Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178526932T>CCA761281392TTN,TTN-AS1c.*80A>G (n.*80A>G)
n.446+3296T>C
n.219+3296T>C
dbSNP gnomAD v4
2g.178526932T=CA1310514226TTN,TTN-AS1c.*80A= (n.*80A=)
n.446+3296T=
n.219+3296T=
2g.178526933A>TCA2577170114TTN,TTN-AS1c.*79T>A (n.*79T>A)
n.446+3297A>T
n.219+3297A>T
gnomAD v4
2g.178526933_178526936delCA2753331008TTN,TTN-AS1c.*76_*79del (n.*76_*79del)
n.446+3297_446+3300del
n.219+3297_219+3300del
2g.178526934C>ACA2662121327TTN,TTN-AS1c.*78G>T (n.*78G>T)
n.446+3298C>A
n.219+3298C>A
gnomAD v4
2g.178526934C>GCA2662121330TTN,TTN-AS1c.*78G>C (n.*78G>C)
n.446+3298C>G
n.219+3298C>G
gnomAD v4
2g.178526934C>TCA2577170115TTN,TTN-AS1c.*78G>A (n.*78G>A)
n.446+3298C>T
n.219+3298C>T
gnomAD v4
2g.178526935A>GCA2662121332TTN,TTN-AS1c.*77T>C (n.*77T>C)
n.446+3299A>G
n.219+3299A>G
gnomAD v4
2g.178526936G>ACA2662121334TTN,TTN-AS1c.*76C>T (n.*76C>T)
n.446+3300G>A
n.219+3300G>A
gnomAD v4
2g.178526936G>TCA2662121337TTN,TTN-AS1c.*76C>A (n.*76C>A)
n.446+3300G>T
n.219+3300G>T
gnomAD v4
2g.178526937T>ACA2662121338TTN,TTN-AS1c.*75A>T (n.*75A>T)
n.446+3301T>A
n.219+3301T>A
dbSNP gnomAD v4
2g.178526937T>GCA2662121339TTN,TTN-AS1c.*75A>C (n.*75A>C)
n.446+3301T>G
n.219+3301T>G
gnomAD v4
2g.178526938T>GCA2753331009TTN,TTN-AS1c.*74A>C (n.*74A>C)
n.446+3302T>G
n.219+3302T>G
2g.178526939C>ACA2662121340TTN,TTN-AS1c.*73G>T (n.*73G>T)
n.446+3303C>A
n.219+3303C>A
gnomAD v4
2g.178526939C>TCA2662121341TTN,TTN-AS1c.*73G>A (n.*73G>A)
n.446+3303C>T
n.219+3303C>T
gnomAD v4
2g.178526939_178526946delCA2753331010TTN,TTN-AS1c.*66_*73del (n.*66_*73del)
n.446+3303_446+3310del
n.219+3303_219+3310del
2g.178526943_178526946delCA2662121344TTN,TTN-AS1c.*69_*72del (n.*69_*72del)
n.446+3307_446+3310del
n.219+3307_219+3310del
gnomAD v4
2g.178526940_178526947dupCA2701300868TTN,TTN-AS1c.*65_*72dup (n.*65_*72dup)
n.446+3304_446+3311dup
n.219+3304_219+3311dup
dbSNP
2g.178526941G>ACA761281394TTN,TTN-AS1c.*71C>T (n.*71C>T)
n.446+3305G>A
n.219+3305G>A
dbSNP gnomAD v3 gnomAD v4
2g.178526941G=CA1310514227TTN,TTN-AS1c.*71C= (n.*71C=)
n.446+3305G=
n.219+3305G=
2g.178526941G>TCA2662121352TTN,TTN-AS1c.*71C>A (n.*71C>A)
n.446+3305G>T
n.219+3305G>T
gnomAD v4
2g.178526942A=CA1310514228TTN,TTN-AS1c.*70T= (n.*70T=)
n.446+3306A=
n.219+3306A=
2g.178526942A>CCA2662121353TTN,TTN-AS1c.*70T>G (n.*70T>G)
n.446+3306A>C
n.219+3306A>C
gnomAD v4
2g.178526942A>GCA761281396TTN,TTN-AS1c.*70T>C (n.*70T>C)
n.446+3306A>G
n.219+3306A>G
dbSNP gnomAD v3 gnomAD v4
2g.178526944A>GCA2662121355TTN,TTN-AS1c.*68T>C (n.*68T>C)
n.446+3308A>G
n.219+3308A>G
gnomAD v4
2g.178526945G>ACA2662121357TTN,TTN-AS1c.*67C>T (n.*67C>T)
n.446+3309G>A
n.219+3309G>A
gnomAD v4
2g.178526945G=CA1310514229TTN,TTN-AS1c.*67C= (n.*67C=)
n.446+3309G=
n.219+3309G=
2g.178526945G>TCA2662121359TTN,TTN-AS1c.*67C>A (n.*67C>A)
n.446+3309G>T
n.219+3309G>T
gnomAD v4
2g.178526946_178526947dupCA1310514230TTN,TTN-AS1c.*65_*66dup (n.*65_*66dup)
n.446+3310_446+3311dup
n.219+3310_219+3311dup
dbSNP
2g.178526947T>CCA60948474TTN,TTN-AS1c.*65A>G (n.*65A>G)
n.446+3311T>C
