Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178526932T>C | CA761281392 | TTN,TTN-AS1 | c.*80A>G (n.*80A>G) n.446+3296T>C n.219+3296T>C | dbSNP gnomAD v4 |
2 | g.178526932T= | CA1310514226 | TTN,TTN-AS1 | c.*80A= (n.*80A=) n.446+3296T= n.219+3296T= | |
2 | g.178526933A>T | CA2577170114 | TTN,TTN-AS1 | c.*79T>A (n.*79T>A) n.446+3297A>T n.219+3297A>T | gnomAD v4 |
2 | g.178526933_178526936del | CA2753331008 | TTN,TTN-AS1 | c.*76_*79del (n.*76_*79del) n.446+3297_446+3300del n.219+3297_219+3300del | |
2 | g.178526934C>A | CA2662121327 | TTN,TTN-AS1 | c.*78G>T (n.*78G>T) n.446+3298C>A n.219+3298C>A | gnomAD v4 |
2 | g.178526934C>G | CA2662121330 | TTN,TTN-AS1 | c.*78G>C (n.*78G>C) n.446+3298C>G n.219+3298C>G | gnomAD v4 |
2 | g.178526934C>T | CA2577170115 | TTN,TTN-AS1 | c.*78G>A (n.*78G>A) n.446+3298C>T n.219+3298C>T | gnomAD v4 |
2 | g.178526935A>G | CA2662121332 | TTN,TTN-AS1 | c.*77T>C (n.*77T>C) n.446+3299A>G n.219+3299A>G | gnomAD v4 |
2 | g.178526936G>A | CA2662121334 | TTN,TTN-AS1 | c.*76C>T (n.*76C>T) n.446+3300G>A n.219+3300G>A | gnomAD v4 |
2 | g.178526936G>T | CA2662121337 | TTN,TTN-AS1 | c.*76C>A (n.*76C>A) n.446+3300G>T n.219+3300G>T | gnomAD v4 |
2 | g.178526937T>A | CA2662121338 | TTN,TTN-AS1 | c.*75A>T (n.*75A>T) n.446+3301T>A n.219+3301T>A | dbSNP gnomAD v4 |
2 | g.178526937T>G | CA2662121339 | TTN,TTN-AS1 | c.*75A>C (n.*75A>C) n.446+3301T>G n.219+3301T>G | gnomAD v4 |
2 | g.178526938T>G | CA2753331009 | TTN,TTN-AS1 | c.*74A>C (n.*74A>C) n.446+3302T>G n.219+3302T>G | |
2 | g.178526939C>A | CA2662121340 | TTN,TTN-AS1 | c.*73G>T (n.*73G>T) n.446+3303C>A n.219+3303C>A | gnomAD v4 |
2 | g.178526939C>T | CA2662121341 | TTN,TTN-AS1 | c.*73G>A (n.*73G>A) n.446+3303C>T n.219+3303C>T | gnomAD v4 |
2 | g.178526939_178526946del | CA2753331010 | TTN,TTN-AS1 | c.*66_*73del (n.*66_*73del) n.446+3303_446+3310del n.219+3303_219+3310del | |
2 | g.178526943_178526946del | CA2662121344 | TTN,TTN-AS1 | c.*69_*72del (n.*69_*72del) n.446+3307_446+3310del n.219+3307_219+3310del | gnomAD v4 |
2 | g.178526940_178526947dup | CA2701300868 | TTN,TTN-AS1 | c.*65_*72dup (n.*65_*72dup) n.446+3304_446+3311dup n.219+3304_219+3311dup | dbSNP |
2 | g.178526941G>A | CA761281394 | TTN,TTN-AS1 | c.*71C>T (n.*71C>T) n.446+3305G>A n.219+3305G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178526941G= | CA1310514227 | TTN,TTN-AS1 | c.*71C= (n.*71C=) n.446+3305G= n.219+3305G= | |
2 | g.178526941G>T | CA2662121352 | TTN,TTN-AS1 | c.*71C>A (n.*71C>A) n.446+3305G>T n.219+3305G>T | gnomAD v4 |
2 | g.178526942A= | CA1310514228 | TTN,TTN-AS1 | c.*70T= (n.*70T=) n.446+3306A= n.219+3306A= | |
2 | g.178526942A>C | CA2662121353 | TTN,TTN-AS1 | c.*70T>G (n.*70T>G) n.446+3306A>C n.219+3306A>C | gnomAD v4 |
2 | g.178526942A>G | CA761281396 | TTN,TTN-AS1 | c.*70T>C (n.*70T>C) n.446+3306A>G n.219+3306A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178526944A>G | CA2662121355 | TTN,TTN-AS1 | c.*68T>C (n.*68T>C) n.446+3308A>G n.219+3308A>G | gnomAD v4 |
2 | g.178526945G>A | CA2662121357 | TTN,TTN-AS1 | c.*67C>T (n.*67C>T) n.446+3309G>A n.219+3309G>A | gnomAD v4 |
2 | g.178526945G= | CA1310514229 | TTN,TTN-AS1 | c.*67C= (n.*67C=) n.446+3309G= n.219+3309G= | |
2 | g.178526945G>T | CA2662121359 | TTN,TTN-AS1 | c.*67C>A (n.*67C>A) n.446+3309G>T n.219+3309G>T | gnomAD v4 |
2 | g.178526946_178526947dup | CA1310514230 | TTN,TTN-AS1 | c.*65_*66dup (n.*65_*66dup) n.446+3310_446+3311dup n.219+3310_219+3311dup | dbSNP |
2 | g.178526947T>C | CA60948474 | TTN,TTN-AS1 | c.*65A>G (n.*65A>G) n.446+3311T>C n.219+3311T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178526947T= | CA1310514231 | TTN,TTN-AS1 | c.*65A= (n.*65A=) n.446+3311T= n.219+3311T= | |
2 | g.178526948T>A | CA2662121360 | TTN,TTN-AS1 | c.*64A>T (n.*64A>T) n.446+3312T>A n.219+3312T>A | gnomAD v4 |
2 | g.178526948T>C | CA2662121363 | TTN,TTN-AS1 | c.*64A>G (n.*64A>G) n.446+3312T>C n.219+3312T>C | gnomAD v4 |
2 | g.178526948T>G | CA60948475 | TTN,TTN-AS1 | c.*64A>C (n.*64A>C) n.446+3312T>G n.219+3312T>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178526948T= | CA1310514232 | TTN,TTN-AS1 | c.*64A= (n.*64A=) n.446+3312T= n.219+3312T= | |
2 | g.178526949A= | CA1310514233 | TTN,TTN-AS1 | c.*63T= (n.*63T=) n.446+3313A= n.219+3313A= | |
2 | g.178526949A>C | CA1039711018 | TTN,TTN-AS1 | c.*63T>G (n.*63T>G) n.446+3313A>C n.219+3313A>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178526949A>G | CA761281398 | TTN,TTN-AS1 | c.*63T>C (n.*63T>C) n.446+3313A>G n.219+3313A>G | dbSNP |
2 | g.178526950G>A | CA1310514235 | TTN,TTN-AS1 | c.*62C>T (n.*62C>T) n.446+3314G>A n.219+3314G>A | dbSNP gnomAD v4 |
2 | g.178526950G= | CA1310514234 | TTN,TTN-AS1 | c.*62C= (n.*62C=) n.446+3314G= n.219+3314G= | |
2 | g.178526950G>T | CA2662121365 | TTN,TTN-AS1 | c.*62C>A (n.*62C>A) n.446+3314G>T n.219+3314G>T | gnomAD v4 |
2 | g.178526951T>A | CA2662121368 | TTN,TTN-AS1 | c.*61A>T (n.*61A>T) n.446+3315T>A n.219+3315T>A | gnomAD v4 |
2 | g.178526952C>A | CA2662121371 | TTN,TTN-AS1 | c.*60G>T (n.*60G>T) n.446+3316C>A n.219+3316C>A | gnomAD v4 |
2 | g.178526952C= | CA1310514236 | TTN,TTN-AS1 | c.*60G= (n.*60G=) n.446+3316C= n.219+3316C= | |
2 | g.178526952C>T | CA60948481 | TTN,TTN-AS1 | c.*60G>A (n.*60G>A) n.446+3316C>T n.219+3316C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178526953C>A | CA2581819899 | TTN,TTN-AS1 | c.*59G>T (n.*59G>T) n.446+3317C>A n.219+3317C>A | gnomAD v4 |
2 | g.178526953C= | CA1310514237 | TTN,TTN-AS1 | c.*59G= (n.*59G=) n.446+3317C= n.219+3317C= | |
2 | g.178526953C>G | CA1039711020 | TTN,TTN-AS1 | c.*59G>C (n.*59G>C) n.446+3317C>G n.219+3317C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178526953C>T | CA10612995 | TTN,TTN-AS1 | c.*59G>A (n.*59G>A) n.446+3317C>T n.219+3317C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178526954G>A | CA60948482 | TTN,TTN-AS1 | c.*58C>T (n.*58C>T) n.446+3318G>A n.219+3318G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178526954G>C | CA2662121378 | TTN,TTN-AS1 | c.*58C>G (n.*58C>G) n.446+3318G>C n.219+3318G>C | gnomAD v4 |
2 | g.178526954G= | CA1310514238 | TTN,TTN-AS1 | c.*58C= (n.*58C=) n.446+3318G= n.219+3318G= | |
2 | g.178526954G>T | CA2662121382 | TTN,TTN-AS1 | c.*58C>A (n.*58C>A) n.446+3318G>T n.219+3318G>T | gnomAD v4 |
2 | g.178526956G>T | CA2662121384 | TTN,TTN-AS1 | c.*56C>A (n.*56C>A) n.446+3320G>T n.219+3320G>T | gnomAD v4 |
2 | g.178526957T>C | CA2662121385 | TTN,TTN-AS1 | c.*55A>G (n.*55A>G) n.446+3321T>C n.219+3321T>C | gnomAD v4 |
2 | g.178526958G>A | CA2662121386 | TTN,TTN-AS1 | c.*54C>T (n.*54C>T) n.446+3322G>A n.219+3322G>A | gnomAD v4 |
2 | g.178526958G>T | CA2662121388 | TTN,TTN-AS1 | c.*54C>A (n.*54C>A) n.446+3322G>T n.219+3322G>T | gnomAD v4 |
2 | g.178526959A>T | CA2662121391 | TTN,TTN-AS1 | c.*53T>A (n.*53T>A) n.446+3323A>T n.219+3323A>T | gnomAD v4 |
2 | g.178526961A= | CA1310514239 | TTN,TTN-AS1 | c.*51T= (n.*51T=) n.446+3325A= n.219+3325A= | |
2 | g.178526961A>C | CA761281403 | TTN,TTN-AS1 | c.*51T>G (n.*51T>G) n.446+3325A>C n.219+3325A>C | dbSNP |
2 | g.178526961A>G | CA2662121393 | TTN,TTN-AS1 | c.*51T>C (n.*51T>C) n.446+3325A>G n.219+3325A>G | gnomAD v4 |
2 | g.178526961A>T | CA2701048225 | TTN,TTN-AS1 | c.*51T>A (n.*51T>A) n.446+3325A>T n.219+3325A>T | dbSNP |
2 | g.178526962C>A | CA2662121395 | TTN,TTN-AS1 | c.*50G>T (n.*50G>T) n.446+3326C>A n.219+3326C>A | gnomAD v4 |
2 | g.178526962C= | CA1310514240 | TTN,TTN-AS1 | c.*50G= (n.*50G=) n.446+3326C= n.219+3326C= | |
2 | g.178526962C>T | CA1984838 | TTN,TTN-AS1 | c.*50G>A (n.*50G>A) n.446+3326C>T n.219+3326C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178526963G>A | CA1984839 | TTN,TTN-AS1 | c.*49C>T (n.*49C>T) n.446+3327G>A n.219+3327G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178526963G= | CA1310514241 | TTN,TTN-AS1 | c.*49C= (n.*49C=) n.446+3327G= n.219+3327G= | |
2 | g.178526963G>T | CA2662121398 | TTN,TTN-AS1 | c.*49C>A (n.*49C>A) n.446+3327G>T n.219+3327G>T | gnomAD v4 |
2 | g.178526965T>C | CA1310514243 | TTN,TTN-AS1 | c.*47A>G (n.*47A>G) n.446+3329T>C n.219+3329T>C | dbSNP |
2 | g.178526965T= | CA1310514242 | TTN,TTN-AS1 | c.*47A= (n.*47A=) n.446+3329T= n.219+3329T= | |
2 | g.178526967G>T | CA2662121399 | TTN,TTN-AS1 | c.*45C>A (n.*45C>A) n.446+3331G>T n.219+3331G>T | gnomAD v4 |
2 | g.178526968C>A | CA2662121401 | TTN,TTN-AS1 | c.*44G>T (n.*44G>T) n.446+3332C>A n.219+3332C>A | gnomAD v4 |
