| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178567382_178567383delinsTA | CA1310529892 | TTN,TTN-AS1 | c.71045_71046delinsTA (p.Leu23682=) c.52130_52131delinsTA (p.Leu17377=) c.51929_51930delinsTA (p.Leu17310=) c.51554_51555delinsTA (p.Leu17185=) c.78749_78750delinsTA (p.Leu26250=) c.73826_73827delinsTA (p.Leu24609=) n.447-3918_447-3917delinsTA n.2044-15190_2044-15189delinsTA c.77846_77847delinsTA (p.Leu25949=) c.51740_51741delinsTA (p.Leu17247=) c.51599_51600delinsTA (p.Leu17200=) c.77642_77643delinsTA (p.Leu25881=) c.73040_73041delinsTA (p.Leu24347=) c.73037_73038delinsTA (p.Leu24346=) c.70079_70080delinsTA (p.Leu23360=) c.51695_51696delinsTA (p.Leu17232=) c.73190_73191delinsTA (p.Leu24397=) c.73187_73188delinsTA (p.Leu24396=) c.72620_72621delinsTA (p.Leu24207=) c.69962_69963delinsTA (p.Leu23321=) c.69881_69882delinsTA (p.Leu23294=) c.51644_51645delinsTA (p.Leu17215=) c.41498_41499delinsTA (p.Leu13833=) | |
| 2 | g.178567383A>C | CA349601292 | TTN,TTN-AS1 | c.71045T>G (p.Leu23682Ter) c.52130T>G (p.Leu17377Ter) c.51929T>G (p.Leu17310Ter) c.51554T>G (p.Leu17185Ter) c.78749T>G (p.Leu26250Ter) c.73826T>G (p.Leu24609Ter) n.447-3917A>C n.2044-15189A>C c.77846T>G (p.Leu25949Ter) c.51740T>G (p.Leu17247Ter) c.51599T>G (p.Leu17200Ter) c.77642T>G (p.Leu25881Ter) c.73040T>G (p.Leu24347Ter) c.73037T>G (p.Leu24346Ter) c.70079T>G (p.Leu23360Ter) c.51695T>G (p.Leu17232Ter) c.73190T>G (p.Leu24397Ter) c.73187T>G (p.Leu24396Ter) c.72620T>G (p.Leu24207Ter) c.69962T>G (p.Leu23321Ter) c.69881T>G (p.Leu23294Ter) c.51644T>G (p.Leu17215Ter) c.41498T>G (p.Leu13833Ter) | |
| 2 | g.178567383A>G | CA349601294 | TTN,TTN-AS1 | c.71045T>C (p.Leu23682Ser) c.52130T>C (p.Leu17377Ser) c.51929T>C (p.Leu17310Ser) c.51554T>C (p.Leu17185Ser) c.78749T>C (p.Leu26250Ser) c.73826T>C (p.Leu24609Ser) n.447-3917A>G n.2044-15189A>G c.77846T>C (p.Leu25949Ser) c.51740T>C (p.Leu17247Ser) c.51599T>C (p.Leu17200Ser) c.77642T>C (p.Leu25881Ser) c.73040T>C (p.Leu24347Ser) c.73037T>C (p.Leu24346Ser) c.70079T>C (p.Leu23360Ser) c.51695T>C (p.Leu17232Ser) c.73190T>C (p.Leu24397Ser) c.73187T>C (p.Leu24396Ser) c.72620T>C (p.Leu24207Ser) c.69962T>C (p.Leu23321Ser) c.69881T>C (p.Leu23294Ser) c.51644T>C (p.Leu17215Ser) c.41498T>C (p.Leu13833Ser) | |
| 2 | g.178567383A>T | CA349601296 | TTN,TTN-AS1 | c.71045T>A (p.Leu23682Ter) c.52130T>A (p.Leu17377Ter) c.51929T>A (p.Leu17310Ter) c.51554T>A (p.Leu17185Ter) c.78749T>A (p.Leu26250Ter) c.73826T>A (p.Leu24609Ter) n.447-3917A>T n.2044-15189A>T c.77846T>A (p.Leu25949Ter) c.51740T>A (p.Leu17247Ter) c.51599T>A (p.Leu17200Ter) c.77642T>A (p.Leu25881Ter) c.73040T>A (p.Leu24347Ter) c.73037T>A (p.Leu24346Ter) c.70079T>A (p.Leu23360Ter) c.51695T>A (p.Leu17232Ter) c.73190T>A (p.Leu24397Ter) c.73187T>A (p.Leu24396Ter) c.72620T>A (p.Leu24207Ter) c.69962T>A (p.Leu23321Ter) c.69881T>A (p.Leu23294Ter) c.51644T>A (p.Leu17215Ter) c.41498T>A (p.Leu13833Ter) | |
| 2 | g.178567385del | CA16617349 | TTN,TTN-AS1 | c.71045del (p.Leu23682TyrfsTer4) c.52130del (p.Leu17377TyrfsTer4) c.51929del (p.Leu17310TyrfsTer4) c.51554del (p.Leu17185TyrfsTer4) c.78749del (p.Leu26250TyrfsTer4) c.73826del (p.Leu24609TyrfsTer4) n.447-3915del n.2044-15187del c.77846del (p.Leu25949TyrfsTer4) c.51740del (p.Leu17247TyrfsTer4) c.51599del (p.Leu17200TyrfsTer4) c.77642del (p.Leu25881TyrfsTer4) c.73040del (p.Leu24347TyrfsTer4) c.73037del (p.Leu24346TyrfsTer4) c.70079del (p.Leu23360TyrfsTer4) c.51695del (p.Leu17232TyrfsTer4) c.73190del (p.Leu24397TyrfsTer4) c.73187del (p.Leu24396TyrfsTer4) c.72620del (p.Leu24207TyrfsTer4) c.69962del (p.Leu23321TyrfsTer4) c.69881del (p.Leu23294TyrfsTer4) c.51644del (p.Leu17215TyrfsTer4) c.41498del (p.Leu13833TyrfsTer4) | ClinVar dbSNP |
| 2 | g.178567384A= | CA1310529893 | TTN,TTN-AS1 | c.71044T= (p.Leu23682=) c.52129T= (p.Leu17377=) c.51928T= (p.Leu17310=) c.51553T= (p.Leu17185=) c.78748T= (p.Leu26250=) c.73825T= (p.Leu24609=) n.447-3916A= n.2044-15188A= c.77845T= (p.Leu25949=) c.51739T= (p.Leu17247=) c.51598T= (p.Leu17200=) c.77641T= (p.Leu25881=) c.73039T= (p.Leu24347=) c.73036T= (p.Leu24346=) c.70078T= (p.Leu23360=) c.51694T= (p.Leu17232=) c.73189T= (p.Leu24397=) c.73186T= (p.Leu24396=) c.72619T= (p.Leu24207=) c.69961T= (p.Leu23321=) c.69880T= (p.Leu23294=) c.51643T= (p.Leu17215=) c.41497T= (p.Leu13833=) | |
