| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178614547_178614551delinsTCTTA | CA1310549415 | TTN,TTN-AS1 | c.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=) | |
| 2 | g.178614550_178614553del | CA658796071 | TTN,TTN-AS1 | c.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 |
| 2 | g.178614549T>A | CA349607244 | TTN,TTN-AS1 | c.41261A>T (p.Lys13754Met) c.22346A>T (p.Lys7449Met) c.22145A>T (p.Lys7382Met) c.21770A>T (p.Lys7257Met) c.48965A>T (p.Lys16322Met) c.44042A>T (p.Lys14681Met) n.1297T>A c.48062A>T (p.Lys16021Met) c.21956A>T (p.Lys7319Met) c.21815A>T (p.Lys7272Met) c.47858A>T (p.Lys15953Met) c.43256A>T (p.Lys14419Met) c.43253A>T (p.Lys14418Met) c.40295A>T (p.Lys13432Met) c.21911A>T (p.Lys7304Met) c.43406A>T (p.Lys14469Met) c.43403A>T (p.Lys14468Met) c.42836A>T (p.Lys14279Met) c.40178A>T (p.Lys13393Met) c.40097A>T (p.Lys13366Met) c.21860A>T (p.Lys7287Met) c.11714A>T (p.Lys3905Met) | |
| 2 | g.178614549T>C | CA349607246 | TTN,TTN-AS1 | c.41261A>G (p.Lys13754Arg) c.22346A>G (p.Lys7449Arg) c.22145A>G (p.Lys7382Arg) c.21770A>G (p.Lys7257Arg) c.48965A>G (p.Lys16322Arg) c.44042A>G (p.Lys14681Arg) n.1297T>C c.48062A>G (p.Lys16021Arg) c.21956A>G (p.Lys7319Arg) c.21815A>G (p.Lys7272Arg) c.47858A>G (p.Lys15953Arg) c.43256A>G (p.Lys14419Arg) c.43253A>G (p.Lys14418Arg) c.40295A>G (p.Lys13432Arg) c.21911A>G (p.Lys7304Arg) c.43406A>G (p.Lys14469Arg) c.43403A>G (p.Lys14468Arg) c.42836A>G (p.Lys14279Arg) c.40178A>G (p.Lys13393Arg) c.40097A>G (p.Lys13366Arg) c.21860A>G (p.Lys7287Arg) c.11714A>G (p.Lys3905Arg) | |
| 2 | g.178614549T>G | CA349607248 | TTN,TTN-AS1 | c.41261A>C (p.Lys13754Thr) c.22346A>C (p.Lys7449Thr) c.22145A>C (p.Lys7382Thr) c.21770A>C (p.Lys7257Thr) c.48965A>C (p.Lys16322Thr) c.44042A>C (p.Lys14681Thr) n.1297T>G c.48062A>C (p.Lys16021Thr) c.21956A>C (p.Lys7319Thr) c.21815A>C (p.Lys7272Thr) c.47858A>C (p.Lys15953Thr) c.43256A>C (p.Lys14419Thr) c.43253A>C (p.Lys14418Thr) c.40295A>C (p.Lys13432Thr) c.21911A>C (p.Lys7304Thr) c.43406A>C (p.Lys14469Thr) c.43403A>C (p.Lys14468Thr) c.42836A>C (p.Lys14279Thr) c.40178A>C (p.Lys13393Thr) c.40097A>C (p.Lys13366Thr) c.21860A>C (p.Lys7287Thr) c.11714A>C (p.Lys3905Thr) | |
| 2 | g.178614550T>A | CA349607252 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614550T>C | CA349607254 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614550T>G | CA349607250 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614551A= | CA1310549416 | TTN,TTN-AS1 | c.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=) | |
| 2 | g.178614551A>C | CA349607256 | TTN,TTN-AS1 | c.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 |
| 2 | g.178614551A>G | CA430273525 | TTN,TTN-AS1 | c.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=) | |
| 2 | g.178614551A>T | CA349607257 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614552C>A | CA349607258 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614552C= | CA1310549417 | TTN,TTN-AS1 | c.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=) | |
| 2 | g.178614552C>G | CA349607259 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614552C>T | CA60987653 | TTN,TTN-AS1 | c.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 |
| 2 | g.178614553T>A | CA349607263 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614553T>C | CA349607264 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614553T>G | CA349607267 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614554A= | CA1310549418 | TTN,TTN-AS1 | c.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=) | |
| 2 | g.178614554A>C | CA349607271 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614554A>G | CA16604152 | TTN,TTN-AS1 | c.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 |
| 2 | g.178614554A>T | CA349607269 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614555_178614558dup | CA2662132184 | TTN,TTN-AS1 | c.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 |
| 2 | g.178614555T>A | CA349607273 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614555T>C | CA349607275 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614555T>G | CA349607277 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614556C>A | CA349607279 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614556C>G | CA349607281 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614556C>T | CA349607282 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614557A>C | CA430273539 | TTN,TTN-AS1 | c.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 |
| 2 | g.178614557A>G | CA430273540 | TTN,TTN-AS1 | c.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=) | |
| 2 | g.178614557A>T | CA430273541 | TTN,TTN-AS1 | c.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=) | |
| 2 | g.178614557_178614558del | CA2517469939 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614558A= | CA1310549419 | TTN,TTN-AS1 | c.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=) | |
| 2 | g.178614558A>C | CA349607287 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614558A>G | CA1994715 | TTN,TTN-AS1 | c.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 |
| 2 | g.178614558A>T | CA349607285 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614559C>A | CA349607288 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614559C>G | CA349607289 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614559C>T | CA349607291 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614560A>C | CA349607293 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614560A>G | CA430273551 | TTN,TTN-AS1 | c.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=) | |
| 2 | g.178614560A>T | CA430273553 | TTN,TTN-AS1 | c.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=) | |
| 2 | g.178614560_178614561insTG | CA2503243495 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614561A= | CA1310549420 | TTN,TTN-AS1 | c.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=) | |
| 2 | g.178614561A>C | CA349607295 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614561A>G | CA139797 | TTN,TTN-AS1 | c.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 |
| 2 | g.178614561A>T | CA349607297 | TTN,TTN-AS1 | c.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) | |
| 2 | g.178614562T>A | CA349607300 | TTN,TTN-AS1 | c.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) |