2 | g.178526968C= | CA1310514244 | TTN,TTN-AS1 | c.*44G= (n.*44G=) n.446+3332C= n.219+3332C= | |
2 | g.178526968C>G | CA1984841 | TTN,TTN-AS1 | c.*44G>C (n.*44G>C) n.446+3332C>G n.219+3332C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178526968C>T | CA1984840 | TTN,TTN-AS1 | c.*44G>A (n.*44G>A) n.446+3332C>T n.219+3332C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178526968_178526969insTAGT | CA2529114233 | TTN,TTN-AS1 | c.*43_*44insACTA (n.*43_*44insACTA) n.446+3332_446+3333insTAGT n.219+3332_219+3333insTAGT | |
2 | g.178526969G>A | CA1984842 | TTN,TTN-AS1 | c.*43C>T (n.*43C>T) n.446+3333G>A n.219+3333G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178526969G= | CA1310514245 | TTN,TTN-AS1 | c.*43C= (n.*43C=) n.446+3333G= n.219+3333G= | |
2 | g.178526969G>T | CA2662121406 | TTN,TTN-AS1 | c.*43C>A (n.*43C>A) n.446+3333G>T n.219+3333G>T | gnomAD v4 |
2 | g.178526970A>T | CA2701300875 | TTN,TTN-AS1 | c.*42T>A (n.*42T>A) n.446+3334A>T n.219+3334A>T | dbSNP |
2 | g.178526971A>C | CA2511397800 | TTN,TTN-AS1 | c.*41T>G (n.*41T>G) n.446+3335A>C n.219+3335A>C | |
2 | g.178526972A>C | CA2662121409 | TTN,TTN-AS1 | c.*40T>G (n.*40T>G) n.446+3336A>C n.219+3336A>C | gnomAD v4 |
2 | g.178526973A>G | CA2701300879 | TTN,TTN-AS1 | c.*39T>C (n.*39T>C) n.446+3337A>G n.219+3337A>G | dbSNP |
2 | g.178526973A>T | CA2523804206 | TTN,TTN-AS1 | c.*39T>A (n.*39T>A) n.446+3337A>T n.219+3337A>T | |
2 | g.178526976dup | CA2662121411 | TTN,TTN-AS1 | c.*37dup (n.*37dup) n.446+3340dup n.219+3340dup | gnomAD v4 |
2 | g.178526976T>C | CA2662121412 | TTN,TTN-AS1 | c.*36A>G (n.*36A>G) n.446+3340T>C n.219+3340T>C | gnomAD v4 |
2 | g.178526979G>C | CA1984843 | TTN,TTN-AS1 | c.*33C>G (n.*33C>G) n.446+3343G>C n.219+3343G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178526979G= | CA1310514246 | TTN,TTN-AS1 | c.*33C= (n.*33C=) n.446+3343G= n.219+3343G= | |
2 | g.178526981A>G | CA2662121414 | TTN,TTN-AS1 | c.*31T>C (n.*31T>C) n.446+3345A>G n.219+3345A>G | gnomAD v4 |
2 | g.178526982T>C | CA2577170120 | TTN,TTN-AS1 | c.*30A>G (n.*30A>G) n.446+3346T>C n.219+3346T>C | gnomAD v4 |
2 | g.178526982T>G | CA1984844 | TTN,TTN-AS1 | c.*30A>C (n.*30A>C) n.446+3346T>G n.219+3346T>G | dbSNP ExAC gnomAD v2 |
2 | g.178526982T= | CA1310514247 | TTN,TTN-AS1 | c.*30A= (n.*30A=) n.446+3346T= n.219+3346T= | |
2 | g.178526983G>T | CA2577170122 | TTN,TTN-AS1 | c.*29C>A (n.*29C>A) n.446+3347G>T n.219+3347G>T | gnomAD v4 |
2 | g.178526984A>G | CA2662121416 | TTN,TTN-AS1 | c.*28T>C (n.*28T>C) n.446+3348A>G n.219+3348A>G | gnomAD v4 |
2 | g.178526985G>A | CA1984845 | TTN,TTN-AS1 | c.*27C>T (n.*27C>T) n.446+3349G>A n.219+3349G>A | dbSNP ExAC gnomAD v2 |
2 | g.178526985G>C | CA2662121417 | TTN,TTN-AS1 | c.*27C>G (n.*27C>G) n.446+3349G>C n.219+3349G>C | gnomAD v4 |
2 | g.178526985G= | CA1310514248 | TTN,TTN-AS1 | c.*27C= (n.*27C=) n.446+3349G= n.219+3349G= | |
2 | g.178526985G>T | CA2662121418 | TTN,TTN-AS1 | c.*27C>A (n.*27C>A) n.446+3349G>T n.219+3349G>T | gnomAD v4 |
2 | g.178526986T>C | CA1984846 | TTN,TTN-AS1 | c.*26A>G (n.*26A>G) n.446+3350T>C n.219+3350T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178526986T>G | CA2662121419 | TTN,TTN-AS1 | c.*26A>C (n.*26A>C) n.446+3350T>G n.219+3350T>G | gnomAD v4 |
2 | g.178526986T= | CA1310514249 | TTN,TTN-AS1 | c.*26A= (n.*26A=) n.446+3350T= n.219+3350T= | |
2 | g.178526987G>A | CA1984847 | TTN,TTN-AS1 | c.*25C>T (n.*25C>T) n.446+3351G>A n.219+3351G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178526987G>C | CA2701020573 | TTN,TTN-AS1 | c.*25C>G (n.*25C>G) n.446+3351G>C n.219+3351G>C | dbSNP |
2 | g.178526987G= | CA1310514250 | TTN,TTN-AS1 | c.*25C= (n.*25C=) n.446+3351G= n.219+3351G= | |
2 | g.178526989del | CA2701300881 | TTN,TTN-AS1 | c.*23del (n.*23del) n.446+3353del n.219+3353del | dbSNP |
2 | g.178526990G>T | CA2662121423 | TTN,TTN-AS1 | c.*22C>A (n.*22C>A) n.446+3354G>T n.219+3354G>T | gnomAD v4 |
2 | g.178526991A= | CA1310514251 | TTN,TTN-AS1 | c.*21T= (n.*21T=) n.446+3355A= n.219+3355A= | |
2 | g.178526991A>G | CA761281414 | TTN,TTN-AS1 | c.*21T>C (n.*21T>C) n.446+3355A>G n.219+3355A>G | dbSNP gnomAD v4 |
2 | g.178526992G>A | CA1984848 | TTN,TTN-AS1 | c.*20C>T (n.*20C>T) n.446+3356G>A n.219+3356G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178526992G= | CA1310514252 | TTN,TTN-AS1 | c.*20C= (n.*20C=) n.446+3356G= n.219+3356G= | |
2 | g.178526993T>C | CA2662121428 | TTN,TTN-AS1 | c.*19A>G (n.*19A>G) n.446+3357T>C n.219+3357T>C | gnomAD v4 |
2 | g.178526994A>G | CA2701300934 | TTN,TTN-AS1 | c.*18T>C (n.*18T>C) n.446+3358A>G n.219+3358A>G | dbSNP |
2 | g.178526996A= | CA1310514253 | TTN,TTN-AS1 | c.*16T= (n.*16T=) n.446+3360A= n.219+3360A= | |
2 | g.178526996A>G | CA1039711022 | TTN,TTN-AS1 | c.*16T>C (n.*16T>C) n.446+3360A>G n.219+3360A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178526997A= | CA1310514254 | TTN,TTN-AS1 | c.*15T= (n.*15T=) n.446+3361A= n.219+3361A= | |
2 | g.178526997A>T | CA1310514255 | TTN,TTN-AS1 | c.*15T>A (n.*15T>A) n.446+3361A>T n.219+3361A>T | dbSNP gnomAD v4 |
2 | g.178526998G>T | CA2531553648 | TTN,TTN-AS1 | c.*14C>A (n.*14C>A) n.446+3362G>T n.219+3362G>T | |
2 | g.178526999G>A | CA2701024526 | TTN,TTN-AS1 | c.*13C>T (n.*13C>T) n.446+3363G>A n.219+3363G>A | dbSNP |
2 | g.178526999G= | CA1310514256 | TTN,TTN-AS1 | c.*13C= (n.*13C=) n.446+3363G= n.219+3363G= | |
2 | g.178526999G>T | CA1984849 | TTN,TTN-AS1 | c.*13C>A (n.*13C>A) n.446+3363G>T n.219+3363G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178527000G>A | CA2662121432 | TTN,TTN-AS1 | c.*12C>T (n.*12C>T) n.446+3364G>A n.219+3364G>A | gnomAD v4 |
2 | g.178527001C= | CA1310514257 | TTN,TTN-AS1 | c.*11G= (n.*11G=) n.446+3365C= n.219+3365C= | |
2 | g.178527001C>T | CA1039711023 | TTN,TTN-AS1 | c.*11G>A (n.*11G>A) n.446+3365C>T n.219+3365C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178527002A= | CA1310514258 | TTN,TTN-AS1 | c.*10T= (n.*10T=) n.446+3366A= n.219+3366A= | |
2 | g.178527002A>G | CA538089810 | TTN,TTN-AS1 | c.*10T>C (n.*10T>C) n.446+3366A>G n.219+3366A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178527002A>T | CA1310514259 | TTN,TTN-AS1 | c.*10T>A (n.*10T>A) n.446+3366A>T n.219+3366A>T | dbSNP |
2 | g.178527003C= | CA1310514260 | TTN,TTN-AS1 | c.*9G= (n.*9G=) n.446+3367C= n.219+3367C= | |
2 | g.178527003C>T | CA1310514261 | TTN,TTN-AS1 | c.*9G>A (n.*9G>A) n.446+3367C>T n.219+3367C>T | dbSNP gnomAD v4 |
2 | g.178527004A= | CA1310514262 | TTN,TTN-AS1 | c.*8T= (n.*8T=) n.446+3368A= n.219+3368A= | |
2 | g.178527004A>C | CA1039711024 | TTN,TTN-AS1 | c.*8T>G (n.*8T>G) n.446+3368A>C n.219+3368A>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178527004A>T | CA2577170129 | TTN,TTN-AS1 | c.*8T>A (n.*8T>A) n.446+3368A>T n.219+3368A>T | |
2 | g.178527005G>A | CA1984850 | TTN,TTN-AS1 | c.*7C>T (n.*7C>T) n.446+3369G>A n.219+3369G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178527005G= | CA1310514263 | TTN,TTN-AS1 | c.*7C= (n.*7C=) n.446+3369G= n.219+3369G= | |
2 | g.178527006G>A | CA538089811 | TTN,TTN-AS1 | c.*6C>T (n.*6C>T) n.446+3370G>A n.219+3370G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178527006G>C | CA2607822199 | TTN,TTN-AS1 | c.*6C>G (n.*6C>G) n.446+3370G>C n.219+3370G>C | dbSNP gnomAD v4 |
2 | g.178527006G= | CA1310514264 | TTN,TTN-AS1 | c.*6C= (n.*6C=) n.446+3370G= n.219+3370G= | |
2 | g.178527006G>T | CA1984851 | TTN,TTN-AS1 | c.*6C>A (n.*6C>A) n.446+3370G>T n.219+3370G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178527007C>A | CA2662121441 | TTN,TTN-AS1 | c.*5G>T (n.*5G>T) n.446+3371C>A n.219+3371C>A | gnomAD v4 |
2 | g.178527007C= | CA1310514265 | TTN,TTN-AS1 | c.*5G= (n.*5G=) n.446+3371C= n.219+3371C= | |
2 | g.178527007C>T | CA761281427 | TTN,TTN-AS1 | c.*5G>A (n.*5G>A) n.446+3371C>T n.219+3371C>T | dbSNP |
2 | g.178527009C= | CA1310514266 | TTN,TTN-AS1 | c.*3G= (n.*3G=) n.446+3373C= n.219+3373C= | |
2 | g.178527009C>G | CA2662121442 | TTN,TTN-AS1 | c.*3G>C (n.*3G>C) n.446+3373C>G n.219+3373C>G | gnomAD v4 |
2 | g.178527009C>T | CA538089813 | TTN,TTN-AS1 | c.*3G>A (n.*3G>A) n.446+3373C>T n.219+3373C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178527011C>A | CA761281428 | TTN,TTN-AS1 | c.*1G>T (n.*1G>T) n.446+3375C>A n.219+3375C>A | dbSNP |
2 | g.178527011C= | CA1310514267 | TTN,TTN-AS1 | c.*1G= (n.*1G=) n.446+3375C= n.219+3375C= | |