| 2 | g.178567384A>C | CA349601300 | TTN,TTN-AS1 | c.71044T>G (p.Leu23682Val) c.52129T>G (p.Leu17377Val) c.51928T>G (p.Leu17310Val) c.51553T>G (p.Leu17185Val) c.78748T>G (p.Leu26250Val) c.73825T>G (p.Leu24609Val) n.447-3916A>C n.2044-15188A>C c.77845T>G (p.Leu25949Val) c.51739T>G (p.Leu17247Val) c.51598T>G (p.Leu17200Val) c.77641T>G (p.Leu25881Val) c.73039T>G (p.Leu24347Val) c.73036T>G (p.Leu24346Val) c.70078T>G (p.Leu23360Val) c.51694T>G (p.Leu17232Val) c.73189T>G (p.Leu24397Val) c.73186T>G (p.Leu24396Val) c.72619T>G (p.Leu24207Val) c.69961T>G (p.Leu23321Val) c.69880T>G (p.Leu23294Val) c.51643T>G (p.Leu17215Val) c.41497T>G (p.Leu13833Val) | |
| 2 | g.178567384A>G | CA60991176 | TTN,TTN-AS1 | c.71044T>C (p.Leu23682=) c.52129T>C (p.Leu17377=) c.51928T>C (p.Leu17310=) c.51553T>C (p.Leu17185=) c.78748T>C (p.Leu26250=) c.73825T>C (p.Leu24609=) n.447-3916A>G n.2044-15188A>G c.77845T>C (p.Leu25949=) c.51739T>C (p.Leu17247=) c.51598T>C (p.Leu17200=) c.77641T>C (p.Leu25881=) c.73039T>C (p.Leu24347=) c.73036T>C (p.Leu24346=) c.70078T>C (p.Leu23360=) c.51694T>C (p.Leu17232=) c.73189T>C (p.Leu24397=) c.73186T>C (p.Leu24396=) c.72619T>C (p.Leu24207=) c.69961T>C (p.Leu23321=) c.69880T>C (p.Leu23294=) c.51643T>C (p.Leu17215=) c.41497T>C (p.Leu13833=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178567384A>T | CA349601298 | TTN,TTN-AS1 | c.71044T>A (p.Leu23682Ile) c.52129T>A (p.Leu17377Ile) c.51928T>A (p.Leu17310Ile) c.51553T>A (p.Leu17185Ile) c.78748T>A (p.Leu26250Ile) c.73825T>A (p.Leu24609Ile) n.447-3916A>T n.2044-15188A>T c.77845T>A (p.Leu25949Ile) c.51739T>A (p.Leu17247Ile) c.51598T>A (p.Leu17200Ile) c.77641T>A (p.Leu25881Ile) c.73039T>A (p.Leu24347Ile) c.73036T>A (p.Leu24346Ile) c.70078T>A (p.Leu23360Ile) c.51694T>A (p.Leu17232Ile) c.73189T>A (p.Leu24397Ile) c.73186T>A (p.Leu24396Ile) c.72619T>A (p.Leu24207Ile) c.69961T>A (p.Leu23321Ile) c.69880T>A (p.Leu23294Ile) c.51643T>A (p.Leu17215Ile) c.41497T>A (p.Leu13833Ile) | |
| 2 | g.178567385A>C | CA430252707 | TTN,TTN-AS1 | c.71043T>G (p.Ala23681=) c.52128T>G (p.Ala17376=) c.51927T>G (p.Ala17309=) c.51552T>G (p.Ala17184=) c.78747T>G (p.Ala26249=) c.73824T>G (p.Ala24608=) n.447-3915A>C n.2044-15187A>C c.77844T>G (p.Ala25948=) c.51738T>G (p.Ala17246=) c.51597T>G (p.Ala17199=) c.77640T>G (p.Ala25880=) c.73038T>G (p.Ala24346=) c.73035T>G (p.Ala24345=) c.70077T>G (p.Ala23359=) c.51693T>G (p.Ala17231=) c.73188T>G (p.Ala24396=) c.73185T>G (p.Ala24395=) c.72618T>G (p.Ala24206=) c.69960T>G (p.Ala23320=) c.69879T>G (p.Ala23293=) c.51642T>G (p.Ala17214=) c.41496T>G (p.Ala13832=) | |
| 2 | g.178567385A>G | CA430252706 | TTN,TTN-AS1 | c.71043T>C (p.Ala23681=) c.52128T>C (p.Ala17376=) c.51927T>C (p.Ala17309=) c.51552T>C (p.Ala17184=) c.78747T>C (p.Ala26249=) c.73824T>C (p.Ala24608=) n.447-3915A>G n.2044-15187A>G c.77844T>C (p.Ala25948=) c.51738T>C (p.Ala17246=) c.51597T>C (p.Ala17199=) c.77640T>C (p.Ala25880=) c.73038T>C (p.Ala24346=) c.73035T>C (p.Ala24345=) c.70077T>C (p.Ala23359=) c.51693T>C (p.Ala17231=) c.73188T>C (p.Ala24396=) c.73185T>C (p.Ala24395=) c.72618T>C (p.Ala24206=) c.69960T>C (p.Ala23320=) c.69879T>C (p.Ala23293=) c.51642T>C (p.Ala17214=) c.41496T>C (p.Ala13832=) | |
| 2 | g.178567385A>T | CA430252705 | TTN,TTN-AS1 | c.71043T>A (p.Ala23681=) c.52128T>A (p.Ala17376=) c.51927T>A (p.Ala17309=) c.51552T>A (p.Ala17184=) c.78747T>A (p.Ala26249=) c.73824T>A (p.Ala24608=) n.447-3915A>T n.2044-15187A>T c.77844T>A (p.Ala25948=) c.51738T>A (p.Ala17246=) c.51597T>A (p.Ala17199=) c.77640T>A (p.Ala25880=) c.73038T>A (p.Ala24346=) c.73035T>A (p.Ala24345=) c.70077T>A (p.Ala23359=) c.51693T>A (p.Ala17231=) c.73188T>A (p.Ala24396=) c.73185T>A (p.Ala24395=) c.72618T>A (p.Ala24206=) c.69960T>A (p.Ala23320=) c.69879T>A (p.Ala23293=) c.51642T>A (p.Ala17214=) c.41496T>A (p.Ala13832=) | |
