| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178573866T>A | CA349647770 | TTN,TTN-AS1 | c.64562A>T (p.Asn21521Ile) c.45647A>T (p.Asn15216Ile) c.45446A>T (p.Asn15149Ile) c.45071A>T (p.Asn15024Ile) c.72266A>T (p.Asn24089Ile) c.67343A>T (p.Asn22448Ile) n.596+2417T>A n.2044-8706T>A c.71363A>T (p.Asn23788Ile) c.45257A>T (p.Asn15086Ile) c.45116A>T (p.Asn15039Ile) c.71159A>T (p.Asn23720Ile) c.66557A>T (p.Asn22186Ile) c.66554A>T (p.Asn22185Ile) c.63596A>T (p.Asn21199Ile) c.45212A>T (p.Asn15071Ile) c.66707A>T (p.Asn22236Ile) c.66704A>T (p.Asn22235Ile) c.66137A>T (p.Asn22046Ile) c.63479A>T (p.Asn21160Ile) c.63398A>T (p.Asn21133Ile) c.45161A>T (p.Asn15054Ile) c.35015A>T (p.Asn11672Ile) | |
| 2 | g.178573866T>C | CA349647771 | TTN,TTN-AS1 | c.64562A>G (p.Asn21521Ser) c.45647A>G (p.Asn15216Ser) c.45446A>G (p.Asn15149Ser) c.45071A>G (p.Asn15024Ser) c.72266A>G (p.Asn24089Ser) c.67343A>G (p.Asn22448Ser) n.596+2417T>C n.2044-8706T>C c.71363A>G (p.Asn23788Ser) c.45257A>G (p.Asn15086Ser) c.45116A>G (p.Asn15039Ser) c.71159A>G (p.Asn23720Ser) c.66557A>G (p.Asn22186Ser) c.66554A>G (p.Asn22185Ser) c.63596A>G (p.Asn21199Ser) c.45212A>G (p.Asn15071Ser) c.66707A>G (p.Asn22236Ser) c.66704A>G (p.Asn22235Ser) c.66137A>G (p.Asn22046Ser) c.63479A>G (p.Asn21160Ser) c.63398A>G (p.Asn21133Ser) c.45161A>G (p.Asn15054Ser) c.35015A>G (p.Asn11672Ser) | |
| 2 | g.178573866T>G | CA349647773 | TTN,TTN-AS1 | c.64562A>C (p.Asn21521Thr) c.45647A>C (p.Asn15216Thr) c.45446A>C (p.Asn15149Thr) c.45071A>C (p.Asn15024Thr) c.72266A>C (p.Asn24089Thr) c.67343A>C (p.Asn22448Thr) n.596+2417T>G n.2044-8706T>G c.71363A>C (p.Asn23788Thr) c.45257A>C (p.Asn15086Thr) c.45116A>C (p.Asn15039Thr) c.71159A>C (p.Asn23720Thr) c.66557A>C (p.Asn22186Thr) c.66554A>C (p.Asn22185Thr) c.63596A>C (p.Asn21199Thr) c.45212A>C (p.Asn15071Thr) c.66707A>C (p.Asn22236Thr) c.66704A>C (p.Asn22235Thr) c.66137A>C (p.Asn22046Thr) c.63479A>C (p.Asn21160Thr) c.63398A>C (p.Asn21133Thr) c.45161A>C (p.Asn15054Thr) c.35015A>C (p.Asn11672Thr) | |
| 2 | g.178573867T>A | CA349647775 | TTN,TTN-AS1 | c.64561A>T (p.Asn21521Tyr) c.45646A>T (p.Asn15216Tyr) c.45445A>T (p.Asn15149Tyr) c.45070A>T (p.Asn15024Tyr) c.72265A>T (p.Asn24089Tyr) c.67342A>T (p.Asn22448Tyr) n.596+2418T>A n.2044-8705T>A c.71362A>T (p.Asn23788Tyr) c.45256A>T (p.Asn15086Tyr) c.45115A>T (p.Asn15039Tyr) c.71158A>T (p.Asn23720Tyr) c.66556A>T (p.Asn22186Tyr) c.66553A>T (p.Asn22185Tyr) c.63595A>T (p.Asn21199Tyr) c.45211A>T (p.Asn15071Tyr) c.66706A>T (p.Asn22236Tyr) c.66703A>T (p.Asn22235Tyr) c.66136A>T (p.Asn22046Tyr) c.63478A>T (p.Asn21160Tyr) c.63397A>T (p.Asn21133Tyr) c.45160A>T (p.Asn15054Tyr) c.35014A>T (p.Asn11672Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178573867T>C | CA349647777 | TTN,TTN-AS1 | c.64561A>G (p.Asn21521Asp) c.45646A>G (p.Asn15216Asp) c.45445A>G (p.Asn15149Asp) c.45070A>G (p.Asn15024Asp) c.72265A>G (p.Asn24089Asp) c.67342A>G (p.Asn22448Asp) n.596+2418T>C n.2044-8705T>C c.71362A>G (p.Asn23788Asp) c.45256A>G (p.Asn15086Asp) c.45115A>G (p.Asn15039Asp) c.71158A>G (p.Asn23720Asp) c.66556A>G (p.Asn22186Asp) c.66553A>G (p.Asn22185Asp) c.63595A>G (p.Asn21199Asp) c.45211A>G (p.Asn15071Asp) c.66706A>G (p.Asn22236Asp) c.66703A>G (p.Asn22235Asp) c.66136A>G (p.Asn22046Asp) c.63478A>G (p.Asn21160Asp) c.63397A>G (p.Asn21133Asp) c.45160A>G (p.Asn15054Asp) c.35014A>G (p.Asn11672Asp) | |
| 2 | g.178573867T>G | CA349647778 | TTN,TTN-AS1 | c.64561A>C (p.Asn21521His) c.45646A>C (p.Asn15216His) c.45445A>C (p.Asn15149His) c.45070A>C (p.Asn15024His) c.72265A>C (p.Asn24089His) c.67342A>C (p.Asn22448His) n.596+2418T>G n.2044-8705T>G c.71362A>C (p.Asn23788His) c.45256A>C (p.Asn15086His) c.45115A>C (p.Asn15039His) c.71158A>C (p.Asn23720His) c.66556A>C (p.Asn22186His) c.66553A>C (p.Asn22185His) c.63595A>C (p.Asn21199His) c.45211A>C (p.Asn15071His) c.66706A>C (p.Asn22236His) c.66703A>C (p.Asn22235His) c.66136A>C (p.Asn22046His) c.63478A>C (p.Asn21160His) c.63397A>C (p.Asn21133His) c.45160A>C (p.Asn15054His) c.35014A>C (p.Asn11672His) | |