2 | g.178527011C>G | CA538089815 | TTN,TTN-AS1 | c.*1G>C (n.*1G>C) n.446+3375C>G n.219+3375C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178527012T>A | CA349398134 | TTN,TTN-AS1 | c.100272A>T (p.Ter33424Tyr) c.81357A>T (p.Ter27119Tyr) c.81156A>T (p.Ter27052Tyr) c.80781A>T (p.Ter26927Tyr) c.107976A>T (p.Ter35992Tyr) c.103053A>T (p.Ter34351Tyr) n.446+3376T>A n.219+3376T>A c.107073A>T (p.Ter35691Tyr) c.80967A>T (p.Ter26989Tyr) c.80826A>T (p.Ter26942Tyr) c.106869A>T (p.Ter35623Tyr) c.102267A>T (p.Ter34089Tyr) c.102264A>T (p.Ter34088Tyr) c.99306A>T (p.Ter33102Tyr) c.80922A>T (p.Ter26974Tyr) c.102417A>T (p.Ter34139Tyr) c.102414A>T (p.Ter34138Tyr) c.101847A>T (p.Ter33949Tyr) c.99189A>T (p.Ter33063Tyr) c.99108A>T (p.Ter33036Tyr) c.80871A>T (p.Ter26957Tyr) c.70725A>T (p.Ter23575Tyr) | |
2 | g.178527012T>C | CA1984852 | TTN,TTN-AS1 | c.100272A>G (p.Ter33424=) c.81357A>G (p.Ter27119=) c.81156A>G (p.Ter27052=) c.80781A>G (p.Ter26927=) c.107976A>G (p.Ter35992=) c.103053A>G (p.Ter34351=) n.446+3376T>C n.219+3376T>C c.107073A>G (p.Ter35691=) c.80967A>G (p.Ter26989=) c.80826A>G (p.Ter26942=) c.106869A>G (p.Ter35623=) c.102267A>G (p.Ter34089=) c.102264A>G (p.Ter34088=) c.99306A>G (p.Ter33102=) c.80922A>G (p.Ter26974=) c.102417A>G (p.Ter34139=) c.102414A>G (p.Ter34138=) c.101847A>G (p.Ter33949=) c.99189A>G (p.Ter33063=) c.99108A>G (p.Ter33036=) c.80871A>G (p.Ter26957=) c.70725A>G (p.Ter23575=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178527012T>G | CA349398135 | TTN,TTN-AS1 | c.100272A>C (p.Ter33424Tyr) c.81357A>C (p.Ter27119Tyr) c.81156A>C (p.Ter27052Tyr) c.80781A>C (p.Ter26927Tyr) c.107976A>C (p.Ter35992Tyr) c.103053A>C (p.Ter34351Tyr) n.446+3376T>G n.219+3376T>G c.107073A>C (p.Ter35691Tyr) c.80967A>C (p.Ter26989Tyr) c.80826A>C (p.Ter26942Tyr) c.106869A>C (p.Ter35623Tyr) c.102267A>C (p.Ter34089Tyr) c.102264A>C (p.Ter34088Tyr) c.99306A>C (p.Ter33102Tyr) c.80922A>C (p.Ter26974Tyr) c.102417A>C (p.Ter34139Tyr) c.102414A>C (p.Ter34138Tyr) c.101847A>C (p.Ter33949Tyr) c.99189A>C (p.Ter33063Tyr) c.99108A>C (p.Ter33036Tyr) c.80871A>C (p.Ter26957Tyr) c.70725A>C (p.Ter23575Tyr) | |
2 | g.178527012T= | CA1310514268 | TTN,TTN-AS1 | c.100272A= (p.Ter33424=) c.81357A= (p.Ter27119=) c.81156A= (p.Ter27052=) c.80781A= (p.Ter26927=) c.107976A= (p.Ter35992=) c.103053A= (p.Ter34351=) n.446+3376T= n.219+3376T= c.107073A= (p.Ter35691=) c.80967A= (p.Ter26989=) c.80826A= (p.Ter26942=) c.106869A= (p.Ter35623=) c.102267A= (p.Ter34089=) c.102264A= (p.Ter34088=) c.99306A= (p.Ter33102=) c.80922A= (p.Ter26974=) c.102417A= (p.Ter34139=) c.102414A= (p.Ter34138=) c.101847A= (p.Ter33949=) c.99189A= (p.Ter33063=) c.99108A= (p.Ter33036=) c.80871A= (p.Ter26957=) c.70725A= (p.Ter23575=) | |
2 | g.178527013T>A | CA349398136 | TTN,TTN-AS1 | c.100271A>T (p.Ter33424Leu) c.81356A>T (p.Ter27119Leu) c.81155A>T (p.Ter27052Leu) c.80780A>T (p.Ter26927Leu) c.107975A>T (p.Ter35992Leu) c.103052A>T (p.Ter34351Leu) n.446+3377T>A n.219+3377T>A c.107072A>T (p.Ter35691Leu) c.80966A>T (p.Ter26989Leu) c.80825A>T (p.Ter26942Leu) c.106868A>T (p.Ter35623Leu) c.102266A>T (p.Ter34089Leu) c.102263A>T (p.Ter34088Leu) c.99305A>T (p.Ter33102Leu) c.80921A>T (p.Ter26974Leu) c.102416A>T (p.Ter34139Leu) c.102413A>T (p.Ter34138Leu) c.101846A>T (p.Ter33949Leu) c.99188A>T (p.Ter33063Leu) c.99107A>T (p.Ter33036Leu) c.80870A>T (p.Ter26957Leu) c.70724A>T (p.Ter23575Leu) | |
2 | g.178527013T>C | CA430091448 | TTN,TTN-AS1 | c.100271A>G (p.Ter33424=) c.81356A>G (p.Ter27119=) c.81155A>G (p.Ter27052=) c.80780A>G (p.Ter26927=) c.107975A>G (p.Ter35992=) c.103052A>G (p.Ter34351=) n.446+3377T>C n.219+3377T>C c.107072A>G (p.Ter35691=) c.80966A>G (p.Ter26989=) c.80825A>G (p.Ter26942=) c.106868A>G (p.Ter35623=) c.102266A>G (p.Ter34089=) c.102263A>G (p.Ter34088=) c.99305A>G (p.Ter33102=) c.80921A>G (p.Ter26974=) c.102416A>G (p.Ter34139=) c.102413A>G (p.Ter34138=) c.101846A>G (p.Ter33949=) c.99188A>G (p.Ter33063=) c.99107A>G (p.Ter33036=) c.80870A>G (p.Ter26957=) c.70724A>G (p.Ter23575=) | ClinVar dbSNP |
2 | g.178527013T>G | CA349398137 | TTN,TTN-AS1 | c.100271A>C (p.Ter33424Ser) c.81356A>C (p.Ter27119Ser) c.81155A>C (p.Ter27052Ser) c.80780A>C (p.Ter26927Ser) c.107975A>C (p.Ter35992Ser) c.103052A>C (p.Ter34351Ser) n.446+3377T>G n.219+3377T>G c.107072A>C (p.Ter35691Ser) c.80966A>C (p.Ter26989Ser) c.80825A>C (p.Ter26942Ser) c.106868A>C (p.Ter35623Ser) c.102266A>C (p.Ter34089Ser) c.102263A>C (p.Ter34088Ser) c.99305A>C (p.Ter33102Ser) c.80921A>C (p.Ter26974Ser) c.102416A>C (p.Ter34139Ser) c.102413A>C (p.Ter34138Ser) c.101846A>C (p.Ter33949Ser) c.99188A>C (p.Ter33063Ser) c.99107A>C (p.Ter33036Ser) c.80870A>C (p.Ter26957Ser) c.70724A>C (p.Ter23575Ser) | |
2 | g.178527014A= | CA1310514269 | TTN,TTN-AS1 | c.100270T= (p.Ter33424=) c.81355T= (p.Ter27119=) c.81154T= (p.Ter27052=) c.80779T= (p.Ter26927=) c.107974T= (p.Ter35992=) c.103051T= (p.Ter34351=) n.446+3378A= n.219+3378A= c.107071T= (p.Ter35691=) c.80965T= (p.Ter26989=) c.80824T= (p.Ter26942=) c.106867T= (p.Ter35623=) c.102265T= (p.Ter34089=) c.102262T= (p.Ter34088=) c.99304T= (p.Ter33102=) c.80920T= (p.Ter26974=) c.102415T= (p.Ter34139=) c.102412T= (p.Ter34138=) c.101845T= (p.Ter33949=) c.99187T= (p.Ter33063=) c.99106T= (p.Ter33036=) c.80869T= (p.Ter26957=) c.70723T= (p.Ter23575=) | |
2 | g.178527014A>C | CA349398138 | TTN,TTN-AS1 | c.100270T>G (p.Ter33424Glu) c.81355T>G (p.Ter27119Glu) c.81154T>G (p.Ter27052Glu) c.80779T>G (p.Ter26927Glu) c.107974T>G (p.Ter35992Glu) c.103051T>G (p.Ter34351Glu) n.446+3378A>C n.219+3378A>C c.107071T>G (p.Ter35691Glu) c.80965T>G (p.Ter26989Glu) c.80824T>G (p.Ter26942Glu) c.106867T>G (p.Ter35623Glu) c.102265T>G (p.Ter34089Glu) c.102262T>G (p.Ter34088Glu) c.99304T>G (p.Ter33102Glu) c.80920T>G (p.Ter26974Glu) c.102415T>G (p.Ter34139Glu) c.102412T>G (p.Ter34138Glu) c.101845T>G (p.Ter33949Glu) c.99187T>G (p.Ter33063Glu) c.99106T>G (p.Ter33036Glu) c.80869T>G (p.Ter26957Glu) c.70723T>G (p.Ter23575Glu) | |
2 | g.178527014A>G | CA349398139 | TTN,TTN-AS1 | c.100270T>C (p.Ter33424Gln) c.81355T>C (p.Ter27119Gln) c.81154T>C (p.Ter27052Gln) c.80779T>C (p.Ter26927Gln) c.107974T>C (p.Ter35992Gln) c.103051T>C (p.Ter34351Gln) n.446+3378A>G n.219+3378A>G c.107071T>C (p.Ter35691Gln) c.80965T>C (p.Ter26989Gln) c.80824T>C (p.Ter26942Gln) c.106867T>C (p.Ter35623Gln) c.102265T>C (p.Ter34089Gln) c.102262T>C (p.Ter34088Gln) c.99304T>C (p.Ter33102Gln) c.80920T>C (p.Ter26974Gln) c.102415T>C (p.Ter34139Gln) c.102412T>C (p.Ter34138Gln) c.101845T>C (p.Ter33949Gln) c.99187T>C (p.Ter33063Gln) c.99106T>C (p.Ter33036Gln) c.80869T>C (p.Ter26957Gln) c.70723T>C (p.Ter23575Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178527014A>T | CA349398140 | TTN,TTN-AS1 | c.100270T>A (p.Ter33424Lys) c.81355T>A (p.Ter27119Lys) c.81154T>A (p.Ter27052Lys) c.80779T>A (p.Ter26927Lys) c.107974T>A (p.Ter35992Lys) c.103051T>A (p.Ter34351Lys) n.446+3378A>T n.219+3378A>T c.107071T>A (p.Ter35691Lys) c.80965T>A (p.Ter26989Lys) c.80824T>A (p.Ter26942Lys) c.106867T>A (p.Ter35623Lys) c.102265T>A (p.Ter34089Lys) c.102262T>A (p.Ter34088Lys) c.99304T>A (p.Ter33102Lys) c.80920T>A (p.Ter26974Lys) c.102415T>A (p.Ter34139Lys) c.102412T>A (p.Ter34138Lys) c.101845T>A (p.Ter33949Lys) c.99187T>A (p.Ter33063Lys) c.99106T>A (p.Ter33036Lys) c.80869T>A (p.Ter26957Lys) c.70723T>A (p.Ter23575Lys) | |
2 | g.178527015A>C | CA349398141 | TTN,TTN-AS1 | c.100269T>G (p.Ile33423Met) c.81354T>G (p.Ile27118Met) c.81153T>G (p.Ile27051Met) c.80778T>G (p.Ile26926Met) c.107973T>G (p.Ile35991Met) c.103050T>G (p.Ile34350Met) n.446+3379A>C n.219+3379A>C c.107070T>G (p.Ile35690Met) c.80964T>G (p.Ile26988Met) c.80823T>G (p.Ile26941Met) c.106866T>G (p.Ile35622Met) c.102264T>G (p.Ile34088Met) c.102261T>G (p.Ile34087Met) c.99303T>G (p.Ile33101Met) c.80919T>G (p.Ile26973Met) c.102414T>G (p.Ile34138Met) c.102411T>G (p.Ile34137Met) c.101844T>G (p.Ile33948Met) c.99186T>G (p.Ile33062Met) c.99105T>G (p.Ile33035Met) c.80868T>G (p.Ile26956Met) c.70722T>G (p.Ile23574Met) | |
2 | g.178527015A>G | CA430091449 | TTN,TTN-AS1 | c.100269T>C (p.Ile33423=) c.81354T>C (p.Ile27118=) c.81153T>C (p.Ile27051=) c.80778T>C (p.Ile26926=) c.107973T>C (p.Ile35991=) c.103050T>C (p.Ile34350=) n.446+3379A>G n.219+3379A>G c.107070T>C (p.Ile35690=) c.80964T>C (p.Ile26988=) c.80823T>C (p.Ile26941=) c.106866T>C (p.Ile35622=) c.102264T>C (p.Ile34088=) c.102261T>C (p.Ile34087=) c.99303T>C (p.Ile33101=) c.80919T>C (p.Ile26973=) c.102414T>C (p.Ile34138=) c.102411T>C (p.Ile34137=) c.101844T>C (p.Ile33948=) c.99186T>C (p.Ile33062=) c.99105T>C (p.Ile33035=) c.80868T>C (p.Ile26956=) c.70722T>C (p.Ile23574=) | |
