| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178776899C>A | CA349458600 | TTN | c.4965G>T (p.Glu1655Asp) c.4827G>T (p.Glu1609Asp) c.5013G>T (p.Glu1671Asp) c.4872G>T (p.Glu1624Asp) c.5010G>T (p.Glu1670Asp) c.4968G>T (p.Glu1656Asp) | |
| 2 | g.178776899C>G | CA349458602 | TTN | c.4965G>C (p.Glu1655Asp) c.4827G>C (p.Glu1609Asp) c.5013G>C (p.Glu1671Asp) c.4872G>C (p.Glu1624Asp) c.5010G>C (p.Glu1670Asp) c.4968G>C (p.Glu1656Asp) | |
| 2 | g.178776899C>T | CA430281497 | TTN | c.4965G>A (p.Glu1655=) c.4827G>A (p.Glu1609=) c.5013G>A (p.Glu1671=) c.4872G>A (p.Glu1624=) c.5010G>A (p.Glu1670=) c.4968G>A (p.Glu1656=) | |
| 2 | g.178776900T>A | CA349458631 | TTN | c.4964A>T (p.Glu1655Val) c.4826A>T (p.Glu1609Val) c.5012A>T (p.Glu1671Val) c.4871A>T (p.Glu1624Val) c.5009A>T (p.Glu1670Val) c.4967A>T (p.Glu1656Val) | |
| 2 | g.178776900T>C | CA349458643 | TTN | c.4964A>G (p.Glu1655Gly) c.4826A>G (p.Glu1609Gly) c.5012A>G (p.Glu1671Gly) c.4871A>G (p.Glu1624Gly) c.5009A>G (p.Glu1670Gly) c.4967A>G (p.Glu1656Gly) | |
| 2 | g.178776900T>G | CA349458618 | TTN | c.4964A>C (p.Glu1655Ala) c.4826A>C (p.Glu1609Ala) c.5012A>C (p.Glu1671Ala) c.4871A>C (p.Glu1624Ala) c.5009A>C (p.Glu1670Ala) c.4967A>C (p.Glu1656Ala) | |
| 2 | g.178776901C>A | CA349458659 | TTN | c.4963G>T (p.Glu1655Ter) c.4825G>T (p.Glu1609Ter) c.5011G>T (p.Glu1671Ter) c.4870G>T (p.Glu1624Ter) c.5008G>T (p.Glu1670Ter) c.4966G>T (p.Glu1656Ter) | |
| 2 | g.178776901C= | CA1310617827 | TTN | c.4963G= (p.Glu1655=) c.4825G= (p.Glu1609=) c.5011G= (p.Glu1671=) c.4870G= (p.Glu1624=) c.5008G= (p.Glu1670=) c.4966G= (p.Glu1656=) | dbSNP |
| 2 | g.178776901C>G | CA349458651 | TTN | c.4963G>C (p.Glu1655Gln) c.4825G>C (p.Glu1609Gln) c.5011G>C (p.Glu1671Gln) c.4870G>C (p.Glu1624Gln) c.5008G>C (p.Glu1670Gln) c.4966G>C (p.Glu1656Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178776901C>T | CA349458668 | TTN | c.4963G>A (p.Glu1655Lys) c.4825G>A (p.Glu1609Lys) c.5011G>A (p.Glu1671Lys) c.4870G>A (p.Glu1624Lys) c.5008G>A (p.Glu1670Lys) c.4966G>A (p.Glu1656Lys) | |
| 2 | g.178776902A>C | CA430281511 | TTN | c.4962T>G (p.Pro1654=) c.4824T>G (p.Pro1608=) c.5010T>G (p.Pro1670=) c.4869T>G (p.Pro1623=) c.5007T>G (p.Pro1669=) c.4965T>G (p.Pro1655=) | |
| 2 | g.178776902A>G | CA430281515 | TTN | c.4962T>C (p.Pro1654=) c.4824T>C (p.Pro1608=) c.5010T>C (p.Pro1670=) c.4869T>C (p.Pro1623=) c.5007T>C (p.Pro1669=) c.4965T>C (p.Pro1655=) | |