| 2 | g.178573867T= | CA1310532238 | TTN,TTN-AS1 | c.64561A= (p.Asn21521=) c.45646A= (p.Asn15216=) c.45445A= (p.Asn15149=) c.45070A= (p.Asn15024=) c.72265A= (p.Asn24089=) c.67342A= (p.Asn22448=) n.596+2418T= n.2044-8705T= c.71362A= (p.Asn23788=) c.45256A= (p.Asn15086=) c.45115A= (p.Asn15039=) c.71158A= (p.Asn23720=) c.66556A= (p.Asn22186=) c.66553A= (p.Asn22185=) c.63595A= (p.Asn21199=) c.45211A= (p.Asn15071=) c.66706A= (p.Asn22236=) c.66703A= (p.Asn22235=) c.66136A= (p.Asn22046=) c.63478A= (p.Asn21160=) c.63397A= (p.Asn21133=) c.45160A= (p.Asn15054=) c.35014A= (p.Asn11672=) | |
| 2 | g.178573868T>A | CA430257422 | TTN,TTN-AS1 | c.64560A>T (p.Val21520=) c.45645A>T (p.Val15215=) c.45444A>T (p.Val15148=) c.45069A>T (p.Val15023=) c.72264A>T (p.Val24088=) c.67341A>T (p.Val22447=) n.596+2419T>A n.2044-8704T>A c.71361A>T (p.Val23787=) c.45255A>T (p.Val15085=) c.45114A>T (p.Val15038=) c.71157A>T (p.Val23719=) c.66555A>T (p.Val22185=) c.66552A>T (p.Val22184=) c.63594A>T (p.Val21198=) c.45210A>T (p.Val15070=) c.66705A>T (p.Val22235=) c.66702A>T (p.Val22234=) c.66135A>T (p.Val22045=) c.63477A>T (p.Val21159=) c.63396A>T (p.Val21132=) c.45159A>T (p.Val15053=) c.35013A>T (p.Val11671=) | |
| 2 | g.178573868T>C | CA1990525 | TTN,TTN-AS1 | c.64560A>G (p.Val21520=) c.45645A>G (p.Val15215=) c.45444A>G (p.Val15148=) c.45069A>G (p.Val15023=) c.72264A>G (p.Val24088=) c.67341A>G (p.Val22447=) n.596+2419T>C n.2044-8704T>C c.71361A>G (p.Val23787=) c.45255A>G (p.Val15085=) c.45114A>G (p.Val15038=) c.71157A>G (p.Val23719=) c.66555A>G (p.Val22185=) c.66552A>G (p.Val22184=) c.63594A>G (p.Val21198=) c.45210A>G (p.Val15070=) c.66705A>G (p.Val22235=) c.66702A>G (p.Val22234=) c.66135A>G (p.Val22045=) c.63477A>G (p.Val21159=) c.63396A>G (p.Val21132=) c.45159A>G (p.Val15053=) c.35013A>G (p.Val11671=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178573868T>G | CA430257426 | TTN,TTN-AS1 | c.64560A>C (p.Val21520=) c.45645A>C (p.Val15215=) c.45444A>C (p.Val15148=) c.45069A>C (p.Val15023=) c.72264A>C (p.Val24088=) c.67341A>C (p.Val22447=) n.596+2419T>G n.2044-8704T>G c.71361A>C (p.Val23787=) c.45255A>C (p.Val15085=) c.45114A>C (p.Val15038=) c.71157A>C (p.Val23719=) c.66555A>C (p.Val22185=) c.66552A>C (p.Val22184=) c.63594A>C (p.Val21198=) c.45210A>C (p.Val15070=) c.66705A>C (p.Val22235=) c.66702A>C (p.Val22234=) c.66135A>C (p.Val22045=) c.63477A>C (p.Val21159=) c.63396A>C (p.Val21132=) c.45159A>C (p.Val15053=) c.35013A>C (p.Val11671=) | |
| 2 | g.178573868T= | CA1310532240 | TTN,TTN-AS1 | c.64560A= (p.Val21520=) c.45645A= (p.Val15215=) c.45444A= (p.Val15148=) c.45069A= (p.Val15023=) c.72264A= (p.Val24088=) c.67341A= (p.Val22447=) n.596+2419T= n.2044-8704T= c.71361A= (p.Val23787=) c.45255A= (p.Val15085=) c.45114A= (p.Val15038=) c.71157A= (p.Val23719=) c.66555A= (p.Val22185=) c.66552A= (p.Val22184=) c.63594A= (p.Val21198=) c.45210A= (p.Val15070=) c.66705A= (p.Val22235=) c.66702A= (p.Val22234=) c.66135A= (p.Val22045=) c.63477A= (p.Val21159=) c.63396A= (p.Val21132=) c.45159A= (p.Val15053=) c.35013A= (p.Val11671=) | |
| 2 | g.178573869del | CA2586965336 | TTN,TTN-AS1 | c.64559del (p.Val21520GlufsTer?) c.45644del (p.Val15215GlufsTer?) c.45443del (p.Val15148GlufsTer?) c.45068del (p.Val15023GlufsTer?) c.72263del (p.Val24088GlufsTer?) c.67340del (p.Val22447GlufsTer?) n.596+2420del n.2044-8703del c.71360del (p.Val23787GlufsTer?) c.45254del (p.Val15085GlufsTer?) c.45113del (p.Val15038GlufsTer?) c.71156del (p.Val23719GlufsTer?) c.66554del (p.Val22185GlufsTer?) c.66551del (p.Val22184GlufsTer?) c.63593del (p.Val21198GlufsTer?) c.45209del (p.Val15070GlufsTer?) c.66704del (p.Val22235GlufsTer?) c.66701del (p.Val22234GlufsTer?) c.66134del (p.Val22045GlufsTer?) c.63476del (p.Val21159GlufsTer?) c.63395del (p.Val21132GlufsTer?) c.45158del (p.Val15053GlufsTer?) c.35012del (p.Val11671GlufsTer?) | |
