| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178614745C>A | CA349608057 | TTN,TTN-AS1 | c.41065G>T (p.Glu13689Ter) c.22150G>T (p.Glu7384Ter) c.21949G>T (p.Glu7317Ter) c.21574G>T (p.Glu7192Ter) c.48769G>T (p.Glu16257Ter) c.43846G>T (p.Glu14616Ter) n.1493C>A c.47866G>T (p.Glu15956Ter) c.21760G>T (p.Glu7254Ter) c.21619G>T (p.Glu7207Ter) c.47662G>T (p.Glu15888Ter) c.43060G>T (p.Glu14354Ter) c.43057G>T (p.Glu14353Ter) c.40099G>T (p.Glu13367Ter) c.21715G>T (p.Glu7239Ter) c.43210G>T (p.Glu14404Ter) c.43207G>T (p.Glu14403Ter) c.42640G>T (p.Glu14214Ter) c.39982G>T (p.Glu13328Ter) c.39901G>T (p.Glu13301Ter) c.21664G>T (p.Glu7222Ter) c.11518G>T (p.Glu3840Ter) | |
| 2 | g.178614745C= | CA1310549493 | TTN,TTN-AS1 | c.41065G= (p.Glu13689=) c.22150G= (p.Glu7384=) c.21949G= (p.Glu7317=) c.21574G= (p.Glu7192=) c.48769G= (p.Glu16257=) c.43846G= (p.Glu14616=) n.1493C= c.47866G= (p.Glu15956=) c.21760G= (p.Glu7254=) c.21619G= (p.Glu7207=) c.47662G= (p.Glu15888=) c.43060G= (p.Glu14354=) c.43057G= (p.Glu14353=) c.40099G= (p.Glu13367=) c.21715G= (p.Glu7239=) c.43210G= (p.Glu14404=) c.43207G= (p.Glu14403=) c.42640G= (p.Glu14214=) c.39982G= (p.Glu13328=) c.39901G= (p.Glu13301=) c.21664G= (p.Glu7222=) c.11518G= (p.Glu3840=) | |
| 2 | g.178614745C>G | CA349608059 | TTN,TTN-AS1 | c.41065G>C (p.Glu13689Gln) c.22150G>C (p.Glu7384Gln) c.21949G>C (p.Glu7317Gln) c.21574G>C (p.Glu7192Gln) c.48769G>C (p.Glu16257Gln) c.43846G>C (p.Glu14616Gln) n.1493C>G c.47866G>C (p.Glu15956Gln) c.21760G>C (p.Glu7254Gln) c.21619G>C (p.Glu7207Gln) c.47662G>C (p.Glu15888Gln) c.43060G>C (p.Glu14354Gln) c.43057G>C (p.Glu14353Gln) c.40099G>C (p.Glu13367Gln) c.21715G>C (p.Glu7239Gln) c.43210G>C (p.Glu14404Gln) c.43207G>C (p.Glu14403Gln) c.42640G>C (p.Glu14214Gln) c.39982G>C (p.Glu13328Gln) c.39901G>C (p.Glu13301Gln) c.21664G>C (p.Glu7222Gln) c.11518G>C (p.Glu3840Gln) | |
| 2 | g.178614745C>T | CA349608061 | TTN,TTN-AS1 | c.41065G>A (p.Glu13689Lys) c.22150G>A (p.Glu7384Lys) c.21949G>A (p.Glu7317Lys) c.21574G>A (p.Glu7192Lys) c.48769G>A (p.Glu16257Lys) c.43846G>A (p.Glu14616Lys) n.1493C>T c.47866G>A (p.Glu15956Lys) c.21760G>A (p.Glu7254Lys) c.21619G>A (p.Glu7207Lys) c.47662G>A (p.Glu15888Lys) c.43060G>A (p.Glu14354Lys) c.43057G>A (p.Glu14353Lys) c.40099G>A (p.Glu13367Lys) c.21715G>A (p.Glu7239Lys) c.43210G>A (p.Glu14404Lys) c.43207G>A (p.Glu14403Lys) c.42640G>A (p.Glu14214Lys) c.39982G>A (p.Glu13328Lys) c.39901G>A (p.Glu13301Lys) c.21664G>A (p.Glu7222Lys) c.11518G>A (p.Glu3840Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178614746T>A | CA430104091 | TTN,TTN-AS1 | c.41064A>T (p.Pro13688=) c.22149A>T (p.Pro7383=) c.21948A>T (p.Pro7316=) c.21573A>T (p.Pro7191=) c.48768A>T (p.Pro16256=) c.43845A>T (p.Pro14615=) n.1494T>A c.47865A>T (p.Pro15955=) c.21759A>T (p.Pro7253=) c.21618A>T (p.Pro7206=) c.47661A>T (p.Pro15887=) c.43059A>T (p.Pro14353=) c.43056A>T (p.Pro14352=) c.40098A>T (p.Pro13366=) c.21714A>T (p.Pro7238=) c.43209A>T (p.Pro14403=) c.43206A>T (p.Pro14402=) c.42639A>T (p.Pro14213=) c.39981A>T (p.Pro13327=) c.39900A>T (p.Pro13300=) c.21663A>T (p.Pro7221=) c.11517A>T (p.Pro3839=) | |
| 2 | g.178614746T>C | CA1994746 | TTN,TTN-AS1 | c.41064A>G (p.Pro13688=) c.22149A>G (p.Pro7383=) c.21948A>G (p.Pro7316=) c.21573A>G (p.Pro7191=) c.48768A>G (p.Pro16256=) c.43845A>G (p.Pro14615=) n.1494T>C c.47865A>G (p.Pro15955=) c.21759A>G (p.Pro7253=) c.21618A>G (p.Pro7206=) c.47661A>G (p.Pro15887=) c.43059A>G (p.Pro14353=) c.43056A>G (p.Pro14352=) c.40098A>G (p.Pro13366=) c.21714A>G (p.Pro7238=) c.43209A>G (p.Pro14403=) c.43206A>G (p.Pro14402=) c.42639A>G (p.Pro14213=) c.39981A>G (p.Pro13327=) c.39900A>G (p.Pro13300=) c.21663A>G (p.Pro7221=) c.11517A>G (p.Pro3839=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178614746T>G | CA430104094 | TTN,TTN-AS1 | c.41064A>C (p.Pro13688=) c.22149A>C (p.Pro7383=) c.21948A>C (p.Pro7316=) c.21573A>C (p.Pro7191=) c.48768A>C (p.Pro16256=) c.43845A>C (p.Pro14615=) n.1494T>G c.47865A>C (p.Pro15955=) c.21759A>C (p.Pro7253=) c.21618A>C (p.Pro7206=) c.47661A>C (p.Pro15887=) c.43059A>C (p.Pro14353=) c.43056A>C (p.Pro14352=) c.40098A>C (p.Pro13366=) c.21714A>C (p.Pro7238=) c.43209A>C (p.Pro14403=) c.43206A>C (p.Pro14402=) c.42639A>C (p.Pro14213=) c.39981A>C (p.Pro13327=) c.39900A>C (p.Pro13300=) c.21663A>C (p.Pro7221=) c.11517A>C (p.Pro3839=) | |
