Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178614547_178614551delinsTCTTACA1310549415TTN,TTN-AS1c.41259_41263delinsTAAGA (p.Ser13753=)
c.22344_22348delinsTAAGA (p.Ser7448=)
c.22143_22147delinsTAAGA (p.Ser7381=)
c.21768_21772delinsTAAGA (p.Ser7256=)
c.48963_48967delinsTAAGA (p.Ser16321=)
c.44040_44044delinsTAAGA (p.Ser14680=)
n.1295_1299delinsTCTTA
c.48060_48064delinsTAAGA (p.Ser16020=)
c.21954_21958delinsTAAGA (p.Ser7318=)
c.21813_21817delinsTAAGA (p.Ser7271=)
c.47856_47860delinsTAAGA (p.Ser15952=)
c.43254_43258delinsTAAGA (p.Ser14418=)
c.43251_43255delinsTAAGA (p.Ser14417=)
c.40293_40297delinsTAAGA (p.Ser13431=)
c.21909_21913delinsTAAGA (p.Ser7303=)
c.43404_43408delinsTAAGA (p.Ser14468=)
c.43401_43405delinsTAAGA (p.Ser14467=)
c.42834_42838delinsTAAGA (p.Ser14278=)
c.40176_40180delinsTAAGA (p.Ser13392=)
c.40095_40099delinsTAAGA (p.Ser13365=)
c.21858_21862delinsTAAGA (p.Ser7286=)
c.11712_11716delinsTAAGA (p.Ser3904=)
2g.178614550_178614553delCA658796071TTN,TTN-AS1c.41259_41262del (p.Ser13753ArgfsTer13)
c.22344_22347del (p.Ser7448ArgfsTer13)
c.22143_22146del (p.Ser7381ArgfsTer13)
c.21768_21771del (p.Ser7256ArgfsTer13)
c.48963_48966del (p.Ser16321ArgfsTer13)
c.44040_44043del (p.Ser14680ArgfsTer13)
n.1298_1301del
c.48060_48063del (p.Ser16020ArgfsTer13)
c.21954_21957del (p.Ser7318ArgfsTer13)
c.21813_21816del (p.Ser7271ArgfsTer13)
c.47856_47859del (p.Ser15952ArgfsTer13)
c.43254_43257del (p.Ser14418ArgfsTer13)
c.43251_43254del (p.Ser14417ArgfsTer13)
c.40293_40296del (p.Ser13431ArgfsTer13)
c.21909_21912del (p.Ser7303ArgfsTer13)
c.43404_43407del (p.Ser14468ArgfsTer13)
c.43401_43404del (p.Ser14467ArgfsTer13)
c.42834_42837del (p.Ser14278ArgfsTer13)
c.40176_40179del (p.Ser13392ArgfsTer13)
c.40095_40098del (p.Ser13365ArgfsTer13)
c.21858_21861del (p.Ser7286ArgfsTer13)
c.11712_11715del (p.Ser3904ArgfsTer13)
 ClinVar dbSNP
2g.178614550T>ACA349607252TTN,TTN-AS1c.41260A>T (p.Lys13754Ter)
c.22345A>T (p.Lys7449Ter)
c.22144A>T (p.Lys7382Ter)
c.21769A>T (p.Lys7257Ter)
c.48964A>T (p.Lys16322Ter)
c.44041A>T (p.Lys14681Ter)
n.1298T>A
c.48061A>T (p.Lys16021Ter)
c.21955A>T (p.Lys7319Ter)
c.21814A>T (p.Lys7272Ter)
c.47857A>T (p.Lys15953Ter)
c.43255A>T (p.Lys14419Ter)
c.43252A>T (p.Lys14418Ter)
c.40294A>T (p.Lys13432Ter)
c.21910A>T (p.Lys7304Ter)
c.43405A>T (p.Lys14469Ter)
c.43402A>T (p.Lys14468Ter)
c.42835A>T (p.Lys14279Ter)
c.40177A>T (p.Lys13393Ter)
c.40096A>T (p.Lys13366Ter)
c.21859A>T (p.Lys7287Ter)
c.11713A>T (p.Lys3905Ter)
2g.178614550T>CCA349607254TTN,TTN-AS1c.41260A>G (p.Lys13754Glu)
c.22345A>G (p.Lys7449Glu)
c.22144A>G (p.Lys7382Glu)
c.21769A>G (p.Lys7257Glu)
c.48964A>G (p.Lys16322Glu)
c.44041A>G (p.Lys14681Glu)
n.1298T>C
c.48061A>G (p.Lys16021Glu)
c.21955A>G (p.Lys7319Glu)
c.21814A>G (p.Lys7272Glu)
c.47857A>G (p.Lys15953Glu)
c.43255A>G (p.Lys14419Glu)
c.43252A>G (p.Lys14418Glu)
c.40294A>G (p.Lys13432Glu)
c.21910A>G (p.Lys7304Glu)
c.43405A>G (p.Lys14469Glu)
c.43402A>G (p.Lys14468Glu)
c.42835A>G (p.Lys14279Glu)
c.40177A>G (p.Lys13393Glu)
c.40096A>G (p.Lys13366Glu)
c.21859A>G (p.Lys7287Glu)
c.11713A>G (p.Lys3905Glu)
2g.178614550T>GCA349607250TTN,TTN-AS1c.41260A>C (p.Lys13754Gln)
c.22345A>C (p.Lys7449Gln)
c.22144A>C (p.Lys7382Gln)
c.21769A>C (p.Lys7257Gln)
c.48964A>C (p.Lys16322Gln)
c.44041A>C (p.Lys14681Gln)
n.1298T>G
c.48061A>C (p.Lys16021Gln)
c.21955A>C (p.Lys7319Gln)
c.21814A>C (p.Lys7272Gln)
c.47857A>C (p.Lys15953Gln)
c.43255A>C (p.Lys14419Gln)
c.43252A>C (p.Lys14418Gln)
c.40294A>C (p.Lys13432Gln)
c.21910A>C (p.Lys7304Gln)
c.43405A>C (p.Lys14469Gln)
c.43402A>C (p.Lys14468Gln)
c.42835A>C (p.Lys14279Gln)
c.40177A>C (p.Lys13393Gln)
c.40096A>C (p.Lys13366Gln)
c.21859A>C (p.Lys7287Gln)
c.11713A>C (p.Lys3905Gln)
2g.178614551A=CA1310549416TTN,TTN-AS1c.41259T= (p.Ser13753=)
c.22344T= (p.Ser7448=)
c.22143T= (p.Ser7381=)
c.21768T= (p.Ser7256=)
c.48963T= (p.Ser16321=)
c.44040T= (p.Ser14680=)
n.1299A=
c.48060T= (p.Ser16020=)
c.21954T= (p.Ser7318=)