| 2 | g.178573869A= | CA1310532241 | TTN,TTN-AS1 | c.64559T= (p.Val21520=) c.45644T= (p.Val15215=) c.45443T= (p.Val15148=) c.45068T= (p.Val15023=) c.72263T= (p.Val24088=) c.67340T= (p.Val22447=) n.596+2420A= n.2044-8703A= c.71360T= (p.Val23787=) c.45254T= (p.Val15085=) c.45113T= (p.Val15038=) c.71156T= (p.Val23719=) c.66554T= (p.Val22185=) c.66551T= (p.Val22184=) c.63593T= (p.Val21198=) c.45209T= (p.Val15070=) c.66704T= (p.Val22235=) c.66701T= (p.Val22234=) c.66134T= (p.Val22045=) c.63476T= (p.Val21159=) c.63395T= (p.Val21132=) c.45158T= (p.Val15053=) c.35012T= (p.Val11671=) | |
| 2 | g.178573869A>C | CA349647781 | TTN,TTN-AS1 | c.64559T>G (p.Val21520Gly) c.45644T>G (p.Val15215Gly) c.45443T>G (p.Val15148Gly) c.45068T>G (p.Val15023Gly) c.72263T>G (p.Val24088Gly) c.67340T>G (p.Val22447Gly) n.596+2420A>C n.2044-8703A>C c.71360T>G (p.Val23787Gly) c.45254T>G (p.Val15085Gly) c.45113T>G (p.Val15038Gly) c.71156T>G (p.Val23719Gly) c.66554T>G (p.Val22185Gly) c.66551T>G (p.Val22184Gly) c.63593T>G (p.Val21198Gly) c.45209T>G (p.Val15070Gly) c.66704T>G (p.Val22235Gly) c.66701T>G (p.Val22234Gly) c.66134T>G (p.Val22045Gly) c.63476T>G (p.Val21159Gly) c.63395T>G (p.Val21132Gly) c.45158T>G (p.Val15053Gly) c.35012T>G (p.Val11671Gly) | |
| 2 | g.178573869A>G | CA1990526 | TTN,TTN-AS1 | c.64559T>C (p.Val21520Ala) c.45644T>C (p.Val15215Ala) c.45443T>C (p.Val15148Ala) c.45068T>C (p.Val15023Ala) c.72263T>C (p.Val24088Ala) c.67340T>C (p.Val22447Ala) n.596+2420A>G n.2044-8703A>G c.71360T>C (p.Val23787Ala) c.45254T>C (p.Val15085Ala) c.45113T>C (p.Val15038Ala) c.71156T>C (p.Val23719Ala) c.66554T>C (p.Val22185Ala) c.66551T>C (p.Val22184Ala) c.63593T>C (p.Val21198Ala) c.45209T>C (p.Val15070Ala) c.66704T>C (p.Val22235Ala) c.66701T>C (p.Val22234Ala) c.66134T>C (p.Val22045Ala) c.63476T>C (p.Val21159Ala) c.63395T>C (p.Val21132Ala) c.45158T>C (p.Val15053Ala) c.35012T>C (p.Val11671Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178573869A>T | CA349647786 | TTN,TTN-AS1 | c.64559T>A (p.Val21520Glu) c.45644T>A (p.Val15215Glu) c.45443T>A (p.Val15148Glu) c.45068T>A (p.Val15023Glu) c.72263T>A (p.Val24088Glu) c.67340T>A (p.Val22447Glu) n.596+2420A>T n.2044-8703A>T c.71360T>A (p.Val23787Glu) c.45254T>A (p.Val15085Glu) c.45113T>A (p.Val15038Glu) c.71156T>A (p.Val23719Glu) c.66554T>A (p.Val22185Glu) c.66551T>A (p.Val22184Glu) c.63593T>A (p.Val21198Glu) c.45209T>A (p.Val15070Glu) c.66704T>A (p.Val22235Glu) c.66701T>A (p.Val22234Glu) c.66134T>A (p.Val22045Glu) c.63476T>A (p.Val21159Glu) c.63395T>A (p.Val21132Glu) c.45158T>A (p.Val15053Glu) c.35012T>A (p.Val11671Glu) | gnomAD v4 |
| 2 | g.178573870C>A | CA349647788 | TTN,TTN-AS1 | c.64558G>T (p.Val21520Leu) c.45643G>T (p.Val15215Leu) c.45442G>T (p.Val15148Leu) c.45067G>T (p.Val15023Leu) c.72262G>T (p.Val24088Leu) c.67339G>T (p.Val22447Leu) n.596+2421C>A n.2044-8702C>A c.71359G>T (p.Val23787Leu) c.45253G>T (p.Val15085Leu) c.45112G>T (p.Val15038Leu) c.71155G>T (p.Val23719Leu) c.66553G>T (p.Val22185Leu) c.66550G>T (p.Val22184Leu) c.63592G>T (p.Val21198Leu) c.45208G>T (p.Val15070Leu) c.66703G>T (p.Val22235Leu) c.66700G>T (p.Val22234Leu) c.66133G>T (p.Val22045Leu) c.63475G>T (p.Val21159Leu) c.63394G>T (p.Val21132Leu) c.45157G>T (p.Val15053Leu) c.35011G>T (p.Val11671Leu) | |
| 2 | g.178573870C>G | CA349647789 | TTN,TTN-AS1 | c.64558G>C (p.Val21520Leu) c.45643G>C (p.Val15215Leu) c.45442G>C (p.Val15148Leu) c.45067G>C (p.Val15023Leu) c.72262G>C (p.Val24088Leu) c.67339G>C (p.Val22447Leu) n.596+2421C>G n.2044-8702C>G c.71359G>C (p.Val23787Leu) c.45253G>C (p.Val15085Leu) c.45112G>C (p.Val15038Leu) c.71155G>C (p.Val23719Leu) c.66553G>C (p.Val22185Leu) c.66550G>C (p.Val22184Leu) c.63592G>C (p.Val21198Leu) c.45208G>C (p.Val15070Leu) c.66703G>C (p.Val22235Leu) c.66700G>C (p.Val22234Leu) c.66133G>C (p.Val22045Leu) c.63475G>C (p.Val21159Leu) c.63394G>C (p.Val21132Leu) c.45157G>C (p.Val15053Leu) c.35011G>C (p.Val11671Leu) | |
| 2 | g.178573870C>T | CA349647794 | TTN,TTN-AS1 | c.64558G>A (p.Val21520Ile) c.45643G>A (p.Val15215Ile) c.45442G>A (p.Val15148Ile) c.45067G>A (p.Val15023Ile) c.72262G>A (p.Val24088Ile) c.67339G>A (p.Val22447Ile) n.596+2421C>T n.2044-8702C>T c.71359G>A (p.Val23787Ile) c.45253G>A (p.Val15085Ile) c.45112G>A (p.Val15038Ile) c.71155G>A (p.Val23719Ile) c.66553G>A (p.Val22185Ile) c.66550G>A (p.Val22184Ile) c.63592G>A (p.Val21198Ile) c.45208G>A (p.Val15070Ile) c.66703G>A (p.Val22235Ile) c.66700G>A (p.Val22234Ile) c.66133G>A (p.Val22045Ile) c.63475G>A (p.Val21159Ile) c.63394G>A (p.Val21132Ile) c.45157G>A (p.Val15053Ile) c.35011G>A (p.Val11671Ile) | |
