.Val1879Ala) c.5774T>C (p.Val1925Ala) c.5732T>C (p.Val1911Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178776135A>T | CA349448293 | TTN | c.5729T>A (p.Val1910Glu) c.5591T>A (p.Val1864Glu) c.5777T>A (p.Val1926Glu) c.5636T>A (p.Val1879Glu) c.5774T>A (p.Val1925Glu) c.5732T>A (p.Val1911Glu) | gnomAD v4 |
| 2 | g.178776136C>A | CA349448298 | TTN | c.5728G>T (p.Val1910Leu) c.5590G>T (p.Val1864Leu) c.5776G>T (p.Val1926Leu) c.5635G>T (p.Val1879Leu) c.5773G>T (p.Val1925Leu) c.5731G>T (p.Val1911Leu) | |
| 2 | g.178776136C= | CA1310617515 | TTN | c.5728G= (p.Val1910=) c.5590G= (p.Val1864=) c.5776G= (p.Val1926=) c.5635G= (p.Val1879=) c.5773G= (p.Val1925=) c.5731G= (p.Val1911=) | |
| 2 | g.178776136C>G | CA349448301 | TTN | c.5728G>C (p.Val1910Leu) c.5590G>C (p.Val1864Leu) c.5776G>C (p.Val1926Leu) c.5635G>C (p.Val1879Leu) c.5773G>C (p.Val1925Leu) c.5731G>C (p.Val1911Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178776136C>T | CA2005145 | TTN | c.5728G>A (p.Val1910Met) c.5590G>A (p.Val1864Met) c.5776G>A (p.Val1926Met) c.5635G>A (p.Val1879Met) c.5773G>A (p.Val1925Met) c.5731G>A (p.Val1911Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178776137T>A | CA349448311 | TTN | c.5727A>T (p.Glu1909Asp) c.5589A>T (p.Glu1863Asp) c.5775A>T (p.Glu1925Asp) c.5634A>T (p.Glu1878Asp) c.5772A>T (p.Glu1924Asp) c.5730A>T (p.Glu1910Asp) | |
| 2 | g.178776137T>C | CA430280468 | TTN | c.5727A>G (p.Glu1909=) c.5589A>G (p.Glu1863=) c.5775A>G (p.Glu1925=) c.5634A>G (p.Glu1878=) c.5772A>G (p.Glu1924=) c.5730A>G (p.Glu1910=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178776137T>G | CA349448306 | TTN | c.5727A>C (p.Glu1909Asp) c.5589A>C (p.Glu1863Asp) c.5775A>C (p.Glu1925Asp) c.5634A>C (p.Glu1878Asp) c.5772A>C (p.Glu1924Asp) c.5730A>C (p.Glu1910Asp) | |
| 2 | g.178776137T= | CA1310617516 | TTN | c.5727A= (p.Glu1909=) c.5589A= (p.Glu1863=) c.5775A= (p.Glu1925=) c.5634A= (p.Glu1878=) c.5772A= (p.Glu1924=) c.5730A= (p.Glu1910=) | |
| 2 | g.178776138T>A | CA349448318 | TTN | c.5726A>T (p.Glu1909Val) c.5588A>T (p.Glu1863Val) c.5774A>T (p.Glu1925Val) c.5633A>T (p.Glu1878Val) c.5771A>T (p.Glu1924Val) c.5729A>T (p.Glu1910Val) |