n.219+3311T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178526947T=CA1310514231TTN,TTN-AS1c.*65A= (n.*65A=)
n.446+3311T=
n.219+3311T=
2g.178526948T>ACA2662121360TTN,TTN-AS1c.*64A>T (n.*64A>T)
n.446+3312T>A
n.219+3312T>A
gnomAD v4
2g.178526948T>CCA2662121363TTN,TTN-AS1c.*64A>G (n.*64A>G)
n.446+3312T>C
n.219+3312T>C
gnomAD v4
2g.178526948T>GCA60948475TTN,TTN-AS1c.*64A>C (n.*64A>C)
n.446+3312T>G
n.219+3312T>G
dbSNP gnomAD v3 gnomAD v4
2g.178526948T=CA1310514232TTN,TTN-AS1c.*64A= (n.*64A=)
n.446+3312T=
n.219+3312T=
2g.178526949A=CA1310514233TTN,TTN-AS1c.*63T= (n.*63T=)
n.446+3313A=
n.219+3313A=
2g.178526949A>CCA1039711018TTN,TTN-AS1c.*63T>G (n.*63T>G)
n.446+3313A>C
n.219+3313A>C
dbSNP gnomAD v3 gnomAD v4
2g.178526949A>GCA761281398TTN,TTN-AS1c.*63T>C (n.*63T>C)
n.446+3313A>G
n.219+3313A>G
dbSNP
2g.178526950G>ACA1310514235TTN,TTN-AS1c.*62C>T (n.*62C>T)
n.446+3314G>A
n.219+3314G>A
dbSNP gnomAD v4
2g.178526950G=CA1310514234TTN,TTN-AS1c.*62C= (n.*62C=)
n.446+3314G=
n.219+3314G=
2g.178526950G>TCA2662121365TTN,TTN-AS1c.*62C>A (n.*62C>A)
n.446+3314G>T
n.219+3314G>T
gnomAD v4
2g.178526951T>ACA2662121368TTN,TTN-AS1c.*61A>T (n.*61A>T)
n.446+3315T>A
n.219+3315T>A
gnomAD v4
2g.178526952C>ACA2662121371TTN,TTN-AS1c.*60G>T (n.*60G>T)
n.446+3316C>A
n.219+3316C>A
gnomAD v4
2g.178526952C=CA1310514236TTN,TTN-AS1c.*60G= (n.*60G=)
n.446+3316C=
n.219+3316C=
2g.178526952C>TCA60948481TTN,TTN-AS1c.*60G>A (n.*60G>A)
n.446+3316C>T
n.219+3316C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178526953C>ACA2581819899TTN,TTN-AS1c.*59G>T (n.*59G>T)
n.446+3317C>A
n.219+3317C>A
gnomAD v4
2g.178526953C=CA1310514237TTN,TTN-AS1c.*59G= (n.*59G=)
n.446+3317C=
n.219+3317C=
2g.178526953C>GCA1039711020TTN,TTN-AS1c.*59G>C (n.*59G>C)
n.446+3317C>G
n.219+3317C>G
dbSNP gnomAD v3 gnomAD v4
2g.178526953C>TCA10612995TTN,TTN-AS1c.*59G>A (n.*59G>A)
n.446+3317C>T
n.219+3317C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178526954G>ACA60948482TTN,TTN-AS1c.*58C>T (n.*58C>T)
n.446+3318G>A
n.219+3318G>A
dbSNP gnomAD v3 gnomAD v4
2g.178526954G>CCA2662121378TTN,TTN-AS1c.*58C>G (n.*58C>G)
n.446+3318G>C
n.219+3318G>C
gnomAD v4
2g.178526954G=CA1310514238TTN,TTN-AS1c.*58C= (n.*58C=)
n.446+3318G=
n.219+3318G=
2g.178526954G>TCA2662121382TTN,TTN-AS1c.*58C>A (n.*58C>A)
n.446+3318G>T
n.219+3318G>T
gnomAD v4
2g.178526956G>TCA2662121384TTN,TTN-AS1c.*56C>A (n.*56C>A)
n.446+3320G>T
n.219+3320G>T
gnomAD v4
2g.178526957T>CCA2662121385TTN,TTN-AS1c.*55A>G (n.*55A>G)
n.446+3321T>C
n.219+3321T>C
gnomAD v4
2g.178526958G>ACA2662121386TTN,TTN-AS1c.*54C>T (n.*54C>T)
n.446+3322G>A
n.219+3322G>A
gnomAD v4
2g.178526958G>TCA2662121388TTN,TTN-AS1c.*54C>A (n.*54C>A)
n.446+3322G>T
n.219+3322G>T
gnomAD v4
2g.178526959A>TCA2662121391TTN,TTN-AS1c.*53T>A (n.*53T>A)
n.446+3323A>T
n.219+3323A>T
gnomAD v4
2g.178526961A=CA1310514239TTN,TTN-AS1c.*51T= (n.*51T=)
n.446+3325A=
n.219+3325A=
2g.178526961A>CCA761281403TTN,TTN-AS1c.*51T>G (n.*51T>G)
n.446+3325A>C
n.219+3325A>C
dbSNP
2g.178526961A>GCA2662121393TTN,TTN-AS1c.*51T>C (n.*51T>C)
n.446+3325A>G
n.219+3325A>G
gnomAD v4
2g.178526961A>TCA2701048225TTN,TTN-AS1c.*51T>A (n.*51T>A)
n.446+3325A>T
n.219+3325A>T
