| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178532101T>A | CA349411491 | TTN,TTN-AS1 | c.96810A>T (p.Arg32270Ser) c.77895A>T (p.Arg25965Ser) c.77694A>T (p.Arg25898Ser) c.77319A>T (p.Arg25773Ser) c.104514A>T (p.Arg34838Ser) c.99591A>T (p.Arg33197Ser) n.446+8465T>A n.220-3631T>A c.103611A>T (p.Arg34537Ser) c.77505A>T (p.Arg25835Ser) c.77364A>T (p.Arg25788Ser) c.103407A>T (p.Arg34469Ser) c.98805A>T (p.Arg32935Ser) c.98802A>T (p.Arg32934Ser) c.95844A>T (p.Arg31948Ser) c.77460A>T (p.Arg25820Ser) c.98955A>T (p.Arg32985Ser) c.98952A>T (p.Arg32984Ser) c.98385A>T (p.Arg32795Ser) c.95727A>T (p.Arg31909Ser) c.95646A>T (p.Arg31882Ser) c.77409A>T (p.Arg25803Ser) c.67263A>T (p.Arg22421Ser) | |
| 2 | g.178532101T>C | CA430235862 | TTN,TTN-AS1 | c.96810A>G (p.Arg32270=) c.77895A>G (p.Arg25965=) c.77694A>G (p.Arg25898=) c.77319A>G (p.Arg25773=) c.104514A>G (p.Arg34838=) c.99591A>G (p.Arg33197=) n.446+8465T>C n.220-3631T>C c.103611A>G (p.Arg34537=) c.77505A>G (p.Arg25835=) c.77364A>G (p.Arg25788=) c.103407A>G (p.Arg34469=) c.98805A>G (p.Arg32935=) c.98802A>G (p.Arg32934=) c.95844A>G (p.Arg31948=) c.77460A>G (p.Arg25820=) c.98955A>G (p.Arg32985=) c.98952A>G (p.Arg32984=) c.98385A>G (p.Arg32795=) c.95727A>G (p.Arg31909=) c.95646A>G (p.Arg31882=) c.77409A>G (p.Arg25803=) c.67263A>G (p.Arg22421=) | |
| 2 | g.178532101T>G | CA349411492 | TTN,TTN-AS1 | c.96810A>C (p.Arg32270Ser) c.77895A>C (p.Arg25965Ser) c.77694A>C (p.Arg25898Ser) c.77319A>C (p.Arg25773Ser) c.104514A>C (p.Arg34838Ser) c.99591A>C (p.Arg33197Ser) n.446+8465T>G n.220-3631T>G c.103611A>C (p.Arg34537Ser) c.77505A>C (p.Arg25835Ser) c.77364A>C (p.Arg25788Ser) c.103407A>C (p.Arg34469Ser) c.98805A>C (p.Arg32935Ser) c.98802A>C (p.Arg32934Ser) c.95844A>C (p.Arg31948Ser) c.77460A>C (p.Arg25820Ser) c.98955A>C (p.Arg32985Ser) c.98952A>C (p.Arg32984Ser) c.98385A>C (p.Arg32795Ser) c.95727A>C (p.Arg31909Ser) c.95646A>C (p.Arg31882Ser) c.77409A>C (p.Arg25803Ser) c.67263A>C (p.Arg22421Ser) | |
| 2 | g.178532102C>A | CA349411494 | TTN,TTN-AS1 | c.96809G>T (p.Arg32270Ile) c.77894G>T (p.Arg25965Ile) c.77693G>T (p.Arg25898Ile) c.77318G>T (p.Arg25773Ile) c.104513G>T (p.Arg34838Ile) c.99590G>T (p.Arg33197Ile) n.446+8466C>A n.220-3630C>A c.103610G>T (p.Arg34537Ile) c.77504G>T (p.Arg25835Ile) c.77363G>T (p.Arg25788Ile) c.103406G>T (p.Arg34469Ile) c.98804G>T (p.Arg32935Ile) c.98801G>T (p.Arg32934Ile) c.95843G>T (p.Arg31948Ile) c.77459G>T (p.Arg25820Ile) c.98954G>T (p.Arg32985Ile) c.98951G>T (p.Arg32984Ile) c.98384G>T (p.Arg32795Ile) c.95726G>T (p.Arg31909Ile) c.95645G>T (p.Arg31882Ile) c.77408G>T (p.Arg25803Ile) c.67262G>T (p.Arg22421Ile) | |
| 2 | g.178532102C>G | CA349411496 | TTN,TTN-AS1 | c.96809G>C (p.Arg32270Thr) c.77894G>C (p.Arg25965Thr) c.77693G>C (p.Arg25898Thr) c.77318G>C (p.Arg25773Thr) c.104513G>C (p.Arg34838Thr) c.99590G>C (p.Arg33197Thr) n.446+8466C>G n.220-3630C>G c.103610G>C (p.Arg34537Thr) c.77504G>C (p.Arg25835Thr) c.77363G>C (p.Arg25788Thr) c.103406G>C (p.Arg34469Thr) c.98804G>C (p.Arg32935Thr) c.98801G>C (p.Arg32934Thr) c.95843G>C (p.Arg31948Thr) c.77459G>C (p.Arg25820Thr) c.98954G>C (p.Arg32985Thr) c.98951G>C (p.Arg32984Thr) c.98384G>C (p.Arg32795Thr) c.95726G>C (p.Arg31909Thr) c.95645G>C (p.Arg31882Thr) c.77408G>C (p.Arg25803Thr) c.67262G>C (p.Arg22421Thr) | |
| 2 | g.178532102C>T | CA349411497 | TTN,TTN-AS1 | c.96809G>A (p.Arg32270Lys) c.77894G>A (p.Arg25965Lys) c.77693G>A (p.Arg25898Lys) c.77318G>A (p.Arg25773Lys) c.104513G>A (p.Arg34838Lys) c.99590G>A (p.Arg33197Lys) n.446+8466C>T n.220-3630C>T c.103610G>A (p.Arg34537Lys) c.77504G>A (p.Arg25835Lys) c.77363G>A (p.Arg25788Lys) c.103406G>A (p.Arg34469Lys) c.98804G>A (p.Arg32935Lys) c.98801G>A (p.Arg32934Lys) c.95843G>A (p.Arg31948Lys) c.77459G>A (p.Arg25820Lys) c.98954G>A (p.Arg32985Lys) c.98951G>A (p.Arg32984Lys) c.98384G>A (p.Arg32795Lys) c.95726G>A (p.Arg31909Lys) c.95645G>A (p.Arg31882Lys) c.77408G>A (p.Arg25803Lys) c.67262G>A (p.Arg22421Lys) | ClinVar |
