| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178614542A= | CA1310549411 | TTN,TTN-AS1 | c.41268T= (p.Ser13756=) c.22353T= (p.Ser7451=) c.22152T= (p.Ser7384=) c.21777T= (p.Ser7259=) c.48972T= (p.Ser16324=) c.44049T= (p.Ser14683=) n.1290A= c.48069T= (p.Ser16023=) c.21963T= (p.Ser7321=) c.21822T= (p.Ser7274=) c.47865T= (p.Ser15955=) c.43263T= (p.Ser14421=) c.43260T= (p.Ser14420=) c.40302T= (p.Ser13434=) c.21918T= (p.Ser7306=) c.43413T= (p.Ser14471=) c.43410T= (p.Ser14470=) c.42843T= (p.Ser14281=) c.40185T= (p.Ser13395=) c.40104T= (p.Ser13368=) c.21867T= (p.Ser7289=) c.11721T= (p.Ser3907=) | |
| 2 | g.178614542A>C | CA349607216 | TTN,TTN-AS1 | c.41268T>G (p.Ser13756Arg) c.22353T>G (p.Ser7451Arg) c.22152T>G (p.Ser7384Arg) c.21777T>G (p.Ser7259Arg) c.48972T>G (p.Ser16324Arg) c.44049T>G (p.Ser14683Arg) n.1290A>C c.48069T>G (p.Ser16023Arg) c.21963T>G (p.Ser7321Arg) c.21822T>G (p.Ser7274Arg) c.47865T>G (p.Ser15955Arg) c.43263T>G (p.Ser14421Arg) c.43260T>G (p.Ser14420Arg) c.40302T>G (p.Ser13434Arg) c.21918T>G (p.Ser7306Arg) c.43413T>G (p.Ser14471Arg) c.43410T>G (p.Ser14470Arg) c.42843T>G (p.Ser14281Arg) c.40185T>G (p.Ser13395Arg) c.40104T>G (p.Ser13368Arg) c.21867T>G (p.Ser7289Arg) c.11721T>G (p.Ser3907Arg) | |
| 2 | g.178614542A>G | CA60987638 | TTN,TTN-AS1 | c.41268T>C (p.Ser13756=) c.22353T>C (p.Ser7451=) c.22152T>C (p.Ser7384=) c.21777T>C (p.Ser7259=) c.48972T>C (p.Ser16324=) c.44049T>C (p.Ser14683=) n.1290A>G c.48069T>C (p.Ser16023=) c.21963T>C (p.Ser7321=) c.21822T>C (p.Ser7274=) c.47865T>C (p.Ser15955=) c.43263T>C (p.Ser14421=) c.43260T>C (p.Ser14420=) c.40302T>C (p.Ser13434=) c.21918T>C (p.Ser7306=) c.43413T>C (p.Ser14471=) c.43410T>C (p.Ser14470=) c.42843T>C (p.Ser14281=) c.40185T>C (p.Ser13395=) c.40104T>C (p.Ser13368=) c.21867T>C (p.Ser7289=) c.11721T>C (p.Ser3907=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178614542A>T | CA349607217 | TTN,TTN-AS1 | c.41268T>A (p.Ser13756Arg) c.22353T>A (p.Ser7451Arg) c.22152T>A (p.Ser7384Arg) c.21777T>A (p.Ser7259Arg) c.48972T>A (p.Ser16324Arg) c.44049T>A (p.Ser14683Arg) n.1290A>T c.48069T>A (p.Ser16023Arg) c.21963T>A (p.Ser7321Arg) c.21822T>A (p.Ser7274Arg) c.47865T>A (p.Ser15955Arg) c.43263T>A (p.Ser14421Arg) c.43260T>A (p.Ser14420Arg) c.40302T>A (p.Ser13434Arg) c.21918T>A (p.Ser7306Arg) c.43413T>A (p.Ser14471Arg) c.43410T>A (p.Ser14470Arg) c.42843T>A (p.Ser14281Arg) c.40185T>A (p.Ser13395Arg) c.40104T>A (p.Ser13368Arg) c.21867T>A (p.Ser7289Arg) c.11721T>A (p.Ser3907Arg) | |
| 2 | g.178614543C>A | CA60987642 | TTN,TTN-AS1 | c.41267G>T (p.Ser13756Ile) c.22352G>T (p.Ser7451Ile) c.22151G>T (p.Ser7384Ile) c.21776G>T (p.Ser7259Ile) c.48971G>T (p.Ser16324Ile) c.44048G>T (p.Ser14683Ile) n.1291C>A c.48068G>T (p.Ser16023Ile) c.21962G>T (p.Ser7321Ile) c.21821G>T (p.Ser7274Ile) c.47864G>T (p.Ser15955Ile) c.43262G>T (p.Ser14421Ile) c.43259G>T (p.Ser14420Ile) c.40301G>T (p.Ser13434Ile) c.21917G>T (p.Ser7306Ile) c.43412G>T (p.Ser14471Ile) c.43409G>T (p.Ser14470Ile) c.42842G>T (p.Ser14281Ile) c.40184G>T (p.Ser13395Ile) c.40103G>T (p.Ser13368Ile) c.21866G>T (p.Ser7289Ile) c.11720G>T (p.Ser3907Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178614543C= | CA1310549412 | TTN,TTN-AS1 | c.41267G= (p.Ser13756=) c.22352G= (p.Ser7451=) c.22151G= (p.Ser7384=) c.21776G= (p.Ser7259=) c.48971G= (p.Ser16324=) c.44048G= (p.Ser14683=) n.1291C= c.48068G= (p.Ser16023=) c.21962G= (p.Ser7321=) c.21821G= (p.Ser7274=) c.47864G= (p.Ser15955=) c.43262G= (p.Ser14421=) c.43259G= (p.Ser14420=) c.40301G= (p.Ser13434=) c.21917G= (p.Ser7306=) c.43412G= (p.Ser14471=) c.43409G= (p.Ser14470=) c.42842G= (p.Ser14281=) c.40184G= (p.Ser13395=) c.40103G= (p.Ser13368=) c.21866G= (p.Ser7289=) c.11720G= (p.Ser3907=) | |