| 2 | g.178614746T= | CA1310549494 | TTN,TTN-AS1 | c.41064A= (p.Pro13688=) c.22149A= (p.Pro7383=) c.21948A= (p.Pro7316=) c.21573A= (p.Pro7191=) c.48768A= (p.Pro16256=) c.43845A= (p.Pro14615=) n.1494T= c.47865A= (p.Pro15955=) c.21759A= (p.Pro7253=) c.21618A= (p.Pro7206=) c.47661A= (p.Pro15887=) c.43059A= (p.Pro14353=) c.43056A= (p.Pro14352=) c.40098A= (p.Pro13366=) c.21714A= (p.Pro7238=) c.43209A= (p.Pro14403=) c.43206A= (p.Pro14402=) c.42639A= (p.Pro14213=) c.39981A= (p.Pro13327=) c.39900A= (p.Pro13300=) c.21663A= (p.Pro7221=) c.11517A= (p.Pro3839=) | |
| 2 | g.178614747G>A | CA349608067 | TTN,TTN-AS1 | c.41063C>T (p.Pro13688Leu) c.22148C>T (p.Pro7383Leu) c.21947C>T (p.Pro7316Leu) c.21572C>T (p.Pro7191Leu) c.48767C>T (p.Pro16256Leu) c.43844C>T (p.Pro14615Leu) n.1495G>A c.47864C>T (p.Pro15955Leu) c.21758C>T (p.Pro7253Leu) c.21617C>T (p.Pro7206Leu) c.47660C>T (p.Pro15887Leu) c.43058C>T (p.Pro14353Leu) c.43055C>T (p.Pro14352Leu) c.40097C>T (p.Pro13366Leu) c.21713C>T (p.Pro7238Leu) c.43208C>T (p.Pro14403Leu) c.43205C>T (p.Pro14402Leu) c.42638C>T (p.Pro14213Leu) c.39980C>T (p.Pro13327Leu) c.39899C>T (p.Pro13300Leu) c.21662C>T (p.Pro7221Leu) c.11516C>T (p.Pro3839Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178614747G>C | CA349608064 | TTN,TTN-AS1 | c.41063C>G (p.Pro13688Arg) c.22148C>G (p.Pro7383Arg) c.21947C>G (p.Pro7316Arg) c.21572C>G (p.Pro7191Arg) c.48767C>G (p.Pro16256Arg) c.43844C>G (p.Pro14615Arg) n.1495G>C c.47864C>G (p.Pro15955Arg) c.21758C>G (p.Pro7253Arg) c.21617C>G (p.Pro7206Arg) c.47660C>G (p.Pro15887Arg) c.43058C>G (p.Pro14353Arg) c.43055C>G (p.Pro14352Arg) c.40097C>G (p.Pro13366Arg) c.21713C>G (p.Pro7238Arg) c.43208C>G (p.Pro14403Arg) c.43205C>G (p.Pro14402Arg) c.42638C>G (p.Pro14213Arg) c.39980C>G (p.Pro13327Arg) c.39899C>G (p.Pro13300Arg) c.21662C>G (p.Pro7221Arg) c.11516C>G (p.Pro3839Arg) | |
| 2 | g.178614747G= | CA1310549495 | TTN,TTN-AS1 | c.41063C= (p.Pro13688=) c.22148C= (p.Pro7383=) c.21947C= (p.Pro7316=) c.21572C= (p.Pro7191=) c.48767C= (p.Pro16256=) c.43844C= (p.Pro14615=) n.1495G= c.47864C= (p.Pro15955=) c.21758C= (p.Pro7253=) c.21617C= (p.Pro7206=) c.47660C= (p.Pro15887=) c.43058C= (p.Pro14353=) c.43055C= (p.Pro14352=) c.40097C= (p.Pro13366=) c.21713C= (p.Pro7238=) c.43208C= (p.Pro14403=) c.43205C= (p.Pro14402=) c.42638C= (p.Pro14213=) c.39980C= (p.Pro13327=) c.39899C= (p.Pro13300=) c.21662C= (p.Pro7221=) c.11516C= (p.Pro3839=) | |
| 2 | g.178614747G>T | CA349608066 | TTN,TTN-AS1 | c.41063C>A (p.Pro13688Gln) c.22148C>A (p.Pro7383Gln) c.21947C>A (p.Pro7316Gln) c.21572C>A (p.Pro7191Gln) c.48767C>A (p.Pro16256Gln) c.43844C>A (p.Pro14615Gln) n.1495G>T c.47864C>A (p.Pro15955Gln) c.21758C>A (p.Pro7253Gln) c.21617C>A (p.Pro7206Gln) c.47660C>A (p.Pro15887Gln) c.43058C>A (p.Pro14353Gln) c.43055C>A (p.Pro14352Gln) c.40097C>A (p.Pro13366Gln) c.21713C>A (p.Pro7238Gln) c.43208C>A (p.Pro14403Gln) c.43205C>A (p.Pro14402Gln) c.42638C>A (p.Pro14213Gln) c.39980C>A (p.Pro13327Gln) c.39899C>A (p.Pro13300Gln) c.21662C>A (p.Pro7221Gln) c.11516C>A (p.Pro3839Gln) | |
| 2 | g.178614750dup | CA2740096139 | TTN,TTN-AS1 | c.41063dup (p.Glu13689ArgfsTer21) c.22148dup (p.Glu7384ArgfsTer21) c.21947dup (p.Glu7317ArgfsTer21) c.21572dup (p.Glu7192ArgfsTer21) c.48767dup (p.Glu16257ArgfsTer21) c.43844dup (p.Glu14616ArgfsTer21) n.1498dup c.47864dup (p.Glu15956ArgfsTer21) c.21758dup (p.Glu7254ArgfsTer21) c.21617dup (p.Glu7207ArgfsTer21) c.47660dup (p.Glu15888ArgfsTer21) c.43058dup (p.Glu14354ArgfsTer21) c.43055dup (p.Glu14353ArgfsTer21) c.40097dup (p.Glu13367ArgfsTer21) c.21713dup (p.Glu7239ArgfsTer21) c.43208dup (p.Glu14404ArgfsTer21) c.43205dup (p.Glu14403ArgfsTer21) c.42638dup (p.Glu14214ArgfsTer21) c.39980dup (p.Glu13328ArgfsTer21) c.39899dup (p.Glu13301ArgfsTer21) c.21662dup (p.Glu7222ArgfsTer21) c.11516dup (p.Glu3840ArgfsTer21) | ClinVar |