c.21813T= (p.Ser7271=)
c.47856T= (p.Ser15952=)
c.43254T= (p.Ser14418=)
c.43251T= (p.Ser14417=)
c.40293T= (p.Ser13431=)
c.21909T= (p.Ser7303=)
c.43404T= (p.Ser14468=)
c.43401T= (p.Ser14467=)
c.42834T= (p.Ser14278=)
c.40176T= (p.Ser13392=)
c.40095T= (p.Ser13365=)
c.21858T= (p.Ser7286=)
c.11712T= (p.Ser3904=)
2g.178614551A>CCA349607256TTN,TTN-AS1c.41259T>G (p.Ser13753Arg)
c.22344T>G (p.Ser7448Arg)
c.22143T>G (p.Ser7381Arg)
c.21768T>G (p.Ser7256Arg)
c.48963T>G (p.Ser16321Arg)
c.44040T>G (p.Ser14680Arg)
n.1299A>C
c.48060T>G (p.Ser16020Arg)
c.21954T>G (p.Ser7318Arg)
c.21813T>G (p.Ser7271Arg)
c.47856T>G (p.Ser15952Arg)
c.43254T>G (p.Ser14418Arg)
c.43251T>G (p.Ser14417Arg)
c.40293T>G (p.Ser13431Arg)
c.21909T>G (p.Ser7303Arg)
c.43404T>G (p.Ser14468Arg)
c.43401T>G (p.Ser14467Arg)
c.42834T>G (p.Ser14278Arg)
c.40176T>G (p.Ser13392Arg)
c.40095T>G (p.Ser13365Arg)
c.21858T>G (p.Ser7286Arg)
c.11712T>G (p.Ser3904Arg)
 dbSNP
2g.178614551A>GCA430273525TTN,TTN-AS1c.41259T>C (p.Ser13753=)
c.22344T>C (p.Ser7448=)
c.22143T>C (p.Ser7381=)
c.21768T>C (p.Ser7256=)
c.48963T>C (p.Ser16321=)
c.44040T>C (p.Ser14680=)
n.1299A>G
c.48060T>C (p.Ser16020=)
c.21954T>C (p.Ser7318=)
c.21813T>C (p.Ser7271=)
c.47856T>C (p.Ser15952=)
c.43254T>C (p.Ser14418=)
c.43251T>C (p.Ser14417=)
c.40293T>C (p.Ser13431=)
c.21909T>C (p.Ser7303=)
c.43404T>C (p.Ser14468=)
c.43401T>C (p.Ser14467=)
c.42834T>C (p.Ser14278=)
c.40176T>C (p.Ser13392=)
c.40095T>C (p.Ser13365=)
c.21858T>C (p.Ser7286=)
c.11712T>C (p.Ser3904=)
2g.178614551A>TCA349607257TTN,TTN-AS1c.41259T>A (p.Ser13753Arg)
c.22344T>A (p.Ser7448Arg)
c.22143T>A (p.Ser7381Arg)
c.21768T>A (p.Ser7256Arg)
c.48963T>A (p.Ser16321Arg)
c.44040T>A (p.Ser14680Arg)
n.1299A>T
c.48060T>A (p.Ser16020Arg)
c.21954T>A (p.Ser7318Arg)
c.21813T>A (p.Ser7271Arg)
c.47856T>A (p.Ser15952Arg)
c.43254T>A (p.Ser14418Arg)
c.43251T>A (p.Ser14417Arg)
c.40293T>A (p.Ser13431Arg)
c.21909T>A (p.Ser7303Arg)
c.43404T>A (p.Ser14468Arg)
c.43401T>A (p.Ser14467Arg)
c.42834T>A (p.Ser14278Arg)
c.40176T>A (p.Ser13392Arg)
c.40095T>A (p.Ser13365Arg)
c.21858T>A (p.Ser7286Arg)
c.11712T>A (p.Ser3904Arg)
2g.178614552C>ACA349607258TTN,TTN-AS1c.41258G>T (p.Ser13753Ile)
c.22343G>T (p.Ser7448Ile)
c.22142G>T (p.Ser7381Ile)
c.21767G>T (p.Ser7256Ile)
c.48962G>T (p.Ser16321Ile)
c.44039G>T (p.Ser14680Ile)
n.1300C>A
c.48059G>T (p.Ser16020Ile)
c.21953G>T (p.Ser7318Ile)
c.21812G>T (p.Ser7271Ile)
c.47855G>T (p.Ser15952Ile)
c.43253G>T (p.Ser14418Ile)
c.43250G>T (p.Ser14417Ile)
c.40292G>T (p.Ser13431Ile)
c.21908G>T (p.Ser7303Ile)
c.43403G>T (p.Ser14468Ile)
c.43400G>T (p.Ser14467Ile)
c.42833G>T (p.Ser14278Ile)
c.40175G>T (p.Ser13392Ile)
c.40094G>T (p.Ser13365Ile)
c.21857G>T (p.Ser7286Ile)
c.11711G>T (p.Ser3904Ile)
2g.178614552C=CA1310549417TTN,TTN-AS1c.41258G= (p.Ser13753=)
c.22343G= (p.Ser7448=)
c.22142G= (p.Ser7381=)
c.21767G= (p.Ser7256=)
c.48962G= (p.Ser16321=)
c.44039G= (p.Ser14680=)
n.1300C=
c.48059G= (p.Ser16020=)
c.21953G= (p.Ser7318=)
c.21812G= (p.Ser7271=)
c.47855G= (p.Ser15952=)
c.43253G= (p.Ser14418=)
c.43250G= (p.Ser14417=)
c.40292G= (p.Ser13431=)
c.21908G= (p.Ser7303=)
c.43403G= (p.Ser14468=)
c.43400G= (p.Ser14467=)
c.42833G= (p.Ser14278=)
c.40175G= (p.Ser13392=)
c.40094G= (p.Ser13365=)
c.21857G= (p.Ser7286=)
c.11711G= (p.Ser3904=)
2g.178614552C>GCA349607259TTN,TTN-AS1c.41258G>C (p.Ser13753Thr)
c.22343G>C (p.Ser7448Thr)
c.22142G>C (p.Ser7381Thr)
c.21767G>C (p.Ser7256Thr)
c.48962G>C (p.Ser16321Thr)
c.44039G>C (p.Ser14680Thr)
n.1300C>G
c.48059G>C (p.Ser16020Thr)
c.21953G>C (p.Ser7318Thr)
c.21812G>C (p.Ser7271Thr)
c.47855G>C (p.Ser15952Thr)
c.43253G>C (p.Ser14418Thr)
c.43250G>C (p.Ser14417Thr)
c.40292G>C (p.Ser13431Thr)
c.21908G>C (p.Ser7303Thr)
c.43403G>C (p.Ser14468Thr)
c.43400G>C (p.Ser14467Thr)
c.42833G>C (p.Ser14278Thr)
c.40175G>C (p.Ser13392Thr)
c.40094G>C (p.Ser13365Thr)
c.21857G>C (p.Ser7286Thr)
c.11711G>C (p.Ser3904Thr)
2g.178614552C>TCA60987653TTN,TTN-AS1c.41258G>A (p.Ser13753Asn)