2 | g.178527015A>T | CA430091450 | TTN,TTN-AS1 | c.100269T>A (p.Ile33423=) c.81354T>A (p.Ile27118=) c.81153T>A (p.Ile27051=) c.80778T>A (p.Ile26926=) c.107973T>A (p.Ile35991=) c.103050T>A (p.Ile34350=) n.446+3379A>T n.219+3379A>T c.107070T>A (p.Ile35690=) c.80964T>A (p.Ile26988=) c.80823T>A (p.Ile26941=) c.106866T>A (p.Ile35622=) c.102264T>A (p.Ile34088=) c.102261T>A (p.Ile34087=) c.99303T>A (p.Ile33101=) c.80919T>A (p.Ile26973=) c.102414T>A (p.Ile34138=) c.102411T>A (p.Ile34137=) c.101844T>A (p.Ile33948=) c.99186T>A (p.Ile33062=) c.99105T>A (p.Ile33035=) c.80868T>A (p.Ile26956=) c.70722T>A (p.Ile23574=) | |
2 | g.178527016A>C | CA349398142 | TTN,TTN-AS1 | c.100268T>G (p.Ile33423Ser) c.81353T>G (p.Ile27118Ser) c.81152T>G (p.Ile27051Ser) c.80777T>G (p.Ile26926Ser) c.107972T>G (p.Ile35991Ser) c.103049T>G (p.Ile34350Ser) n.446+3380A>C n.219+3380A>C c.107069T>G (p.Ile35690Ser) c.80963T>G (p.Ile26988Ser) c.80822T>G (p.Ile26941Ser) c.106865T>G (p.Ile35622Ser) c.102263T>G (p.Ile34088Ser) c.102260T>G (p.Ile34087Ser) c.99302T>G (p.Ile33101Ser) c.80918T>G (p.Ile26973Ser) c.102413T>G (p.Ile34138Ser) c.102410T>G (p.Ile34137Ser) c.101843T>G (p.Ile33948Ser) c.99185T>G (p.Ile33062Ser) c.99104T>G (p.Ile33035Ser) c.80867T>G (p.Ile26956Ser) c.70721T>G (p.Ile23574Ser) | |
2 | g.178527016A>G | CA349398143 | TTN,TTN-AS1 | c.100268T>C (p.Ile33423Thr) c.81353T>C (p.Ile27118Thr) c.81152T>C (p.Ile27051Thr) c.80777T>C (p.Ile26926Thr) c.107972T>C (p.Ile35991Thr) c.103049T>C (p.Ile34350Thr) n.446+3380A>G n.219+3380A>G c.107069T>C (p.Ile35690Thr) c.80963T>C (p.Ile26988Thr) c.80822T>C (p.Ile26941Thr) c.106865T>C (p.Ile35622Thr) c.102263T>C (p.Ile34088Thr) c.102260T>C (p.Ile34087Thr) c.99302T>C (p.Ile33101Thr) c.80918T>C (p.Ile26973Thr) c.102413T>C (p.Ile34138Thr) c.102410T>C (p.Ile34137Thr) c.101843T>C (p.Ile33948Thr) c.99185T>C (p.Ile33062Thr) c.99104T>C (p.Ile33035Thr) c.80867T>C (p.Ile26956Thr) c.70721T>C (p.Ile23574Thr) | |
2 | g.178527016A>T | CA349398144 | TTN,TTN-AS1 | c.100268T>A (p.Ile33423Asn) c.81353T>A (p.Ile27118Asn) c.81152T>A (p.Ile27051Asn) c.80777T>A (p.Ile26926Asn) c.107972T>A (p.Ile35991Asn) c.103049T>A (p.Ile34350Asn) n.446+3380A>T n.219+3380A>T c.107069T>A (p.Ile35690Asn) c.80963T>A (p.Ile26988Asn) c.80822T>A (p.Ile26941Asn) c.106865T>A (p.Ile35622Asn) c.102263T>A (p.Ile34088Asn) c.102260T>A (p.Ile34087Asn) c.99302T>A (p.Ile33101Asn) c.80918T>A (p.Ile26973Asn) c.102413T>A (p.Ile34138Asn) c.102410T>A (p.Ile34137Asn) c.101843T>A (p.Ile33948Asn) c.99185T>A (p.Ile33062Asn) c.99104T>A (p.Ile33035Asn) c.80867T>A (p.Ile26956Asn) c.70721T>A (p.Ile23574Asn) | |
2 | g.178527016_178527017delinsAT | CA1310514270 | TTN,TTN-AS1 | c.100267_100268delinsAT (p.Ile33423=) c.81352_81353delinsAT (p.Ile27118=) c.81151_81152delinsAT (p.Ile27051=) c.80776_80777delinsAT (p.Ile26926=) c.107971_107972delinsAT (p.Ile35991=) c.103048_103049delinsAT (p.Ile34350=) n.446+3380_446+3381delinsAT n.219+3380_219+3381delinsAT c.107068_107069delinsAT (p.Ile35690=) c.80962_80963delinsAT (p.Ile26988=) c.80821_80822delinsAT (p.Ile26941=) c.106864_106865delinsAT (p.Ile35622=) c.102262_102263delinsAT (p.Ile34088=) c.102259_102260delinsAT (p.Ile34087=) c.99301_99302delinsAT (p.Ile33101=) c.80917_80918delinsAT (p.Ile26973=) c.102412_102413delinsAT (p.Ile34138=) c.102409_102410delinsAT (p.Ile34137=) c.101842_101843delinsAT (p.Ile33948=) c.99184_99185delinsAT (p.Ile33062=) c.99103_99104delinsAT (p.Ile33035=) c.80866_80867delinsAT (p.Ile26956=) c.70720_70721delinsAT (p.Ile23574=) | |
2 | g.178527017del | CA237589 | TTN,TTN-AS1 | c.100267del (p.Ile33423PhefsTer14) c.81352del (p.Ile27118PhefsTer?) c.81151del (p.Ile27051PhefsTer?) c.81352del (p.Ile27118PhefsTer14) c.81151del (p.Ile27051PhefsTer14) c.80776del (p.Ile26926PhefsTer14) c.107971del (p.Ile35991PhefsTer14) c.103048del (p.Ile34350PhefsTer14) n.446+3381del n.219+3381del c.107068del (p.Ile35690PhefsTer14) c.80962del (p.Ile26988PhefsTer14) c.80821del (p.Ile26941PhefsTer14) c.106864del (p.Ile35622PhefsTer14) c.102262del (p.Ile34088PhefsTer14) c.102259del (p.Ile34087PhefsTer14) c.99301del (p.Ile33101PhefsTer14) c.80917del (p.Ile26973PhefsTer14) c.102412del (p.Ile34138PhefsTer14) c.102409del (p.Ile34137PhefsTer14) c.101842del (p.Ile33948PhefsTer14) c.99184del (p.Ile33062PhefsTer14) c.99103del (p.Ile33035PhefsTer14) c.80866del (p.Ile26956PhefsTer14) c.70720del (p.Ile23574PhefsTer14) | ClinVar dbSNP |
2 | g.178527017T>A | CA349398146 | TTN,TTN-AS1 | c.100267A>T (p.Ile33423Phe) c.81352A>T (p.Ile27118Phe) c.81151A>T (p.Ile27051Phe) c.80776A>T (p.Ile26926Phe) c.107971A>T (p.Ile35991Phe) c.103048A>T (p.Ile34350Phe) n.446+3381T>A n.219+3381T>A c.107068A>T (p.Ile35690Phe) c.80962A>T (p.Ile26988Phe) c.80821A>T (p.Ile26941Phe) c.106864A>T (p.Ile35622Phe) c.102262A>T (p.Ile34088Phe) c.102259A>T (p.Ile34087Phe) c.99301A>T (p.Ile33101Phe) c.80917A>T (p.Ile26973Phe) c.102412A>T (p.Ile34138Phe) c.102409A>T (p.Ile34137Phe) c.101842A>T (p.Ile33948Phe) c.99184A>T (p.Ile33062Phe) c.99103A>T (p.Ile33035Phe) c.80866A>T (p.Ile26956Phe) c.70720A>T (p.Ile23574Phe) | |
2 | g.178527017T>C | CA349398147 | TTN,TTN-AS1 | c.100267A>G (p.Ile33423Val) c.81352A>G (p.Ile27118Val) c.81151A>G (p.Ile27051Val) c.80776A>G (p.Ile26926Val) c.107971A>G (p.Ile35991Val) c.103048A>G (p.Ile34350Val) n.446+3381T>C n.219+3381T>C c.107068A>G (p.Ile35690Val) c.80962A>G (p.Ile26988Val) c.80821A>G (p.Ile26941Val) c.106864A>G (p.Ile35622Val) c.102262A>G (p.Ile34088Val) c.102259A>G (p.Ile34087Val) c.99301A>G (p.Ile33101Val) c.80917A>G (p.Ile26973Val) c.102412A>G (p.Ile34138Val) c.102409A>G (p.Ile34137Val) c.101842A>G (p.Ile33948Val) c.99184A>G (p.Ile33062Val) c.99103A>G (p.Ile33035Val) c.80866A>G (p.Ile26956Val) c.70720A>G (p.Ile23574Val) | |
2 | g.178527017T>G | CA349398145 | TTN,TTN-AS1 | c.100267A>C (p.Ile33423Leu) c.81352A>C (p.Ile27118Leu) c.81151A>C (p.Ile27051Leu) c.80776A>C (p.Ile26926Leu) c.107971A>C (p.Ile35991Leu) c.103048A>C (p.Ile34350Leu) n.446+3381T>G n.219+3381T>G c.107068A>C (p.Ile35690Leu) c.80962A>C (p.Ile26988Leu) c.80821A>C (p.Ile26941Leu) c.106864A>C (p.Ile35622Leu) c.102262A>C (p.Ile34088Leu) c.102259A>C (p.Ile34087Leu) c.99301A>C (p.Ile33101Leu) c.80917A>C (p.Ile26973Leu) c.102412A>C (p.Ile34138Leu) c.102409A>C (p.Ile34137Leu) c.101842A>C (p.Ile33948Leu) c.99184A>C (p.Ile33062Leu) c.99103A>C (p.Ile33035Leu) c.80866A>C (p.Ile26956Leu) c.70720A>C (p.Ile23574Leu) | |
2 | g.178527018G>A | CA430091451 | TTN,TTN-AS1 | c.100266C>T (p.Ser33422=) c.81351C>T (p.Ser27117=) c.81150C>T (p.Ser27050=) c.80775C>T (p.Ser26925=) c.107970C>T (p.Ser35990=) c.103047C>T (p.Ser34349=) n.446+3382G>A n.219+3382G>A c.107067C>T (p.Ser35689=) c.80961C>T (p.Ser26987=) c.80820C>T (p.Ser26940=) c.106863C>T (p.Ser35621=) c.102261C>T (p.Ser34087=) c.102258C>T (p.Ser34086=) c.99300C>T (p.Ser33100=) c.80916C>T (p.Ser26972=) c.102411C>T (p.Ser34137=) c.102408C>T (p.Ser34136=) c.101841C>T (p.Ser33947=) c.99183C>T (p.Ser33061=) c.99102C>T (p.Ser33034=) c.80865C>T (p.Ser26955=) c.70719C>T (p.Ser23573=) | |
2 | g.178527018G>C | CA430091453 | TTN,TTN-AS1 | c.100266C>G (p.Ser33422=) c.81351C>G (p.Ser27117=) c.81150C>G (p.Ser27050=) c.80775C>G (p.Ser26925=) c.107970C>G (p.Ser35990=) c.103047C>G (p.Ser34349=) n.446+3382G>C n.219+3382G>C c.107067C>G (p.Ser35689=) c.80961C>G (p.Ser26987=) c.80820C>G (p.Ser26940=) c.106863C>G (p.Ser35621=) c.102261C>G (p.Ser34087=) c.102258C>G (p.Ser34086=) c.99300C>G (p.Ser33100=) c.80916C>G (p.Ser26972=) c.102411C>G (p.Ser34137=) c.102408C>G (p.Ser34136=) c.101841C>G (p.Ser33947=) c.99183C>G (p.Ser33061=) c.99102C>G (p.Ser33034=) c.80865C>G (p.Ser26955=) c.70719C>G (p.Ser23573=) | |
2 | g.178527018G>T | CA430091452 | TTN,TTN-AS1 | c.100266C>A (p.Ser33422=) c.81351C>A (p.Ser27117=) c.81150C>A (p.Ser27050=) c.80775C>A (p.Ser26925=) c.107970C>A (p.Ser35990=) c.103047C>A (p.Ser34349=) n.446+3382G>T n.219+3382G>T c.107067C>A (p.Ser35689=) c.80961C>A (p.Ser26987=) c.80820C>A (p.Ser26940=) c.106863C>A (p.Ser35621=) c.102261C>A (p.Ser34087=) c.102258C>A (p.Ser34086=) c.99300C>A (p.Ser33100=) c.80916C>A (p.Ser26972=) c.102411C>A (p.Ser34137=) c.102408C>A (p.Ser34136=) c.101841C>A (p.Ser33947=) c.99183C>A (p.Ser33061=) c.99102C>A (p.Ser33034=) c.80865C>A (p.Ser26955=) c.70719C>A (p.Ser23573=) | |