| 2 | g.178614748G>A | CA349608070 | TTN,TTN-AS1 | c.41062C>T (p.Pro13688Ser) c.22147C>T (p.Pro7383Ser) c.21946C>T (p.Pro7316Ser) c.21571C>T (p.Pro7191Ser) c.48766C>T (p.Pro16256Ser) c.43843C>T (p.Pro14615Ser) n.1496G>A c.47863C>T (p.Pro15955Ser) c.21757C>T (p.Pro7253Ser) c.21616C>T (p.Pro7206Ser) c.47659C>T (p.Pro15887Ser) c.43057C>T (p.Pro14353Ser) c.43054C>T (p.Pro14352Ser) c.40096C>T (p.Pro13366Ser) c.21712C>T (p.Pro7238Ser) c.43207C>T (p.Pro14403Ser) c.43204C>T (p.Pro14402Ser) c.42637C>T (p.Pro14213Ser) c.39979C>T (p.Pro13327Ser) c.39898C>T (p.Pro13300Ser) c.21661C>T (p.Pro7221Ser) c.11515C>T (p.Pro3839Ser) | |
| 2 | g.178614748G>C | CA349608071 | TTN,TTN-AS1 | c.41062C>G (p.Pro13688Ala) c.22147C>G (p.Pro7383Ala) c.21946C>G (p.Pro7316Ala) c.21571C>G (p.Pro7191Ala) c.48766C>G (p.Pro16256Ala) c.43843C>G (p.Pro14615Ala) n.1496G>C c.47863C>G (p.Pro15955Ala) c.21757C>G (p.Pro7253Ala) c.21616C>G (p.Pro7206Ala) c.47659C>G (p.Pro15887Ala) c.43057C>G (p.Pro14353Ala) c.43054C>G (p.Pro14352Ala) c.40096C>G (p.Pro13366Ala) c.21712C>G (p.Pro7238Ala) c.43207C>G (p.Pro14403Ala) c.43204C>G (p.Pro14402Ala) c.42637C>G (p.Pro14213Ala) c.39979C>G (p.Pro13327Ala) c.39898C>G (p.Pro13300Ala) c.21661C>G (p.Pro7221Ala) c.11515C>G (p.Pro3839Ala) | |
| 2 | g.178614748G= | CA1310549496 | TTN,TTN-AS1 | c.41062C= (p.Pro13688=) c.22147C= (p.Pro7383=) c.21946C= (p.Pro7316=) c.21571C= (p.Pro7191=) c.48766C= (p.Pro16256=) c.43843C= (p.Pro14615=) n.1496G= c.47863C= (p.Pro15955=) c.21757C= (p.Pro7253=) c.21616C= (p.Pro7206=) c.47659C= (p.Pro15887=) c.43057C= (p.Pro14353=) c.43054C= (p.Pro14352=) c.40096C= (p.Pro13366=) c.21712C= (p.Pro7238=) c.43207C= (p.Pro14403=) c.43204C= (p.Pro14402=) c.42637C= (p.Pro14213=) c.39979C= (p.Pro13327=) c.39898C= (p.Pro13300=) c.21661C= (p.Pro7221=) c.11515C= (p.Pro3839=) | |
| 2 | g.178614748G>T | CA309932 | TTN,TTN-AS1 | c.41062C>A (p.Pro13688Thr) c.22147C>A (p.Pro7383Thr) c.21946C>A (p.Pro7316Thr) c.21571C>A (p.Pro7191Thr) c.48766C>A (p.Pro16256Thr) c.43843C>A (p.Pro14615Thr) n.1496G>T c.47863C>A (p.Pro15955Thr) c.21757C>A (p.Pro7253Thr) c.21616C>A (p.Pro7206Thr) c.47659C>A (p.Pro15887Thr) c.43057C>A (p.Pro14353Thr) c.43054C>A (p.Pro14352Thr) c.40096C>A (p.Pro13366Thr) c.21712C>A (p.Pro7238Thr) c.43207C>A (p.Pro14403Thr) c.43204C>A (p.Pro14402Thr) c.42637C>A (p.Pro14213Thr) c.39979C>A (p.Pro13327Thr) c.39898C>A (p.Pro13300Thr) c.21661C>A (p.Pro7221Thr) c.11515C>A (p.Pro3839Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178614749G>A | CA60987761 | TTN,TTN-AS1 | c.41061C>T (p.Ala13687=) c.22146C>T (p.Ala7382=) c.21945C>T (p.Ala7315=) c.21570C>T (p.Ala7190=) c.48765C>T (p.Ala16255=) c.43842C>T (p.Ala14614=) n.1497G>A c.47862C>T (p.Ala15954=) c.21756C>T (p.Ala7252=) c.21615C>T (p.Ala7205=) c.47658C>T (p.Ala15886=) c.43056C>T (p.Ala14352=) c.43053C>T (p.Ala14351=) c.40095C>T (p.Ala13365=) c.21711C>T (p.Ala7237=) c.43206C>T (p.Ala14402=) c.43203C>T (p.Ala14401=) c.42636C>T (p.Ala14212=) c.39978C>T (p.Ala13326=) c.39897C>T (p.Ala13299=) c.21660C>T (p.Ala7220=) c.11514C>T (p.Ala3838=) | ClinVar dbSNP gnomAD v2 |
| 2 | g.178614749G>C | CA430104096 | TTN,TTN-AS1 | c.41061C>G (p.Ala13687=) c.22146C>G (p.Ala7382=) c.21945C>G (p.Ala7315=) c.21570C>G (p.Ala7190=) c.48765C>G (p.Ala16255=) c.43842C>G (p.Ala14614=) n.1497G>C c.47862C>G (p.Ala15954=) c.21756C>G (p.Ala7252=) c.21615C>G (p.Ala7205=) c.47658C>G (p.Ala15886=) c.43056C>G (p.Ala14352=) c.43053C>G (p.Ala14351=) c.40095C>G (p.Ala13365=) c.21711C>G (p.Ala7237=) c.43206C>G (p.Ala14402=) c.43203C>G (p.Ala14401=) c.42636C>G (p.Ala14212=) c.39978C>G (p.Ala13326=) c.39897C>G (p.Ala13299=) c.21660C>G (p.Ala7220=) c.11514C>G (p.Ala3838=) | |
