| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178614531G>A | CA1994713 | TTN,TTN-AS1 | c.41279C>T (p.Thr13760Ile) c.22364C>T (p.Thr7455Ile) c.22163C>T (p.Thr7388Ile) c.21788C>T (p.Thr7263Ile) c.48983C>T (p.Thr16328Ile) c.44060C>T (p.Thr14687Ile) n.1279G>A c.48080C>T (p.Thr16027Ile) c.21974C>T (p.Thr7325Ile) c.21833C>T (p.Thr7278Ile) c.47876C>T (p.Thr15959Ile) c.43274C>T (p.Thr14425Ile) c.43271C>T (p.Thr14424Ile) c.40313C>T (p.Thr13438Ile) c.21929C>T (p.Thr7310Ile) c.43424C>T (p.Thr14475Ile) c.43421C>T (p.Thr14474Ile) c.42854C>T (p.Thr14285Ile) c.40196C>T (p.Thr13399Ile) c.40115C>T (p.Thr13372Ile) c.21878C>T (p.Thr7293Ile) c.11732C>T (p.Thr3911Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178614531G>C | CA349607158 | TTN,TTN-AS1 | c.41279C>G (p.Thr13760Arg) c.22364C>G (p.Thr7455Arg) c.22163C>G (p.Thr7388Arg) c.21788C>G (p.Thr7263Arg) c.48983C>G (p.Thr16328Arg) c.44060C>G (p.Thr14687Arg) n.1279G>C c.48080C>G (p.Thr16027Arg) c.21974C>G (p.Thr7325Arg) c.21833C>G (p.Thr7278Arg) c.47876C>G (p.Thr15959Arg) c.43274C>G (p.Thr14425Arg) c.43271C>G (p.Thr14424Arg) c.40313C>G (p.Thr13438Arg) c.21929C>G (p.Thr7310Arg) c.43424C>G (p.Thr14475Arg) c.43421C>G (p.Thr14474Arg) c.42854C>G (p.Thr14285Arg) c.40196C>G (p.Thr13399Arg) c.40115C>G (p.Thr13372Arg) c.21878C>G (p.Thr7293Arg) c.11732C>G (p.Thr3911Arg) | |
| 2 | g.178614531G= | CA1310549407 | TTN,TTN-AS1 | c.41279C= (p.Thr13760=) c.22364C= (p.Thr7455=) c.22163C= (p.Thr7388=) c.21788C= (p.Thr7263=) c.48983C= (p.Thr16328=) c.44060C= (p.Thr14687=) n.1279G= c.48080C= (p.Thr16027=) c.21974C= (p.Thr7325=) c.21833C= (p.Thr7278=) c.47876C= (p.Thr15959=) c.43274C= (p.Thr14425=) c.43271C= (p.Thr14424=) c.40313C= (p.Thr13438=) c.21929C= (p.Thr7310=) c.43424C= (p.Thr14475=) c.43421C= (p.Thr14474=) c.42854C= (p.Thr14285=) c.40196C= (p.Thr13399=) c.40115C= (p.Thr13372=) c.21878C= (p.Thr7293=) c.11732C= (p.Thr3911=) | |
| 2 | g.178614531G>T | CA349607157 | TTN,TTN-AS1 | c.41279C>A (p.Thr13760Lys) c.22364C>A (p.Thr7455Lys) c.22163C>A (p.Thr7388Lys) c.21788C>A (p.Thr7263Lys) c.48983C>A (p.Thr16328Lys) c.44060C>A (p.Thr14687Lys) n.1279G>T c.48080C>A (p.Thr16027Lys) c.21974C>A (p.Thr7325Lys) c.21833C>A (p.Thr7278Lys) c.47876C>A (p.Thr15959Lys) c.43274C>A (p.Thr14425Lys) c.43271C>A (p.Thr14424Lys) c.40313C>A (p.Thr13438Lys) c.21929C>A (p.Thr7310Lys) c.43424C>A (p.Thr14475Lys) c.43421C>A (p.Thr14474Lys) c.42854C>A (p.Thr14285Lys) c.40196C>A (p.Thr13399Lys) c.40115C>A (p.Thr13372Lys) c.21878C>A (p.Thr7293Lys) c.11732C>A (p.Thr3911Lys) | |
| 2 | g.178614532T>A | CA349607167 | TTN,TTN-AS1 | c.41278A>T (p.Thr13760Ser) c.22363A>T (p.Thr7455Ser) c.22162A>T (p.Thr7388Ser) c.21787A>T (p.Thr7263Ser) c.48982A>T (p.Thr16328Ser) c.44059A>T (p.Thr14687Ser) n.1280T>A c.48079A>T (p.Thr16027Ser) c.21973A>T (p.Thr7325Ser) c.21832A>T (p.Thr7278Ser) c.47875A>T (p.Thr15959Ser) c.43273A>T (p.Thr14425Ser) c.43270A>T (p.Thr14424Ser) c.40312A>T (p.Thr13438Ser) c.21928A>T (p.Thr7310Ser) c.43423A>T (p.Thr14475Ser) c.43420A>T (p.Thr14474Ser) c.42853A>T (p.Thr14285Ser) c.40195A>T (p.Thr13399Ser) c.40114A>T (p.Thr13372Ser) c.21877A>T (p.Thr7293Ser) c.11731A>T (p.Thr3911Ser) | |