dbSNP
2g.178526962C>ACA2662121395TTN,TTN-AS1c.*50G>T (n.*50G>T)
n.446+3326C>A
n.219+3326C>A
gnomAD v4
2g.178526962C=CA1310514240TTN,TTN-AS1c.*50G= (n.*50G=)
n.446+3326C=
n.219+3326C=
2g.178526962C>TCA1984838TTN,TTN-AS1c.*50G>A (n.*50G>A)
n.446+3326C>T
n.219+3326C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178526963G>ACA1984839TTN,TTN-AS1c.*49C>T (n.*49C>T)
n.446+3327G>A
n.219+3327G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178526963G=CA1310514241TTN,TTN-AS1c.*49C= (n.*49C=)
n.446+3327G=
n.219+3327G=
2g.178526963G>TCA2662121398TTN,TTN-AS1c.*49C>A (n.*49C>A)
n.446+3327G>T
n.219+3327G>T
gnomAD v4
2g.178526965T>CCA1310514243TTN,TTN-AS1c.*47A>G (n.*47A>G)
n.446+3329T>C
n.219+3329T>C
dbSNP
2g.178526965T=CA1310514242TTN,TTN-AS1c.*47A= (n.*47A=)
n.446+3329T=
n.219+3329T=
2g.178526967G>TCA2662121399TTN,TTN-AS1c.*45C>A (n.*45C>A)
n.446+3331G>T
n.219+3331G>T
gnomAD v4
2g.178526968C>ACA2662121401TTN,TTN-AS1c.*44G>T (n.*44G>T)
n.446+3332C>A
n.219+3332C>A
gnomAD v4
2g.178526968C=CA1310514244TTN,TTN-AS1c.*44G= (n.*44G=)
n.446+3332C=
n.219+3332C=
2g.178526968C>GCA1984841TTN,TTN-AS1c.*44G>C (n.*44G>C)
n.446+3332C>G
n.219+3332C>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.178526968C>TCA1984840TTN,TTN-AS1c.*44G>A (n.*44G>A)
n.446+3332C>T
n.219+3332C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178526968_178526969insTAGTCA2529114233TTN,TTN-AS1c.*43_*44insACTA (n.*43_*44insACTA)
n.446+3332_446+3333insTAGT
n.219+3332_219+3333insTAGT
2g.178526969G>ACA1984842TTN,TTN-AS1c.*43C>T (n.*43C>T)
n.446+3333G>A
n.219+3333G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178526969G=CA1310514245TTN,TTN-AS1c.*43C= (n.*43C=)
n.446+3333G=
n.219+3333G=
2g.178526969G>TCA2662121406TTN,TTN-AS1c.*43C>A (n.*43C>A)
n.446+3333G>T
n.219+3333G>T
gnomAD v4
2g.178526970A>TCA2701300875TTN,TTN-AS1c.*42T>A (n.*42T>A)
n.446+3334A>T
n.219+3334A>T
dbSNP
2g.178526971A>CCA2511397800TTN,TTN-AS1c.*41T>G (n.*41T>G)
n.446+3335A>C
n.219+3335A>C
2g.178526972A>CCA2662121409TTN,TTN-AS1c.*40T>G (n.*40T>G)
n.446+3336A>C
n.219+3336A>C
gnomAD v4
2g.178526973A>GCA2701300879TTN,TTN-AS1c.*39T>C (n.*39T>C)
n.446+3337A>G
n.219+3337A>G
dbSNP
2g.178526973A>TCA2523804206TTN,TTN-AS1c.*39T>A (n.*39T>A)
n.446+3337A>T
n.219+3337A>T
2g.178526976dupCA2662121411TTN,TTN-AS1c.*37dup (n.*37dup)
n.446+3340dup
n.219+3340dup
gnomAD v4
2g.178526976T>CCA2662121412TTN,TTN-AS1c.*36A>G (n.*36A>G)
n.446+3340T>C
n.219+3340T>C
gnomAD v4
2g.178526979G>CCA1984843TTN,TTN-AS1c.*33C>G (n.*33C>G)
n.446+3343G>C
n.219+3343G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178526979G=CA1310514246TTN,TTN-AS1c.*33C= (n.*33C=)
n.446+3343G=
n.219+3343G=
2g.178526981A>GCA2662121414TTN,TTN-AS1c.*31T>C (n.*31T>C)
n.446+3345A>G
n.219+3345A>G
gnomAD v4
2g.178526982T>CCA2577170120TTN,TTN-AS1c.*30A>G (n.*30A>G)
n.446+3346T>C
n.219+3346T>C
gnomAD v4
2g.178526982T>GCA1984844TTN,TTN-AS1c.*30A>C (n.*30A>C)
n.446+3346T>G
n.219+3346T>G
dbSNP ExAC gnomAD v2
2g.178526982T=CA1310514247TTN,TTN-AS1c.*30A= (n.*30A=)
n.446+3346T=
n.219+3346T=
2g.178526983G>TCA2577170122TTN,TTN-AS1c.*29C>A (n.*29C>A)
n.446+3347G>T