| 2 | g.178573871del | CA2586965337 | TTN,TTN-AS1 | c.64558del (p.Val21520Ter) c.45643del (p.Val15215Ter) c.45442del (p.Val15148Ter) c.45067del (p.Val15023Ter) c.72262del (p.Val24088Ter) c.67339del (p.Val22447Ter) n.596+2422del n.2044-8701del c.71359del (p.Val23787Ter) c.45253del (p.Val15085Ter) c.45112del (p.Val15038Ter) c.71155del (p.Val23719Ter) c.66553del (p.Val22185Ter) c.66550del (p.Val22184Ter) c.63592del (p.Val21198Ter) c.45208del (p.Val15070Ter) c.66703del (p.Val22235Ter) c.66700del (p.Val22234Ter) c.66133del (p.Val22045Ter) c.63475del (p.Val21159Ter) c.63394del (p.Val21132Ter) c.45157del (p.Val15053Ter) c.35011del (p.Val11671Ter) | |
| 2 | g.178573871C>A | CA430257433 | TTN,TTN-AS1 | c.64557G>T (p.Leu21519=) c.45642G>T (p.Leu15214=) c.45441G>T (p.Leu15147=) c.45066G>T (p.Leu15022=) c.72261G>T (p.Leu24087=) c.67338G>T (p.Leu22446=) n.596+2422C>A n.2044-8701C>A c.71358G>T (p.Leu23786=) c.45252G>T (p.Leu15084=) c.45111G>T (p.Leu15037=) c.71154G>T (p.Leu23718=) c.66552G>T (p.Leu22184=) c.66549G>T (p.Leu22183=) c.63591G>T (p.Leu21197=) c.45207G>T (p.Leu15069=) c.66702G>T (p.Leu22234=) c.66699G>T (p.Leu22233=) c.66132G>T (p.Leu22044=) c.63474G>T (p.Leu21158=) c.63393G>T (p.Leu21131=) c.45156G>T (p.Leu15052=) c.35010G>T (p.Leu11670=) | |
| 2 | g.178573871C>G | CA430257435 | TTN,TTN-AS1 | c.64557G>C (p.Leu21519=) c.45642G>C (p.Leu15214=) c.45441G>C (p.Leu15147=) c.45066G>C (p.Leu15022=) c.72261G>C (p.Leu24087=) c.67338G>C (p.Leu22446=) n.596+2422C>G n.2044-8701C>G c.71358G>C (p.Leu23786=) c.45252G>C (p.Leu15084=) c.45111G>C (p.Leu15037=) c.71154G>C (p.Leu23718=) c.66552G>C (p.Leu22184=) c.66549G>C (p.Leu22183=) c.63591G>C (p.Leu21197=) c.45207G>C (p.Leu15069=) c.66702G>C (p.Leu22234=) c.66699G>C (p.Leu22233=) c.66132G>C (p.Leu22044=) c.63474G>C (p.Leu21158=) c.63393G>C (p.Leu21131=) c.45156G>C (p.Leu15052=) c.35010G>C (p.Leu11670=) | |
| 2 | g.178573871C>T | CA430257437 | TTN,TTN-AS1 | c.64557G>A (p.Leu21519=) c.45642G>A (p.Leu15214=) c.45441G>A (p.Leu15147=) c.45066G>A (p.Leu15022=) c.72261G>A (p.Leu24087=) c.67338G>A (p.Leu22446=) n.596+2422C>T n.2044-8701C>T c.71358G>A (p.Leu23786=) c.45252G>A (p.Leu15084=) c.45111G>A (p.Leu15037=) c.71154G>A (p.Leu23718=) c.66552G>A (p.Leu22184=) c.66549G>A (p.Leu22183=) c.63591G>A (p.Leu21197=) c.45207G>A (p.Leu15069=) c.66702G>A (p.Leu22234=) c.66699G>A (p.Leu22233=) c.66132G>A (p.Leu22044=) c.63474G>A (p.Leu21158=) c.63393G>A (p.Leu21131=) c.45156G>A (p.Leu15052=) c.35010G>A (p.Leu11670=) | ClinVar COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178573872A= | CA1310532244 | TTN,TTN-AS1 | c.64556T= (p.Leu21519=) c.45641T= (p.Leu15214=) c.45440T= (p.Leu15147=) c.45065T= (p.Leu15022=) c.72260T= (p.Leu24087=) c.67337T= (p.Leu22446=) n.596+2423A= n.2044-8700A= c.71357T= (p.Leu23786=) c.45251T= (p.Leu15084=) c.45110T= (p.Leu15037=) c.71153T= (p.Leu23718=) c.66551T= (p.Leu22184=) c.66548T= (p.Leu22183=) c.63590T= (p.Leu21197=) c.45206T= (p.Leu15069=) c.66701T= (p.Leu22234=) c.66698T= (p.Leu22233=) c.66131T= (p.Leu22044=) c.63473T= (p.Leu21158=) c.63392T= (p.Leu21131=) c.45155T= (p.Leu15052=) c.35009T= (p.Leu11670=) | |
| 2 | g.178573872A>C | CA349647796 | TTN,TTN-AS1 | c.64556T>G (p.Leu21519Arg) c.45641T>G (p.Leu15214Arg) c.45440T>G (p.Leu15147Arg) c.45065T>G (p.Leu15022Arg) c.72260T>G (p.Leu24087Arg) c.67337T>G (p.Leu22446Arg) n.596+2423A>C n.2044-8700A>C c.71357T>G (p.Leu23786Arg) c.45251T>G (p.Leu15084Arg) c.45110T>G (p.Leu15037Arg) c.71153T>G (p.Leu23718Arg) c.66551T>G (p.Leu22184Arg) c.66548T>G (p.Leu22183Arg) c.63590T>G (p.Leu21197Arg) c.45206T>G (p.Leu15069Arg) c.66701T>G (p.Leu22234Arg) c.66698T>G (p.Leu22233Arg) c.66131T>G (p.Leu22044Arg) c.63473T>G (p.Leu21158Arg) c.63392T>G (p.Leu21131Arg) c.45155T>G (p.Leu15052Arg) c.35009T>G (p.Leu11670Arg) | |