| 2 | g.178532103T>A | CA349411499 | TTN,TTN-AS1 | c.96808A>T (p.Arg32270Ter) c.77893A>T (p.Arg25965Ter) c.77692A>T (p.Arg25898Ter) c.77317A>T (p.Arg25773Ter) c.104512A>T (p.Arg34838Ter) c.99589A>T (p.Arg33197Ter) n.446+8467T>A n.220-3629T>A c.103609A>T (p.Arg34537Ter) c.77503A>T (p.Arg25835Ter) c.77362A>T (p.Arg25788Ter) c.103405A>T (p.Arg34469Ter) c.98803A>T (p.Arg32935Ter) c.98800A>T (p.Arg32934Ter) c.95842A>T (p.Arg31948Ter) c.77458A>T (p.Arg25820Ter) c.98953A>T (p.Arg32985Ter) c.98950A>T (p.Arg32984Ter) c.98383A>T (p.Arg32795Ter) c.95725A>T (p.Arg31909Ter) c.95644A>T (p.Arg31882Ter) c.77407A>T (p.Arg25803Ter) c.67261A>T (p.Arg22421Ter) | |
| 2 | g.178532103T>C | CA349411500 | TTN,TTN-AS1 | c.96808A>G (p.Arg32270Gly) c.77893A>G (p.Arg25965Gly) c.77692A>G (p.Arg25898Gly) c.77317A>G (p.Arg25773Gly) c.104512A>G (p.Arg34838Gly) c.99589A>G (p.Arg33197Gly) n.446+8467T>C n.220-3629T>C c.103609A>G (p.Arg34537Gly) c.77503A>G (p.Arg25835Gly) c.77362A>G (p.Arg25788Gly) c.103405A>G (p.Arg34469Gly) c.98803A>G (p.Arg32935Gly) c.98800A>G (p.Arg32934Gly) c.95842A>G (p.Arg31948Gly) c.77458A>G (p.Arg25820Gly) c.98953A>G (p.Arg32985Gly) c.98950A>G (p.Arg32984Gly) c.98383A>G (p.Arg32795Gly) c.95725A>G (p.Arg31909Gly) c.95644A>G (p.Arg31882Gly) c.77407A>G (p.Arg25803Gly) c.67261A>G (p.Arg22421Gly) | |
| 2 | g.178532103T>G | CA430235863 | TTN,TTN-AS1 | c.96808A>C (p.Arg32270=) c.77893A>C (p.Arg25965=) c.77692A>C (p.Arg25898=) c.77317A>C (p.Arg25773=) c.104512A>C (p.Arg34838=) c.99589A>C (p.Arg33197=) n.446+8467T>G n.220-3629T>G c.103609A>C (p.Arg34537=) c.77503A>C (p.Arg25835=) c.77362A>C (p.Arg25788=) c.103405A>C (p.Arg34469=) c.98803A>C (p.Arg32935=) c.98800A>C (p.Arg32934=) c.95842A>C (p.Arg31948=) c.77458A>C (p.Arg25820=) c.98953A>C (p.Arg32985=) c.98950A>C (p.Arg32984=) c.98383A>C (p.Arg32795=) c.95725A>C (p.Arg31909=) c.95644A>C (p.Arg31882=) c.77407A>C (p.Arg25803=) c.67261A>C (p.Arg22421=) | ClinVar gnomAD v4 |
| 2 | g.178532104C>A | CA430235864 | TTN,TTN-AS1 | c.96807G>T (p.Leu32269=) c.77892G>T (p.Leu25964=) c.77691G>T (p.Leu25897=) c.77316G>T (p.Leu25772=) c.104511G>T (p.Leu34837=) c.99588G>T (p.Leu33196=) n.446+8468C>A n.220-3628C>A c.103608G>T (p.Leu34536=) c.77502G>T (p.Leu25834=) c.77361G>T (p.Leu25787=) c.103404G>T (p.Leu34468=) c.98802G>T (p.Leu32934=) c.98799G>T (p.Leu32933=) c.95841G>T (p.Leu31947=) c.77457G>T (p.Leu25819=) c.98952G>T (p.Leu32984=) c.98949G>T (p.Leu32983=) c.98382G>T (p.Leu32794=) c.95724G>T (p.Leu31908=) c.95643G>T (p.Leu31881=) c.77406G>T (p.Leu25802=) c.67260G>T (p.Leu22420=) | |
| 2 | g.178532104C= | CA1310518080 | TTN,TTN-AS1 | c.96807G= (p.Leu32269=) c.77892G= (p.Leu25964=) c.77691G= (p.Leu25897=) c.77316G= (p.Leu25772=) c.104511G= (p.Leu34837=) c.99588G= (p.Leu33196=) n.446+8468C= n.220-3628C= c.103608G= (p.Leu34536=) c.77502G= (p.Leu25834=) c.77361G= (p.Leu25787=) c.103404G= (p.Leu34468=) c.98802G= (p.Leu32934=) c.98799G= (p.Leu32933=) c.95841G= (p.Leu31947=) c.77457G= (p.Leu25819=) c.98952G= (p.Leu32984=) c.98949G= (p.Leu32983=) c.98382G= (p.Leu32794=) c.95724G= (p.Leu31908=) c.95643G= (p.Leu31881=) c.77406G= (p.Leu25802=) c.67260G= (p.Leu22420=) | |
| 2 | g.178532104C>G | CA430235865 | TTN,TTN-AS1 | c.96807G>C (p.Leu32269=) c.77892G>C (p.Leu25964=) c.77691G>C (p.Leu25897=) c.77316G>C (p.Leu25772=) c.104511G>C (p.Leu34837=) c.99588G>C (p.Leu33196=) n.446+8468C>G n.220-3628C>G c.103608G>C (p.Leu34536=) c.77502G>C (p.Leu25834=) c.77361G>C (p.Leu25787=) c.103404G>C (p.Leu34468=) c.98802G>C (p.Leu32934=) c.98799G>C (p.Leu32933=) c.95841G>C (p.Leu31947=) c.77457G>C (p.Leu25819=) c.98952G>C (p.Leu32984=) c.98949G>C (p.Leu32983=) c.98382G>C (p.Leu32794=) c.95724G>C (p.Leu31908=) c.95643G>C (p.Leu31881=) c.77406G>C (p.Leu25802=) c.67260G>C (p.Leu22420=) | |
