| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178777186T>A | CA349461408 | TTN | c.4777A>T (p.Ser1593Cys) c.4639A>T (p.Ser1547Cys) n.261T>A c.4825A>T (p.Ser1609Cys) c.4684A>T (p.Ser1562Cys) c.4822A>T (p.Ser1608Cys) c.4780A>T (p.Ser1594Cys) | |
| 2 | g.178777186T>C | CA349461417 | TTN | c.4777A>G (p.Ser1593Gly) c.4639A>G (p.Ser1547Gly) n.261T>C c.4825A>G (p.Ser1609Gly) c.4684A>G (p.Ser1562Gly) c.4822A>G (p.Ser1608Gly) c.4780A>G (p.Ser1594Gly) | |
| 2 | g.178777186T>G | CA349461406 | TTN | c.4777A>C (p.Ser1593Arg) c.4639A>C (p.Ser1547Arg) n.261T>G c.4825A>C (p.Ser1609Arg) c.4684A>C (p.Ser1562Arg) c.4822A>C (p.Ser1608Arg) c.4780A>C (p.Ser1594Arg) | |
| 2 | g.178777187G>A | CA430281257 | TTN | c.4776C>T (p.Asn1592=) c.4638C>T (p.Asn1546=) n.262G>A c.4824C>T (p.Asn1608=) c.4683C>T (p.Asn1561=) c.4821C>T (p.Asn1607=) c.4779C>T (p.Asn1593=) | |
| 2 | g.178777187G>C | CA349461421 | TTN | c.4776C>G (p.Asn1592Lys) c.4638C>G (p.Asn1546Lys) n.262G>C c.4824C>G (p.Asn1608Lys) c.4683C>G (p.Asn1561Lys) c.4821C>G (p.Asn1607Lys) c.4779C>G (p.Asn1593Lys) | |
| 2 | g.178777187G>T | CA349461427 | TTN | c.4776C>A (p.Asn1592Lys) c.4638C>A (p.Asn1546Lys) n.262G>T c.4824C>A (p.Asn1608Lys) c.4683C>A (p.Asn1561Lys) c.4821C>A (p.Asn1607Lys) c.4779C>A (p.Asn1593Lys) | |
| 2 | g.178777188T>A | CA349461439 | TTN | c.4775A>T (p.Asn1592Ile) c.4637A>T (p.Asn1546Ile) n.263T>A c.4823A>T (p.Asn1608Ile) c.4682A>T (p.Asn1561Ile) c.4820A>T (p.Asn1607Ile) c.4778A>T (p.Asn1593Ile) | |
| 2 | g.178777188T>C | CA349461450 | TTN | c.4775A>G (p.Asn1592Ser) c.4637A>G (p.Asn1546Ser) n.263T>C c.4823A>G (p.Asn1608Ser) c.4682A>G (p.Asn1561Ser) c.4820A>G (p.Asn1607Ser) c.4778A>G (p.Asn1593Ser) | |
| 2 | g.178777188T>G | CA349461465 | TTN | c.4775A>C (p.Asn1592Thr) c.4637A>C (p.Asn1546Thr) n.263T>G c.4823A>C (p.Asn1608Thr) c.4682A>C (p.Asn1561Thr) c.4820A>C (p.Asn1607Thr) c.4778A>C (p.Asn1593Thr) | |
| 2 | g.178777189T>A | CA349461488 | TTN | c.4774A>T (p.Asn1592Tyr) c.4636A>T (p.Asn1546Tyr) n.264T>A c.4822A>T (p.Asn1608Tyr) c.4681A>T (p.Asn1561Tyr) c.4819A>T (p.Asn1607Tyr) c.4777A>T (p.Asn1593Tyr) | |
| 2 | g.178777189T>C | CA349461479 | TTN | c.4774A>G (p.Asn1592Asp) c.4636A>G (p.Asn1546Asp) n.264T>C c.4822A>G (p.Asn1608Asp) c.4681A>G (p.Asn1561Asp) c.4819A>G (p.Asn1607Asp) c.4777A>G (p.Asn1593Asp) | |
| 2 | g.178777189T>G | CA349461486 | TTN | c.4774A>C (p.Asn1592His) c.4636A>C (p.Asn1546His) n.264T>G c.4822A>C (p.Asn1608His) c.4681A>C (p.Asn1561His) c.4819A>C (p.Asn1607His) c.4777A>C (p.Asn1593His) | |
