| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178568820A= | CA1310530722 | TTN,TTN-AS1 | c.69608T= (p.Val23203=) c.50693T= (p.Val16898=) c.50492T= (p.Val16831=) c.50117T= (p.Val16706=) c.77312T= (p.Val25771=) c.72389T= (p.Val24130=) n.447-2480A= n.2044-13752A= c.76409T= (p.Val25470=) c.50303T= (p.Val16768=) c.50162T= (p.Val16721=) c.76205T= (p.Val25402=) c.71603T= (p.Val23868=) c.71600T= (p.Val23867=) c.68642T= (p.Val22881=) c.50258T= (p.Val16753=) c.71753T= (p.Val23918=) c.71750T= (p.Val23917=) c.71183T= (p.Val23728=) c.68525T= (p.Val22842=) c.68444T= (p.Val22815=) c.50207T= (p.Val16736=) c.40061T= (p.Val13354=) | |
| 2 | g.178568820A>C | CA349611287 | TTN,TTN-AS1 | c.69608T>G (p.Val23203Gly) c.50693T>G (p.Val16898Gly) c.50492T>G (p.Val16831Gly) c.50117T>G (p.Val16706Gly) c.77312T>G (p.Val25771Gly) c.72389T>G (p.Val24130Gly) n.447-2480A>C n.2044-13752A>C c.76409T>G (p.Val25470Gly) c.50303T>G (p.Val16768Gly) c.50162T>G (p.Val16721Gly) c.76205T>G (p.Val25402Gly) c.71603T>G (p.Val23868Gly) c.71600T>G (p.Val23867Gly) c.68642T>G (p.Val22881Gly) c.50258T>G (p.Val16753Gly) c.71753T>G (p.Val23918Gly) c.71750T>G (p.Val23917Gly) c.71183T>G (p.Val23728Gly) c.68525T>G (p.Val22842Gly) c.68444T>G (p.Val22815Gly) c.50207T>G (p.Val16736Gly) c.40061T>G (p.Val13354Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178568820A>G | CA349611289 | TTN,TTN-AS1 | c.69608T>C (p.Val23203Ala) c.50693T>C (p.Val16898Ala) c.50492T>C (p.Val16831Ala) c.50117T>C (p.Val16706Ala) c.77312T>C (p.Val25771Ala) c.72389T>C (p.Val24130Ala) n.447-2480A>G n.2044-13752A>G c.76409T>C (p.Val25470Ala) c.50303T>C (p.Val16768Ala) c.50162T>C (p.Val16721Ala) c.76205T>C (p.Val25402Ala) c.71603T>C (p.Val23868Ala) c.71600T>C (p.Val23867Ala) c.68642T>C (p.Val22881Ala) c.50258T>C (p.Val16753Ala) c.71753T>C (p.Val23918Ala) c.71750T>C (p.Val23917Ala) c.71183T>C (p.Val23728Ala) c.68525T>C (p.Val22842Ala) c.68444T>C (p.Val22815Ala) c.50207T>C (p.Val16736Ala) c.40061T>C (p.Val13354Ala) | gnomAD v4 |
| 2 | g.178568820A>T | CA349611291 | TTN,TTN-AS1 | c.69608T>A (p.Val23203Asp) c.50693T>A (p.Val16898Asp) c.50492T>A (p.Val16831Asp) c.50117T>A (p.Val16706Asp) c.77312T>A (p.Val25771Asp) c.72389T>A (p.Val24130Asp) n.447-2480A>T n.2044-13752A>T c.76409T>A (p.Val25470Asp) c.50303T>A (p.Val16768Asp) c.50162T>A (p.Val16721Asp) c.76205T>A (p.Val25402Asp) c.71603T>A (p.Val23868Asp) c.71600T>A (p.Val23867Asp) c.68642T>A (p.Val22881Asp) c.50258T>A (p.Val16753Asp) c.71753T>A (p.Val23918Asp) c.71750T>A (p.Val23917Asp) c.71183T>A (p.Val23728Asp) c.68525T>A (p.Val22842Asp) c.68444T>A (p.Val22815Asp) c.50207T>A (p.Val16736Asp) c.40061T>A (p.Val13354Asp) | |
| 2 | g.178568821C>A | CA349611293 | TTN,TTN-AS1 | c.69607G>T (p.Val23203Phe) c.50692G>T (p.Val16898Phe) c.50491G>T (p.Val16831Phe) c.50116G>T (p.Val16706Phe) c.77311G>T (p.Val25771Phe) c.72388G>T (p.Val24130Phe) n.447-2479C>A n.2044-13751C>A c.76408G>T (p.Val25470Phe) c.50302G>T (p.Val16768Phe) c.50161G>T (p.Val16721Phe) c.76204G>T (p.Val25402Phe) c.71602G>T (p.Val23868Phe) c.71599G>T (p.Val23867Phe) c.68641G>T (p.Val22881Phe) c.50257G>T (p.Val16753Phe) c.71752G>T (p.Val23918Phe) c.71749G>T (p.Val23917Phe) c.71182G>T (p.Val23728Phe) c.68524G>T (p.Val22842Phe) c.68443G>T (p.Val22815Phe) c.50206G>T (p.Val16736Phe) c.40060G>T (p.Val13354Phe) | |
| 2 | g.178568821C>G | CA349611295 | TTN,TTN-AS1 | c.69607G>C (p.Val23203Leu) c.50692G>C (p.Val16898Leu) c.50491G>C (p.Val16831Leu) c.50116G>C (p.Val16706Leu) c.77311G>C (p.Val25771Leu) c.72388G>C (p.Val24130Leu) n.447-2479C>G n.2044-13751C>G c.76408G>C (p.Val25470Leu) c.50302G>C (p.Val16768Leu) c.50161G>C (p.Val16721Leu) c.76204G>C (p.Val25402Leu) c.71602G>C (p.Val23868Leu) c.71599G>C (p.Val23867Leu) c.68641G>C (p.Val22881Leu) c.50257G>C (p.Val16753Leu) c.71752G>C (p.Val23918Leu) c.71749G>C (p.Val23917Leu) c.71182G>C (p.Val23728Leu) c.68524G>C (p.Val22842Leu) c.68443G>C (p.Val22815Leu) c.50206G>C (p.Val16736Leu) c.40060G>C (p.Val13354Leu) | |