| 2 | g.178614543C>G | CA349607220 | TTN,TTN-AS1 | c.41267G>C (p.Ser13756Thr) c.22352G>C (p.Ser7451Thr) c.22151G>C (p.Ser7384Thr) c.21776G>C (p.Ser7259Thr) c.48971G>C (p.Ser16324Thr) c.44048G>C (p.Ser14683Thr) n.1291C>G c.48068G>C (p.Ser16023Thr) c.21962G>C (p.Ser7321Thr) c.21821G>C (p.Ser7274Thr) c.47864G>C (p.Ser15955Thr) c.43262G>C (p.Ser14421Thr) c.43259G>C (p.Ser14420Thr) c.40301G>C (p.Ser13434Thr) c.21917G>C (p.Ser7306Thr) c.43412G>C (p.Ser14471Thr) c.43409G>C (p.Ser14470Thr) c.42842G>C (p.Ser14281Thr) c.40184G>C (p.Ser13395Thr) c.40103G>C (p.Ser13368Thr) c.21866G>C (p.Ser7289Thr) c.11720G>C (p.Ser3907Thr) | |
| 2 | g.178614543C>T | CA349607221 | TTN,TTN-AS1 | c.41267G>A (p.Ser13756Asn) c.22352G>A (p.Ser7451Asn) c.22151G>A (p.Ser7384Asn) c.21776G>A (p.Ser7259Asn) c.48971G>A (p.Ser16324Asn) c.44048G>A (p.Ser14683Asn) n.1291C>T c.48068G>A (p.Ser16023Asn) c.21962G>A (p.Ser7321Asn) c.21821G>A (p.Ser7274Asn) c.47864G>A (p.Ser15955Asn) c.43262G>A (p.Ser14421Asn) c.43259G>A (p.Ser14420Asn) c.40301G>A (p.Ser13434Asn) c.21917G>A (p.Ser7306Asn) c.43412G>A (p.Ser14471Asn) c.43409G>A (p.Ser14470Asn) c.42842G>A (p.Ser14281Asn) c.40184G>A (p.Ser13395Asn) c.40103G>A (p.Ser13368Asn) c.21866G>A (p.Ser7289Asn) c.11720G>A (p.Ser3907Asn) | |
| 2 | g.178614544T>A | CA349607225 | TTN,TTN-AS1 | c.41266A>T (p.Ser13756Cys) c.22351A>T (p.Ser7451Cys) c.22150A>T (p.Ser7384Cys) c.21775A>T (p.Ser7259Cys) c.48970A>T (p.Ser16324Cys) c.44047A>T (p.Ser14683Cys) n.1292T>A c.48067A>T (p.Ser16023Cys) c.21961A>T (p.Ser7321Cys) c.21820A>T (p.Ser7274Cys) c.47863A>T (p.Ser15955Cys) c.43261A>T (p.Ser14421Cys) c.43258A>T (p.Ser14420Cys) c.40300A>T (p.Ser13434Cys) c.21916A>T (p.Ser7306Cys) c.43411A>T (p.Ser14471Cys) c.43408A>T (p.Ser14470Cys) c.42841A>T (p.Ser14281Cys) c.40183A>T (p.Ser13395Cys) c.40102A>T (p.Ser13368Cys) c.21865A>T (p.Ser7289Cys) c.11719A>T (p.Ser3907Cys) | |
| 2 | g.178614544T>C | CA349607227 | TTN,TTN-AS1 | c.41266A>G (p.Ser13756Gly) c.22351A>G (p.Ser7451Gly) c.22150A>G (p.Ser7384Gly) c.21775A>G (p.Ser7259Gly) c.48970A>G (p.Ser16324Gly) c.44047A>G (p.Ser14683Gly) n.1292T>C c.48067A>G (p.Ser16023Gly) c.21961A>G (p.Ser7321Gly) c.21820A>G (p.Ser7274Gly) c.47863A>G (p.Ser15955Gly) c.43261A>G (p.Ser14421Gly) c.43258A>G (p.Ser14420Gly) c.40300A>G (p.Ser13434Gly) c.21916A>G (p.Ser7306Gly) c.43411A>G (p.Ser14471Gly) c.43408A>G (p.Ser14470Gly) c.42841A>G (p.Ser14281Gly) c.40183A>G (p.Ser13395Gly) c.40102A>G (p.Ser13368Gly) c.21865A>G (p.Ser7289Gly) c.11719A>G (p.Ser3907Gly) | |
| 2 | g.178614544T>G | CA1994714 | TTN,TTN-AS1 | c.41266A>C (p.Ser13756Arg) c.22351A>C (p.Ser7451Arg) c.22150A>C (p.Ser7384Arg) c.21775A>C (p.Ser7259Arg) c.48970A>C (p.Ser16324Arg) c.44047A>C (p.Ser14683Arg) n.1292T>G c.48067A>C (p.Ser16023Arg) c.21961A>C (p.Ser7321Arg) c.21820A>C (p.Ser7274Arg) c.47863A>C (p.Ser15955Arg) c.43261A>C (p.Ser14421Arg) c.43258A>C (p.Ser14420Arg) c.40300A>C (p.Ser13434Arg) c.21916A>C (p.Ser7306Arg) c.43411A>C (p.Ser14471Arg) c.43408A>C (p.Ser14470Arg) c.42841A>C (p.Ser14281Arg) c.40183A>C (p.Ser13395Arg) c.40102A>C (p.Ser13368Arg) c.21865A>C (p.Ser7289Arg) c.11719A>C (p.Ser3907Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178614544T= | CA1310549413 | TTN,TTN-AS1 | c.41266A= (p.Ser13756=) c.22351A= (p.Ser7451=) c.22150A= (p.Ser7384=) c.21775A= (p.Ser7259=) c.48970A= (p.Ser16324=) c.44047A= (p.Ser14683=) n.1292T= c.48067A= (p.Ser16023=) c.21961A= (p.Ser7321=) c.21820A= (p.Ser7274=) c.47863A= (p.Ser15955=) c.43261A= (p.Ser14421=) c.43258A= (p.Ser14420=) c.40300A= (p.Ser13434=) c.21916A= (p.Ser7306=) c.43411A= (p.Ser14471=) c.43408A= (p.Ser14470=) c.42841A= (p.Ser14281=) c.40183A= (p.Ser13395=) c.40102A= (p.Ser13368=) c.21865A= (p.Ser7289=) c.11719A= (p.Ser3907=) | |
| 2 | g.178614545T>A | CA349607228 | TTN,TTN-AS1 | c.41265A>T (p.Arg13755Ser) c.22350A>T (p.Arg7450Ser) c.22149A>T (p.Arg7383Ser) c.21774A>T (p.Arg7258Ser) c.48969A>T (p.Arg16323Ser) c.44046A>T (p.Arg14682Ser) n.1293T>A c.48066A>T (p.Arg16022Ser) c.21960A>T (p.Arg7320Ser) c.21819A>T (p.Arg7273Ser) c.47862A>T (p.Arg15954Ser) c.43260A>T (p.Arg14420Ser) c.43257A>T (p.Arg14419Ser) c.40299A>T (p.Arg13433Ser) c.21915A>T (p.Arg7305Ser) c.43410A>T (p.Arg14470Ser) c.43407A>T (p.Arg14469Ser) c.42840A>T (p.Arg14280Ser) c.40182A>T (p.Arg13394Ser) c.40101A>T (p.Arg13367Ser) c.21864A>T (p.Arg7288Ser) c.11718A>T (p.Arg3906Ser) | |