| 2 | g.178567386G>A | CA349601301 | TTN,TTN-AS1 | c.71042C>T (p.Ala23681Val) c.52127C>T (p.Ala17376Val) c.51926C>T (p.Ala17309Val) c.51551C>T (p.Ala17184Val) c.78746C>T (p.Ala26249Val) c.73823C>T (p.Ala24608Val) n.447-3914G>A n.2044-15186G>A c.77843C>T (p.Ala25948Val) c.51737C>T (p.Ala17246Val) c.51596C>T (p.Ala17199Val) c.77639C>T (p.Ala25880Val) c.73037C>T (p.Ala24346Val) c.73034C>T (p.Ala24345Val) c.70076C>T (p.Ala23359Val) c.51692C>T (p.Ala17231Val) c.73187C>T (p.Ala24396Val) c.73184C>T (p.Ala24395Val) c.72617C>T (p.Ala24206Val) c.69959C>T (p.Ala23320Val) c.69878C>T (p.Ala23293Val) c.51641C>T (p.Ala17214Val) c.41495C>T (p.Ala13832Val) | |
| 2 | g.178567386G>C | CA60991180 | TTN,TTN-AS1 | c.71042C>G (p.Ala23681Gly) c.52127C>G (p.Ala17376Gly) c.51926C>G (p.Ala17309Gly) c.51551C>G (p.Ala17184Gly) c.78746C>G (p.Ala26249Gly) c.73823C>G (p.Ala24608Gly) n.447-3914G>C n.2044-15186G>C c.77843C>G (p.Ala25948Gly) c.51737C>G (p.Ala17246Gly) c.51596C>G (p.Ala17199Gly) c.77639C>G (p.Ala25880Gly) c.73037C>G (p.Ala24346Gly) c.73034C>G (p.Ala24345Gly) c.70076C>G (p.Ala23359Gly) c.51692C>G (p.Ala17231Gly) c.73187C>G (p.Ala24396Gly) c.73184C>G (p.Ala24395Gly) c.72617C>G (p.Ala24206Gly) c.69959C>G (p.Ala23320Gly) c.69878C>G (p.Ala23293Gly) c.51641C>G (p.Ala17214Gly) c.41495C>G (p.Ala13832Gly) | dbSNP |
| 2 | g.178567386G= | CA1310529894 | TTN,TTN-AS1 | c.71042C= (p.Ala23681=) c.52127C= (p.Ala17376=) c.51926C= (p.Ala17309=) c.51551C= (p.Ala17184=) c.78746C= (p.Ala26249=) c.73823C= (p.Ala24608=) n.447-3914G= n.2044-15186G= c.77843C= (p.Ala25948=) c.51737C= (p.Ala17246=) c.51596C= (p.Ala17199=) c.77639C= (p.Ala25880=) c.73037C= (p.Ala24346=) c.73034C= (p.Ala24345=) c.70076C= (p.Ala23359=) c.51692C= (p.Ala17231=) c.73187C= (p.Ala24396=) c.73184C= (p.Ala24395=) c.72617C= (p.Ala24206=) c.69959C= (p.Ala23320=) c.69878C= (p.Ala23293=) c.51641C= (p.Ala17214=) c.41495C= (p.Ala13832=) | |
| 2 | g.178567386G>T | CA349601305 | TTN,TTN-AS1 | c.71042C>A (p.Ala23681Asp) c.52127C>A (p.Ala17376Asp) c.51926C>A (p.Ala17309Asp) c.51551C>A (p.Ala17184Asp) c.78746C>A (p.Ala26249Asp) c.73823C>A (p.Ala24608Asp) n.447-3914G>T n.2044-15186G>T c.77843C>A (p.Ala25948Asp) c.51737C>A (p.Ala17246Asp) c.51596C>A (p.Ala17199Asp) c.77639C>A (p.Ala25880Asp) c.73037C>A (p.Ala24346Asp) c.73034C>A (p.Ala24345Asp) c.70076C>A (p.Ala23359Asp) c.51692C>A (p.Ala17231Asp) c.73187C>A (p.Ala24396Asp) c.73184C>A (p.Ala24395Asp) c.72617C>A (p.Ala24206Asp) c.69959C>A (p.Ala23320Asp) c.69878C>A (p.Ala23293Asp) c.51641C>A (p.Ala17214Asp) c.41495C>A (p.Ala13832Asp) | |
| 2 | g.178567387C>A | CA349601307 | TTN,TTN-AS1 | c.71041G>T (p.Ala23681Ser) c.52126G>T (p.Ala17376Ser) c.51925G>T (p.Ala17309Ser) c.51550G>T (p.Ala17184Ser) c.78745G>T (p.Ala26249Ser) c.73822G>T (p.Ala24608Ser) n.447-3913C>A n.2044-15185C>A c.77842G>T (p.Ala25948Ser) c.51736G>T (p.Ala17246Ser) c.51595G>T (p.Ala17199Ser) c.77638G>T (p.Ala25880Ser) c.73036G>T (p.Ala24346Ser) c.73033G>T (p.Ala24345Ser) c.70075G>T (p.Ala23359Ser) c.51691G>T (p.Ala17231Ser) c.73186G>T (p.Ala24396Ser) c.73183G>T (p.Ala24395Ser) c.72616G>T (p.Ala24206Ser) c.69958G>T (p.Ala23320Ser) c.69877G>T (p.Ala23293Ser) c.51640G>T (p.Ala17214Ser) c.41494G>T (p.Ala13832Ser) | gnomAD v4 |
| 2 | g.178567387C>G | CA349601309 | TTN,TTN-AS1 | c.71041G>C (p.Ala23681Pro) c.52126G>C (p.Ala17376Pro) c.51925G>C (p.Ala17309Pro) c.51550G>C (p.Ala17184Pro) c.78745G>C (p.Ala26249Pro) c.73822G>C (p.Ala24608Pro) n.447-3913C>G n.2044-15185C>G c.77842G>C (p.Ala25948Pro) c.51736G>C (p.Ala17246Pro) c.51595G>C (p.Ala17199Pro) c.77638G>C (p.Ala25880Pro) c.73036G>C (p.Ala24346Pro) c.73033G>C (p.Ala24345Pro) c.70075G>C (p.Ala23359Pro) c.51691G>C (p.Ala17231Pro) c.73186G>C (p.Ala24396Pro) c.73183G>C (p.Ala24395Pro) c.72616G>C (p.Ala24206Pro) c.69958G>C (p.Ala23320Pro) c.69877G>C (p.Ala23293Pro) c.51640G>C (p.Ala17214Pro) c.41494G>C (p.Ala13832Pro) | |