| 2 | g.178614749G= | CA1310549497 | TTN,TTN-AS1 | c.41061C= (p.Ala13687=) c.22146C= (p.Ala7382=) c.21945C= (p.Ala7315=) c.21570C= (p.Ala7190=) c.48765C= (p.Ala16255=) c.43842C= (p.Ala14614=) n.1497G= c.47862C= (p.Ala15954=) c.21756C= (p.Ala7252=) c.21615C= (p.Ala7205=) c.47658C= (p.Ala15886=) c.43056C= (p.Ala14352=) c.43053C= (p.Ala14351=) c.40095C= (p.Ala13365=) c.21711C= (p.Ala7237=) c.43206C= (p.Ala14402=) c.43203C= (p.Ala14401=) c.42636C= (p.Ala14212=) c.39978C= (p.Ala13326=) c.39897C= (p.Ala13299=) c.21660C= (p.Ala7220=) c.11514C= (p.Ala3838=) | |
| 2 | g.178614749G>T | CA430104097 | TTN,TTN-AS1 | c.41061C>A (p.Ala13687=) c.22146C>A (p.Ala7382=) c.21945C>A (p.Ala7315=) c.21570C>A (p.Ala7190=) c.48765C>A (p.Ala16255=) c.43842C>A (p.Ala14614=) n.1497G>T c.47862C>A (p.Ala15954=) c.21756C>A (p.Ala7252=) c.21615C>A (p.Ala7205=) c.47658C>A (p.Ala15886=) c.43056C>A (p.Ala14352=) c.43053C>A (p.Ala14351=) c.40095C>A (p.Ala13365=) c.21711C>A (p.Ala7237=) c.43206C>A (p.Ala14402=) c.43203C>A (p.Ala14401=) c.42636C>A (p.Ala14212=) c.39978C>A (p.Ala13326=) c.39897C>A (p.Ala13299=) c.21660C>A (p.Ala7220=) c.11514C>A (p.Ala3838=) | |
| 2 | g.178614750G>A | CA349608075 | TTN,TTN-AS1 | c.41060C>T (p.Ala13687Val) c.22145C>T (p.Ala7382Val) c.21944C>T (p.Ala7315Val) c.21569C>T (p.Ala7190Val) c.48764C>T (p.Ala16255Val) c.43841C>T (p.Ala14614Val) n.1498G>A c.47861C>T (p.Ala15954Val) c.21755C>T (p.Ala7252Val) c.21614C>T (p.Ala7205Val) c.47657C>T (p.Ala15886Val) c.43055C>T (p.Ala14352Val) c.43052C>T (p.Ala14351Val) c.40094C>T (p.Ala13365Val) c.21710C>T (p.Ala7237Val) c.43205C>T (p.Ala14402Val) c.43202C>T (p.Ala14401Val) c.42635C>T (p.Ala14212Val) c.39977C>T (p.Ala13326Val) c.39896C>T (p.Ala13299Val) c.21659C>T (p.Ala7220Val) c.11513C>T (p.Ala3838Val) | dbSNP |
| 2 | g.178614750G>C | CA349608076 | TTN,TTN-AS1 | c.41060C>G (p.Ala13687Gly) c.22145C>G (p.Ala7382Gly) c.21944C>G (p.Ala7315Gly) c.21569C>G (p.Ala7190Gly) c.48764C>G (p.Ala16255Gly) c.43841C>G (p.Ala14614Gly) n.1498G>C c.47861C>G (p.Ala15954Gly) c.21755C>G (p.Ala7252Gly) c.21614C>G (p.Ala7205Gly) c.47657C>G (p.Ala15886Gly) c.43055C>G (p.Ala14352Gly) c.43052C>G (p.Ala14351Gly) c.40094C>G (p.Ala13365Gly) c.21710C>G (p.Ala7237Gly) c.43205C>G (p.Ala14402Gly) c.43202C>G (p.Ala14401Gly) c.42635C>G (p.Ala14212Gly) c.39977C>G (p.Ala13326Gly) c.39896C>G (p.Ala13299Gly) c.21659C>G (p.Ala7220Gly) c.11513C>G (p.Ala3838Gly) | |
| 2 | g.178614750G= | CA1310549498 | TTN,TTN-AS1 | c.41060C= (p.Ala13687=) c.22145C= (p.Ala7382=) c.21944C= (p.Ala7315=) c.21569C= (p.Ala7190=) c.48764C= (p.Ala16255=) c.43841C= (p.Ala14614=) n.1498G= c.47861C= (p.Ala15954=) c.21755C= (p.Ala7252=) c.21614C= (p.Ala7205=) c.47657C= (p.Ala15886=) c.43055C= (p.Ala14352=) c.43052C= (p.Ala14351=) c.40094C= (p.Ala13365=) c.21710C= (p.Ala7237=) c.43205C= (p.Ala14402=) c.43202C= (p.Ala14401=) c.42635C= (p.Ala14212=) c.39977C= (p.Ala13326=) c.39896C= (p.Ala13299=) c.21659C= (p.Ala7220=) c.11513C= (p.Ala3838=) | |
| 2 | g.178614750G>T | CA349608078 | TTN,TTN-AS1 | c.41060C>A (p.Ala13687Asp) c.22145C>A (p.Ala7382Asp) c.21944C>A (p.Ala7315Asp) c.21569C>A (p.Ala7190Asp) c.48764C>A (p.Ala16255Asp) c.43841C>A (p.Ala14614Asp) n.1498G>T c.47861C>A (p.Ala15954Asp) c.21755C>A (p.Ala7252Asp) c.21614C>A (p.Ala7205Asp) c.47657C>A (p.Ala15886Asp) c.43055C>A (p.Ala14352Asp) c.43052C>A (p.Ala14351Asp) c.40094C>A (p.Ala13365Asp) c.21710C>A (p.Ala7237Asp) c.43205C>A (p.Ala14402Asp) c.43202C>A (p.Ala14401Asp) c.42635C>A (p.Ala14212Asp) c.39977C>A (p.Ala13326Asp) c.39896C>A (p.Ala13299Asp) c.21659C>A (p.Ala7220Asp) c.11513C>A (p.Ala3838Asp) | |
| 2 | g.178614751C>A | CA349608080 | TTN,TTN-AS1 | c.41059G>T (p.Ala13687Ser) c.22144G>T (p.Ala7382Ser) c.21943G>T (p.Ala7315Ser) c.21568G>T (p.Ala7190Ser) c.48763G>T (p.Ala16255Ser) c.43840G>T (p.Ala14614Ser) n.1499C>A c.47860G>T (p.Ala15954Ser) c.21754G>T (p.Ala7252Ser) c.21613G>T (p.Ala7205Ser) c.47656G>T (p.Ala15886Ser) c.43054G>T (p.Ala14352Ser) c.43051G>T (p.Ala14351Ser) c.40093G>T (p.Ala13365Ser) c.21709G>T (p.Ala7237Ser) c.43204G>T (p.Ala14402Ser) c.43201G>T (p.Ala14401Ser) c.42634G>T (p.Ala14212Ser) c.39976G>T (p.Ala13326Ser) c.39895G>T (p.Ala13299Ser) c.21658G>T (p.Ala7220Ser) c.11512G>T (p.Ala3838Ser) | |