| 2 | g.178776902A>T | CA430281513 | TTN | c.4962T>A (p.Pro1654=) c.4824T>A (p.Pro1608=) c.5010T>A (p.Pro1670=) c.4869T>A (p.Pro1623=) c.5007T>A (p.Pro1669=) c.4965T>A (p.Pro1655=) | |
| 2 | g.178776903G>A | CA349458674 | TTN | c.4961C>T (p.Pro1654Leu) c.4823C>T (p.Pro1608Leu) c.5009C>T (p.Pro1670Leu) c.4868C>T (p.Pro1623Leu) c.5006C>T (p.Pro1669Leu) c.4964C>T (p.Pro1655Leu) | |
| 2 | g.178776903G>C | CA349458675 | TTN | c.4961C>G (p.Pro1654Arg) c.4823C>G (p.Pro1608Arg) c.5009C>G (p.Pro1670Arg) c.4868C>G (p.Pro1623Arg) c.5006C>G (p.Pro1669Arg) c.4964C>G (p.Pro1655Arg) | |
| 2 | g.178776903G>T | CA349458676 | TTN | c.4961C>A (p.Pro1654His) c.4823C>A (p.Pro1608His) c.5009C>A (p.Pro1670His) c.4868C>A (p.Pro1623His) c.5006C>A (p.Pro1669His) c.4964C>A (p.Pro1655His) | |
| 2 | g.178776904G>A | CA349458677 | TTN | c.4960C>T (p.Pro1654Ser) c.4822C>T (p.Pro1608Ser) c.5008C>T (p.Pro1670Ser) c.4867C>T (p.Pro1623Ser) c.5005C>T (p.Pro1669Ser) c.4963C>T (p.Pro1655Ser) | ClinVar dbSNP |
| 2 | g.178776904G>C | CA10576576 | TTN | c.4960C>G (p.Pro1654Ala) c.4822C>G (p.Pro1608Ala) c.5008C>G (p.Pro1670Ala) c.4867C>G (p.Pro1623Ala) c.5005C>G (p.Pro1669Ala) c.4963C>G (p.Pro1655Ala) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178776904G= | CA1310617828 | TTN | c.4960C= (p.Pro1654=) c.4822C= (p.Pro1608=) c.5008C= (p.Pro1670=) c.4867C= (p.Pro1623=) c.5005C= (p.Pro1669=) c.4963C= (p.Pro1655=) | dbSNP |
| 2 | g.178776904G>T | CA349458695 | TTN | c.4960C>A (p.Pro1654Thr) c.4822C>A (p.Pro1608Thr) c.5008C>A (p.Pro1670Thr) c.4867C>A (p.Pro1623Thr) c.5005C>A (p.Pro1669Thr) c.4963C>A (p.Pro1655Thr) | |
| 2 | g.178776905C>A | CA349458703 | TTN | c.4959G>T (p.Glu1653Asp) c.4821G>T (p.Glu1607Asp) c.5007G>T (p.Glu1669Asp) c.4866G>T (p.Glu1622Asp) c.5004G>T (p.Glu1668Asp) c.4962G>T (p.Glu1654Asp) | |
| 2 | g.178776905C= | CA1310617829 | TTN | c.4959G= (p.Glu1653=) c.4821G= (p.Glu1607=) c.5007G= (p.Glu1669=) c.4866G= (p.Glu1622=) c.5004G= (p.Glu1668=) c.4962G= (p.Glu1654=) | dbSNP |
| 2 | g.178776905C>G | CA349458702 | TTN | c.4959G>C (p.Glu1653Asp) c.4821G>C (p.Glu1607Asp) c.5007G>C (p.Glu1669Asp) c.4866G>C (p.Glu1622Asp) c.5004G>C (p.Glu1668Asp) c.4962G>C (p.Glu1654Asp) | |
| 2 | g.178776905C>T | CA430281538 | TTN | c.4959G>A (p.Glu1653=) c.4821G>A (p.Glu1607=) c.5007G>A (p.Glu1669=) c.4866G>A (p.Glu1622=) c.5004G>A (p.Glu1668=) c.4962G>A (p.Glu1654=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178776906T>A | CA349458704 | TTN | c.4958A>T (p.Glu1653Val) c.4820A>T (p.Glu1607Val) c.5006A>T (p.Glu1669Val) c.4865A>T (p.Glu1622Val) c.5003A>T (p.Glu1668Val) c.4961A>T (p.Glu1654Val) | |