2 | g.178527019del | CA2586970709 | TTN,TTN-AS1 | c.100266del (p.Ile33423PhefsTer14) c.81351del (p.Ile27118PhefsTer?) c.81150del (p.Ile27051PhefsTer?) c.81351del (p.Ile27118PhefsTer14) c.81150del (p.Ile27051PhefsTer14) c.80775del (p.Ile26926PhefsTer14) c.107970del (p.Ile35991PhefsTer14) c.103047del (p.Ile34350PhefsTer14) n.446+3383del n.219+3383del c.107067del (p.Ile35690PhefsTer14) c.80961del (p.Ile26988PhefsTer14) c.80820del (p.Ile26941PhefsTer14) c.106863del (p.Ile35622PhefsTer14) c.102261del (p.Ile34088PhefsTer14) c.102258del (p.Ile34087PhefsTer14) c.99300del (p.Ile33101PhefsTer14) c.80916del (p.Ile26973PhefsTer14) c.102411del (p.Ile34138PhefsTer14) c.102408del (p.Ile34137PhefsTer14) c.101841del (p.Ile33948PhefsTer14) c.99183del (p.Ile33062PhefsTer14) c.99102del (p.Ile33035PhefsTer14) c.80865del (p.Ile26956PhefsTer14) c.70719del (p.Ile23574PhefsTer14) | |
2 | g.178527019G>A | CA349398150 | TTN,TTN-AS1 | c.100265C>T (p.Ser33422Phe) c.81350C>T (p.Ser27117Phe) c.81149C>T (p.Ser27050Phe) c.80774C>T (p.Ser26925Phe) c.107969C>T (p.Ser35990Phe) c.103046C>T (p.Ser34349Phe) n.446+3383G>A n.219+3383G>A c.107066C>T (p.Ser35689Phe) c.80960C>T (p.Ser26987Phe) c.80819C>T (p.Ser26940Phe) c.106862C>T (p.Ser35621Phe) c.102260C>T (p.Ser34087Phe) c.102257C>T (p.Ser34086Phe) c.99299C>T (p.Ser33100Phe) c.80915C>T (p.Ser26972Phe) c.102410C>T (p.Ser34137Phe) c.102407C>T (p.Ser34136Phe) c.101840C>T (p.Ser33947Phe) c.99182C>T (p.Ser33061Phe) c.99101C>T (p.Ser33034Phe) c.80864C>T (p.Ser26955Phe) c.70718C>T (p.Ser23573Phe) | |
2 | g.178527019G>C | CA349398148 | TTN,TTN-AS1 | c.100265C>G (p.Ser33422Cys) c.81350C>G (p.Ser27117Cys) c.81149C>G (p.Ser27050Cys) c.80774C>G (p.Ser26925Cys) c.107969C>G (p.Ser35990Cys) c.103046C>G (p.Ser34349Cys) n.446+3383G>C n.219+3383G>C c.107066C>G (p.Ser35689Cys) c.80960C>G (p.Ser26987Cys) c.80819C>G (p.Ser26940Cys) c.106862C>G (p.Ser35621Cys) c.102260C>G (p.Ser34087Cys) c.102257C>G (p.Ser34086Cys) c.99299C>G (p.Ser33100Cys) c.80915C>G (p.Ser26972Cys) c.102410C>G (p.Ser34137Cys) c.102407C>G (p.Ser34136Cys) c.101840C>G (p.Ser33947Cys) c.99182C>G (p.Ser33061Cys) c.99101C>G (p.Ser33034Cys) c.80864C>G (p.Ser26955Cys) c.70718C>G (p.Ser23573Cys) | |
2 | g.178527019G>T | CA349398149 | TTN,TTN-AS1 | c.100265C>A (p.Ser33422Tyr) c.81350C>A (p.Ser27117Tyr) c.81149C>A (p.Ser27050Tyr) c.80774C>A (p.Ser26925Tyr) c.107969C>A (p.Ser35990Tyr) c.103046C>A (p.Ser34349Tyr) n.446+3383G>T n.219+3383G>T c.107066C>A (p.Ser35689Tyr) c.80960C>A (p.Ser26987Tyr) c.80819C>A (p.Ser26940Tyr) c.106862C>A (p.Ser35621Tyr) c.102260C>A (p.Ser34087Tyr) c.102257C>A (p.Ser34086Tyr) c.99299C>A (p.Ser33100Tyr) c.80915C>A (p.Ser26972Tyr) c.102410C>A (p.Ser34137Tyr) c.102407C>A (p.Ser34136Tyr) c.101840C>A (p.Ser33947Tyr) c.99182C>A (p.Ser33061Tyr) c.99101C>A (p.Ser33034Tyr) c.80864C>A (p.Ser26955Tyr) c.70718C>A (p.Ser23573Tyr) | |
2 | g.178527020A>C | CA349398151 | TTN,TTN-AS1 | c.100264T>G (p.Ser33422Ala) c.81349T>G (p.Ser27117Ala) c.81148T>G (p.Ser27050Ala) c.80773T>G (p.Ser26925Ala) c.107968T>G (p.Ser35990Ala) c.103045T>G (p.Ser34349Ala) n.446+3384A>C n.219+3384A>C c.107065T>G (p.Ser35689Ala) c.80959T>G (p.Ser26987Ala) c.80818T>G (p.Ser26940Ala) c.106861T>G (p.Ser35621Ala) c.102259T>G (p.Ser34087Ala) c.102256T>G (p.Ser34086Ala) c.99298T>G (p.Ser33100Ala) c.80914T>G (p.Ser26972Ala) c.102409T>G (p.Ser34137Ala) c.102406T>G (p.Ser34136Ala) c.101839T>G (p.Ser33947Ala) c.99181T>G (p.Ser33061Ala) c.99100T>G (p.Ser33034Ala) c.80863T>G (p.Ser26955Ala) c.70717T>G (p.Ser23573Ala) | |
2 | g.178527020A>G | CA349398152 | TTN,TTN-AS1 | c.100264T>C (p.Ser33422Pro) c.81349T>C (p.Ser27117Pro) c.81148T>C (p.Ser27050Pro) c.80773T>C (p.Ser26925Pro) c.107968T>C (p.Ser35990Pro) c.103045T>C (p.Ser34349Pro) n.446+3384A>G n.219+3384A>G c.107065T>C (p.Ser35689Pro) c.80959T>C (p.Ser26987Pro) c.80818T>C (p.Ser26940Pro) c.106861T>C (p.Ser35621Pro) c.102259T>C (p.Ser34087Pro) c.102256T>C (p.Ser34086Pro) c.99298T>C (p.Ser33100Pro) c.80914T>C (p.Ser26972Pro) c.102409T>C (p.Ser34137Pro) c.102406T>C (p.Ser34136Pro) c.101839T>C (p.Ser33947Pro) c.99181T>C (p.Ser33061Pro) c.99100T>C (p.Ser33034Pro) c.80863T>C (p.Ser26955Pro) c.70717T>C (p.Ser23573Pro) | |
2 | g.178527020A>T | CA349398153 | TTN,TTN-AS1 | c.100264T>A (p.Ser33422Thr) c.81349T>A (p.Ser27117Thr) c.81148T>A (p.Ser27050Thr) c.80773T>A (p.Ser26925Thr) c.107968T>A (p.Ser35990Thr) c.103045T>A (p.Ser34349Thr) n.446+3384A>T n.219+3384A>T c.107065T>A (p.Ser35689Thr) c.80959T>A (p.Ser26987Thr) c.80818T>A (p.Ser26940Thr) c.106861T>A (p.Ser35621Thr) c.102259T>A (p.Ser34087Thr) c.102256T>A (p.Ser34086Thr) c.99298T>A (p.Ser33100Thr) c.80914T>A (p.Ser26972Thr) c.102409T>A (p.Ser34137Thr) c.102406T>A (p.Ser34136Thr) c.101839T>A (p.Ser33947Thr) c.99181T>A (p.Ser33061Thr) c.99100T>A (p.Ser33034Thr) c.80863T>A (p.Ser26955Thr) c.70717T>A (p.Ser23573Thr) | |
2 | g.178527021T>A | CA430091454 | TTN,TTN-AS1 | c.100263A>T (p.Arg33421=) c.81348A>T (p.Arg27116=) c.81147A>T (p.Arg27049=) c.80772A>T (p.Arg26924=) c.107967A>T (p.Arg35989=) c.103044A>T (p.Arg34348=) n.446+3385T>A n.219+3385T>A c.107064A>T (p.Arg35688=) c.80958A>T (p.Arg26986=) c.80817A>T (p.Arg26939=) c.106860A>T (p.Arg35620=) c.102258A>T (p.Arg34086=) c.102255A>T (p.Arg34085=) c.99297A>T (p.Arg33099=) c.80913A>T (p.Arg26971=) c.102408A>T (p.Arg34136=) c.102405A>T (p.Arg34135=) c.101838A>T (p.Arg33946=) c.99180A>T (p.Arg33060=) c.99099A>T (p.Arg33033=) c.80862A>T (p.Arg26954=) c.70716A>T (p.Arg23572=) | dbSNP gnomAD v4 |
2 | g.178527021T>C | CA430091455 | TTN,TTN-AS1 | c.100263A>G (p.Arg33421=) c.81348A>G (p.Arg27116=) c.81147A>G (p.Arg27049=) c.80772A>G (p.Arg26924=) c.107967A>G (p.Arg35989=) c.103044A>G (p.Arg34348=) n.446+3385T>C n.219+3385T>C c.107064A>G (p.Arg35688=) c.80958A>G (p.Arg26986=) c.80817A>G (p.Arg26939=) c.106860A>G (p.Arg35620=) c.102258A>G (p.Arg34086=) c.102255A>G (p.Arg34085=) c.99297A>G (p.Arg33099=) c.80913A>G (p.Arg26971=) c.102408A>G (p.Arg34136=) c.102405A>G (p.Arg34135=) c.101838A>G (p.Arg33946=) c.99180A>G (p.Arg33060=) c.99099A>G (p.Arg33033=) c.80862A>G (p.Arg26954=) c.70716A>G (p.Arg23572=) | |
2 | g.178527021T>G | CA430091456 | TTN,TTN-AS1 | c.100263A>C (p.Arg33421=) c.81348A>C (p.Arg27116=) c.81147A>C (p.Arg27049=) c.80772A>C (p.Arg26924=) c.107967A>C (p.Arg35989=) c.103044A>C (p.Arg34348=) n.446+3385T>G n.219+3385T>G c.107064A>C (p.Arg35688=) c.80958A>C (p.Arg26986=) c.80817A>C (p.Arg26939=) c.106860A>C (p.Arg35620=) c.102258A>C (p.Arg34086=) c.102255A>C (p.Arg34085=) c.99297A>C (p.Arg33099=) c.80913A>C (p.Arg26971=) c.102408A>C (p.Arg34136=) c.102405A>C (p.Arg34135=) c.101838A>C (p.Arg33946=) c.99180A>C (p.Arg33060=) c.99099A>C (p.Arg33033=) c.80862A>C (p.Arg26954=) c.70716A>C (p.Arg23572=) | |
2 | g.178527021T= | CA1310514271 | TTN,TTN-AS1 | c.100263A= (p.Arg33421=) c.81348A= (p.Arg27116=) c.81147A= (p.Arg27049=) c.80772A= (p.Arg26924=) c.107967A= (p.Arg35989=) c.103044A= (p.Arg34348=) n.446+3385T= n.219+3385T= c.107064A= (p.Arg35688=) c.80958A= (p.Arg26986=) c.80817A= (p.Arg26939=) c.106860A= (p.Arg35620=) c.102258A= (p.Arg34086=) c.102255A= (p.Arg34085=) c.99297A= (p.Arg33099=) c.80913A= (p.Arg26971=) c.102408A= (p.Arg34136=) c.102405A= (p.Arg34135=) c.101838A= (p.Arg33946=) c.99180A= (p.Arg33060=) c.99099A= (p.Arg33033=) c.80862A= (p.Arg26954=) c.70716A= (p.Arg23572=) | |
2 | g.178527022C>A | CA349398155 | TTN,TTN-AS1 | c.100262G>T (p.Arg33421Leu) c.81347G>T (p.Arg27116Leu) c.81146G>T (p.Arg27049Leu) c.80771G>T (p.Arg26924Leu) c.107966G>T (p.Arg35989Leu) c.103043G>T (p.Arg34348Leu) n.446+3386C>A n.219+3386C>A c.107063G>T (p.Arg35688Leu) c.80957G>T (p.Arg26986Leu) c.80816G>T (p.Arg26939Leu) c.106859G>T (p.Arg35620Leu) c.102257G>T (p.Arg34086Leu) c.102254G>T (p.Arg34085Leu) c.99296G>T (p.Arg33099Leu) c.80912G>T (p.Arg26971Leu) c.102407G>T (p.Arg34136Leu) c.102404G>T (p.Arg34135Leu) c.101837G>T (p.Arg33946Leu) c.99179G>T (p.Arg33060Leu) c.99098G>T (p.Arg33033Leu) c.80861G>T (p.Arg26954Leu) c.70715G>T (p.Arg23572Leu) | gnomAD v4 |
2 | g.178527022C= | CA1310514272 | TTN,TTN-AS1 | c.100262G= (p.Arg33421=) c.81347G= (p.Arg27116=) c.81146G= (p.Arg27049=) c.80771G= (p.Arg26924=) c.107966G= (p.Arg35989=) c.103043G= (p.Arg34348=) n.446+3386C= n.219+3386C= c.107063G= (p.Arg35688=) c.80957G= (p.Arg26986=) c.80816G= (p.Arg26939=) c.106859G= (p.Arg35620=) c.102257G= (p.Arg34086=) c.102254G= (p.Arg34085=) c.99296G= (p.Arg33099=) c.80912G= (p.Arg26971=) c.102407G= (p.Arg34136=) c.102404G= (p.Arg34135=) c.101837G= (p.Arg33946=) c.99179G= (p.Arg33060=) c.99098G= (p.Arg33033=) c.80861G= (p.Arg26954=) c.70715G= (p.Arg23572=) | |
