Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178544214G>A | CA223989 | TTN,TTN-AS1 | c.88311C>T (p.Pro29437=) c.69396C>T (p.Pro23132=) c.69195C>T (p.Pro23065=) c.68820C>T (p.Pro22940=) c.96015C>T (p.Pro32005=) c.91092C>T (p.Pro30364=) n.446+20578G>A n.2043+1853G>A c.95112C>T (p.Pro31704=) c.69006C>T (p.Pro23002=) c.68865C>T (p.Pro22955=) c.94908C>T (p.Pro31636=) c.90306C>T (p.Pro30102=) c.90303C>T (p.Pro30101=) c.87345C>T (p.Pro29115=) c.68961C>T (p.Pro22987=) c.90456C>T (p.Pro30152=) c.90453C>T (p.Pro30151=) c.89886C>T (p.Pro29962=) c.87228C>T (p.Pro29076=) c.87147C>T (p.Pro29049=) c.68910C>T (p.Pro22970=) c.58764C>T (p.Pro19588=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178544214G>C | CA430241640 | TTN,TTN-AS1 | c.88311C>G (p.Pro29437=) c.69396C>G (p.Pro23132=) c.69195C>G (p.Pro23065=) c.68820C>G (p.Pro22940=) c.96015C>G (p.Pro32005=) c.91092C>G (p.Pro30364=) n.446+20578G>C n.2043+1853G>C c.95112C>G (p.Pro31704=) c.69006C>G (p.Pro23002=) c.68865C>G (p.Pro22955=) c.94908C>G (p.Pro31636=) c.90306C>G (p.Pro30102=) c.90303C>G (p.Pro30101=) c.87345C>G (p.Pro29115=) c.68961C>G (p.Pro22987=) c.90456C>G (p.Pro30152=) c.90453C>G (p.Pro30151=) c.89886C>G (p.Pro29962=) c.87228C>G (p.Pro29076=) c.87147C>G (p.Pro29049=) c.68910C>G (p.Pro22970=) c.58764C>G (p.Pro19588=) | |
2 | g.178544214G= | CA1310521424 | TTN,TTN-AS1 | c.88311C= (p.Pro29437=) c.69396C= (p.Pro23132=) c.69195C= (p.Pro23065=) c.68820C= (p.Pro22940=) c.96015C= (p.Pro32005=) c.91092C= (p.Pro30364=) n.446+20578G= n.2043+1853G= c.95112C= (p.Pro31704=) c.69006C= (p.Pro23002=) c.68865C= (p.Pro22955=) c.94908C= (p.Pro31636=) c.90306C= (p.Pro30102=) c.90303C= (p.Pro30101=) c.87345C= (p.Pro29115=) c.68961C= (p.Pro22987=) c.90456C= (p.Pro30152=) c.90453C= (p.Pro30151=) c.89886C= (p.Pro29962=) c.87228C= (p.Pro29076=) c.87147C= (p.Pro29049=) c.68910C= (p.Pro22970=) c.58764C= (p.Pro19588=) | |
2 | g.178544214G>T | CA430241641 | TTN,TTN-AS1 | c.88311C>A (p.Pro29437=) c.69396C>A (p.Pro23132=) c.69195C>A (p.Pro23065=) c.68820C>A (p.Pro22940=) c.96015C>A (p.Pro32005=) c.91092C>A (p.Pro30364=) n.446+20578G>T n.2043+1853G>T c.95112C>A (p.Pro31704=) c.69006C>A (p.Pro23002=) c.68865C>A (p.Pro22955=) c.94908C>A (p.Pro31636=) c.90306C>A (p.Pro30102=) c.90303C>A (p.Pro30101=) c.87345C>A (p.Pro29115=) c.68961C>A (p.Pro22987=) c.90456C>A (p.Pro30152=) c.90453C>A (p.Pro30151=) c.89886C>A (p.Pro29962=) c.87228C>A (p.Pro29076=) c.87147C>A (p.Pro29049=) c.68910C>A (p.Pro22970=) c.58764C>A (p.Pro19588=) | |
2 | g.178544215G>A | CA349454914 | TTN,TTN-AS1 | c.88310C>T (p.Pro29437Leu) c.69395C>T (p.Pro23132Leu) c.69194C>T (p.Pro23065Leu) c.68819C>T (p.Pro22940Leu) c.96014C>T (p.Pro32005Leu) c.91091C>T (p.Pro30364Leu) n.446+20579G>A n.2043+1854G>A c.95111C>T (p.Pro31704Leu) c.69005C>T (p.Pro23002Leu) c.68864C>T (p.Pro22955Leu) c.94907C>T (p.Pro31636Leu) c.90305C>T (p.Pro30102Leu) c.90302C>T (p.Pro30101Leu) c.87344C>T (p.Pro29115Leu) c.68960C>T (p.Pro22987Leu) c.90455C>T (p.Pro30152Leu) c.90452C>T (p.Pro30151Leu) c.89885C>T (p.Pro29962Leu) c.87227C>T (p.Pro29076Leu) c.87146C>T (p.Pro29049Leu) c.68909C>T (p.Pro22970Leu) c.58763C>T (p.Pro19588Leu) | |
2 | g.178544215G>C | CA349454918 | TTN,TTN-AS1 | c.88310C>G (p.Pro29437Arg) c.69395C>G (p.Pro23132Arg) c.69194C>G (p.Pro23065Arg) c.68819C>G (p.Pro22940Arg) c.96014C>G (p.Pro32005Arg) c.91091C>G (p.Pro30364Arg) n.446+20579G>C n.2043+1854G>C c.95111C>G (p.Pro31704Arg) c.69005C>G (p.Pro23002Arg) c.68864C>G (p.Pro22955Arg) c.94907C>G (p.Pro31636Arg) c.90305C>G (p.Pro30102Arg) c.90302C>G (p.Pro30101Arg) c.87344C>G (p.Pro29115Arg) c.68960C>G (p.Pro22987Arg) c.90455C>G (p.Pro30152Arg) c.90452C>G (p.Pro30151Arg) c.89885C>G (p.Pro29962Arg) c.87227C>G (p.Pro29076Arg) c.87146C>G (p.Pro29049Arg) c.68909C>G (p.Pro22970Arg) c.58763C>G (p.Pro19588Arg) | |