| 2 | g.178614532T>C | CA349607169 | TTN,TTN-AS1 | c.41278A>G (p.Thr13760Ala) c.22363A>G (p.Thr7455Ala) c.22162A>G (p.Thr7388Ala) c.21787A>G (p.Thr7263Ala) c.48982A>G (p.Thr16328Ala) c.44059A>G (p.Thr14687Ala) n.1280T>C c.48079A>G (p.Thr16027Ala) c.21973A>G (p.Thr7325Ala) c.21832A>G (p.Thr7278Ala) c.47875A>G (p.Thr15959Ala) c.43273A>G (p.Thr14425Ala) c.43270A>G (p.Thr14424Ala) c.40312A>G (p.Thr13438Ala) c.21928A>G (p.Thr7310Ala) c.43423A>G (p.Thr14475Ala) c.43420A>G (p.Thr14474Ala) c.42853A>G (p.Thr14285Ala) c.40195A>G (p.Thr13399Ala) c.40114A>G (p.Thr13372Ala) c.21877A>G (p.Thr7293Ala) c.11731A>G (p.Thr3911Ala) | dbSNP |
| 2 | g.178614532T>G | CA349607171 | TTN,TTN-AS1 | c.41278A>C (p.Thr13760Pro) c.22363A>C (p.Thr7455Pro) c.22162A>C (p.Thr7388Pro) c.21787A>C (p.Thr7263Pro) c.48982A>C (p.Thr16328Pro) c.44059A>C (p.Thr14687Pro) n.1280T>G c.48079A>C (p.Thr16027Pro) c.21973A>C (p.Thr7325Pro) c.21832A>C (p.Thr7278Pro) c.47875A>C (p.Thr15959Pro) c.43273A>C (p.Thr14425Pro) c.43270A>C (p.Thr14424Pro) c.40312A>C (p.Thr13438Pro) c.21928A>C (p.Thr7310Pro) c.43423A>C (p.Thr14475Pro) c.43420A>C (p.Thr14474Pro) c.42853A>C (p.Thr14285Pro) c.40195A>C (p.Thr13399Pro) c.40114A>C (p.Thr13372Pro) c.21877A>C (p.Thr7293Pro) c.11731A>C (p.Thr3911Pro) | |
| 2 | g.178614532T= | CA1310549408 | TTN,TTN-AS1 | c.41278A= (p.Thr13760=) c.22363A= (p.Thr7455=) c.22162A= (p.Thr7388=) c.21787A= (p.Thr7263=) c.48982A= (p.Thr16328=) c.44059A= (p.Thr14687=) n.1280T= c.48079A= (p.Thr16027=) c.21973A= (p.Thr7325=) c.21832A= (p.Thr7278=) c.47875A= (p.Thr15959=) c.43273A= (p.Thr14425=) c.43270A= (p.Thr14424=) c.40312A= (p.Thr13438=) c.21928A= (p.Thr7310=) c.43423A= (p.Thr14475=) c.43420A= (p.Thr14474=) c.42853A= (p.Thr14285=) c.40195A= (p.Thr13399=) c.40114A= (p.Thr13372=) c.21877A= (p.Thr7293=) c.11731A= (p.Thr3911=) | |
| 2 | g.178614533G>A | CA430273492 | TTN,TTN-AS1 | c.41277C>T (p.Gly13759=) c.22362C>T (p.Gly7454=) c.22161C>T (p.Gly7387=) c.21786C>T (p.Gly7262=) c.48981C>T (p.Gly16327=) c.44058C>T (p.Gly14686=) n.1281G>A c.48078C>T (p.Gly16026=) c.21972C>T (p.Gly7324=) c.21831C>T (p.Gly7277=) c.47874C>T (p.Gly15958=) c.43272C>T (p.Gly14424=) c.43269C>T (p.Gly14423=) c.40311C>T (p.Gly13437=) c.21927C>T (p.Gly7309=) c.43422C>T (p.Gly14474=) c.43419C>T (p.Gly14473=) c.42852C>T (p.Gly14284=) c.40194C>T (p.Gly13398=) c.40113C>T (p.Gly13371=) c.21876C>T (p.Gly7292=) c.11730C>T (p.Gly3910=) | |
