| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178776024G>A | CA349446367 | TTN | c.5840C>T (p.Pro1947Leu) c.5702C>T (p.Pro1901Leu) c.5888C>T (p.Pro1963Leu) c.5747C>T (p.Pro1916Leu) c.5885C>T (p.Pro1962Leu) c.5843C>T (p.Pro1948Leu) | |
| 2 | g.178776024G>C | CA349446368 | TTN | c.5840C>G (p.Pro1947Arg) c.5702C>G (p.Pro1901Arg) c.5888C>G (p.Pro1963Arg) c.5747C>G (p.Pro1916Arg) c.5885C>G (p.Pro1962Arg) c.5843C>G (p.Pro1948Arg) | |
| 2 | g.178776024G>T | CA349446369 | TTN | c.5840C>A (p.Pro1947His) c.5702C>A (p.Pro1901His) c.5888C>A (p.Pro1963His) c.5747C>A (p.Pro1916His) c.5885C>A (p.Pro1962His) c.5843C>A (p.Pro1948His) | |
| 2 | g.178776025G>A | CA349446371 | TTN | c.5839C>T (p.Pro1947Ser) c.5701C>T (p.Pro1901Ser) c.5887C>T (p.Pro1963Ser) c.5746C>T (p.Pro1916Ser) c.5884C>T (p.Pro1962Ser) c.5842C>T (p.Pro1948Ser) | |
| 2 | g.178776025G>C | CA349446372 | TTN | c.5839C>G (p.Pro1947Ala) c.5701C>G (p.Pro1901Ala) c.5887C>G (p.Pro1963Ala) c.5746C>G (p.Pro1916Ala) c.5884C>G (p.Pro1962Ala) c.5842C>G (p.Pro1948Ala) | |
| 2 | g.178776025G>T | CA349446375 | TTN | c.5839C>A (p.Pro1947Thr) c.5701C>A (p.Pro1901Thr) c.5887C>A (p.Pro1963Thr) c.5746C>A (p.Pro1916Thr) c.5884C>A (p.Pro1962Thr) c.5842C>A (p.Pro1948Thr) | |
| 2 | g.178776026C>A | CA349446383 | TTN | c.5838G>T (p.Arg1946Ser) c.5700G>T (p.Arg1900Ser) c.5886G>T (p.Arg1962Ser) c.5745G>T (p.Arg1915Ser) c.5883G>T (p.Arg1961Ser) c.5841G>T (p.Arg1947Ser) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178776026C= | CA1310617477 | TTN | c.5838G= (p.Arg1946=) c.5700G= (p.Arg1900=) c.5886G= (p.Arg1962=) c.5745G= (p.Arg1915=) c.5883G= (p.Arg1961=) c.5841G= (p.Arg1947=) | |
| 2 | g.178776026C>G | CA349446397 | TTN | c.5838G>C (p.Arg1946Ser) c.5700G>C (p.Arg1900Ser) c.5886G>C (p.Arg1962Ser) c.5745G>C (p.Arg1915Ser) c.5883G>C (p.Arg1961Ser) c.5841G>C (p.Arg1947Ser) | |
| 2 | g.178776026C>T | CA2005133 | TTN | c.5838G>A (p.Arg1946=) c.5700G>A (p.Arg1900=) c.5886G>A (p.Arg1962=) c.5745G>A (p.Arg1915=) c.5883G>A (p.Arg1961=) c.5841G>A (p.Arg1947=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 2 | g.178776027C>A | CA349446415 | TTN | c.5837G>T (p.Arg1946Met) c.5699G>T (p.Arg1900Met) c.5885G>T (p.Arg1962Met) c.5744G>T (p.Arg1915Met) c.5882G>T (p.Arg1961Met) c.5840G>T (p.Arg1947Met) | |
| 2 | g.178776027C= | CA1310617478 | TTN | c.5837G= (p.Arg1946=) c.5699G= (p.Arg1900=) c.5885G= (p.Arg1962=) c.5744G= (p.Arg1915=) c.5882G= (p.Arg1961=) c.5840G= (p.Arg1947=) | |
