| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178574031T>A | CA349648560 | TTN,TTN-AS1 | c.64397A>T (p.Lys21466Ile) c.45482A>T (p.Lys15161Ile) c.45281A>T (p.Lys15094Ile) c.44906A>T (p.Lys14969Ile) c.72101A>T (p.Lys24034Ile) c.67178A>T (p.Lys22393Ile) n.596+2582T>A n.2044-8541T>A c.71198A>T (p.Lys23733Ile) c.45092A>T (p.Lys15031Ile) c.44951A>T (p.Lys14984Ile) c.70994A>T (p.Lys23665Ile) c.66392A>T (p.Lys22131Ile) c.66389A>T (p.Lys22130Ile) c.63431A>T (p.Lys21144Ile) c.45047A>T (p.Lys15016Ile) c.66542A>T (p.Lys22181Ile) c.66539A>T (p.Lys22180Ile) c.65972A>T (p.Lys21991Ile) c.63314A>T (p.Lys21105Ile) c.63233A>T (p.Lys21078Ile) c.44996A>T (p.Lys14999Ile) c.34850A>T (p.Lys11617Ile) | |
| 2 | g.178574031T>C | CA349648558 | TTN,TTN-AS1 | c.64397A>G (p.Lys21466Arg) c.45482A>G (p.Lys15161Arg) c.45281A>G (p.Lys15094Arg) c.44906A>G (p.Lys14969Arg) c.72101A>G (p.Lys24034Arg) c.67178A>G (p.Lys22393Arg) n.596+2582T>C n.2044-8541T>C c.71198A>G (p.Lys23733Arg) c.45092A>G (p.Lys15031Arg) c.44951A>G (p.Lys14984Arg) c.70994A>G (p.Lys23665Arg) c.66392A>G (p.Lys22131Arg) c.66389A>G (p.Lys22130Arg) c.63431A>G (p.Lys21144Arg) c.45047A>G (p.Lys15016Arg) c.66542A>G (p.Lys22181Arg) c.66539A>G (p.Lys22180Arg) c.65972A>G (p.Lys21991Arg) c.63314A>G (p.Lys21105Arg) c.63233A>G (p.Lys21078Arg) c.44996A>G (p.Lys14999Arg) c.34850A>G (p.Lys11617Arg) | |
| 2 | g.178574031T>G | CA349648557 | TTN,TTN-AS1 | c.64397A>C (p.Lys21466Thr) c.45482A>C (p.Lys15161Thr) c.45281A>C (p.Lys15094Thr) c.44906A>C (p.Lys14969Thr) c.72101A>C (p.Lys24034Thr) c.67178A>C (p.Lys22393Thr) n.596+2582T>G n.2044-8541T>G c.71198A>C (p.Lys23733Thr) c.45092A>C (p.Lys15031Thr) c.44951A>C (p.Lys14984Thr) c.70994A>C (p.Lys23665Thr) c.66392A>C (p.Lys22131Thr) c.66389A>C (p.Lys22130Thr) c.63431A>C (p.Lys21144Thr) c.45047A>C (p.Lys15016Thr) c.66542A>C (p.Lys22181Thr) c.66539A>C (p.Lys22180Thr) c.65972A>C (p.Lys21991Thr) c.63314A>C (p.Lys21105Thr) c.63233A>C (p.Lys21078Thr) c.44996A>C (p.Lys14999Thr) c.34850A>C (p.Lys11617Thr) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178574032T>A | CA349648564 | TTN,TTN-AS1 | c.64396A>T (p.Lys21466Ter) c.45481A>T (p.Lys15161Ter) c.45280A>T (p.Lys15094Ter) c.44905A>T (p.Lys14969Ter) c.72100A>T (p.Lys24034Ter) c.67177A>T (p.Lys22393Ter) n.596+2583T>A n.2044-8540T>A c.71197A>T (p.Lys23733Ter) c.45091A>T (p.Lys15031Ter) c.44950A>T (p.Lys14984Ter) c.70993A>T (p.Lys23665Ter) c.66391A>T (p.Lys22131Ter) c.66388A>T (p.Lys22130Ter) c.63430A>T (p.Lys21144Ter) c.45046A>T (p.Lys15016Ter) c.66541A>T (p.Lys22181Ter) c.66538A>T (p.Lys22180Ter) c.65971A>T (p.Lys21991Ter) c.63313A>T (p.Lys21105Ter) c.63232A>T (p.Lys21078Ter) c.44995A>T (p.Lys14999Ter) c.34849A>T (p.Lys11617Ter) | |
| 2 | g.178574032T>C | CA349648567 | TTN,TTN-AS1 | c.64396A>G (p.Lys21466Glu) c.45481A>G (p.Lys15161Glu) c.45280A>G (p.Lys15094Glu) c.44905A>G (p.Lys14969Glu) c.72100A>G (p.Lys24034Glu) c.67177A>G (p.Lys22393Glu) n.596+2583T>C n.2044-8540T>C c.71197A>G (p.Lys23733Glu) c.45091A>G (p.Lys15031Glu) c.44950A>G (p.Lys14984Glu) c.70993A>G (p.Lys23665Glu) c.66391A>G (p.Lys22131Glu) c.66388A>G (p.Lys22130Glu) c.63430A>G (p.Lys21144Glu) c.45046A>G (p.Lys15016Glu) c.66541A>G (p.Lys22181Glu) c.66538A>G (p.Lys22180Glu) c.65971A>G (p.Lys21991Glu) c.63313A>G (p.Lys21105Glu) c.63232A>G (p.Lys21078Glu) c.44995A>G (p.Lys14999Glu) c.34849A>G (p.Lys11617Glu) | |
| 2 | g.178574032T>G | CA349648568 | TTN,TTN-AS1 | c.64396A>C (p.Lys21466Gln) c.45481A>C (p.Lys15161Gln) c.45280A>C (p.Lys15094Gln) c.44905A>C (p.Lys14969Gln) c.72100A>C (p.Lys24034Gln) c.67177A>C (p.Lys22393Gln) n.596+2583T>G n.2044-8540T>G c.71197A>C (p.Lys23733Gln) c.45091A>C (p.Lys15031Gln) c.44950A>C (p.Lys14984Gln) c.70993A>C (p.Lys23665Gln) c.66391A>C (p.Lys22131Gln) c.66388A>C (p.Lys22130Gln) c.63430A>C (p.Lys21144Gln) c.45046A>C (p.Lys15016Gln) c.66541A>C (p.Lys22181Gln) c.66538A>C (p.Lys22180Gln) c.65971A>C (p.Lys21991Gln) c.63313A>C (p.Lys21105Gln) c.63232A>C (p.Lys21078Gln) c.44995A>C (p.Lys14999Gln) c.34849A>C (p.Lys11617Gln) | |