| 2 | g.178567387C>T | CA349601311 | TTN,TTN-AS1 | c.71041G>A (p.Ala23681Thr) c.52126G>A (p.Ala17376Thr) c.51925G>A (p.Ala17309Thr) c.51550G>A (p.Ala17184Thr) c.78745G>A (p.Ala26249Thr) c.73822G>A (p.Ala24608Thr) n.447-3913C>T n.2044-15185C>T c.77842G>A (p.Ala25948Thr) c.51736G>A (p.Ala17246Thr) c.51595G>A (p.Ala17199Thr) c.77638G>A (p.Ala25880Thr) c.73036G>A (p.Ala24346Thr) c.73033G>A (p.Ala24345Thr) c.70075G>A (p.Ala23359Thr) c.51691G>A (p.Ala17231Thr) c.73186G>A (p.Ala24396Thr) c.73183G>A (p.Ala24395Thr) c.72616G>A (p.Ala24206Thr) c.69958G>A (p.Ala23320Thr) c.69877G>A (p.Ala23293Thr) c.51640G>A (p.Ala17214Thr) c.41494G>A (p.Ala13832Thr) | gnomAD v4 |
| 2 | g.178567388C>A | CA349601313 | TTN,TTN-AS1 | c.71040G>T (p.Lys23680Asn) c.52125G>T (p.Lys17375Asn) c.51924G>T (p.Lys17308Asn) c.51549G>T (p.Lys17183Asn) c.78744G>T (p.Lys26248Asn) c.73821G>T (p.Lys24607Asn) n.447-3912C>A n.2044-15184C>A c.77841G>T (p.Lys25947Asn) c.51735G>T (p.Lys17245Asn) c.51594G>T (p.Lys17198Asn) c.77637G>T (p.Lys25879Asn) c.73035G>T (p.Lys24345Asn) c.73032G>T (p.Lys24344Asn) c.70074G>T (p.Lys23358Asn) c.51690G>T (p.Lys17230Asn) c.73185G>T (p.Lys24395Asn) c.73182G>T (p.Lys24394Asn) c.72615G>T (p.Lys24205Asn) c.69957G>T (p.Lys23319Asn) c.69876G>T (p.Lys23292Asn) c.51639G>T (p.Lys17213Asn) c.41493G>T (p.Lys13831Asn) | |
| 2 | g.178567388C>G | CA349601315 | TTN,TTN-AS1 | c.71040G>C (p.Lys23680Asn) c.52125G>C (p.Lys17375Asn) c.51924G>C (p.Lys17308Asn) c.51549G>C (p.Lys17183Asn) c.78744G>C (p.Lys26248Asn) c.73821G>C (p.Lys24607Asn) n.447-3912C>G n.2044-15184C>G c.77841G>C (p.Lys25947Asn) c.51735G>C (p.Lys17245Asn) c.51594G>C (p.Lys17198Asn) c.77637G>C (p.Lys25879Asn) c.73035G>C (p.Lys24345Asn) c.73032G>C (p.Lys24344Asn) c.70074G>C (p.Lys23358Asn) c.51690G>C (p.Lys17230Asn) c.73185G>C (p.Lys24395Asn) c.73182G>C (p.Lys24394Asn) c.72615G>C (p.Lys24205Asn) c.69957G>C (p.Lys23319Asn) c.69876G>C (p.Lys23292Asn) c.51639G>C (p.Lys17213Asn) c.41493G>C (p.Lys13831Asn) | |
| 2 | g.178567388C>T | CA430252714 | TTN,TTN-AS1 | c.71040G>A (p.Lys23680=) c.52125G>A (p.Lys17375=) c.51924G>A (p.Lys17308=) c.51549G>A (p.Lys17183=) c.78744G>A (p.Lys26248=) c.73821G>A (p.Lys24607=) n.447-3912C>T n.2044-15184C>T c.77841G>A (p.Lys25947=) c.51735G>A (p.Lys17245=) c.51594G>A (p.Lys17198=) c.77637G>A (p.Lys25879=) c.73035G>A (p.Lys24345=) c.73032G>A (p.Lys24344=) c.70074G>A (p.Lys23358=) c.51690G>A (p.Lys17230=) c.73185G>A (p.Lys24395=) c.73182G>A (p.Lys24394=) c.72615G>A (p.Lys24205=) c.69957G>A (p.Lys23319=) c.69876G>A (p.Lys23292=) c.51639G>A (p.Lys17213=) c.41493G>A (p.Lys13831=) | |
| 2 | g.178567389T>A | CA349601317 | TTN,TTN-AS1 | c.71039A>T (p.Lys23680Met) c.52124A>T (p.Lys17375Met) c.51923A>T (p.Lys17308Met) c.51548A>T (p.Lys17183Met) c.78743A>T (p.Lys26248Met) c.73820A>T (p.Lys24607Met) n.447-3911T>A n.2044-15183T>A c.77840A>T (p.Lys25947Met) c.51734A>T (p.Lys17245Met) c.51593A>T (p.Lys17198Met) c.77636A>T (p.Lys25879Met) c.73034A>T (p.Lys24345Met) c.73031A>T (p.Lys24344Met) c.70073A>T (p.Lys23358Met) c.51689A>T (p.Lys17230Met) c.73184A>T (p.Lys24395Met) c.73181A>T (p.Lys24394Met) c.72614A>T (p.Lys24205Met) c.69956A>T (p.Lys23319Met) c.69875A>T (p.Lys23292Met) c.51638A>T (p.Lys17213Met) c.41492A>T (p.Lys13831Met) | |
| 2 | g.178567389T>C | CA349601319 | TTN,TTN-AS1 | c.71039A>G (p.Lys23680Arg) c.52124A>G (p.Lys17375Arg) c.51923A>G (p.Lys17308Arg) c.51548A>G (p.Lys17183Arg) c.78743A>G (p.Lys26248Arg) c.73820A>G (p.Lys24607Arg) n.447-3911T>C n.2044-15183T>C c.77840A>G (p.Lys25947Arg) c.51734A>G (p.Lys17245Arg) c.51593A>G (p.Lys17198Arg) c.77636A>G (p.Lys25879Arg) c.73034A>G (p.Lys24345Arg) c.73031A>G (p.Lys24344Arg) c.70073A>G (p.Lys23358Arg) c.51689A>G (p.Lys17230Arg) c.73184A>G (p.Lys24395Arg) c.73181A>G (p.Lys24394Arg) c.72614A>G (p.Lys24205Arg) c.69956A>G (p.Lys23319Arg) c.69875A>G (p.Lys23292Arg) c.51638A>G (p.Lys17213Arg) c.41492A>G (p.Lys13831Arg) | |
| 2 | g.178567389T>G | CA349601321 | TTN,TTN-AS1 | c.71039A>C (p.Lys23680Thr) c.52124A>C (p.Lys17375Thr) c.51923A>C (p.Lys17308Thr) c.51548A>C (p.Lys17183Thr) c.78743A>C (p.Lys26248Thr) c.73820A>C (p.Lys24607Thr) n.447-3911T>G n.2044-15183T>G c.77840A>C (p.Lys25947Thr) c.51734A>C (p.Lys17245Thr) c.51593A>C (p.Lys17198Thr) c.77636A>C (p.Lys25879Thr) c.73034A>C (p.Lys24345Thr) c.73031A>C (p.Lys24344Thr) c.70073A>C (p.Lys23358Thr) c.51689A>C (p.Lys17230Thr) c.73184A>C (p.Lys24395Thr) c.73181A>C (p.Lys24394Thr) c.72614A>C (p.Lys24205Thr) c.69956A>C (p.Lys23319Thr) c.69875A>C (p.Lys23292Thr) c.51638A>C (p.Lys17213Thr) c.41492A>C (p.Lys13831Thr) | |