| 2 | g.178568821C>T | CA349611297 | TTN,TTN-AS1 | c.69607G>A (p.Val23203Ile) c.50692G>A (p.Val16898Ile) c.50491G>A (p.Val16831Ile) c.50116G>A (p.Val16706Ile) c.77311G>A (p.Val25771Ile) c.72388G>A (p.Val24130Ile) n.447-2479C>T n.2044-13751C>T c.76408G>A (p.Val25470Ile) c.50302G>A (p.Val16768Ile) c.50161G>A (p.Val16721Ile) c.76204G>A (p.Val25402Ile) c.71602G>A (p.Val23868Ile) c.71599G>A (p.Val23867Ile) c.68641G>A (p.Val22881Ile) c.50257G>A (p.Val16753Ile) c.71752G>A (p.Val23918Ile) c.71749G>A (p.Val23917Ile) c.71182G>A (p.Val23728Ile) c.68524G>A (p.Val22842Ile) c.68443G>A (p.Val22815Ile) c.50206G>A (p.Val16736Ile) c.40060G>A (p.Val13354Ile) | |
| 2 | g.178568822T>A | CA349611299 | TTN,TTN-AS1 | c.69606A>T (p.Arg23202Ser) c.50691A>T (p.Arg16897Ser) c.50490A>T (p.Arg16830Ser) c.50115A>T (p.Arg16705Ser) c.77310A>T (p.Arg25770Ser) c.72387A>T (p.Arg24129Ser) n.447-2478T>A n.2044-13750T>A c.76407A>T (p.Arg25469Ser) c.50301A>T (p.Arg16767Ser) c.50160A>T (p.Arg16720Ser) c.76203A>T (p.Arg25401Ser) c.71601A>T (p.Arg23867Ser) c.71598A>T (p.Arg23866Ser) c.68640A>T (p.Arg22880Ser) c.50256A>T (p.Arg16752Ser) c.71751A>T (p.Arg23917Ser) c.71748A>T (p.Arg23916Ser) c.71181A>T (p.Arg23727Ser) c.68523A>T (p.Arg22841Ser) c.68442A>T (p.Arg22814Ser) c.50205A>T (p.Arg16735Ser) c.40059A>T (p.Arg13353Ser) | |
| 2 | g.178568822T>C | CA430253773 | TTN,TTN-AS1 | c.69606A>G (p.Arg23202=) c.50691A>G (p.Arg16897=) c.50490A>G (p.Arg16830=) c.50115A>G (p.Arg16705=) c.77310A>G (p.Arg25770=) c.72387A>G (p.Arg24129=) n.447-2478T>C n.2044-13750T>C c.76407A>G (p.Arg25469=) c.50301A>G (p.Arg16767=) c.50160A>G (p.Arg16720=) c.76203A>G (p.Arg25401=) c.71601A>G (p.Arg23867=) c.71598A>G (p.Arg23866=) c.68640A>G (p.Arg22880=) c.50256A>G (p.Arg16752=) c.71751A>G (p.Arg23917=) c.71748A>G (p.Arg23916=) c.71181A>G (p.Arg23727=) c.68523A>G (p.Arg22841=) c.68442A>G (p.Arg22814=) c.50205A>G (p.Arg16735=) c.40059A>G (p.Arg13353=) | |
| 2 | g.178568822T>G | CA349611300 | TTN,TTN-AS1 | c.69606A>C (p.Arg23202Ser) c.50691A>C (p.Arg16897Ser) c.50490A>C (p.Arg16830Ser) c.50115A>C (p.Arg16705Ser) c.77310A>C (p.Arg25770Ser) c.72387A>C (p.Arg24129Ser) n.447-2478T>G n.2044-13750T>G c.76407A>C (p.Arg25469Ser) c.50301A>C (p.Arg16767Ser) c.50160A>C (p.Arg16720Ser) c.76203A>C (p.Arg25401Ser) c.71601A>C (p.Arg23867Ser) c.71598A>C (p.Arg23866Ser) c.68640A>C (p.Arg22880Ser) c.50256A>C (p.Arg16752Ser) c.71751A>C (p.Arg23917Ser) c.71748A>C (p.Arg23916Ser) c.71181A>C (p.Arg23727Ser) c.68523A>C (p.Arg22841Ser) c.68442A>C (p.Arg22814Ser) c.50205A>C (p.Arg16735Ser) c.40059A>C (p.Arg13353Ser) | gnomAD v4 |
| 2 | g.178568823C>A | CA349611301 | TTN,TTN-AS1 | c.69605G>T (p.Arg23202Ile) c.50690G>T (p.Arg16897Ile) c.50489G>T (p.Arg16830Ile) c.50114G>T (p.Arg16705Ile) c.77309G>T (p.Arg25770Ile) c.72386G>T (p.Arg24129Ile) n.447-2477C>A n.2044-13749C>A c.76406G>T (p.Arg25469Ile) c.50300G>T (p.Arg16767Ile) c.50159G>T (p.Arg16720Ile) c.76202G>T (p.Arg25401Ile) c.71600G>T (p.Arg23867Ile) c.71597G>T (p.Arg23866Ile) c.68639G>T (p.Arg22880Ile) c.50255G>T (p.Arg16752Ile) c.71750G>T (p.Arg23917Ile) c.71747G>T (p.Arg23916Ile) c.71180G>T (p.Arg23727Ile) c.68522G>T (p.Arg22841Ile) c.68441G>T (p.Arg22814Ile) c.50204G>T (p.Arg16735Ile) c.40058G>T (p.Arg13353Ile) | |
| 2 | g.178568823C>G | CA349611305 | TTN,TTN-AS1 | c.69605G>C (p.Arg23202Thr) c.50690G>C (p.Arg16897Thr) c.50489G>C (p.Arg16830Thr) c.50114G>C (p.Arg16705Thr) c.77309G>C (p.Arg25770Thr) c.72386G>C (p.Arg24129Thr) n.447-2477C>G n.2044-13749C>G c.76406G>C (p.Arg25469Thr) c.50300G>C (p.Arg16767Thr) c.50159G>C (p.Arg16720Thr) c.76202G>C (p.Arg25401Thr) c.71600G>C (p.Arg23867Thr) c.71597G>C (p.Arg23866Thr) c.68639G>C (p.Arg22880Thr) c.50255G>C (p.Arg16752Thr) c.71750G>C (p.Arg23917Thr) c.71747G>C (p.Arg23916Thr) c.71180G>C (p.Arg23727Thr) c.68522G>C (p.Arg22841Thr) c.68441G>C (p.Arg22814Thr) c.50204G>C (p.Arg16735Thr) c.40058G>C (p.Arg13353Thr) | |