| 2 | g.178532104C>T | CA430235866 | TTN,TTN-AS1 | c.96807G>A (p.Leu32269=) c.77892G>A (p.Leu25964=) c.77691G>A (p.Leu25897=) c.77316G>A (p.Leu25772=) c.104511G>A (p.Leu34837=) c.99588G>A (p.Leu33196=) n.446+8468C>T n.220-3628C>T c.103608G>A (p.Leu34536=) c.77502G>A (p.Leu25834=) c.77361G>A (p.Leu25787=) c.103404G>A (p.Leu34468=) c.98802G>A (p.Leu32934=) c.98799G>A (p.Leu32933=) c.95841G>A (p.Leu31947=) c.77457G>A (p.Leu25819=) c.98952G>A (p.Leu32984=) c.98949G>A (p.Leu32983=) c.98382G>A (p.Leu32794=) c.95724G>A (p.Leu31908=) c.95643G>A (p.Leu31881=) c.77406G>A (p.Leu25802=) c.67260G>A (p.Leu22420=) | dbSNP gnomAD v4 |
| 2 | g.178532104_178532107delinsCAGT | CA1310518081 | TTN,TTN-AS1 | c.96804_96807delinsACTG (p.Leu32268=) c.77889_77892delinsACTG (p.Leu25963=) c.77688_77691delinsACTG (p.Leu25896=) c.77313_77316delinsACTG (p.Leu25771=) c.104508_104511delinsACTG (p.Leu34836=) c.99585_99588delinsACTG (p.Leu33195=) n.446+8468_446+8471delinsCAGT n.220-3628_220-3625delinsCAGT c.103605_103608delinsACTG (p.Leu34535=) c.77499_77502delinsACTG (p.Leu25833=) c.77358_77361delinsACTG (p.Leu25786=) c.103401_103404delinsACTG (p.Leu34467=) c.98799_98802delinsACTG (p.Leu32933=) c.98796_98799delinsACTG (p.Leu32932=) c.95838_95841delinsACTG (p.Leu31946=) c.77454_77457delinsACTG (p.Leu25818=) c.98949_98952delinsACTG (p.Leu32983=) c.98946_98949delinsACTG (p.Leu32982=) c.98379_98382delinsACTG (p.Leu32793=) c.95721_95724delinsACTG (p.Leu31907=) c.95640_95643delinsACTG (p.Leu31880=) c.77403_77406delinsACTG (p.Leu25801=) c.67257_67260delinsACTG (p.Leu22419=) | |
| 2 | g.178532105A>C | CA349411508 | TTN,TTN-AS1 | c.96806T>G (p.Leu32269Arg) c.77891T>G (p.Leu25964Arg) c.77690T>G (p.Leu25897Arg) c.77315T>G (p.Leu25772Arg) c.104510T>G (p.Leu34837Arg) c.99587T>G (p.Leu33196Arg) n.446+8469A>C n.220-3627A>C c.103607T>G (p.Leu34536Arg) c.77501T>G (p.Leu25834Arg) c.77360T>G (p.Leu25787Arg) c.103403T>G (p.Leu34468Arg) c.98801T>G (p.Leu32934Arg) c.98798T>G (p.Leu32933Arg) c.95840T>G (p.Leu31947Arg) c.77456T>G (p.Leu25819Arg) c.98951T>G (p.Leu32984Arg) c.98948T>G (p.Leu32983Arg) c.98381T>G (p.Leu32794Arg) c.95723T>G (p.Leu31908Arg) c.95642T>G (p.Leu31881Arg) c.77405T>G (p.Leu25802Arg) c.67259T>G (p.Leu22420Arg) | gnomAD v4 |
| 2 | g.178532105A>G | CA349411506 | TTN,TTN-AS1 | c.96806T>C (p.Leu32269Pro) c.77891T>C (p.Leu25964Pro) c.77690T>C (p.Leu25897Pro) c.77315T>C (p.Leu25772Pro) c.104510T>C (p.Leu34837Pro) c.99587T>C (p.Leu33196Pro) n.446+8469A>G n.220-3627A>G c.103607T>C (p.Leu34536Pro) c.77501T>C (p.Leu25834Pro) c.77360T>C (p.Leu25787Pro) c.103403T>C (p.Leu34468Pro) c.98801T>C (p.Leu32934Pro) c.98798T>C (p.Leu32933Pro) c.95840T>C (p.Leu31947Pro) c.77456T>C (p.Leu25819Pro) c.98951T>C (p.Leu32984Pro) c.98948T>C (p.Leu32983Pro) c.98381T>C (p.Leu32794Pro) c.95723T>C (p.Leu31908Pro) c.95642T>C (p.Leu31881Pro) c.77405T>C (p.Leu25802Pro) c.67259T>C (p.Leu22420Pro) | |
| 2 | g.178532105A>T | CA349411503 | TTN,TTN-AS1 | c.96806T>A (p.Leu32269Gln) c.77891T>A (p.Leu25964Gln) c.77690T>A (p.Leu25897Gln) c.77315T>A (p.Leu25772Gln) c.104510T>A (p.Leu34837Gln) c.99587T>A (p.Leu33196Gln) n.446+8469A>T n.220-3627A>T c.103607T>A (p.Leu34536Gln) c.77501T>A (p.Leu25834Gln) c.77360T>A (p.Leu25787Gln) c.103403T>A (p.Leu34468Gln) c.98801T>A (p.Leu32934Gln) c.98798T>A (p.Leu32933Gln) c.95840T>A (p.Leu31947Gln) c.77456T>A (p.Leu25819Gln) c.98951T>A (p.Leu32984Gln) c.98948T>A (p.Leu32983Gln) c.98381T>A (p.Leu32794Gln) c.95723T>A (p.Leu31908Gln) c.95642T>A (p.Leu31881Gln) c.77405T>A (p.Leu25802Gln) c.67259T>A (p.Leu22420Gln) | |