c.22343G>A (p.Ser7448Asn)
c.22142G>A (p.Ser7381Asn)
c.21767G>A (p.Ser7256Asn)
c.48962G>A (p.Ser16321Asn)
c.44039G>A (p.Ser14680Asn)
n.1300C>T
c.48059G>A (p.Ser16020Asn)
c.21953G>A (p.Ser7318Asn)
c.21812G>A (p.Ser7271Asn)
c.47855G>A (p.Ser15952Asn)
c.43253G>A (p.Ser14418Asn)
c.43250G>A (p.Ser14417Asn)
c.40292G>A (p.Ser13431Asn)
c.21908G>A (p.Ser7303Asn)
c.43403G>A (p.Ser14468Asn)
c.43400G>A (p.Ser14467Asn)
c.42833G>A (p.Ser14278Asn)
c.40175G>A (p.Ser13392Asn)
c.40094G>A (p.Ser13365Asn)
c.21857G>A (p.Ser7286Asn)
c.11711G>A (p.Ser3904Asn)
 dbSNP
2g.178614553T>ACA349607263TTN,TTN-AS1c.41257A>T (p.Ser13753Cys)
c.22342A>T (p.Ser7448Cys)
c.22141A>T (p.Ser7381Cys)
c.21766A>T (p.Ser7256Cys)
c.48961A>T (p.Ser16321Cys)
c.44038A>T (p.Ser14680Cys)
n.1301T>A
c.48058A>T (p.Ser16020Cys)
c.21952A>T (p.Ser7318Cys)
c.21811A>T (p.Ser7271Cys)
c.47854A>T (p.Ser15952Cys)
c.43252A>T (p.Ser14418Cys)
c.43249A>T (p.Ser14417Cys)
c.40291A>T (p.Ser13431Cys)
c.21907A>T (p.Ser7303Cys)
c.43402A>T (p.Ser14468Cys)
c.43399A>T (p.Ser14467Cys)
c.42832A>T (p.Ser14278Cys)
c.40174A>T (p.Ser13392Cys)
c.40093A>T (p.Ser13365Cys)
c.21856A>T (p.Ser7286Cys)
c.11710A>T (p.Ser3904Cys)
2g.178614553T>CCA349607264TTN,TTN-AS1c.41257A>G (p.Ser13753Gly)
c.22342A>G (p.Ser7448Gly)
c.22141A>G (p.Ser7381Gly)
c.21766A>G (p.Ser7256Gly)
c.48961A>G (p.Ser16321Gly)
c.44038A>G (p.Ser14680Gly)
n.1301T>C
c.48058A>G (p.Ser16020Gly)
c.21952A>G (p.Ser7318Gly)
c.21811A>G (p.Ser7271Gly)
c.47854A>G (p.Ser15952Gly)
c.43252A>G (p.Ser14418Gly)
c.43249A>G (p.Ser14417Gly)
c.40291A>G (p.Ser13431Gly)
c.21907A>G (p.Ser7303Gly)
c.43402A>G (p.Ser14468Gly)
c.43399A>G (p.Ser14467Gly)
c.42832A>G (p.Ser14278Gly)
c.40174A>G (p.Ser13392Gly)
c.40093A>G (p.Ser13365Gly)
c.21856A>G (p.Ser7286Gly)
c.11710A>G (p.Ser3904Gly)
2g.178614553T>GCA349607267TTN,TTN-AS1c.41257A>C (p.Ser13753Arg)
c.22342A>C (p.Ser7448Arg)
c.22141A>C (p.Ser7381Arg)
c.21766A>C (p.Ser7256Arg)
c.48961A>C (p.Ser16321Arg)
c.44038A>C (p.Ser14680Arg)
n.1301T>G
c.48058A>C (p.Ser16020Arg)
c.21952A>C (p.Ser7318Arg)
c.21811A>C (p.Ser7271Arg)
c.47854A>C (p.Ser15952Arg)
c.43252A>C (p.Ser14418Arg)
c.43249A>C (p.Ser14417Arg)
c.40291A>C (p.Ser13431Arg)
c.21907A>C (p.Ser7303Arg)
c.43402A>C (p.Ser14468Arg)
c.43399A>C (p.Ser14467Arg)
c.42832A>C (p.Ser14278Arg)
c.40174A>C (p.Ser13392Arg)
c.40093A>C (p.Ser13365Arg)
c.21856A>C (p.Ser7286Arg)
c.11710A>C (p.Ser3904Arg)
2g.178614554A=CA1310549418TTN,TTN-AS1c.41256T= (p.Asp13752=)
c.22341T= (p.Asp7447=)
c.22140T= (p.Asp7380=)
c.21765T= (p.Asp7255=)
c.48960T= (p.Asp16320=)
c.44037T= (p.Asp14679=)
n.1302A=
c.48057T= (p.Asp16019=)
c.21951T= (p.Asp7317=)
c.21810T= (p.Asp7270=)
c.47853T= (p.Asp15951=)
c.43251T= (p.Asp14417=)
c.43248T= (p.Asp14416=)
c.40290T= (p.Asp13430=)
c.21906T= (p.Asp7302=)
c.43401T= (p.Asp14467=)
c.43398T= (p.Asp14466=)
c.42831T= (p.Asp14277=)
c.40173T= (p.Asp13391=)
c.40092T= (p.Asp13364=)
c.21855T= (p.Asp7285=)
c.11709T= (p.Asp3903=)
2g.178614554A>CCA349607271TTN,TTN-AS1c.41256T>G (p.Asp13752Glu)
c.22341T>G (p.Asp7447Glu)
c.22140T>G (p.Asp7380Glu)
c.21765T>G (p.Asp7255Glu)
c.48960T>G (p.Asp16320Glu)
c.44037T>G (p.Asp14679Glu)
n.1302A>C
c.48057T>G (p.Asp16019Glu)
c.21951T>G (p.Asp7317Glu)
c.21810T>G (p.Asp7270Glu)
c.47853T>G (p.Asp15951Glu)
c.43251T>G (p.Asp14417Glu)
c.43248T>G (p.Asp14416Glu)
c.40290T>G (p.Asp13430Glu)
c.21906T>G (p.Asp7302Glu)
c.43401T>G (p.Asp14467Glu)
c.43398T>G (p.Asp14466Glu)
c.42831T>G (p.Asp14277Glu)
c.40173T>G (p.Asp13391Glu)
c.40092T>G (p.Asp13364Glu)
c.21855T>G (p.Asp7285Glu)
c.11709T>G (p.Asp3903Glu)
2g.178614554A>GCA16604152TTN,TTN-AS1c.41256T>C (p.Asp13752=)
c.22341T>C (p.Asp7447=)
c.22140T>C (p.Asp7380=)
c.21765T>C (p.Asp7255=)
c.48960T>C (p.Asp16320=)
c.44037T>C (p.Asp14679=)
n.1302A>G
c.48057T>C (p.Asp16019=)
c.21951T>C (p.Asp7317=)
c.21810T>C (p.Asp7270=)
c.47853T>C (p.Asp15951=)
c.43251T>C (p.Asp14417=)
c.43248T>C (p.Asp14416=)
c.40290T>C (p.Asp13430=)
c.21906T>C (p.Asp7302=)
c.43401T>C (p.Asp14467=)