| 2 | g.178568823C>T | CA349611302 | TTN,TTN-AS1 | c.69605G>A (p.Arg23202Lys) c.50690G>A (p.Arg16897Lys) c.50489G>A (p.Arg16830Lys) c.50114G>A (p.Arg16705Lys) c.77309G>A (p.Arg25770Lys) c.72386G>A (p.Arg24129Lys) n.447-2477C>T n.2044-13749C>T c.76406G>A (p.Arg25469Lys) c.50300G>A (p.Arg16767Lys) c.50159G>A (p.Arg16720Lys) c.76202G>A (p.Arg25401Lys) c.71600G>A (p.Arg23867Lys) c.71597G>A (p.Arg23866Lys) c.68639G>A (p.Arg22880Lys) c.50255G>A (p.Arg16752Lys) c.71750G>A (p.Arg23917Lys) c.71747G>A (p.Arg23916Lys) c.71180G>A (p.Arg23727Lys) c.68522G>A (p.Arg22841Lys) c.68441G>A (p.Arg22814Lys) c.50204G>A (p.Arg16735Lys) c.40058G>A (p.Arg13353Lys) | |
| 2 | g.178568824T>A | CA349611307 | TTN,TTN-AS1 | c.69604A>T (p.Arg23202Ter) c.50689A>T (p.Arg16897Ter) c.50488A>T (p.Arg16830Ter) c.50113A>T (p.Arg16705Ter) c.77308A>T (p.Arg25770Ter) c.72385A>T (p.Arg24129Ter) n.447-2476T>A n.2044-13748T>A c.76405A>T (p.Arg25469Ter) c.50299A>T (p.Arg16767Ter) c.50158A>T (p.Arg16720Ter) c.76201A>T (p.Arg25401Ter) c.71599A>T (p.Arg23867Ter) c.71596A>T (p.Arg23866Ter) c.68638A>T (p.Arg22880Ter) c.50254A>T (p.Arg16752Ter) c.71749A>T (p.Arg23917Ter) c.71746A>T (p.Arg23916Ter) c.71179A>T (p.Arg23727Ter) c.68521A>T (p.Arg22841Ter) c.68440A>T (p.Arg22814Ter) c.50203A>T (p.Arg16735Ter) c.40057A>T (p.Arg13353Ter) | |
| 2 | g.178568824T>C | CA349611309 | TTN,TTN-AS1 | c.69604A>G (p.Arg23202Gly) c.50689A>G (p.Arg16897Gly) c.50488A>G (p.Arg16830Gly) c.50113A>G (p.Arg16705Gly) c.77308A>G (p.Arg25770Gly) c.72385A>G (p.Arg24129Gly) n.447-2476T>C n.2044-13748T>C c.76405A>G (p.Arg25469Gly) c.50299A>G (p.Arg16767Gly) c.50158A>G (p.Arg16720Gly) c.76201A>G (p.Arg25401Gly) c.71599A>G (p.Arg23867Gly) c.71596A>G (p.Arg23866Gly) c.68638A>G (p.Arg22880Gly) c.50254A>G (p.Arg16752Gly) c.71749A>G (p.Arg23917Gly) c.71746A>G (p.Arg23916Gly) c.71179A>G (p.Arg23727Gly) c.68521A>G (p.Arg22841Gly) c.68440A>G (p.Arg22814Gly) c.50203A>G (p.Arg16735Gly) c.40057A>G (p.Arg13353Gly) | |
| 2 | g.178568824T>G | CA430253777 | TTN,TTN-AS1 | c.69604A>C (p.Arg23202=) c.50689A>C (p.Arg16897=) c.50488A>C (p.Arg16830=) c.50113A>C (p.Arg16705=) c.77308A>C (p.Arg25770=) c.72385A>C (p.Arg24129=) n.447-2476T>G n.2044-13748T>G c.76405A>C (p.Arg25469=) c.50299A>C (p.Arg16767=) c.50158A>C (p.Arg16720=) c.76201A>C (p.Arg25401=) c.71599A>C (p.Arg23867=) c.71596A>C (p.Arg23866=) c.68638A>C (p.Arg22880=) c.50254A>C (p.Arg16752=) c.71749A>C (p.Arg23917=) c.71746A>C (p.Arg23916=) c.71179A>C (p.Arg23727=) c.68521A>C (p.Arg22841=) c.68440A>C (p.Arg22814=) c.50203A>C (p.Arg16735=) c.40057A>C (p.Arg13353=) | |
| 2 | g.178568825A= | CA1310530724 | TTN,TTN-AS1 | c.69603T= (p.Phe23201=) c.50688T= (p.Phe16896=) c.50487T= (p.Phe16829=) c.50112T= (p.Phe16704=) c.77307T= (p.Phe25769=) c.72384T= (p.Phe24128=) n.447-2475A= n.2044-13747A= c.76404T= (p.Phe25468=) c.50298T= (p.Phe16766=) c.50157T= (p.Phe16719=) c.76200T= (p.Phe25400=) c.71598T= (p.Phe23866=) c.71595T= (p.Phe23865=) c.68637T= (p.Phe22879=) c.50253T= (p.Phe16751=) c.71748T= (p.Phe23916=) c.71745T= (p.Phe23915=) c.71178T= (p.Phe23726=) c.68520T= (p.Phe22840=) c.68439T= (p.Phe22813=) c.50202T= (p.Phe16734=) c.40056T= (p.Phe13352=) | |
| 2 | g.178568825A>C | CA349611310 | TTN,TTN-AS1 | c.69603T>G (p.Phe23201Leu) c.50688T>G (p.Phe16896Leu) c.50487T>G (p.Phe16829Leu) c.50112T>G (p.Phe16704Leu) c.77307T>G (p.Phe25769Leu) c.72384T>G (p.Phe24128Leu) n.447-2475A>C n.2044-13747A>C c.76404T>G (p.Phe25468Leu) c.50298T>G (p.Phe16766Leu) c.50157T>G (p.Phe16719Leu) c.76200T>G (p.Phe25400Leu) c.71598T>G (p.Phe23866Leu) c.71595T>G (p.Phe23865Leu) c.68637T>G (p.Phe22879Leu) c.50253T>G (p.Phe16751Leu) c.71748T>G (p.Phe23916Leu) c.71745T>G (p.Phe23915Leu) c.71178T>G (p.Phe23726Leu) c.68520T>G (p.Phe22840Leu) c.68439T>G (p.Phe22813Leu) c.50202T>G (p.Phe16734Leu) c.40056T>G (p.Phe13352Leu) | |
| 2 | g.178568825A>G | CA430253780 | TTN,TTN-AS1 | c.69603T>C (p.Phe23201=) c.50688T>C (p.Phe16896=) c.50487T>C (p.Phe16829=) c.50112T>C (p.Phe16704=) c.77307T>C (p.Phe25769=) c.72384T>C (p.Phe24128=) n.447-2475A>G n.2044-13747A>G c.76404T>C (p.Phe25468=) c.50298T>C (p.Phe16766=) c.50157T>C (p.Phe16719=) c.76200T>C (p.Phe25400=) c.71598T>C (p.Phe23866=) c.71595T>C (p.Phe23865=) c.68637T>C (p.Phe22879=) c.50253T>C (p.Phe16751=) c.71748T>C (p.Phe23916=) c.71745T>C (p.Phe23915=) c.71178T>C (p.Phe23726=) c.68520T>C (p.Phe22840=) c.68439T>C (p.Phe22813=) c.50202T>C (p.Phe16734=) c.40056T>C (p.Phe13352=) | dbSNP gnomAD v4 |