| 2 | g.178532105_178532106del | CA2580064585 | TTN,TTN-AS1 | c.96805_96806del (p.Leu32269GlufsTer12) c.77890_77891del (p.Leu25964GlufsTer12) c.77689_77690del (p.Leu25897GlufsTer12) c.77314_77315del (p.Leu25772GlufsTer12) c.104509_104510del (p.Leu34837GlufsTer12) c.99586_99587del (p.Leu33196GlufsTer12) n.446+8469_446+8470del n.220-3627_220-3626del c.103606_103607del (p.Leu34536GlufsTer12) c.77500_77501del (p.Leu25834GlufsTer12) c.77359_77360del (p.Leu25787GlufsTer12) c.103402_103403del (p.Leu34468GlufsTer12) c.98800_98801del (p.Leu32934GlufsTer12) c.98797_98798del (p.Leu32933GlufsTer12) c.95839_95840del (p.Leu31947GlufsTer12) c.77455_77456del (p.Leu25819GlufsTer12) c.98950_98951del (p.Leu32984GlufsTer12) c.98947_98948del (p.Leu32983GlufsTer12) c.98380_98381del (p.Leu32794GlufsTer12) c.95722_95723del (p.Leu31908GlufsTer12) c.95641_95642del (p.Leu31881GlufsTer12) c.77404_77405del (p.Leu25802GlufsTer12) c.67258_67259del (p.Leu22420GlufsTer12) | ClinVar |
| 2 | g.178532108_178532110del | CA1985414 | TTN,TTN-AS1 | c.96804_96806del (p.Leu32269del) c.77889_77891del (p.Leu25964del) c.77688_77690del (p.Leu25897del) c.77313_77315del (p.Leu25772del) c.104508_104510del (p.Leu34837del) c.99585_99587del (p.Leu33196del) n.446+8472_446+8474del n.220-3624_220-3622del c.103605_103607del (p.Leu34536del) c.77499_77501del (p.Leu25834del) c.77358_77360del (p.Leu25787del) c.103401_103403del (p.Leu34468del) c.98799_98801del (p.Leu32934del) c.98796_98798del (p.Leu32933del) c.95838_95840del (p.Leu31947del) c.77454_77456del (p.Leu25819del) c.98949_98951del (p.Leu32984del) c.98946_98948del (p.Leu32983del) c.98379_98381del (p.Leu32794del) c.95721_95723del (p.Leu31908del) c.95640_95642del (p.Leu31881del) c.77403_77405del (p.Leu25802del) c.67257_67259del (p.Leu22420del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178532106G>A | CA430235867 | TTN,TTN-AS1 | c.96805C>T (p.Leu32269=) c.77890C>T (p.Leu25964=) c.77689C>T (p.Leu25897=) c.77314C>T (p.Leu25772=) c.104509C>T (p.Leu34837=) c.99586C>T (p.Leu33196=) n.446+8470G>A n.220-3626G>A c.103606C>T (p.Leu34536=) c.77500C>T (p.Leu25834=) c.77359C>T (p.Leu25787=) c.103402C>T (p.Leu34468=) c.98800C>T (p.Leu32934=) c.98797C>T (p.Leu32933=) c.95839C>T (p.Leu31947=) c.77455C>T (p.Leu25819=) c.98950C>T (p.Leu32984=) c.98947C>T (p.Leu32983=) c.98380C>T (p.Leu32794=) c.95722C>T (p.Leu31908=) c.95641C>T (p.Leu31881=) c.77404C>T (p.Leu25802=) c.67258C>T (p.Leu22420=) | gnomAD v4 |
| 2 | g.178532106G>C | CA349411509 | TTN,TTN-AS1 | c.96805C>G (p.Leu32269Val) c.77890C>G (p.Leu25964Val) c.77689C>G (p.Leu25897Val) c.77314C>G (p.Leu25772Val) c.104509C>G (p.Leu34837Val) c.99586C>G (p.Leu33196Val) n.446+8470G>C n.220-3626G>C c.103606C>G (p.Leu34536Val) c.77500C>G (p.Leu25834Val) c.77359C>G (p.Leu25787Val) c.103402C>G (p.Leu34468Val) c.98800C>G (p.Leu32934Val) c.98797C>G (p.Leu32933Val) c.95839C>G (p.Leu31947Val) c.77455C>G (p.Leu25819Val) c.98950C>G (p.Leu32984Val) c.98947C>G (p.Leu32983Val) c.98380C>G (p.Leu32794Val) c.95722C>G (p.Leu31908Val) c.95641C>G (p.Leu31881Val) c.77404C>G (p.Leu25802Val) c.67258C>G (p.Leu22420Val) | ClinVar gnomAD v4 |
| 2 | g.178532106G>T | CA349411511 | TTN,TTN-AS1 | c.96805C>A (p.Leu32269Met) c.77890C>A (p.Leu25964Met) c.77689C>A (p.Leu25897Met) c.77314C>A (p.Leu25772Met) c.104509C>A (p.Leu34837Met) c.99586C>A (p.Leu33196Met) n.446+8470G>T n.220-3626G>T c.103606C>A (p.Leu34536Met) c.77500C>A (p.Leu25834Met) c.77359C>A (p.Leu25787Met) c.103402C>A (p.Leu34468Met) c.98800C>A (p.Leu32934Met) c.98797C>A (p.Leu32933Met) c.95839C>A (p.Leu31947Met) c.77455C>A (p.Leu25819Met) c.98950C>A (p.Leu32984Met) c.98947C>A (p.Leu32983Met) c.98380C>A (p.Leu32794Met) c.95722C>A (p.Leu31908Met) c.95641C>A (p.Leu31881Met) c.77404C>A (p.Leu25802Met) c.67258C>A (p.Leu22420Met) | |
| 2 | g.178532107T>A | CA430235868 | TTN,TTN-AS1 | c.96804A>T (p.Leu32268=) c.77889A>T (p.Leu25963=) c.77688A>T (p.Leu25896=) c.77313A>T (p.Leu25771=) c.104508A>T (p.Leu34836=) c.99585A>T (p.Leu33195=) n.446+8471T>A n.220-3625T>A c.103605A>T (p.Leu34535=) c.77499A>T (p.Leu25833=) c.77358A>T (p.Leu25786=) c.103401A>T (p.Leu34467=) c.98799A>T (p.Leu32933=) c.98796A>T (p.Leu32932=) c.95838A>T (p.Leu31946=) c.77454A>T (p.Leu25818=) c.98949A>T (p.Leu32983=) c.98946A>T (p.Leu32982=) c.98379A>T (p.Leu32793=) c.95721A>T (p.Leu31907=) c.95640A>T (p.Leu31880=) c.77403A>T (p.Leu25801=) c.67257A>T (p.Leu22419=) | |