c.43398T>C (p.Asp14466=)
c.42831T>C (p.Asp14277=)
c.40173T>C (p.Asp13391=)
c.40092T>C (p.Asp13364=)
c.21855T>C (p.Asp7285=)
c.11709T>C (p.Asp3903=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178614554A>TCA349607269TTN,TTN-AS1c.41256T>A (p.Asp13752Glu)
c.22341T>A (p.Asp7447Glu)
c.22140T>A (p.Asp7380Glu)
c.21765T>A (p.Asp7255Glu)
c.48960T>A (p.Asp16320Glu)
c.44037T>A (p.Asp14679Glu)
n.1302A>T
c.48057T>A (p.Asp16019Glu)
c.21951T>A (p.Asp7317Glu)
c.21810T>A (p.Asp7270Glu)
c.47853T>A (p.Asp15951Glu)
c.43251T>A (p.Asp14417Glu)
c.43248T>A (p.Asp14416Glu)
c.40290T>A (p.Asp13430Glu)
c.21906T>A (p.Asp7302Glu)
c.43401T>A (p.Asp14467Glu)
c.43398T>A (p.Asp14466Glu)
c.42831T>A (p.Asp14277Glu)
c.40173T>A (p.Asp13391Glu)
c.40092T>A (p.Asp13364Glu)
c.21855T>A (p.Asp7285Glu)
c.11709T>A (p.Asp3903Glu)
2g.178614555_178614558dupCA2662132184TTN,TTN-AS1c.41253_41256dup (p.Ser13753Ter)
c.22338_22341dup (p.Ser7448Ter)
c.22137_22140dup (p.Ser7381Ter)
c.21762_21765dup (p.Ser7256Ter)
c.48957_48960dup (p.Ser16321Ter)
c.44034_44037dup (p.Ser14680Ter)
n.1303_1306dup
c.48054_48057dup (p.Ser16020Ter)
c.21948_21951dup (p.Ser7318Ter)
c.21807_21810dup (p.Ser7271Ter)
c.47850_47853dup (p.Ser15952Ter)
c.43248_43251dup (p.Ser14418Ter)
c.43245_43248dup (p.Ser14417Ter)
c.40287_40290dup (p.Ser13431Ter)
c.21903_21906dup (p.Ser7303Ter)
c.43398_43401dup (p.Ser14468Ter)
c.43395_43398dup (p.Ser14467Ter)
c.42828_42831dup (p.Ser14278Ter)
c.40170_40173dup (p.Ser13392Ter)
c.40089_40092dup (p.Ser13365Ter)
c.21852_21855dup (p.Ser7286Ter)
c.11706_11709dup (p.Ser3904Ter)
 gnomAD v4
2g.178614555T>ACA349607273TTN,TTN-AS1c.41255A>T (p.Asp13752Val)
c.22340A>T (p.Asp7447Val)
c.22139A>T (p.Asp7380Val)
c.21764A>T (p.Asp7255Val)
c.48959A>T (p.Asp16320Val)
c.44036A>T (p.Asp14679Val)
n.1303T>A
c.48056A>T (p.Asp16019Val)
c.21950A>T (p.Asp7317Val)
c.21809A>T (p.Asp7270Val)
c.47852A>T (p.Asp15951Val)
c.43250A>T (p.Asp14417Val)
c.43247A>T (p.Asp14416Val)
c.40289A>T (p.Asp13430Val)
c.21905A>T (p.Asp7302Val)
c.43400A>T (p.Asp14467Val)
c.43397A>T (p.Asp14466Val)
c.42830A>T (p.Asp14277Val)
c.40172A>T (p.Asp13391Val)
c.40091A>T (p.Asp13364Val)
c.21854A>T (p.Asp7285Val)
c.11708A>T (p.Asp3903Val)
2g.178614555T>CCA349607275TTN,TTN-AS1c.41255A>G (p.Asp13752Gly)
c.22340A>G (p.Asp7447Gly)
c.22139A>G (p.Asp7380Gly)
c.21764A>G (p.Asp7255Gly)
c.48959A>G (p.Asp16320Gly)
c.44036A>G (p.Asp14679Gly)
n.1303T>C
c.48056A>G (p.Asp16019Gly)
c.21950A>G (p.Asp7317Gly)
c.21809A>G (p.Asp7270Gly)
c.47852A>G (p.Asp15951Gly)
c.43250A>G (p.Asp14417Gly)
c.43247A>G (p.Asp14416Gly)
c.40289A>G (p.Asp13430Gly)
c.21905A>G (p.Asp7302Gly)
c.43400A>G (p.Asp14467Gly)
c.43397A>G (p.Asp14466Gly)
c.42830A>G (p.Asp14277Gly)
c.40172A>G (p.Asp13391Gly)
c.40091A>G (p.Asp13364Gly)
c.21854A>G (p.Asp7285Gly)
c.11708A>G (p.Asp3903Gly)
2g.178614555T>GCA349607277TTN,TTN-AS1c.41255A>C (p.Asp13752Ala)
c.22340A>C (p.Asp7447Ala)
c.22139A>C (p.Asp7380Ala)
c.21764A>C (p.Asp7255Ala)
c.48959A>C (p.Asp16320Ala)
c.44036A>C (p.Asp14679Ala)
n.1303T>G
c.48056A>C (p.Asp16019Ala)
c.21950A>C (p.Asp7317Ala)
c.21809A>C (p.Asp7270Ala)
c.47852A>C (p.Asp15951Ala)
c.43250A>C (p.Asp14417Ala)
c.43247A>C (p.Asp14416Ala)
c.40289A>C (p.Asp13430Ala)
c.21905A>C (p.Asp7302Ala)
c.43400A>C (p.Asp14467Ala)
c.43397A>C (p.Asp14466Ala)
c.42830A>C (p.Asp14277Ala)
c.40172A>C (p.Asp13391Ala)
c.40091A>C (p.Asp13364Ala)
c.21854A>C (p.Asp7285Ala)
c.11708A>C (p.Asp3903Ala)
2g.178614556C>ACA349607279TTN,TTN-AS1c.41254G>T (p.Asp13752Tyr)
c.22339G>T (p.Asp7447Tyr)
c.22138G>T (p.Asp7380Tyr)
c.21763G>T (p.Asp7255Tyr)
c.48958G>T (p.Asp16320Tyr)
c.44035G>T (p.Asp14679Tyr)
n.1304C>A
c.48055G>T (p.Asp16019Tyr)
c.21949G>T (p.Asp7317Tyr)
c.21808G>T (p.Asp7270Tyr)
c.47851G>T (p.Asp15951Tyr)
c.43249G>T (p.Asp14417Tyr)
c.43246G>T (p.Asp14416Tyr)
c.40288G>T (p.Asp13430Tyr)
c.21904G>T (p.Asp7302Tyr)
c.43399G>T (p.Asp14467Tyr)
c.43396G>T (p.Asp14466Tyr)
c.42829G>T (p.Asp14277Tyr)
c.40171G>T (p.Asp13391Tyr)