| 2 | g.178568825A>T | CA1989794 | TTN,TTN-AS1 | c.69603T>A (p.Phe23201Leu) c.50688T>A (p.Phe16896Leu) c.50487T>A (p.Phe16829Leu) c.50112T>A (p.Phe16704Leu) c.77307T>A (p.Phe25769Leu) c.72384T>A (p.Phe24128Leu) n.447-2475A>T n.2044-13747A>T c.76404T>A (p.Phe25468Leu) c.50298T>A (p.Phe16766Leu) c.50157T>A (p.Phe16719Leu) c.76200T>A (p.Phe25400Leu) c.71598T>A (p.Phe23866Leu) c.71595T>A (p.Phe23865Leu) c.68637T>A (p.Phe22879Leu) c.50253T>A (p.Phe16751Leu) c.71748T>A (p.Phe23916Leu) c.71745T>A (p.Phe23915Leu) c.71178T>A (p.Phe23726Leu) c.68520T>A (p.Phe22840Leu) c.68439T>A (p.Phe22813Leu) c.50202T>A (p.Phe16734Leu) c.40056T>A (p.Phe13352Leu) | dbSNP ExAC gnomAD v2 |
| 2 | g.178568826A>C | CA349611314 | TTN,TTN-AS1 | c.69602T>G (p.Phe23201Cys) c.50687T>G (p.Phe16896Cys) c.50486T>G (p.Phe16829Cys) c.50111T>G (p.Phe16704Cys) c.77306T>G (p.Phe25769Cys) c.72383T>G (p.Phe24128Cys) n.447-2474A>C n.2044-13746A>C c.76403T>G (p.Phe25468Cys) c.50297T>G (p.Phe16766Cys) c.50156T>G (p.Phe16719Cys) c.76199T>G (p.Phe25400Cys) c.71597T>G (p.Phe23866Cys) c.71594T>G (p.Phe23865Cys) c.68636T>G (p.Phe22879Cys) c.50252T>G (p.Phe16751Cys) c.71747T>G (p.Phe23916Cys) c.71744T>G (p.Phe23915Cys) c.71177T>G (p.Phe23726Cys) c.68519T>G (p.Phe22840Cys) c.68438T>G (p.Phe22813Cys) c.50201T>G (p.Phe16734Cys) c.40055T>G (p.Phe13352Cys) | |
| 2 | g.178568826A>G | CA349611317 | TTN,TTN-AS1 | c.69602T>C (p.Phe23201Ser) c.50687T>C (p.Phe16896Ser) c.50486T>C (p.Phe16829Ser) c.50111T>C (p.Phe16704Ser) c.77306T>C (p.Phe25769Ser) c.72383T>C (p.Phe24128Ser) n.447-2474A>G n.2044-13746A>G c.76403T>C (p.Phe25468Ser) c.50297T>C (p.Phe16766Ser) c.50156T>C (p.Phe16719Ser) c.76199T>C (p.Phe25400Ser) c.71597T>C (p.Phe23866Ser) c.71594T>C (p.Phe23865Ser) c.68636T>C (p.Phe22879Ser) c.50252T>C (p.Phe16751Ser) c.71747T>C (p.Phe23916Ser) c.71744T>C (p.Phe23915Ser) c.71177T>C (p.Phe23726Ser) c.68519T>C (p.Phe22840Ser) c.68438T>C (p.Phe22813Ser) c.50201T>C (p.Phe16734Ser) c.40055T>C (p.Phe13352Ser) | |
| 2 | g.178568826A>T | CA349611322 | TTN,TTN-AS1 | c.69602T>A (p.Phe23201Tyr) c.50687T>A (p.Phe16896Tyr) c.50486T>A (p.Phe16829Tyr) c.50111T>A (p.Phe16704Tyr) c.77306T>A (p.Phe25769Tyr) c.72383T>A (p.Phe24128Tyr) n.447-2474A>T n.2044-13746A>T c.76403T>A (p.Phe25468Tyr) c.50297T>A (p.Phe16766Tyr) c.50156T>A (p.Phe16719Tyr) c.76199T>A (p.Phe25400Tyr) c.71597T>A (p.Phe23866Tyr) c.71594T>A (p.Phe23865Tyr) c.68636T>A (p.Phe22879Tyr) c.50252T>A (p.Phe16751Tyr) c.71747T>A (p.Phe23916Tyr) c.71744T>A (p.Phe23915Tyr) c.71177T>A (p.Phe23726Tyr) c.68519T>A (p.Phe22840Tyr) c.68438T>A (p.Phe22813Tyr) c.50201T>A (p.Phe16734Tyr) c.40055T>A (p.Phe13352Tyr) | |
| 2 | g.178568827A>C | CA349611323 | TTN,TTN-AS1 | c.69601T>G (p.Phe23201Val) c.50686T>G (p.Phe16896Val) c.50485T>G (p.Phe16829Val) c.50110T>G (p.Phe16704Val) c.77305T>G (p.Phe25769Val) c.72382T>G (p.Phe24128Val) n.447-2473A>C n.2044-13745A>C c.76402T>G (p.Phe25468Val) c.50296T>G (p.Phe16766Val) c.50155T>G (p.Phe16719Val) c.76198T>G (p.Phe25400Val) c.71596T>G (p.Phe23866Val) c.71593T>G (p.Phe23865Val) c.68635T>G (p.Phe22879Val) c.50251T>G (p.Phe16751Val) c.71746T>G (p.Phe23916Val) c.71743T>G (p.Phe23915Val) c.71176T>G (p.Phe23726Val) c.68518T>G (p.Phe22840Val) c.68437T>G (p.Phe22813Val) c.50200T>G (p.Phe16734Val) c.40054T>G (p.Phe13352Val) | |
| 2 | g.178568827A>G | CA349611326 | TTN,TTN-AS1 | c.69601T>C (p.Phe23201Leu) c.50686T>C (p.Phe16896Leu) c.50485T>C (p.Phe16829Leu) c.50110T>C (p.Phe16704Leu) c.77305T>C (p.Phe25769Leu) c.72382T>C (p.Phe24128Leu) n.447-2473A>G n.2044-13745A>G c.76402T>C (p.Phe25468Leu) c.50296T>C (p.Phe16766Leu) c.50155T>C (p.Phe16719Leu) c.76198T>C (p.Phe25400Leu) c.71596T>C (p.Phe23866Leu) c.71593T>C (p.Phe23865Leu) c.68635T>C (p.Phe22879Leu) c.50251T>C (p.Phe16751Leu) c.71746T>C (p.Phe23916Leu) c.71743T>C (p.Phe23915Leu) c.71176T>C (p.Phe23726Leu) c.68518T>C (p.Phe22840Leu) c.68437T>C (p.Phe22813Leu) c.50200T>C (p.Phe16734Leu) c.40054T>C (p.Phe13352Leu) | |