| 2 | g.178614533G>C | CA430273494 | TTN,TTN-AS1 | c.41277C>G (p.Gly13759=) c.22362C>G (p.Gly7454=) c.22161C>G (p.Gly7387=) c.21786C>G (p.Gly7262=) c.48981C>G (p.Gly16327=) c.44058C>G (p.Gly14686=) n.1281G>C c.48078C>G (p.Gly16026=) c.21972C>G (p.Gly7324=) c.21831C>G (p.Gly7277=) c.47874C>G (p.Gly15958=) c.43272C>G (p.Gly14424=) c.43269C>G (p.Gly14423=) c.40311C>G (p.Gly13437=) c.21927C>G (p.Gly7309=) c.43422C>G (p.Gly14474=) c.43419C>G (p.Gly14473=) c.42852C>G (p.Gly14284=) c.40194C>G (p.Gly13398=) c.40113C>G (p.Gly13371=) c.21876C>G (p.Gly7292=) c.11730C>G (p.Gly3910=) | |
| 2 | g.178614533G>T | CA430273495 | TTN,TTN-AS1 | c.41277C>A (p.Gly13759=) c.22362C>A (p.Gly7454=) c.22161C>A (p.Gly7387=) c.21786C>A (p.Gly7262=) c.48981C>A (p.Gly16327=) c.44058C>A (p.Gly14686=) n.1281G>T c.48078C>A (p.Gly16026=) c.21972C>A (p.Gly7324=) c.21831C>A (p.Gly7277=) c.47874C>A (p.Gly15958=) c.43272C>A (p.Gly14424=) c.43269C>A (p.Gly14423=) c.40311C>A (p.Gly13437=) c.21927C>A (p.Gly7309=) c.43422C>A (p.Gly14474=) c.43419C>A (p.Gly14473=) c.42852C>A (p.Gly14284=) c.40194C>A (p.Gly13398=) c.40113C>A (p.Gly13371=) c.21876C>A (p.Gly7292=) c.11730C>A (p.Gly3910=) | |
| 2 | g.178614534C>A | CA349607173 | TTN,TTN-AS1 | c.41276G>T (p.Gly13759Val) c.22361G>T (p.Gly7454Val) c.22160G>T (p.Gly7387Val) c.21785G>T (p.Gly7262Val) c.48980G>T (p.Gly16327Val) c.44057G>T (p.Gly14686Val) n.1282C>A c.48077G>T (p.Gly16026Val) c.21971G>T (p.Gly7324Val) c.21830G>T (p.Gly7277Val) c.47873G>T (p.Gly15958Val) c.43271G>T (p.Gly14424Val) c.43268G>T (p.Gly14423Val) c.40310G>T (p.Gly13437Val) c.21926G>T (p.Gly7309Val) c.43421G>T (p.Gly14474Val) c.43418G>T (p.Gly14473Val) c.42851G>T (p.Gly14284Val) c.40193G>T (p.Gly13398Val) c.40112G>T (p.Gly13371Val) c.21875G>T (p.Gly7292Val) c.11729G>T (p.Gly3910Val) | |
| 2 | g.178614534C= | CA1310549409 | TTN,TTN-AS1 | c.41276G= (p.Gly13759=) c.22361G= (p.Gly7454=) c.22160G= (p.Gly7387=) c.21785G= (p.Gly7262=) c.48980G= (p.Gly16327=) c.44057G= (p.Gly14686=) n.1282C= c.48077G= (p.Gly16026=) c.21971G= (p.Gly7324=) c.21830G= (p.Gly7277=) c.47873G= (p.Gly15958=) c.43271G= (p.Gly14424=) c.43268G= (p.Gly14423=) c.40310G= (p.Gly13437=) c.21926G= (p.Gly7309=) c.43421G= (p.Gly14474=) c.43418G= (p.Gly14473=) c.42851G= (p.Gly14284=) c.40193G= (p.Gly13398=) c.40112G= (p.Gly13371=) c.21875G= (p.Gly7292=) c.11729G= (p.Gly3910=) | |
| 2 | g.178614534C>G | CA349607175 | TTN,TTN-AS1 | c.41276G>C (p.Gly13759Ala) c.22361G>C (p.Gly7454Ala) c.22160G>C (p.Gly7387Ala) c.21785G>C (p.Gly7262Ala) c.48980G>C (p.Gly16327Ala) c.44057G>C (p.Gly14686Ala) n.1282C>G c.48077G>C (p.Gly16026Ala) c.21971G>C (p.Gly7324Ala) c.21830G>C (p.Gly7277Ala) c.47873G>C (p.Gly15958Ala) c.43271G>C (p.Gly14424Ala) c.43268G>C (p.Gly14423Ala) c.40310G>C (p.Gly13437Ala) c.21926G>C (p.Gly7309Ala) c.43421G>C (p.Gly14474Ala) c.43418G>C (p.Gly14473Ala) c.42851G>C (p.Gly14284Ala) c.40193G>C (p.Gly13398Ala) c.40112G>C (p.Gly13371Ala) c.21875G>C (p.Gly7292Ala) c.11729G>C (p.Gly3910Ala) | |