c.40090G>T (p.Asp13364Tyr)
c.21853G>T (p.Asp7285Tyr)
c.11707G>T (p.Asp3903Tyr)
2g.178614556C>GCA349607281TTN,TTN-AS1c.41254G>C (p.Asp13752His)
c.22339G>C (p.Asp7447His)
c.22138G>C (p.Asp7380His)
c.21763G>C (p.Asp7255His)
c.48958G>C (p.Asp16320His)
c.44035G>C (p.Asp14679His)
n.1304C>G
c.48055G>C (p.Asp16019His)
c.21949G>C (p.Asp7317His)
c.21808G>C (p.Asp7270His)
c.47851G>C (p.Asp15951His)
c.43249G>C (p.Asp14417His)
c.43246G>C (p.Asp14416His)
c.40288G>C (p.Asp13430His)
c.21904G>C (p.Asp7302His)
c.43399G>C (p.Asp14467His)
c.43396G>C (p.Asp14466His)
c.42829G>C (p.Asp14277His)
c.40171G>C (p.Asp13391His)
c.40090G>C (p.Asp13364His)
c.21853G>C (p.Asp7285His)
c.11707G>C (p.Asp3903His)
2g.178614556C>TCA349607282TTN,TTN-AS1c.41254G>A (p.Asp13752Asn)
c.22339G>A (p.Asp7447Asn)
c.22138G>A (p.Asp7380Asn)
c.21763G>A (p.Asp7255Asn)
c.48958G>A (p.Asp16320Asn)
c.44035G>A (p.Asp14679Asn)
n.1304C>T
c.48055G>A (p.Asp16019Asn)
c.21949G>A (p.Asp7317Asn)
c.21808G>A (p.Asp7270Asn)
c.47851G>A (p.Asp15951Asn)
c.43249G>A (p.Asp14417Asn)
c.43246G>A (p.Asp14416Asn)
c.40288G>A (p.Asp13430Asn)
c.21904G>A (p.Asp7302Asn)
c.43399G>A (p.Asp14467Asn)
c.43396G>A (p.Asp14466Asn)
c.42829G>A (p.Asp14277Asn)
c.40171G>A (p.Asp13391Asn)
c.40090G>A (p.Asp13364Asn)
c.21853G>A (p.Asp7285Asn)
c.11707G>A (p.Asp3903Asn)
2g.178614557A>CCA430273539TTN,TTN-AS1c.41253T>G (p.Val13751=)
c.22338T>G (p.Val7446=)
c.22137T>G (p.Val7379=)
c.21762T>G (p.Val7254=)
c.48957T>G (p.Val16319=)
c.44034T>G (p.Val14678=)
n.1305A>C
c.48054T>G (p.Val16018=)
c.21948T>G (p.Val7316=)
c.21807T>G (p.Val7269=)
c.47850T>G (p.Val15950=)
c.43248T>G (p.Val14416=)
c.43245T>G (p.Val14415=)
c.40287T>G (p.Val13429=)
c.21903T>G (p.Val7301=)
c.43398T>G (p.Val14466=)
c.43395T>G (p.Val14465=)
c.42828T>G (p.Val14276=)
c.40170T>G (p.Val13390=)
c.40089T>G (p.Val13363=)
c.21852T>G (p.Val7284=)
c.11706T>G (p.Val3902=)
 gnomAD v4
2g.178614557A>GCA430273540TTN,TTN-AS1c.41253T>C (p.Val13751=)
c.22338T>C (p.Val7446=)
c.22137T>C (p.Val7379=)
c.21762T>C (p.Val7254=)
c.48957T>C (p.Val16319=)
c.44034T>C (p.Val14678=)
n.1305A>G
c.48054T>C (p.Val16018=)
c.21948T>C (p.Val7316=)
c.21807T>C (p.Val7269=)
c.47850T>C (p.Val15950=)
c.43248T>C (p.Val14416=)
c.43245T>C (p.Val14415=)
c.40287T>C (p.Val13429=)
c.21903T>C (p.Val7301=)
c.43398T>C (p.Val14466=)
c.43395T>C (p.Val14465=)
c.42828T>C (p.Val14276=)
c.40170T>C (p.Val13390=)
c.40089T>C (p.Val13363=)
c.21852T>C (p.Val7284=)
c.11706T>C (p.Val3902=)
2g.178614557A>TCA430273541TTN,TTN-AS1c.41253T>A (p.Val13751=)
c.22338T>A (p.Val7446=)
c.22137T>A (p.Val7379=)
c.21762T>A (p.Val7254=)
c.48957T>A (p.Val16319=)
c.44034T>A (p.Val14678=)
n.1305A>T
c.48054T>A (p.Val16018=)
c.21948T>A (p.Val7316=)
c.21807T>A (p.Val7269=)
c.47850T>A (p.Val15950=)
c.43248T>A (p.Val14416=)
c.43245T>A (p.Val14415=)
c.40287T>A (p.Val13429=)
c.21903T>A (p.Val7301=)
c.43398T>A (p.Val14466=)
c.43395T>A (p.Val14465=)
c.42828T>A (p.Val14276=)
c.40170T>A (p.Val13390=)
c.40089T>A (p.Val13363=)
c.21852T>A (p.Val7284=)
c.11706T>A (p.Val3902=)
2g.178614557_178614558delCA2517469939TTN,TTN-AS1c.41252_41253del (p.Val13751GlyfsTer2)
c.22337_22338del (p.Val7446GlyfsTer2)
c.22136_22137del (p.Val7379GlyfsTer2)
c.21761_21762del (p.Val7254GlyfsTer2)
c.48956_48957del (p.Val16319GlyfsTer2)
c.44033_44034del (p.Val14678GlyfsTer2)
n.1305_1306del
c.48053_48054del (p.Val16018GlyfsTer2)
c.21947_21948del (p.Val7316GlyfsTer2)
c.21806_21807del (p.Val7269GlyfsTer2)
c.47849_47850del (p.Val15950GlyfsTer2)
c.43247_43248del (p.Val14416GlyfsTer2)
c.43244_43245del (p.Val14415GlyfsTer2)
c.40286_40287del (p.Val13429GlyfsTer2)
c.21902_21903del (p.Val7301GlyfsTer2)
c.43397_43398del (p.Val14466GlyfsTer2)
c.43394_43395del (p.Val14465GlyfsTer2)
c.42827_42828del (p.Val14276GlyfsTer2)
c.40169_40170del (p.Val13390GlyfsTer2)
c.40088_40089del (p.Val13363GlyfsTer2)
c.21851_21852del (p.Val7284GlyfsTer2)
c.11705_11706del (p.Val3902GlyfsTer2)
2g.178614558A=CA1310549419TTN,TTN-AS1c.41252T= (p.Val13751=)