| 2 | g.178532107T>C | CA430235869 | TTN,TTN-AS1 | c.96804A>G (p.Leu32268=) c.77889A>G (p.Leu25963=) c.77688A>G (p.Leu25896=) c.77313A>G (p.Leu25771=) c.104508A>G (p.Leu34836=) c.99585A>G (p.Leu33195=) n.446+8471T>C n.220-3625T>C c.103605A>G (p.Leu34535=) c.77499A>G (p.Leu25833=) c.77358A>G (p.Leu25786=) c.103401A>G (p.Leu34467=) c.98799A>G (p.Leu32933=) c.98796A>G (p.Leu32932=) c.95838A>G (p.Leu31946=) c.77454A>G (p.Leu25818=) c.98949A>G (p.Leu32983=) c.98946A>G (p.Leu32982=) c.98379A>G (p.Leu32793=) c.95721A>G (p.Leu31907=) c.95640A>G (p.Leu31880=) c.77403A>G (p.Leu25801=) c.67257A>G (p.Leu22419=) | |
| 2 | g.178532107T>G | CA430235870 | TTN,TTN-AS1 | c.96804A>C (p.Leu32268=) c.77889A>C (p.Leu25963=) c.77688A>C (p.Leu25896=) c.77313A>C (p.Leu25771=) c.104508A>C (p.Leu34836=) c.99585A>C (p.Leu33195=) n.446+8471T>G n.220-3625T>G c.103605A>C (p.Leu34535=) c.77499A>C (p.Leu25833=) c.77358A>C (p.Leu25786=) c.103401A>C (p.Leu34467=) c.98799A>C (p.Leu32933=) c.98796A>C (p.Leu32932=) c.95838A>C (p.Leu31946=) c.77454A>C (p.Leu25818=) c.98949A>C (p.Leu32983=) c.98946A>C (p.Leu32982=) c.98379A>C (p.Leu32793=) c.95721A>C (p.Leu31907=) c.95640A>C (p.Leu31880=) c.77403A>C (p.Leu25801=) c.67257A>C (p.Leu22419=) | |
| 2 | g.178532108A>C | CA349411513 | TTN,TTN-AS1 | c.96803T>G (p.Leu32268Arg) c.77888T>G (p.Leu25963Arg) c.77687T>G (p.Leu25896Arg) c.77312T>G (p.Leu25771Arg) c.104507T>G (p.Leu34836Arg) c.99584T>G (p.Leu33195Arg) n.446+8472A>C n.220-3624A>C c.103604T>G (p.Leu34535Arg) c.77498T>G (p.Leu25833Arg) c.77357T>G (p.Leu25786Arg) c.103400T>G (p.Leu34467Arg) c.98798T>G (p.Leu32933Arg) c.98795T>G (p.Leu32932Arg) c.95837T>G (p.Leu31946Arg) c.77453T>G (p.Leu25818Arg) c.98948T>G (p.Leu32983Arg) c.98945T>G (p.Leu32982Arg) c.98378T>G (p.Leu32793Arg) c.95720T>G (p.Leu31907Arg) c.95639T>G (p.Leu31880Arg) c.77402T>G (p.Leu25801Arg) c.67256T>G (p.Leu22419Arg) | |
| 2 | g.178532108A>G | CA349411514 | TTN,TTN-AS1 | c.96803T>C (p.Leu32268Pro) c.77888T>C (p.Leu25963Pro) c.77687T>C (p.Leu25896Pro) c.77312T>C (p.Leu25771Pro) c.104507T>C (p.Leu34836Pro) c.99584T>C (p.Leu33195Pro) n.446+8472A>G n.220-3624A>G c.103604T>C (p.Leu34535Pro) c.77498T>C (p.Leu25833Pro) c.77357T>C (p.Leu25786Pro) c.103400T>C (p.Leu34467Pro) c.98798T>C (p.Leu32933Pro) c.98795T>C (p.Leu32932Pro) c.95837T>C (p.Leu31946Pro) c.77453T>C (p.Leu25818Pro) c.98948T>C (p.Leu32983Pro) c.98945T>C (p.Leu32982Pro) c.98378T>C (p.Leu32793Pro) c.95720T>C (p.Leu31907Pro) c.95639T>C (p.Leu31880Pro) c.77402T>C (p.Leu25801Pro) c.67256T>C (p.Leu22419Pro) | |
| 2 | g.178532108A>T | CA349411516 | TTN,TTN-AS1 | c.96803T>A (p.Leu32268Gln) c.77888T>A (p.Leu25963Gln) c.77687T>A (p.Leu25896Gln) c.77312T>A (p.Leu25771Gln) c.104507T>A (p.Leu34836Gln) c.99584T>A (p.Leu33195Gln) n.446+8472A>T n.220-3624A>T c.103604T>A (p.Leu34535Gln) c.77498T>A (p.Leu25833Gln) c.77357T>A (p.Leu25786Gln) c.103400T>A (p.Leu34467Gln) c.98798T>A (p.Leu32933Gln) c.98795T>A (p.Leu32932Gln) c.95837T>A (p.Leu31946Gln) c.77453T>A (p.Leu25818Gln) c.98948T>A (p.Leu32983Gln) c.98945T>A (p.Leu32982Gln) c.98378T>A (p.Leu32793Gln) c.95720T>A (p.Leu31907Gln) c.95639T>A (p.Leu31880Gln) c.77402T>A (p.Leu25801Gln) c.67256T>A (p.Leu22419Gln) | |
| 2 | g.178532109G>A | CA430235871 | TTN,TTN-AS1 | c.96802C>T (p.Leu32268=) c.77887C>T (p.Leu25963=) c.77686C>T (p.Leu25896=) c.77311C>T (p.Leu25771=) c.104506C>T (p.Leu34836=) c.99583C>T (p.Leu33195=) n.446+8473G>A n.220-3623G>A c.103603C>T (p.Leu34535=) c.77497C>T (p.Leu25833=) c.77356C>T (p.Leu25786=) c.103399C>T (p.Leu34467=) c.98797C>T (p.Leu32933=) c.98794C>T (p.Leu32932=) c.95836C>T (p.Leu31946=) c.77452C>T (p.Leu25818=) c.98947C>T (p.Leu32983=) c.98944C>T (p.Leu32982=) c.98377C>T (p.Leu32793=) c.95719C>T (p.Leu31907=) c.95638C>T (p.Leu31880=) c.77401C>T (p.Leu25801=) c.67255C>T (p.Leu22419=) | gnomAD v4 |