| 2 | g.178614534C>T | CA349607177 | TTN,TTN-AS1 | c.41276G>A (p.Gly13759Asp) c.22361G>A (p.Gly7454Asp) c.22160G>A (p.Gly7387Asp) c.21785G>A (p.Gly7262Asp) c.48980G>A (p.Gly16327Asp) c.44057G>A (p.Gly14686Asp) n.1282C>T c.48077G>A (p.Gly16026Asp) c.21971G>A (p.Gly7324Asp) c.21830G>A (p.Gly7277Asp) c.47873G>A (p.Gly15958Asp) c.43271G>A (p.Gly14424Asp) c.43268G>A (p.Gly14423Asp) c.40310G>A (p.Gly13437Asp) c.21926G>A (p.Gly7309Asp) c.43421G>A (p.Gly14474Asp) c.43418G>A (p.Gly14473Asp) c.42851G>A (p.Gly14284Asp) c.40193G>A (p.Gly13398Asp) c.40112G>A (p.Gly13371Asp) c.21875G>A (p.Gly7292Asp) c.11729G>A (p.Gly3910Asp) | dbSNP |
| 2 | g.178614535C>A | CA349607181 | TTN,TTN-AS1 | c.41275G>T (p.Gly13759Cys) c.22360G>T (p.Gly7454Cys) c.22159G>T (p.Gly7387Cys) c.21784G>T (p.Gly7262Cys) c.48979G>T (p.Gly16327Cys) c.44056G>T (p.Gly14686Cys) n.1283C>A c.48076G>T (p.Gly16026Cys) c.21970G>T (p.Gly7324Cys) c.21829G>T (p.Gly7277Cys) c.47872G>T (p.Gly15958Cys) c.43270G>T (p.Gly14424Cys) c.43267G>T (p.Gly14423Cys) c.40309G>T (p.Gly13437Cys) c.21925G>T (p.Gly7309Cys) c.43420G>T (p.Gly14474Cys) c.43417G>T (p.Gly14473Cys) c.42850G>T (p.Gly14284Cys) c.40192G>T (p.Gly13398Cys) c.40111G>T (p.Gly13371Cys) c.21874G>T (p.Gly7292Cys) c.11728G>T (p.Gly3910Cys) | |
| 2 | g.178614535C>G | CA349607182 | TTN,TTN-AS1 | c.41275G>C (p.Gly13759Arg) c.22360G>C (p.Gly7454Arg) c.22159G>C (p.Gly7387Arg) c.21784G>C (p.Gly7262Arg) c.48979G>C (p.Gly16327Arg) c.44056G>C (p.Gly14686Arg) n.1283C>G c.48076G>C (p.Gly16026Arg) c.21970G>C (p.Gly7324Arg) c.21829G>C (p.Gly7277Arg) c.47872G>C (p.Gly15958Arg) c.43270G>C (p.Gly14424Arg) c.43267G>C (p.Gly14423Arg) c.40309G>C (p.Gly13437Arg) c.21925G>C (p.Gly7309Arg) c.43420G>C (p.Gly14474Arg) c.43417G>C (p.Gly14473Arg) c.42850G>C (p.Gly14284Arg) c.40192G>C (p.Gly13398Arg) c.40111G>C (p.Gly13371Arg) c.21874G>C (p.Gly7292Arg) c.11728G>C (p.Gly3910Arg) | |
| 2 | g.178614535C>T | CA349607184 | TTN,TTN-AS1 | c.41275G>A (p.Gly13759Ser) c.22360G>A (p.Gly7454Ser) c.22159G>A (p.Gly7387Ser) c.21784G>A (p.Gly7262Ser) c.48979G>A (p.Gly16327Ser) c.44056G>A (p.Gly14686Ser) n.1283C>T c.48076G>A (p.Gly16026Ser) c.21970G>A (p.Gly7324Ser) c.21829G>A (p.Gly7277Ser) c.47872G>A (p.Gly15958Ser) c.43270G>A (p.Gly14424Ser) c.43267G>A (p.Gly14423Ser) c.40309G>A (p.Gly13437Ser) c.21925G>A (p.Gly7309Ser) c.43420G>A (p.Gly14474Ser) c.43417G>A (p.Gly14473Ser) c.42850G>A (p.Gly14284Ser) c.40192G>A (p.Gly13398Ser) c.40111G>A (p.Gly13371Ser) c.21874G>A (p.Gly7292Ser) c.11728G>A (p.Gly3910Ser) | gnomAD v4 |
| 2 | g.178614536A>C | CA430273501 | TTN,TTN-AS1 | c.41274T>G (p.Thr13758=) c.22359T>G (p.Thr7453=) c.22158T>G (p.Thr7386=) c.21783T>G (p.Thr7261=) c.48978T>G (p.Thr16326=) c.44055T>G (p.Thr14685=) n.1284A>C c.48075T>G (p.Thr16025=) c.21969T>G (p.Thr7323=) c.21828T>G (p.Thr7276=) c.47871T>G (p.Thr15957=) c.43269T>G (p.Thr14423=) c.43266T>G (p.Thr14422=) c.40308T>G (p.Thr13436=) c.21924T>G (p.Thr7308=) c.43419T>G (p.Thr14473=) c.43416T>G (p.Thr14472=) c.42849T>G (p.Thr14283=) c.40191T>G (p.Thr13397=) c.40110T>G (p.Thr13370=) c.21873T>G (p.Thr7291=) c.11727T>G (p.Thr3909=) | ClinVar |