| 2 | g.178568827A>T | CA349611329 | TTN,TTN-AS1 | c.69601T>A (p.Phe23201Ile) c.50686T>A (p.Phe16896Ile) c.50485T>A (p.Phe16829Ile) c.50110T>A (p.Phe16704Ile) c.77305T>A (p.Phe25769Ile) c.72382T>A (p.Phe24128Ile) n.447-2473A>T n.2044-13745A>T c.76402T>A (p.Phe25468Ile) c.50296T>A (p.Phe16766Ile) c.50155T>A (p.Phe16719Ile) c.76198T>A (p.Phe25400Ile) c.71596T>A (p.Phe23866Ile) c.71593T>A (p.Phe23865Ile) c.68635T>A (p.Phe22879Ile) c.50251T>A (p.Phe16751Ile) c.71746T>A (p.Phe23916Ile) c.71743T>A (p.Phe23915Ile) c.71176T>A (p.Phe23726Ile) c.68518T>A (p.Phe22840Ile) c.68437T>A (p.Phe22813Ile) c.50200T>A (p.Phe16734Ile) c.40054T>A (p.Phe13352Ile) | |
| 2 | g.178568828A>C | CA430253785 | TTN,TTN-AS1 | c.69600T>G (p.Leu23200=) c.50685T>G (p.Leu16895=) c.50484T>G (p.Leu16828=) c.50109T>G (p.Leu16703=) c.77304T>G (p.Leu25768=) c.72381T>G (p.Leu24127=) n.447-2472A>C n.2044-13744A>C c.76401T>G (p.Leu25467=) c.50295T>G (p.Leu16765=) c.50154T>G (p.Leu16718=) c.76197T>G (p.Leu25399=) c.71595T>G (p.Leu23865=) c.71592T>G (p.Leu23864=) c.68634T>G (p.Leu22878=) c.50250T>G (p.Leu16750=) c.71745T>G (p.Leu23915=) c.71742T>G (p.Leu23914=) c.71175T>G (p.Leu23725=) c.68517T>G (p.Leu22839=) c.68436T>G (p.Leu22812=) c.50199T>G (p.Leu16733=) c.40053T>G (p.Leu13351=) | |
| 2 | g.178568828A>G | CA430253791 | TTN,TTN-AS1 | c.69600T>C (p.Leu23200=) c.50685T>C (p.Leu16895=) c.50484T>C (p.Leu16828=) c.50109T>C (p.Leu16703=) c.77304T>C (p.Leu25768=) c.72381T>C (p.Leu24127=) n.447-2472A>G n.2044-13744A>G c.76401T>C (p.Leu25467=) c.50295T>C (p.Leu16765=) c.50154T>C (p.Leu16718=) c.76197T>C (p.Leu25399=) c.71595T>C (p.Leu23865=) c.71592T>C (p.Leu23864=) c.68634T>C (p.Leu22878=) c.50250T>C (p.Leu16750=) c.71745T>C (p.Leu23915=) c.71742T>C (p.Leu23914=) c.71175T>C (p.Leu23725=) c.68517T>C (p.Leu22839=) c.68436T>C (p.Leu22812=) c.50199T>C (p.Leu16733=) c.40053T>C (p.Leu13351=) | |
| 2 | g.178568828A>T | CA430253788 | TTN,TTN-AS1 | c.69600T>A (p.Leu23200=) c.50685T>A (p.Leu16895=) c.50484T>A (p.Leu16828=) c.50109T>A (p.Leu16703=) c.77304T>A (p.Leu25768=) c.72381T>A (p.Leu24127=) n.447-2472A>T n.2044-13744A>T c.76401T>A (p.Leu25467=) c.50295T>A (p.Leu16765=) c.50154T>A (p.Leu16718=) c.76197T>A (p.Leu25399=) c.71595T>A (p.Leu23865=) c.71592T>A (p.Leu23864=) c.68634T>A (p.Leu22878=) c.50250T>A (p.Leu16750=) c.71745T>A (p.Leu23915=) c.71742T>A (p.Leu23914=) c.71175T>A (p.Leu23725=) c.68517T>A (p.Leu22839=) c.68436T>A (p.Leu22812=) c.50199T>A (p.Leu16733=) c.40053T>A (p.Leu13351=) | |
| 2 | g.178568829A= | CA1310530726 | TTN,TTN-AS1 | c.69599T= (p.Leu23200=) c.50684T= (p.Leu16895=) c.50483T= (p.Leu16828=) c.50108T= (p.Leu16703=) c.77303T= (p.Leu25768=) c.72380T= (p.Leu24127=) n.447-2471A= n.2044-13743A= c.76400T= (p.Leu25467=) c.50294T= (p.Leu16765=) c.50153T= (p.Leu16718=) c.76196T= (p.Leu25399=) c.71594T= (p.Leu23865=) c.71591T= (p.Leu23864=) c.68633T= (p.Leu22878=) c.50249T= (p.Leu16750=) c.71744T= (p.Leu23915=) c.71741T= (p.Leu23914=) c.71174T= (p.Leu23725=) c.68516T= (p.Leu22839=) c.68435T= (p.Leu22812=) c.50198T= (p.Leu16733=) c.40052T= (p.Leu13351=) | |
| 2 | g.178568829A>C | CA349611332 | TTN,TTN-AS1 | c.69599T>G (p.Leu23200Arg) c.50684T>G (p.Leu16895Arg) c.50483T>G (p.Leu16828Arg) c.50108T>G (p.Leu16703Arg) c.77303T>G (p.Leu25768Arg) c.72380T>G (p.Leu24127Arg) n.447-2471A>C n.2044-13743A>C c.76400T>G (p.Leu25467Arg) c.50294T>G (p.Leu16765Arg) c.50153T>G (p.Leu16718Arg) c.76196T>G (p.Leu25399Arg) c.71594T>G (p.Leu23865Arg) c.71591T>G (p.Leu23864Arg) c.68633T>G (p.Leu22878Arg) c.50249T>G (p.Leu16750Arg) c.71744T>G (p.Leu23915Arg) c.71741T>G (p.Leu23914Arg) c.71174T>G (p.Leu23725Arg) c.68516T>G (p.Leu22839Arg) c.68435T>G (p.Leu22812Arg) c.50198T>G (p.Leu16733Arg) c.40052T>G (p.Leu13351Arg) | |