c.22337T= (p.Val7446=)
c.22136T= (p.Val7379=)
c.21761T= (p.Val7254=)
c.48956T= (p.Val16319=)
c.44033T= (p.Val14678=)
n.1306A=
c.48053T= (p.Val16018=)
c.21947T= (p.Val7316=)
c.21806T= (p.Val7269=)
c.47849T= (p.Val15950=)
c.43247T= (p.Val14416=)
c.43244T= (p.Val14415=)
c.40286T= (p.Val13429=)
c.21902T= (p.Val7301=)
c.43397T= (p.Val14466=)
c.43394T= (p.Val14465=)
c.42827T= (p.Val14276=)
c.40169T= (p.Val13390=)
c.40088T= (p.Val13363=)
c.21851T= (p.Val7284=)
c.11705T= (p.Val3902=)
2g.178614558A>CCA349607287TTN,TTN-AS1c.41252T>G (p.Val13751Gly)
c.22337T>G (p.Val7446Gly)
c.22136T>G (p.Val7379Gly)
c.21761T>G (p.Val7254Gly)
c.48956T>G (p.Val16319Gly)
c.44033T>G (p.Val14678Gly)
n.1306A>C
c.48053T>G (p.Val16018Gly)
c.21947T>G (p.Val7316Gly)
c.21806T>G (p.Val7269Gly)
c.47849T>G (p.Val15950Gly)
c.43247T>G (p.Val14416Gly)
c.43244T>G (p.Val14415Gly)
c.40286T>G (p.Val13429Gly)
c.21902T>G (p.Val7301Gly)
c.43397T>G (p.Val14466Gly)
c.43394T>G (p.Val14465Gly)
c.42827T>G (p.Val14276Gly)
c.40169T>G (p.Val13390Gly)
c.40088T>G (p.Val13363Gly)
c.21851T>G (p.Val7284Gly)
c.11705T>G (p.Val3902Gly)
2g.178614558A>GCA1994715TTN,TTN-AS1c.41252T>C (p.Val13751Ala)
c.22337T>C (p.Val7446Ala)
c.22136T>C (p.Val7379Ala)
c.21761T>C (p.Val7254Ala)
c.48956T>C (p.Val16319Ala)
c.44033T>C (p.Val14678Ala)
n.1306A>G
c.48053T>C (p.Val16018Ala)
c.21947T>C (p.Val7316Ala)
c.21806T>C (p.Val7269Ala)
c.47849T>C (p.Val15950Ala)
c.43247T>C (p.Val14416Ala)
c.43244T>C (p.Val14415Ala)
c.40286T>C (p.Val13429Ala)
c.21902T>C (p.Val7301Ala)
c.43397T>C (p.Val14466Ala)
c.43394T>C (p.Val14465Ala)
c.42827T>C (p.Val14276Ala)
c.40169T>C (p.Val13390Ala)
c.40088T>C (p.Val13363Ala)
c.21851T>C (p.Val7284Ala)
c.11705T>C (p.Val3902Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178614558A>TCA349607285TTN,TTN-AS1c.41252T>A (p.Val13751Asp)
c.22337T>A (p.Val7446Asp)
c.22136T>A (p.Val7379Asp)
c.21761T>A (p.Val7254Asp)
c.48956T>A (p.Val16319Asp)
c.44033T>A (p.Val14678Asp)
n.1306A>T
c.48053T>A (p.Val16018Asp)
c.21947T>A (p.Val7316Asp)
c.21806T>A (p.Val7269Asp)
c.47849T>A (p.Val15950Asp)
c.43247T>A (p.Val14416Asp)
c.43244T>A (p.Val14415Asp)
c.40286T>A (p.Val13429Asp)
c.21902T>A (p.Val7301Asp)
c.43397T>A (p.Val14466Asp)
c.43394T>A (p.Val14465Asp)
c.42827T>A (p.Val14276Asp)
c.40169T>A (p.Val13390Asp)
c.40088T>A (p.Val13363Asp)
c.21851T>A (p.Val7284Asp)
c.11705T>A (p.Val3902Asp)
2g.178614559C>ACA349607288TTN,TTN-AS1c.41251G>T (p.Val13751Phe)
c.22336G>T (p.Val7446Phe)
c.22135G>T (p.Val7379Phe)
c.21760G>T (p.Val7254Phe)
c.48955G>T (p.Val16319Phe)
c.44032G>T (p.Val14678Phe)
n.1307C>A
c.48052G>T (p.Val16018Phe)
c.21946G>T (p.Val7316Phe)
c.21805G>T (p.Val7269Phe)
c.47848G>T (p.Val15950Phe)
c.43246G>T (p.Val14416Phe)
c.43243G>T (p.Val14415Phe)
c.40285G>T (p.Val13429Phe)
c.21901G>T (p.Val7301Phe)
c.43396G>T (p.Val14466Phe)
c.43393G>T (p.Val14465Phe)
c.42826G>T (p.Val14276Phe)
c.40168G>T (p.Val13390Phe)
c.40087G>T (p.Val13363Phe)
c.21850G>T (p.Val7284Phe)
c.11704G>T (p.Val3902Phe)
2g.178614559C>GCA349607289TTN,TTN-AS1c.41251G>C (p.Val13751Leu)
c.22336G>C (p.Val7446Leu)
c.22135G>C (p.Val7379Leu)
c.21760G>C (p.Val7254Leu)
c.48955G>C (p.Val16319Leu)
c.44032G>C (p.Val14678Leu)
n.1307C>G
c.48052G>C (p.Val16018Leu)
c.21946G>C (p.Val7316Leu)
c.21805G>C (p.Val7269Leu)
c.47848G>C (p.Val15950Leu)
c.43246G>C (p.Val14416Leu)
c.43243G>C (p.Val14415Leu)
c.40285G>C (p.Val13429Leu)
c.21901G>C (p.Val7301Leu)
c.43396G>C (p.Val14466Leu)
c.43393G>C (p.Val14465Leu)
c.42826G>C (p.Val14276Leu)
c.40168G>C (p.Val13390Leu)
c.40087G>C (p.Val13363Leu)
c.21850G>C (p.Val7284Leu)
c.11704G>C (p.Val3902Leu)
2g.178614559C>TCA349607291TTN,TTN-AS1c.41251G>A (p.Val13751Ile)
c.22336G>A (p.Val7446Ile)
c.22135G>A (p.Val7379Ile)
c.21760G>A (p.Val7254Ile)
c.48955G>A (p.Val16319Ile)
c.44032G>A (p.Val14678Ile)
n.1307C>T
c.48052G>A (p.Val16018Ile)
c.21946G>A (p.Val7316Ile)
c.21805G>A (p.Val7269Ile)
c.47848G>A (p.Val15950Ile)
c.43246G>A (p.Val14416Ile)