2 | g.178544215G>T | CA349454923 | TTN,TTN-AS1 | c.88310C>A (p.Pro29437His) c.69395C>A (p.Pro23132His) c.69194C>A (p.Pro23065His) c.68819C>A (p.Pro22940His) c.96014C>A (p.Pro32005His) c.91091C>A (p.Pro30364His) n.446+20579G>T n.2043+1854G>T c.95111C>A (p.Pro31704His) c.69005C>A (p.Pro23002His) c.68864C>A (p.Pro22955His) c.94907C>A (p.Pro31636His) c.90305C>A (p.Pro30102His) c.90302C>A (p.Pro30101His) c.87344C>A (p.Pro29115His) c.68960C>A (p.Pro22987His) c.90455C>A (p.Pro30152His) c.90452C>A (p.Pro30151His) c.89885C>A (p.Pro29962His) c.87227C>A (p.Pro29076His) c.87146C>A (p.Pro29049His) c.68909C>A (p.Pro22970His) c.58763C>A (p.Pro19588His) | |
2 | g.178544216G>A | CA349454935 | TTN,TTN-AS1 | c.88309C>T (p.Pro29437Ser) c.69394C>T (p.Pro23132Ser) c.69193C>T (p.Pro23065Ser) c.68818C>T (p.Pro22940Ser) c.96013C>T (p.Pro32005Ser) c.91090C>T (p.Pro30364Ser) n.446+20580G>A n.2043+1855G>A c.95110C>T (p.Pro31704Ser) c.69004C>T (p.Pro23002Ser) c.68863C>T (p.Pro22955Ser) c.94906C>T (p.Pro31636Ser) c.90304C>T (p.Pro30102Ser) c.90301C>T (p.Pro30101Ser) c.87343C>T (p.Pro29115Ser) c.68959C>T (p.Pro22987Ser) c.90454C>T (p.Pro30152Ser) c.90451C>T (p.Pro30151Ser) c.89884C>T (p.Pro29962Ser) c.87226C>T (p.Pro29076Ser) c.87145C>T (p.Pro29049Ser) c.68908C>T (p.Pro22970Ser) c.58762C>T (p.Pro19588Ser) | gnomAD v4 |
2 | g.178544216G>C | CA349454928 | TTN,TTN-AS1 | c.88309C>G (p.Pro29437Ala) c.69394C>G (p.Pro23132Ala) c.69193C>G (p.Pro23065Ala) c.68818C>G (p.Pro22940Ala) c.96013C>G (p.Pro32005Ala) c.91090C>G (p.Pro30364Ala) n.446+20580G>C n.2043+1855G>C c.95110C>G (p.Pro31704Ala) c.69004C>G (p.Pro23002Ala) c.68863C>G (p.Pro22955Ala) c.94906C>G (p.Pro31636Ala) c.90304C>G (p.Pro30102Ala) c.90301C>G (p.Pro30101Ala) c.87343C>G (p.Pro29115Ala) c.68959C>G (p.Pro22987Ala) c.90454C>G (p.Pro30152Ala) c.90451C>G (p.Pro30151Ala) c.89884C>G (p.Pro29962Ala) c.87226C>G (p.Pro29076Ala) c.87145C>G (p.Pro29049Ala) c.68908C>G (p.Pro22970Ala) c.58762C>G (p.Pro19588Ala) | |
2 | g.178544216G>T | CA349454929 | TTN,TTN-AS1 | c.88309C>A (p.Pro29437Thr) c.69394C>A (p.Pro23132Thr) c.69193C>A (p.Pro23065Thr) c.68818C>A (p.Pro22940Thr) c.96013C>A (p.Pro32005Thr) c.91090C>A (p.Pro30364Thr) n.446+20580G>T n.2043+1855G>T c.95110C>A (p.Pro31704Thr) c.69004C>A (p.Pro23002Thr) c.68863C>A (p.Pro22955Thr) c.94906C>A (p.Pro31636Thr) c.90304C>A (p.Pro30102Thr) c.90301C>A (p.Pro30101Thr) c.87343C>A (p.Pro29115Thr) c.68959C>A (p.Pro22987Thr) c.90454C>A (p.Pro30152Thr) c.90451C>A (p.Pro30151Thr) c.89884C>A (p.Pro29962Thr) c.87226C>A (p.Pro29076Thr) c.87145C>A (p.Pro29049Thr) c.68908C>A (p.Pro22970Thr) c.58762C>A (p.Pro19588Thr) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178544217C>A | CA349454940 | TTN,TTN-AS1 | c.88308G>T (p.Glu29436Asp) c.69393G>T (p.Glu23131Asp) c.69192G>T (p.Glu23064Asp) c.68817G>T (p.Glu22939Asp) c.96012G>T (p.Glu32004Asp) c.91089G>T (p.Glu30363Asp) n.446+20581C>A n.2043+1856C>A c.95109G>T (p.Glu31703Asp) c.69003G>T (p.Glu23001Asp) c.68862G>T (p.Glu22954Asp) c.94905G>T (p.Glu31635Asp) c.90303G>T (p.Glu30101Asp) c.90300G>T (p.Glu30100Asp) c.87342G>T (p.Glu29114Asp) c.68958G>T (p.Glu22986Asp) c.90453G>T (p.Glu30151Asp) c.90450G>T (p.Glu30150Asp) c.89883G>T (p.Glu29961Asp) c.87225G>T (p.Glu29075Asp) c.87144G>T (p.Glu29048Asp) c.68907G>T (p.Glu22969Asp) c.58761G>T (p.Glu19587Asp) | |
2 | g.178544217C= | CA1310521426 | TTN,TTN-AS1 | c.88308G= (p.Glu29436=) c.69393G= (p.Glu23131=) c.69192G= (p.Glu23064=) c.68817G= (p.Glu22939=) c.96012G= (p.Glu32004=) c.91089G= (p.Glu30363=) n.446+20581C= n.2043+1856C= c.95109G= (p.Glu31703=) c.69003G= (p.Glu23001=) c.68862G= (p.Glu22954=) c.94905G= (p.Glu31635=) c.90303G= (p.Glu30101=) c.90300G= (p.Glu30100=) c.87342G= (p.Glu29114=) c.68958G= (p.Glu22986=) c.90453G= (p.Glu30151=) c.90450G= (p.Glu30150=) c.89883G= (p.Glu29961=) c.87225G= (p.Glu29075=) c.87144G= (p.Glu29048=) c.68907G= (p.Glu22969=) c.58761G= (p.Glu19587=) | |
2 | g.178544217C>G | CA349454945 | TTN,TTN-AS1 | c.88308G>C (p.Glu29436Asp) c.69393G>C (p.Glu23131Asp) c.69192G>C (p.Glu23064Asp) c.68817G>C (p.Glu22939Asp) c.96012G>C (p.Glu32004Asp) c.91089G>C (p.Glu30363Asp) n.446+20581C>G n.2043+1856C>G c.95109G>C (p.Glu31703Asp) c.69003G>C (p.Glu23001Asp) c.68862G>C (p.Glu22954Asp) c.94905G>C (p.Glu31635Asp) c.90303G>C (p.Glu30101Asp) c.90300G>C (p.Glu30100Asp) c.87342G>C (p.Glu29114Asp) c.68958G>C (p.Glu22986Asp) c.90453G>C (p.Glu30151Asp) c.90450G>C (p.Glu30150Asp) c.89883G>C (p.Glu29961Asp) c.87225G>C (p.Glu29075Asp) c.87144G>C (p.Glu29048Asp) c.68907G>C (p.Glu22969Asp) c.58761G>C (p.Glu19587Asp) | |