| 2 | g.178614536A>G | CA430273502 | TTN,TTN-AS1 | c.41274T>C (p.Thr13758=) c.22359T>C (p.Thr7453=) c.22158T>C (p.Thr7386=) c.21783T>C (p.Thr7261=) c.48978T>C (p.Thr16326=) c.44055T>C (p.Thr14685=) n.1284A>G c.48075T>C (p.Thr16025=) c.21969T>C (p.Thr7323=) c.21828T>C (p.Thr7276=) c.47871T>C (p.Thr15957=) c.43269T>C (p.Thr14423=) c.43266T>C (p.Thr14422=) c.40308T>C (p.Thr13436=) c.21924T>C (p.Thr7308=) c.43419T>C (p.Thr14473=) c.43416T>C (p.Thr14472=) c.42849T>C (p.Thr14283=) c.40191T>C (p.Thr13397=) c.40110T>C (p.Thr13370=) c.21873T>C (p.Thr7291=) c.11727T>C (p.Thr3909=) | ClinVar |
| 2 | g.178614536A>T | CA430273504 | TTN,TTN-AS1 | c.41274T>A (p.Thr13758=) c.22359T>A (p.Thr7453=) c.22158T>A (p.Thr7386=) c.21783T>A (p.Thr7261=) c.48978T>A (p.Thr16326=) c.44055T>A (p.Thr14685=) n.1284A>T c.48075T>A (p.Thr16025=) c.21969T>A (p.Thr7323=) c.21828T>A (p.Thr7276=) c.47871T>A (p.Thr15957=) c.43269T>A (p.Thr14423=) c.43266T>A (p.Thr14422=) c.40308T>A (p.Thr13436=) c.21924T>A (p.Thr7308=) c.43419T>A (p.Thr14473=) c.43416T>A (p.Thr14472=) c.42849T>A (p.Thr14283=) c.40191T>A (p.Thr13397=) c.40110T>A (p.Thr13370=) c.21873T>A (p.Thr7291=) c.11727T>A (p.Thr3909=) | |
| 2 | g.178614537G>A | CA349607187 | TTN,TTN-AS1 | c.41273C>T (p.Thr13758Ile) c.22358C>T (p.Thr7453Ile) c.22157C>T (p.Thr7386Ile) c.21782C>T (p.Thr7261Ile) c.48977C>T (p.Thr16326Ile) c.44054C>T (p.Thr14685Ile) n.1285G>A c.48074C>T (p.Thr16025Ile) c.21968C>T (p.Thr7323Ile) c.21827C>T (p.Thr7276Ile) c.47870C>T (p.Thr15957Ile) c.43268C>T (p.Thr14423Ile) c.43265C>T (p.Thr14422Ile) c.40307C>T (p.Thr13436Ile) c.21923C>T (p.Thr7308Ile) c.43418C>T (p.Thr14473Ile) c.43415C>T (p.Thr14472Ile) c.42848C>T (p.Thr14283Ile) c.40190C>T (p.Thr13397Ile) c.40109C>T (p.Thr13370Ile) c.21872C>T (p.Thr7291Ile) c.11726C>T (p.Thr3909Ile) | |
| 2 | g.178614537G>C | CA349607188 | TTN,TTN-AS1 | c.41273C>G (p.Thr13758Ser) c.22358C>G (p.Thr7453Ser) c.22157C>G (p.Thr7386Ser) c.21782C>G (p.Thr7261Ser) c.48977C>G (p.Thr16326Ser) c.44054C>G (p.Thr14685Ser) n.1285G>C c.48074C>G (p.Thr16025Ser) c.21968C>G (p.Thr7323Ser) c.21827C>G (p.Thr7276Ser) c.47870C>G (p.Thr15957Ser) c.43268C>G (p.Thr14423Ser) c.43265C>G (p.Thr14422Ser) c.40307C>G (p.Thr13436Ser) c.21923C>G (p.Thr7308Ser) c.43418C>G (p.Thr14473Ser) c.43415C>G (p.Thr14472Ser) c.42848C>G (p.Thr14283Ser) c.40190C>G (p.Thr13397Ser) c.40109C>G (p.Thr13370Ser) c.21872C>G (p.Thr7291Ser) c.11726C>G (p.Thr3909Ser) | |
