| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178776883T>A | CA349458418 | TTN | c.4981A>T (p.Ile1661Phe) c.4843A>T (p.Ile1615Phe) c.5029A>T (p.Ile1677Phe) c.4888A>T (p.Ile1630Phe) c.5026A>T (p.Ile1676Phe) c.4984A>T (p.Ile1662Phe) | |
| 2 | g.178776883T>C | CA242985 | TTN | c.4981A>G (p.Ile1661Val) c.4843A>G (p.Ile1615Val) c.5029A>G (p.Ile1677Val) c.4888A>G (p.Ile1630Val) c.5026A>G (p.Ile1676Val) c.4984A>G (p.Ile1662Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178776883T>G | CA2005238 | TTN | c.4981A>C (p.Ile1661Leu) c.4843A>C (p.Ile1615Leu) c.5029A>C (p.Ile1677Leu) c.4888A>C (p.Ile1630Leu) c.5026A>C (p.Ile1676Leu) c.4984A>C (p.Ile1662Leu) | dbSNP ExAC gnomAD v2 |
| 2 | g.178776883T= | CA1310617822 | TTN | c.4981A= (p.Ile1661=) c.4843A= (p.Ile1615=) c.5029A= (p.Ile1677=) c.4888A= (p.Ile1630=) c.5026A= (p.Ile1676=) c.4984A= (p.Ile1662=) | dbSNP |
| 2 | g.178776884T>A | CA349458451 | TTN | c.4980A>T (p.Leu1660Phe) c.4842A>T (p.Leu1614Phe) c.5028A>T (p.Leu1676Phe) c.4887A>T (p.Leu1629Phe) c.5025A>T (p.Leu1675Phe) c.4983A>T (p.Leu1661Phe) | |
| 2 | g.178776884T>C | CA430281419 | TTN | c.4980A>G (p.Leu1660=) c.4842A>G (p.Leu1614=) c.5028A>G (p.Leu1676=) c.4887A>G (p.Leu1629=) c.5025A>G (p.Leu1675=) c.4983A>G (p.Leu1661=) | |
| 2 | g.178776884T>G | CA349458455 | TTN | c.4980A>C (p.Leu1660Phe) c.4842A>C (p.Leu1614Phe) c.5028A>C (p.Leu1676Phe) c.4887A>C (p.Leu1629Phe) c.5025A>C (p.Leu1675Phe) c.4983A>C (p.Leu1661Phe) | |
| 2 | g.178776885A= | CA3098920779 | TTN | c.4979T= (p.Leu1660=) c.4841T= (p.Leu1614=) c.5027T= (p.Leu1676=) c.4886T= (p.Leu1629=) c.5024T= (p.Leu1675=) c.4982T= (p.Leu1661=) | dbSNP |
| 2 | g.178776885A>C | CA349458466 | TTN | c.4979T>G (p.Leu1660Ter) c.4841T>G (p.Leu1614Ter) c.5027T>G (p.Leu1676Ter) c.4886T>G (p.Leu1629Ter) c.5024T>G (p.Leu1675Ter) c.4982T>G (p.Leu1661Ter) | ClinVar dbSNP |
| 2 | g.178776885A>G | CA349458468 | TTN | c.4979T>C (p.Leu1660Ser) c.4841T>C (p.Leu1614Ser) c.5027T>C (p.Leu1676Ser) c.4886T>C (p.Leu1629Ser) c.5024T>C (p.Leu1675Ser) c.4982T>C (p.Leu1661Ser) | |
| 2 | g.178776885A>T | CA349458470 | TTN | c.4979T>A (p.Leu1660Ter) c.4841T>A (p.Leu1614Ter) c.5027T>A (p.Leu1676Ter) c.4886T>A (p.Leu1629Ter) c.5024T>A (p.Leu1675Ter) c.4982T>A (p.Leu1661Ter) | |
| 2 | g.178776885_178776886del | CA3054211962 | TTN | c.4978_4979del (p.Leu1660AsnfsTer8) c.4840_4841del (p.Leu1614AsnfsTer8) c.5026_5027del (p.Leu1676AsnfsTer8) c.4885_4886del (p.Leu1629AsnfsTer8) c.5023_5024del (p.Leu1675AsnfsTer8) c.4981_4982del (p.Leu1661AsnfsTer8) | ClinVar |
| 2 | g.178776886A= | CA3098920787 | TTN | c.4978T= (p.Leu1660=) c.4840T= (p.Leu1614=) c.5026T= (p.Leu1676=) c.4885T= (p.Leu1629=) c.5023T= (p.Leu1675=) c.4981T= (p.Leu1661=) | dbSNP |