c.43243G>A (p.Val14415Ile)
c.40285G>A (p.Val13429Ile)
c.21901G>A (p.Val7301Ile)
c.43396G>A (p.Val14466Ile)
c.43393G>A (p.Val14465Ile)
c.42826G>A (p.Val14276Ile)
c.40168G>A (p.Val13390Ile)
c.40087G>A (p.Val13363Ile)
c.21850G>A (p.Val7284Ile)
c.11704G>A (p.Val3902Ile)
2g.178614560A>CCA349607293TTN,TTN-AS1c.41250T>G (p.Ile13750Met)
c.22335T>G (p.Ile7445Met)
c.22134T>G (p.Ile7378Met)
c.21759T>G (p.Ile7253Met)
c.48954T>G (p.Ile16318Met)
c.44031T>G (p.Ile14677Met)
n.1308A>C
c.48051T>G (p.Ile16017Met)
c.21945T>G (p.Ile7315Met)
c.21804T>G (p.Ile7268Met)
c.47847T>G (p.Ile15949Met)
c.43245T>G (p.Ile14415Met)
c.43242T>G (p.Ile14414Met)
c.40284T>G (p.Ile13428Met)
c.21900T>G (p.Ile7300Met)
c.43395T>G (p.Ile14465Met)
c.43392T>G (p.Ile14464Met)
c.42825T>G (p.Ile14275Met)
c.40167T>G (p.Ile13389Met)
c.40086T>G (p.Ile13362Met)
c.21849T>G (p.Ile7283Met)
c.11703T>G (p.Ile3901Met)
2g.178614560A>GCA430273551TTN,TTN-AS1c.41250T>C (p.Ile13750=)
c.22335T>C (p.Ile7445=)
c.22134T>C (p.Ile7378=)
c.21759T>C (p.Ile7253=)
c.48954T>C (p.Ile16318=)
c.44031T>C (p.Ile14677=)
n.1308A>G
c.48051T>C (p.Ile16017=)
c.21945T>C (p.Ile7315=)
c.21804T>C (p.Ile7268=)
c.47847T>C (p.Ile15949=)
c.43245T>C (p.Ile14415=)
c.43242T>C (p.Ile14414=)
c.40284T>C (p.Ile13428=)
c.21900T>C (p.Ile7300=)
c.43395T>C (p.Ile14465=)
c.43392T>C (p.Ile14464=)
c.42825T>C (p.Ile14275=)
c.40167T>C (p.Ile13389=)
c.40086T>C (p.Ile13362=)
c.21849T>C (p.Ile7283=)
c.11703T>C (p.Ile3901=)
2g.178614560A>TCA430273553TTN,TTN-AS1c.41250T>A (p.Ile13750=)
c.22335T>A (p.Ile7445=)
c.22134T>A (p.Ile7378=)
c.21759T>A (p.Ile7253=)
c.48954T>A (p.Ile16318=)
c.44031T>A (p.Ile14677=)
n.1308A>T
c.48051T>A (p.Ile16017=)
c.21945T>A (p.Ile7315=)
c.21804T>A (p.Ile7268=)
c.47847T>A (p.Ile15949=)
c.43245T>A (p.Ile14415=)
c.43242T>A (p.Ile14414=)
c.40284T>A (p.Ile13428=)
c.21900T>A (p.Ile7300=)
c.43395T>A (p.Ile14465=)
c.43392T>A (p.Ile14464=)
c.42825T>A (p.Ile14275=)
c.40167T>A (p.Ile13389=)
c.40086T>A (p.Ile13362=)
c.21849T>A (p.Ile7283=)
c.11703T>A (p.Ile3901=)
2g.178614560_178614561insTGCA2503243495TTN,TTN-AS1c.41249_41250insCA (p.Val13751MetfsTer17)
c.22334_22335insCA (p.Val7446MetfsTer17)
c.22133_22134insCA (p.Val7379MetfsTer17)
c.21758_21759insCA (p.Val7254MetfsTer17)
c.48953_48954insCA (p.Val16319MetfsTer17)
c.44030_44031insCA (p.Val14678MetfsTer17)
n.1308_1309insTG
c.48050_48051insCA (p.Val16018MetfsTer17)
c.21944_21945insCA (p.Val7316MetfsTer17)
c.21803_21804insCA (p.Val7269MetfsTer17)
c.47846_47847insCA (p.Val15950MetfsTer17)
c.43244_43245insCA (p.Val14416MetfsTer17)
c.43241_43242insCA (p.Val14415MetfsTer17)
c.40283_40284insCA (p.Val13429MetfsTer17)
c.21899_21900insCA (p.Val7301MetfsTer17)
c.43394_43395insCA (p.Val14466MetfsTer17)
c.43391_43392insCA (p.Val14465MetfsTer17)
c.42824_42825insCA (p.Val14276MetfsTer17)
c.40166_40167insCA (p.Val13390MetfsTer17)
c.40085_40086insCA (p.Val13363MetfsTer17)
c.21848_21849insCA (p.Val7284MetfsTer17)
c.11702_11703insCA (p.Val3902MetfsTer17)
2g.178614561A=CA1310549420TTN,TTN-AS1c.41249T= (p.Ile13750=)
c.22334T= (p.Ile7445=)
c.22133T= (p.Ile7378=)
c.21758T= (p.Ile7253=)
c.48953T= (p.Ile16318=)
c.44030T= (p.Ile14677=)
n.1309A=
c.48050T= (p.Ile16017=)
c.21944T= (p.Ile7315=)
c.21803T= (p.Ile7268=)
c.47846T= (p.Ile15949=)
c.43244T= (p.Ile14415=)
c.43241T= (p.Ile14414=)
c.40283T= (p.Ile13428=)
c.21899T= (p.Ile7300=)
c.43394T= (p.Ile14465=)
c.43391T= (p.Ile14464=)
c.42824T= (p.Ile14275=)
c.40166T= (p.Ile13389=)
c.40085T= (p.Ile13362=)
c.21848T= (p.Ile7283=)
c.11702T= (p.Ile3901=)
2g.178614561A>CCA349607295TTN,TTN-AS1c.41249T>G (p.Ile13750Ser)
c.22334T>G (p.Ile7445Ser)
c.22133T>G (p.Ile7378Ser)
c.21758T>G (p.Ile7253Ser)
c.48953T>G (p.Ile16318Ser)
c.44030T>G (p.Ile14677Ser)
n.1309A>C
c.48050T>G (p.Ile16017Ser)
c.21944T>G (p.Ile7315Ser)
c.21803T>G (p.Ile7268Ser)
c.47846T>G (p.Ile15949Ser)
c.43244T>G (p.Ile14415Ser)
c.43241T>G (p.Ile14414Ser)
c.40283T>G (p.Ile13428Ser)
c.21899T>G (p.Ile7300Ser)