| 2 | g.178573872A>G | CA349647799 | TTN,TTN-AS1 | c.64556T>C (p.Leu21519Pro) c.45641T>C (p.Leu15214Pro) c.45440T>C (p.Leu15147Pro) c.45065T>C (p.Leu15022Pro) c.72260T>C (p.Leu24087Pro) c.67337T>C (p.Leu22446Pro) n.596+2423A>G n.2044-8700A>G c.71357T>C (p.Leu23786Pro) c.45251T>C (p.Leu15084Pro) c.45110T>C (p.Leu15037Pro) c.71153T>C (p.Leu23718Pro) c.66551T>C (p.Leu22184Pro) c.66548T>C (p.Leu22183Pro) c.63590T>C (p.Leu21197Pro) c.45206T>C (p.Leu15069Pro) c.66701T>C (p.Leu22234Pro) c.66698T>C (p.Leu22233Pro) c.66131T>C (p.Leu22044Pro) c.63473T>C (p.Leu21158Pro) c.63392T>C (p.Leu21131Pro) c.45155T>C (p.Leu15052Pro) c.35009T>C (p.Leu11670Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178573872A>T | CA349647798 | TTN,TTN-AS1 | c.64556T>A (p.Leu21519Gln) c.45641T>A (p.Leu15214Gln) c.45440T>A (p.Leu15147Gln) c.45065T>A (p.Leu15022Gln) c.72260T>A (p.Leu24087Gln) c.67337T>A (p.Leu22446Gln) n.596+2423A>T n.2044-8700A>T c.71357T>A (p.Leu23786Gln) c.45251T>A (p.Leu15084Gln) c.45110T>A (p.Leu15037Gln) c.71153T>A (p.Leu23718Gln) c.66551T>A (p.Leu22184Gln) c.66548T>A (p.Leu22183Gln) c.63590T>A (p.Leu21197Gln) c.45206T>A (p.Leu15069Gln) c.66701T>A (p.Leu22234Gln) c.66698T>A (p.Leu22233Gln) c.66131T>A (p.Leu22044Gln) c.63473T>A (p.Leu21158Gln) c.63392T>A (p.Leu21131Gln) c.45155T>A (p.Leu15052Gln) c.35009T>A (p.Leu11670Gln) | |
| 2 | g.178573873G>A | CA430257445 | TTN,TTN-AS1 | c.64555C>T (p.Leu21519=) c.45640C>T (p.Leu15214=) c.45439C>T (p.Leu15147=) c.45064C>T (p.Leu15022=) c.72259C>T (p.Leu24087=) c.67336C>T (p.Leu22446=) n.596+2424G>A n.2044-8699G>A c.71356C>T (p.Leu23786=) c.45250C>T (p.Leu15084=) c.45109C>T (p.Leu15037=) c.71152C>T (p.Leu23718=) c.66550C>T (p.Leu22184=) c.66547C>T (p.Leu22183=) c.63589C>T (p.Leu21197=) c.45205C>T (p.Leu15069=) c.66700C>T (p.Leu22234=) c.66697C>T (p.Leu22233=) c.66130C>T (p.Leu22044=) c.63472C>T (p.Leu21158=) c.63391C>T (p.Leu21131=) c.45154C>T (p.Leu15052=) c.35008C>T (p.Leu11670=) | |
| 2 | g.178573873G>C | CA349647802 | TTN,TTN-AS1 | c.64555C>G (p.Leu21519Val) c.45640C>G (p.Leu15214Val) c.45439C>G (p.Leu15147Val) c.45064C>G (p.Leu15022Val) c.72259C>G (p.Leu24087Val) c.67336C>G (p.Leu22446Val) n.596+2424G>C n.2044-8699G>C c.71356C>G (p.Leu23786Val) c.45250C>G (p.Leu15084Val) c.45109C>G (p.Leu15037Val) c.71152C>G (p.Leu23718Val) c.66550C>G (p.Leu22184Val) c.66547C>G (p.Leu22183Val) c.63589C>G (p.Leu21197Val) c.45205C>G (p.Leu15069Val) c.66700C>G (p.Leu22234Val) c.66697C>G (p.Leu22233Val) c.66130C>G (p.Leu22044Val) c.63472C>G (p.Leu21158Val) c.63391C>G (p.Leu21131Val) c.45154C>G (p.Leu15052Val) c.35008C>G (p.Leu11670Val) | gnomAD v4 |
| 2 | g.178573873G>T | CA349647803 | TTN,TTN-AS1 | c.64555C>A (p.Leu21519Met) c.45640C>A (p.Leu15214Met) c.45439C>A (p.Leu15147Met) c.45064C>A (p.Leu15022Met) c.72259C>A (p.Leu24087Met) c.67336C>A (p.Leu22446Met) n.596+2424G>T n.2044-8699G>T c.71356C>A (p.Leu23786Met) c.45250C>A (p.Leu15084Met) c.45109C>A (p.Leu15037Met) c.71152C>A (p.Leu23718Met) c.66550C>A (p.Leu22184Met) c.66547C>A (p.Leu22183Met) c.63589C>A (p.Leu21197Met) c.45205C>A (p.Leu15069Met) c.66700C>A (p.Leu22234Met) c.66697C>A (p.Leu22233Met) c.66130C>A (p.Leu22044Met) c.63472C>A (p.Leu21158Met) c.63391C>A (p.Leu21131Met) c.45154C>A (p.Leu15052Met) c.35008C>A (p.Leu11670Met) | |
| 2 | g.178573874A>C | CA349647804 | TTN,TTN-AS1 | c.64554T>G (p.Asn21518Lys) c.45639T>G (p.Asn15213Lys) c.45438T>G (p.Asn15146Lys) c.45063T>G (p.Asn15021Lys) c.72258T>G (p.Asn24086Lys) c.67335T>G (p.Asn22445Lys) n.596+2425A>C n.2044-8698A>C c.71355T>G (p.Asn23785Lys) c.45249T>G (p.Asn15083Lys) c.45108T>G (p.Asn15036Lys) c.71151T>G (p.Asn23717Lys) c.66549T>G (p.Asn22183Lys) c.66546T>G (p.Asn22182Lys) c.63588T>G (p.Asn21196Lys) c.45204T>G (p.Asn15068Lys) c.66699T>G (p.Asn22233Lys) c.66696T>G (p.Asn22232Lys) c.66129T>G (p.Asn22043Lys) c.63471T>G (p.Asn21157Lys) c.63390T>G (p.Asn21130Lys) c.45153T>G (p.Asn15051Lys) c.35007T>G (p.Asn11669Lys) | |