2 | g.178544217C>T | CA430241649 | TTN,TTN-AS1 | c.88308G>A (p.Glu29436=) c.69393G>A (p.Glu23131=) c.69192G>A (p.Glu23064=) c.68817G>A (p.Glu22939=) c.96012G>A (p.Glu32004=) c.91089G>A (p.Glu30363=) n.446+20581C>T n.2043+1856C>T c.95109G>A (p.Glu31703=) c.69003G>A (p.Glu23001=) c.68862G>A (p.Glu22954=) c.94905G>A (p.Glu31635=) c.90303G>A (p.Glu30101=) c.90300G>A (p.Glu30100=) c.87342G>A (p.Glu29114=) c.68958G>A (p.Glu22986=) c.90453G>A (p.Glu30151=) c.90450G>A (p.Glu30150=) c.89883G>A (p.Glu29961=) c.87225G>A (p.Glu29075=) c.87144G>A (p.Glu29048=) c.68907G>A (p.Glu22969=) c.58761G>A (p.Glu19587=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178544218T>A | CA349454949 | TTN,TTN-AS1 | c.88307A>T (p.Glu29436Val) c.69392A>T (p.Glu23131Val) c.69191A>T (p.Glu23064Val) c.68816A>T (p.Glu22939Val) c.96011A>T (p.Glu32004Val) c.91088A>T (p.Glu30363Val) n.446+20582T>A n.2043+1857T>A c.95108A>T (p.Glu31703Val) c.69002A>T (p.Glu23001Val) c.68861A>T (p.Glu22954Val) c.94904A>T (p.Glu31635Val) c.90302A>T (p.Glu30101Val) c.90299A>T (p.Glu30100Val) c.87341A>T (p.Glu29114Val) c.68957A>T (p.Glu22986Val) c.90452A>T (p.Glu30151Val) c.90449A>T (p.Glu30150Val) c.89882A>T (p.Glu29961Val) c.87224A>T (p.Glu29075Val) c.87143A>T (p.Glu29048Val) c.68906A>T (p.Glu22969Val) c.58760A>T (p.Glu19587Val) | |
2 | g.178544218T>C | CA349454952 | TTN,TTN-AS1 | c.88307A>G (p.Glu29436Gly) c.69392A>G (p.Glu23131Gly) c.69191A>G (p.Glu23064Gly) c.68816A>G (p.Glu22939Gly) c.96011A>G (p.Glu32004Gly) c.91088A>G (p.Glu30363Gly) n.446+20582T>C n.2043+1857T>C c.95108A>G (p.Glu31703Gly) c.69002A>G (p.Glu23001Gly) c.68861A>G (p.Glu22954Gly) c.94904A>G (p.Glu31635Gly) c.90302A>G (p.Glu30101Gly) c.90299A>G (p.Glu30100Gly) c.87341A>G (p.Glu29114Gly) c.68957A>G (p.Glu22986Gly) c.90452A>G (p.Glu30151Gly) c.90449A>G (p.Glu30150Gly) c.89882A>G (p.Glu29961Gly) c.87224A>G (p.Glu29075Gly) c.87143A>G (p.Glu29048Gly) c.68906A>G (p.Glu22969Gly) c.58760A>G (p.Glu19587Gly) | ClinVar dbSNP |
2 | g.178544218T>G | CA349454955 | TTN,TTN-AS1 | c.88307A>C (p.Glu29436Ala) c.69392A>C (p.Glu23131Ala) c.69191A>C (p.Glu23064Ala) c.68816A>C (p.Glu22939Ala) c.96011A>C (p.Glu32004Ala) c.91088A>C (p.Glu30363Ala) n.446+20582T>G n.2043+1857T>G c.95108A>C (p.Glu31703Ala) c.69002A>C (p.Glu23001Ala) c.68861A>C (p.Glu22954Ala) c.94904A>C (p.Glu31635Ala) c.90302A>C (p.Glu30101Ala) c.90299A>C (p.Glu30100Ala) c.87341A>C (p.Glu29114Ala) c.68957A>C (p.Glu22986Ala) c.90452A>C (p.Glu30151Ala) c.90449A>C (p.Glu30150Ala) c.89882A>C (p.Glu29961Ala) c.87224A>C (p.Glu29075Ala) c.87143A>C (p.Glu29048Ala) c.68906A>C (p.Glu22969Ala) c.58760A>C (p.Glu19587Ala) | |
2 | g.178544218T= | CA1310521429 | TTN,TTN-AS1 | c.88307A= (p.Glu29436=) c.69392A= (p.Glu23131=) c.69191A= (p.Glu23064=) c.68816A= (p.Glu22939=) c.96011A= (p.Glu32004=) c.91088A= (p.Glu30363=) n.446+20582T= n.2043+1857T= c.95108A= (p.Glu31703=) c.69002A= (p.Glu23001=) c.68861A= (p.Glu22954=) c.94904A= (p.Glu31635=) c.90302A= (p.Glu30101=) c.90299A= (p.Glu30100=) c.87341A= (p.Glu29114=) c.68957A= (p.Glu22986=) c.90452A= (p.Glu30151=) c.90449A= (p.Glu30150=) c.89882A= (p.Glu29961=) c.87224A= (p.Glu29075=) c.87143A= (p.Glu29048=) c.68906A= (p.Glu22969=) c.58760A= (p.Glu19587=) | |
2 | g.178544219C>A | CA349454990 | TTN,TTN-AS1 | c.88306G>T (p.Glu29436Ter) c.69391G>T (p.Glu23131Ter) c.69190G>T (p.Glu23064Ter) c.68815G>T (p.Glu22939Ter) c.96010G>T (p.Glu32004Ter) c.91087G>T (p.Glu30363Ter) n.446+20583C>A n.2043+1858C>A c.95107G>T (p.Glu31703Ter) c.69001G>T (p.Glu23001Ter) c.68860G>T (p.Glu22954Ter) c.94903G>T (p.Glu31635Ter) c.90301G>T (p.Glu30101Ter) c.90298G>T (p.Glu30100Ter) c.87340G>T (p.Glu29114Ter) c.68956G>T (p.Glu22986Ter) c.90451G>T (p.Glu30151Ter) c.90448G>T (p.Glu30150Ter) c.89881G>T (p.Glu29961Ter) c.87223G>T (p.Glu29075Ter) c.87142G>T (p.Glu29048Ter) c.68905G>T (p.Glu22969Ter) c.58759G>T (p.Glu19587Ter) | |