| 2 | g.178776027C>G | CA349446410 | TTN | c.5837G>C (p.Arg1946Thr) c.5699G>C (p.Arg1900Thr) c.5885G>C (p.Arg1962Thr) c.5744G>C (p.Arg1915Thr) c.5882G>C (p.Arg1961Thr) c.5840G>C (p.Arg1947Thr) | dbSNP |
| 2 | g.178776027C>T | CA2005134 | TTN | c.5837G>A (p.Arg1946Lys) c.5699G>A (p.Arg1900Lys) c.5885G>A (p.Arg1962Lys) c.5744G>A (p.Arg1915Lys) c.5882G>A (p.Arg1961Lys) c.5840G>A (p.Arg1947Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178776028T>A | CA349446418 | TTN | c.5836A>T (p.Arg1946Trp) c.5698A>T (p.Arg1900Trp) c.5884A>T (p.Arg1962Trp) c.5743A>T (p.Arg1915Trp) c.5881A>T (p.Arg1961Trp) c.5839A>T (p.Arg1947Trp) | |
| 2 | g.178776028T>C | CA349446421 | TTN | c.5836A>G (p.Arg1946Gly) c.5698A>G (p.Arg1900Gly) c.5884A>G (p.Arg1962Gly) c.5743A>G (p.Arg1915Gly) c.5881A>G (p.Arg1961Gly) c.5839A>G (p.Arg1947Gly) | |
| 2 | g.178776028T>G | CA430280212 | TTN | c.5836A>C (p.Arg1946=) c.5698A>C (p.Arg1900=) c.5884A>C (p.Arg1962=) c.5743A>C (p.Arg1915=) c.5881A>C (p.Arg1961=) c.5839A>C (p.Arg1947=) | |
| 2 | g.178776029T>A | CA430280217 | TTN | c.5835A>T (p.Pro1945=) c.5697A>T (p.Pro1899=) c.5883A>T (p.Pro1961=) c.5742A>T (p.Pro1914=) c.5880A>T (p.Pro1960=) c.5838A>T (p.Pro1946=) | |
| 2 | g.178776029T>C | CA430280216 | TTN | c.5835A>G (p.Pro1945=) c.5697A>G (p.Pro1899=) c.5883A>G (p.Pro1961=) c.5742A>G (p.Pro1914=) c.5880A>G (p.Pro1960=) c.5838A>G (p.Pro1946=) | |
| 2 | g.178776029T>G | CA430280215 | TTN | c.5835A>C (p.Pro1945=) c.5697A>C (p.Pro1899=) c.5883A>C (p.Pro1961=) c.5742A>C (p.Pro1914=) c.5880A>C (p.Pro1960=) c.5838A>C (p.Pro1946=) | |
| 2 | g.178776030G>A | CA349446428 | TTN | c.5834C>T (p.Pro1945Leu) c.5696C>T (p.Pro1899Leu) c.5882C>T (p.Pro1961Leu) c.5741C>T (p.Pro1914Leu) c.5879C>T (p.Pro1960Leu) c.5837C>T (p.Pro1946Leu) | |
| 2 | g.178776030G>C | CA349446434 | TTN | c.5834C>G (p.Pro1945Arg) c.5696C>G (p.Pro1899Arg) c.5882C>G (p.Pro1961Arg) c.5741C>G (p.Pro1914Arg) c.5879C>G (p.Pro1960Arg) c.5837C>G (p.Pro1946Arg) | |
| 2 | g.178776030G>T | CA349446443 | TTN | c.5834C>A (p.Pro1945Gln) c.5696C>A (p.Pro1899Gln) c.5882C>A (p.Pro1961Gln) c.5741C>A (p.Pro1914Gln) c.5879C>A (p.Pro1960Gln) c.5837C>A (p.Pro1946Gln) | |
| 2 | g.178776031G>A | CA349446446 | TTN | c.5833C>T (p.Pro1945Ser) c.5695C>T (p.Pro1899Ser) c.5881C>T (p.Pro1961Ser) c.5740C>T (p.Pro1914Ser) c.5878C>T (p.Pro1960Ser) c.5836C>T (p.Pro1946Ser) | |
| 2 | g.178776031G>C | CA349446451 | TTN | c.5833C>G (p.Pro1945Ala) c.5695C>G (p.Pro1899Ala) c.5881C>G (p.Pro1961Ala) c.5740C>G (p.Pro1914Ala) c.5878C>G (p.Pro1960Ala) c.5836C>G (p.Pro1946Ala) | |