| 2 | g.178776886A>C | CA349458477 | TTN | c.4978T>G (p.Leu1660Val) c.4840T>G (p.Leu1614Val) c.5026T>G (p.Leu1676Val) c.4885T>G (p.Leu1629Val) c.5023T>G (p.Leu1675Val) c.4981T>G (p.Leu1661Val) | dbSNP gnomAD v4 |
| 2 | g.178776886A>G | CA430281437 | TTN | c.4978T>C (p.Leu1660=) c.4840T>C (p.Leu1614=) c.5026T>C (p.Leu1676=) c.4885T>C (p.Leu1629=) c.5023T>C (p.Leu1675=) c.4981T>C (p.Leu1661=) | |
| 2 | g.178776886A>T | CA349458478 | TTN | c.4978T>A (p.Leu1660Ile) c.4840T>A (p.Leu1614Ile) c.5026T>A (p.Leu1676Ile) c.4885T>A (p.Leu1629Ile) c.5023T>A (p.Leu1675Ile) c.4981T>A (p.Leu1661Ile) | |
| 2 | g.178776887C>A | CA349458486 | TTN | c.4977G>T (p.Lys1659Asn) c.4839G>T (p.Lys1613Asn) c.5025G>T (p.Lys1675Asn) c.4884G>T (p.Lys1628Asn) c.5022G>T (p.Lys1674Asn) c.4980G>T (p.Lys1660Asn) | |
| 2 | g.178776887C>G | CA349458485 | TTN | c.4977G>C (p.Lys1659Asn) c.4839G>C (p.Lys1613Asn) c.5025G>C (p.Lys1675Asn) c.4884G>C (p.Lys1628Asn) c.5022G>C (p.Lys1674Asn) c.4980G>C (p.Lys1660Asn) | |
| 2 | g.178776887C>T | CA430281440 | TTN | c.4977G>A (p.Lys1659=) c.4839G>A (p.Lys1613=) c.5025G>A (p.Lys1675=) c.4884G>A (p.Lys1628=) c.5022G>A (p.Lys1674=) c.4980G>A (p.Lys1660=) | ClinVar |
| 2 | g.178776888T>A | CA349458499 | TTN | c.4976A>T (p.Lys1659Met) c.4838A>T (p.Lys1613Met) c.5024A>T (p.Lys1675Met) c.4883A>T (p.Lys1628Met) c.5021A>T (p.Lys1674Met) c.4979A>T (p.Lys1660Met) | |
| 2 | g.178776888T>C | CA349458507 | TTN | c.4976A>G (p.Lys1659Arg) c.4838A>G (p.Lys1613Arg) c.5024A>G (p.Lys1675Arg) c.4883A>G (p.Lys1628Arg) c.5021A>G (p.Lys1674Arg) c.4979A>G (p.Lys1660Arg) | |
| 2 | g.178776888T>G | CA349458510 | TTN | c.4976A>C (p.Lys1659Thr) c.4838A>C (p.Lys1613Thr) c.5024A>C (p.Lys1675Thr) c.4883A>C (p.Lys1628Thr) c.5021A>C (p.Lys1674Thr) c.4979A>C (p.Lys1660Thr) | |
| 2 | g.178776889T>A | CA349458511 | TTN | c.4975A>T (p.Lys1659Ter) c.4837A>T (p.Lys1613Ter) c.5023A>T (p.Lys1675Ter) c.4882A>T (p.Lys1628Ter) c.5020A>T (p.Lys1674Ter) c.4978A>T (p.Lys1660Ter) | |
| 2 | g.178776889T>C | CA349458512 | TTN | c.4975A>G (p.Lys1659Glu) c.4837A>G (p.Lys1613Glu) c.5023A>G (p.Lys1675Glu) c.4882A>G (p.Lys1628Glu) c.5020A>G (p.Lys1674Glu) c.4978A>G (p.Lys1660Glu) | |
| 2 | g.178776889T>G | CA349458514 | TTN | c.4975A>C (p.Lys1659Gln) c.4837A>C (p.Lys1613Gln) c.5023A>C (p.Lys1675Gln) c.4882A>C (p.Lys1628Gln) c.5020A>C (p.Lys1674Gln) c.4978A>C (p.Lys1660Gln) | |
| 2 | g.178776890T>A | CA349458518 | TTN | c.4974A>T (p.Arg1658Ser) c.4836A>T (p.Arg1612Ser) c.5022A>T (p.Arg1674Ser) c.4881A>T (p.Arg1627Ser) c.5019A>T (p.Arg1673Ser) c.4977A>T (p.Arg1659Ser) | |