| 2 | g.178614751C>G | CA349608082 | TTN,TTN-AS1 | c.41059G>C (p.Ala13687Pro) c.22144G>C (p.Ala7382Pro) c.21943G>C (p.Ala7315Pro) c.21568G>C (p.Ala7190Pro) c.48763G>C (p.Ala16255Pro) c.43840G>C (p.Ala14614Pro) n.1499C>G c.47860G>C (p.Ala15954Pro) c.21754G>C (p.Ala7252Pro) c.21613G>C (p.Ala7205Pro) c.47656G>C (p.Ala15886Pro) c.43054G>C (p.Ala14352Pro) c.43051G>C (p.Ala14351Pro) c.40093G>C (p.Ala13365Pro) c.21709G>C (p.Ala7237Pro) c.43204G>C (p.Ala14402Pro) c.43201G>C (p.Ala14401Pro) c.42634G>C (p.Ala14212Pro) c.39976G>C (p.Ala13326Pro) c.39895G>C (p.Ala13299Pro) c.21658G>C (p.Ala7220Pro) c.11512G>C (p.Ala3838Pro) | |
| 2 | g.178614751C>T | CA349608084 | TTN,TTN-AS1 | c.41059G>A (p.Ala13687Thr) c.22144G>A (p.Ala7382Thr) c.21943G>A (p.Ala7315Thr) c.21568G>A (p.Ala7190Thr) c.48763G>A (p.Ala16255Thr) c.43840G>A (p.Ala14614Thr) n.1499C>T c.47860G>A (p.Ala15954Thr) c.21754G>A (p.Ala7252Thr) c.21613G>A (p.Ala7205Thr) c.47656G>A (p.Ala15886Thr) c.43054G>A (p.Ala14352Thr) c.43051G>A (p.Ala14351Thr) c.40093G>A (p.Ala13365Thr) c.21709G>A (p.Ala7237Thr) c.43204G>A (p.Ala14402Thr) c.43201G>A (p.Ala14401Thr) c.42634G>A (p.Ala14212Thr) c.39976G>A (p.Ala13326Thr) c.39895G>A (p.Ala13299Thr) c.21658G>A (p.Ala7220Thr) c.11512G>A (p.Ala3838Thr) | gnomAD v4 |
| 2 | g.178614752C>A | CA349608086 | TTN,TTN-AS1 | c.41058G>T (p.Glu13686Asp) c.22143G>T (p.Glu7381Asp) c.21942G>T (p.Glu7314Asp) c.21567G>T (p.Glu7189Asp) c.48762G>T (p.Glu16254Asp) c.43839G>T (p.Glu14613Asp) n.1500C>A c.47859G>T (p.Glu15953Asp) c.21753G>T (p.Glu7251Asp) c.21612G>T (p.Glu7204Asp) c.47655G>T (p.Glu15885Asp) c.43053G>T (p.Glu14351Asp) c.43050G>T (p.Glu14350Asp) c.40092G>T (p.Glu13364Asp) c.21708G>T (p.Glu7236Asp) c.43203G>T (p.Glu14401Asp) c.43200G>T (p.Glu14400Asp) c.42633G>T (p.Glu14211Asp) c.39975G>T (p.Glu13325Asp) c.39894G>T (p.Glu13298Asp) c.21657G>T (p.Glu7219Asp) c.11511G>T (p.Glu3837Asp) | |
| 2 | g.178614752C= | CA1310549499 | TTN,TTN-AS1 | c.41058G= (p.Glu13686=) c.22143G= (p.Glu7381=) c.21942G= (p.Glu7314=) c.21567G= (p.Glu7189=) c.48762G= (p.Glu16254=) c.43839G= (p.Glu14613=) n.1500C= c.47859G= (p.Glu15953=) c.21753G= (p.Glu7251=) c.21612G= (p.Glu7204=) c.47655G= (p.Glu15885=) c.43053G= (p.Glu14351=) c.43050G= (p.Glu14350=) c.40092G= (p.Glu13364=) c.21708G= (p.Glu7236=) c.43203G= (p.Glu14401=) c.43200G= (p.Glu14400=) c.42633G= (p.Glu14211=) c.39975G= (p.Glu13325=) c.39894G= (p.Glu13298=) c.21657G= (p.Glu7219=) c.11511G= (p.Glu3837=) | |
| 2 | g.178614752C>G | CA349608087 | TTN,TTN-AS1 | c.41058G>C (p.Glu13686Asp) c.22143G>C (p.Glu7381Asp) c.21942G>C (p.Glu7314Asp) c.21567G>C (p.Glu7189Asp) c.48762G>C (p.Glu16254Asp) c.43839G>C (p.Glu14613Asp) n.1500C>G c.47859G>C (p.Glu15953Asp) c.21753G>C (p.Glu7251Asp) c.21612G>C (p.Glu7204Asp) c.47655G>C (p.Glu15885Asp) c.43053G>C (p.Glu14351Asp) c.43050G>C (p.Glu14350Asp) c.40092G>C (p.Glu13364Asp) c.21708G>C (p.Glu7236Asp) c.43203G>C (p.Glu14401Asp) c.43200G>C (p.Glu14400Asp) c.42633G>C (p.Glu14211Asp) c.39975G>C (p.Glu13325Asp) c.39894G>C (p.Glu13298Asp) c.21657G>C (p.Glu7219Asp) c.11511G>C (p.Glu3837Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178614752C>T | CA430104101 | TTN,TTN-AS1 | c.41058G>A (p.Glu13686=) c.22143G>A (p.Glu7381=) c.21942G>A (p.Glu7314=) c.21567G>A (p.Glu7189=) c.48762G>A (p.Glu16254=) c.43839G>A (p.Glu14613=) n.1500C>T c.47859G>A (p.Glu15953=) c.21753G>A (p.Glu7251=) c.21612G>A (p.Glu7204=) c.47655G>A (p.Glu15885=) c.43053G>A (p.Glu14351=) c.43050G>A (p.Glu14350=) c.40092G>A (p.Glu13364=) c.21708G>A (p.Glu7236=) c.43203G>A (p.Glu14401=) c.43200G>A (p.Glu14400=) c.42633G>A (p.Glu14211=) c.39975G>A (p.Glu13325=) c.39894G>A (p.Glu13298=) c.21657G>A (p.Glu7219=) c.11511G>A (p.Glu3837=) | ClinVar gnomAD v4 |