2 | g.178527022C>G | CA349398154 | TTN,TTN-AS1 | c.100262G>C (p.Arg33421Pro) c.81347G>C (p.Arg27116Pro) c.81146G>C (p.Arg27049Pro) c.80771G>C (p.Arg26924Pro) c.107966G>C (p.Arg35989Pro) c.103043G>C (p.Arg34348Pro) n.446+3386C>G n.219+3386C>G c.107063G>C (p.Arg35688Pro) c.80957G>C (p.Arg26986Pro) c.80816G>C (p.Arg26939Pro) c.106859G>C (p.Arg35620Pro) c.102257G>C (p.Arg34086Pro) c.102254G>C (p.Arg34085Pro) c.99296G>C (p.Arg33099Pro) c.80912G>C (p.Arg26971Pro) c.102407G>C (p.Arg34136Pro) c.102404G>C (p.Arg34135Pro) c.101837G>C (p.Arg33946Pro) c.99179G>C (p.Arg33060Pro) c.99098G>C (p.Arg33033Pro) c.80861G>C (p.Arg26954Pro) c.70715G>C (p.Arg23572Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178527022C>T | CA1984853 | TTN,TTN-AS1 | c.100262G>A (p.Arg33421Gln) c.81347G>A (p.Arg27116Gln) c.81146G>A (p.Arg27049Gln) c.80771G>A (p.Arg26924Gln) c.107966G>A (p.Arg35989Gln) c.103043G>A (p.Arg34348Gln) n.446+3386C>T n.219+3386C>T c.107063G>A (p.Arg35688Gln) c.80957G>A (p.Arg26986Gln) c.80816G>A (p.Arg26939Gln) c.106859G>A (p.Arg35620Gln) c.102257G>A (p.Arg34086Gln) c.102254G>A (p.Arg34085Gln) c.99296G>A (p.Arg33099Gln) c.80912G>A (p.Arg26971Gln) c.102407G>A (p.Arg34136Gln) c.102404G>A (p.Arg34135Gln) c.101837G>A (p.Arg33946Gln) c.99179G>A (p.Arg33060Gln) c.99098G>A (p.Arg33033Gln) c.80861G>A (p.Arg26954Gln) c.70715G>A (p.Arg23572Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178527023G>A | CA309523 | TTN,TTN-AS1 | c.100261C>T (p.Arg33421Ter) c.81346C>T (p.Arg27116Ter) c.81145C>T (p.Arg27049Ter) c.80770C>T (p.Arg26924Ter) c.107965C>T (p.Arg35989Ter) c.103042C>T (p.Arg34348Ter) n.446+3387G>A n.219+3387G>A c.107062C>T (p.Arg35688Ter) c.80956C>T (p.Arg26986Ter) c.80815C>T (p.Arg26939Ter) c.106858C>T (p.Arg35620Ter) c.102256C>T (p.Arg34086Ter) c.102253C>T (p.Arg34085Ter) c.99295C>T (p.Arg33099Ter) c.80911C>T (p.Arg26971Ter) c.102406C>T (p.Arg34136Ter) c.102403C>T (p.Arg34135Ter) c.101836C>T (p.Arg33946Ter) c.99178C>T (p.Arg33060Ter) c.99097C>T (p.Arg33033Ter) c.80860C>T (p.Arg26954Ter) c.70714C>T (p.Arg23572Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178527023G>C | CA349398156 | TTN,TTN-AS1 | c.100261C>G (p.Arg33421Gly) c.81346C>G (p.Arg27116Gly) c.81145C>G (p.Arg27049Gly) c.80770C>G (p.Arg26924Gly) c.107965C>G (p.Arg35989Gly) c.103042C>G (p.Arg34348Gly) n.446+3387G>C n.219+3387G>C c.107062C>G (p.Arg35688Gly) c.80956C>G (p.Arg26986Gly) c.80815C>G (p.Arg26939Gly) c.106858C>G (p.Arg35620Gly) c.102256C>G (p.Arg34086Gly) c.102253C>G (p.Arg34085Gly) c.99295C>G (p.Arg33099Gly) c.80911C>G (p.Arg26971Gly) c.102406C>G (p.Arg34136Gly) c.102403C>G (p.Arg34135Gly) c.101836C>G (p.Arg33946Gly) c.99178C>G (p.Arg33060Gly) c.99097C>G (p.Arg33033Gly) c.80860C>G (p.Arg26954Gly) c.70714C>G (p.Arg23572Gly) | |
2 | g.178527023G= | CA1310514273 | TTN,TTN-AS1 | c.100261C= (p.Arg33421=) c.81346C= (p.Arg27116=) c.81145C= (p.Arg27049=) c.80770C= (p.Arg26924=) c.107965C= (p.Arg35989=) c.103042C= (p.Arg34348=) n.446+3387G= n.219+3387G= c.107062C= (p.Arg35688=) c.80956C= (p.Arg26986=) c.80815C= (p.Arg26939=) c.106858C= (p.Arg35620=) c.102256C= (p.Arg34086=) c.102253C= (p.Arg34085=) c.99295C= (p.Arg33099=) c.80911C= (p.Arg26971=) c.102406C= (p.Arg34136=) c.102403C= (p.Arg34135=) c.101836C= (p.Arg33946=) c.99178C= (p.Arg33060=) c.99097C= (p.Arg33033=) c.80860C= (p.Arg26954=) c.70714C= (p.Arg23572=) | |
2 | g.178527023G>T | CA430091457 | TTN,TTN-AS1 | c.100261C>A (p.Arg33421=) c.81346C>A (p.Arg27116=) c.81145C>A (p.Arg27049=) c.80770C>A (p.Arg26924=) c.107965C>A (p.Arg35989=) c.103042C>A (p.Arg34348=) n.446+3387G>T n.219+3387G>T c.107062C>A (p.Arg35688=) c.80956C>A (p.Arg26986=) c.80815C>A (p.Arg26939=) c.106858C>A (p.Arg35620=) c.102256C>A (p.Arg34086=) c.102253C>A (p.Arg34085=) c.99295C>A (p.Arg33099=) c.80911C>A (p.Arg26971=) c.102406C>A (p.Arg34136=) c.102403C>A (p.Arg34135=) c.101836C>A (p.Arg33946=) c.99178C>A (p.Arg33060=) c.99097C>A (p.Arg33033=) c.80860C>A (p.Arg26954=) c.70714C>A (p.Arg23572=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178527024A>C | CA349398157 | TTN,TTN-AS1 | c.100260T>G (p.Ile33420Met) c.81345T>G (p.Ile27115Met) c.81144T>G (p.Ile27048Met) c.80769T>G (p.Ile26923Met) c.107964T>G (p.Ile35988Met) c.103041T>G (p.Ile34347Met) n.446+3388A>C n.219+3388A>C c.107061T>G (p.Ile35687Met) c.80955T>G (p.Ile26985Met) c.80814T>G (p.Ile26938Met) c.106857T>G (p.Ile35619Met) c.102255T>G (p.Ile34085Met) c.102252T>G (p.Ile34084Met) c.99294T>G (p.Ile33098Met) c.80910T>G (p.Ile26970Met) c.102405T>G (p.Ile34135Met) c.102402T>G (p.Ile34134Met) c.101835T>G (p.Ile33945Met) c.99177T>G (p.Ile33059Met) c.99096T>G (p.Ile33032Met) c.80859T>G (p.Ile26953Met) c.70713T>G (p.Ile23571Met) | |
2 | g.178527024A>G | CA430091458 | TTN,TTN-AS1 | c.100260T>C (p.Ile33420=) c.81345T>C (p.Ile27115=) c.81144T>C (p.Ile27048=) c.80769T>C (p.Ile26923=) c.107964T>C (p.Ile35988=) c.103041T>C (p.Ile34347=) n.446+3388A>G n.219+3388A>G c.107061T>C (p.Ile35687=) c.80955T>C (p.Ile26985=) c.80814T>C (p.Ile26938=) c.106857T>C (p.Ile35619=) c.102255T>C (p.Ile34085=) c.102252T>C (p.Ile34084=) c.99294T>C (p.Ile33098=) c.80910T>C (p.Ile26970=) c.102405T>C (p.Ile34135=) c.102402T>C (p.Ile34134=) c.101835T>C (p.Ile33945=) c.99177T>C (p.Ile33059=) c.99096T>C (p.Ile33032=) c.80859T>C (p.Ile26953=) c.70713T>C (p.Ile23571=) | |
2 | g.178527024A>T | CA430091459 | TTN,TTN-AS1 | c.100260T>A (p.Ile33420=) c.81345T>A (p.Ile27115=) c.81144T>A (p.Ile27048=) c.80769T>A (p.Ile26923=) c.107964T>A (p.Ile35988=) c.103041T>A (p.Ile34347=) n.446+3388A>T n.219+3388A>T c.107061T>A (p.Ile35687=) c.80955T>A (p.Ile26985=) c.80814T>A (p.Ile26938=) c.106857T>A (p.Ile35619=) c.102255T>A (p.Ile34085=) c.102252T>A (p.Ile34084=) c.99294T>A (p.Ile33098=) c.80910T>A (p.Ile26970=) c.102405T>A (p.Ile34135=) c.102402T>A (p.Ile34134=) c.101835T>A (p.Ile33945=) c.99177T>A (p.Ile33059=) c.99096T>A (p.Ile33032=) c.80859T>A (p.Ile26953=) c.70713T>A (p.Ile23571=) | |
2 | g.178527025A>C | CA349398158 | TTN,TTN-AS1 | c.100259T>G (p.Ile33420Ser) c.81344T>G (p.Ile27115Ser) c.81143T>G (p.Ile27048Ser) c.80768T>G (p.Ile26923Ser) c.107963T>G (p.Ile35988Ser) c.103040T>G (p.Ile34347Ser) n.446+3389A>C n.219+3389A>C c.107060T>G (p.Ile35687Ser) c.80954T>G (p.Ile26985Ser) c.80813T>G (p.Ile26938Ser) c.106856T>G (p.Ile35619Ser) c.102254T>G (p.Ile34085Ser) c.102251T>G (p.Ile34084Ser) c.99293T>G (p.Ile33098Ser) c.80909T>G (p.Ile26970Ser) c.102404T>G (p.Ile34135Ser) c.102401T>G (p.Ile34134Ser) c.101834T>G (p.Ile33945Ser) c.99176T>G (p.Ile33059Ser) c.99095T>G (p.Ile33032Ser) c.80858T>G (p.Ile26953Ser) c.70712T>G (p.Ile23571Ser) | |
2 | g.178527025A>G | CA349398159 | TTN,TTN-AS1 | c.100259T>C (p.Ile33420Thr) c.81344T>C (p.Ile27115Thr) c.81143T>C (p.Ile27048Thr) c.80768T>C (p.Ile26923Thr) c.107963T>C (p.Ile35988Thr) c.103040T>C (p.Ile34347Thr) n.446+3389A>G n.219+3389A>G c.107060T>C (p.Ile35687Thr) c.80954T>C (p.Ile26985Thr) c.80813T>C (p.Ile26938Thr) c.106856T>C (p.Ile35619Thr) c.102254T>C (p.Ile34085Thr) c.102251T>C (p.Ile34084Thr) c.99293T>C (p.Ile33098Thr) c.80909T>C (p.Ile26970Thr) c.102404T>C (p.Ile34135Thr) c.102401T>C (p.Ile34134Thr) c.101834T>C (p.Ile33945Thr) c.99176T>C (p.Ile33059Thr) c.99095T>C (p.Ile33032Thr) c.80858T>C (p.Ile26953Thr) c.70712T>C (p.Ile23571Thr) | |
2 | g.178527025A>T | CA349398160 | TTN,TTN-AS1 | c.100259T>A (p.Ile33420Asn) c.81344T>A (p.Ile27115Asn) c.81143T>A (p.Ile27048Asn) c.80768T>A (p.Ile26923Asn) c.107963T>A (p.Ile35988Asn) c.103040T>A (p.Ile34347Asn) n.446+3389A>T n.219+3389A>T c.107060T>A (p.Ile35687Asn) c.80954T>A (p.Ile26985Asn) c.80813T>A (p.Ile26938Asn) c.106856T>A (p.Ile35619Asn) c.102254T>A (p.Ile34085Asn) c.102251T>A (p.Ile34084Asn) c.99293T>A (p.Ile33098Asn) c.80909T>A (p.Ile26970Asn) c.102404T>A (p.Ile34135Asn) c.102401T>A (p.Ile34134Asn) c.101834T>A (p.Ile33945Asn) c.99176T>A (p.Ile33059Asn) c.99095T>A (p.Ile33032Asn) c.80858T>A (p.Ile26953Asn) c.70712T>A (p.Ile23571Asn) | |