| 2 | g.178573874A>G | CA430257453 | TTN,TTN-AS1 | c.64554T>C (p.Asn21518=) c.45639T>C (p.Asn15213=) c.45438T>C (p.Asn15146=) c.45063T>C (p.Asn15021=) c.72258T>C (p.Asn24086=) c.67335T>C (p.Asn22445=) n.596+2425A>G n.2044-8698A>G c.71355T>C (p.Asn23785=) c.45249T>C (p.Asn15083=) c.45108T>C (p.Asn15036=) c.71151T>C (p.Asn23717=) c.66549T>C (p.Asn22183=) c.66546T>C (p.Asn22182=) c.63588T>C (p.Asn21196=) c.45204T>C (p.Asn15068=) c.66699T>C (p.Asn22233=) c.66696T>C (p.Asn22232=) c.66129T>C (p.Asn22043=) c.63471T>C (p.Asn21157=) c.63390T>C (p.Asn21130=) c.45153T>C (p.Asn15051=) c.35007T>C (p.Asn11669=) | gnomAD v4 |
| 2 | g.178573874A>T | CA349647806 | TTN,TTN-AS1 | c.64554T>A (p.Asn21518Lys) c.45639T>A (p.Asn15213Lys) c.45438T>A (p.Asn15146Lys) c.45063T>A (p.Asn15021Lys) c.72258T>A (p.Asn24086Lys) c.67335T>A (p.Asn22445Lys) n.596+2425A>T n.2044-8698A>T c.71355T>A (p.Asn23785Lys) c.45249T>A (p.Asn15083Lys) c.45108T>A (p.Asn15036Lys) c.71151T>A (p.Asn23717Lys) c.66549T>A (p.Asn22183Lys) c.66546T>A (p.Asn22182Lys) c.63588T>A (p.Asn21196Lys) c.45204T>A (p.Asn15068Lys) c.66699T>A (p.Asn22233Lys) c.66696T>A (p.Asn22232Lys) c.66129T>A (p.Asn22043Lys) c.63471T>A (p.Asn21157Lys) c.63390T>A (p.Asn21130Lys) c.45153T>A (p.Asn15051Lys) c.35007T>A (p.Asn11669Lys) | |
| 2 | g.178573875T>A | CA349647808 | TTN,TTN-AS1 | c.64553A>T (p.Asn21518Ile) c.45638A>T (p.Asn15213Ile) c.45437A>T (p.Asn15146Ile) c.45062A>T (p.Asn15021Ile) c.72257A>T (p.Asn24086Ile) c.67334A>T (p.Asn22445Ile) n.596+2426T>A n.2044-8697T>A c.71354A>T (p.Asn23785Ile) c.45248A>T (p.Asn15083Ile) c.45107A>T (p.Asn15036Ile) c.71150A>T (p.Asn23717Ile) c.66548A>T (p.Asn22183Ile) c.66545A>T (p.Asn22182Ile) c.63587A>T (p.Asn21196Ile) c.45203A>T (p.Asn15068Ile) c.66698A>T (p.Asn22233Ile) c.66695A>T (p.Asn22232Ile) c.66128A>T (p.Asn22043Ile) c.63470A>T (p.Asn21157Ile) c.63389A>T (p.Asn21130Ile) c.45152A>T (p.Asn15051Ile) c.35006A>T (p.Asn11669Ile) | |
| 2 | g.178573875T>C | CA349647809 | TTN,TTN-AS1 | c.64553A>G (p.Asn21518Ser) c.45638A>G (p.Asn15213Ser) c.45437A>G (p.Asn15146Ser) c.45062A>G (p.Asn15021Ser) c.72257A>G (p.Asn24086Ser) c.67334A>G (p.Asn22445Ser) n.596+2426T>C n.2044-8697T>C c.71354A>G (p.Asn23785Ser) c.45248A>G (p.Asn15083Ser) c.45107A>G (p.Asn15036Ser) c.71150A>G (p.Asn23717Ser) c.66548A>G (p.Asn22183Ser) c.66545A>G (p.Asn22182Ser) c.63587A>G (p.Asn21196Ser) c.45203A>G (p.Asn15068Ser) c.66698A>G (p.Asn22233Ser) c.66695A>G (p.Asn22232Ser) c.66128A>G (p.Asn22043Ser) c.63470A>G (p.Asn21157Ser) c.63389A>G (p.Asn21130Ser) c.45152A>G (p.Asn15051Ser) c.35006A>G (p.Asn11669Ser) | |
| 2 | g.178573875T>G | CA349647811 | TTN,TTN-AS1 | c.64553A>C (p.Asn21518Thr) c.45638A>C (p.Asn15213Thr) c.45437A>C (p.Asn15146Thr) c.45062A>C (p.Asn15021Thr) c.72257A>C (p.Asn24086Thr) c.67334A>C (p.Asn22445Thr) n.596+2426T>G n.2044-8697T>G c.71354A>C (p.Asn23785Thr) c.45248A>C (p.Asn15083Thr) c.45107A>C (p.Asn15036Thr) c.71150A>C (p.Asn23717Thr) c.66548A>C (p.Asn22183Thr) c.66545A>C (p.Asn22182Thr) c.63587A>C (p.Asn21196Thr) c.45203A>C (p.Asn15068Thr) c.66698A>C (p.Asn22233Thr) c.66695A>C (p.Asn22232Thr) c.66128A>C (p.Asn22043Thr) c.63470A>C (p.Asn21157Thr) c.63389A>C (p.Asn21130Thr) c.45152A>C (p.Asn15051Thr) c.35006A>C (p.Asn11669Thr) | |
| 2 | g.178573876T>A | CA349647813 | TTN,TTN-AS1 | c.64552A>T (p.Asn21518Tyr) c.45637A>T (p.Asn15213Tyr) c.45436A>T (p.Asn15146Tyr) c.45061A>T (p.Asn15021Tyr) c.72256A>T (p.Asn24086Tyr) c.67333A>T (p.Asn22445Tyr) n.596+2427T>A n.2044-8696T>A c.71353A>T (p.Asn23785Tyr) c.45247A>T (p.Asn15083Tyr) c.45106A>T (p.Asn15036Tyr) c.71149A>T (p.Asn23717Tyr) c.66547A>T (p.Asn22183Tyr) c.66544A>T (p.Asn22182Tyr) c.63586A>T (p.Asn21196Tyr) c.45202A>T (p.Asn15068Tyr) c.66697A>T (p.Asn22233Tyr) c.66694A>T (p.Asn22232Tyr) c.66127A>T (p.Asn22043Tyr) c.63469A>T (p.Asn21157Tyr) c.63388A>T (p.Asn21130Tyr) c.45151A>T (p.Asn15051Tyr) c.35005A>T (p.Asn11669Tyr) | |