| 2 | g.178532109G>C | CA349411517 | TTN,TTN-AS1 | c.96802C>G (p.Leu32268Val) c.77887C>G (p.Leu25963Val) c.77686C>G (p.Leu25896Val) c.77311C>G (p.Leu25771Val) c.104506C>G (p.Leu34836Val) c.99583C>G (p.Leu33195Val) n.446+8473G>C n.220-3623G>C c.103603C>G (p.Leu34535Val) c.77497C>G (p.Leu25833Val) c.77356C>G (p.Leu25786Val) c.103399C>G (p.Leu34467Val) c.98797C>G (p.Leu32933Val) c.98794C>G (p.Leu32932Val) c.95836C>G (p.Leu31946Val) c.77452C>G (p.Leu25818Val) c.98947C>G (p.Leu32983Val) c.98944C>G (p.Leu32982Val) c.98377C>G (p.Leu32793Val) c.95719C>G (p.Leu31907Val) c.95638C>G (p.Leu31880Val) c.77401C>G (p.Leu25801Val) c.67255C>G (p.Leu22419Val) | |
| 2 | g.178532109G= | CA1310518082 | TTN,TTN-AS1 | c.96802C= (p.Leu32268=) c.77887C= (p.Leu25963=) c.77686C= (p.Leu25896=) c.77311C= (p.Leu25771=) c.104506C= (p.Leu34836=) c.99583C= (p.Leu33195=) n.446+8473G= n.220-3623G= c.103603C= (p.Leu34535=) c.77497C= (p.Leu25833=) c.77356C= (p.Leu25786=) c.103399C= (p.Leu34467=) c.98797C= (p.Leu32933=) c.98794C= (p.Leu32932=) c.95836C= (p.Leu31946=) c.77452C= (p.Leu25818=) c.98947C= (p.Leu32983=) c.98944C= (p.Leu32982=) c.98377C= (p.Leu32793=) c.95719C= (p.Leu31907=) c.95638C= (p.Leu31880=) c.77401C= (p.Leu25801=) c.67255C= (p.Leu22419=) | |
| 2 | g.178532109G>T | CA349411519 | TTN,TTN-AS1 | c.96802C>A (p.Leu32268Ile) c.77887C>A (p.Leu25963Ile) c.77686C>A (p.Leu25896Ile) c.77311C>A (p.Leu25771Ile) c.104506C>A (p.Leu34836Ile) c.99583C>A (p.Leu33195Ile) n.446+8473G>T n.220-3623G>T c.103603C>A (p.Leu34535Ile) c.77497C>A (p.Leu25833Ile) c.77356C>A (p.Leu25786Ile) c.103399C>A (p.Leu34467Ile) c.98797C>A (p.Leu32933Ile) c.98794C>A (p.Leu32932Ile) c.95836C>A (p.Leu31946Ile) c.77452C>A (p.Leu25818Ile) c.98947C>A (p.Leu32983Ile) c.98944C>A (p.Leu32982Ile) c.98377C>A (p.Leu32793Ile) c.95719C>A (p.Leu31907Ile) c.95638C>A (p.Leu31880Ile) c.77401C>A (p.Leu25801Ile) c.67255C>A (p.Leu22419Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178532110T>A | CA349411521 | TTN,TTN-AS1 | c.96801A>T (p.Arg32267Ser) c.77886A>T (p.Arg25962Ser) c.77685A>T (p.Arg25895Ser) c.77310A>T (p.Arg25770Ser) c.104505A>T (p.Arg34835Ser) c.99582A>T (p.Arg33194Ser) n.446+8474T>A n.220-3622T>A c.103602A>T (p.Arg34534Ser) c.77496A>T (p.Arg25832Ser) c.77355A>T (p.Arg25785Ser) c.103398A>T (p.Arg34466Ser) c.98796A>T (p.Arg32932Ser) c.98793A>T (p.Arg32931Ser) c.95835A>T (p.Arg31945Ser) c.77451A>T (p.Arg25817Ser) c.98946A>T (p.Arg32982Ser) c.98943A>T (p.Arg32981Ser) c.98376A>T (p.Arg32792Ser) c.95718A>T (p.Arg31906Ser) c.95637A>T (p.Arg31879Ser) c.77400A>T (p.Arg25800Ser) c.67254A>T (p.Arg22418Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178532110T>C | CA430235872 | TTN,TTN-AS1 | c.96801A>G (p.Arg32267=) c.77886A>G (p.Arg25962=) c.77685A>G (p.Arg25895=) c.77310A>G (p.Arg25770=) c.104505A>G (p.Arg34835=) c.99582A>G (p.Arg33194=) n.446+8474T>C n.220-3622T>C c.103602A>G (p.Arg34534=) c.77496A>G (p.Arg25832=) c.77355A>G (p.Arg25785=) c.103398A>G (p.Arg34466=) c.98796A>G (p.Arg32932=) c.98793A>G (p.Arg32931=) c.95835A>G (p.Arg31945=) c.77451A>G (p.Arg25817=) c.98946A>G (p.Arg32982=) c.98943A>G (p.Arg32981=) c.98376A>G (p.Arg32792=) c.95718A>G (p.Arg31906=) c.95637A>G (p.Arg31879=) c.77400A>G (p.Arg25800=) c.67254A>G (p.Arg22418=) | |
| 2 | g.178532110T>G | CA349411522 | TTN,TTN-AS1 | c.96801A>C (p.Arg32267Ser) c.77886A>C (p.Arg25962Ser) c.77685A>C (p.Arg25895Ser) c.77310A>C (p.Arg25770Ser) c.104505A>C (p.Arg34835Ser) c.99582A>C (p.Arg33194Ser) n.446+8474T>G n.220-3622T>G c.103602A>C (p.Arg34534Ser) c.77496A>C (p.Arg25832Ser) c.77355A>C (p.Arg25785Ser) c.103398A>C (p.Arg34466Ser) c.98796A>C (p.Arg32932Ser) c.98793A>C (p.Arg32931Ser) c.95835A>C (p.Arg31945Ser) c.77451A>C (p.Arg25817Ser) c.98946A>C (p.Arg32982Ser) c.98943A>C (p.Arg32981Ser) c.98376A>C (p.Arg32792Ser) c.95718A>C (p.Arg31906Ser) c.95637A>C (p.Arg31879Ser) c.77400A>C (p.Arg25800Ser) c.67254A>C (p.Arg22418Ser) | |