| 2 | g.178614545T>C | CA430273512 | TTN,TTN-AS1 | c.41265A>G (p.Arg13755=) c.22350A>G (p.Arg7450=) c.22149A>G (p.Arg7383=) c.21774A>G (p.Arg7258=) c.48969A>G (p.Arg16323=) c.44046A>G (p.Arg14682=) n.1293T>C c.48066A>G (p.Arg16022=) c.21960A>G (p.Arg7320=) c.21819A>G (p.Arg7273=) c.47862A>G (p.Arg15954=) c.43260A>G (p.Arg14420=) c.43257A>G (p.Arg14419=) c.40299A>G (p.Arg13433=) c.21915A>G (p.Arg7305=) c.43410A>G (p.Arg14470=) c.43407A>G (p.Arg14469=) c.42840A>G (p.Arg14280=) c.40182A>G (p.Arg13394=) c.40101A>G (p.Arg13367=) c.21864A>G (p.Arg7288=) c.11718A>G (p.Arg3906=) | ClinVar dbSNP |
| 2 | g.178614545T>G | CA349607230 | TTN,TTN-AS1 | c.41265A>C (p.Arg13755Ser) c.22350A>C (p.Arg7450Ser) c.22149A>C (p.Arg7383Ser) c.21774A>C (p.Arg7258Ser) c.48969A>C (p.Arg16323Ser) c.44046A>C (p.Arg14682Ser) n.1293T>G c.48066A>C (p.Arg16022Ser) c.21960A>C (p.Arg7320Ser) c.21819A>C (p.Arg7273Ser) c.47862A>C (p.Arg15954Ser) c.43260A>C (p.Arg14420Ser) c.43257A>C (p.Arg14419Ser) c.40299A>C (p.Arg13433Ser) c.21915A>C (p.Arg7305Ser) c.43410A>C (p.Arg14470Ser) c.43407A>C (p.Arg14469Ser) c.42840A>C (p.Arg14280Ser) c.40182A>C (p.Arg13394Ser) c.40101A>C (p.Arg13367Ser) c.21864A>C (p.Arg7288Ser) c.11718A>C (p.Arg3906Ser) | |
| 2 | g.178614546C>A | CA349607232 | TTN,TTN-AS1 | c.41264G>T (p.Arg13755Ile) c.22349G>T (p.Arg7450Ile) c.22148G>T (p.Arg7383Ile) c.21773G>T (p.Arg7258Ile) c.48968G>T (p.Arg16323Ile) c.44045G>T (p.Arg14682Ile) n.1294C>A c.48065G>T (p.Arg16022Ile) c.21959G>T (p.Arg7320Ile) c.21818G>T (p.Arg7273Ile) c.47861G>T (p.Arg15954Ile) c.43259G>T (p.Arg14420Ile) c.43256G>T (p.Arg14419Ile) c.40298G>T (p.Arg13433Ile) c.21914G>T (p.Arg7305Ile) c.43409G>T (p.Arg14470Ile) c.43406G>T (p.Arg14469Ile) c.42839G>T (p.Arg14280Ile) c.40181G>T (p.Arg13394Ile) c.40100G>T (p.Arg13367Ile) c.21863G>T (p.Arg7288Ile) c.11717G>T (p.Arg3906Ile) | gnomAD v4 |
| 2 | g.178614546C= | CA1310549414 | TTN,TTN-AS1 | c.41264G= (p.Arg13755=) c.22349G= (p.Arg7450=) c.22148G= (p.Arg7383=) c.21773G= (p.Arg7258=) c.48968G= (p.Arg16323=) c.44045G= (p.Arg14682=) n.1294C= c.48065G= (p.Arg16022=) c.21959G= (p.Arg7320=) c.21818G= (p.Arg7273=) c.47861G= (p.Arg15954=) c.43259G= (p.Arg14420=) c.43256G= (p.Arg14419=) c.40298G= (p.Arg13433=) c.21914G= (p.Arg7305=) c.43409G= (p.Arg14470=) c.43406G= (p.Arg14469=) c.42839G= (p.Arg14280=) c.40181G= (p.Arg13394=) c.40100G= (p.Arg13367=) c.21863G= (p.Arg7288=) c.11717G= (p.Arg3906=) | |
| 2 | g.178614546C>G | CA349607233 | TTN,TTN-AS1 | c.41264G>C (p.Arg13755Thr) c.22349G>C (p.Arg7450Thr) c.22148G>C (p.Arg7383Thr) c.21773G>C (p.Arg7258Thr) c.48968G>C (p.Arg16323Thr) c.44045G>C (p.Arg14682Thr) n.1294C>G c.48065G>C (p.Arg16022Thr) c.21959G>C (p.Arg7320Thr) c.21818G>C (p.Arg7273Thr) c.47861G>C (p.Arg15954Thr) c.43259G>C (p.Arg14420Thr) c.43256G>C (p.Arg14419Thr) c.40298G>C (p.Arg13433Thr) c.21914G>C (p.Arg7305Thr) c.43409G>C (p.Arg14470Thr) c.43406G>C (p.Arg14469Thr) c.42839G>C (p.Arg14280Thr) c.40181G>C (p.Arg13394Thr) c.40100G>C (p.Arg13367Thr) c.21863G>C (p.Arg7288Thr) c.11717G>C (p.Arg3906Thr) | |
| 2 | g.178614546C>T | CA349607235 | TTN,TTN-AS1 | c.41264G>A (p.Arg13755Lys) c.22349G>A (p.Arg7450Lys) c.22148G>A (p.Arg7383Lys) c.21773G>A (p.Arg7258Lys) c.48968G>A (p.Arg16323Lys) c.44045G>A (p.Arg14682Lys) n.1294C>T c.48065G>A (p.Arg16022Lys) c.21959G>A (p.Arg7320Lys) c.21818G>A (p.Arg7273Lys) c.47861G>A (p.Arg15954Lys) c.43259G>A (p.Arg14420Lys) c.43256G>A (p.Arg14419Lys) c.40298G>A (p.Arg13433Lys) c.21914G>A (p.Arg7305Lys) c.43409G>A (p.Arg14470Lys) c.43406G>A (p.Arg14469Lys) c.42839G>A (p.Arg14280Lys) c.40181G>A (p.Arg13394Lys) c.40100G>A (p.Arg13367Lys) c.21863G>A (p.Arg7288Lys) c.11717G>A (p.Arg3906Lys) | dbSNP |