| 2 | g.178568829A>G | CA1989795 | TTN,TTN-AS1 | c.69599T>C (p.Leu23200Pro) c.50684T>C (p.Leu16895Pro) c.50483T>C (p.Leu16828Pro) c.50108T>C (p.Leu16703Pro) c.77303T>C (p.Leu25768Pro) c.72380T>C (p.Leu24127Pro) n.447-2471A>G n.2044-13743A>G c.76400T>C (p.Leu25467Pro) c.50294T>C (p.Leu16765Pro) c.50153T>C (p.Leu16718Pro) c.76196T>C (p.Leu25399Pro) c.71594T>C (p.Leu23865Pro) c.71591T>C (p.Leu23864Pro) c.68633T>C (p.Leu22878Pro) c.50249T>C (p.Leu16750Pro) c.71744T>C (p.Leu23915Pro) c.71741T>C (p.Leu23914Pro) c.71174T>C (p.Leu23725Pro) c.68516T>C (p.Leu22839Pro) c.68435T>C (p.Leu22812Pro) c.50198T>C (p.Leu16733Pro) c.40052T>C (p.Leu13351Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178568829A>T | CA349611337 | TTN,TTN-AS1 | c.69599T>A (p.Leu23200His) c.50684T>A (p.Leu16895His) c.50483T>A (p.Leu16828His) c.50108T>A (p.Leu16703His) c.77303T>A (p.Leu25768His) c.72380T>A (p.Leu24127His) n.447-2471A>T n.2044-13743A>T c.76400T>A (p.Leu25467His) c.50294T>A (p.Leu16765His) c.50153T>A (p.Leu16718His) c.76196T>A (p.Leu25399His) c.71594T>A (p.Leu23865His) c.71591T>A (p.Leu23864His) c.68633T>A (p.Leu22878His) c.50249T>A (p.Leu16750His) c.71744T>A (p.Leu23915His) c.71741T>A (p.Leu23914His) c.71174T>A (p.Leu23725His) c.68516T>A (p.Leu22839His) c.68435T>A (p.Leu22812His) c.50198T>A (p.Leu16733His) c.40052T>A (p.Leu13351His) | |
| 2 | g.178568830G>A | CA349611341 | TTN,TTN-AS1 | c.69598C>T (p.Leu23200Phe) c.50683C>T (p.Leu16895Phe) c.50482C>T (p.Leu16828Phe) c.50107C>T (p.Leu16703Phe) c.77302C>T (p.Leu25768Phe) c.72379C>T (p.Leu24127Phe) n.447-2470G>A n.2044-13742G>A c.76399C>T (p.Leu25467Phe) c.50293C>T (p.Leu16765Phe) c.50152C>T (p.Leu16718Phe) c.76195C>T (p.Leu25399Phe) c.71593C>T (p.Leu23865Phe) c.71590C>T (p.Leu23864Phe) c.68632C>T (p.Leu22878Phe) c.50248C>T (p.Leu16750Phe) c.71743C>T (p.Leu23915Phe) c.71740C>T (p.Leu23914Phe) c.71173C>T (p.Leu23725Phe) c.68515C>T (p.Leu22839Phe) c.68434C>T (p.Leu22812Phe) c.50197C>T (p.Leu16733Phe) c.40051C>T (p.Leu13351Phe) | |
| 2 | g.178568830G>C | CA349611346 | TTN,TTN-AS1 | c.69598C>G (p.Leu23200Val) c.50683C>G (p.Leu16895Val) c.50482C>G (p.Leu16828Val) c.50107C>G (p.Leu16703Val) c.77302C>G (p.Leu25768Val) c.72379C>G (p.Leu24127Val) n.447-2470G>C n.2044-13742G>C c.76399C>G (p.Leu25467Val) c.50293C>G (p.Leu16765Val) c.50152C>G (p.Leu16718Val) c.76195C>G (p.Leu25399Val) c.71593C>G (p.Leu23865Val) c.71590C>G (p.Leu23864Val) c.68632C>G (p.Leu22878Val) c.50248C>G (p.Leu16750Val) c.71743C>G (p.Leu23915Val) c.71740C>G (p.Leu23914Val) c.71173C>G (p.Leu23725Val) c.68515C>G (p.Leu22839Val) c.68434C>G (p.Leu22812Val) c.50197C>G (p.Leu16733Val) c.40051C>G (p.Leu13351Val) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178568830G= | CA1310530727 | TTN,TTN-AS1 | c.69598C= (p.Leu23200=) c.50683C= (p.Leu16895=) c.50482C= (p.Leu16828=) c.50107C= (p.Leu16703=) c.77302C= (p.Leu25768=) c.72379C= (p.Leu24127=) n.447-2470G= n.2044-13742G= c.76399C= (p.Leu25467=) c.50293C= (p.Leu16765=) c.50152C= (p.Leu16718=) c.76195C= (p.Leu25399=) c.71593C= (p.Leu23865=) c.71590C= (p.Leu23864=) c.68632C= (p.Leu22878=) c.50248C= (p.Leu16750=) c.71743C= (p.Leu23915=) c.71740C= (p.Leu23914=) c.71173C= (p.Leu23725=) c.68515C= (p.Leu22839=) c.68434C= (p.Leu22812=) c.50197C= (p.Leu16733=) c.40051C= (p.Leu13351=) | |
| 2 | g.178568830G>T | CA1989796 | TTN,TTN-AS1 | c.69598C>A (p.Leu23200Ile) c.50683C>A (p.Leu16895Ile) c.50482C>A (p.Leu16828Ile) c.50107C>A (p.Leu16703Ile) c.77302C>A (p.Leu25768Ile) c.72379C>A (p.Leu24127Ile) n.447-2470G>T n.2044-13742G>T c.76399C>A (p.Leu25467Ile) c.50293C>A (p.Leu16765Ile) c.50152C>A (p.Leu16718Ile) c.76195C>A (p.Leu25399Ile) c.71593C>A (p.Leu23865Ile) c.71590C>A (p.Leu23864Ile) c.68632C>A (p.Leu22878Ile) c.50248C>A (p.Leu16750Ile) c.71743C>A (p.Leu23915Ile) c.71740C>A (p.Leu23914Ile) c.71173C>A (p.Leu23725Ile) c.68515C>A (p.Leu22839Ile) c.68434C>A (p.Leu22812Ile) c.50197C>A (p.Leu16733Ile) c.40051C>A (p.Leu13351Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178568831A= | CA1310530730 | TTN,TTN-AS1 | c.69597T= (p.Tyr23199=) c.50682T= (p.Tyr16894=) c.50481T= (p.Tyr16827=) c.50106T= (p.Tyr16702=) c.77301T= (p.Tyr25767=) c.72378T= (p.Tyr24126=) n.447-2469A= n.2044-13741A= c.76398T= (p.Tyr25466=) c.50292T= (p.Tyr16764=) c.50151T= (p.Tyr16717=) c.76194T= (p.Tyr25398=) c.71592T= (p.Tyr23864=) c.71589T= (p.Tyr23863=) c.68631T= (p.Tyr22877=) c.50247T= (p.Tyr16749=) c.71742T= (p.Tyr23914=) c.71739T= (p.Tyr23913=) c.71172T= (p.Tyr23724=) c.68514T= (p.Tyr22838=) c.68433T= (p.Tyr22811=) c.50196T= (p.Tyr16732=) c.40050T= (p.Tyr13350=) | |