| 2 | g.178614753T>A | CA349608092 | TTN,TTN-AS1 | c.41057A>T (p.Glu13686Val) c.22142A>T (p.Glu7381Val) c.21941A>T (p.Glu7314Val) c.21566A>T (p.Glu7189Val) c.48761A>T (p.Glu16254Val) c.43838A>T (p.Glu14613Val) n.1501T>A c.47858A>T (p.Glu15953Val) c.21752A>T (p.Glu7251Val) c.21611A>T (p.Glu7204Val) c.47654A>T (p.Glu15885Val) c.43052A>T (p.Glu14351Val) c.43049A>T (p.Glu14350Val) c.40091A>T (p.Glu13364Val) c.21707A>T (p.Glu7236Val) c.43202A>T (p.Glu14401Val) c.43199A>T (p.Glu14400Val) c.42632A>T (p.Glu14211Val) c.39974A>T (p.Glu13325Val) c.39893A>T (p.Glu13298Val) c.21656A>T (p.Glu7219Val) c.11510A>T (p.Glu3837Val) | |
| 2 | g.178614753T>C | CA349608091 | TTN,TTN-AS1 | c.41057A>G (p.Glu13686Gly) c.22142A>G (p.Glu7381Gly) c.21941A>G (p.Glu7314Gly) c.21566A>G (p.Glu7189Gly) c.48761A>G (p.Glu16254Gly) c.43838A>G (p.Glu14613Gly) n.1501T>C c.47858A>G (p.Glu15953Gly) c.21752A>G (p.Glu7251Gly) c.21611A>G (p.Glu7204Gly) c.47654A>G (p.Glu15885Gly) c.43052A>G (p.Glu14351Gly) c.43049A>G (p.Glu14350Gly) c.40091A>G (p.Glu13364Gly) c.21707A>G (p.Glu7236Gly) c.43202A>G (p.Glu14401Gly) c.43199A>G (p.Glu14400Gly) c.42632A>G (p.Glu14211Gly) c.39974A>G (p.Glu13325Gly) c.39893A>G (p.Glu13298Gly) c.21656A>G (p.Glu7219Gly) c.11510A>G (p.Glu3837Gly) | |
| 2 | g.178614753T>G | CA349608089 | TTN,TTN-AS1 | c.41057A>C (p.Glu13686Ala) c.22142A>C (p.Glu7381Ala) c.21941A>C (p.Glu7314Ala) c.21566A>C (p.Glu7189Ala) c.48761A>C (p.Glu16254Ala) c.43838A>C (p.Glu14613Ala) n.1501T>G c.47858A>C (p.Glu15953Ala) c.21752A>C (p.Glu7251Ala) c.21611A>C (p.Glu7204Ala) c.47654A>C (p.Glu15885Ala) c.43052A>C (p.Glu14351Ala) c.43049A>C (p.Glu14350Ala) c.40091A>C (p.Glu13364Ala) c.21707A>C (p.Glu7236Ala) c.43202A>C (p.Glu14401Ala) c.43199A>C (p.Glu14400Ala) c.42632A>C (p.Glu14211Ala) c.39974A>C (p.Glu13325Ala) c.39893A>C (p.Glu13298Ala) c.21656A>C (p.Glu7219Ala) c.11510A>C (p.Glu3837Ala) | |
| 2 | g.178614754C>A | CA349608097 | TTN,TTN-AS1 | c.41057-1G>T (n.41057-1G>T) c.22142-1G>T (n.22142-1G>T) c.21941-1G>T (n.21941-1G>T) c.21566-1G>T (n.21566-1G>T) c.48761-1G>T (n.48761-1G>T) c.43838-1G>T (n.43838-1G>T) n.1502C>A c.47858-1G>T (n.47858-1G>T) c.21752-1G>T (n.21752-1G>T) c.21611-1G>T (n.21611-1G>T) c.47654-1G>T (n.47654-1G>T) c.43052-1G>T (n.43052-1G>T) c.43049-1G>T (n.43049-1G>T) c.40091-1G>T (n.40091-1G>T) c.21707-1G>T (n.21707-1G>T) c.43202-1G>T (n.43202-1G>T) c.43199-1G>T (n.43199-1G>T) c.42632-1G>T (n.42632-1G>T) c.39974-1G>T (n.39974-1G>T) c.39893-1G>T (n.39893-1G>T) c.21656-1G>T (n.21656-1G>T) c.11510-1G>T (n.11510-1G>T) | |
| 2 | g.178614754C= | CA1310549500 | TTN,TTN-AS1 | c.41057-1G= (n.41057-1G=) c.22142-1G= (n.22142-1G=) c.21941-1G= (n.21941-1G=) c.21566-1G= (n.21566-1G=) c.48761-1G= (n.48761-1G=) c.43838-1G= (n.43838-1G=) n.1502C= c.47858-1G= (n.47858-1G=) c.21752-1G= (n.21752-1G=) c.21611-1G= (n.21611-1G=) c.47654-1G= (n.47654-1G=) c.43052-1G= (n.43052-1G=) c.43049-1G= (n.43049-1G=) c.40091-1G= (n.40091-1G=) c.21707-1G= (n.21707-1G=) c.43202-1G= (n.43202-1G=) c.43199-1G= (n.43199-1G=) c.42632-1G= (n.42632-1G=) c.39974-1G= (n.39974-1G=) c.39893-1G= (n.39893-1G=) c.21656-1G= (n.21656-1G=) c.11510-1G= (n.11510-1G=) | |
| 2 | g.178614754C>G | CA10576521 | TTN,TTN-AS1 | c.41057-1G>C (n.41057-1G>C) c.22142-1G>C (n.22142-1G>C) c.21941-1G>C (n.21941-1G>C) c.21566-1G>C (n.21566-1G>C) c.48761-1G>C (n.48761-1G>C) c.43838-1G>C (n.43838-1G>C) n.1502C>G c.47858-1G>C (n.47858-1G>C) c.21752-1G>C (n.21752-1G>C) c.21611-1G>C (n.21611-1G>C) c.47654-1G>C (n.47654-1G>C) c.43052-1G>C (n.43052-1G>C) c.43049-1G>C (n.43049-1G>C) c.40091-1G>C (n.40091-1G>C) c.21707-1G>C (n.21707-1G>C) c.43202-1G>C (n.43202-1G>C) c.43199-1G>C (n.43199-1G>C) c.42632-1G>C (n.42632-1G>C) c.39974-1G>C (n.39974-1G>C) c.39893-1G>C (n.39893-1G>C) c.21656-1G>C (n.21656-1G>C) c.11510-1G>C (n.11510-1G>C) | ClinVar dbSNP |