| 2 | g.178614547T>A | CA349607236 | TTN,TTN-AS1 | c.41263A>T (p.Arg13755Ter) c.22348A>T (p.Arg7450Ter) c.22147A>T (p.Arg7383Ter) c.21772A>T (p.Arg7258Ter) c.48967A>T (p.Arg16323Ter) c.44044A>T (p.Arg14682Ter) n.1295T>A c.48064A>T (p.Arg16022Ter) c.21958A>T (p.Arg7320Ter) c.21817A>T (p.Arg7273Ter) c.47860A>T (p.Arg15954Ter) c.43258A>T (p.Arg14420Ter) c.43255A>T (p.Arg14419Ter) c.40297A>T (p.Arg13433Ter) c.21913A>T (p.Arg7305Ter) c.43408A>T (p.Arg14470Ter) c.43405A>T (p.Arg14469Ter) c.42838A>T (p.Arg14280Ter) c.40180A>T (p.Arg13394Ter) c.40099A>T (p.Arg13367Ter) c.21862A>T (p.Arg7288Ter) c.11716A>T (p.Arg3906Ter) | |
| 2 | g.178614547T>C | CA349607237 | TTN,TTN-AS1 | c.41263A>G (p.Arg13755Gly) c.22348A>G (p.Arg7450Gly) c.22147A>G (p.Arg7383Gly) c.21772A>G (p.Arg7258Gly) c.48967A>G (p.Arg16323Gly) c.44044A>G (p.Arg14682Gly) n.1295T>C c.48064A>G (p.Arg16022Gly) c.21958A>G (p.Arg7320Gly) c.21817A>G (p.Arg7273Gly) c.47860A>G (p.Arg15954Gly) c.43258A>G (p.Arg14420Gly) c.43255A>G (p.Arg14419Gly) c.40297A>G (p.Arg13433Gly) c.21913A>G (p.Arg7305Gly) c.43408A>G (p.Arg14470Gly) c.43405A>G (p.Arg14469Gly) c.42838A>G (p.Arg14280Gly) c.40180A>G (p.Arg13394Gly) c.40099A>G (p.Arg13367Gly) c.21862A>G (p.Arg7288Gly) c.11716A>G (p.Arg3906Gly) | |
| 2 | g.178614547T>G | CA430273516 | TTN,TTN-AS1 | c.41263A>C (p.Arg13755=) c.22348A>C (p.Arg7450=) c.22147A>C (p.Arg7383=) c.21772A>C (p.Arg7258=) c.48967A>C (p.Arg16323=) c.44044A>C (p.Arg14682=) n.1295T>G c.48064A>C (p.Arg16022=) c.21958A>C (p.Arg7320=) c.21817A>C (p.Arg7273=) c.47860A>C (p.Arg15954=) c.43258A>C (p.Arg14420=) c.43255A>C (p.Arg14419=) c.40297A>C (p.Arg13433=) c.21913A>C (p.Arg7305=) c.43408A>C (p.Arg14470=) c.43405A>C (p.Arg14469=) c.42838A>C (p.Arg14280=) c.40180A>C (p.Arg13394=) c.40099A>C (p.Arg13367=) c.21862A>C (p.Arg7288=) c.11716A>C (p.Arg3906=) | |
| 2 | g.178614547_178614551delinsTCTTA | CA1310549415 | TTN,TTN-AS1 | c.41259_41263delinsTAAGA (p.Ser13753=) c.22344_22348delinsTAAGA (p.Ser7448=) c.22143_22147delinsTAAGA (p.Ser7381=) c.21768_21772delinsTAAGA (p.Ser7256=) c.48963_48967delinsTAAGA (p.Ser16321=) c.44040_44044delinsTAAGA (p.Ser14680=) n.1295_1299delinsTCTTA c.48060_48064delinsTAAGA (p.Ser16020=) c.21954_21958delinsTAAGA (p.Ser7318=) c.21813_21817delinsTAAGA (p.Ser7271=) c.47856_47860delinsTAAGA (p.Ser15952=) c.43254_43258delinsTAAGA (p.Ser14418=) c.43251_43255delinsTAAGA (p.Ser14417=) c.40293_40297delinsTAAGA (p.Ser13431=) c.21909_21913delinsTAAGA (p.Ser7303=) c.43404_43408delinsTAAGA (p.Ser14468=) c.43401_43405delinsTAAGA (p.Ser14467=) c.42834_42838delinsTAAGA (p.Ser14278=) c.40176_40180delinsTAAGA (p.Ser13392=) c.40095_40099delinsTAAGA (p.Ser13365=) c.21858_21862delinsTAAGA (p.Ser7286=) c.11712_11716delinsTAAGA (p.Ser3904=) | |
| 2 | g.178614548C>A | CA349607240 | TTN,TTN-AS1 | c.41262G>T (p.Lys13754Asn) c.22347G>T (p.Lys7449Asn) c.22146G>T (p.Lys7382Asn) c.21771G>T (p.Lys7257Asn) c.48966G>T (p.Lys16322Asn) c.44043G>T (p.Lys14681Asn) n.1296C>A c.48063G>T (p.Lys16021Asn) c.21957G>T (p.Lys7319Asn) c.21816G>T (p.Lys7272Asn) c.47859G>T (p.Lys15953Asn) c.43257G>T (p.Lys14419Asn) c.43254G>T (p.Lys14418Asn) c.40296G>T (p.Lys13432Asn) c.21912G>T (p.Lys7304Asn) c.43407G>T (p.Lys14469Asn) c.43404G>T (p.Lys14468Asn) c.42837G>T (p.Lys14279Asn) c.40179G>T (p.Lys13393Asn) c.40098G>T (p.Lys13366Asn) c.21861G>T (p.Lys7287Asn) c.11715G>T (p.Lys3905Asn) | |
| 2 | g.178614548C>G | CA349607242 | TTN,TTN-AS1 | c.41262G>C (p.Lys13754Asn) c.22347G>C (p.Lys7449Asn) c.22146G>C (p.Lys7382Asn) c.21771G>C (p.Lys7257Asn) c.48966G>C (p.Lys16322Asn) c.44043G>C (p.Lys14681Asn) n.1296C>G c.48063G>C (p.Lys16021Asn) c.21957G>C (p.Lys7319Asn) c.21816G>C (p.Lys7272Asn) c.47859G>C (p.Lys15953Asn) c.43257G>C (p.Lys14419Asn) c.43254G>C (p.Lys14418Asn) c.40296G>C (p.Lys13432Asn) c.21912G>C (p.Lys7304Asn) c.43407G>C (p.Lys14469Asn) c.43404G>C (p.Lys14468Asn) c.42837G>C (p.Lys14279Asn) c.40179G>C (p.Lys13393Asn) c.40098G>C (p.Lys13366Asn) c.21861G>C (p.Lys7287Asn) c.11715G>C (p.Lys3905Asn) | |