n.219+3347G>T
gnomAD v4
2g.178526984A>GCA2662121416TTN,TTN-AS1c.*28T>C (n.*28T>C)
n.446+3348A>G
n.219+3348A>G
gnomAD v4
2g.178526985G>ACA1984845TTN,TTN-AS1c.*27C>T (n.*27C>T)
n.446+3349G>A
n.219+3349G>A
dbSNP ExAC gnomAD v2
2g.178526985G>CCA2662121417TTN,TTN-AS1c.*27C>G (n.*27C>G)
n.446+3349G>C
n.219+3349G>C
gnomAD v4
2g.178526985G=CA1310514248TTN,TTN-AS1c.*27C= (n.*27C=)
n.446+3349G=
n.219+3349G=
2g.178526985G>TCA2662121418TTN,TTN-AS1c.*27C>A (n.*27C>A)
n.446+3349G>T
n.219+3349G>T
gnomAD v4
2g.178526986T>CCA1984846TTN,TTN-AS1c.*26A>G (n.*26A>G)
n.446+3350T>C
n.219+3350T>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.178526986T>GCA2662121419TTN,TTN-AS1c.*26A>C (n.*26A>C)
n.446+3350T>G
n.219+3350T>G
gnomAD v4
2g.178526986T=CA1310514249TTN,TTN-AS1c.*26A= (n.*26A=)
n.446+3350T=
n.219+3350T=
2g.178526987G>ACA1984847TTN,TTN-AS1c.*25C>T (n.*25C>T)
n.446+3351G>A
n.219+3351G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178526987G>CCA2701020573TTN,TTN-AS1c.*25C>G (n.*25C>G)
n.446+3351G>C
n.219+3351G>C
dbSNP
2g.178526987G=CA1310514250TTN,TTN-AS1c.*25C= (n.*25C=)
n.446+3351G=
n.219+3351G=
2g.178526989delCA2701300881TTN,TTN-AS1c.*23del (n.*23del)
n.446+3353del
n.219+3353del
dbSNP
2g.178526990G>TCA2662121423TTN,TTN-AS1c.*22C>A (n.*22C>A)
n.446+3354G>T
n.219+3354G>T
gnomAD v4
2g.178526991A=CA1310514251TTN,TTN-AS1c.*21T= (n.*21T=)
n.446+3355A=
n.219+3355A=
2g.178526991A>GCA761281414TTN,TTN-AS1c.*21T>C (n.*21T>C)
n.446+3355A>G
n.219+3355A>G
dbSNP gnomAD v4
2g.178526992G>ACA1984848TTN,TTN-AS1c.*20C>T (n.*20C>T)
n.446+3356G>A
n.219+3356G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178526992G=CA1310514252TTN,TTN-AS1c.*20C= (n.*20C=)
n.446+3356G=
n.219+3356G=
2g.178526993T>CCA2662121428TTN,TTN-AS1c.*19A>G (n.*19A>G)
n.446+3357T>C
n.219+3357T>C
gnomAD v4
2g.178526994A>GCA2701300934TTN,TTN-AS1c.*18T>C (n.*18T>C)
n.446+3358A>G
n.219+3358A>G
dbSNP
2g.178526996A=CA1310514253TTN,TTN-AS1c.*16T= (n.*16T=)
n.446+3360A=
n.219+3360A=
2g.178526996A>GCA1039711022TTN,TTN-AS1c.*16T>C (n.*16T>C)
n.446+3360A>G
n.219+3360A>G
dbSNP gnomAD v3 gnomAD v4
2g.178526997A=CA1310514254TTN,TTN-AS1c.*15T= (n.*15T=)
n.446+3361A=
n.219+3361A=
2g.178526997A>TCA1310514255TTN,TTN-AS1c.*15T>A (n.*15T>A)
n.446+3361A>T
n.219+3361A>T
dbSNP gnomAD v4
2g.178526998G>TCA2531553648TTN,TTN-AS1c.*14C>A (n.*14C>A)
n.446+3362G>T
n.219+3362G>T
2g.178526999G>ACA2701024526TTN,TTN-AS1c.*13C>T (n.*13C>T)
n.446+3363G>A
n.219+3363G>A
dbSNP
2g.178526999G=CA1310514256TTN,TTN-AS1c.*13C= (n.*13C=)
n.446+3363G=
n.219+3363G=
2g.178526999G>TCA1984849TTN,TTN-AS1c.*13C>A (n.*13C>A)
n.446+3363G>T
n.219+3363G>T
dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527000G>ACA2662121432TTN,TTN-AS1c.*12C>T (n.*12C>T)
n.446+3364G>A
n.219+3364G>A
gnomAD v4
2g.178527001C=CA1310514257TTN,TTN-AS1c.*11G= (n.*11G=)
n.446+3365C=
n.219+3365C=
2g.178527001C>TCA1039711023TTN,TTN-AS1c.*11G>A (n.*11G>A)
n.446+3365C>T
n.219+3365C>T
dbSNP gnomAD v3 gnomAD v4
2g.178527002A=CA1310514258TTN,TTN-AS1c.*10T= (n.*10T=)
n.446+3366A=
n.219+3366A=
2g.178527002A>GCA538089810TTN,TTN-AS1c.*10T>C (n.*10T>C)