| 2 | g.178776906T>C | CA349458706 | TTN | c.4958A>G (p.Glu1653Gly) c.4820A>G (p.Glu1607Gly) c.5006A>G (p.Glu1669Gly) c.4865A>G (p.Glu1622Gly) c.5003A>G (p.Glu1668Gly) c.4961A>G (p.Glu1654Gly) | |
| 2 | g.178776906T>G | CA349458720 | TTN | c.4958A>C (p.Glu1653Ala) c.4820A>C (p.Glu1607Ala) c.5006A>C (p.Glu1669Ala) c.4865A>C (p.Glu1622Ala) c.5003A>C (p.Glu1668Ala) c.4961A>C (p.Glu1654Ala) | |
| 2 | g.178776907C>A | CA349458731 | TTN | c.4957G>T (p.Glu1653Ter) c.4819G>T (p.Glu1607Ter) c.5005G>T (p.Glu1669Ter) c.4864G>T (p.Glu1622Ter) c.5002G>T (p.Glu1668Ter) c.4960G>T (p.Glu1654Ter) | |
| 2 | g.178776907C>G | CA349458740 | TTN | c.4957G>C (p.Glu1653Gln) c.4819G>C (p.Glu1607Gln) c.5005G>C (p.Glu1669Gln) c.4864G>C (p.Glu1622Gln) c.5002G>C (p.Glu1668Gln) c.4960G>C (p.Glu1654Gln) | |
| 2 | g.178776907C>T | CA349458741 | TTN | c.4957G>A (p.Glu1653Lys) c.4819G>A (p.Glu1607Lys) c.5005G>A (p.Glu1669Lys) c.4864G>A (p.Glu1622Lys) c.5002G>A (p.Glu1668Lys) c.4960G>A (p.Glu1654Lys) | |
| 2 | g.178776908T>A | CA430281544 | TTN | c.4956A>T (p.Ala1652=) c.4818A>T (p.Ala1606=) c.5004A>T (p.Ala1668=) c.4863A>T (p.Ala1621=) c.5001A>T (p.Ala1667=) c.4959A>T (p.Ala1653=) | |
| 2 | g.178776908T>C | CA430281545 | TTN | c.4956A>G (p.Ala1652=) c.4818A>G (p.Ala1606=) c.5004A>G (p.Ala1668=) c.4863A>G (p.Ala1621=) c.5001A>G (p.Ala1667=) c.4959A>G (p.Ala1653=) | |
| 2 | g.178776908T>G | CA430281546 | TTN | c.4956A>C (p.Ala1652=) c.4818A>C (p.Ala1606=) c.5004A>C (p.Ala1668=) c.4863A>C (p.Ala1621=) c.5001A>C (p.Ala1667=) c.4959A>C (p.Ala1653=) | |
| 2 | g.178776909G>A | CA349458744 | TTN | c.4955C>T (p.Ala1652Val) c.4817C>T (p.Ala1606Val) c.5003C>T (p.Ala1668Val) c.4862C>T (p.Ala1621Val) c.5000C>T (p.Ala1667Val) c.4958C>T (p.Ala1653Val) | |
| 2 | g.178776909G>C | CA349458756 | TTN | c.4955C>G (p.Ala1652Gly) c.4817C>G (p.Ala1606Gly) c.5003C>G (p.Ala1668Gly) c.4862C>G (p.Ala1621Gly) c.5000C>G (p.Ala1667Gly) c.4958C>G (p.Ala1653Gly) | |
| 2 | g.178776909G>T | CA349458749 | TTN | c.4955C>A (p.Ala1652Glu) c.4817C>A (p.Ala1606Glu) c.5003C>A (p.Ala1668Glu) c.4862C>A (p.Ala1621Glu) c.5000C>A (p.Ala1667Glu) c.4958C>A (p.Ala1653Glu) | |
| 2 | g.178776910C>A | CA349458768 | TTN | c.4954G>T (p.Ala1652Ser) c.4816G>T (p.Ala1606Ser) c.5002G>T (p.Ala1668Ser) c.4861G>T (p.Ala1621Ser) c.4999G>T (p.Ala1667Ser) c.4957G>T (p.Ala1653Ser) | |
| 2 | g.178776910C>G | CA349458773 | TTN | c.4954G>C (p.Ala1652Pro) c.4816G>C (p.Ala1606Pro) c.5002G>C (p.Ala1668Pro) c.4861G>C (p.Ala1621Pro) c.4999G>C (p.Ala1667Pro) c.4957G>C (p.Ala1653Pro) | |