| 2 | g.178614548C>T | CA430273517 | TTN,TTN-AS1 | c.41262G>A (p.Lys13754=) c.22347G>A (p.Lys7449=) c.22146G>A (p.Lys7382=) c.21771G>A (p.Lys7257=) c.48966G>A (p.Lys16322=) c.44043G>A (p.Lys14681=) n.1296C>T c.48063G>A (p.Lys16021=) c.21957G>A (p.Lys7319=) c.21816G>A (p.Lys7272=) c.47859G>A (p.Lys15953=) c.43257G>A (p.Lys14419=) c.43254G>A (p.Lys14418=) c.40296G>A (p.Lys13432=) c.21912G>A (p.Lys7304=) c.43407G>A (p.Lys14469=) c.43404G>A (p.Lys14468=) c.42837G>A (p.Lys14279=) c.40179G>A (p.Lys13393=) c.40098G>A (p.Lys13366=) c.21861G>A (p.Lys7287=) c.11715G>A (p.Lys3905=) | gnomAD v4 |
| 2 | g.178614550_178614553del | CA658796071 | TTN,TTN-AS1 | c.41259_41262del (p.Ser13753ArgfsTer13) c.22344_22347del (p.Ser7448ArgfsTer13) c.22143_22146del (p.Ser7381ArgfsTer13) c.21768_21771del (p.Ser7256ArgfsTer13) c.48963_48966del (p.Ser16321ArgfsTer13) c.44040_44043del (p.Ser14680ArgfsTer13) n.1298_1301del c.48060_48063del (p.Ser16020ArgfsTer13) c.21954_21957del (p.Ser7318ArgfsTer13) c.21813_21816del (p.Ser7271ArgfsTer13) c.47856_47859del (p.Ser15952ArgfsTer13) c.43254_43257del (p.Ser14418ArgfsTer13) c.43251_43254del (p.Ser14417ArgfsTer13) c.40293_40296del (p.Ser13431ArgfsTer13) c.21909_21912del (p.Ser7303ArgfsTer13) c.43404_43407del (p.Ser14468ArgfsTer13) c.43401_43404del (p.Ser14467ArgfsTer13) c.42834_42837del (p.Ser14278ArgfsTer13) c.40176_40179del (p.Ser13392ArgfsTer13) c.40095_40098del (p.Ser13365ArgfsTer13) c.21858_21861del (p.Ser7286ArgfsTer13) c.11712_11715del (p.Ser3904ArgfsTer13) | ClinVar dbSNP |
| 2 | g.178614549T>A | CA349607244 | TTN,TTN-AS1 | c.41261A>T (p.Lys13754Met) c.22346A>T (p.Lys7449Met) c.22145A>T (p.Lys7382Met) c.21770A>T (p.Lys7257Met) c.48965A>T (p.Lys16322Met) c.44042A>T (p.Lys14681Met) n.1297T>A c.48062A>T (p.Lys16021Met) c.21956A>T (p.Lys7319Met) c.21815A>T (p.Lys7272Met) c.47858A>T (p.Lys15953Met) c.43256A>T (p.Lys14419Met) c.43253A>T (p.Lys14418Met) c.40295A>T (p.Lys13432Met) c.21911A>T (p.Lys7304Met) c.43406A>T (p.Lys14469Met) c.43403A>T (p.Lys14468Met) c.42836A>T (p.Lys14279Met) c.40178A>T (p.Lys13393Met) c.40097A>T (p.Lys13366Met) c.21860A>T (p.Lys7287Met) c.11714A>T (p.Lys3905Met) | |
| 2 | g.178614549T>C | CA349607246 | TTN,TTN-AS1 | c.41261A>G (p.Lys13754Arg) c.22346A>G (p.Lys7449Arg) c.22145A>G (p.Lys7382Arg) c.21770A>G (p.Lys7257Arg) c.48965A>G (p.Lys16322Arg) c.44042A>G (p.Lys14681Arg) n.1297T>C c.48062A>G (p.Lys16021Arg) c.21956A>G (p.Lys7319Arg) c.21815A>G (p.Lys7272Arg) c.47858A>G (p.Lys15953Arg) c.43256A>G (p.Lys14419Arg) c.43253A>G (p.Lys14418Arg) c.40295A>G (p.Lys13432Arg) c.21911A>G (p.Lys7304Arg) c.43406A>G (p.Lys14469Arg) c.43403A>G (p.Lys14468Arg) c.42836A>G (p.Lys14279Arg) c.40178A>G (p.Lys13393Arg) c.40097A>G (p.Lys13366Arg) c.21860A>G (p.Lys7287Arg) c.11714A>G (p.Lys3905Arg) | |
| 2 | g.178614549T>G | CA349607248 | TTN,TTN-AS1 | c.41261A>C (p.Lys13754Thr) c.22346A>C (p.Lys7449Thr) c.22145A>C (p.Lys7382Thr) c.21770A>C (p.Lys7257Thr) c.48965A>C (p.Lys16322Thr) c.44042A>C (p.Lys14681Thr) n.1297T>G c.48062A>C (p.Lys16021Thr) c.21956A>C (p.Lys7319Thr) c.21815A>C (p.Lys7272Thr) c.47858A>C (p.Lys15953Thr) c.43256A>C (p.Lys14419Thr) c.43253A>C (p.Lys14418Thr) c.40295A>C (p.Lys13432Thr) c.21911A>C (p.Lys7304Thr) c.43406A>C (p.Lys14469Thr) c.43403A>C (p.Lys14468Thr) c.42836A>C (p.Lys14279Thr) c.40178A>C (p.Lys13393Thr) c.40097A>C (p.Lys13366Thr) c.21860A>C (p.Lys7287Thr) c.11714A>C (p.Lys3905Thr) | |
| 2 | g.178614550T>A | CA349607252 | TTN,TTN-AS1 | c.41260A>T (p.Lys13754Ter) c.22345A>T (p.Lys7449Ter) c.22144A>T (p.Lys7382Ter) c.21769A>T (p.Lys7257Ter) c.48964A>T (p.Lys16322Ter) c.44041A>T (p.Lys14681Ter) n.1298T>A c.48061A>T (p.Lys16021Ter) c.21955A>T (p.Lys7319Ter) c.21814A>T (p.Lys7272Ter) c.47857A>T (p.Lys15953Ter) c.43255A>T (p.Lys14419Ter) c.43252A>T (p.Lys14418Ter) c.40294A>T (p.Lys13432Ter) c.21910A>T (p.Lys7304Ter) c.43405A>T (p.Lys14469Ter) c.43402A>T (p.Lys14468Ter) c.42835A>T (p.Lys14279Ter) c.40177A>T (p.Lys13393Ter) c.40096A>T (p.Lys13366Ter) c.21859A>T (p.Lys7287Ter) c.11713A>T (p.Lys3905Ter) | |