| 2 | g.178574033A>C | CA430257098 | TTN,TTN-AS1 | c.64395T>G (p.Val21465=) c.45480T>G (p.Val15160=) c.45279T>G (p.Val15093=) c.44904T>G (p.Val14968=) c.72099T>G (p.Val24033=) c.67176T>G (p.Val22392=) n.596+2584A>C n.2044-8539A>C c.71196T>G (p.Val23732=) c.45090T>G (p.Val15030=) c.44949T>G (p.Val14983=) c.70992T>G (p.Val23664=) c.66390T>G (p.Val22130=) c.66387T>G (p.Val22129=) c.63429T>G (p.Val21143=) c.45045T>G (p.Val15015=) c.66540T>G (p.Val22180=) c.66537T>G (p.Val22179=) c.65970T>G (p.Val21990=) c.63312T>G (p.Val21104=) c.63231T>G (p.Val21077=) c.44994T>G (p.Val14998=) c.34848T>G (p.Val11616=) | |
| 2 | g.178574033A>G | CA430257102 | TTN,TTN-AS1 | c.64395T>C (p.Val21465=) c.45480T>C (p.Val15160=) c.45279T>C (p.Val15093=) c.44904T>C (p.Val14968=) c.72099T>C (p.Val24033=) c.67176T>C (p.Val22392=) n.596+2584A>G n.2044-8539A>G c.71196T>C (p.Val23732=) c.45090T>C (p.Val15030=) c.44949T>C (p.Val14983=) c.70992T>C (p.Val23664=) c.66390T>C (p.Val22130=) c.66387T>C (p.Val22129=) c.63429T>C (p.Val21143=) c.45045T>C (p.Val15015=) c.66540T>C (p.Val22180=) c.66537T>C (p.Val22179=) c.65970T>C (p.Val21990=) c.63312T>C (p.Val21104=) c.63231T>C (p.Val21077=) c.44994T>C (p.Val14998=) c.34848T>C (p.Val11616=) | gnomAD v4 |
| 2 | g.178574033A>T | CA430257100 | TTN,TTN-AS1 | c.64395T>A (p.Val21465=) c.45480T>A (p.Val15160=) c.45279T>A (p.Val15093=) c.44904T>A (p.Val14968=) c.72099T>A (p.Val24033=) c.67176T>A (p.Val22392=) n.596+2584A>T n.2044-8539A>T c.71196T>A (p.Val23732=) c.45090T>A (p.Val15030=) c.44949T>A (p.Val14983=) c.70992T>A (p.Val23664=) c.66390T>A (p.Val22130=) c.66387T>A (p.Val22129=) c.63429T>A (p.Val21143=) c.45045T>A (p.Val15015=) c.66540T>A (p.Val22180=) c.66537T>A (p.Val22179=) c.65970T>A (p.Val21990=) c.63312T>A (p.Val21104=) c.63231T>A (p.Val21077=) c.44994T>A (p.Val14998=) c.34848T>A (p.Val11616=) | |
| 2 | g.178574034A>C | CA349648571 | TTN,TTN-AS1 | c.64394T>G (p.Val21465Gly) c.45479T>G (p.Val15160Gly) c.45278T>G (p.Val15093Gly) c.44903T>G (p.Val14968Gly) c.72098T>G (p.Val24033Gly) c.67175T>G (p.Val22392Gly) n.596+2585A>C n.2044-8538A>C c.71195T>G (p.Val23732Gly) c.45089T>G (p.Val15030Gly) c.44948T>G (p.Val14983Gly) c.70991T>G (p.Val23664Gly) c.66389T>G (p.Val22130Gly) c.66386T>G (p.Val22129Gly) c.63428T>G (p.Val21143Gly) c.45044T>G (p.Val15015Gly) c.66539T>G (p.Val22180Gly) c.66536T>G (p.Val22179Gly) c.65969T>G (p.Val21990Gly) c.63311T>G (p.Val21104Gly) c.63230T>G (p.Val21077Gly) c.44993T>G (p.Val14998Gly) c.34847T>G (p.Val11616Gly) | |
| 2 | g.178574034A>G | CA349648572 | TTN,TTN-AS1 | c.64394T>C (p.Val21465Ala) c.45479T>C (p.Val15160Ala) c.45278T>C (p.Val15093Ala) c.44903T>C (p.Val14968Ala) c.72098T>C (p.Val24033Ala) c.67175T>C (p.Val22392Ala) n.596+2585A>G n.2044-8538A>G c.71195T>C (p.Val23732Ala) c.45089T>C (p.Val15030Ala) c.44948T>C (p.Val14983Ala) c.70991T>C (p.Val23664Ala) c.66389T>C (p.Val22130Ala) c.66386T>C (p.Val22129Ala) c.63428T>C (p.Val21143Ala) c.45044T>C (p.Val15015Ala) c.66539T>C (p.Val22180Ala) c.66536T>C (p.Val22179Ala) c.65969T>C (p.Val21990Ala) c.63311T>C (p.Val21104Ala) c.63230T>C (p.Val21077Ala) c.44993T>C (p.Val14998Ala) c.34847T>C (p.Val11616Ala) | |
| 2 | g.178574034A>T | CA349648574 | TTN,TTN-AS1 | c.64394T>A (p.Val21465Asp) c.45479T>A (p.Val15160Asp) c.45278T>A (p.Val15093Asp) c.44903T>A (p.Val14968Asp) c.72098T>A (p.Val24033Asp) c.67175T>A (p.Val22392Asp) n.596+2585A>T n.2044-8538A>T c.71195T>A (p.Val23732Asp) c.45089T>A (p.Val15030Asp) c.44948T>A (p.Val14983Asp) c.70991T>A (p.Val23664Asp) c.66389T>A (p.Val22130Asp) c.66386T>A (p.Val22129Asp) c.63428T>A (p.Val21143Asp) c.45044T>A (p.Val15015Asp) c.66539T>A (p.Val22180Asp) c.66536T>A (p.Val22179Asp) c.65969T>A (p.Val21990Asp) c.63311T>A (p.Val21104Asp) c.63230T>A (p.Val21077Asp) c.44993T>A (p.Val14998Asp) c.34847T>A (p.Val11616Asp) | |