| 2 | g.178614537G>T | CA349607190 | TTN,TTN-AS1 | c.41273C>A (p.Thr13758Asn) c.22358C>A (p.Thr7453Asn) c.22157C>A (p.Thr7386Asn) c.21782C>A (p.Thr7261Asn) c.48977C>A (p.Thr16326Asn) c.44054C>A (p.Thr14685Asn) n.1285G>T c.48074C>A (p.Thr16025Asn) c.21968C>A (p.Thr7323Asn) c.21827C>A (p.Thr7276Asn) c.47870C>A (p.Thr15957Asn) c.43268C>A (p.Thr14423Asn) c.43265C>A (p.Thr14422Asn) c.40307C>A (p.Thr13436Asn) c.21923C>A (p.Thr7308Asn) c.43418C>A (p.Thr14473Asn) c.43415C>A (p.Thr14472Asn) c.42848C>A (p.Thr14283Asn) c.40190C>A (p.Thr13397Asn) c.40109C>A (p.Thr13370Asn) c.21872C>A (p.Thr7291Asn) c.11726C>A (p.Thr3909Asn) | |
| 2 | g.178614538T>A | CA349607197 | TTN,TTN-AS1 | c.41272A>T (p.Thr13758Ser) c.22357A>T (p.Thr7453Ser) c.22156A>T (p.Thr7386Ser) c.21781A>T (p.Thr7261Ser) c.48976A>T (p.Thr16326Ser) c.44053A>T (p.Thr14685Ser) n.1286T>A c.48073A>T (p.Thr16025Ser) c.21967A>T (p.Thr7323Ser) c.21826A>T (p.Thr7276Ser) c.47869A>T (p.Thr15957Ser) c.43267A>T (p.Thr14423Ser) c.43264A>T (p.Thr14422Ser) c.40306A>T (p.Thr13436Ser) c.21922A>T (p.Thr7308Ser) c.43417A>T (p.Thr14473Ser) c.43414A>T (p.Thr14472Ser) c.42847A>T (p.Thr14283Ser) c.40189A>T (p.Thr13397Ser) c.40108A>T (p.Thr13370Ser) c.21871A>T (p.Thr7291Ser) c.11725A>T (p.Thr3909Ser) | |
| 2 | g.178614538T>C | CA349607195 | TTN,TTN-AS1 | c.41272A>G (p.Thr13758Ala) c.22357A>G (p.Thr7453Ala) c.22156A>G (p.Thr7386Ala) c.21781A>G (p.Thr7261Ala) c.48976A>G (p.Thr16326Ala) c.44053A>G (p.Thr14685Ala) n.1286T>C c.48073A>G (p.Thr16025Ala) c.21967A>G (p.Thr7323Ala) c.21826A>G (p.Thr7276Ala) c.47869A>G (p.Thr15957Ala) c.43267A>G (p.Thr14423Ala) c.43264A>G (p.Thr14422Ala) c.40306A>G (p.Thr13436Ala) c.21922A>G (p.Thr7308Ala) c.43417A>G (p.Thr14473Ala) c.43414A>G (p.Thr14472Ala) c.42847A>G (p.Thr14283Ala) c.40189A>G (p.Thr13397Ala) c.40108A>G (p.Thr13370Ala) c.21871A>G (p.Thr7291Ala) c.11725A>G (p.Thr3909Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178614538T>G | CA349607193 | TTN,TTN-AS1 | c.41272A>C (p.Thr13758Pro) c.22357A>C (p.Thr7453Pro) c.22156A>C (p.Thr7386Pro) c.21781A>C (p.Thr7261Pro) c.48976A>C (p.Thr16326Pro) c.44053A>C (p.Thr14685Pro) n.1286T>G c.48073A>C (p.Thr16025Pro) c.21967A>C (p.Thr7323Pro) c.21826A>C (p.Thr7276Pro) c.47869A>C (p.Thr15957Pro) c.43267A>C (p.Thr14423Pro) c.43264A>C (p.Thr14422Pro) c.40306A>C (p.Thr13436Pro) c.21922A>C (p.Thr7308Pro) c.43417A>C (p.Thr14473Pro) c.43414A>C (p.Thr14472Pro) c.42847A>C (p.Thr14283Pro) c.40189A>C (p.Thr13397Pro) c.40108A>C (p.Thr13370Pro) c.21871A>C (p.Thr7291Pro) c.11725A>C (p.Thr3909Pro) | |
| 2 | g.178614538T= | CA1310549410 | TTN,TTN-AS1 | c.41272A= (p.Thr13758=) c.22357A= (p.Thr7453=) c.22156A= (p.Thr7386=) c.21781A= (p.Thr7261=) c.48976A= (p.Thr16326=) c.44053A= (p.Thr14685=) n.1286T= c.48073A= (p.Thr16025=) c.21967A= (p.Thr7323=) c.21826A= (p.Thr7276=) c.47869A= (p.Thr15957=) c.43267A= (p.Thr14423=) c.43264A= (p.Thr14422=) c.40306A= (p.Thr13436=) c.21922A= (p.Thr7308=) c.43417A= (p.Thr14473=) c.43414A= (p.Thr14472=) c.42847A= (p.Thr14283=) c.40189A= (p.Thr13397=) c.40108A= (p.Thr13370=) c.21871A= (p.Thr7291=) c.11725A= (p.Thr3909=) | |