| 2 | g.178776890T>C | CA430281453 | TTN | c.4974A>G (p.Arg1658=) c.4836A>G (p.Arg1612=) c.5022A>G (p.Arg1674=) c.4881A>G (p.Arg1627=) c.5019A>G (p.Arg1673=) c.4977A>G (p.Arg1659=) | |
| 2 | g.178776890T>G | CA349458522 | TTN | c.4974A>C (p.Arg1658Ser) c.4836A>C (p.Arg1612Ser) c.5022A>C (p.Arg1674Ser) c.4881A>C (p.Arg1627Ser) c.5019A>C (p.Arg1673Ser) c.4977A>C (p.Arg1659Ser) | |
| 2 | g.178776891C>A | CA349458528 | TTN | c.4973G>T (p.Arg1658Ile) c.4835G>T (p.Arg1612Ile) c.5021G>T (p.Arg1674Ile) c.4880G>T (p.Arg1627Ile) c.5018G>T (p.Arg1673Ile) c.4976G>T (p.Arg1659Ile) | |
| 2 | g.178776891C>G | CA349458531 | TTN | c.4973G>C (p.Arg1658Thr) c.4835G>C (p.Arg1612Thr) c.5021G>C (p.Arg1674Thr) c.4880G>C (p.Arg1627Thr) c.5018G>C (p.Arg1673Thr) c.4976G>C (p.Arg1659Thr) | |
| 2 | g.178776891C>T | CA349458533 | TTN | c.4973G>A (p.Arg1658Lys) c.4835G>A (p.Arg1612Lys) c.5021G>A (p.Arg1674Lys) c.4880G>A (p.Arg1627Lys) c.5018G>A (p.Arg1673Lys) c.4976G>A (p.Arg1659Lys) | |
| 2 | g.178776892T>A | CA349458537 | TTN | c.4972A>T (p.Arg1658Ter) c.4834A>T (p.Arg1612Ter) c.5020A>T (p.Arg1674Ter) c.4879A>T (p.Arg1627Ter) c.5017A>T (p.Arg1673Ter) c.4975A>T (p.Arg1659Ter) | ClinVar |
| 2 | g.178776892T>C | CA2005239 | TTN | c.4972A>G (p.Arg1658Gly) c.4834A>G (p.Arg1612Gly) c.5020A>G (p.Arg1674Gly) c.4879A>G (p.Arg1627Gly) c.5017A>G (p.Arg1673Gly) c.4975A>G (p.Arg1659Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178776892T>G | CA430281464 | TTN | c.4972A>C (p.Arg1658=) c.4834A>C (p.Arg1612=) c.5020A>C (p.Arg1674=) c.4879A>C (p.Arg1627=) c.5017A>C (p.Arg1673=) c.4975A>C (p.Arg1659=) | |
| 2 | g.178776892T= | CA1310617823 | TTN | c.4972A= (p.Arg1658=) c.4834A= (p.Arg1612=) c.5020A= (p.Arg1674=) c.4879A= (p.Arg1627=) c.5017A= (p.Arg1673=) c.4975A= (p.Arg1659=) | dbSNP |
| 2 | g.178776893C>A | CA349458547 | TTN | c.4971G>T (p.Glu1657Asp) c.4833G>T (p.Glu1611Asp) c.5019G>T (p.Glu1673Asp) c.4878G>T (p.Glu1626Asp) c.5016G>T (p.Glu1672Asp) c.4974G>T (p.Glu1658Asp) | |
| 2 | g.178776893C= | CA1310617824 | TTN | c.4971G= (p.Glu1657=) c.4833G= (p.Glu1611=) c.5019G= (p.Glu1673=) c.4878G= (p.Glu1626=) c.5016G= (p.Glu1672=) c.4974G= (p.Glu1658=) | dbSNP |
| 2 | g.178776893C>G | CA349458543 | TTN | c.4971G>C (p.Glu1657Asp) c.4833G>C (p.Glu1611Asp) c.5019G>C (p.Glu1673Asp) c.4878G>C (p.Glu1626Asp) c.5016G>C (p.Glu1672Asp) c.4974G>C (p.Glu1658Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178776893C>T | CA430281470 | TTN | c.4971G>A (p.Glu1657=) c.4833G>A (p.Glu1611=) c.5019G>A (p.Glu1673=) c.4878G>A (p.Glu1626=) c.5016G>A (p.Glu1672=) c.4974G>A (p.Glu1658=) | ClinVar dbSNP |
| 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) | 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=) |