| 2 | g.178573876T>C | CA349647815 | TTN,TTN-AS1 | c.64552A>G (p.Asn21518Asp) c.45637A>G (p.Asn15213Asp) c.45436A>G (p.Asn15146Asp) c.45061A>G (p.Asn15021Asp) c.72256A>G (p.Asn24086Asp) c.67333A>G (p.Asn22445Asp) n.596+2427T>C n.2044-8696T>C c.71353A>G (p.Asn23785Asp) c.45247A>G (p.Asn15083Asp) c.45106A>G (p.Asn15036Asp) c.71149A>G (p.Asn23717Asp) c.66547A>G (p.Asn22183Asp) c.66544A>G (p.Asn22182Asp) c.63586A>G (p.Asn21196Asp) c.45202A>G (p.Asn15068Asp) c.66697A>G (p.Asn22233Asp) c.66694A>G (p.Asn22232Asp) c.66127A>G (p.Asn22043Asp) c.63469A>G (p.Asn21157Asp) c.63388A>G (p.Asn21130Asp) c.45151A>G (p.Asn15051Asp) c.35005A>G (p.Asn11669Asp) | |
| 2 | g.178573876T>G | CA349647817 | TTN,TTN-AS1 | c.64552A>C (p.Asn21518His) c.45637A>C (p.Asn15213His) c.45436A>C (p.Asn15146His) c.45061A>C (p.Asn15021His) c.72256A>C (p.Asn24086His) c.67333A>C (p.Asn22445His) n.596+2427T>G n.2044-8696T>G c.71353A>C (p.Asn23785His) c.45247A>C (p.Asn15083His) c.45106A>C (p.Asn15036His) c.71149A>C (p.Asn23717His) c.66547A>C (p.Asn22183His) c.66544A>C (p.Asn22182His) c.63586A>C (p.Asn21196His) c.45202A>C (p.Asn15068His) c.66697A>C (p.Asn22233His) c.66694A>C (p.Asn22232His) c.66127A>C (p.Asn22043His) c.63469A>C (p.Asn21157His) c.63388A>C (p.Asn21130His) c.45151A>C (p.Asn15051His) c.35005A>C (p.Asn11669His) | |
| 2 | g.178573877A>C | CA430257461 | TTN,TTN-AS1 | c.64551T>G (p.Thr21517=) c.45636T>G (p.Thr15212=) c.45435T>G (p.Thr15145=) c.45060T>G (p.Thr15020=) c.72255T>G (p.Thr24085=) c.67332T>G (p.Thr22444=) n.596+2428A>C n.2044-8695A>C c.71352T>G (p.Thr23784=) c.45246T>G (p.Thr15082=) c.45105T>G (p.Thr15035=) c.71148T>G (p.Thr23716=) c.66546T>G (p.Thr22182=) c.66543T>G (p.Thr22181=) c.63585T>G (p.Thr21195=) c.45201T>G (p.Thr15067=) c.66696T>G (p.Thr22232=) c.66693T>G (p.Thr22231=) c.66126T>G (p.Thr22042=) c.63468T>G (p.Thr21156=) c.63387T>G (p.Thr21129=) c.45150T>G (p.Thr15050=) c.35004T>G (p.Thr11668=) | |
| 2 | g.178573877A>G | CA430257462 | TTN,TTN-AS1 | c.64551T>C (p.Thr21517=) c.45636T>C (p.Thr15212=) c.45435T>C (p.Thr15145=) c.45060T>C (p.Thr15020=) c.72255T>C (p.Thr24085=) c.67332T>C (p.Thr22444=) n.596+2428A>G n.2044-8695A>G c.71352T>C (p.Thr23784=) c.45246T>C (p.Thr15082=) c.45105T>C (p.Thr15035=) c.71148T>C (p.Thr23716=) c.66546T>C (p.Thr22182=) c.66543T>C (p.Thr22181=) c.63585T>C (p.Thr21195=) c.45201T>C (p.Thr15067=) c.66696T>C (p.Thr22232=) c.66693T>C (p.Thr22231=) c.66126T>C (p.Thr22042=) c.63468T>C (p.Thr21156=) c.63387T>C (p.Thr21129=) c.45150T>C (p.Thr15050=) c.35004T>C (p.Thr11668=) | |
| 2 | g.178573877A>T | CA430257463 | TTN,TTN-AS1 | c.64551T>A (p.Thr21517=) c.45636T>A (p.Thr15212=) c.45435T>A (p.Thr15145=) c.45060T>A (p.Thr15020=) c.72255T>A (p.Thr24085=) c.67332T>A (p.Thr22444=) n.596+2428A>T n.2044-8695A>T c.71352T>A (p.Thr23784=) c.45246T>A (p.Thr15082=) c.45105T>A (p.Thr15035=) c.71148T>A (p.Thr23716=) c.66546T>A (p.Thr22182=) c.66543T>A (p.Thr22181=) c.63585T>A (p.Thr21195=) c.45201T>A (p.Thr15067=) c.66696T>A (p.Thr22232=) c.66693T>A (p.Thr22231=) c.66126T>A (p.Thr22042=) c.63468T>A (p.Thr21156=) c.63387T>A (p.Thr21129=) c.45150T>A (p.Thr15050=) c.35004T>A (p.Thr11668=) | |
| 2 | g.178573878G>A | CA349647822 | TTN,TTN-AS1 | c.64550C>T (p.Thr21517Ile) c.45635C>T (p.Thr15212Ile) c.45434C>T (p.Thr15145Ile) c.45059C>T (p.Thr15020Ile) c.72254C>T (p.Thr24085Ile) c.67331C>T (p.Thr22444Ile) n.596+2429G>A n.2044-8694G>A c.71351C>T (p.Thr23784Ile) c.45245C>T (p.Thr15082Ile) c.45104C>T (p.Thr15035Ile) c.71147C>T (p.Thr23716Ile) c.66545C>T (p.Thr22182Ile) c.66542C>T (p.Thr22181Ile) c.63584C>T (p.Thr21195Ile) c.45200C>T (p.Thr15067Ile) c.66695C>T (p.Thr22232Ile) c.66692C>T (p.Thr22231Ile) c.66125C>T (p.Thr22042Ile) c.63467C>T (p.Thr21156Ile) c.63386C>T (p.Thr21129Ile) c.45149C>T (p.Thr15050Ile) c.35003C>T (p.Thr11668Ile) | COSMIC COSMIC COSMIC |
| 2 | g.178573878G>C | CA349647820 | TTN,TTN-AS1 | c.64550C>G (p.Thr21517Ser) c.45635C>G (p.Thr15212Ser) c.45434C>G (p.Thr15145Ser) c.45059C>G (p.Thr15020Ser) c.72254C>G (p.Thr24085Ser) c.67331C>G (p.Thr22444Ser) n.596+2429G>C n.2044-8694G>C c.71351C>G (p.Thr23784Ser) c.45245C>G (p.Thr15082Ser) c.45104C>G (p.Thr15035Ser) c.71147C>G (p.Thr23716Ser) c.66545C>G (p.Thr22182Ser) c.66542C>G (p.Thr22181Ser) c.63584C>G (p.Thr21195Ser) c.45200C>G (p.Thr15067Ser) c.66695C>G (p.Thr22232Ser) c.66692C>G (p.Thr22231Ser) c.66125C>G (p.Thr22042Ser) c.63467C>G (p.Thr21156Ser) c.63386C>G (p.Thr21129Ser) c.45149C>G (p.Thr15050Ser) c.35003C>G (p.Thr11668Ser) | |