2 | g.178544219C>G | CA349454975 | TTN,TTN-AS1 | c.88306G>C (p.Glu29436Gln) c.69391G>C (p.Glu23131Gln) c.69190G>C (p.Glu23064Gln) c.68815G>C (p.Glu22939Gln) c.96010G>C (p.Glu32004Gln) c.91087G>C (p.Glu30363Gln) n.446+20583C>G n.2043+1858C>G c.95107G>C (p.Glu31703Gln) c.69001G>C (p.Glu23001Gln) c.68860G>C (p.Glu22954Gln) c.94903G>C (p.Glu31635Gln) c.90301G>C (p.Glu30101Gln) c.90298G>C (p.Glu30100Gln) c.87340G>C (p.Glu29114Gln) c.68956G>C (p.Glu22986Gln) c.90451G>C (p.Glu30151Gln) c.90448G>C (p.Glu30150Gln) c.89881G>C (p.Glu29961Gln) c.87223G>C (p.Glu29075Gln) c.87142G>C (p.Glu29048Gln) c.68905G>C (p.Glu22969Gln) c.58759G>C (p.Glu19587Gln) | |
2 | g.178544219C>T | CA349454979 | TTN,TTN-AS1 | c.88306G>A (p.Glu29436Lys) c.69391G>A (p.Glu23131Lys) c.69190G>A (p.Glu23064Lys) c.68815G>A (p.Glu22939Lys) c.96010G>A (p.Glu32004Lys) c.91087G>A (p.Glu30363Lys) n.446+20583C>T n.2043+1858C>T c.95107G>A (p.Glu31703Lys) c.69001G>A (p.Glu23001Lys) c.68860G>A (p.Glu22954Lys) c.94903G>A (p.Glu31635Lys) c.90301G>A (p.Glu30101Lys) c.90298G>A (p.Glu30100Lys) c.87340G>A (p.Glu29114Lys) c.68956G>A (p.Glu22986Lys) c.90451G>A (p.Glu30151Lys) c.90448G>A (p.Glu30150Lys) c.89881G>A (p.Glu29961Lys) c.87223G>A (p.Glu29075Lys) c.87142G>A (p.Glu29048Lys) c.68905G>A (p.Glu22969Lys) c.58759G>A (p.Glu19587Lys) | |
2 | g.178544220A= | CA1310521431 | TTN,TTN-AS1 | c.88305T= (p.Ile29435=) c.69390T= (p.Ile23130=) c.69189T= (p.Ile23063=) c.68814T= (p.Ile22938=) c.96009T= (p.Ile32003=) c.91086T= (p.Ile30362=) n.446+20584A= n.2043+1859A= c.95106T= (p.Ile31702=) c.69000T= (p.Ile23000=) c.68859T= (p.Ile22953=) c.94902T= (p.Ile31634=) c.90300T= (p.Ile30100=) c.90297T= (p.Ile30099=) c.87339T= (p.Ile29113=) c.68955T= (p.Ile22985=) c.90450T= (p.Ile30150=) c.90447T= (p.Ile30149=) c.89880T= (p.Ile29960=) c.87222T= (p.Ile29074=) c.87141T= (p.Ile29047=) c.68904T= (p.Ile22968=) c.58758T= (p.Ile19586=) | |
2 | g.178544220A>C | CA349454996 | TTN,TTN-AS1 | c.88305T>G (p.Ile29435Met) c.69390T>G (p.Ile23130Met) c.69189T>G (p.Ile23063Met) c.68814T>G (p.Ile22938Met) c.96009T>G (p.Ile32003Met) c.91086T>G (p.Ile30362Met) n.446+20584A>C n.2043+1859A>C c.95106T>G (p.Ile31702Met) c.69000T>G (p.Ile23000Met) c.68859T>G (p.Ile22953Met) c.94902T>G (p.Ile31634Met) c.90300T>G (p.Ile30100Met) c.90297T>G (p.Ile30099Met) c.87339T>G (p.Ile29113Met) c.68955T>G (p.Ile22985Met) c.90450T>G (p.Ile30150Met) c.90447T>G (p.Ile30149Met) c.89880T>G (p.Ile29960Met) c.87222T>G (p.Ile29074Met) c.87141T>G (p.Ile29047Met) c.68904T>G (p.Ile22968Met) c.58758T>G (p.Ile19586Met) | |
2 | g.178544220A>G | CA430241653 | TTN,TTN-AS1 | c.88305T>C (p.Ile29435=) c.69390T>C (p.Ile23130=) c.69189T>C (p.Ile23063=) c.68814T>C (p.Ile22938=) c.96009T>C (p.Ile32003=) c.91086T>C (p.Ile30362=) n.446+20584A>G n.2043+1859A>G c.95106T>C (p.Ile31702=) c.69000T>C (p.Ile23000=) c.68859T>C (p.Ile22953=) c.94902T>C (p.Ile31634=) c.90300T>C (p.Ile30100=) c.90297T>C (p.Ile30099=) c.87339T>C (p.Ile29113=) c.68955T>C (p.Ile22985=) c.90450T>C (p.Ile30150=) c.90447T>C (p.Ile30149=) c.89880T>C (p.Ile29960=) c.87222T>C (p.Ile29074=) c.87141T>C (p.Ile29047=) c.68904T>C (p.Ile22968=) c.58758T>C (p.Ile19586=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178544220A>T | CA1986839 | TTN,TTN-AS1 | c.88305T>A (p.Ile29435=) c.69390T>A (p.Ile23130=) c.69189T>A (p.Ile23063=) c.68814T>A (p.Ile22938=) c.96009T>A (p.Ile32003=) c.91086T>A (p.Ile30362=) n.446+20584A>T n.2043+1859A>T c.95106T>A (p.Ile31702=) c.69000T>A (p.Ile23000=) c.68859T>A (p.Ile22953=) c.94902T>A (p.Ile31634=) c.90300T>A (p.Ile30100=) c.90297T>A (p.Ile30099=) c.87339T>A (p.Ile29113=) c.68955T>A (p.Ile22985=) c.90450T>A (p.Ile30150=) c.90447T>A (p.Ile30149=) c.89880T>A (p.Ile29960=) c.87222T>A (p.Ile29074=) c.87141T>A (p.Ile29047=) c.68904T>A (p.Ile22968=) c.58758T>A (p.Ile19586=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178544221A= | CA1310521434 | TTN,TTN-AS1 | c.88304T= (p.Ile29435=) c.69389T= (p.Ile23130=) c.69188T= (p.Ile23063=) c.68813T= (p.Ile22938=) c.96008T= (p.Ile32003=) c.91085T= (p.Ile30362=) n.446+20585A= n.2043+1860A= c.95105T= (p.Ile31702=) c.68999T= (p.Ile23000=) c.68858T= (p.Ile22953=) c.94901T= (p.Ile31634=) c.90299T= (p.Ile30100=) c.90296T= (p.Ile30099=) c.87338T= (p.Ile29113=) c.68954T= (p.Ile22985=) c.90449T= (p.Ile30150=) c.90446T= (p.Ile30149=) c.89879T= (p.Ile29960=) c.87221T= (p.Ile29074=) c.87140T= (p.Ile29047=) c.68903T= (p.Ile22968=) c.58757T= (p.Ile19586=) | |