| 2 | g.178568831A>C | CA349611350 | TTN,TTN-AS1 | c.69597T>G (p.Tyr23199Ter) c.50682T>G (p.Tyr16894Ter) c.50481T>G (p.Tyr16827Ter) c.50106T>G (p.Tyr16702Ter) c.77301T>G (p.Tyr25767Ter) c.72378T>G (p.Tyr24126Ter) n.447-2469A>C n.2044-13741A>C c.76398T>G (p.Tyr25466Ter) c.50292T>G (p.Tyr16764Ter) c.50151T>G (p.Tyr16717Ter) c.76194T>G (p.Tyr25398Ter) c.71592T>G (p.Tyr23864Ter) c.71589T>G (p.Tyr23863Ter) c.68631T>G (p.Tyr22877Ter) c.50247T>G (p.Tyr16749Ter) c.71742T>G (p.Tyr23914Ter) c.71739T>G (p.Tyr23913Ter) c.71172T>G (p.Tyr23724Ter) c.68514T>G (p.Tyr22838Ter) c.68433T>G (p.Tyr22811Ter) c.50196T>G (p.Tyr16732Ter) c.40050T>G (p.Tyr13350Ter) | |
| 2 | g.178568831A>G | CA430253798 | TTN,TTN-AS1 | c.69597T>C (p.Tyr23199=) c.50682T>C (p.Tyr16894=) c.50481T>C (p.Tyr16827=) c.50106T>C (p.Tyr16702=) c.77301T>C (p.Tyr25767=) c.72378T>C (p.Tyr24126=) n.447-2469A>G n.2044-13741A>G c.76398T>C (p.Tyr25466=) c.50292T>C (p.Tyr16764=) c.50151T>C (p.Tyr16717=) c.76194T>C (p.Tyr25398=) c.71592T>C (p.Tyr23864=) c.71589T>C (p.Tyr23863=) c.68631T>C (p.Tyr22877=) c.50247T>C (p.Tyr16749=) c.71742T>C (p.Tyr23914=) c.71739T>C (p.Tyr23913=) c.71172T>C (p.Tyr23724=) c.68514T>C (p.Tyr22838=) c.68433T>C (p.Tyr22811=) c.50196T>C (p.Tyr16732=) c.40050T>C (p.Tyr13350=) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178568831A>T | CA349611353 | TTN,TTN-AS1 | c.69597T>A (p.Tyr23199Ter) c.50682T>A (p.Tyr16894Ter) c.50481T>A (p.Tyr16827Ter) c.50106T>A (p.Tyr16702Ter) c.77301T>A (p.Tyr25767Ter) c.72378T>A (p.Tyr24126Ter) n.447-2469A>T n.2044-13741A>T c.76398T>A (p.Tyr25466Ter) c.50292T>A (p.Tyr16764Ter) c.50151T>A (p.Tyr16717Ter) c.76194T>A (p.Tyr25398Ter) c.71592T>A (p.Tyr23864Ter) c.71589T>A (p.Tyr23863Ter) c.68631T>A (p.Tyr22877Ter) c.50247T>A (p.Tyr16749Ter) c.71742T>A (p.Tyr23914Ter) c.71739T>A (p.Tyr23913Ter) c.71172T>A (p.Tyr23724Ter) c.68514T>A (p.Tyr22838Ter) c.68433T>A (p.Tyr22811Ter) c.50196T>A (p.Tyr16732Ter) c.40050T>A (p.Tyr13350Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178568832T>A | CA349611356 | TTN,TTN-AS1 | c.69596A>T (p.Tyr23199Phe) c.50681A>T (p.Tyr16894Phe) c.50480A>T (p.Tyr16827Phe) c.50105A>T (p.Tyr16702Phe) c.77300A>T (p.Tyr25767Phe) c.72377A>T (p.Tyr24126Phe) n.447-2468T>A n.2044-13740T>A c.76397A>T (p.Tyr25466Phe) c.50291A>T (p.Tyr16764Phe) c.50150A>T (p.Tyr16717Phe) c.76193A>T (p.Tyr25398Phe) c.71591A>T (p.Tyr23864Phe) c.71588A>T (p.Tyr23863Phe) c.68630A>T (p.Tyr22877Phe) c.50246A>T (p.Tyr16749Phe) c.71741A>T (p.Tyr23914Phe) c.71738A>T (p.Tyr23913Phe) c.71171A>T (p.Tyr23724Phe) c.68513A>T (p.Tyr22838Phe) c.68432A>T (p.Tyr22811Phe) c.50195A>T (p.Tyr16732Phe) c.40049A>T (p.Tyr13350Phe) | |
| 2 | g.178568832T>C | CA349611358 | TTN,TTN-AS1 | c.69596A>G (p.Tyr23199Cys) c.50681A>G (p.Tyr16894Cys) c.50480A>G (p.Tyr16827Cys) c.50105A>G (p.Tyr16702Cys) c.77300A>G (p.Tyr25767Cys) c.72377A>G (p.Tyr24126Cys) n.447-2468T>C n.2044-13740T>C c.76397A>G (p.Tyr25466Cys) c.50291A>G (p.Tyr16764Cys) c.50150A>G (p.Tyr16717Cys) c.76193A>G (p.Tyr25398Cys) c.71591A>G (p.Tyr23864Cys) c.71588A>G (p.Tyr23863Cys) c.68630A>G (p.Tyr22877Cys) c.50246A>G (p.Tyr16749Cys) c.71741A>G (p.Tyr23914Cys) c.71738A>G (p.Tyr23913Cys) c.71171A>G (p.Tyr23724Cys) c.68513A>G (p.Tyr22838Cys) c.68432A>G (p.Tyr22811Cys) c.50195A>G (p.Tyr16732Cys) c.40049A>G (p.Tyr13350Cys) | |
| 2 | g.178568832T>G | CA349611361 | TTN,TTN-AS1 | c.69596A>C (p.Tyr23199Ser) c.50681A>C (p.Tyr16894Ser) c.50480A>C (p.Tyr16827Ser) c.50105A>C (p.Tyr16702Ser) c.77300A>C (p.Tyr25767Ser) c.72377A>C (p.Tyr24126Ser) n.447-2468T>G n.2044-13740T>G c.76397A>C (p.Tyr25466Ser) c.50291A>C (p.Tyr16764Ser) c.50150A>C (p.Tyr16717Ser) c.76193A>C (p.Tyr25398Ser) c.71591A>C (p.Tyr23864Ser) c.71588A>C (p.Tyr23863Ser) c.68630A>C (p.Tyr22877Ser) c.50246A>C (p.Tyr16749Ser) c.71741A>C (p.Tyr23914Ser) c.71738A>C (p.Tyr23913Ser) c.71171A>C (p.Tyr23724Ser) c.68513A>C (p.Tyr22838Ser) c.68432A>C (p.Tyr22811Ser) c.50195A>C (p.Tyr16732Ser) c.40049A>C (p.Tyr13350Ser) | |