| 2 | g.178777190T>A | CA349461500 | TTN | c.4773A>T (p.Lys1591Asn) c.4635A>T (p.Lys1545Asn) n.265T>A c.4821A>T (p.Lys1607Asn) c.4680A>T (p.Lys1560Asn) c.4818A>T (p.Lys1606Asn) c.4776A>T (p.Lys1592Asn) | |
| 2 | g.178777190T>C | CA430281266 | TTN | c.4773A>G (p.Lys1591=) c.4635A>G (p.Lys1545=) n.265T>C c.4821A>G (p.Lys1607=) c.4680A>G (p.Lys1560=) c.4818A>G (p.Lys1606=) c.4776A>G (p.Lys1592=) | ClinVar |
| 2 | g.178777190T>G | CA349461501 | TTN | c.4773A>C (p.Lys1591Asn) c.4635A>C (p.Lys1545Asn) n.265T>G c.4821A>C (p.Lys1607Asn) c.4680A>C (p.Lys1560Asn) c.4818A>C (p.Lys1606Asn) c.4776A>C (p.Lys1592Asn) | |
| 2 | g.178777191T>A | CA349461504 | TTN | c.4772A>T (p.Lys1591Ile) c.4634A>T (p.Lys1545Ile) n.266T>A c.4820A>T (p.Lys1607Ile) c.4679A>T (p.Lys1560Ile) c.4817A>T (p.Lys1606Ile) c.4775A>T (p.Lys1592Ile) | |
| 2 | g.178777191T>C | CA349461508 | TTN | c.4772A>G (p.Lys1591Arg) c.4634A>G (p.Lys1545Arg) n.266T>C c.4820A>G (p.Lys1607Arg) c.4679A>G (p.Lys1560Arg) c.4817A>G (p.Lys1606Arg) c.4775A>G (p.Lys1592Arg) | dbSNP gnomAD v4 |
| 2 | g.178777191T>G | CA349461509 | TTN | c.4772A>C (p.Lys1591Thr) c.4634A>C (p.Lys1545Thr) n.266T>G c.4820A>C (p.Lys1607Thr) c.4679A>C (p.Lys1560Thr) c.4817A>C (p.Lys1606Thr) c.4775A>C (p.Lys1592Thr) | |
| 2 | g.178777191T= | CA1310617929 | TTN | c.4772A= (p.Lys1591=) c.4634A= (p.Lys1545=) n.266T= c.4820A= (p.Lys1607=) c.4679A= (p.Lys1560=) c.4817A= (p.Lys1606=) c.4775A= (p.Lys1592=) | |
| 2 | g.178777192T>A | CA349461518 | TTN | c.4771A>T (p.Lys1591Ter) c.4633A>T (p.Lys1545Ter) n.267T>A c.4819A>T (p.Lys1607Ter) c.4678A>T (p.Lys1560Ter) c.4816A>T (p.Lys1606Ter) c.4774A>T (p.Lys1592Ter) | |
| 2 | g.178777192T>C | CA349461516 | TTN | c.4771A>G (p.Lys1591Glu) c.4633A>G (p.Lys1545Glu) n.267T>C c.4819A>G (p.Lys1607Glu) c.4678A>G (p.Lys1560Glu) c.4816A>G (p.Lys1606Glu) c.4774A>G (p.Lys1592Glu) | |
| 2 | g.178777192T>G | CA349461515 | TTN | c.4771A>C (p.Lys1591Gln) c.4633A>C (p.Lys1545Gln) n.267T>G c.4819A>C (p.Lys1607Gln) c.4678A>C (p.Lys1560Gln) c.4816A>C (p.Lys1606Gln) c.4774A>C (p.Lys1592Gln) | |
| 2 | g.178777193C>A | CA349461520 | TTN | c.4770G>T (p.Leu1590Phe) c.4632G>T (p.Leu1544Phe) n.268C>A c.4818G>T (p.Leu1606Phe) c.4677G>T (p.Leu1559Phe) c.4815G>T (p.Leu1605Phe) c.4773G>T (p.Leu1591Phe) | |
| 2 | g.178777193C>G | CA349461528 | TTN | c.4770G>C (p.Leu1590Phe) c.4632G>C (p.Leu1544Phe) n.268C>G c.4818G>C (p.Leu1606Phe) c.4677G>C (p.Leu1559Phe) c.4815G>C (p.Leu1605Phe) c.4773G>C (p.Leu1591Phe) | ClinVar gnomAD v4 |
| 2 | g.178777193C>T | CA430281278 | TTN | c.4770G>A (p.Leu1590=) c.4632G>A (p.Leu1544=) n.268C>T c.4818G>A (p.Leu1606=) c.4677G>A (p.Leu1559=) c.4815G>A (p.Leu1605=) c.4773G>A (p.Leu1591=) | |