| 2 | g.178573878G= | CA1310532245 | TTN,TTN-AS1 | c.64550C= (p.Thr21517=) c.45635C= (p.Thr15212=) c.45434C= (p.Thr15145=) c.45059C= (p.Thr15020=) c.72254C= (p.Thr24085=) c.67331C= (p.Thr22444=) n.596+2429G= n.2044-8694G= c.71351C= (p.Thr23784=) c.45245C= (p.Thr15082=) c.45104C= (p.Thr15035=) c.71147C= (p.Thr23716=) c.66545C= (p.Thr22182=) c.66542C= (p.Thr22181=) c.63584C= (p.Thr21195=) c.45200C= (p.Thr15067=) c.66695C= (p.Thr22232=) c.66692C= (p.Thr22231=) c.66125C= (p.Thr22042=) c.63467C= (p.Thr21156=) c.63386C= (p.Thr21129=) c.45149C= (p.Thr15050=) c.35003C= (p.Thr11668=) | |
| 2 | g.178573878G>T | CA349647819 | TTN,TTN-AS1 | c.64550C>A (p.Thr21517Asn) c.45635C>A (p.Thr15212Asn) c.45434C>A (p.Thr15145Asn) c.45059C>A (p.Thr15020Asn) c.72254C>A (p.Thr24085Asn) c.67331C>A (p.Thr22444Asn) n.596+2429G>T n.2044-8694G>T c.71351C>A (p.Thr23784Asn) c.45245C>A (p.Thr15082Asn) c.45104C>A (p.Thr15035Asn) c.71147C>A (p.Thr23716Asn) c.66545C>A (p.Thr22182Asn) c.66542C>A (p.Thr22181Asn) c.63584C>A (p.Thr21195Asn) c.45200C>A (p.Thr15067Asn) c.66695C>A (p.Thr22232Asn) c.66692C>A (p.Thr22231Asn) c.66125C>A (p.Thr22042Asn) c.63467C>A (p.Thr21156Asn) c.63386C>A (p.Thr21129Asn) c.45149C>A (p.Thr15050Asn) c.35003C>A (p.Thr11668Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178573879T>A | CA349647825 | TTN,TTN-AS1 | c.64549A>T (p.Thr21517Ser) c.45634A>T (p.Thr15212Ser) c.45433A>T (p.Thr15145Ser) c.45058A>T (p.Thr15020Ser) c.72253A>T (p.Thr24085Ser) c.67330A>T (p.Thr22444Ser) n.596+2430T>A n.2044-8693T>A c.71350A>T (p.Thr23784Ser) c.45244A>T (p.Thr15082Ser) c.45103A>T (p.Thr15035Ser) c.71146A>T (p.Thr23716Ser) c.66544A>T (p.Thr22182Ser) c.66541A>T (p.Thr22181Ser) c.63583A>T (p.Thr21195Ser) c.45199A>T (p.Thr15067Ser) c.66694A>T (p.Thr22232Ser) c.66691A>T (p.Thr22231Ser) c.66124A>T (p.Thr22042Ser) c.63466A>T (p.Thr21156Ser) c.63385A>T (p.Thr21129Ser) c.45148A>T (p.Thr15050Ser) c.35002A>T (p.Thr11668Ser) | |
| 2 | g.178573879T>C | CA349647827 | TTN,TTN-AS1 | c.64549A>G (p.Thr21517Ala) c.45634A>G (p.Thr15212Ala) c.45433A>G (p.Thr15145Ala) c.45058A>G (p.Thr15020Ala) c.72253A>G (p.Thr24085Ala) c.67330A>G (p.Thr22444Ala) n.596+2430T>C n.2044-8693T>C c.71350A>G (p.Thr23784Ala) c.45244A>G (p.Thr15082Ala) c.45103A>G (p.Thr15035Ala) c.71146A>G (p.Thr23716Ala) c.66544A>G (p.Thr22182Ala) c.66541A>G (p.Thr22181Ala) c.63583A>G (p.Thr21195Ala) c.45199A>G (p.Thr15067Ala) c.66694A>G (p.Thr22232Ala) c.66691A>G (p.Thr22231Ala) c.66124A>G (p.Thr22042Ala) c.63466A>G (p.Thr21156Ala) c.63385A>G (p.Thr21129Ala) c.45148A>G (p.Thr15050Ala) c.35002A>G (p.Thr11668Ala) | |
| 2 | g.178573879T>G | CA349647831 | TTN,TTN-AS1 | c.64549A>C (p.Thr21517Pro) c.45634A>C (p.Thr15212Pro) c.45433A>C (p.Thr15145Pro) c.45058A>C (p.Thr15020Pro) c.72253A>C (p.Thr24085Pro) c.67330A>C (p.Thr22444Pro) n.596+2430T>G n.2044-8693T>G c.71350A>C (p.Thr23784Pro) c.45244A>C (p.Thr15082Pro) c.45103A>C (p.Thr15035Pro) c.71146A>C (p.Thr23716Pro) c.66544A>C (p.Thr22182Pro) c.66541A>C (p.Thr22181Pro) c.63583A>C (p.Thr21195Pro) c.45199A>C (p.Thr15067Pro) c.66694A>C (p.Thr22232Pro) c.66691A>C (p.Thr22231Pro) c.66124A>C (p.Thr22042Pro) c.63466A>C (p.Thr21156Pro) c.63385A>C (p.Thr21129Pro) c.45148A>C (p.Thr15050Pro) c.35002A>C (p.Thr11668Pro) | |
| 2 | g.178573880A>C | CA430257476 | TTN,TTN-AS1 | c.64548T>G (p.Ser21516=) c.45633T>G (p.Ser15211=) c.45432T>G (p.Ser15144=) c.45057T>G (p.Ser15019=) c.72252T>G (p.Ser24084=) c.67329T>G (p.Ser22443=) n.596+2431A>C n.2044-8692A>C c.71349T>G (p.Ser23783=) c.45243T>G (p.Ser15081=) c.45102T>G (p.Ser15034=) c.71145T>G (p.Ser23715=) c.66543T>G (p.Ser22181=) c.66540T>G (p.Ser22180=) c.63582T>G (p.Ser21194=) c.45198T>G (p.Ser15066=) c.66693T>G (p.Ser22231=) c.66690T>G (p.Ser22230=) c.66123T>G (p.Ser22041=) c.63465T>G (p.Ser21155=) c.63384T>G (p.Ser21128=) c.45147T>G (p.Ser15049=) c.35001T>G (p.Ser11667=) |