| 2 | g.178776910C>T | CA349458774 | TTN | c.4954G>A (p.Ala1652Thr) c.4816G>A (p.Ala1606Thr) c.5002G>A (p.Ala1668Thr) c.4861G>A (p.Ala1621Thr) c.4999G>A (p.Ala1667Thr) c.4957G>A (p.Ala1653Thr) | |
| 2 | g.178776911A>C | CA349458775 | TTN | c.4953T>G (p.Phe1651Leu) c.4815T>G (p.Phe1605Leu) c.5001T>G (p.Phe1667Leu) c.4860T>G (p.Phe1620Leu) c.4998T>G (p.Phe1666Leu) c.4956T>G (p.Phe1652Leu) | |
| 2 | g.178776911A>G | CA430281553 | TTN | c.4953T>C (p.Phe1651=) c.4815T>C (p.Phe1605=) c.5001T>C (p.Phe1667=) c.4860T>C (p.Phe1620=) c.4998T>C (p.Phe1666=) c.4956T>C (p.Phe1652=) | |
| 2 | g.178776911A>T | CA349458783 | TTN | c.4953T>A (p.Phe1651Leu) c.4815T>A (p.Phe1605Leu) c.5001T>A (p.Phe1667Leu) c.4860T>A (p.Phe1620Leu) c.4998T>A (p.Phe1666Leu) c.4956T>A (p.Phe1652Leu) | |
| 2 | g.178776911_178776915del | CA2577175024 | TTN | c.4949_4953del (p.Glu1650GlyfsTer4) c.4811_4815del (p.Glu1604GlyfsTer4) c.4997_5001del (p.Glu1666GlyfsTer4) c.4856_4860del (p.Glu1619GlyfsTer4) c.4994_4998del (p.Glu1665GlyfsTer4) c.4952_4956del (p.Glu1651GlyfsTer4) | |
| 2 | g.178776912A>C | CA349458790 | TTN | c.4952T>G (p.Phe1651Cys) c.4814T>G (p.Phe1605Cys) c.5000T>G (p.Phe1667Cys) c.4859T>G (p.Phe1620Cys) c.4997T>G (p.Phe1666Cys) c.4955T>G (p.Phe1652Cys) | |
| 2 | g.178776912A>G | CA349458792 | TTN | c.4952T>C (p.Phe1651Ser) c.4814T>C (p.Phe1605Ser) c.5000T>C (p.Phe1667Ser) c.4859T>C (p.Phe1620Ser) c.4997T>C (p.Phe1666Ser) c.4955T>C (p.Phe1652Ser) | |
| 2 | g.178776912A>T | CA349458798 | TTN | c.4952T>A (p.Phe1651Tyr) c.4814T>A (p.Phe1605Tyr) c.5000T>A (p.Phe1667Tyr) c.4859T>A (p.Phe1620Tyr) c.4997T>A (p.Phe1666Tyr) c.4955T>A (p.Phe1652Tyr) | |
| 2 | g.178776913A>C | CA349458803 | TTN | c.4951T>G (p.Phe1651Val) c.4813T>G (p.Phe1605Val) c.4999T>G (p.Phe1667Val) c.4858T>G (p.Phe1620Val) c.4996T>G (p.Phe1666Val) c.4954T>G (p.Phe1652Val) | |
| 2 | g.178776913A>G | CA349458804 | TTN | c.4951T>C (p.Phe1651Leu) c.4813T>C (p.Phe1605Leu) c.4999T>C (p.Phe1667Leu) c.4858T>C (p.Phe1620Leu) c.4996T>C (p.Phe1666Leu) c.4954T>C (p.Phe1652Leu) | |
| 2 | g.178776913A>T | CA349458807 | TTN | c.4951T>A (p.Phe1651Ile) c.4813T>A (p.Phe1605Ile) c.4999T>A (p.Phe1667Ile) c.4858T>A (p.Phe1620Ile) c.4996T>A (p.Phe1666Ile) c.4954T>A (p.Phe1652Ile) | |
| 2 | g.178776914C>A | CA349458809 | TTN | c.4950G>T (p.Glu1650Asp) c.4812G>T (p.Glu1604Asp) c.4998G>T (p.Glu1666Asp) c.4857G>T (p.Glu1619Asp) c.4995G>T (p.Glu1665Asp) c.4953G>T (p.Glu1651Asp) |