| 2 | g.178574035C>A | CA349648576 | TTN,TTN-AS1 | c.64393G>T (p.Val21465Phe) c.45478G>T (p.Val15160Phe) c.45277G>T (p.Val15093Phe) c.44902G>T (p.Val14968Phe) c.72097G>T (p.Val24033Phe) c.67174G>T (p.Val22392Phe) n.596+2586C>A n.2044-8537C>A c.71194G>T (p.Val23732Phe) c.45088G>T (p.Val15030Phe) c.44947G>T (p.Val14983Phe) c.70990G>T (p.Val23664Phe) c.66388G>T (p.Val22130Phe) c.66385G>T (p.Val22129Phe) c.63427G>T (p.Val21143Phe) c.45043G>T (p.Val15015Phe) c.66538G>T (p.Val22180Phe) c.66535G>T (p.Val22179Phe) c.65968G>T (p.Val21990Phe) c.63310G>T (p.Val21104Phe) c.63229G>T (p.Val21077Phe) c.44992G>T (p.Val14998Phe) c.34846G>T (p.Val11616Phe) | |
| 2 | g.178574035C= | CA1310532379 | TTN,TTN-AS1 | c.64393G= (p.Val21465=) c.45478G= (p.Val15160=) c.45277G= (p.Val15093=) c.44902G= (p.Val14968=) c.72097G= (p.Val24033=) c.67174G= (p.Val22392=) n.596+2586C= n.2044-8537C= c.71194G= (p.Val23732=) c.45088G= (p.Val15030=) c.44947G= (p.Val14983=) c.70990G= (p.Val23664=) c.66388G= (p.Val22130=) c.66385G= (p.Val22129=) c.63427G= (p.Val21143=) c.45043G= (p.Val15015=) c.66538G= (p.Val22180=) c.66535G= (p.Val22179=) c.65968G= (p.Val21990=) c.63310G= (p.Val21104=) c.63229G= (p.Val21077=) c.44992G= (p.Val14998=) c.34846G= (p.Val11616=) | |
| 2 | g.178574035C>G | CA349648578 | TTN,TTN-AS1 | c.64393G>C (p.Val21465Leu) c.45478G>C (p.Val15160Leu) c.45277G>C (p.Val15093Leu) c.44902G>C (p.Val14968Leu) c.72097G>C (p.Val24033Leu) c.67174G>C (p.Val22392Leu) n.596+2586C>G n.2044-8537C>G c.71194G>C (p.Val23732Leu) c.45088G>C (p.Val15030Leu) c.44947G>C (p.Val14983Leu) c.70990G>C (p.Val23664Leu) c.66388G>C (p.Val22130Leu) c.66385G>C (p.Val22129Leu) c.63427G>C (p.Val21143Leu) c.45043G>C (p.Val15015Leu) c.66538G>C (p.Val22180Leu) c.66535G>C (p.Val22179Leu) c.65968G>C (p.Val21990Leu) c.63310G>C (p.Val21104Leu) c.63229G>C (p.Val21077Leu) c.44992G>C (p.Val14998Leu) c.34846G>C (p.Val11616Leu) | |
| 2 | g.178574035C>T | CA61000365 | TTN,TTN-AS1 | c.64393G>A (p.Val21465Ile) c.45478G>A (p.Val15160Ile) c.45277G>A (p.Val15093Ile) c.44902G>A (p.Val14968Ile) c.72097G>A (p.Val24033Ile) c.67174G>A (p.Val22392Ile) n.596+2586C>T n.2044-8537C>T c.71194G>A (p.Val23732Ile) c.45088G>A (p.Val15030Ile) c.44947G>A (p.Val14983Ile) c.70990G>A (p.Val23664Ile) c.66388G>A (p.Val22130Ile) c.66385G>A (p.Val22129Ile) c.63427G>A (p.Val21143Ile) c.45043G>A (p.Val15015Ile) c.66538G>A (p.Val22180Ile) c.66535G>A (p.Val22179Ile) c.65968G>A (p.Val21990Ile) c.63310G>A (p.Val21104Ile) c.63229G>A (p.Val21077Ile) c.44992G>A (p.Val14998Ile) c.34846G>A (p.Val11616Ile) | dbSNP gnomAD v4 |
| 2 | g.178574036A= | CA1310532380 | TTN,TTN-AS1 | c.64392T= (p.Asp21464=) c.45477T= (p.Asp15159=) c.45276T= (p.Asp15092=) c.44901T= (p.Asp14967=) c.72096T= (p.Asp24032=) c.67173T= (p.Asp22391=) n.596+2587A= n.2044-8536A= c.71193T= (p.Asp23731=) c.45087T= (p.Asp15029=) c.44946T= (p.Asp14982=) c.70989T= (p.Asp23663=) c.66387T= (p.Asp22129=) c.66384T= (p.Asp22128=) c.63426T= (p.Asp21142=) c.45042T= (p.Asp15014=) c.66537T= (p.Asp22179=) c.66534T= (p.Asp22178=) c.65967T= (p.Asp21989=) c.63309T= (p.Asp21103=) c.63228T= (p.Asp21076=) c.44991T= (p.Asp14997=) c.34845T= (p.Asp11615=) | |
| 2 | g.178574036A>C | CA349648581 | TTN,TTN-AS1 | c.64392T>G (p.Asp21464Glu) c.45477T>G (p.Asp15159Glu) c.45276T>G (p.Asp15092Glu) c.44901T>G (p.Asp14967Glu) c.72096T>G (p.Asp24032Glu) c.67173T>G (p.Asp22391Glu) n.596+2587A>C n.2044-8536A>C c.71193T>G (p.Asp23731Glu) c.45087T>G (p.Asp15029Glu) c.44946T>G (p.Asp14982Glu) c.70989T>G (p.Asp23663Glu) c.66387T>G (p.Asp22129Glu) c.66384T>G (p.Asp22128Glu) c.63426T>G (p.Asp21142Glu) c.45042T>G (p.Asp15014Glu) c.66537T>G (p.Asp22179Glu) c.66534T>G (p.Asp22178Glu) c.65967T>G (p.Asp21989Glu) c.63309T>G (p.Asp21103Glu) c.63228T>G (p.Asp21076Glu) c.44991T>G (p.Asp14997Glu) c.34845T>G (p.Asp11615Glu) | |