n.446+3366A>G
n.219+3366A>G
dbSNP gnomAD v2 gnomAD v4
2g.178527002A>TCA1310514259TTN,TTN-AS1c.*10T>A (n.*10T>A)
n.446+3366A>T
n.219+3366A>T
dbSNP
2g.178527003C=CA1310514260TTN,TTN-AS1c.*9G= (n.*9G=)
n.446+3367C=
n.219+3367C=
2g.178527003C>TCA1310514261TTN,TTN-AS1c.*9G>A (n.*9G>A)
n.446+3367C>T
n.219+3367C>T
dbSNP gnomAD v4
2g.178527004A=CA1310514262TTN,TTN-AS1c.*8T= (n.*8T=)
n.446+3368A=
n.219+3368A=
2g.178527004A>CCA1039711024TTN,TTN-AS1c.*8T>G (n.*8T>G)
n.446+3368A>C
n.219+3368A>C
dbSNP gnomAD v3 gnomAD v4
2g.178527004A>TCA2577170129TTN,TTN-AS1c.*8T>A (n.*8T>A)
n.446+3368A>T
n.219+3368A>T
2g.178527005G>ACA1984850TTN,TTN-AS1c.*7C>T (n.*7C>T)
n.446+3369G>A
n.219+3369G>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527005G=CA1310514263TTN,TTN-AS1c.*7C= (n.*7C=)
n.446+3369G=
n.219+3369G=
2g.178527006G>ACA538089811TTN,TTN-AS1c.*6C>T (n.*6C>T)
n.446+3370G>A
n.219+3370G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178527006G>CCA2607822199TTN,TTN-AS1c.*6C>G (n.*6C>G)
n.446+3370G>C
n.219+3370G>C
dbSNP gnomAD v4
2g.178527006G=CA1310514264TTN,TTN-AS1c.*6C= (n.*6C=)
n.446+3370G=
n.219+3370G=
2g.178527006G>TCA1984851TTN,TTN-AS1c.*6C>A (n.*6C>A)
n.446+3370G>T
n.219+3370G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527007C>ACA2662121441TTN,TTN-AS1c.*5G>T (n.*5G>T)
n.446+3371C>A
n.219+3371C>A
gnomAD v4
2g.178527007C=CA1310514265TTN,TTN-AS1c.*5G= (n.*5G=)
n.446+3371C=
n.219+3371C=
2g.178527007C>TCA761281427TTN,TTN-AS1c.*5G>A (n.*5G>A)
n.446+3371C>T
n.219+3371C>T
dbSNP
2g.178527009C=CA1310514266TTN,TTN-AS1c.*3G= (n.*3G=)
n.446+3373C=
n.219+3373C=
2g.178527009C>GCA2662121442TTN,TTN-AS1c.*3G>C (n.*3G>C)
n.446+3373C>G
n.219+3373C>G
gnomAD v4
2g.178527009C>TCA538089813TTN,TTN-AS1c.*3G>A (n.*3G>A)
n.446+3373C>T
n.219+3373C>T
dbSNP gnomAD v2 gnomAD v4
2g.178527011C>ACA761281428TTN,TTN-AS1c.*1G>T (n.*1G>T)
n.446+3375C>A
n.219+3375C>A
dbSNP
2g.178527011C=CA1310514267TTN,TTN-AS1c.*1G= (n.*1G=)
n.446+3375C=
n.219+3375C=
2g.178527011C>GCA538089815TTN,TTN-AS1c.*1G>C (n.*1G>C)
n.446+3375C>G
n.219+3375C>G
dbSNP gnomAD v2 gnomAD v4
2g.178527012T>ACA349398134TTN,TTN-AS1c.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)
2g.178527012T>CCA1984852TTN,TTN-AS1c.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
2g.178527012T>GCA349398135TTN,TTN-AS1c.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)
2g.178527012T=CA1310514268TTN,TTN-AS1c.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=)
2g.178527013T>ACA349398136TTN,TTN-AS1c.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)
2g.178527013T>CCA430091448TTN,TTN-AS1c.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
2g.178527013T>GCA349398137TTN,TTN-AS1c.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)
2g.178527014A=CA1310514269TTN,TTN-AS1c.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=)
2g.178527014A>CCA349398138TTN,TTN-AS1c.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)
2g.178527014A>GCA349398139TTN,TTN-AS1c.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
2g.178527014A>TCA349398140TTN,TTN-AS1c.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)