| 2 | g.178567390T>A | CA349601323 | TTN,TTN-AS1 | c.71038A>T (p.Lys23680Ter) c.52123A>T (p.Lys17375Ter) c.51922A>T (p.Lys17308Ter) c.51547A>T (p.Lys17183Ter) c.78742A>T (p.Lys26248Ter) c.73819A>T (p.Lys24607Ter) n.447-3910T>A n.2044-15182T>A c.77839A>T (p.Lys25947Ter) c.51733A>T (p.Lys17245Ter) c.51592A>T (p.Lys17198Ter) c.77635A>T (p.Lys25879Ter) c.73033A>T (p.Lys24345Ter) c.73030A>T (p.Lys24344Ter) c.70072A>T (p.Lys23358Ter) c.51688A>T (p.Lys17230Ter) c.73183A>T (p.Lys24395Ter) c.73180A>T (p.Lys24394Ter) c.72613A>T (p.Lys24205Ter) c.69955A>T (p.Lys23319Ter) c.69874A>T (p.Lys23292Ter) c.51637A>T (p.Lys17213Ter) c.41491A>T (p.Lys13831Ter) | |
| 2 | g.178567390T>C | CA349601324 | TTN,TTN-AS1 | c.71038A>G (p.Lys23680Glu) c.52123A>G (p.Lys17375Glu) c.51922A>G (p.Lys17308Glu) c.51547A>G (p.Lys17183Glu) c.78742A>G (p.Lys26248Glu) c.73819A>G (p.Lys24607Glu) n.447-3910T>C n.2044-15182T>C c.77839A>G (p.Lys25947Glu) c.51733A>G (p.Lys17245Glu) c.51592A>G (p.Lys17198Glu) c.77635A>G (p.Lys25879Glu) c.73033A>G (p.Lys24345Glu) c.73030A>G (p.Lys24344Glu) c.70072A>G (p.Lys23358Glu) c.51688A>G (p.Lys17230Glu) c.73183A>G (p.Lys24395Glu) c.73180A>G (p.Lys24394Glu) c.72613A>G (p.Lys24205Glu) c.69955A>G (p.Lys23319Glu) c.69874A>G (p.Lys23292Glu) c.51637A>G (p.Lys17213Glu) c.41491A>G (p.Lys13831Glu) | |
| 2 | g.178567390T>G | CA349601326 | TTN,TTN-AS1 | c.71038A>C (p.Lys23680Gln) c.52123A>C (p.Lys17375Gln) c.51922A>C (p.Lys17308Gln) c.51547A>C (p.Lys17183Gln) c.78742A>C (p.Lys26248Gln) c.73819A>C (p.Lys24607Gln) n.447-3910T>G n.2044-15182T>G c.77839A>C (p.Lys25947Gln) c.51733A>C (p.Lys17245Gln) c.51592A>C (p.Lys17198Gln) c.77635A>C (p.Lys25879Gln) c.73033A>C (p.Lys24345Gln) c.73030A>C (p.Lys24344Gln) c.70072A>C (p.Lys23358Gln) c.51688A>C (p.Lys17230Gln) c.73183A>C (p.Lys24395Gln) c.73180A>C (p.Lys24394Gln) c.72613A>C (p.Lys24205Gln) c.69955A>C (p.Lys23319Gln) c.69874A>C (p.Lys23292Gln) c.51637A>C (p.Lys17213Gln) c.41491A>C (p.Lys13831Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178567390T= | CA1310529895 | TTN,TTN-AS1 | c.71038A= (p.Lys23680=) c.52123A= (p.Lys17375=) c.51922A= (p.Lys17308=) c.51547A= (p.Lys17183=) c.78742A= (p.Lys26248=) c.73819A= (p.Lys24607=) n.447-3910T= n.2044-15182T= c.77839A= (p.Lys25947=) c.51733A= (p.Lys17245=) c.51592A= (p.Lys17198=) c.77635A= (p.Lys25879=) c.73033A= (p.Lys24345=) c.73030A= (p.Lys24344=) c.70072A= (p.Lys23358=) c.51688A= (p.Lys17230=) c.73183A= (p.Lys24395=) c.73180A= (p.Lys24394=) c.72613A= (p.Lys24205=) c.69955A= (p.Lys23319=) c.69874A= (p.Lys23292=) c.51637A= (p.Lys17213=) c.41491A= (p.Lys13831=) | |
| 2 | g.178567391G>A | CA430252719 | TTN,TTN-AS1 | c.71037C>T (p.Phe23679=) c.52122C>T (p.Phe17374=) c.51921C>T (p.Phe17307=) c.51546C>T (p.Phe17182=) c.78741C>T (p.Phe26247=) c.73818C>T (p.Phe24606=) n.447-3909G>A n.2044-15181G>A c.77838C>T (p.Phe25946=) c.51732C>T (p.Phe17244=) c.51591C>T (p.Phe17197=) c.77634C>T (p.Phe25878=) c.73032C>T (p.Phe24344=) c.73029C>T (p.Phe24343=) c.70071C>T (p.Phe23357=) c.51687C>T (p.Phe17229=) c.73182C>T (p.Phe24394=) c.73179C>T (p.Phe24393=) c.72612C>T (p.Phe24204=) c.69954C>T (p.Phe23318=) c.69873C>T (p.Phe23291=) c.51636C>T (p.Phe17212=) c.41490C>T (p.Phe13830=) | |
| 2 | g.178567391G>C | CA349601328 | TTN,TTN-AS1 | c.71037C>G (p.Phe23679Leu) c.52122C>G (p.Phe17374Leu) c.51921C>G (p.Phe17307Leu) c.51546C>G (p.Phe17182Leu) c.78741C>G (p.Phe26247Leu) c.73818C>G (p.Phe24606Leu) n.447-3909G>C n.2044-15181G>C c.77838C>G (p.Phe25946Leu) c.51732C>G (p.Phe17244Leu) c.51591C>G (p.Phe17197Leu) c.77634C>G (p.Phe25878Leu) c.73032C>G (p.Phe24344Leu) c.73029C>G (p.Phe24343Leu) c.70071C>G (p.Phe23357Leu) c.51687C>G (p.Phe17229Leu) c.73182C>G (p.Phe24394Leu) c.73179C>G (p.Phe24393Leu) c.72612C>G (p.Phe24204Leu) c.69954C>G (p.Phe23318Leu) c.69873C>G (p.Phe23291Leu) c.51636C>G (p.Phe17212Leu) c.41490C>G (p.Phe13830Leu) | |