2 | g.178544221A>C | CA349455007 | TTN,TTN-AS1 | c.88304T>G (p.Ile29435Ser) c.69389T>G (p.Ile23130Ser) c.69188T>G (p.Ile23063Ser) c.68813T>G (p.Ile22938Ser) c.96008T>G (p.Ile32003Ser) c.91085T>G (p.Ile30362Ser) n.446+20585A>C n.2043+1860A>C c.95105T>G (p.Ile31702Ser) c.68999T>G (p.Ile23000Ser) c.68858T>G (p.Ile22953Ser) c.94901T>G (p.Ile31634Ser) c.90299T>G (p.Ile30100Ser) c.90296T>G (p.Ile30099Ser) c.87338T>G (p.Ile29113Ser) c.68954T>G (p.Ile22985Ser) c.90449T>G (p.Ile30150Ser) c.90446T>G (p.Ile30149Ser) c.89879T>G (p.Ile29960Ser) c.87221T>G (p.Ile29074Ser) c.87140T>G (p.Ile29047Ser) c.68903T>G (p.Ile22968Ser) c.58757T>G (p.Ile19586Ser) | |
2 | g.178544221A>G | CA1986840 | TTN,TTN-AS1 | c.88304T>C (p.Ile29435Thr) c.69389T>C (p.Ile23130Thr) c.69188T>C (p.Ile23063Thr) c.68813T>C (p.Ile22938Thr) c.96008T>C (p.Ile32003Thr) c.91085T>C (p.Ile30362Thr) n.446+20585A>G n.2043+1860A>G c.95105T>C (p.Ile31702Thr) c.68999T>C (p.Ile23000Thr) c.68858T>C (p.Ile22953Thr) c.94901T>C (p.Ile31634Thr) c.90299T>C (p.Ile30100Thr) c.90296T>C (p.Ile30099Thr) c.87338T>C (p.Ile29113Thr) c.68954T>C (p.Ile22985Thr) c.90449T>C (p.Ile30150Thr) c.90446T>C (p.Ile30149Thr) c.89879T>C (p.Ile29960Thr) c.87221T>C (p.Ile29074Thr) c.87140T>C (p.Ile29047Thr) c.68903T>C (p.Ile22968Thr) c.58757T>C (p.Ile19586Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178544221A>T | CA60970507 | TTN,TTN-AS1 | c.88304T>A (p.Ile29435Asn) c.69389T>A (p.Ile23130Asn) c.69188T>A (p.Ile23063Asn) c.68813T>A (p.Ile22938Asn) c.96008T>A (p.Ile32003Asn) c.91085T>A (p.Ile30362Asn) n.446+20585A>T n.2043+1860A>T c.95105T>A (p.Ile31702Asn) c.68999T>A (p.Ile23000Asn) c.68858T>A (p.Ile22953Asn) c.94901T>A (p.Ile31634Asn) c.90299T>A (p.Ile30100Asn) c.90296T>A (p.Ile30099Asn) c.87338T>A (p.Ile29113Asn) c.68954T>A (p.Ile22985Asn) c.90449T>A (p.Ile30150Asn) c.90446T>A (p.Ile30149Asn) c.89879T>A (p.Ile29960Asn) c.87221T>A (p.Ile29074Asn) c.87140T>A (p.Ile29047Asn) c.68903T>A (p.Ile22968Asn) c.58757T>A (p.Ile19586Asn) | dbSNP gnomAD v4 |
2 | g.178544222T>A | CA349455011 | TTN,TTN-AS1 | c.88303A>T (p.Ile29435Phe) c.69388A>T (p.Ile23130Phe) c.69187A>T (p.Ile23063Phe) c.68812A>T (p.Ile22938Phe) c.96007A>T (p.Ile32003Phe) c.91084A>T (p.Ile30362Phe) n.446+20586T>A n.2043+1861T>A c.95104A>T (p.Ile31702Phe) c.68998A>T (p.Ile23000Phe) c.68857A>T (p.Ile22953Phe) c.94900A>T (p.Ile31634Phe) c.90298A>T (p.Ile30100Phe) c.90295A>T (p.Ile30099Phe) c.87337A>T (p.Ile29113Phe) c.68953A>T (p.Ile22985Phe) c.90448A>T (p.Ile30150Phe) c.90445A>T (p.Ile30149Phe) c.89878A>T (p.Ile29960Phe) c.87220A>T (p.Ile29074Phe) c.87139A>T (p.Ile29047Phe) c.68902A>T (p.Ile22968Phe) c.58756A>T (p.Ile19586Phe) | |
2 | g.178544222T>C | CA349455015 | TTN,TTN-AS1 | c.88303A>G (p.Ile29435Val) c.69388A>G (p.Ile23130Val) c.69187A>G (p.Ile23063Val) c.68812A>G (p.Ile22938Val) c.96007A>G (p.Ile32003Val) c.91084A>G (p.Ile30362Val) n.446+20586T>C n.2043+1861T>C c.95104A>G (p.Ile31702Val) c.68998A>G (p.Ile23000Val) c.68857A>G (p.Ile22953Val) c.94900A>G (p.Ile31634Val) c.90298A>G (p.Ile30100Val) c.90295A>G (p.Ile30099Val) c.87337A>G (p.Ile29113Val) c.68953A>G (p.Ile22985Val) c.90448A>G (p.Ile30150Val) c.90445A>G (p.Ile30149Val) c.89878A>G (p.Ile29960Val) c.87220A>G (p.Ile29074Val) c.87139A>G (p.Ile29047Val) c.68902A>G (p.Ile22968Val) c.58756A>G (p.Ile19586Val) | |