2g.178527015A>CCA349398141TTN,TTN-AS1c.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)
2g.178527015A>GCA430091449TTN,TTN-AS1c.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=)
2g.178527015A>TCA430091450TTN,TTN-AS1c.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=)
2g.178527016A>CCA349398142TTN,TTN-AS1c.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)
2g.178527016A>GCA349398143TTN,TTN-AS1c.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)
2g.178527016A>TCA349398144TTN,TTN-AS1c.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)
2g.178527016_178527017delinsATCA1310514270TTN,TTN-AS1c.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=)
2g.178527017delCA237589TTN,TTN-AS1c.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
2g.178527017T>ACA349398146TTN,TTN-AS1c.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)
2g.178527017T>CCA349398147TTN,TTN-AS1c.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)
2g.178527017T>GCA349398145TTN,TTN-AS1c.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)
2g.178527018G>ACA430091451TTN,TTN-AS1c.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=)
2g.178527018G>CCA430091453TTN,TTN-AS1c.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=)
2g.178527018G>TCA430091452TTN,TTN-AS1c.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=)
2g.178527019delCA2586970709TTN,TTN-AS1c.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)
2g.178527019G>ACA349398150TTN,TTN-AS1c.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)
2g.178527019G>CCA349398148TTN,TTN-AS1c.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)
2g.178527019G>TCA349398149TTN,TTN-AS1c.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)
2g.178527020A>CCA349398151TTN,TTN-AS1c.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)
2g.178527020A>GCA349398152TTN,TTN-AS1c.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)
2g.178527020A>TCA349398153TTN,TTN-AS1c.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)
2g.178527021T>ACA430091454TTN,TTN-AS1c.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
2g.178527021T>CCA430091455TTN,TTN-AS1c.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=)
2g.178527021T>GCA430091456TTN,TTN-AS1c.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=)
2g.178527021T=CA1310514271TTN,TTN-AS1c.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=)
2g.178527022C>ACA349398155TTN,TTN-AS1c.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
2g.178527022C=CA1310514272TTN,TTN-AS1c.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=)
2g.178527022C>GCA349398154TTN,TTN-AS1c.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
2g.178527022C>TCA1984853TTN,TTN-AS1c.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
2g.178527023G>ACA309523TTN,TTN-AS1c.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
2g.178527023G>CCA349398156TTN,TTN-AS1c.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)
2g.178527023G=CA1310514273TTN,TTN-AS1c.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=)
2g.178527023G>TCA430091457TTN,TTN-AS1c.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