| 2 | g.178614754C>T | CA349608096 | TTN,TTN-AS1 | c.41057-1G>A (n.41057-1G>A) c.22142-1G>A (n.22142-1G>A) c.21941-1G>A (n.21941-1G>A) c.21566-1G>A (n.21566-1G>A) c.48761-1G>A (n.48761-1G>A) c.43838-1G>A (n.43838-1G>A) n.1502C>T c.47858-1G>A (n.47858-1G>A) c.21752-1G>A (n.21752-1G>A) c.21611-1G>A (n.21611-1G>A) c.47654-1G>A (n.47654-1G>A) c.43052-1G>A (n.43052-1G>A) c.43049-1G>A (n.43049-1G>A) c.40091-1G>A (n.40091-1G>A) c.21707-1G>A (n.21707-1G>A) c.43202-1G>A (n.43202-1G>A) c.43199-1G>A (n.43199-1G>A) c.42632-1G>A (n.42632-1G>A) c.39974-1G>A (n.39974-1G>A) c.39893-1G>A (n.39893-1G>A) c.21656-1G>A (n.21656-1G>A) c.11510-1G>A (n.11510-1G>A) | |
| 2 | g.178614755T>A | CA349608099 | TTN,TTN-AS1 | c.41057-2A>T (n.41057-2A>T) c.22142-2A>T (n.22142-2A>T) c.21941-2A>T (n.21941-2A>T) c.21566-2A>T (n.21566-2A>T) c.48761-2A>T (n.48761-2A>T) c.43838-2A>T (n.43838-2A>T) n.1503T>A c.47858-2A>T (n.47858-2A>T) c.21752-2A>T (n.21752-2A>T) c.21611-2A>T (n.21611-2A>T) c.47654-2A>T (n.47654-2A>T) c.43052-2A>T (n.43052-2A>T) c.43049-2A>T (n.43049-2A>T) c.40091-2A>T (n.40091-2A>T) c.21707-2A>T (n.21707-2A>T) c.43202-2A>T (n.43202-2A>T) c.43199-2A>T (n.43199-2A>T) c.42632-2A>T (n.42632-2A>T) c.39974-2A>T (n.39974-2A>T) c.39893-2A>T (n.39893-2A>T) c.21656-2A>T (n.21656-2A>T) c.11510-2A>T (n.11510-2A>T) | |
| 2 | g.178614755T>C | CA349608101 | TTN,TTN-AS1 | c.41057-2A>G (n.41057-2A>G) c.22142-2A>G (n.22142-2A>G) c.21941-2A>G (n.21941-2A>G) c.21566-2A>G (n.21566-2A>G) c.48761-2A>G (n.48761-2A>G) c.43838-2A>G (n.43838-2A>G) n.1503T>C c.47858-2A>G (n.47858-2A>G) c.21752-2A>G (n.21752-2A>G) c.21611-2A>G (n.21611-2A>G) c.47654-2A>G (n.47654-2A>G) c.43052-2A>G (n.43052-2A>G) c.43049-2A>G (n.43049-2A>G) c.40091-2A>G (n.40091-2A>G) c.21707-2A>G (n.21707-2A>G) c.43202-2A>G (n.43202-2A>G) c.43199-2A>G (n.43199-2A>G) c.42632-2A>G (n.42632-2A>G) c.39974-2A>G (n.39974-2A>G) c.39893-2A>G (n.39893-2A>G) c.21656-2A>G (n.21656-2A>G) c.11510-2A>G (n.11510-2A>G) | |
| 2 | g.178614755T>G | CA349608103 | TTN,TTN-AS1 | c.41057-2A>C (n.41057-2A>C) c.22142-2A>C (n.22142-2A>C) c.21941-2A>C (n.21941-2A>C) c.21566-2A>C (n.21566-2A>C) c.48761-2A>C (n.48761-2A>C) c.43838-2A>C (n.43838-2A>C) n.1503T>G c.47858-2A>C (n.47858-2A>C) c.21752-2A>C (n.21752-2A>C) c.21611-2A>C (n.21611-2A>C) c.47654-2A>C (n.47654-2A>C) c.43052-2A>C (n.43052-2A>C) c.43049-2A>C (n.43049-2A>C) c.40091-2A>C (n.40091-2A>C) c.21707-2A>C (n.21707-2A>C) c.43202-2A>C (n.43202-2A>C) c.43199-2A>C (n.43199-2A>C) c.42632-2A>C (n.42632-2A>C) c.39974-2A>C (n.39974-2A>C) c.39893-2A>C (n.39893-2A>C) c.21656-2A>C (n.21656-2A>C) c.11510-2A>C (n.11510-2A>C) | |
| 2 | g.178614756G>A | CA430104105 | TTN,TTN-AS1 | c.41057-3C>T (n.41057-3C>T) c.22142-3C>T (n.22142-3C>T) c.21941-3C>T (n.21941-3C>T) c.21566-3C>T (n.21566-3C>T) c.48761-3C>T (n.48761-3C>T) c.43838-3C>T (n.43838-3C>T) n.1504G>A c.47858-3C>T (n.47858-3C>T) c.21752-3C>T (n.21752-3C>T) c.21611-3C>T (n.21611-3C>T) c.47654-3C>T (n.47654-3C>T) c.43052-3C>T (n.43052-3C>T) c.43049-3C>T (n.43049-3C>T) c.40091-3C>T (n.40091-3C>T) c.21707-3C>T (n.21707-3C>T) c.43202-3C>T (n.43202-3C>T) c.43199-3C>T (n.43199-3C>T) c.42632-3C>T (n.42632-3C>T) c.39974-3C>T (n.39974-3C>T) c.39893-3C>T (n.39893-3C>T) c.21656-3C>T (n.21656-3C>T) c.11510-3C>T (n.11510-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178614756G>C | CA430104107 | TTN,TTN-AS1 | c.41057-3C>G (n.41057-3C>G) c.22142-3C>G (n.22142-3C>G) c.21941-3C>G (n.21941-3C>G) c.21566-3C>G (n.21566-3C>G) c.48761-3C>G (n.48761-3C>G) c.43838-3C>G (n.43838-3C>G) n.1504G>C c.47858-3C>G (n.47858-3C>G) c.21752-3C>G (n.21752-3C>G) c.21611-3C>G (n.21611-3C>G) c.47654-3C>G (n.47654-3C>G) c.43052-3C>G (n.43052-3C>G) c.43049-3C>G (n.43049-3C>G) c.40091-3C>G (n.40091-3C>G) c.21707-3C>G (n.21707-3C>G) c.43202-3C>G (n.43202-3C>G) c.43199-3C>G (n.43199-3C>G) c.42632-3C>G (n.42632-3C>G) c.39974-3C>G (n.39974-3C>G) c.39893-3C>G (n.39893-3C>G) c.21656-3C>G (n.21656-3C>G) c.11510-3C>G (n.11510-3C>G) | gnomAD v4 |