| 2 | g.178567391G>T | CA349601330 | TTN,TTN-AS1 | c.71037C>A (p.Phe23679Leu) c.52122C>A (p.Phe17374Leu) c.51921C>A (p.Phe17307Leu) c.51546C>A (p.Phe17182Leu) c.78741C>A (p.Phe26247Leu) c.73818C>A (p.Phe24606Leu) n.447-3909G>T n.2044-15181G>T c.77838C>A (p.Phe25946Leu) c.51732C>A (p.Phe17244Leu) c.51591C>A (p.Phe17197Leu) c.77634C>A (p.Phe25878Leu) c.73032C>A (p.Phe24344Leu) c.73029C>A (p.Phe24343Leu) c.70071C>A (p.Phe23357Leu) c.51687C>A (p.Phe17229Leu) c.73182C>A (p.Phe24394Leu) c.73179C>A (p.Phe24393Leu) c.72612C>A (p.Phe24204Leu) c.69954C>A (p.Phe23318Leu) c.69873C>A (p.Phe23291Leu) c.51636C>A (p.Phe17212Leu) c.41490C>A (p.Phe13830Leu) | |
| 2 | g.178567392A>C | CA349601333 | TTN,TTN-AS1 | c.71036T>G (p.Phe23679Cys) c.52121T>G (p.Phe17374Cys) c.51920T>G (p.Phe17307Cys) c.51545T>G (p.Phe17182Cys) c.78740T>G (p.Phe26247Cys) c.73817T>G (p.Phe24606Cys) n.447-3908A>C n.2044-15180A>C c.77837T>G (p.Phe25946Cys) c.51731T>G (p.Phe17244Cys) c.51590T>G (p.Phe17197Cys) c.77633T>G (p.Phe25878Cys) c.73031T>G (p.Phe24344Cys) c.73028T>G (p.Phe24343Cys) c.70070T>G (p.Phe23357Cys) c.51686T>G (p.Phe17229Cys) c.73181T>G (p.Phe24394Cys) c.73178T>G (p.Phe24393Cys) c.72611T>G (p.Phe24204Cys) c.69953T>G (p.Phe23318Cys) c.69872T>G (p.Phe23291Cys) c.51635T>G (p.Phe17212Cys) c.41489T>G (p.Phe13830Cys) | |
| 2 | g.178567392A>G | CA349601334 | TTN,TTN-AS1 | c.71036T>C (p.Phe23679Ser) c.52121T>C (p.Phe17374Ser) c.51920T>C (p.Phe17307Ser) c.51545T>C (p.Phe17182Ser) c.78740T>C (p.Phe26247Ser) c.73817T>C (p.Phe24606Ser) n.447-3908A>G n.2044-15180A>G c.77837T>C (p.Phe25946Ser) c.51731T>C (p.Phe17244Ser) c.51590T>C (p.Phe17197Ser) c.77633T>C (p.Phe25878Ser) c.73031T>C (p.Phe24344Ser) c.73028T>C (p.Phe24343Ser) c.70070T>C (p.Phe23357Ser) c.51686T>C (p.Phe17229Ser) c.73181T>C (p.Phe24394Ser) c.73178T>C (p.Phe24393Ser) c.72611T>C (p.Phe24204Ser) c.69953T>C (p.Phe23318Ser) c.69872T>C (p.Phe23291Ser) c.51635T>C (p.Phe17212Ser) c.41489T>C (p.Phe13830Ser) | |
| 2 | g.178567392A>T | CA349601336 | TTN,TTN-AS1 | c.71036T>A (p.Phe23679Tyr) c.52121T>A (p.Phe17374Tyr) c.51920T>A (p.Phe17307Tyr) c.51545T>A (p.Phe17182Tyr) c.78740T>A (p.Phe26247Tyr) c.73817T>A (p.Phe24606Tyr) n.447-3908A>T n.2044-15180A>T c.77837T>A (p.Phe25946Tyr) c.51731T>A (p.Phe17244Tyr) c.51590T>A (p.Phe17197Tyr) c.77633T>A (p.Phe25878Tyr) c.73031T>A (p.Phe24344Tyr) c.73028T>A (p.Phe24343Tyr) c.70070T>A (p.Phe23357Tyr) c.51686T>A (p.Phe17229Tyr) c.73181T>A (p.Phe24394Tyr) c.73178T>A (p.Phe24393Tyr) c.72611T>A (p.Phe24204Tyr) c.69953T>A (p.Phe23318Tyr) c.69872T>A (p.Phe23291Tyr) c.51635T>A (p.Phe17212Tyr) c.41489T>A (p.Phe13830Tyr) | |
| 2 | g.178567393A>C | CA349601339 | TTN,TTN-AS1 | c.71035T>G (p.Phe23679Val) c.52120T>G (p.Phe17374Val) c.51919T>G (p.Phe17307Val) c.51544T>G (p.Phe17182Val) c.78739T>G (p.Phe26247Val) c.73816T>G (p.Phe24606Val) n.447-3907A>C n.2044-15179A>C c.77836T>G (p.Phe25946Val) c.51730T>G (p.Phe17244Val) c.51589T>G (p.Phe17197Val) c.77632T>G (p.Phe25878Val) c.73030T>G (p.Phe24344Val) c.73027T>G (p.Phe24343Val) c.70069T>G (p.Phe23357Val) c.51685T>G (p.Phe17229Val) c.73180T>G (p.Phe24394Val) c.73177T>G (p.Phe24393Val) c.72610T>G (p.Phe24204Val) c.69952T>G (p.Phe23318Val) c.69871T>G (p.Phe23291Val) c.51634T>G (p.Phe17212Val) c.41488T>G (p.Phe13830Val) | |
| 2 | g.178567393A>G | CA349601340 | TTN,TTN-AS1 | c.71035T>C (p.Phe23679Leu) c.52120T>C (p.Phe17374Leu) c.51919T>C (p.Phe17307Leu) c.51544T>C (p.Phe17182Leu) c.78739T>C (p.Phe26247Leu) c.73816T>C (p.Phe24606Leu) n.447-3907A>G n.2044-15179A>G c.77836T>C (p.Phe25946Leu) c.51730T>C (p.Phe17244Leu) c.51589T>C (p.Phe17197Leu) c.77632T>C (p.Phe25878Leu) c.73030T>C (p.Phe24344Leu) c.73027T>C (p.Phe24343Leu) c.70069T>C (p.Phe23357Leu) c.51685T>C (p.Phe17229Leu) c.73180T>C (p.Phe24394Leu) c.73177T>C (p.Phe24393Leu) c.72610T>C (p.Phe24204Leu) c.69952T>C (p.Phe23318Leu) c.69871T>C (p.Phe23291Leu) c.51634T>C (p.Phe17212Leu) c.41488T>C (p.Phe13830Leu) | |