| 2 | g.178574036A>G | CA430257115 | TTN,TTN-AS1 | c.64392T>C (p.Asp21464=) c.45477T>C (p.Asp15159=) c.45276T>C (p.Asp15092=) c.44901T>C (p.Asp14967=) c.72096T>C (p.Asp24032=) c.67173T>C (p.Asp22391=) n.596+2587A>G n.2044-8536A>G c.71193T>C (p.Asp23731=) c.45087T>C (p.Asp15029=) c.44946T>C (p.Asp14982=) c.70989T>C (p.Asp23663=) c.66387T>C (p.Asp22129=) c.66384T>C (p.Asp22128=) c.63426T>C (p.Asp21142=) c.45042T>C (p.Asp15014=) c.66537T>C (p.Asp22179=) c.66534T>C (p.Asp22178=) c.65967T>C (p.Asp21989=) c.63309T>C (p.Asp21103=) c.63228T>C (p.Asp21076=) c.44991T>C (p.Asp14997=) c.34845T>C (p.Asp11615=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178574036A>T | CA349648582 | TTN,TTN-AS1 | c.64392T>A (p.Asp21464Glu) c.45477T>A (p.Asp15159Glu) c.45276T>A (p.Asp15092Glu) c.44901T>A (p.Asp14967Glu) c.72096T>A (p.Asp24032Glu) c.67173T>A (p.Asp22391Glu) n.596+2587A>T n.2044-8536A>T c.71193T>A (p.Asp23731Glu) c.45087T>A (p.Asp15029Glu) c.44946T>A (p.Asp14982Glu) c.70989T>A (p.Asp23663Glu) c.66387T>A (p.Asp22129Glu) c.66384T>A (p.Asp22128Glu) c.63426T>A (p.Asp21142Glu) c.45042T>A (p.Asp15014Glu) c.66537T>A (p.Asp22179Glu) c.66534T>A (p.Asp22178Glu) c.65967T>A (p.Asp21989Glu) c.63309T>A (p.Asp21103Glu) c.63228T>A (p.Asp21076Glu) c.44991T>A (p.Asp14997Glu) c.34845T>A (p.Asp11615Glu) | |
| 2 | g.178574037T>A | CA349648588 | TTN,TTN-AS1 | c.64391A>T (p.Asp21464Val) c.45476A>T (p.Asp15159Val) c.45275A>T (p.Asp15092Val) c.44900A>T (p.Asp14967Val) c.72095A>T (p.Asp24032Val) c.67172A>T (p.Asp22391Val) n.596+2588T>A n.2044-8535T>A c.71192A>T (p.Asp23731Val) c.45086A>T (p.Asp15029Val) c.44945A>T (p.Asp14982Val) c.70988A>T (p.Asp23663Val) c.66386A>T (p.Asp22129Val) c.66383A>T (p.Asp22128Val) c.63425A>T (p.Asp21142Val) c.45041A>T (p.Asp15014Val) c.66536A>T (p.Asp22179Val) c.66533A>T (p.Asp22178Val) c.65966A>T (p.Asp21989Val) c.63308A>T (p.Asp21103Val) c.63227A>T (p.Asp21076Val) c.44990A>T (p.Asp14997Val) c.34844A>T (p.Asp11615Val) | |
| 2 | g.178574037T>C | CA349648586 | TTN,TTN-AS1 | c.64391A>G (p.Asp21464Gly) c.45476A>G (p.Asp15159Gly) c.45275A>G (p.Asp15092Gly) c.44900A>G (p.Asp14967Gly) c.72095A>G (p.Asp24032Gly) c.67172A>G (p.Asp22391Gly) n.596+2588T>C n.2044-8535T>C c.71192A>G (p.Asp23731Gly) c.45086A>G (p.Asp15029Gly) c.44945A>G (p.Asp14982Gly) c.70988A>G (p.Asp23663Gly) c.66386A>G (p.Asp22129Gly) c.66383A>G (p.Asp22128Gly) c.63425A>G (p.Asp21142Gly) c.45041A>G (p.Asp15014Gly) c.66536A>G (p.Asp22179Gly) c.66533A>G (p.Asp22178Gly) c.65966A>G (p.Asp21989Gly) c.63308A>G (p.Asp21103Gly) c.63227A>G (p.Asp21076Gly) c.44990A>G (p.Asp14997Gly) c.34844A>G (p.Asp11615Gly) | dbSNP gnomAD v4 |
| 2 | g.178574037T>G | CA349648584 | TTN,TTN-AS1 | c.64391A>C (p.Asp21464Ala) c.45476A>C (p.Asp15159Ala) c.45275A>C (p.Asp15092Ala) c.44900A>C (p.Asp14967Ala) c.72095A>C (p.Asp24032Ala) c.67172A>C (p.Asp22391Ala) n.596+2588T>G n.2044-8535T>G c.71192A>C (p.Asp23731Ala) c.45086A>C (p.Asp15029Ala) c.44945A>C (p.Asp14982Ala) c.70988A>C (p.Asp23663Ala) c.66386A>C (p.Asp22129Ala) c.66383A>C (p.Asp22128Ala) c.63425A>C (p.Asp21142Ala) c.45041A>C (p.Asp15014Ala) c.66536A>C (p.Asp22179Ala) c.66533A>C (p.Asp22178Ala) c.65966A>C (p.Asp21989Ala) c.63308A>C (p.Asp21103Ala) c.63227A>C (p.Asp21076Ala) c.44990A>C (p.Asp14997Ala) c.34844A>C (p.Asp11615Ala) | |
| 2 | g.178574037T= | CA1310532381 | TTN,TTN-AS1 | c.64391A= (p.Asp21464=) c.45476A= (p.Asp15159=) c.45275A= (p.Asp15092=) c.44900A= (p.Asp14967=) c.72095A= (p.Asp24032=) c.67172A= (p.Asp22391=) n.596+2588T= n.2044-8535T= c.71192A= (p.Asp23731=) c.45086A= (p.Asp15029=) c.44945A= (p.Asp14982=) c.70988A= (p.Asp23663=) c.66386A= (p.Asp22129=) c.66383A= (p.Asp22128=) c.63425A= (p.Asp21142=) c.45041A= (p.Asp15014=) c.66536A= (p.Asp22179=) c.66533A= (p.Asp22178=) c.65966A= (p.Asp21989=) c.63308A= (p.Asp21103=) c.63227A= (p.Asp21076=) c.44990A= (p.Asp14997=) c.34844A= (p.Asp11615=) | |
| 2 | g.178574038C>A | CA349648590 | TTN,TTN-AS1 | c.64390G>T (p.Asp21464Tyr) c.45475G>T (p.Asp15159Tyr) c.45274G>T (p.Asp15092Tyr) c.44899G>T (p.Asp14967Tyr) c.72094G>T (p.Asp24032Tyr) c.67171G>T (p.Asp22391Tyr) n.596+2589C>A n.2044-8534C>A c.71191G>T (p.Asp23731Tyr) c.45085G>T (p.Asp15029Tyr) c.44944G>T (p.Asp14982Tyr) c.70987G>T (p.Asp23663Tyr) c.66385G>T (p.Asp22129Tyr) c.66382G>T (p.Asp22128Tyr) c.63424G>T (p.Asp21142Tyr) c.45040G>T (p.Asp15014Tyr) c.66535G>T (p.Asp22179Tyr) c.66532G>T (p.Asp22178Tyr) c.65965G>T (p.Asp21989Tyr) c.63307G>T (p.Asp21103Tyr) c.63226G>T (p.Asp21076Tyr) c.44989G>T (p.Asp14997Tyr) c.34843G>T (p.Asp11615Tyr) | |