| 2 | g.178614539G>A | CA430273505 | TTN,TTN-AS1 | c.41271C>T (p.Asp13757=) c.22356C>T (p.Asp7452=) c.22155C>T (p.Asp7385=) c.21780C>T (p.Asp7260=) c.48975C>T (p.Asp16325=) c.44052C>T (p.Asp14684=) n.1287G>A c.48072C>T (p.Asp16024=) c.21966C>T (p.Asp7322=) c.21825C>T (p.Asp7275=) c.47868C>T (p.Asp15956=) c.43266C>T (p.Asp14422=) c.43263C>T (p.Asp14421=) c.40305C>T (p.Asp13435=) c.21921C>T (p.Asp7307=) c.43416C>T (p.Asp14472=) c.43413C>T (p.Asp14471=) c.42846C>T (p.Asp14282=) c.40188C>T (p.Asp13396=) c.40107C>T (p.Asp13369=) c.21870C>T (p.Asp7290=) c.11724C>T (p.Asp3908=) | gnomAD v4 |
| 2 | g.178614539G>C | CA349607200 | TTN,TTN-AS1 | c.41271C>G (p.Asp13757Glu) c.22356C>G (p.Asp7452Glu) c.22155C>G (p.Asp7385Glu) c.21780C>G (p.Asp7260Glu) c.48975C>G (p.Asp16325Glu) c.44052C>G (p.Asp14684Glu) n.1287G>C c.48072C>G (p.Asp16024Glu) c.21966C>G (p.Asp7322Glu) c.21825C>G (p.Asp7275Glu) c.47868C>G (p.Asp15956Glu) c.43266C>G (p.Asp14422Glu) c.43263C>G (p.Asp14421Glu) c.40305C>G (p.Asp13435Glu) c.21921C>G (p.Asp7307Glu) c.43416C>G (p.Asp14472Glu) c.43413C>G (p.Asp14471Glu) c.42846C>G (p.Asp14282Glu) c.40188C>G (p.Asp13396Glu) c.40107C>G (p.Asp13369Glu) c.21870C>G (p.Asp7290Glu) c.11724C>G (p.Asp3908Glu) | |
| 2 | g.178614539G>T | CA349607202 | TTN,TTN-AS1 | c.41271C>A (p.Asp13757Glu) c.22356C>A (p.Asp7452Glu) c.22155C>A (p.Asp7385Glu) c.21780C>A (p.Asp7260Glu) c.48975C>A (p.Asp16325Glu) c.44052C>A (p.Asp14684Glu) n.1287G>T c.48072C>A (p.Asp16024Glu) c.21966C>A (p.Asp7322Glu) c.21825C>A (p.Asp7275Glu) c.47868C>A (p.Asp15956Glu) c.43266C>A (p.Asp14422Glu) c.43263C>A (p.Asp14421Glu) c.40305C>A (p.Asp13435Glu) c.21921C>A (p.Asp7307Glu) c.43416C>A (p.Asp14472Glu) c.43413C>A (p.Asp14471Glu) c.42846C>A (p.Asp14282Glu) c.40188C>A (p.Asp13396Glu) c.40107C>A (p.Asp13369Glu) c.21870C>A (p.Asp7290Glu) c.11724C>A (p.Asp3908Glu) | |
| 2 | g.178614540T>A | CA349607204 | TTN,TTN-AS1 | c.41270A>T (p.Asp13757Val) c.22355A>T (p.Asp7452Val) c.22154A>T (p.Asp7385Val) c.21779A>T (p.Asp7260Val) c.48974A>T (p.Asp16325Val) c.44051A>T (p.Asp14684Val) n.1288T>A c.48071A>T (p.Asp16024Val) c.21965A>T (p.Asp7322Val) c.21824A>T (p.Asp7275Val) c.47867A>T (p.Asp15956Val) c.43265A>T (p.Asp14422Val) c.43262A>T (p.Asp14421Val) c.40304A>T (p.Asp13435Val) c.21920A>T (p.Asp7307Val) c.43415A>T (p.Asp14472Val) c.43412A>T (p.Asp14471Val) c.42845A>T (p.Asp14282Val) c.40187A>T (p.Asp13396Val) c.40106A>T (p.Asp13369Val) c.21869A>T (p.Asp7290Val) c.11723A>T (p.Asp3908Val) | |
| 2 | g.178614540T>C | CA349607206 | TTN,TTN-AS1 | c.41270A>G (p.Asp13757Gly) c.22355A>G (p.Asp7452Gly) c.22154A>G (p.Asp7385Gly) c.21779A>G (p.Asp7260Gly) c.48974A>G (p.Asp16325Gly) c.44051A>G (p.Asp14684Gly) n.1288T>C c.48071A>G (p.Asp16024Gly) c.21965A>G (p.Asp7322Gly) c.21824A>G (p.Asp7275Gly) c.47867A>G (p.Asp15956Gly) c.43265A>G (p.Asp14422Gly) c.43262A>G (p.Asp14421Gly) c.40304A>G (p.Asp13435Gly) c.21920A>G (p.Asp7307Gly) c.43415A>G (p.Asp14472Gly) c.43412A>G (p.Asp14471Gly) c.42845A>G (p.Asp14282Gly) c.40187A>G (p.Asp13396Gly) c.40106A>G (p.Asp13369Gly) c.21869A>G (p.Asp7290Gly) c.11723A>G (p.Asp3908Gly) | |