2 | g.178544222T>G | CA349455022 | TTN,TTN-AS1 | c.88303A>C (p.Ile29435Leu) c.69388A>C (p.Ile23130Leu) c.69187A>C (p.Ile23063Leu) c.68812A>C (p.Ile22938Leu) c.96007A>C (p.Ile32003Leu) c.91084A>C (p.Ile30362Leu) n.446+20586T>G n.2043+1861T>G c.95104A>C (p.Ile31702Leu) c.68998A>C (p.Ile23000Leu) c.68857A>C (p.Ile22953Leu) c.94900A>C (p.Ile31634Leu) c.90298A>C (p.Ile30100Leu) c.90295A>C (p.Ile30099Leu) c.87337A>C (p.Ile29113Leu) c.68953A>C (p.Ile22985Leu) c.90448A>C (p.Ile30150Leu) c.90445A>C (p.Ile30149Leu) c.89878A>C (p.Ile29960Leu) c.87220A>C (p.Ile29074Leu) c.87139A>C (p.Ile29047Leu) c.68902A>C (p.Ile22968Leu) c.58756A>C (p.Ile19586Leu) | |
2 | g.178544223T>A | CA349455035 | TTN,TTN-AS1 | c.88302A>T (p.Glu29434Asp) c.69387A>T (p.Glu23129Asp) c.69186A>T (p.Glu23062Asp) c.68811A>T (p.Glu22937Asp) c.96006A>T (p.Glu32002Asp) c.91083A>T (p.Glu30361Asp) n.446+20587T>A n.2043+1862T>A c.95103A>T (p.Glu31701Asp) c.68997A>T (p.Glu22999Asp) c.68856A>T (p.Glu22952Asp) c.94899A>T (p.Glu31633Asp) c.90297A>T (p.Glu30099Asp) c.90294A>T (p.Glu30098Asp) c.87336A>T (p.Glu29112Asp) c.68952A>T (p.Glu22984Asp) c.90447A>T (p.Glu30149Asp) c.90444A>T (p.Glu30148Asp) c.89877A>T (p.Glu29959Asp) c.87219A>T (p.Glu29073Asp) c.87138A>T (p.Glu29046Asp) c.68901A>T (p.Glu22967Asp) c.58755A>T (p.Glu19585Asp) | |
2 | g.178544223T>C | CA430241657 | TTN,TTN-AS1 | c.88302A>G (p.Glu29434=) c.69387A>G (p.Glu23129=) c.69186A>G (p.Glu23062=) c.68811A>G (p.Glu22937=) c.96006A>G (p.Glu32002=) c.91083A>G (p.Glu30361=) n.446+20587T>C n.2043+1862T>C c.95103A>G (p.Glu31701=) c.68997A>G (p.Glu22999=) c.68856A>G (p.Glu22952=) c.94899A>G (p.Glu31633=) c.90297A>G (p.Glu30099=) c.90294A>G (p.Glu30098=) c.87336A>G (p.Glu29112=) c.68952A>G (p.Glu22984=) c.90447A>G (p.Glu30149=) c.90444A>G (p.Glu30148=) c.89877A>G (p.Glu29959=) c.87219A>G (p.Glu29073=) c.87138A>G (p.Glu29046=) c.68901A>G (p.Glu22967=) c.58755A>G (p.Glu19585=) | |
2 | g.178544223T>G | CA349455038 | TTN,TTN-AS1 | c.88302A>C (p.Glu29434Asp) c.69387A>C (p.Glu23129Asp) c.69186A>C (p.Glu23062Asp) c.68811A>C (p.Glu22937Asp) c.96006A>C (p.Glu32002Asp) c.91083A>C (p.Glu30361Asp) n.446+20587T>G n.2043+1862T>G c.95103A>C (p.Glu31701Asp) c.68997A>C (p.Glu22999Asp) c.68856A>C (p.Glu22952Asp) c.94899A>C (p.Glu31633Asp) c.90297A>C (p.Glu30099Asp) c.90294A>C (p.Glu30098Asp) c.87336A>C (p.Glu29112Asp) c.68952A>C (p.Glu22984Asp) c.90447A>C (p.Glu30149Asp) c.90444A>C (p.Glu30148Asp) c.89877A>C (p.Glu29959Asp) c.87219A>C (p.Glu29073Asp) c.87138A>C (p.Glu29046Asp) c.68901A>C (p.Glu22967Asp) c.58755A>C (p.Glu19585Asp) | gnomAD v4 |
2 | g.178544224T>A | CA349455047 | TTN,TTN-AS1 | c.88301A>T (p.Glu29434Val) c.69386A>T (p.Glu23129Val) c.69185A>T (p.Glu23062Val) c.68810A>T (p.Glu22937Val) c.96005A>T (p.Glu32002Val) c.91082A>T (p.Glu30361Val) n.446+20588T>A n.2043+1863T>A c.95102A>T (p.Glu31701Val) c.68996A>T (p.Glu22999Val) c.68855A>T (p.Glu22952Val) c.94898A>T (p.Glu31633Val) c.90296A>T (p.Glu30099Val) c.90293A>T (p.Glu30098Val) c.87335A>T (p.Glu29112Val) c.68951A>T (p.Glu22984Val) c.90446A>T (p.Glu30149Val) c.90443A>T (p.Glu30148Val) c.89876A>T (p.Glu29959Val) c.87218A>T (p.Glu29073Val) c.87137A>T (p.Glu29046Val) c.68900A>T (p.Glu22967Val) c.58754A>T (p.Glu19585Val) | |
2 | g.178544224T>C | CA349455054 | TTN,TTN-AS1 | c.88301A>G (p.Glu29434Gly) c.69386A>G (p.Glu23129Gly) c.69185A>G (p.Glu23062Gly) c.68810A>G (p.Glu22937Gly) c.96005A>G (p.Glu32002Gly) c.91082A>G (p.Glu30361Gly) n.446+20588T>C n.2043+1863T>C c.95102A>G (p.Glu31701Gly) c.68996A>G (p.Glu22999Gly) c.68855A>G (p.Glu22952Gly) c.94898A>G (p.Glu31633Gly) c.90296A>G (p.Glu30099Gly) c.90293A>G (p.Glu30098Gly) c.87335A>G (p.Glu29112Gly) c.68951A>G (p.Glu22984Gly) c.90446A>G (p.Glu30149Gly) c.90443A>G (p.Glu30148Gly) c.89876A>G (p.Glu29959Gly) c.87218A>G (p.Glu29073Gly) c.87137A>G (p.Glu29046Gly) c.68900A>G (p.Glu22967Gly) c.58754A>G (p.Glu19585Gly) | |