| 2 | g.178574038C>G | CA349648592 | TTN,TTN-AS1 | c.64390G>C (p.Asp21464His) c.45475G>C (p.Asp15159His) c.45274G>C (p.Asp15092His) c.44899G>C (p.Asp14967His) c.72094G>C (p.Asp24032His) c.67171G>C (p.Asp22391His) n.596+2589C>G n.2044-8534C>G c.71191G>C (p.Asp23731His) c.45085G>C (p.Asp15029His) c.44944G>C (p.Asp14982His) c.70987G>C (p.Asp23663His) c.66385G>C (p.Asp22129His) c.66382G>C (p.Asp22128His) c.63424G>C (p.Asp21142His) c.45040G>C (p.Asp15014His) c.66535G>C (p.Asp22179His) c.66532G>C (p.Asp22178His) c.65965G>C (p.Asp21989His) c.63307G>C (p.Asp21103His) c.63226G>C (p.Asp21076His) c.44989G>C (p.Asp14997His) c.34843G>C (p.Asp11615His) | |
| 2 | g.178574038C>T | CA349648594 | TTN,TTN-AS1 | c.64390G>A (p.Asp21464Asn) c.45475G>A (p.Asp15159Asn) c.45274G>A (p.Asp15092Asn) c.44899G>A (p.Asp14967Asn) c.72094G>A (p.Asp24032Asn) c.67171G>A (p.Asp22391Asn) n.596+2589C>T n.2044-8534C>T c.71191G>A (p.Asp23731Asn) c.45085G>A (p.Asp15029Asn) c.44944G>A (p.Asp14982Asn) c.70987G>A (p.Asp23663Asn) c.66385G>A (p.Asp22129Asn) c.66382G>A (p.Asp22128Asn) c.63424G>A (p.Asp21142Asn) c.45040G>A (p.Asp15014Asn) c.66535G>A (p.Asp22179Asn) c.66532G>A (p.Asp22178Asn) c.65965G>A (p.Asp21989Asn) c.63307G>A (p.Asp21103Asn) c.63226G>A (p.Asp21076Asn) c.44989G>A (p.Asp14997Asn) c.34843G>A (p.Asp11615Asn) | gnomAD v4 |
| 2 | g.178574039C>A | CA430257123 | TTN,TTN-AS1 | c.64389G>T (p.Val21463=) c.45474G>T (p.Val15158=) c.45273G>T (p.Val15091=) c.44898G>T (p.Val14966=) c.72093G>T (p.Val24031=) c.67170G>T (p.Val22390=) n.596+2590C>A n.2044-8533C>A c.71190G>T (p.Val23730=) c.45084G>T (p.Val15028=) c.44943G>T (p.Val14981=) c.70986G>T (p.Val23662=) c.66384G>T (p.Val22128=) c.66381G>T (p.Val22127=) c.63423G>T (p.Val21141=) c.45039G>T (p.Val15013=) c.66534G>T (p.Val22178=) c.66531G>T (p.Val22177=) c.65964G>T (p.Val21988=) c.63306G>T (p.Val21102=) c.63225G>T (p.Val21075=) c.44988G>T (p.Val14996=) c.34842G>T (p.Val11614=) | |
| 2 | g.178574039C>G | CA430257125 | TTN,TTN-AS1 | c.64389G>C (p.Val21463=) c.45474G>C (p.Val15158=) c.45273G>C (p.Val15091=) c.44898G>C (p.Val14966=) c.72093G>C (p.Val24031=) c.67170G>C (p.Val22390=) n.596+2590C>G n.2044-8533C>G c.71190G>C (p.Val23730=) c.45084G>C (p.Val15028=) c.44943G>C (p.Val14981=) c.70986G>C (p.Val23662=) c.66384G>C (p.Val22128=) c.66381G>C (p.Val22127=) c.63423G>C (p.Val21141=) c.45039G>C (p.Val15013=) c.66534G>C (p.Val22178=) c.66531G>C (p.Val22177=) c.65964G>C (p.Val21988=) c.63306G>C (p.Val21102=) c.63225G>C (p.Val21075=) c.44988G>C (p.Val14996=) c.34842G>C (p.Val11614=) | |
| 2 | g.178574039C>T | CA430257128 | TTN,TTN-AS1 | c.64389G>A (p.Val21463=) c.45474G>A (p.Val15158=) c.45273G>A (p.Val15091=) c.44898G>A (p.Val14966=) c.72093G>A (p.Val24031=) c.67170G>A (p.Val22390=) n.596+2590C>T n.2044-8533C>T c.71190G>A (p.Val23730=) c.45084G>A (p.Val15028=) c.44943G>A (p.Val14981=) c.70986G>A (p.Val23662=) c.66384G>A (p.Val22128=) c.66381G>A (p.Val22127=) c.63423G>A (p.Val21141=) c.45039G>A (p.Val15013=) c.66534G>A (p.Val22178=) c.66531G>A (p.Val22177=) c.65964G>A (p.Val21988=) c.63306G>A (p.Val21102=) c.63225G>A (p.Val21075=) c.44988G>A (p.Val14996=) c.34842G>A (p.Val11614=) | |
| 2 | g.178574040A>C | CA349648597 | TTN,TTN-AS1 | c.64388T>G (p.Val21463Gly) c.45473T>G (p.Val15158Gly) c.45272T>G (p.Val15091Gly) c.44897T>G (p.Val14966Gly) c.72092T>G (p.Val24031Gly) c.67169T>G (p.Val22390Gly) n.596+2591A>C n.2044-8532A>C c.71189T>G (p.Val23730Gly) c.45083T>G (p.Val15028Gly) c.44942T>G (p.Val14981Gly) c.70985T>G (p.Val23662Gly) c.66383T>G (p.Val22128Gly) c.66380T>G (p.Val22127Gly) c.63422T>G (p.Val21141Gly) c.45038T>G (p.Val15013Gly) c.66533T>G (p.Val22178Gly) c.66530T>G (p.Val22177Gly) c.65963T>G (p.Val21988Gly) c.63305T>G (p.Val21102Gly) c.63224T>G (p.Val21075Gly) c.44987T>G (p.Val14996Gly) c.34841T>G (p.Val11614Gly) | |