| 2 | g.178567393A>T | CA349601342 | TTN,TTN-AS1 | c.71035T>A (p.Phe23679Ile) c.52120T>A (p.Phe17374Ile) c.51919T>A (p.Phe17307Ile) c.51544T>A (p.Phe17182Ile) c.78739T>A (p.Phe26247Ile) c.73816T>A (p.Phe24606Ile) n.447-3907A>T n.2044-15179A>T c.77836T>A (p.Phe25946Ile) c.51730T>A (p.Phe17244Ile) c.51589T>A (p.Phe17197Ile) c.77632T>A (p.Phe25878Ile) c.73030T>A (p.Phe24344Ile) c.73027T>A (p.Phe24343Ile) c.70069T>A (p.Phe23357Ile) c.51685T>A (p.Phe17229Ile) c.73180T>A (p.Phe24394Ile) c.73177T>A (p.Phe24393Ile) c.72610T>A (p.Phe24204Ile) c.69952T>A (p.Phe23318Ile) c.69871T>A (p.Phe23291Ile) c.51634T>A (p.Phe17212Ile) c.41488T>A (p.Phe13830Ile) | |
| 2 | g.178567394A>C | CA349601344 | TTN,TTN-AS1 | c.71034T>G (p.Asp23678Glu) c.52119T>G (p.Asp17373Glu) c.51918T>G (p.Asp17306Glu) c.51543T>G (p.Asp17181Glu) c.78738T>G (p.Asp26246Glu) c.73815T>G (p.Asp24605Glu) n.447-3906A>C n.2044-15178A>C c.77835T>G (p.Asp25945Glu) c.51729T>G (p.Asp17243Glu) c.51588T>G (p.Asp17196Glu) c.77631T>G (p.Asp25877Glu) c.73029T>G (p.Asp24343Glu) c.73026T>G (p.Asp24342Glu) c.70068T>G (p.Asp23356Glu) c.51684T>G (p.Asp17228Glu) c.73179T>G (p.Asp24393Glu) c.73176T>G (p.Asp24392Glu) c.72609T>G (p.Asp24203Glu) c.69951T>G (p.Asp23317Glu) c.69870T>G (p.Asp23290Glu) c.51633T>G (p.Asp17211Glu) c.41487T>G (p.Asp13829Glu) | |
| 2 | g.178567394A>G | CA430252725 | TTN,TTN-AS1 | c.71034T>C (p.Asp23678=) c.52119T>C (p.Asp17373=) c.51918T>C (p.Asp17306=) c.51543T>C (p.Asp17181=) c.78738T>C (p.Asp26246=) c.73815T>C (p.Asp24605=) n.447-3906A>G n.2044-15178A>G c.77835T>C (p.Asp25945=) c.51729T>C (p.Asp17243=) c.51588T>C (p.Asp17196=) c.77631T>C (p.Asp25877=) c.73029T>C (p.Asp24343=) c.73026T>C (p.Asp24342=) c.70068T>C (p.Asp23356=) c.51684T>C (p.Asp17228=) c.73179T>C (p.Asp24393=) c.73176T>C (p.Asp24392=) c.72609T>C (p.Asp24203=) c.69951T>C (p.Asp23317=) c.69870T>C (p.Asp23290=) c.51633T>C (p.Asp17211=) c.41487T>C (p.Asp13829=) | |
| 2 | g.178567394A>T | CA349601346 | TTN,TTN-AS1 | c.71034T>A (p.Asp23678Glu) c.52119T>A (p.Asp17373Glu) c.51918T>A (p.Asp17306Glu) c.51543T>A (p.Asp17181Glu) c.78738T>A (p.Asp26246Glu) c.73815T>A (p.Asp24605Glu) n.447-3906A>T n.2044-15178A>T c.77835T>A (p.Asp25945Glu) c.51729T>A (p.Asp17243Glu) c.51588T>A (p.Asp17196Glu) c.77631T>A (p.Asp25877Glu) c.73029T>A (p.Asp24343Glu) c.73026T>A (p.Asp24342Glu) c.70068T>A (p.Asp23356Glu) c.51684T>A (p.Asp17228Glu) c.73179T>A (p.Asp24393Glu) c.73176T>A (p.Asp24392Glu) c.72609T>A (p.Asp24203Glu) c.69951T>A (p.Asp23317Glu) c.69870T>A (p.Asp23290Glu) c.51633T>A (p.Asp17211Glu) c.41487T>A (p.Asp13829Glu) | |
| 2 | g.178567395T>A | CA349601348 | TTN,TTN-AS1 | c.71033A>T (p.Asp23678Val) c.52118A>T (p.Asp17373Val) c.51917A>T (p.Asp17306Val) c.51542A>T (p.Asp17181Val) c.78737A>T (p.Asp26246Val) c.73814A>T (p.Asp24605Val) n.447-3905T>A n.2044-15177T>A c.77834A>T (p.Asp25945Val) c.51728A>T (p.Asp17243Val) c.51587A>T (p.Asp17196Val) c.77630A>T (p.Asp25877Val) c.73028A>T (p.Asp24343Val) c.73025A>T (p.Asp24342Val) c.70067A>T (p.Asp23356Val) c.51683A>T (p.Asp17228Val) c.73178A>T (p.Asp24393Val) c.73175A>T (p.Asp24392Val) c.72608A>T (p.Asp24203Val) c.69950A>T (p.Asp23317Val) c.69869A>T (p.Asp23290Val) c.51632A>T (p.Asp17211Val) c.41486A>T (p.Asp13829Val) | |
| 2 | g.178567395T>C | CA349601350 | TTN,TTN-AS1 | c.71033A>G (p.Asp23678Gly) c.52118A>G (p.Asp17373Gly) c.51917A>G (p.Asp17306Gly) c.51542A>G (p.Asp17181Gly) c.78737A>G (p.Asp26246Gly) c.73814A>G (p.Asp24605Gly) n.447-3905T>C n.2044-15177T>C c.77834A>G (p.Asp25945Gly) c.51728A>G (p.Asp17243Gly) c.51587A>G (p.Asp17196Gly) c.77630A>G (p.Asp25877Gly) c.73028A>G (p.Asp24343Gly) c.73025A>G (p.Asp24342Gly) c.70067A>G (p.Asp23356Gly) c.51683A>G (p.Asp17228Gly) c.73178A>G (p.Asp24393Gly) c.73175A>G (p.Asp24392Gly) c.72608A>G (p.Asp24203Gly) c.69950A>G (p.Asp23317Gly) c.69869A>G (p.Asp23290Gly) c.51632A>G (p.Asp17211Gly) c.41486A>G (p.Asp13829Gly) | |
| 2 | g.178567395T>G | CA349601352 | TTN,TTN-AS1 | c.71033A>C (p.Asp23678Ala) c.52118A>C (p.Asp17373Ala) c.51917A>C (p.Asp17306Ala) c.51542A>C (p.Asp17181Ala) c.78737A>C (p.Asp26246Ala) c.73814A>C (p.Asp24605Ala) n.447-3905T>G n.2044-15177T>G c.77834A>C (p.Asp25945Ala) c.51728A>C (p.Asp17243Ala) c.51587A>C (p.Asp17196Ala) c.77630A>C (p.Asp25877Ala) c.73028A>C (p.Asp24343Ala) c.73025A>C (p.Asp24342Ala) c.70067A>C (p.Asp23356Ala) c.51683A>C (p.Asp17228Ala) c.73178A>C (p.Asp24393Ala) c.73175A>C (p.Asp24392Ala) c.72608A>C (p.Asp24203Ala) c.69950A>C (p.Asp23317Ala) c.69869A>C (p.Asp23290Ala) c.51632A>C (p.Asp17211Ala) c.41486A>C (p.Asp13829Ala) | |