| 2 | g.178776031G>T | CA349446459 | TTN | c.5833C>A (p.Pro1945Thr) c.5695C>A (p.Pro1899Thr) c.5881C>A (p.Pro1961Thr) c.5740C>A (p.Pro1914Thr) c.5878C>A (p.Pro1960Thr) c.5836C>A (p.Pro1946Thr) | gnomAD v4 |
| 2 | g.178776032T>A | CA349446461 | TTN | c.5832A>T (p.Glu1944Asp) c.5694A>T (p.Glu1898Asp) c.5880A>T (p.Glu1960Asp) c.5739A>T (p.Glu1913Asp) c.5877A>T (p.Glu1959Asp) c.5835A>T (p.Glu1945Asp) | |
| 2 | g.178776032T>C | CA430280220 | TTN | c.5832A>G (p.Glu1944=) c.5694A>G (p.Glu1898=) c.5880A>G (p.Glu1960=) c.5739A>G (p.Glu1913=) c.5877A>G (p.Glu1959=) c.5835A>G (p.Glu1945=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178776032T>G | CA349446462 | TTN | c.5832A>C (p.Glu1944Asp) c.5694A>C (p.Glu1898Asp) c.5880A>C (p.Glu1960Asp) c.5739A>C (p.Glu1913Asp) c.5877A>C (p.Glu1959Asp) c.5835A>C (p.Glu1945Asp) | |
| 2 | g.178776032T= | CA1310617479 | TTN | c.5832A= (p.Glu1944=) c.5694A= (p.Glu1898=) c.5880A= (p.Glu1960=) c.5739A= (p.Glu1913=) c.5877A= (p.Glu1959=) c.5835A= (p.Glu1945=) | |
| 2 | g.178776033T>A | CA349446500 | TTN | c.5831A>T (p.Glu1944Val) c.5693A>T (p.Glu1898Val) c.5879A>T (p.Glu1960Val) c.5738A>T (p.Glu1913Val) c.5876A>T (p.Glu1959Val) c.5834A>T (p.Glu1945Val) | |
| 2 | g.178776033T>C | CA349446481 | TTN | c.5831A>G (p.Glu1944Gly) c.5693A>G (p.Glu1898Gly) c.5879A>G (p.Glu1960Gly) c.5738A>G (p.Glu1913Gly) c.5876A>G (p.Glu1959Gly) c.5834A>G (p.Glu1945Gly) | |
| 2 | g.178776033T>G | CA349446467 | TTN | c.5831A>C (p.Glu1944Ala) c.5693A>C (p.Glu1898Ala) c.5879A>C (p.Glu1960Ala) c.5738A>C (p.Glu1913Ala) c.5876A>C (p.Glu1959Ala) c.5834A>C (p.Glu1945Ala) | |
| 2 | g.178776034C>A | CA349446528 | TTN | c.5830G>T (p.Glu1944Ter) c.5692G>T (p.Glu1898Ter) c.5878G>T (p.Glu1960Ter) c.5737G>T (p.Glu1913Ter) c.5875G>T (p.Glu1959Ter) c.5833G>T (p.Glu1945Ter) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178776034C= | CA1310617480 | TTN | c.5830G= (p.Glu1944=) c.5692G= (p.Glu1898=) c.5878G= (p.Glu1960=) c.5737G= (p.Glu1913=) c.5875G= (p.Glu1959=) c.5833G= (p.Glu1945=) | |
| 2 | g.178776034C>G | CA349446549 | TTN | c.5830G>C (p.Glu1944Gln) c.5692G>C (p.Glu1898Gln) c.5878G>C (p.Glu1960Gln) c.5737G>C (p.Glu1913Gln) c.5875G>C (p.Glu1959Gln) c.5833G>C (p.Glu1945Gln) | gnomAD v4 |
| 2 | g.178776034C>T | CA349446550 | TTN | c.5830G>A (p.Glu1944Lys) c.5692G>A (p.Glu1898Lys) c.5878G>A (p.Glu1960Lys) c.5737G>A (p.Glu1913Lys) c.5875G>A (p.Glu1959Lys) c.5833G>A (p.Glu1945Lys) | dbSNP |