| 2 | g.178574040A>G | CA349648598 | TTN,TTN-AS1 | c.64388T>C (p.Val21463Ala) c.45473T>C (p.Val15158Ala) c.45272T>C (p.Val15091Ala) c.44897T>C (p.Val14966Ala) c.72092T>C (p.Val24031Ala) c.67169T>C (p.Val22390Ala) n.596+2591A>G n.2044-8532A>G c.71189T>C (p.Val23730Ala) c.45083T>C (p.Val15028Ala) c.44942T>C (p.Val14981Ala) c.70985T>C (p.Val23662Ala) c.66383T>C (p.Val22128Ala) c.66380T>C (p.Val22127Ala) c.63422T>C (p.Val21141Ala) c.45038T>C (p.Val15013Ala) c.66533T>C (p.Val22178Ala) c.66530T>C (p.Val22177Ala) c.65963T>C (p.Val21988Ala) c.63305T>C (p.Val21102Ala) c.63224T>C (p.Val21075Ala) c.44987T>C (p.Val14996Ala) c.34841T>C (p.Val11614Ala) | gnomAD v4 |
| 2 | g.178574040A>T | CA349648600 | TTN,TTN-AS1 | c.64388T>A (p.Val21463Glu) c.45473T>A (p.Val15158Glu) c.45272T>A (p.Val15091Glu) c.44897T>A (p.Val14966Glu) c.72092T>A (p.Val24031Glu) c.67169T>A (p.Val22390Glu) n.596+2591A>T n.2044-8532A>T c.71189T>A (p.Val23730Glu) c.45083T>A (p.Val15028Glu) c.44942T>A (p.Val14981Glu) c.70985T>A (p.Val23662Glu) c.66383T>A (p.Val22128Glu) c.66380T>A (p.Val22127Glu) c.63422T>A (p.Val21141Glu) c.45038T>A (p.Val15013Glu) c.66533T>A (p.Val22178Glu) c.66530T>A (p.Val22177Glu) c.65963T>A (p.Val21988Glu) c.63305T>A (p.Val21102Glu) c.63224T>A (p.Val21075Glu) c.44987T>A (p.Val14996Glu) c.34841T>A (p.Val11614Glu) | |
| 2 | g.178574041C>A | CA349648605 | TTN,TTN-AS1 | c.64387G>T (p.Val21463Leu) c.45472G>T (p.Val15158Leu) c.45271G>T (p.Val15091Leu) c.44896G>T (p.Val14966Leu) c.72091G>T (p.Val24031Leu) c.67168G>T (p.Val22390Leu) n.596+2592C>A n.2044-8531C>A c.71188G>T (p.Val23730Leu) c.45082G>T (p.Val15028Leu) c.44941G>T (p.Val14981Leu) c.70984G>T (p.Val23662Leu) c.66382G>T (p.Val22128Leu) c.66379G>T (p.Val22127Leu) c.63421G>T (p.Val21141Leu) c.45037G>T (p.Val15013Leu) c.66532G>T (p.Val22178Leu) c.66529G>T (p.Val22177Leu) c.65962G>T (p.Val21988Leu) c.63304G>T (p.Val21102Leu) c.63223G>T (p.Val21075Leu) c.44986G>T (p.Val14996Leu) c.34840G>T (p.Val11614Leu) | |
| 2 | g.178574041C>G | CA349648606 | TTN,TTN-AS1 | c.64387G>C (p.Val21463Leu) c.45472G>C (p.Val15158Leu) c.45271G>C (p.Val15091Leu) c.44896G>C (p.Val14966Leu) c.72091G>C (p.Val24031Leu) c.67168G>C (p.Val22390Leu) n.596+2592C>G n.2044-8531C>G c.71188G>C (p.Val23730Leu) c.45082G>C (p.Val15028Leu) c.44941G>C (p.Val14981Leu) c.70984G>C (p.Val23662Leu) c.66382G>C (p.Val22128Leu) c.66379G>C (p.Val22127Leu) c.63421G>C (p.Val21141Leu) c.45037G>C (p.Val15013Leu) c.66532G>C (p.Val22178Leu) c.66529G>C (p.Val22177Leu) c.65962G>C (p.Val21988Leu) c.63304G>C (p.Val21102Leu) c.63223G>C (p.Val21075Leu) c.44986G>C (p.Val14996Leu) c.34840G>C (p.Val11614Leu) | |
| 2 | g.178574041C>T | CA349648608 | TTN,TTN-AS1 | c.64387G>A (p.Val21463Met) c.45472G>A (p.Val15158Met) c.45271G>A (p.Val15091Met) c.44896G>A (p.Val14966Met) c.72091G>A (p.Val24031Met) c.67168G>A (p.Val22390Met) n.596+2592C>T n.2044-8531C>T c.71188G>A (p.Val23730Met) c.45082G>A (p.Val15028Met) c.44941G>A (p.Val14981Met) c.70984G>A (p.Val23662Met) c.66382G>A (p.Val22128Met) c.66379G>A (p.Val22127Met) c.63421G>A (p.Val21141Met) c.45037G>A (p.Val15013Met) c.66532G>A (p.Val22178Met) c.66529G>A (p.Val22177Met) c.65962G>A (p.Val21988Met) c.63304G>A (p.Val21102Met) c.63223G>A (p.Val21075Met) c.44986G>A (p.Val14996Met) c.34840G>A (p.Val11614Met) | |
| 2 | g.178574042C>A | CA349648609 | TTN,TTN-AS1 | c.64386G>T (p.Lys21462Asn) c.45471G>T (p.Lys15157Asn) c.45270G>T (p.Lys15090Asn) c.44895G>T (p.Lys14965Asn) c.72090G>T (p.Lys24030Asn) c.67167G>T (p.Lys22389Asn) n.596+2593C>A n.2044-8530C>A c.71187G>T (p.Lys23729Asn) c.45081G>T (p.Lys15027Asn) c.44940G>T (p.Lys14980Asn) c.70983G>T (p.Lys23661Asn) c.66381G>T (p.Lys22127Asn) c.66378G>T (p.Lys22126Asn) c.63420G>T (p.Lys21140Asn) c.45036G>T (p.Lys15012Asn) c.66531G>T (p.Lys22177Asn) c.66528G>T (p.Lys22176Asn) c.65961G>T (p.Lys21987Asn) c.63303G>T (p.Lys21101Asn) c.63222G>T (p.Lys21074Asn) c.44985G>T (p.Lys14995Asn) c.34839G>T (p.Lys11613Asn) | |