| 2 | g.178567396C>A | CA349601357 | TTN,TTN-AS1 | c.71032G>T (p.Asp23678Tyr) c.52117G>T (p.Asp17373Tyr) c.51916G>T (p.Asp17306Tyr) c.51541G>T (p.Asp17181Tyr) c.78736G>T (p.Asp26246Tyr) c.73813G>T (p.Asp24605Tyr) n.447-3904C>A n.2044-15176C>A c.77833G>T (p.Asp25945Tyr) c.51727G>T (p.Asp17243Tyr) c.51586G>T (p.Asp17196Tyr) c.77629G>T (p.Asp25877Tyr) c.73027G>T (p.Asp24343Tyr) c.73024G>T (p.Asp24342Tyr) c.70066G>T (p.Asp23356Tyr) c.51682G>T (p.Asp17228Tyr) c.73177G>T (p.Asp24393Tyr) c.73174G>T (p.Asp24392Tyr) c.72607G>T (p.Asp24203Tyr) c.69949G>T (p.Asp23317Tyr) c.69868G>T (p.Asp23290Tyr) c.51631G>T (p.Asp17211Tyr) c.41485G>T (p.Asp13829Tyr) | |
| 2 | g.178567396C= | CA1310529896 | TTN,TTN-AS1 | c.71032G= (p.Asp23678=) c.52117G= (p.Asp17373=) c.51916G= (p.Asp17306=) c.51541G= (p.Asp17181=) c.78736G= (p.Asp26246=) c.73813G= (p.Asp24605=) n.447-3904C= n.2044-15176C= c.77833G= (p.Asp25945=) c.51727G= (p.Asp17243=) c.51586G= (p.Asp17196=) c.77629G= (p.Asp25877=) c.73027G= (p.Asp24343=) c.73024G= (p.Asp24342=) c.70066G= (p.Asp23356=) c.51682G= (p.Asp17228=) c.73177G= (p.Asp24393=) c.73174G= (p.Asp24392=) c.72607G= (p.Asp24203=) c.69949G= (p.Asp23317=) c.69868G= (p.Asp23290=) c.51631G= (p.Asp17211=) c.41485G= (p.Asp13829=) | |
| 2 | g.178567396C>G | CA349601355 | TTN,TTN-AS1 | c.71032G>C (p.Asp23678His) c.52117G>C (p.Asp17373His) c.51916G>C (p.Asp17306His) c.51541G>C (p.Asp17181His) c.78736G>C (p.Asp26246His) c.73813G>C (p.Asp24605His) n.447-3904C>G n.2044-15176C>G c.77833G>C (p.Asp25945His) c.51727G>C (p.Asp17243His) c.51586G>C (p.Asp17196His) c.77629G>C (p.Asp25877His) c.73027G>C (p.Asp24343His) c.73024G>C (p.Asp24342His) c.70066G>C (p.Asp23356His) c.51682G>C (p.Asp17228His) c.73177G>C (p.Asp24393His) c.73174G>C (p.Asp24392His) c.72607G>C (p.Asp24203His) c.69949G>C (p.Asp23317His) c.69868G>C (p.Asp23290His) c.51631G>C (p.Asp17211His) c.41485G>C (p.Asp13829His) | |
| 2 | g.178567396C>T | CA60991185 | TTN,TTN-AS1 | c.71032G>A (p.Asp23678Asn) c.52117G>A (p.Asp17373Asn) c.51916G>A (p.Asp17306Asn) c.51541G>A (p.Asp17181Asn) c.78736G>A (p.Asp26246Asn) c.73813G>A (p.Asp24605Asn) n.447-3904C>T n.2044-15176C>T c.77833G>A (p.Asp25945Asn) c.51727G>A (p.Asp17243Asn) c.51586G>A (p.Asp17196Asn) c.77629G>A (p.Asp25877Asn) c.73027G>A (p.Asp24343Asn) c.73024G>A (p.Asp24342Asn) c.70066G>A (p.Asp23356Asn) c.51682G>A (p.Asp17228Asn) c.73177G>A (p.Asp24393Asn) c.73174G>A (p.Asp24392Asn) c.72607G>A (p.Asp24203Asn) c.69949G>A (p.Asp23317Asn) c.69868G>A (p.Asp23290Asn) c.51631G>A (p.Asp17211Asn) c.41485G>A (p.Asp13829Asn) | dbSNP gnomAD v4 |
| 2 | g.178567397T>A | CA430252730 | TTN,TTN-AS1 | c.71031A>T (p.Thr23677=) c.52116A>T (p.Thr17372=) c.51915A>T (p.Thr17305=) c.51540A>T (p.Thr17180=) c.78735A>T (p.Thr26245=) c.73812A>T (p.Thr24604=) n.447-3903T>A n.2044-15175T>A c.77832A>T (p.Thr25944=) c.51726A>T (p.Thr17242=) c.51585A>T (p.Thr17195=) c.77628A>T (p.Thr25876=) c.73026A>T (p.Thr24342=) c.73023A>T (p.Thr24341=) c.70065A>T (p.Thr23355=) c.51681A>T (p.Thr17227=) c.73176A>T (p.Thr24392=) c.73173A>T (p.Thr24391=) c.72606A>T (p.Thr24202=) c.69948A>T (p.Thr23316=) c.69867A>T (p.Thr23289=) c.51630A>T (p.Thr17210=) c.41484A>T (p.Thr13828=) | |
| 2 | g.178567397T>C | CA430252731 | TTN,TTN-AS1 | c.71031A>G (p.Thr23677=) c.52116A>G (p.Thr17372=) c.51915A>G (p.Thr17305=) c.51540A>G (p.Thr17180=) c.78735A>G (p.Thr26245=) c.73812A>G (p.Thr24604=) n.447-3903T>C n.2044-15175T>C c.77832A>G (p.Thr25944=) c.51726A>G (p.Thr17242=) c.51585A>G (p.Thr17195=) c.77628A>G (p.Thr25876=) c.73026A>G (p.Thr24342=) c.73023A>G (p.Thr24341=) c.70065A>G (p.Thr23355=) c.51681A>G (p.Thr17227=) c.73176A>G (p.Thr24392=) c.73173A>G (p.Thr24391=) c.72606A>G (p.Thr24202=) c.69948A>G (p.Thr23316=) c.69867A>G (p.Thr23289=) c.51630A>G (p.Thr17210=) c.41484A>G (p.Thr13828=) |