| 2 | g.178777194A>C | CA349461532 | TTN | c.4769T>G (p.Leu1590Trp) c.4631T>G (p.Leu1544Trp) n.269A>C c.4817T>G (p.Leu1606Trp) c.4676T>G (p.Leu1559Trp) c.4814T>G (p.Leu1605Trp) c.4772T>G (p.Leu1591Trp) | |
| 2 | g.178777194A>G | CA349461534 | TTN | c.4769T>C (p.Leu1590Ser) c.4631T>C (p.Leu1544Ser) n.269A>G c.4817T>C (p.Leu1606Ser) c.4676T>C (p.Leu1559Ser) c.4814T>C (p.Leu1605Ser) c.4772T>C (p.Leu1591Ser) | |
| 2 | g.178777194A>T | CA349461541 | TTN | c.4769T>A (p.Leu1590Ter) c.4631T>A (p.Leu1544Ter) n.269A>T c.4817T>A (p.Leu1606Ter) c.4676T>A (p.Leu1559Ter) c.4814T>A (p.Leu1605Ter) c.4772T>A (p.Leu1591Ter) | |
| 2 | g.178777195A>C | CA349461548 | TTN | c.4768T>G (p.Leu1590Val) c.4630T>G (p.Leu1544Val) n.270A>C c.4816T>G (p.Leu1606Val) c.4675T>G (p.Leu1559Val) c.4813T>G (p.Leu1605Val) c.4771T>G (p.Leu1591Val) | |
| 2 | g.178777195A>G | CA430281284 | TTN | c.4768T>C (p.Leu1590=) c.4630T>C (p.Leu1544=) n.270A>G c.4816T>C (p.Leu1606=) c.4675T>C (p.Leu1559=) c.4813T>C (p.Leu1605=) c.4771T>C (p.Leu1591=) | |
| 2 | g.178777195A>T | CA349461549 | TTN | c.4768T>A (p.Leu1590Met) c.4630T>A (p.Leu1544Met) n.270A>T c.4816T>A (p.Leu1606Met) c.4675T>A (p.Leu1559Met) c.4813T>A (p.Leu1605Met) c.4771T>A (p.Leu1591Met) | |
| 2 | g.178777196C>A | CA349461555 | TTN | c.4767G>T (p.Trp1589Cys) c.4629G>T (p.Trp1543Cys) n.271C>A c.4815G>T (p.Trp1605Cys) c.4674G>T (p.Trp1558Cys) c.4812G>T (p.Trp1604Cys) c.4770G>T (p.Trp1590Cys) | |
| 2 | g.178777196C>G | CA349461563 | TTN | c.4767G>C (p.Trp1589Cys) c.4629G>C (p.Trp1543Cys) n.271C>G c.4815G>C (p.Trp1605Cys) c.4674G>C (p.Trp1558Cys) c.4812G>C (p.Trp1604Cys) c.4770G>C (p.Trp1590Cys) | |
| 2 | g.178777196C>T | CA349461573 | TTN | c.4767G>A (p.Trp1589Ter) c.4629G>A (p.Trp1543Ter) n.271C>T c.4815G>A (p.Trp1605Ter) c.4674G>A (p.Trp1558Ter) c.4812G>A (p.Trp1604Ter) c.4770G>A (p.Trp1590Ter) | |
| 2 | g.178777197C>A | CA349461585 | TTN | c.4766G>T (p.Trp1589Leu) c.4628G>T (p.Trp1543Leu) n.272C>A c.4814G>T (p.Trp1605Leu) c.4673G>T (p.Trp1558Leu) c.4811G>T (p.Trp1604Leu) c.4769G>T (p.Trp1590Leu) | |
| 2 | g.178777197C>G | CA349461589 | TTN | c.4766G>C (p.Trp1589Ser) c.4628G>C (p.Trp1543Ser) n.272C>G c.4814G>C (p.Trp1605Ser) c.4673G>C (p.Trp1558Ser) c.4811G>C (p.Trp1604Ser) c.4769G>C (p.Trp1590Ser) | |
| 2 | g.178777197C>T | CA349461600 | TTN | c.4766G>A (p.Trp1589Ter) c.4628G>A (p.Trp1543Ter) n.272C>T c.4814G>A (p.Trp1605Ter) c.4673G>A (p.Trp1558Ter) c.4811G>A (p.Trp1604Ter) c.4769G>A (p.Trp1590Ter) | ClinVar |