| 2 | g.178532110T= | CA1310518083 | TTN,TTN-AS1 | c.96801A= (p.Arg32267=) c.77886A= (p.Arg25962=) c.77685A= (p.Arg25895=) c.77310A= (p.Arg25770=) c.104505A= (p.Arg34835=) c.99582A= (p.Arg33194=) n.446+8474T= n.220-3622T= c.103602A= (p.Arg34534=) c.77496A= (p.Arg25832=) c.77355A= (p.Arg25785=) c.103398A= (p.Arg34466=) c.98796A= (p.Arg32932=) c.98793A= (p.Arg32931=) c.95835A= (p.Arg31945=) c.77451A= (p.Arg25817=) c.98946A= (p.Arg32982=) c.98943A= (p.Arg32981=) c.98376A= (p.Arg32792=) c.95718A= (p.Arg31906=) c.95637A= (p.Arg31879=) c.77400A= (p.Arg25800=) c.67254A= (p.Arg22418=) | |
| 2 | g.178532111C>A | CA349411525 | TTN,TTN-AS1 | c.96800G>T (p.Arg32267Ile) c.77885G>T (p.Arg25962Ile) c.77684G>T (p.Arg25895Ile) c.77309G>T (p.Arg25770Ile) c.104504G>T (p.Arg34835Ile) c.99581G>T (p.Arg33194Ile) n.446+8475C>A n.220-3621C>A c.103601G>T (p.Arg34534Ile) c.77495G>T (p.Arg25832Ile) c.77354G>T (p.Arg25785Ile) c.103397G>T (p.Arg34466Ile) c.98795G>T (p.Arg32932Ile) c.98792G>T (p.Arg32931Ile) c.95834G>T (p.Arg31945Ile) c.77450G>T (p.Arg25817Ile) c.98945G>T (p.Arg32982Ile) c.98942G>T (p.Arg32981Ile) c.98375G>T (p.Arg32792Ile) c.95717G>T (p.Arg31906Ile) c.95636G>T (p.Arg31879Ile) c.77399G>T (p.Arg25800Ile) c.67253G>T (p.Arg22418Ile) | |
| 2 | g.178532111C>G | CA349411526 | TTN,TTN-AS1 | c.96800G>C (p.Arg32267Thr) c.77885G>C (p.Arg25962Thr) c.77684G>C (p.Arg25895Thr) c.77309G>C (p.Arg25770Thr) c.104504G>C (p.Arg34835Thr) c.99581G>C (p.Arg33194Thr) n.446+8475C>G n.220-3621C>G c.103601G>C (p.Arg34534Thr) c.77495G>C (p.Arg25832Thr) c.77354G>C (p.Arg25785Thr) c.103397G>C (p.Arg34466Thr) c.98795G>C (p.Arg32932Thr) c.98792G>C (p.Arg32931Thr) c.95834G>C (p.Arg31945Thr) c.77450G>C (p.Arg25817Thr) c.98945G>C (p.Arg32982Thr) c.98942G>C (p.Arg32981Thr) c.98375G>C (p.Arg32792Thr) c.95717G>C (p.Arg31906Thr) c.95636G>C (p.Arg31879Thr) c.77399G>C (p.Arg25800Thr) c.67253G>C (p.Arg22418Thr) | ClinVar dbSNP |
| 2 | g.178532111C>T | CA349411528 | TTN,TTN-AS1 | c.96800G>A (p.Arg32267Lys) c.77885G>A (p.Arg25962Lys) c.77684G>A (p.Arg25895Lys) c.77309G>A (p.Arg25770Lys) c.104504G>A (p.Arg34835Lys) c.99581G>A (p.Arg33194Lys) n.446+8475C>T n.220-3621C>T c.103601G>A (p.Arg34534Lys) c.77495G>A (p.Arg25832Lys) c.77354G>A (p.Arg25785Lys) c.103397G>A (p.Arg34466Lys) c.98795G>A (p.Arg32932Lys) c.98792G>A (p.Arg32931Lys) c.95834G>A (p.Arg31945Lys) c.77450G>A (p.Arg25817Lys) c.98945G>A (p.Arg32982Lys) c.98942G>A (p.Arg32981Lys) c.98375G>A (p.Arg32792Lys) c.95717G>A (p.Arg31906Lys) c.95636G>A (p.Arg31879Lys) c.77399G>A (p.Arg25800Lys) c.67253G>A (p.Arg22418Lys) | |
| 2 | g.178532112T>A | CA349411531 | TTN,TTN-AS1 | c.96799A>T (p.Arg32267Ter) c.77884A>T (p.Arg25962Ter) c.77683A>T (p.Arg25895Ter) c.77308A>T (p.Arg25770Ter) c.104503A>T (p.Arg34835Ter) c.99580A>T (p.Arg33194Ter) n.446+8476T>A n.220-3620T>A c.103600A>T (p.Arg34534Ter) c.77494A>T (p.Arg25832Ter) c.77353A>T (p.Arg25785Ter) c.103396A>T (p.Arg34466Ter) c.98794A>T (p.Arg32932Ter) c.98791A>T (p.Arg32931Ter) c.95833A>T (p.Arg31945Ter) c.77449A>T (p.Arg25817Ter) c.98944A>T (p.Arg32982Ter) c.98941A>T (p.Arg32981Ter) c.98374A>T (p.Arg32792Ter) c.95716A>T (p.Arg31906Ter) c.95635A>T (p.Arg31879Ter) c.77398A>T (p.Arg25800Ter) c.67252A>T (p.Arg22418Ter) | |