| 2 | g.178574042C= | CA1310532383 | TTN,TTN-AS1 | c.64386G= (p.Lys21462=) c.45471G= (p.Lys15157=) c.45270G= (p.Lys15090=) c.44895G= (p.Lys14965=) c.72090G= (p.Lys24030=) c.67167G= (p.Lys22389=) n.596+2593C= n.2044-8530C= c.71187G= (p.Lys23729=) c.45081G= (p.Lys15027=) c.44940G= (p.Lys14980=) c.70983G= (p.Lys23661=) c.66381G= (p.Lys22127=) c.66378G= (p.Lys22126=) c.63420G= (p.Lys21140=) c.45036G= (p.Lys15012=) c.66531G= (p.Lys22177=) c.66528G= (p.Lys22176=) c.65961G= (p.Lys21987=) c.63303G= (p.Lys21101=) c.63222G= (p.Lys21074=) c.44985G= (p.Lys14995=) c.34839G= (p.Lys11613=) | |
| 2 | g.178574042C>G | CA349648610 | TTN,TTN-AS1 | c.64386G>C (p.Lys21462Asn) c.45471G>C (p.Lys15157Asn) c.45270G>C (p.Lys15090Asn) c.44895G>C (p.Lys14965Asn) c.72090G>C (p.Lys24030Asn) c.67167G>C (p.Lys22389Asn) n.596+2593C>G n.2044-8530C>G c.71187G>C (p.Lys23729Asn) c.45081G>C (p.Lys15027Asn) c.44940G>C (p.Lys14980Asn) c.70983G>C (p.Lys23661Asn) c.66381G>C (p.Lys22127Asn) c.66378G>C (p.Lys22126Asn) c.63420G>C (p.Lys21140Asn) c.45036G>C (p.Lys15012Asn) c.66531G>C (p.Lys22177Asn) c.66528G>C (p.Lys22176Asn) c.65961G>C (p.Lys21987Asn) c.63303G>C (p.Lys21101Asn) c.63222G>C (p.Lys21074Asn) c.44985G>C (p.Lys14995Asn) c.34839G>C (p.Lys11613Asn) | |
| 2 | g.178574042C>T | CA61000366 | TTN,TTN-AS1 | c.64386G>A (p.Lys21462=) c.45471G>A (p.Lys15157=) c.45270G>A (p.Lys15090=) c.44895G>A (p.Lys14965=) c.72090G>A (p.Lys24030=) c.67167G>A (p.Lys22389=) n.596+2593C>T n.2044-8530C>T c.71187G>A (p.Lys23729=) c.45081G>A (p.Lys15027=) c.44940G>A (p.Lys14980=) c.70983G>A (p.Lys23661=) c.66381G>A (p.Lys22127=) c.66378G>A (p.Lys22126=) c.63420G>A (p.Lys21140=) c.45036G>A (p.Lys15012=) c.66531G>A (p.Lys22177=) c.66528G>A (p.Lys22176=) c.65961G>A (p.Lys21987=) c.63303G>A (p.Lys21101=) c.63222G>A (p.Lys21074=) c.44985G>A (p.Lys14995=) c.34839G>A (p.Lys11613=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178574043T>A | CA349648615 | TTN,TTN-AS1 | c.64385A>T (p.Lys21462Met) c.45470A>T (p.Lys15157Met) c.45269A>T (p.Lys15090Met) c.44894A>T (p.Lys14965Met) c.72089A>T (p.Lys24030Met) c.67166A>T (p.Lys22389Met) n.596+2594T>A n.2044-8529T>A c.71186A>T (p.Lys23729Met) c.45080A>T (p.Lys15027Met) c.44939A>T (p.Lys14980Met) c.70982A>T (p.Lys23661Met) c.66380A>T (p.Lys22127Met) c.66377A>T (p.Lys22126Met) c.63419A>T (p.Lys21140Met) c.45035A>T (p.Lys15012Met) c.66530A>T (p.Lys22177Met) c.66527A>T (p.Lys22176Met) c.65960A>T (p.Lys21987Met) c.63302A>T (p.Lys21101Met) c.63221A>T (p.Lys21074Met) c.44984A>T (p.Lys14995Met) c.34838A>T (p.Lys11613Met) | |
| 2 | g.178574043T>C | CA349648614 | TTN,TTN-AS1 | c.64385A>G (p.Lys21462Arg) c.45470A>G (p.Lys15157Arg) c.45269A>G (p.Lys15090Arg) c.44894A>G (p.Lys14965Arg) c.72089A>G (p.Lys24030Arg) c.67166A>G (p.Lys22389Arg) n.596+2594T>C n.2044-8529T>C c.71186A>G (p.Lys23729Arg) c.45080A>G (p.Lys15027Arg) c.44939A>G (p.Lys14980Arg) c.70982A>G (p.Lys23661Arg) c.66380A>G (p.Lys22127Arg) c.66377A>G (p.Lys22126Arg) c.63419A>G (p.Lys21140Arg) c.45035A>G (p.Lys15012Arg) c.66530A>G (p.Lys22177Arg) c.66527A>G (p.Lys22176Arg) c.65960A>G (p.Lys21987Arg) c.63302A>G (p.Lys21101Arg) c.63221A>G (p.Lys21074Arg) c.44984A>G (p.Lys14995Arg) c.34838A>G (p.Lys11613Arg) | |
| 2 | g.178574043T>G | CA349648613 | TTN,TTN-AS1 | c.64385A>C (p.Lys21462Thr) c.45470A>C (p.Lys15157Thr) c.45269A>C (p.Lys15090Thr) c.44894A>C (p.Lys14965Thr) c.72089A>C (p.Lys24030Thr) c.67166A>C (p.Lys22389Thr) n.596+2594T>G n.2044-8529T>G c.71186A>C (p.Lys23729Thr) c.45080A>C (p.Lys15027Thr) c.44939A>C (p.Lys14980Thr) c.70982A>C (p.Lys23661Thr) c.66380A>C (p.Lys22127Thr) c.66377A>C (p.Lys22126Thr) c.63419A>C (p.Lys21140Thr) c.45035A>C (p.Lys15012Thr) c.66530A>C (p.Lys22177Thr) c.66527A>C (p.Lys22176Thr) c.65960A>C (p.Lys21987Thr) c.63302A>C (p.Lys21101Thr) c.63221A>C (p.Lys21074Thr) c.44984A>C (p.Lys14995Thr) c.34838A>C (p.Lys11613Thr) | |
| 2 | g.178574044T>A | CA349648618 | TTN,TTN-AS1 | c.64384A>T (p.Lys21462Ter) c.45469A>T (p.Lys15157Ter) c.45268A>T (p.Lys15090Ter) c.44893A>T (p.Lys14965Ter) c.72088A>T (p.Lys24030Ter) c.67165A>T (p.Lys22389Ter) n.596+2595T>A n.2044-8528T>A c.71185A>T (p.Lys23729Ter) c.45079A>T (p.Lys15027Ter) c.44938A>T (p.Lys14980Ter) c.70981A>T (p.Lys23661Ter) c.66379A>T (p.Lys22127Ter) c.66376A>T (p.Lys22126Ter) c.63418A>T (p.Lys21140Ter) c.45034A>T (p.Lys15012Ter) c.66529A>T (p.Lys22177Ter) c.66526A>T (p.Lys22176Ter) c.65959A>T (p.Lys21987Ter) c.63301A>T (p.Lys21101Ter) c.63220A>T (p.Lys21074Ter) c.44983A>T (p.Lys14995Ter) c.34837A>T (p.Lys11613Ter) | ClinVar dbSNP |