2g.178527024A>CCA349398157TTN,TTN-AS1c.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)
2g.178527024A>GCA430091458TTN,TTN-AS1c.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=)
2g.178527024A>TCA430091459TTN,TTN-AS1c.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=)
2g.178527025A>CCA349398158TTN,TTN-AS1c.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)
2g.178527025A>GCA349398159TTN,TTN-AS1c.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)
2g.178527025A>TCA349398160TTN,TTN-AS1c.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)
2g.178527027_178527028delCA2586970710TTN,TTN-AS1c.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)
2g.178527026T>ACA349398163TTN,TTN-AS1c.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)
2g.178527026T>CCA349398161TTN,TTN-AS1c.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
2g.178527026T>GCA349398162TTN,TTN-AS1c.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)
2g.178527027A=CA1310514274TTN,TTN-AS1c.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=)
2g.178527027A>CCA349398164TTN,TTN-AS1c.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)
2g.178527027A>GCA295714TTN,TTN-AS1c.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
2g.178527027A>TCA349398165TTN,TTN-AS1c.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)
2g.178527028T>ACA349398166TTN,TTN-AS1c.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)
2g.178527028T>CCA1984854TTN,TTN-AS1c.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
2g.178527028T>GCA349398167TTN,TTN-AS1c.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)
2g.178527028T=CA1310514275TTN,TTN-AS1c.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=)
2g.178527029G>ACA349398168TTN,TTN-AS1c.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)
2g.178527029G>CCA349398169TTN,TTN-AS1c.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)
2g.178527029G>TCA349398170TTN,TTN-AS1c.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
2g.178527030T>ACA430091460TTN,TTN-AS1c.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=)
2g.178527030T>CCA349398171TTN,TTN-AS1c.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
2g.178527030T>GCA430091461TTN,TTN-AS1c.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=)
2g.178527031A=CA1310514276TTN,TTN-AS1c.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=)
2g.178527031A>CCA349398172TTN,TTN-AS1c.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)
2g.178527031A>GCA16610284TTN,TTN-AS1c.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
2g.178527031A>TCA349398173TTN,TTN-AS1c.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)
2g.178527032T>ACA349398175TTN,TTN-AS1c.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)
2g.178527032T>CCA16621775TTN,TTN-AS1c.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
2g.178527032T>GCA349398174TTN,TTN-AS1c.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)
2g.178527032T=CA1310514277TTN,TTN-AS1c.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=)

Number of alleles fetched