| 2 | g.178614550T>C | CA349607254 | TTN,TTN-AS1 | c.41260A>G (p.Lys13754Glu) c.22345A>G (p.Lys7449Glu) c.22144A>G (p.Lys7382Glu) c.21769A>G (p.Lys7257Glu) c.48964A>G (p.Lys16322Glu) c.44041A>G (p.Lys14681Glu) n.1298T>C c.48061A>G (p.Lys16021Glu) c.21955A>G (p.Lys7319Glu) c.21814A>G (p.Lys7272Glu) c.47857A>G (p.Lys15953Glu) c.43255A>G (p.Lys14419Glu) c.43252A>G (p.Lys14418Glu) c.40294A>G (p.Lys13432Glu) c.21910A>G (p.Lys7304Glu) c.43405A>G (p.Lys14469Glu) c.43402A>G (p.Lys14468Glu) c.42835A>G (p.Lys14279Glu) c.40177A>G (p.Lys13393Glu) c.40096A>G (p.Lys13366Glu) c.21859A>G (p.Lys7287Glu) c.11713A>G (p.Lys3905Glu) | |
| 2 | g.178614550T>G | CA349607250 | TTN,TTN-AS1 | c.41260A>C (p.Lys13754Gln) c.22345A>C (p.Lys7449Gln) c.22144A>C (p.Lys7382Gln) c.21769A>C (p.Lys7257Gln) c.48964A>C (p.Lys16322Gln) c.44041A>C (p.Lys14681Gln) n.1298T>G c.48061A>C (p.Lys16021Gln) c.21955A>C (p.Lys7319Gln) c.21814A>C (p.Lys7272Gln) c.47857A>C (p.Lys15953Gln) c.43255A>C (p.Lys14419Gln) c.43252A>C (p.Lys14418Gln) c.40294A>C (p.Lys13432Gln) c.21910A>C (p.Lys7304Gln) c.43405A>C (p.Lys14469Gln) c.43402A>C (p.Lys14468Gln) c.42835A>C (p.Lys14279Gln) c.40177A>C (p.Lys13393Gln) c.40096A>C (p.Lys13366Gln) c.21859A>C (p.Lys7287Gln) c.11713A>C (p.Lys3905Gln) | |
| 2 | g.178614551A= | CA1310549416 | TTN,TTN-AS1 | c.41259T= (p.Ser13753=) c.22344T= (p.Ser7448=) c.22143T= (p.Ser7381=) c.21768T= (p.Ser7256=) c.48963T= (p.Ser16321=) c.44040T= (p.Ser14680=) n.1299A= c.48060T= (p.Ser16020=) c.21954T= (p.Ser7318=) c.21813T= (p.Ser7271=) c.47856T= (p.Ser15952=) c.43254T= (p.Ser14418=) c.43251T= (p.Ser14417=) c.40293T= (p.Ser13431=) c.21909T= (p.Ser7303=) c.43404T= (p.Ser14468=) c.43401T= (p.Ser14467=) c.42834T= (p.Ser14278=) c.40176T= (p.Ser13392=) c.40095T= (p.Ser13365=) c.21858T= (p.Ser7286=) c.11712T= (p.Ser3904=) | |
| 2 | g.178614551A>C | CA349607256 | TTN,TTN-AS1 | c.41259T>G (p.Ser13753Arg) c.22344T>G (p.Ser7448Arg) c.22143T>G (p.Ser7381Arg) c.21768T>G (p.Ser7256Arg) c.48963T>G (p.Ser16321Arg) c.44040T>G (p.Ser14680Arg) n.1299A>C c.48060T>G (p.Ser16020Arg) c.21954T>G (p.Ser7318Arg) c.21813T>G (p.Ser7271Arg) c.47856T>G (p.Ser15952Arg) c.43254T>G (p.Ser14418Arg) c.43251T>G (p.Ser14417Arg) c.40293T>G (p.Ser13431Arg) c.21909T>G (p.Ser7303Arg) c.43404T>G (p.Ser14468Arg) c.43401T>G (p.Ser14467Arg) c.42834T>G (p.Ser14278Arg) c.40176T>G (p.Ser13392Arg) c.40095T>G (p.Ser13365Arg) c.21858T>G (p.Ser7286Arg) c.11712T>G (p.Ser3904Arg) | dbSNP |
| 2 | g.178614551A>G | CA430273525 | TTN,TTN-AS1 | c.41259T>C (p.Ser13753=) c.22344T>C (p.Ser7448=) c.22143T>C (p.Ser7381=) c.21768T>C (p.Ser7256=) c.48963T>C (p.Ser16321=) c.44040T>C (p.Ser14680=) n.1299A>G c.48060T>C (p.Ser16020=) c.21954T>C (p.Ser7318=) c.21813T>C (p.Ser7271=) c.47856T>C (p.Ser15952=) c.43254T>C (p.Ser14418=) c.43251T>C (p.Ser14417=) c.40293T>C (p.Ser13431=) c.21909T>C (p.Ser7303=) c.43404T>C (p.Ser14468=) c.43401T>C (p.Ser14467=) c.42834T>C (p.Ser14278=) c.40176T>C (p.Ser13392=) c.40095T>C (p.Ser13365=) c.21858T>C (p.Ser7286=) c.11712T>C (p.Ser3904=) | |
| 2 | g.178614551A>T | CA349607257 | TTN,TTN-AS1 | c.41259T>A (p.Ser13753Arg) c.22344T>A (p.Ser7448Arg) c.22143T>A (p.Ser7381Arg) c.21768T>A (p.Ser7256Arg) c.48963T>A (p.Ser16321Arg) c.44040T>A (p.Ser14680Arg) n.1299A>T c.48060T>A (p.Ser16020Arg) c.21954T>A (p.Ser7318Arg) c.21813T>A (p.Ser7271Arg) c.47856T>A (p.Ser15952Arg) c.43254T>A (p.Ser14418Arg) c.43251T>A (p.Ser14417Arg) c.40293T>A (p.Ser13431Arg) c.21909T>A (p.Ser7303Arg) c.43404T>A (p.Ser14468Arg) c.43401T>A (p.Ser14467Arg) c.42834T>A (p.Ser14278Arg) c.40176T>A (p.Ser13392Arg) c.40095T>A (p.Ser13365Arg) c.21858T>A (p.Ser7286Arg) c.11712T>A (p.Ser3904Arg) | |