| 2 | g.178574044T>C | CA349648620 | TTN,TTN-AS1 | c.64384A>G (p.Lys21462Glu) c.45469A>G (p.Lys15157Glu) c.45268A>G (p.Lys15090Glu) c.44893A>G (p.Lys14965Glu) c.72088A>G (p.Lys24030Glu) c.67165A>G (p.Lys22389Glu) n.596+2595T>C n.2044-8528T>C c.71185A>G (p.Lys23729Glu) c.45079A>G (p.Lys15027Glu) c.44938A>G (p.Lys14980Glu) c.70981A>G (p.Lys23661Glu) c.66379A>G (p.Lys22127Glu) c.66376A>G (p.Lys22126Glu) c.63418A>G (p.Lys21140Glu) c.45034A>G (p.Lys15012Glu) c.66529A>G (p.Lys22177Glu) c.66526A>G (p.Lys22176Glu) c.65959A>G (p.Lys21987Glu) c.63301A>G (p.Lys21101Glu) c.63220A>G (p.Lys21074Glu) c.44983A>G (p.Lys14995Glu) c.34837A>G (p.Lys11613Glu) | |
| 2 | g.178574044T>G | CA349648622 | TTN,TTN-AS1 | c.64384A>C (p.Lys21462Gln) c.45469A>C (p.Lys15157Gln) c.45268A>C (p.Lys15090Gln) c.44893A>C (p.Lys14965Gln) c.72088A>C (p.Lys24030Gln) c.67165A>C (p.Lys22389Gln) n.596+2595T>G n.2044-8528T>G c.71185A>C (p.Lys23729Gln) c.45079A>C (p.Lys15027Gln) c.44938A>C (p.Lys14980Gln) c.70981A>C (p.Lys23661Gln) c.66379A>C (p.Lys22127Gln) c.66376A>C (p.Lys22126Gln) c.63418A>C (p.Lys21140Gln) c.45034A>C (p.Lys15012Gln) c.66529A>C (p.Lys22177Gln) c.66526A>C (p.Lys22176Gln) c.65959A>C (p.Lys21987Gln) c.63301A>C (p.Lys21101Gln) c.63220A>C (p.Lys21074Gln) c.44983A>C (p.Lys14995Gln) c.34837A>C (p.Lys11613Gln) | |
| 2 | g.178574044T= | CA1310532385 | TTN,TTN-AS1 | c.64384A= (p.Lys21462=) c.45469A= (p.Lys15157=) c.45268A= (p.Lys15090=) c.44893A= (p.Lys14965=) c.72088A= (p.Lys24030=) c.67165A= (p.Lys22389=) n.596+2595T= n.2044-8528T= c.71185A= (p.Lys23729=) c.45079A= (p.Lys15027=) c.44938A= (p.Lys14980=) c.70981A= (p.Lys23661=) c.66379A= (p.Lys22127=) c.66376A= (p.Lys22126=) c.63418A= (p.Lys21140=) c.45034A= (p.Lys15012=) c.66529A= (p.Lys22177=) c.66526A= (p.Lys22176=) c.65959A= (p.Lys21987=) c.63301A= (p.Lys21101=) c.63220A= (p.Lys21074=) c.44983A= (p.Lys14995=) c.34837A= (p.Lys11613=) | |
| 2 | g.178574045T>A | CA430257151 | TTN,TTN-AS1 | c.64383A>T (p.Ile21461=) c.45468A>T (p.Ile15156=) c.45267A>T (p.Ile15089=) c.44892A>T (p.Ile14964=) c.72087A>T (p.Ile24029=) c.67164A>T (p.Ile22388=) n.596+2596T>A n.2044-8527T>A c.71184A>T (p.Ile23728=) c.45078A>T (p.Ile15026=) c.44937A>T (p.Ile14979=) c.70980A>T (p.Ile23660=) c.66378A>T (p.Ile22126=) c.66375A>T (p.Ile22125=) c.63417A>T (p.Ile21139=) c.45033A>T (p.Ile15011=) c.66528A>T (p.Ile22176=) c.66525A>T (p.Ile22175=) c.65958A>T (p.Ile21986=) c.63300A>T (p.Ile21100=) c.63219A>T (p.Ile21073=) c.44982A>T (p.Ile14994=) c.34836A>T (p.Ile11612=) | |
| 2 | g.178574045T>C | CA349648624 | TTN,TTN-AS1 | c.64383A>G (p.Ile21461Met) c.45468A>G (p.Ile15156Met) c.45267A>G (p.Ile15089Met) c.44892A>G (p.Ile14964Met) c.72087A>G (p.Ile24029Met) c.67164A>G (p.Ile22388Met) n.596+2596T>C n.2044-8527T>C c.71184A>G (p.Ile23728Met) c.45078A>G (p.Ile15026Met) c.44937A>G (p.Ile14979Met) c.70980A>G (p.Ile23660Met) c.66378A>G (p.Ile22126Met) c.66375A>G (p.Ile22125Met) c.63417A>G (p.Ile21139Met) c.45033A>G (p.Ile15011Met) c.66528A>G (p.Ile22176Met) c.66525A>G (p.Ile22175Met) c.65958A>G (p.Ile21986Met) c.63300A>G (p.Ile21100Met) c.63219A>G (p.Ile21073Met) c.44982A>G (p.Ile14994Met) c.34836A>G (p.Ile11612Met) | |
| 2 | g.178574045T>G | CA430257152 | TTN,TTN-AS1 | c.64383A>C (p.Ile21461=) c.45468A>C (p.Ile15156=) c.45267A>C (p.Ile15089=) c.44892A>C (p.Ile14964=) c.72087A>C (p.Ile24029=) c.67164A>C (p.Ile22388=) n.596+2596T>G n.2044-8527T>G c.71184A>C (p.Ile23728=) c.45078A>C (p.Ile15026=) c.44937A>C (p.Ile14979=) c.70980A>C (p.Ile23660=) c.66378A>C (p.Ile22126=) c.66375A>C (p.Ile22125=) c.63417A>C (p.Ile21139=) c.45033A>C (p.Ile15011=) c.66528A>C (p.Ile22176=) c.66525A>C (p.Ile22175=) c.65958A>C (p.Ile21986=) c.63300A>C (p.Ile21100=) c.63219A>C (p.Ile21073=) c.44982A>C (p.Ile14994=) c.34836A>C (p.Ile11612=) |