| 2 | g.178614756G= | CA1310549501 | TTN,TTN-AS1 | c.41057-3C= (n.41057-3C=) c.22142-3C= (n.22142-3C=) c.21941-3C= (n.21941-3C=) c.21566-3C= (n.21566-3C=) c.48761-3C= (n.48761-3C=) c.43838-3C= (n.43838-3C=) n.1504G= c.47858-3C= (n.47858-3C=) c.21752-3C= (n.21752-3C=) c.21611-3C= (n.21611-3C=) c.47654-3C= (n.47654-3C=) c.43052-3C= (n.43052-3C=) c.43049-3C= (n.43049-3C=) c.40091-3C= (n.40091-3C=) c.21707-3C= (n.21707-3C=) c.43202-3C= (n.43202-3C=) c.43199-3C= (n.43199-3C=) c.42632-3C= (n.42632-3C=) c.39974-3C= (n.39974-3C=) c.39893-3C= (n.39893-3C=) c.21656-3C= (n.21656-3C=) c.11510-3C= (n.11510-3C=) | |
| 2 | g.178614756G>T | CA430104108 | TTN,TTN-AS1 | c.41057-3C>A (n.41057-3C>A) c.22142-3C>A (n.22142-3C>A) c.21941-3C>A (n.21941-3C>A) c.21566-3C>A (n.21566-3C>A) c.48761-3C>A (n.48761-3C>A) c.43838-3C>A (n.43838-3C>A) n.1504G>T c.47858-3C>A (n.47858-3C>A) c.21752-3C>A (n.21752-3C>A) c.21611-3C>A (n.21611-3C>A) c.47654-3C>A (n.47654-3C>A) c.43052-3C>A (n.43052-3C>A) c.43049-3C>A (n.43049-3C>A) c.40091-3C>A (n.40091-3C>A) c.21707-3C>A (n.21707-3C>A) c.43202-3C>A (n.43202-3C>A) c.43199-3C>A (n.43199-3C>A) c.42632-3C>A (n.42632-3C>A) c.39974-3C>A (n.39974-3C>A) c.39893-3C>A (n.39893-3C>A) c.21656-3C>A (n.21656-3C>A) c.11510-3C>A (n.11510-3C>A) | |
| 2 | g.178614757A>C | CA430104109 | TTN,TTN-AS1 | c.41057-4T>G (n.41057-4T>G) c.22142-4T>G (n.22142-4T>G) c.21941-4T>G (n.21941-4T>G) c.21566-4T>G (n.21566-4T>G) c.48761-4T>G (n.48761-4T>G) c.43838-4T>G (n.43838-4T>G) n.1505A>C c.47858-4T>G (n.47858-4T>G) c.21752-4T>G (n.21752-4T>G) c.21611-4T>G (n.21611-4T>G) c.47654-4T>G (n.47654-4T>G) c.43052-4T>G (n.43052-4T>G) c.43049-4T>G (n.43049-4T>G) c.40091-4T>G (n.40091-4T>G) c.21707-4T>G (n.21707-4T>G) c.43202-4T>G (n.43202-4T>G) c.43199-4T>G (n.43199-4T>G) c.42632-4T>G (n.42632-4T>G) c.39974-4T>G (n.39974-4T>G) c.39893-4T>G (n.39893-4T>G) c.21656-4T>G (n.21656-4T>G) c.11510-4T>G (n.11510-4T>G) | |
| 2 | g.178614757A>G | CA430104110 | TTN,TTN-AS1 | c.41057-4T>C (n.41057-4T>C) c.22142-4T>C (n.22142-4T>C) c.21941-4T>C (n.21941-4T>C) c.21566-4T>C (n.21566-4T>C) c.48761-4T>C (n.48761-4T>C) c.43838-4T>C (n.43838-4T>C) n.1505A>G c.47858-4T>C (n.47858-4T>C) c.21752-4T>C (n.21752-4T>C) c.21611-4T>C (n.21611-4T>C) c.47654-4T>C (n.47654-4T>C) c.43052-4T>C (n.43052-4T>C) c.43049-4T>C (n.43049-4T>C) c.40091-4T>C (n.40091-4T>C) c.21707-4T>C (n.21707-4T>C) c.43202-4T>C (n.43202-4T>C) c.43199-4T>C (n.43199-4T>C) c.42632-4T>C (n.42632-4T>C) c.39974-4T>C (n.39974-4T>C) c.39893-4T>C (n.39893-4T>C) c.21656-4T>C (n.21656-4T>C) c.11510-4T>C (n.11510-4T>C) | |
| 2 | g.178614757A>T | CA430104111 | TTN,TTN-AS1 | c.41057-4T>A (n.41057-4T>A) c.22142-4T>A (n.22142-4T>A) c.21941-4T>A (n.21941-4T>A) c.21566-4T>A (n.21566-4T>A) c.48761-4T>A (n.48761-4T>A) c.43838-4T>A (n.43838-4T>A) n.1505A>T c.47858-4T>A (n.47858-4T>A) c.21752-4T>A (n.21752-4T>A) c.21611-4T>A (n.21611-4T>A) c.47654-4T>A (n.47654-4T>A) c.43052-4T>A (n.43052-4T>A) c.43049-4T>A (n.43049-4T>A) c.40091-4T>A (n.40091-4T>A) c.21707-4T>A (n.21707-4T>A) c.43202-4T>A (n.43202-4T>A) c.43199-4T>A (n.43199-4T>A) c.42632-4T>A (n.42632-4T>A) c.39974-4T>A (n.39974-4T>A) c.39893-4T>A (n.39893-4T>A) c.21656-4T>A (n.21656-4T>A) c.11510-4T>A (n.11510-4T>A) | |
| 2 | g.178614758A>C | CA430104112 | TTN,TTN-AS1 | c.41057-5T>G (n.41057-5T>G) c.22142-5T>G (n.22142-5T>G) c.21941-5T>G (n.21941-5T>G) c.21566-5T>G (n.21566-5T>G) c.48761-5T>G (n.48761-5T>G) c.43838-5T>G (n.43838-5T>G) n.1506A>C c.47858-5T>G (n.47858-5T>G) c.21752-5T>G (n.21752-5T>G) c.21611-5T>G (n.21611-5T>G) c.47654-5T>G (n.47654-5T>G) c.43052-5T>G (n.43052-5T>G) c.43049-5T>G (n.43049-5T>G) c.40091-5T>G (n.40091-5T>G) c.21707-5T>G (n.21707-5T>G) c.43202-5T>G (n.43202-5T>G) c.43199-5T>G (n.43199-5T>G) c.42632-5T>G (n.42632-5T>G) c.39974-5T>G (n.39974-5T>G) c.39893-5T>G (n.39893-5T>G) c.21656-5T>G (n.21656-5T>G) c.11510-5T>G (n.11510-5T>G) |