| 2 | g.178614552C>A | CA349607258 | TTN,TTN-AS1 | c.41258G>T (p.Ser13753Ile) c.22343G>T (p.Ser7448Ile) c.22142G>T (p.Ser7381Ile) c.21767G>T (p.Ser7256Ile) c.48962G>T (p.Ser16321Ile) c.44039G>T (p.Ser14680Ile) n.1300C>A c.48059G>T (p.Ser16020Ile) c.21953G>T (p.Ser7318Ile) c.21812G>T (p.Ser7271Ile) c.47855G>T (p.Ser15952Ile) c.43253G>T (p.Ser14418Ile) c.43250G>T (p.Ser14417Ile) c.40292G>T (p.Ser13431Ile) c.21908G>T (p.Ser7303Ile) c.43403G>T (p.Ser14468Ile) c.43400G>T (p.Ser14467Ile) c.42833G>T (p.Ser14278Ile) c.40175G>T (p.Ser13392Ile) c.40094G>T (p.Ser13365Ile) c.21857G>T (p.Ser7286Ile) c.11711G>T (p.Ser3904Ile) | |
| 2 | g.178614552C= | CA1310549417 | TTN,TTN-AS1 | c.41258G= (p.Ser13753=) c.22343G= (p.Ser7448=) c.22142G= (p.Ser7381=) c.21767G= (p.Ser7256=) c.48962G= (p.Ser16321=) c.44039G= (p.Ser14680=) n.1300C= c.48059G= (p.Ser16020=) c.21953G= (p.Ser7318=) c.21812G= (p.Ser7271=) c.47855G= (p.Ser15952=) c.43253G= (p.Ser14418=) c.43250G= (p.Ser14417=) c.40292G= (p.Ser13431=) c.21908G= (p.Ser7303=) c.43403G= (p.Ser14468=) c.43400G= (p.Ser14467=) c.42833G= (p.Ser14278=) c.40175G= (p.Ser13392=) c.40094G= (p.Ser13365=) c.21857G= (p.Ser7286=) c.11711G= (p.Ser3904=) | |
| 2 | g.178614552C>G | CA349607259 | TTN,TTN-AS1 | c.41258G>C (p.Ser13753Thr) c.22343G>C (p.Ser7448Thr) c.22142G>C (p.Ser7381Thr) c.21767G>C (p.Ser7256Thr) c.48962G>C (p.Ser16321Thr) c.44039G>C (p.Ser14680Thr) n.1300C>G c.48059G>C (p.Ser16020Thr) c.21953G>C (p.Ser7318Thr) c.21812G>C (p.Ser7271Thr) c.47855G>C (p.Ser15952Thr) c.43253G>C (p.Ser14418Thr) c.43250G>C (p.Ser14417Thr) c.40292G>C (p.Ser13431Thr) c.21908G>C (p.Ser7303Thr) c.43403G>C (p.Ser14468Thr) c.43400G>C (p.Ser14467Thr) c.42833G>C (p.Ser14278Thr) c.40175G>C (p.Ser13392Thr) c.40094G>C (p.Ser13365Thr) c.21857G>C (p.Ser7286Thr) c.11711G>C (p.Ser3904Thr) | |
| 2 | g.178614552C>T | CA60987653 | TTN,TTN-AS1 | c.41258G>A (p.Ser13753Asn) c.22343G>A (p.Ser7448Asn) c.22142G>A (p.Ser7381Asn) c.21767G>A (p.Ser7256Asn) c.48962G>A (p.Ser16321Asn) c.44039G>A (p.Ser14680Asn) n.1300C>T c.48059G>A (p.Ser16020Asn) c.21953G>A (p.Ser7318Asn) c.21812G>A (p.Ser7271Asn) c.47855G>A (p.Ser15952Asn) c.43253G>A (p.Ser14418Asn) c.43250G>A (p.Ser14417Asn) c.40292G>A (p.Ser13431Asn) c.21908G>A (p.Ser7303Asn) c.43403G>A (p.Ser14468Asn) c.43400G>A (p.Ser14467Asn) c.42833G>A (p.Ser14278Asn) c.40175G>A (p.Ser13392Asn) c.40094G>A (p.Ser13365Asn) c.21857G>A (p.Ser7286Asn) c.11711G>A (p.Ser3904Asn) | dbSNP |
| 2 | g.178614553T>A | CA349607263 | TTN,TTN-AS1 | c.41257A>T (p.Ser13753Cys) c.22342A>T (p.Ser7448Cys) c.22141A>T (p.Ser7381Cys) c.21766A>T (p.Ser7256Cys) c.48961A>T (p.Ser16321Cys) c.44038A>T (p.Ser14680Cys) n.1301T>A c.48058A>T (p.Ser16020Cys) c.21952A>T (p.Ser7318Cys) c.21811A>T (p.Ser7271Cys) c.47854A>T (p.Ser15952Cys) c.43252A>T (p.Ser14418Cys) c.43249A>T (p.Ser14417Cys) c.40291A>T (p.Ser13431Cys) c.21907A>T (p.Ser7303Cys) c.43402A>T (p.Ser14468Cys) c.43399A>T (p.Ser14467Cys) c.42832A>T (p.Ser14278Cys) c.40174A>T (p.Ser13392Cys) c.40093A>T (p.Ser13365Cys) c.21856A>T (p.Ser7286Cys) c.11710A>T (p.Ser3904Cys) | |
| 2 | g.178614553T>C | CA349607264 | TTN,TTN-AS1 | c.41257A>G (p.Ser13753Gly) c.22342A>G (p.Ser7448Gly) c.22141A>G (p.Ser7381Gly) c.21766A>G (p.Ser7256Gly) c.48961A>G (p.Ser16321Gly) c.44038A>G (p.Ser14680Gly) n.1301T>C c.48058A>G (p.Ser16020Gly) c.21952A>G (p.Ser7318Gly) c.21811A>G (p.Ser7271Gly) c.47854A>G (p.Ser15952Gly) c.43252A>G (p.Ser14418Gly) c.43249A>G (p.Ser14417Gly) c.40291A>G (p.Ser13431Gly) c.21907A>G (p.Ser7303Gly) c.43402A>G (p.Ser14468Gly) c.43399A>G (p.Ser14467Gly) c.42832A>G (p.Ser14278Gly) c.40174A>G (p.Ser13392Gly) c.40093A>G (p.Ser13365Gly) c.21856A>G (p.Ser7286Gly) c.11710A>G (p.Ser3904Gly) | |
| 2 | g.178614553T>G | CA349607267 | TTN,TTN-AS1 | c.41257A>C (p.Ser13753Arg) c.22342A>C (p.Ser7448Arg) c.22141A>C (p.Ser7381Arg) c.21766A>C (p.Ser7256Arg) c.48961A>C (p.Ser16321Arg) c.44038A>C (p.Ser14680Arg) n.1301T>G c.48058A>C (p.Ser16020Arg) c.21952A>C (p.Ser7318Arg) c.21811A>C (p.Ser7271Arg) c.47854A>C (p.Ser15952Arg) c.43252A>C (p.Ser14418Arg) c.43249A>C (p.Ser14417Arg) c.40291A>C (p.Ser13431Arg) c.21907A>C (p.Ser7303Arg) c.43402A>C (p.Ser14468Arg) c.43399A>C (p.Ser14467Arg) c.42832A>C (p.Ser14278Arg) c.40174A>C (p.Ser13392Arg) c.40093A>C (p.Ser13365Arg) c.21856A>C (p.Ser7286Arg) c.11710A>C (p.Ser3904Arg) | |