| 2 | g.178614540T>G | CA349607208 | TTN,TTN-AS1 | c.41270A>C (p.Asp13757Ala) c.22355A>C (p.Asp7452Ala) c.22154A>C (p.Asp7385Ala) c.21779A>C (p.Asp7260Ala) c.48974A>C (p.Asp16325Ala) c.44051A>C (p.Asp14684Ala) n.1288T>G c.48071A>C (p.Asp16024Ala) c.21965A>C (p.Asp7322Ala) c.21824A>C (p.Asp7275Ala) c.47867A>C (p.Asp15956Ala) c.43265A>C (p.Asp14422Ala) c.43262A>C (p.Asp14421Ala) c.40304A>C (p.Asp13435Ala) c.21920A>C (p.Asp7307Ala) c.43415A>C (p.Asp14472Ala) c.43412A>C (p.Asp14471Ala) c.42845A>C (p.Asp14282Ala) c.40187A>C (p.Asp13396Ala) c.40106A>C (p.Asp13369Ala) c.21869A>C (p.Asp7290Ala) c.11723A>C (p.Asp3908Ala) | |
| 2 | g.178614541C>A | CA349607214 | TTN,TTN-AS1 | c.41269G>T (p.Asp13757Tyr) c.22354G>T (p.Asp7452Tyr) c.22153G>T (p.Asp7385Tyr) c.21778G>T (p.Asp7260Tyr) c.48973G>T (p.Asp16325Tyr) c.44050G>T (p.Asp14684Tyr) n.1289C>A c.48070G>T (p.Asp16024Tyr) c.21964G>T (p.Asp7322Tyr) c.21823G>T (p.Asp7275Tyr) c.47866G>T (p.Asp15956Tyr) c.43264G>T (p.Asp14422Tyr) c.43261G>T (p.Asp14421Tyr) c.40303G>T (p.Asp13435Tyr) c.21919G>T (p.Asp7307Tyr) c.43414G>T (p.Asp14472Tyr) c.43411G>T (p.Asp14471Tyr) c.42844G>T (p.Asp14282Tyr) c.40186G>T (p.Asp13396Tyr) c.40105G>T (p.Asp13369Tyr) c.21868G>T (p.Asp7290Tyr) c.11722G>T (p.Asp3908Tyr) | |
| 2 | g.178614541C>G | CA349607213 | TTN,TTN-AS1 | c.41269G>C (p.Asp13757His) c.22354G>C (p.Asp7452His) c.22153G>C (p.Asp7385His) c.21778G>C (p.Asp7260His) c.48973G>C (p.Asp16325His) c.44050G>C (p.Asp14684His) n.1289C>G c.48070G>C (p.Asp16024His) c.21964G>C (p.Asp7322His) c.21823G>C (p.Asp7275His) c.47866G>C (p.Asp15956His) c.43264G>C (p.Asp14422His) c.43261G>C (p.Asp14421His) c.40303G>C (p.Asp13435His) c.21919G>C (p.Asp7307His) c.43414G>C (p.Asp14472His) c.43411G>C (p.Asp14471His) c.42844G>C (p.Asp14282His) c.40186G>C (p.Asp13396His) c.40105G>C (p.Asp13369His) c.21868G>C (p.Asp7290His) c.11722G>C (p.Asp3908His) | |
| 2 | g.178614541C>T | CA349607211 | TTN,TTN-AS1 | c.41269G>A (p.Asp13757Asn) c.22354G>A (p.Asp7452Asn) c.22153G>A (p.Asp7385Asn) c.21778G>A (p.Asp7260Asn) c.48973G>A (p.Asp16325Asn) c.44050G>A (p.Asp14684Asn) n.1289C>T c.48070G>A (p.Asp16024Asn) c.21964G>A (p.Asp7322Asn) c.21823G>A (p.Asp7275Asn) c.47866G>A (p.Asp15956Asn) c.43264G>A (p.Asp14422Asn) c.43261G>A (p.Asp14421Asn) c.40303G>A (p.Asp13435Asn) c.21919G>A (p.Asp7307Asn) c.43414G>A (p.Asp14472Asn) c.43411G>A (p.Asp14471Asn) c.42844G>A (p.Asp14282Asn) c.40186G>A (p.Asp13396Asn) c.40105G>A (p.Asp13369Asn) c.21868G>A (p.Asp7290Asn) c.11722G>A (p.Asp3908Asn) | |
| 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) |