2 | g.178527027_178527028del | CA2586970710 | TTN,TTN-AS1 | c.100258_100259del (p.Ile33420SerfsTer26) c.81343_81344del (p.Ile27115SerfsTer?) c.81142_81143del (p.Ile27048SerfsTer?) c.81343_81344del (p.Ile27115SerfsTer26) c.81142_81143del (p.Ile27048SerfsTer26) c.80767_80768del (p.Ile26923SerfsTer26) c.107962_107963del (p.Ile35988SerfsTer26) c.103039_103040del (p.Ile34347SerfsTer26) n.446+3391_446+3392del n.219+3391_219+3392del c.107059_107060del (p.Ile35687SerfsTer26) c.80953_80954del (p.Ile26985SerfsTer26) c.80812_80813del (p.Ile26938SerfsTer26) c.106855_106856del (p.Ile35619SerfsTer26) c.102253_102254del (p.Ile34085SerfsTer26) c.102250_102251del (p.Ile34084SerfsTer26) c.99292_99293del (p.Ile33098SerfsTer26) c.80908_80909del (p.Ile26970SerfsTer26) c.102403_102404del (p.Ile34135SerfsTer26) c.102400_102401del (p.Ile34134SerfsTer26) c.101833_101834del (p.Ile33945SerfsTer26) c.99175_99176del (p.Ile33059SerfsTer26) c.99094_99095del (p.Ile33032SerfsTer26) c.80857_80858del (p.Ile26953SerfsTer26) c.70711_70712del (p.Ile23571SerfsTer26) | |
2 | g.178527026T>A | CA349398163 | TTN,TTN-AS1 | c.100258A>T (p.Ile33420Phe) c.81343A>T (p.Ile27115Phe) c.81142A>T (p.Ile27048Phe) c.80767A>T (p.Ile26923Phe) c.107962A>T (p.Ile35988Phe) c.103039A>T (p.Ile34347Phe) n.446+3390T>A n.219+3390T>A c.107059A>T (p.Ile35687Phe) c.80953A>T (p.Ile26985Phe) c.80812A>T (p.Ile26938Phe) c.106855A>T (p.Ile35619Phe) c.102253A>T (p.Ile34085Phe) c.102250A>T (p.Ile34084Phe) c.99292A>T (p.Ile33098Phe) c.80908A>T (p.Ile26970Phe) c.102403A>T (p.Ile34135Phe) c.102400A>T (p.Ile34134Phe) c.101833A>T (p.Ile33945Phe) c.99175A>T (p.Ile33059Phe) c.99094A>T (p.Ile33032Phe) c.80857A>T (p.Ile26953Phe) c.70711A>T (p.Ile23571Phe) | |
2 | g.178527026T>C | CA349398161 | TTN,TTN-AS1 | c.100258A>G (p.Ile33420Val) c.81343A>G (p.Ile27115Val) c.81142A>G (p.Ile27048Val) c.80767A>G (p.Ile26923Val) c.107962A>G (p.Ile35988Val) c.103039A>G (p.Ile34347Val) n.446+3390T>C n.219+3390T>C c.107059A>G (p.Ile35687Val) c.80953A>G (p.Ile26985Val) c.80812A>G (p.Ile26938Val) c.106855A>G (p.Ile35619Val) c.102253A>G (p.Ile34085Val) c.102250A>G (p.Ile34084Val) c.99292A>G (p.Ile33098Val) c.80908A>G (p.Ile26970Val) c.102403A>G (p.Ile34135Val) c.102400A>G (p.Ile34134Val) c.101833A>G (p.Ile33945Val) c.99175A>G (p.Ile33059Val) c.99094A>G (p.Ile33032Val) c.80857A>G (p.Ile26953Val) c.70711A>G (p.Ile23571Val) | gnomAD v4 |
2 | g.178527026T>G | CA349398162 | TTN,TTN-AS1 | c.100258A>C (p.Ile33420Leu) c.81343A>C (p.Ile27115Leu) c.81142A>C (p.Ile27048Leu) c.80767A>C (p.Ile26923Leu) c.107962A>C (p.Ile35988Leu) c.103039A>C (p.Ile34347Leu) n.446+3390T>G n.219+3390T>G c.107059A>C (p.Ile35687Leu) c.80953A>C (p.Ile26985Leu) c.80812A>C (p.Ile26938Leu) c.106855A>C (p.Ile35619Leu) c.102253A>C (p.Ile34085Leu) c.102250A>C (p.Ile34084Leu) c.99292A>C (p.Ile33098Leu) c.80908A>C (p.Ile26970Leu) c.102403A>C (p.Ile34135Leu) c.102400A>C (p.Ile34134Leu) c.101833A>C (p.Ile33945Leu) c.99175A>C (p.Ile33059Leu) c.99094A>C (p.Ile33032Leu) c.80857A>C (p.Ile26953Leu) c.70711A>C (p.Ile23571Leu) | |
2 | g.178527027A= | CA1310514274 | TTN,TTN-AS1 | c.100257T= (p.His33419=) c.81342T= (p.His27114=) c.81141T= (p.His27047=) c.80766T= (p.His26922=) c.107961T= (p.His35987=) c.103038T= (p.His34346=) n.446+3391A= n.219+3391A= c.107058T= (p.His35686=) c.80952T= (p.His26984=) c.80811T= (p.His26937=) c.106854T= (p.His35618=) c.102252T= (p.His34084=) c.102249T= (p.His34083=) c.99291T= (p.His33097=) c.80907T= (p.His26969=) c.102402T= (p.His34134=) c.102399T= (p.His34133=) c.101832T= (p.His33944=) c.99174T= (p.His33058=) c.99093T= (p.His33031=) c.80856T= (p.His26952=) c.70710T= (p.His23570=) | |
2 | g.178527027A>C | CA349398164 | TTN,TTN-AS1 | c.100257T>G (p.His33419Gln) c.81342T>G (p.His27114Gln) c.81141T>G (p.His27047Gln) c.80766T>G (p.His26922Gln) c.107961T>G (p.His35987Gln) c.103038T>G (p.His34346Gln) n.446+3391A>C n.219+3391A>C c.107058T>G (p.His35686Gln) c.80952T>G (p.His26984Gln) c.80811T>G (p.His26937Gln) c.106854T>G (p.His35618Gln) c.102252T>G (p.His34084Gln) c.102249T>G (p.His34083Gln) c.99291T>G (p.His33097Gln) c.80907T>G (p.His26969Gln) c.102402T>G (p.His34134Gln) c.102399T>G (p.His34133Gln) c.101832T>G (p.His33944Gln) c.99174T>G (p.His33058Gln) c.99093T>G (p.His33031Gln) c.80856T>G (p.His26952Gln) c.70710T>G (p.His23570Gln) | |
2 | g.178527027A>G | CA295714 | TTN,TTN-AS1 | c.100257T>C (p.His33419=) c.81342T>C (p.His27114=) c.81141T>C (p.His27047=) c.80766T>C (p.His26922=) c.107961T>C (p.His35987=) c.103038T>C (p.His34346=) n.446+3391A>G n.219+3391A>G c.107058T>C (p.His35686=) c.80952T>C (p.His26984=) c.80811T>C (p.His26937=) c.106854T>C (p.His35618=) c.102252T>C (p.His34084=) c.102249T>C (p.His34083=) c.99291T>C (p.His33097=) c.80907T>C (p.His26969=) c.102402T>C (p.His34134=) c.102399T>C (p.His34133=) c.101832T>C (p.His33944=) c.99174T>C (p.His33058=) c.99093T>C (p.His33031=) c.80856T>C (p.His26952=) c.70710T>C (p.His23570=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178527027A>T | CA349398165 | TTN,TTN-AS1 | c.100257T>A (p.His33419Gln) c.81342T>A (p.His27114Gln) c.81141T>A (p.His27047Gln) c.80766T>A (p.His26922Gln) c.107961T>A (p.His35987Gln) c.103038T>A (p.His34346Gln) n.446+3391A>T n.219+3391A>T c.107058T>A (p.His35686Gln) c.80952T>A (p.His26984Gln) c.80811T>A (p.His26937Gln) c.106854T>A (p.His35618Gln) c.102252T>A (p.His34084Gln) c.102249T>A (p.His34083Gln) c.99291T>A (p.His33097Gln) c.80907T>A (p.His26969Gln) c.102402T>A (p.His34134Gln) c.102399T>A (p.His34133Gln) c.101832T>A (p.His33944Gln) c.99174T>A (p.His33058Gln) c.99093T>A (p.His33031Gln) c.80856T>A (p.His26952Gln) c.70710T>A (p.His23570Gln) | |
2 | g.178527028T>A | CA349398166 | TTN,TTN-AS1 | c.100256A>T (p.His33419Leu) c.81341A>T (p.His27114Leu) c.81140A>T (p.His27047Leu) c.80765A>T (p.His26922Leu) c.107960A>T (p.His35987Leu) c.103037A>T (p.His34346Leu) n.446+3392T>A n.219+3392T>A c.107057A>T (p.His35686Leu) c.80951A>T (p.His26984Leu) c.80810A>T (p.His26937Leu) c.106853A>T (p.His35618Leu) c.102251A>T (p.His34084Leu) c.102248A>T (p.His34083Leu) c.99290A>T (p.His33097Leu) c.80906A>T (p.His26969Leu) c.102401A>T (p.His34134Leu) c.102398A>T (p.His34133Leu) c.101831A>T (p.His33944Leu) c.99173A>T (p.His33058Leu) c.99092A>T (p.His33031Leu) c.80855A>T (p.His26952Leu) c.70709A>T (p.His23570Leu) | |
2 | g.178527028T>C | CA1984854 | TTN,TTN-AS1 | c.100256A>G (p.His33419Arg) c.81341A>G (p.His27114Arg) c.81140A>G (p.His27047Arg) c.80765A>G (p.His26922Arg) c.107960A>G (p.His35987Arg) c.103037A>G (p.His34346Arg) n.446+3392T>C n.219+3392T>C c.107057A>G (p.His35686Arg) c.80951A>G (p.His26984Arg) c.80810A>G (p.His26937Arg) c.106853A>G (p.His35618Arg) c.102251A>G (p.His34084Arg) c.102248A>G (p.His34083Arg) c.99290A>G (p.His33097Arg) c.80906A>G (p.His26969Arg) c.102401A>G (p.His34134Arg) c.102398A>G (p.His34133Arg) c.101831A>G (p.His33944Arg) c.99173A>G (p.His33058Arg) c.99092A>G (p.His33031Arg) c.80855A>G (p.His26952Arg) c.70709A>G (p.His23570Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178527028T>G | CA349398167 | TTN,TTN-AS1 | c.100256A>C (p.His33419Pro) c.81341A>C (p.His27114Pro) c.81140A>C (p.His27047Pro) c.80765A>C (p.His26922Pro) c.107960A>C (p.His35987Pro) c.103037A>C (p.His34346Pro) n.446+3392T>G n.219+3392T>G c.107057A>C (p.His35686Pro) c.80951A>C (p.His26984Pro) c.80810A>C (p.His26937Pro) c.106853A>C (p.His35618Pro) c.102251A>C (p.His34084Pro) c.102248A>C (p.His34083Pro) c.99290A>C (p.His33097Pro) c.80906A>C (p.His26969Pro) c.102401A>C (p.His34134Pro) c.102398A>C (p.His34133Pro) c.101831A>C (p.His33944Pro) c.99173A>C (p.His33058Pro) c.99092A>C (p.His33031Pro) c.80855A>C (p.His26952Pro) c.70709A>C (p.His23570Pro) | |
2 | g.178527028T= | CA1310514275 | TTN,TTN-AS1 | c.100256A= (p.His33419=) c.81341A= (p.His27114=) c.81140A= (p.His27047=) c.80765A= (p.His26922=) c.107960A= (p.His35987=) c.103037A= (p.His34346=) n.446+3392T= n.219+3392T= c.107057A= (p.His35686=) c.80951A= (p.His26984=) c.80810A= (p.His26937=) c.106853A= (p.His35618=) c.102251A= (p.His34084=) c.102248A= (p.His34083=) c.99290A= (p.His33097=) c.80906A= (p.His26969=) c.102401A= (p.His34134=) c.102398A= (p.His34133=) c.101831A= (p.His33944=) c.99173A= (p.His33058=) c.99092A= (p.His33031=) c.80855A= (p.His26952=) c.70709A= (p.His23570=) | |
2 | g.178527029G>A | CA349398168 | TTN,TTN-AS1 | c.100255C>T (p.His33419Tyr) c.81340C>T (p.His27114Tyr) c.81139C>T (p.His27047Tyr) c.80764C>T (p.His26922Tyr) c.107959C>T (p.His35987Tyr) c.103036C>T (p.His34346Tyr) n.446+3393G>A n.219+3393G>A c.107056C>T (p.His35686Tyr) c.80950C>T (p.His26984Tyr) c.80809C>T (p.His26937Tyr) c.106852C>T (p.His35618Tyr) c.102250C>T (p.His34084Tyr) c.102247C>T (p.His34083Tyr) c.99289C>T (p.His33097Tyr) c.80905C>T (p.His26969Tyr) c.102400C>T (p.His34134Tyr) c.102397C>T (p.His34133Tyr) c.101830C>T (p.His33944Tyr) c.99172C>T (p.His33058Tyr) c.99091C>T (p.His33031Tyr) c.80854C>T (p.His26952Tyr) c.70708C>T (p.His23570Tyr) | |