2 | g.178544224T>G | CA349455056 | TTN,TTN-AS1 | c.88301A>C (p.Glu29434Ala) c.69386A>C (p.Glu23129Ala) c.69185A>C (p.Glu23062Ala) c.68810A>C (p.Glu22937Ala) c.96005A>C (p.Glu32002Ala) c.91082A>C (p.Glu30361Ala) n.446+20588T>G n.2043+1863T>G c.95102A>C (p.Glu31701Ala) c.68996A>C (p.Glu22999Ala) c.68855A>C (p.Glu22952Ala) c.94898A>C (p.Glu31633Ala) c.90296A>C (p.Glu30099Ala) c.90293A>C (p.Glu30098Ala) c.87335A>C (p.Glu29112Ala) c.68951A>C (p.Glu22984Ala) c.90446A>C (p.Glu30149Ala) c.90443A>C (p.Glu30148Ala) c.89876A>C (p.Glu29959Ala) c.87218A>C (p.Glu29073Ala) c.87137A>C (p.Glu29046Ala) c.68900A>C (p.Glu22967Ala) c.58754A>C (p.Glu19585Ala) | |
2 | g.178544225C>A | CA349455060 | TTN,TTN-AS1 | c.88300G>T (p.Glu29434Ter) c.69385G>T (p.Glu23129Ter) c.69184G>T (p.Glu23062Ter) c.68809G>T (p.Glu22937Ter) c.96004G>T (p.Glu32002Ter) c.91081G>T (p.Glu30361Ter) n.446+20589C>A n.2043+1864C>A c.95101G>T (p.Glu31701Ter) c.68995G>T (p.Glu22999Ter) c.68854G>T (p.Glu22952Ter) c.94897G>T (p.Glu31633Ter) c.90295G>T (p.Glu30099Ter) c.90292G>T (p.Glu30098Ter) c.87334G>T (p.Glu29112Ter) c.68950G>T (p.Glu22984Ter) c.90445G>T (p.Glu30149Ter) c.90442G>T (p.Glu30148Ter) c.89875G>T (p.Glu29959Ter) c.87217G>T (p.Glu29073Ter) c.87136G>T (p.Glu29046Ter) c.68899G>T (p.Glu22967Ter) c.58753G>T (p.Glu19585Ter) | |
2 | g.178544225C>G | CA349455071 | TTN,TTN-AS1 | c.88300G>C (p.Glu29434Gln) c.69385G>C (p.Glu23129Gln) c.69184G>C (p.Glu23062Gln) c.68809G>C (p.Glu22937Gln) c.96004G>C (p.Glu32002Gln) c.91081G>C (p.Glu30361Gln) n.446+20589C>G n.2043+1864C>G c.95101G>C (p.Glu31701Gln) c.68995G>C (p.Glu22999Gln) c.68854G>C (p.Glu22952Gln) c.94897G>C (p.Glu31633Gln) c.90295G>C (p.Glu30099Gln) c.90292G>C (p.Glu30098Gln) c.87334G>C (p.Glu29112Gln) c.68950G>C (p.Glu22984Gln) c.90445G>C (p.Glu30149Gln) c.90442G>C (p.Glu30148Gln) c.89875G>C (p.Glu29959Gln) c.87217G>C (p.Glu29073Gln) c.87136G>C (p.Glu29046Gln) c.68899G>C (p.Glu22967Gln) c.58753G>C (p.Glu19585Gln) | |
2 | g.178544225C>T | CA349455066 | TTN,TTN-AS1 | c.88300G>A (p.Glu29434Lys) c.69385G>A (p.Glu23129Lys) c.69184G>A (p.Glu23062Lys) c.68809G>A (p.Glu22937Lys) c.96004G>A (p.Glu32002Lys) c.91081G>A (p.Glu30361Lys) n.446+20589C>T n.2043+1864C>T c.95101G>A (p.Glu31701Lys) c.68995G>A (p.Glu22999Lys) c.68854G>A (p.Glu22952Lys) c.94897G>A (p.Glu31633Lys) c.90295G>A (p.Glu30099Lys) c.90292G>A (p.Glu30098Lys) c.87334G>A (p.Glu29112Lys) c.68950G>A (p.Glu22984Lys) c.90445G>A (p.Glu30149Lys) c.90442G>A (p.Glu30148Lys) c.89875G>A (p.Glu29959Lys) c.87217G>A (p.Glu29073Lys) c.87136G>A (p.Glu29046Lys) c.68899G>A (p.Glu22967Lys) c.58753G>A (p.Glu19585Lys) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178544226A>C | CA430241663 | TTN,TTN-AS1 | c.88299T>G (p.Ala29433=) c.69384T>G (p.Ala23128=) c.69183T>G (p.Ala23061=) c.68808T>G (p.Ala22936=) c.96003T>G (p.Ala32001=) c.91080T>G (p.Ala30360=) n.446+20590A>C n.2043+1865A>C c.95100T>G (p.Ala31700=) c.68994T>G (p.Ala22998=) c.68853T>G (p.Ala22951=) c.94896T>G (p.Ala31632=) c.90294T>G (p.Ala30098=) c.90291T>G (p.Ala30097=) c.87333T>G (p.Ala29111=) c.68949T>G (p.Ala22983=) c.90444T>G (p.Ala30148=) c.90441T>G (p.Ala30147=) c.89874T>G (p.Ala29958=) c.87216T>G (p.Ala29072=) c.87135T>G (p.Ala29045=) c.68898T>G (p.Ala22966=) c.58752T>G (p.Ala19584=) | |
2 | g.178544226A>G | CA430241661 | TTN,TTN-AS1 | c.88299T>C (p.Ala29433=) c.69384T>C (p.Ala23128=) c.69183T>C (p.Ala23061=) c.68808T>C (p.Ala22936=) c.96003T>C (p.Ala32001=) c.91080T>C (p.Ala30360=) n.446+20590A>G n.2043+1865A>G c.95100T>C (p.Ala31700=) c.68994T>C (p.Ala22998=) c.68853T>C (p.Ala22951=) c.94896T>C (p.Ala31632=) c.90294T>C (p.Ala30098=) c.90291T>C (p.Ala30097=) c.87333T>C (p.Ala29111=) c.68949T>C (p.Ala22983=) c.90444T>C (p.Ala30148=) c.90441T>C (p.Ala30147=) c.89874T>C (p.Ala29958=) c.87216T>C (p.Ala29072=) c.87135T>C (p.Ala29045=) c.68898T>C (p.Ala22966=) c.58752T>C (p.Ala19584=) | |
2 | g.178544226A>T | CA430241660 | TTN,TTN-AS1 | c.88299T>A (p.Ala29433=) c.69384T>A (p.Ala23128=) c.69183T>A (p.Ala23061=) c.68808T>A (p.Ala22936=) c.96003T>A (p.Ala32001=) c.91080T>A (p.Ala30360=) n.446+20590A>T n.2043+1865A>T c.95100T>A (p.Ala31700=) c.68994T>A (p.Ala22998=) c.68853T>A (p.Ala22951=) c.94896T>A (p.Ala31632=) c.90294T>A (p.Ala30098=) c.90291T>A (p.Ala30097=) c.87333T>A (p.Ala29111=) c.68949T>A (p.Ala22983=) c.90444T>A (p.Ala30148=) c.90441T>A (p.Ala30147=) c.89874T>A (p.Ala29958=) c.87216T>A (p.Ala29072=) c.87135T>A (p.Ala29045=) c.68898T>A (p.Ala22966=) c.58752T>A (p.Ala19584=) | |