| 2 | g.178777198A>C | CA349461627 | TTN | c.4765T>G (p.Trp1589Gly) c.4627T>G (p.Trp1543Gly) n.273A>C c.4813T>G (p.Trp1605Gly) c.4672T>G (p.Trp1558Gly) c.4810T>G (p.Trp1604Gly) c.4768T>G (p.Trp1590Gly) | |
| 2 | g.178777198A>G | CA349461621 | TTN | c.4765T>C (p.Trp1589Arg) c.4627T>C (p.Trp1543Arg) n.273A>G c.4813T>C (p.Trp1605Arg) c.4672T>C (p.Trp1558Arg) c.4810T>C (p.Trp1604Arg) c.4768T>C (p.Trp1590Arg) | |
| 2 | g.178777198A>T | CA349461624 | TTN | c.4765T>A (p.Trp1589Arg) c.4627T>A (p.Trp1543Arg) n.273A>T c.4813T>A (p.Trp1605Arg) c.4672T>A (p.Trp1558Arg) c.4810T>A (p.Trp1604Arg) c.4768T>A (p.Trp1590Arg) | gnomAD v4 |
| 2 | g.178777199T>A | CA430281297 | TTN | c.4764A>T (p.Val1588=) c.4626A>T (p.Val1542=) n.274T>A c.4812A>T (p.Val1604=) c.4671A>T (p.Val1557=) c.4809A>T (p.Val1603=) c.4767A>T (p.Val1589=) | |
| 2 | g.178777199T>C | CA430281298 | TTN | c.4764A>G (p.Val1588=) c.4626A>G (p.Val1542=) n.274T>C c.4812A>G (p.Val1604=) c.4671A>G (p.Val1557=) c.4809A>G (p.Val1603=) c.4767A>G (p.Val1589=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178777199T>G | CA430281299 | TTN | c.4764A>C (p.Val1588=) c.4626A>C (p.Val1542=) n.274T>G c.4812A>C (p.Val1604=) c.4671A>C (p.Val1557=) c.4809A>C (p.Val1603=) c.4767A>C (p.Val1589=) | |
| 2 | g.178777199T= | CA1310617930 | TTN | c.4764A= (p.Val1588=) c.4626A= (p.Val1542=) n.274T= c.4812A= (p.Val1604=) c.4671A= (p.Val1557=) c.4809A= (p.Val1603=) c.4767A= (p.Val1589=) | |
| 2 | g.178777200A= | CA1310617931 | TTN | c.4763T= (p.Val1588=) c.4625T= (p.Val1542=) n.275A= c.4811T= (p.Val1604=) c.4670T= (p.Val1557=) c.4808T= (p.Val1603=) c.4766T= (p.Val1589=) | |
| 2 | g.178777200A>C | CA349461631 | TTN | c.4763T>G (p.Val1588Gly) c.4625T>G (p.Val1542Gly) n.275A>C c.4811T>G (p.Val1604Gly) c.4670T>G (p.Val1557Gly) c.4808T>G (p.Val1603Gly) c.4766T>G (p.Val1589Gly) | |
| 2 | g.178777200A>G | CA349461635 | TTN | c.4763T>C (p.Val1588Ala) c.4625T>C (p.Val1542Ala) n.275A>G c.4811T>C (p.Val1604Ala) c.4670T>C (p.Val1557Ala) c.4808T>C (p.Val1603Ala) c.4766T>C (p.Val1589Ala) | dbSNP gnomAD v4 |
| 2 | g.178777200A>T | CA349461638 | TTN | c.4763T>A (p.Val1588Glu) c.4625T>A (p.Val1542Glu) n.275A>T c.4811T>A (p.Val1604Glu) c.4670T>A (p.Val1557Glu) c.4808T>A (p.Val1603Glu) c.4766T>A (p.Val1589Glu) | |
| 2 | g.178777201C>A | CA349461643 | TTN | c.4762G>T (p.Val1588Leu) c.4624G>T (p.Val1542Leu) n.276C>A c.4810G>T (p.Val1604Leu) c.4669G>T (p.Val1557Leu) c.4807G>T (p.Val1603Leu) c.4765G>T (p.Val1589Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178777201C= | CA1310617932 | TTN | c.4762G= (p.Val1588=) c.4624G= (p.Val1542=) n.276C= c.4810G= (p.Val1604=) c.4669G= (p.Val1557=) c.4807G= (p.Val1603=) c.4765G= (p.Val1589=) |