c.43394T>G (p.Ile14465Ser)
c.43391T>G (p.Ile14464Ser)
c.42824T>G (p.Ile14275Ser)
c.40166T>G (p.Ile13389Ser)
c.40085T>G (p.Ile13362Ser)
c.21848T>G (p.Ile7283Ser)
c.11702T>G (p.Ile3901Ser)
2g.178614561A>GCA139797TTN,TTN-AS1c.41249T>C (p.Ile13750Thr)
c.22334T>C (p.Ile7445Thr)
c.22133T>C (p.Ile7378Thr)
c.21758T>C (p.Ile7253Thr)
c.48953T>C (p.Ile16318Thr)
c.44030T>C (p.Ile14677Thr)
n.1309A>G
c.48050T>C (p.Ile16017Thr)
c.21944T>C (p.Ile7315Thr)
c.21803T>C (p.Ile7268Thr)
c.47846T>C (p.Ile15949Thr)
c.43244T>C (p.Ile14415Thr)
c.43241T>C (p.Ile14414Thr)
c.40283T>C (p.Ile13428Thr)
c.21899T>C (p.Ile7300Thr)
c.43394T>C (p.Ile14465Thr)
c.43391T>C (p.Ile14464Thr)
c.42824T>C (p.Ile14275Thr)
c.40166T>C (p.Ile13389Thr)
c.40085T>C (p.Ile13362Thr)
c.21848T>C (p.Ile7283Thr)
c.11702T>C (p.Ile3901Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178614561A>TCA349607297TTN,TTN-AS1c.41249T>A (p.Ile13750Asn)
c.22334T>A (p.Ile7445Asn)
c.22133T>A (p.Ile7378Asn)
c.21758T>A (p.Ile7253Asn)
c.48953T>A (p.Ile16318Asn)
c.44030T>A (p.Ile14677Asn)
n.1309A>T
c.48050T>A (p.Ile16017Asn)
c.21944T>A (p.Ile7315Asn)
c.21803T>A (p.Ile7268Asn)
c.47846T>A (p.Ile15949Asn)
c.43244T>A (p.Ile14415Asn)
c.43241T>A (p.Ile14414Asn)
c.40283T>A (p.Ile13428Asn)
c.21899T>A (p.Ile7300Asn)
c.43394T>A (p.Ile14465Asn)
c.43391T>A (p.Ile14464Asn)
c.42824T>A (p.Ile14275Asn)
c.40166T>A (p.Ile13389Asn)
c.40085T>A (p.Ile13362Asn)
c.21848T>A (p.Ile7283Asn)
c.11702T>A (p.Ile3901Asn)
2g.178614562T>ACA349607300TTN,TTN-AS1c.41248A>T (p.Ile13750Phe)
c.22333A>T (p.Ile7445Phe)
c.22132A>T (p.Ile7378Phe)
c.21757A>T (p.Ile7253Phe)
c.48952A>T (p.Ile16318Phe)
c.44029A>T (p.Ile14677Phe)
n.1310T>A
c.48049A>T (p.Ile16017Phe)
c.21943A>T (p.Ile7315Phe)
c.21802A>T (p.Ile7268Phe)
c.47845A>T (p.Ile15949Phe)
c.43243A>T (p.Ile14415Phe)
c.43240A>T (p.Ile14414Phe)
c.40282A>T (p.Ile13428Phe)
c.21898A>T (p.Ile7300Phe)
c.43393A>T (p.Ile14465Phe)
c.43390A>T (p.Ile14464Phe)
c.42823A>T (p.Ile14275Phe)
c.40165A>T (p.Ile13389Phe)
c.40084A>T (p.Ile13362Phe)
c.21847A>T (p.Ile7283Phe)
c.11701A>T (p.Ile3901Phe)
2g.178614562T>CCA349607301TTN,TTN-AS1c.41248A>G (p.Ile13750Val)
c.22333A>G (p.Ile7445Val)
c.22132A>G (p.Ile7378Val)
c.21757A>G (p.Ile7253Val)
c.48952A>G (p.Ile16318Val)
c.44029A>G (p.Ile14677Val)
n.1310T>C
c.48049A>G (p.Ile16017Val)
c.21943A>G (p.Ile7315Val)
c.21802A>G (p.Ile7268Val)
c.47845A>G (p.Ile15949Val)
c.43243A>G (p.Ile14415Val)
c.43240A>G (p.Ile14414Val)
c.40282A>G (p.Ile13428Val)
c.21898A>G (p.Ile7300Val)
c.43393A>G (p.Ile14465Val)
c.43390A>G (p.Ile14464Val)
c.42823A>G (p.Ile14275Val)
c.40165A>G (p.Ile13389Val)
c.40084A>G (p.Ile13362Val)
c.21847A>G (p.Ile7283Val)
c.11701A>G (p.Ile3901Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178614562T>GCA60987660TTN,TTN-AS1c.41248A>C (p.Ile13750Leu)
c.22333A>C (p.Ile7445Leu)
c.22132A>C (p.Ile7378Leu)
c.21757A>C (p.Ile7253Leu)
c.48952A>C (p.Ile16318Leu)
c.44029A>C (p.Ile14677Leu)
n.1310T>G
c.48049A>C (p.Ile16017Leu)
c.21943A>C (p.Ile7315Leu)
c.21802A>C (p.Ile7268Leu)
c.47845A>C (p.Ile15949Leu)
c.43243A>C (p.Ile14415Leu)
c.43240A>C (p.Ile14414Leu)
c.40282A>C (p.Ile13428Leu)
c.21898A>C (p.Ile7300Leu)
c.43393A>C (p.Ile14465Leu)
c.43390A>C (p.Ile14464Leu)
c.42823A>C (p.Ile14275Leu)
c.40165A>C (p.Ile13389Leu)
c.40084A>C (p.Ile13362Leu)
c.21847A>C (p.Ile7283Leu)
c.11701A>C (p.Ile3901Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178614562T=CA1310549421TTN,TTN-AS1c.41248A= (p.Ile13750=)
c.22333A= (p.Ile7445=)
c.22132A= (p.Ile7378=)
c.21757A= (p.Ile7253=)
c.48952A= (p.Ile16318=)
c.44029A= (p.Ile14677=)
n.1310T=
c.48049A= (p.Ile16017=)
c.21943A= (p.Ile7315=)
c.21802A= (p.Ile7268=)
c.47845A= (p.Ile15949=)
c.43243A= (p.Ile14415=)
c.43240A= (p.Ile14414=)
c.40282A= (p.Ile13428=)
c.21898A= (p.Ile7300=)
c.43393A= (p.Ile14465=)
c.43390A= (p.Ile14464=)
c.42823A= (p.Ile14275=)
c.40165A= (p.Ile13389=)
c.40084A= (p.Ile13362=)
c.21847A= (p.Ile7283=)
c.11701A= (p.Ile3901=)

Number of alleles fetched