2 | g.178544227G>A | CA349455079 | TTN,TTN-AS1 | c.88298C>T (p.Ala29433Val) c.69383C>T (p.Ala23128Val) c.69182C>T (p.Ala23061Val) c.68807C>T (p.Ala22936Val) c.96002C>T (p.Ala32001Val) c.91079C>T (p.Ala30360Val) n.446+20591G>A n.2043+1866G>A c.95099C>T (p.Ala31700Val) c.68993C>T (p.Ala22998Val) c.68852C>T (p.Ala22951Val) c.94895C>T (p.Ala31632Val) c.90293C>T (p.Ala30098Val) c.90290C>T (p.Ala30097Val) c.87332C>T (p.Ala29111Val) c.68948C>T (p.Ala22983Val) c.90443C>T (p.Ala30148Val) c.90440C>T (p.Ala30147Val) c.89873C>T (p.Ala29958Val) c.87215C>T (p.Ala29072Val) c.87134C>T (p.Ala29045Val) c.68897C>T (p.Ala22966Val) c.58751C>T (p.Ala19584Val) | |
2 | g.178544227G>C | CA349455081 | TTN,TTN-AS1 | c.88298C>G (p.Ala29433Gly) c.69383C>G (p.Ala23128Gly) c.69182C>G (p.Ala23061Gly) c.68807C>G (p.Ala22936Gly) c.96002C>G (p.Ala32001Gly) c.91079C>G (p.Ala30360Gly) n.446+20591G>C n.2043+1866G>C c.95099C>G (p.Ala31700Gly) c.68993C>G (p.Ala22998Gly) c.68852C>G (p.Ala22951Gly) c.94895C>G (p.Ala31632Gly) c.90293C>G (p.Ala30098Gly) c.90290C>G (p.Ala30097Gly) c.87332C>G (p.Ala29111Gly) c.68948C>G (p.Ala22983Gly) c.90443C>G (p.Ala30148Gly) c.90440C>G (p.Ala30147Gly) c.89873C>G (p.Ala29958Gly) c.87215C>G (p.Ala29072Gly) c.87134C>G (p.Ala29045Gly) c.68897C>G (p.Ala22966Gly) c.58751C>G (p.Ala19584Gly) | dbSNP |
2 | g.178544227G= | CA1310521436 | TTN,TTN-AS1 | c.88298C= (p.Ala29433=) c.69383C= (p.Ala23128=) c.69182C= (p.Ala23061=) c.68807C= (p.Ala22936=) c.96002C= (p.Ala32001=) c.91079C= (p.Ala30360=) n.446+20591G= n.2043+1866G= c.95099C= (p.Ala31700=) c.68993C= (p.Ala22998=) c.68852C= (p.Ala22951=) c.94895C= (p.Ala31632=) c.90293C= (p.Ala30098=) c.90290C= (p.Ala30097=) c.87332C= (p.Ala29111=) c.68948C= (p.Ala22983=) c.90443C= (p.Ala30148=) c.90440C= (p.Ala30147=) c.89873C= (p.Ala29958=) c.87215C= (p.Ala29072=) c.87134C= (p.Ala29045=) c.68897C= (p.Ala22966=) c.58751C= (p.Ala19584=) | |
2 | g.178544227G>T | CA349455083 | TTN,TTN-AS1 | c.88298C>A (p.Ala29433Asp) c.69383C>A (p.Ala23128Asp) c.69182C>A (p.Ala23061Asp) c.68807C>A (p.Ala22936Asp) c.96002C>A (p.Ala32001Asp) c.91079C>A (p.Ala30360Asp) n.446+20591G>T n.2043+1866G>T c.95099C>A (p.Ala31700Asp) c.68993C>A (p.Ala22998Asp) c.68852C>A (p.Ala22951Asp) c.94895C>A (p.Ala31632Asp) c.90293C>A (p.Ala30098Asp) c.90290C>A (p.Ala30097Asp) c.87332C>A (p.Ala29111Asp) c.68948C>A (p.Ala22983Asp) c.90443C>A (p.Ala30148Asp) c.90440C>A (p.Ala30147Asp) c.89873C>A (p.Ala29958Asp) c.87215C>A (p.Ala29072Asp) c.87134C>A (p.Ala29045Asp) c.68897C>A (p.Ala22966Asp) c.58751C>A (p.Ala19584Asp) | |
2 | g.178544228C>A | CA349455087 | TTN,TTN-AS1 | c.88297G>T (p.Ala29433Ser) c.69382G>T (p.Ala23128Ser) c.69181G>T (p.Ala23061Ser) c.68806G>T (p.Ala22936Ser) c.96001G>T (p.Ala32001Ser) c.91078G>T (p.Ala30360Ser) n.446+20592C>A n.2043+1867C>A c.95098G>T (p.Ala31700Ser) c.68992G>T (p.Ala22998Ser) c.68851G>T (p.Ala22951Ser) c.94894G>T (p.Ala31632Ser) c.90292G>T (p.Ala30098Ser) c.90289G>T (p.Ala30097Ser) c.87331G>T (p.Ala29111Ser) c.68947G>T (p.Ala22983Ser) c.90442G>T (p.Ala30148Ser) c.90439G>T (p.Ala30147Ser) c.89872G>T (p.Ala29958Ser) c.87214G>T (p.Ala29072Ser) c.87133G>T (p.Ala29045Ser) c.68896G>T (p.Ala22966Ser) c.58750G>T (p.Ala19584Ser) | |
2 | g.178544228C>G | CA349455111 | TTN,TTN-AS1 | c.88297G>C (p.Ala29433Pro) c.69382G>C (p.Ala23128Pro) c.69181G>C (p.Ala23061Pro) c.68806G>C (p.Ala22936Pro) c.96001G>C (p.Ala32001Pro) c.91078G>C (p.Ala30360Pro) n.446+20592C>G n.2043+1867C>G c.95098G>C (p.Ala31700Pro) c.68992G>C (p.Ala22998Pro) c.68851G>C (p.Ala22951Pro) c.94894G>C (p.Ala31632Pro) c.90292G>C (p.Ala30098Pro) c.90289G>C (p.Ala30097Pro) c.87331G>C (p.Ala29111Pro) c.68947G>C (p.Ala22983Pro) c.90442G>C (p.Ala30148Pro) c.90439G>C (p.Ala30147Pro) c.89872G>C (p.Ala29958Pro) c.87214G>C (p.Ala29072Pro) c.87133G>C (p.Ala29045Pro) c.68896G>C (p.Ala22966Pro) c.58750G>C (p.Ala19584Pro) |