| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178776894T>A | CA349458557 | TTN | c.4970A>T (p.Glu1657Val) c.4832A>T (p.Glu1611Val) c.5018A>T (p.Glu1673Val) c.4877A>T (p.Glu1626Val) c.5015A>T (p.Glu1672Val) c.4973A>T (p.Glu1658Val) | dbSNP |
| 2 | g.178776894T>C | CA349458559 | TTN | c.4970A>G (p.Glu1657Gly) c.4832A>G (p.Glu1611Gly) c.5018A>G (p.Glu1673Gly) c.4877A>G (p.Glu1626Gly) c.5015A>G (p.Glu1672Gly) c.4973A>G (p.Glu1658Gly) | |
| 2 | g.178776894T>G | CA349458561 | TTN | c.4970A>C (p.Glu1657Ala) c.4832A>C (p.Glu1611Ala) c.5018A>C (p.Glu1673Ala) c.4877A>C (p.Glu1626Ala) c.5015A>C (p.Glu1672Ala) c.4973A>C (p.Glu1658Ala) | |
| 2 | g.178776894T= | CA3090895899 | TTN | c.4970A= (p.Glu1657=) c.4832A= (p.Glu1611=) c.5018A= (p.Glu1673=) c.4877A= (p.Glu1626=) c.5015A= (p.Glu1672=) c.4973A= (p.Glu1658=) | dbSNP |
| 2 | g.178776895C>A | CA349458565 | TTN | c.4969G>T (p.Glu1657Ter) c.4831G>T (p.Glu1611Ter) c.5017G>T (p.Glu1673Ter) c.4876G>T (p.Glu1626Ter) c.5014G>T (p.Glu1672Ter) c.4972G>T (p.Glu1658Ter) | |
| 2 | g.178776895C= | CA1310617825 | TTN | c.4969G= (p.Glu1657=) c.4831G= (p.Glu1611=) c.5017G= (p.Glu1673=) c.4876G= (p.Glu1626=) c.5014G= (p.Glu1672=) c.4972G= (p.Glu1658=) | dbSNP |
| 2 | g.178776895C>G | CA349458568 | TTN | c.4969G>C (p.Glu1657Gln) c.4831G>C (p.Glu1611Gln) c.5017G>C (p.Glu1673Gln) c.4876G>C (p.Glu1626Gln) c.5014G>C (p.Glu1672Gln) c.4972G>C (p.Glu1658Gln) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178776895C>T | CA349458570 | TTN | c.4969G>A (p.Glu1657Lys) c.4831G>A (p.Glu1611Lys) c.5017G>A (p.Glu1673Lys) c.4876G>A (p.Glu1626Lys) c.5014G>A (p.Glu1672Lys) c.4972G>A (p.Glu1658Lys) | |
| 2 | g.178776896T>A | CA430281477 | TTN | c.4968A>T (p.Pro1656=) c.4830A>T (p.Pro1610=) c.5016A>T (p.Pro1672=) c.4875A>T (p.Pro1625=) c.5013A>T (p.Pro1671=) c.4971A>T (p.Pro1657=) | |
| 2 | g.178776896T>C | CA430281480 | TTN | c.4968A>G (p.Pro1656=) c.4830A>G (p.Pro1610=) c.5016A>G (p.Pro1672=) c.4875A>G (p.Pro1625=) c.5013A>G (p.Pro1671=) c.4971A>G (p.Pro1657=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178776896T>G | CA430281481 | TTN | c.4968A>C (p.Pro1656=) c.4830A>C (p.Pro1610=) c.5016A>C (p.Pro1672=) c.4875A>C (p.Pro1625=) c.5013A>C (p.Pro1671=) c.4971A>C (p.Pro1657=) | |
| 2 | g.178776896T= | CA3098920792 | TTN | c.4968A= (p.Pro1656=) c.4830A= (p.Pro1610=) c.5016A= (p.Pro1672=) c.4875A= (p.Pro1625=) c.5013A= (p.Pro1671=) c.4971A= (p.Pro1657=) | dbSNP |
| 2 | g.178776897G>A | CA2005240 | TTN | c.4967C>T (p.Pro1656Leu) c.4829C>T (p.Pro1610Leu) c.5015C>T (p.Pro1672Leu) c.4874C>T (p.Pro1625Leu) c.5012C>T (p.Pro1671Leu) c.4970C>T (p.Pro1657Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178776897G>C | CA349458576 | TTN | c.4967C>G (p.Pro1656Arg) c.4829C>G (p.Pro1610Arg) c.5015C>G (p.Pro1672Arg) c.4874C>G (p.Pro1625Arg) c.5012C>G (p.Pro1671Arg) c.4970C>G (p.Pro1657Arg) | |
| 2 | g.178776897G= | CA1310617826 | TTN | c.4967C= (p.Pro1656=) c.4829C= (p.Pro1610=) c.5015C= (p.Pro1672=) c.4874C= (p.Pro1625=) c.5012C= (p.Pro1671=) c.4970C= (p.Pro1657=) | dbSNP |
| 2 | g.178776897G>T | CA349458577 | TTN | c.4967C>A (p.Pro1656Gln) c.4829C>A (p.Pro1610Gln) c.5015C>A (p.Pro1672Gln) c.4874C>A (p.Pro1625Gln) c.5012C>A (p.Pro1671Gln) c.4970C>A (p.Pro1657Gln) | |
| 2 | g.178776898G>A | CA349458588 | TTN | c.4966C>T (p.Pro1656Ser) c.4828C>T (p.Pro1610Ser) c.5014C>T (p.Pro1672Ser) c.4873C>T (p.Pro1625Ser) c.5011C>T (p.Pro1671Ser) c.4969C>T (p.Pro1657Ser) | |
| 2 | g.178776898G>C | CA349458597 | TTN | c.4966C>G (p.Pro1656Ala) c.4828C>G (p.Pro1610Ala) c.5014C>G (p.Pro1672Ala) c.4873C>G (p.Pro1625Ala) c.5011C>G (p.Pro1671Ala) c.4969C>G (p.Pro1657Ala) | |
| 2 | g.178776898G>T | CA349458599 | TTN | c.4966C>A (p.Pro1656Thr) c.4828C>A (p.Pro1610Thr) c.5014C>A (p.Pro1672Thr) c.4873C>A (p.Pro1625Thr) c.5011C>A (p.Pro1671Thr) c.4969C>A (p.Pro1657Thr) | |
| 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=) |