| 2 | g.178614554A= | CA1310549418 | TTN,TTN-AS1 | c.41256T= (p.Asp13752=) c.22341T= (p.Asp7447=) c.22140T= (p.Asp7380=) c.21765T= (p.Asp7255=) c.48960T= (p.Asp16320=) c.44037T= (p.Asp14679=) n.1302A= c.48057T= (p.Asp16019=) c.21951T= (p.Asp7317=) c.21810T= (p.Asp7270=) c.47853T= (p.Asp15951=) c.43251T= (p.Asp14417=) c.43248T= (p.Asp14416=) c.40290T= (p.Asp13430=) c.21906T= (p.Asp7302=) c.43401T= (p.Asp14467=) c.43398T= (p.Asp14466=) c.42831T= (p.Asp14277=) c.40173T= (p.Asp13391=) c.40092T= (p.Asp13364=) c.21855T= (p.Asp7285=) c.11709T= (p.Asp3903=) | |
| 2 | g.178614554A>C | CA349607271 | TTN,TTN-AS1 | c.41256T>G (p.Asp13752Glu) c.22341T>G (p.Asp7447Glu) c.22140T>G (p.Asp7380Glu) c.21765T>G (p.Asp7255Glu) c.48960T>G (p.Asp16320Glu) c.44037T>G (p.Asp14679Glu) n.1302A>C c.48057T>G (p.Asp16019Glu) c.21951T>G (p.Asp7317Glu) c.21810T>G (p.Asp7270Glu) c.47853T>G (p.Asp15951Glu) c.43251T>G (p.Asp14417Glu) c.43248T>G (p.Asp14416Glu) c.40290T>G (p.Asp13430Glu) c.21906T>G (p.Asp7302Glu) c.43401T>G (p.Asp14467Glu) c.43398T>G (p.Asp14466Glu) c.42831T>G (p.Asp14277Glu) c.40173T>G (p.Asp13391Glu) c.40092T>G (p.Asp13364Glu) c.21855T>G (p.Asp7285Glu) c.11709T>G (p.Asp3903Glu) | |
| 2 | g.178614554A>G | CA16604152 | TTN,TTN-AS1 | c.41256T>C (p.Asp13752=) c.22341T>C (p.Asp7447=) c.22140T>C (p.Asp7380=) c.21765T>C (p.Asp7255=) c.48960T>C (p.Asp16320=) c.44037T>C (p.Asp14679=) n.1302A>G c.48057T>C (p.Asp16019=) c.21951T>C (p.Asp7317=) c.21810T>C (p.Asp7270=) c.47853T>C (p.Asp15951=) c.43251T>C (p.Asp14417=) c.43248T>C (p.Asp14416=) c.40290T>C (p.Asp13430=) c.21906T>C (p.Asp7302=) c.43401T>C (p.Asp14467=) c.43398T>C (p.Asp14466=) c.42831T>C (p.Asp14277=) c.40173T>C (p.Asp13391=) c.40092T>C (p.Asp13364=) c.21855T>C (p.Asp7285=) c.11709T>C (p.Asp3903=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178614554A>T | CA349607269 | TTN,TTN-AS1 | c.41256T>A (p.Asp13752Glu) c.22341T>A (p.Asp7447Glu) c.22140T>A (p.Asp7380Glu) c.21765T>A (p.Asp7255Glu) c.48960T>A (p.Asp16320Glu) c.44037T>A (p.Asp14679Glu) n.1302A>T c.48057T>A (p.Asp16019Glu) c.21951T>A (p.Asp7317Glu) c.21810T>A (p.Asp7270Glu) c.47853T>A (p.Asp15951Glu) c.43251T>A (p.Asp14417Glu) c.43248T>A (p.Asp14416Glu) c.40290T>A (p.Asp13430Glu) c.21906T>A (p.Asp7302Glu) c.43401T>A (p.Asp14467Glu) c.43398T>A (p.Asp14466Glu) c.42831T>A (p.Asp14277Glu) c.40173T>A (p.Asp13391Glu) c.40092T>A (p.Asp13364Glu) c.21855T>A (p.Asp7285Glu) c.11709T>A (p.Asp3903Glu) | |
| 2 | g.178614555_178614558dup | CA2662132184 | TTN,TTN-AS1 | c.41253_41256dup (p.Ser13753Ter) c.22338_22341dup (p.Ser7448Ter) c.22137_22140dup (p.Ser7381Ter) c.21762_21765dup (p.Ser7256Ter) c.48957_48960dup (p.Ser16321Ter) c.44034_44037dup (p.Ser14680Ter) n.1303_1306dup c.48054_48057dup (p.Ser16020Ter) c.21948_21951dup (p.Ser7318Ter) c.21807_21810dup (p.Ser7271Ter) c.47850_47853dup (p.Ser15952Ter) c.43248_43251dup (p.Ser14418Ter) c.43245_43248dup (p.Ser14417Ter) c.40287_40290dup (p.Ser13431Ter) c.21903_21906dup (p.Ser7303Ter) c.43398_43401dup (p.Ser14468Ter) c.43395_43398dup (p.Ser14467Ter) c.42828_42831dup (p.Ser14278Ter) c.40170_40173dup (p.Ser13392Ter) c.40089_40092dup (p.Ser13365Ter) c.21852_21855dup (p.Ser7286Ter) c.11706_11709dup (p.Ser3904Ter) | gnomAD v4 |
| 2 | g.178614555T>A | CA349607273 | TTN,TTN-AS1 | c.41255A>T (p.Asp13752Val) c.22340A>T (p.Asp7447Val) c.22139A>T (p.Asp7380Val) c.21764A>T (p.Asp7255Val) c.48959A>T (p.Asp16320Val) c.44036A>T (p.Asp14679Val) n.1303T>A c.48056A>T (p.Asp16019Val) c.21950A>T (p.Asp7317Val) c.21809A>T (p.Asp7270Val) c.47852A>T (p.Asp15951Val) c.43250A>T (p.Asp14417Val) c.43247A>T (p.Asp14416Val) c.40289A>T (p.Asp13430Val) c.21905A>T (p.Asp7302Val) c.43400A>T (p.Asp14467Val) c.43397A>T (p.Asp14466Val) c.42830A>T (p.Asp14277Val) c.40172A>T (p.Asp13391Val) c.40091A>T (p.Asp13364Val) c.21854A>T (p.Asp7285Val) c.11708A>T (p.Asp3903Val) |