| 2 | g.178568833A= | CA1310530733 | TTN,TTN-AS1 | c.69595T= (p.Tyr23199=) c.50680T= (p.Tyr16894=) c.50479T= (p.Tyr16827=) c.50104T= (p.Tyr16702=) c.77299T= (p.Tyr25767=) c.72376T= (p.Tyr24126=) n.447-2467A= n.2044-13739A= c.76396T= (p.Tyr25466=) c.50290T= (p.Tyr16764=) c.50149T= (p.Tyr16717=) c.76192T= (p.Tyr25398=) c.71590T= (p.Tyr23864=) c.71587T= (p.Tyr23863=) c.68629T= (p.Tyr22877=) c.50245T= (p.Tyr16749=) c.71740T= (p.Tyr23914=) c.71737T= (p.Tyr23913=) c.71170T= (p.Tyr23724=) c.68512T= (p.Tyr22838=) c.68431T= (p.Tyr22811=) c.50194T= (p.Tyr16732=) c.40048T= (p.Tyr13350=) | |
| 2 | g.178568833A>C | CA349611363 | TTN,TTN-AS1 | c.69595T>G (p.Tyr23199Asp) c.50680T>G (p.Tyr16894Asp) c.50479T>G (p.Tyr16827Asp) c.50104T>G (p.Tyr16702Asp) c.77299T>G (p.Tyr25767Asp) c.72376T>G (p.Tyr24126Asp) n.447-2467A>C n.2044-13739A>C c.76396T>G (p.Tyr25466Asp) c.50290T>G (p.Tyr16764Asp) c.50149T>G (p.Tyr16717Asp) c.76192T>G (p.Tyr25398Asp) c.71590T>G (p.Tyr23864Asp) c.71587T>G (p.Tyr23863Asp) c.68629T>G (p.Tyr22877Asp) c.50245T>G (p.Tyr16749Asp) c.71740T>G (p.Tyr23914Asp) c.71737T>G (p.Tyr23913Asp) c.71170T>G (p.Tyr23724Asp) c.68512T>G (p.Tyr22838Asp) c.68431T>G (p.Tyr22811Asp) c.50194T>G (p.Tyr16732Asp) c.40048T>G (p.Tyr13350Asp) | |
| 2 | g.178568833A>G | CA349611366 | TTN,TTN-AS1 | c.69595T>C (p.Tyr23199His) c.50680T>C (p.Tyr16894His) c.50479T>C (p.Tyr16827His) c.50104T>C (p.Tyr16702His) c.77299T>C (p.Tyr25767His) c.72376T>C (p.Tyr24126His) n.447-2467A>G n.2044-13739A>G c.76396T>C (p.Tyr25466His) c.50290T>C (p.Tyr16764His) c.50149T>C (p.Tyr16717His) c.76192T>C (p.Tyr25398His) c.71590T>C (p.Tyr23864His) c.71587T>C (p.Tyr23863His) c.68629T>C (p.Tyr22877His) c.50245T>C (p.Tyr16749His) c.71740T>C (p.Tyr23914His) c.71737T>C (p.Tyr23913His) c.71170T>C (p.Tyr23724His) c.68512T>C (p.Tyr22838His) c.68431T>C (p.Tyr22811His) c.50194T>C (p.Tyr16732His) c.40048T>C (p.Tyr13350His) | |
| 2 | g.178568833A>T | CA349611368 | TTN,TTN-AS1 | c.69595T>A (p.Tyr23199Asn) c.50680T>A (p.Tyr16894Asn) c.50479T>A (p.Tyr16827Asn) c.50104T>A (p.Tyr16702Asn) c.77299T>A (p.Tyr25767Asn) c.72376T>A (p.Tyr24126Asn) n.447-2467A>T n.2044-13739A>T c.76396T>A (p.Tyr25466Asn) c.50290T>A (p.Tyr16764Asn) c.50149T>A (p.Tyr16717Asn) c.76192T>A (p.Tyr25398Asn) c.71590T>A (p.Tyr23864Asn) c.71587T>A (p.Tyr23863Asn) c.68629T>A (p.Tyr22877Asn) c.50245T>A (p.Tyr16749Asn) c.71740T>A (p.Tyr23914Asn) c.71737T>A (p.Tyr23913Asn) c.71170T>A (p.Tyr23724Asn) c.68512T>A (p.Tyr22838Asn) c.68431T>A (p.Tyr22811Asn) c.50194T>A (p.Tyr16732Asn) c.40048T>A (p.Tyr13350Asn) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178568833dup | CA2586965267 | TTN,TTN-AS1 | c.69595dup (p.Tyr23199LeufsTer4) c.50680dup (p.Tyr16894LeufsTer4) c.50479dup (p.Tyr16827LeufsTer4) c.50104dup (p.Tyr16702LeufsTer4) c.77299dup (p.Tyr25767LeufsTer4) c.72376dup (p.Tyr24126LeufsTer4) n.447-2467dup n.2044-13739dup c.76396dup (p.Tyr25466LeufsTer4) c.50290dup (p.Tyr16764LeufsTer4) c.50149dup (p.Tyr16717LeufsTer4) c.76192dup (p.Tyr25398LeufsTer4) c.71590dup (p.Tyr23864LeufsTer4) c.71587dup (p.Tyr23863LeufsTer4) c.68629dup (p.Tyr22877LeufsTer4) c.50245dup (p.Tyr16749LeufsTer4) c.71740dup (p.Tyr23914LeufsTer4) c.71737dup (p.Tyr23913LeufsTer4) c.71170dup (p.Tyr23724LeufsTer4) c.68512dup (p.Tyr22838LeufsTer4) c.68431dup (p.Tyr22811LeufsTer4) c.50194dup (p.Tyr16732LeufsTer4) c.40048dup (p.Tyr13350LeufsTer4) | ClinVar |
| 2 | g.178568834T>A | CA349611372 | TTN,TTN-AS1 | c.69594A>T (p.Glu23198Asp) c.50679A>T (p.Glu16893Asp) c.50478A>T (p.Glu16826Asp) c.50103A>T (p.Glu16701Asp) c.77298A>T (p.Glu25766Asp) c.72375A>T (p.Glu24125Asp) n.447-2466T>A n.2044-13738T>A c.76395A>T (p.Glu25465Asp) c.50289A>T (p.Glu16763Asp) c.50148A>T (p.Glu16716Asp) c.76191A>T (p.Glu25397Asp) c.71589A>T (p.Glu23863Asp) c.71586A>T (p.Glu23862Asp) c.68628A>T (p.Glu22876Asp) c.50244A>T (p.Glu16748Asp) c.71739A>T (p.Glu23913Asp) c.71736A>T (p.Glu23912Asp) c.71169A>T (p.Glu23723Asp) c.68511A>T (p.Glu22837Asp) c.68430A>T (p.Glu22810Asp) c.50193A>T (p.Glu16731Asp) c.40047A>T (p.Glu13349Asp) |