2 | g.178527029G>C | CA349398169 | TTN,TTN-AS1 | c.100255C>G (p.His33419Asp) c.81340C>G (p.His27114Asp) c.81139C>G (p.His27047Asp) c.80764C>G (p.His26922Asp) c.107959C>G (p.His35987Asp) c.103036C>G (p.His34346Asp) n.446+3393G>C n.219+3393G>C c.107056C>G (p.His35686Asp) c.80950C>G (p.His26984Asp) c.80809C>G (p.His26937Asp) c.106852C>G (p.His35618Asp) c.102250C>G (p.His34084Asp) c.102247C>G (p.His34083Asp) c.99289C>G (p.His33097Asp) c.80905C>G (p.His26969Asp) c.102400C>G (p.His34134Asp) c.102397C>G (p.His34133Asp) c.101830C>G (p.His33944Asp) c.99172C>G (p.His33058Asp) c.99091C>G (p.His33031Asp) c.80854C>G (p.His26952Asp) c.70708C>G (p.His23570Asp) | |
2 | g.178527029G>T | CA349398170 | TTN,TTN-AS1 | c.100255C>A (p.His33419Asn) c.81340C>A (p.His27114Asn) c.81139C>A (p.His27047Asn) c.80764C>A (p.His26922Asn) c.107959C>A (p.His35987Asn) c.103036C>A (p.His34346Asn) n.446+3393G>T n.219+3393G>T c.107056C>A (p.His35686Asn) c.80950C>A (p.His26984Asn) c.80809C>A (p.His26937Asn) c.106852C>A (p.His35618Asn) c.102250C>A (p.His34084Asn) c.102247C>A (p.His34083Asn) c.99289C>A (p.His33097Asn) c.80905C>A (p.His26969Asn) c.102400C>A (p.His34134Asn) c.102397C>A (p.His34133Asn) c.101830C>A (p.His33944Asn) c.99172C>A (p.His33058Asn) c.99091C>A (p.His33031Asn) c.80854C>A (p.His26952Asn) c.70708C>A (p.His23570Asn) | dbSNP gnomAD v4 |
2 | g.178527030T>A | CA430091460 | TTN,TTN-AS1 | c.100254A>T (p.Ile33418=) c.81339A>T (p.Ile27113=) c.81138A>T (p.Ile27046=) c.80763A>T (p.Ile26921=) c.107958A>T (p.Ile35986=) c.103035A>T (p.Ile34345=) n.446+3394T>A n.219+3394T>A c.107055A>T (p.Ile35685=) c.80949A>T (p.Ile26983=) c.80808A>T (p.Ile26936=) c.106851A>T (p.Ile35617=) c.102249A>T (p.Ile34083=) c.102246A>T (p.Ile34082=) c.99288A>T (p.Ile33096=) c.80904A>T (p.Ile26968=) c.102399A>T (p.Ile34133=) c.102396A>T (p.Ile34132=) c.101829A>T (p.Ile33943=) c.99171A>T (p.Ile33057=) c.99090A>T (p.Ile33030=) c.80853A>T (p.Ile26951=) c.70707A>T (p.Ile23569=) | |
2 | g.178527030T>C | CA349398171 | TTN,TTN-AS1 | c.100254A>G (p.Ile33418Met) c.81339A>G (p.Ile27113Met) c.81138A>G (p.Ile27046Met) c.80763A>G (p.Ile26921Met) c.107958A>G (p.Ile35986Met) c.103035A>G (p.Ile34345Met) n.446+3394T>C n.219+3394T>C c.107055A>G (p.Ile35685Met) c.80949A>G (p.Ile26983Met) c.80808A>G (p.Ile26936Met) c.106851A>G (p.Ile35617Met) c.102249A>G (p.Ile34083Met) c.102246A>G (p.Ile34082Met) c.99288A>G (p.Ile33096Met) c.80904A>G (p.Ile26968Met) c.102399A>G (p.Ile34133Met) c.102396A>G (p.Ile34132Met) c.101829A>G (p.Ile33943Met) c.99171A>G (p.Ile33057Met) c.99090A>G (p.Ile33030Met) c.80853A>G (p.Ile26951Met) c.70707A>G (p.Ile23569Met) | gnomAD v4 |
2 | g.178527030T>G | CA430091461 | TTN,TTN-AS1 | c.100254A>C (p.Ile33418=) c.81339A>C (p.Ile27113=) c.81138A>C (p.Ile27046=) c.80763A>C (p.Ile26921=) c.107958A>C (p.Ile35986=) c.103035A>C (p.Ile34345=) n.446+3394T>G n.219+3394T>G c.107055A>C (p.Ile35685=) c.80949A>C (p.Ile26983=) c.80808A>C (p.Ile26936=) c.106851A>C (p.Ile35617=) c.102249A>C (p.Ile34083=) c.102246A>C (p.Ile34082=) c.99288A>C (p.Ile33096=) c.80904A>C (p.Ile26968=) c.102399A>C (p.Ile34133=) c.102396A>C (p.Ile34132=) c.101829A>C (p.Ile33943=) c.99171A>C (p.Ile33057=) c.99090A>C (p.Ile33030=) c.80853A>C (p.Ile26951=) c.70707A>C (p.Ile23569=) | |
2 | g.178527031A= | CA1310514276 | TTN,TTN-AS1 | c.100253T= (p.Ile33418=) c.81338T= (p.Ile27113=) c.81137T= (p.Ile27046=) c.80762T= (p.Ile26921=) c.107957T= (p.Ile35986=) c.103034T= (p.Ile34345=) n.446+3395A= n.219+3395A= c.107054T= (p.Ile35685=) c.80948T= (p.Ile26983=) c.80807T= (p.Ile26936=) c.106850T= (p.Ile35617=) c.102248T= (p.Ile34083=) c.102245T= (p.Ile34082=) c.99287T= (p.Ile33096=) c.80903T= (p.Ile26968=) c.102398T= (p.Ile34133=) c.102395T= (p.Ile34132=) c.101828T= (p.Ile33943=) c.99170T= (p.Ile33057=) c.99089T= (p.Ile33030=) c.80852T= (p.Ile26951=) c.70706T= (p.Ile23569=) | |
2 | g.178527031A>C | CA349398172 | TTN,TTN-AS1 | c.100253T>G (p.Ile33418Arg) c.81338T>G (p.Ile27113Arg) c.81137T>G (p.Ile27046Arg) c.80762T>G (p.Ile26921Arg) c.107957T>G (p.Ile35986Arg) c.103034T>G (p.Ile34345Arg) n.446+3395A>C n.219+3395A>C c.107054T>G (p.Ile35685Arg) c.80948T>G (p.Ile26983Arg) c.80807T>G (p.Ile26936Arg) c.106850T>G (p.Ile35617Arg) c.102248T>G (p.Ile34083Arg) c.102245T>G (p.Ile34082Arg) c.99287T>G (p.Ile33096Arg) c.80903T>G (p.Ile26968Arg) c.102398T>G (p.Ile34133Arg) c.102395T>G (p.Ile34132Arg) c.101828T>G (p.Ile33943Arg) c.99170T>G (p.Ile33057Arg) c.99089T>G (p.Ile33030Arg) c.80852T>G (p.Ile26951Arg) c.70706T>G (p.Ile23569Arg) | |
2 | g.178527031A>G | CA16610284 | TTN,TTN-AS1 | c.100253T>C (p.Ile33418Thr) c.81338T>C (p.Ile27113Thr) c.81137T>C (p.Ile27046Thr) c.80762T>C (p.Ile26921Thr) c.107957T>C (p.Ile35986Thr) c.103034T>C (p.Ile34345Thr) n.446+3395A>G n.219+3395A>G c.107054T>C (p.Ile35685Thr) c.80948T>C (p.Ile26983Thr) c.80807T>C (p.Ile26936Thr) c.106850T>C (p.Ile35617Thr) c.102248T>C (p.Ile34083Thr) c.102245T>C (p.Ile34082Thr) c.99287T>C (p.Ile33096Thr) c.80903T>C (p.Ile26968Thr) c.102398T>C (p.Ile34133Thr) c.102395T>C (p.Ile34132Thr) c.101828T>C (p.Ile33943Thr) c.99170T>C (p.Ile33057Thr) c.99089T>C (p.Ile33030Thr) c.80852T>C (p.Ile26951Thr) c.70706T>C (p.Ile23569Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178527031A>T | CA349398173 | TTN,TTN-AS1 | c.100253T>A (p.Ile33418Lys) c.81338T>A (p.Ile27113Lys) c.81137T>A (p.Ile27046Lys) c.80762T>A (p.Ile26921Lys) c.107957T>A (p.Ile35986Lys) c.103034T>A (p.Ile34345Lys) n.446+3395A>T n.219+3395A>T c.107054T>A (p.Ile35685Lys) c.80948T>A (p.Ile26983Lys) c.80807T>A (p.Ile26936Lys) c.106850T>A (p.Ile35617Lys) c.102248T>A (p.Ile34083Lys) c.102245T>A (p.Ile34082Lys) c.99287T>A (p.Ile33096Lys) c.80903T>A (p.Ile26968Lys) c.102398T>A (p.Ile34133Lys) c.102395T>A (p.Ile34132Lys) c.101828T>A (p.Ile33943Lys) c.99170T>A (p.Ile33057Lys) c.99089T>A (p.Ile33030Lys) c.80852T>A (p.Ile26951Lys) c.70706T>A (p.Ile23569Lys) | |
2 | g.178527032T>A | CA349398175 | TTN,TTN-AS1 | c.100252A>T (p.Ile33418Leu) c.81337A>T (p.Ile27113Leu) c.81136A>T (p.Ile27046Leu) c.80761A>T (p.Ile26921Leu) c.107956A>T (p.Ile35986Leu) c.103033A>T (p.Ile34345Leu) n.446+3396T>A n.219+3396T>A c.107053A>T (p.Ile35685Leu) c.80947A>T (p.Ile26983Leu) c.80806A>T (p.Ile26936Leu) c.106849A>T (p.Ile35617Leu) c.102247A>T (p.Ile34083Leu) c.102244A>T (p.Ile34082Leu) c.99286A>T (p.Ile33096Leu) c.80902A>T (p.Ile26968Leu) c.102397A>T (p.Ile34133Leu) c.102394A>T (p.Ile34132Leu) c.101827A>T (p.Ile33943Leu) c.99169A>T (p.Ile33057Leu) c.99088A>T (p.Ile33030Leu) c.80851A>T (p.Ile26951Leu) c.70705A>T (p.Ile23569Leu) | |
2 | g.178527032T>C | CA16621775 | TTN,TTN-AS1 | c.100252A>G (p.Ile33418Val) c.81337A>G (p.Ile27113Val) c.81136A>G (p.Ile27046Val) c.80761A>G (p.Ile26921Val) c.107956A>G (p.Ile35986Val) c.103033A>G (p.Ile34345Val) n.446+3396T>C n.219+3396T>C c.107053A>G (p.Ile35685Val) c.80947A>G (p.Ile26983Val) c.80806A>G (p.Ile26936Val) c.106849A>G (p.Ile35617Val) c.102247A>G (p.Ile34083Val) c.102244A>G (p.Ile34082Val) c.99286A>G (p.Ile33096Val) c.80902A>G (p.Ile26968Val) c.102397A>G (p.Ile34133Val) c.102394A>G (p.Ile34132Val) c.101827A>G (p.Ile33943Val) c.99169A>G (p.Ile33057Val) c.99088A>G (p.Ile33030Val) c.80851A>G (p.Ile26951Val) c.70705A>G (p.Ile23569Val) | ClinVar dbSNP |
2 | g.178527032T>G | CA349398174 | TTN,TTN-AS1 | c.100252A>C (p.Ile33418Leu) c.81337A>C (p.Ile27113Leu) c.81136A>C (p.Ile27046Leu) c.80761A>C (p.Ile26921Leu) c.107956A>C (p.Ile35986Leu) c.103033A>C (p.Ile34345Leu) n.446+3396T>G n.219+3396T>G c.107053A>C (p.Ile35685Leu) c.80947A>C (p.Ile26983Leu) c.80806A>C (p.Ile26936Leu) c.106849A>C (p.Ile35617Leu) c.102247A>C (p.Ile34083Leu) c.102244A>C (p.Ile34082Leu) c.99286A>C (p.Ile33096Leu) c.80902A>C (p.Ile26968Leu) c.102397A>C (p.Ile34133Leu) c.102394A>C (p.Ile34132Leu) c.101827A>C (p.Ile33943Leu) c.99169A>C (p.Ile33057Leu) c.99088A>C (p.Ile33030Leu) c.80851A>C (p.Ile26951Leu) c.70705A>C (p.Ile23569Leu) | |
2 | g.178527032T= | CA1310514277 | TTN,TTN-AS1 | c.100252A= (p.Ile33418=) c.81337A= (p.Ile27113=) c.81136A= (p.Ile27046=) c.80761A= (p.Ile26921=) c.107956A= (p.Ile35986=) c.103033A= (p.Ile34345=) n.446+3396T= n.219+3396T= c.107053A= (p.Ile35685=) c.80947A= (p.Ile26983=) c.80806A= (p.Ile26936=) c.106849A= (p.Ile35617=) c.102247A= (p.Ile34083=) c.102244A= (p.Ile34082=) c.99286A= (p.Ile33096=) c.80902A= (p.Ile26968=) c.102397A= (p.Ile34133=) c.102394A= (p.Ile34132=) c.101827A= (p.Ile33943=) c.99169A= (p.Ile33057=) c.99088A= (p.Ile33030=) c.80851A= (p.Ile26951=) c.70705A= (p.Ile23569=) |