| 2 | g.178776034_178776035delinsAC | CA2740098037 | TTN | c.5829_5830delinsGT (p.Pro1944Ter) c.5691_5692delinsGT (p.Pro1898Ter) c.5877_5878delinsGT (p.Pro1960Ter) c.5736_5737delinsGT (p.Pro1913Ter) c.5874_5875delinsGT (p.Pro1959Ter) c.5832_5833delinsGT (p.Pro1945Ter) | |
| 2 | g.178776035A>C | CA430280224 | TTN | c.5829T>G (p.Pro1943=) c.5691T>G (p.Pro1897=) c.5877T>G (p.Pro1959=) c.5736T>G (p.Pro1912=) c.5874T>G (p.Pro1958=) c.5832T>G (p.Pro1944=) | |
| 2 | g.178776035A>G | CA430280230 | TTN | c.5829T>C (p.Pro1943=) c.5691T>C (p.Pro1897=) c.5877T>C (p.Pro1959=) c.5736T>C (p.Pro1912=) c.5874T>C (p.Pro1958=) c.5832T>C (p.Pro1944=) | gnomAD v4 |
| 2 | g.178776035A>T | CA430280226 | TTN | c.5829T>A (p.Pro1943=) c.5691T>A (p.Pro1897=) c.5877T>A (p.Pro1959=) c.5736T>A (p.Pro1912=) c.5874T>A (p.Pro1958=) c.5832T>A (p.Pro1944=) | |
| 2 | g.178776036G>A | CA349446557 | TTN | c.5828C>T (p.Pro1943Leu) c.5690C>T (p.Pro1897Leu) c.5876C>T (p.Pro1959Leu) c.5735C>T (p.Pro1912Leu) c.5873C>T (p.Pro1958Leu) c.5831C>T (p.Pro1944Leu) | |
| 2 | g.178776036G>C | CA349446558 | TTN | c.5828C>G (p.Pro1943Arg) c.5690C>G (p.Pro1897Arg) c.5876C>G (p.Pro1959Arg) c.5735C>G (p.Pro1912Arg) c.5873C>G (p.Pro1958Arg) c.5831C>G (p.Pro1944Arg) | |
| 2 | g.178776036G>T | CA349446559 | TTN | c.5828C>A (p.Pro1943His) c.5690C>A (p.Pro1897His) c.5876C>A (p.Pro1959His) c.5735C>A (p.Pro1912His) c.5873C>A (p.Pro1958His) c.5831C>A (p.Pro1944His) | |
| 2 | g.178776037G>A | CA349446561 | TTN | c.5827C>T (p.Pro1943Ser) c.5689C>T (p.Pro1897Ser) c.5875C>T (p.Pro1959Ser) c.5734C>T (p.Pro1912Ser) c.5872C>T (p.Pro1958Ser) c.5830C>T (p.Pro1944Ser) | |
| 2 | g.178776037G>C | CA349446573 | TTN | c.5827C>G (p.Pro1943Ala) c.5689C>G (p.Pro1897Ala) c.5875C>G (p.Pro1959Ala) c.5734C>G (p.Pro1912Ala) c.5872C>G (p.Pro1958Ala) c.5830C>G (p.Pro1944Ala) | |
| 2 | g.178776037G>T | CA349446583 | TTN | c.5827C>A (p.Pro1943Thr) c.5689C>A (p.Pro1897Thr) c.5875C>A (p.Pro1959Thr) c.5734C>A (p.Pro1912Thr) c.5872C>A (p.Pro1958Thr) c.5830C>A (p.Pro1944Thr) | |
| 2 | g.178776038A>C | CA430280237 | TTN | c.5826T>G (p.Ala1942=) c.5688T>G (p.Ala1896=) c.5874T>G (p.Ala1958=) c.5733T>G (p.Ala1911=) c.5871T>G (p.Ala1957=) c.5829T>G (p.Ala1943=) | |
| 2 | g.178776038A>G | CA430280238 | TTN | c.5826T>C (p.Ala1942=) c.5688T>C (p.Ala1896=) c.5874T>C (p.Ala1958=) c.5733T>C (p.Ala1911=) c.5871T>C (p.Ala1957=) c.5829T>C (p.Ala1943=) | |
| 2 | g.178776038A>T | CA430280239 | TTN | c.5826T>A (p.Ala1942=) c.5688T>A (p.Ala1896=) c.5874T>A (p.Ala1958=) c.5733T>A (p.Ala1911=) c.5871T>A (p.Ala1957=) c.5829T>A (p.Ala1943=) |