| 2 | g.178532112T>C | CA60956164 | TTN,TTN-AS1 | c.96799A>G (p.Arg32267Gly) c.77884A>G (p.Arg25962Gly) c.77683A>G (p.Arg25895Gly) c.77308A>G (p.Arg25770Gly) c.104503A>G (p.Arg34835Gly) c.99580A>G (p.Arg33194Gly) n.446+8476T>C n.220-3620T>C c.103600A>G (p.Arg34534Gly) c.77494A>G (p.Arg25832Gly) c.77353A>G (p.Arg25785Gly) c.103396A>G (p.Arg34466Gly) c.98794A>G (p.Arg32932Gly) c.98791A>G (p.Arg32931Gly) c.95833A>G (p.Arg31945Gly) c.77449A>G (p.Arg25817Gly) c.98944A>G (p.Arg32982Gly) c.98941A>G (p.Arg32981Gly) c.98374A>G (p.Arg32792Gly) c.95716A>G (p.Arg31906Gly) c.95635A>G (p.Arg31879Gly) c.77398A>G (p.Arg25800Gly) c.67252A>G (p.Arg22418Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178532112T>G | CA430235873 | TTN,TTN-AS1 | c.96799A>C (p.Arg32267=) c.77884A>C (p.Arg25962=) c.77683A>C (p.Arg25895=) c.77308A>C (p.Arg25770=) c.104503A>C (p.Arg34835=) c.99580A>C (p.Arg33194=) n.446+8476T>G n.220-3620T>G c.103600A>C (p.Arg34534=) c.77494A>C (p.Arg25832=) c.77353A>C (p.Arg25785=) c.103396A>C (p.Arg34466=) c.98794A>C (p.Arg32932=) c.98791A>C (p.Arg32931=) c.95833A>C (p.Arg31945=) c.77449A>C (p.Arg25817=) c.98944A>C (p.Arg32982=) c.98941A>C (p.Arg32981=) c.98374A>C (p.Arg32792=) c.95716A>C (p.Arg31906=) c.95635A>C (p.Arg31879=) c.77398A>C (p.Arg25800=) c.67252A>C (p.Arg22418=) | |
| 2 | g.178532112T= | CA1310518084 | TTN,TTN-AS1 | c.96799A= (p.Arg32267=) c.77884A= (p.Arg25962=) c.77683A= (p.Arg25895=) c.77308A= (p.Arg25770=) c.104503A= (p.Arg34835=) c.99580A= (p.Arg33194=) n.446+8476T= n.220-3620T= c.103600A= (p.Arg34534=) c.77494A= (p.Arg25832=) c.77353A= (p.Arg25785=) c.103396A= (p.Arg34466=) c.98794A= (p.Arg32932=) c.98791A= (p.Arg32931=) c.95833A= (p.Arg31945=) c.77449A= (p.Arg25817=) c.98944A= (p.Arg32982=) c.98941A= (p.Arg32981=) c.98374A= (p.Arg32792=) c.95716A= (p.Arg31906=) c.95635A= (p.Arg31879=) c.77398A= (p.Arg25800=) c.67252A= (p.Arg22418=) | |
| 2 | g.178532113A>C | CA430235874 | TTN,TTN-AS1 | c.96798T>G (p.Ser32266=) c.77883T>G (p.Ser25961=) c.77682T>G (p.Ser25894=) c.77307T>G (p.Ser25769=) c.104502T>G (p.Ser34834=) c.99579T>G (p.Ser33193=) n.446+8477A>C n.220-3619A>C c.103599T>G (p.Ser34533=) c.77493T>G (p.Ser25831=) c.77352T>G (p.Ser25784=) c.103395T>G (p.Ser34465=) c.98793T>G (p.Ser32931=) c.98790T>G (p.Ser32930=) c.95832T>G (p.Ser31944=) c.77448T>G (p.Ser25816=) c.98943T>G (p.Ser32981=) c.98940T>G (p.Ser32980=) c.98373T>G (p.Ser32791=) c.95715T>G (p.Ser31905=) c.95634T>G (p.Ser31878=) c.77397T>G (p.Ser25799=) c.67251T>G (p.Ser22417=) | |
| 2 | g.178532113A>G | CA430235875 | TTN,TTN-AS1 | c.96798T>C (p.Ser32266=) c.77883T>C (p.Ser25961=) c.77682T>C (p.Ser25894=) c.77307T>C (p.Ser25769=) c.104502T>C (p.Ser34834=) c.99579T>C (p.Ser33193=) n.446+8477A>G n.220-3619A>G c.103599T>C (p.Ser34533=) c.77493T>C (p.Ser25831=) c.77352T>C (p.Ser25784=) c.103395T>C (p.Ser34465=) c.98793T>C (p.Ser32931=) c.98790T>C (p.Ser32930=) c.95832T>C (p.Ser31944=) c.77448T>C (p.Ser25816=) c.98943T>C (p.Ser32981=) c.98940T>C (p.Ser32980=) c.98373T>C (p.Ser32791=) c.95715T>C (p.Ser31905=) c.95634T>C (p.Ser31878=) c.77397T>C (p.Ser25799=) c.67251T>C (p.Ser22417=) | dbSNP gnomAD v4 |
| 2 | g.178532113A>T | CA430235876 | TTN,TTN-AS1 | c.96798T>A (p.Ser32266=) c.77883T>A (p.Ser25961=) c.77682T>A (p.Ser25894=) c.77307T>A (p.Ser25769=) c.104502T>A (p.Ser34834=) c.99579T>A (p.Ser33193=) n.446+8477A>T n.220-3619A>T c.103599T>A (p.Ser34533=) c.77493T>A (p.Ser25831=) c.77352T>A (p.Ser25784=) c.103395T>A (p.Ser34465=) c.98793T>A (p.Ser32931=) c.98790T>A (p.Ser32930=) c.95832T>A (p.Ser31944=) c.77448T>A (p.Ser25816=) c.98943T>A (p.Ser32981=) c.98940T>A (p.Ser32980=) c.98373T>A (p.Ser32791=) c.95715T>A (p.Ser31905=) c.95634T>A (p.Ser31878=) c.77397T>A (p.Ser25799=) c.67251T>A (p.Ser22417=) | |
| 2 | g.178532114G>A | CA349411533 | TTN,TTN-AS1 | c.96797C>T (p.Ser32266Phe) c.77882C>T (p.Ser25961Phe) c.77681C>T (p.Ser25894Phe) c.77306C>T (p.Ser25769Phe) c.104501C>T (p.Ser34834Phe) c.99578C>T (p.Ser33193Phe) n.446+8478G>A n.220-3618G>A c.103598C>T (p.Ser34533Phe) c.77492C>T (p.Ser25831Phe) c.77351C>T (p.Ser25784Phe) c.103394C>T (p.Ser34465Phe) c.98792C>T (p.Ser32931Phe) c.98789C>T (p.Ser32930Phe) c.95831C>T (p.Ser31944Phe) c.77447C>T (p.Ser25816Phe) c.98942C>T (p.Ser32981Phe) c.98939C>T (p.Ser32980Phe) c.98372C>T (p.Ser32791Phe) c.95714C>T (p.Ser31905Phe) c.95633C>T (p.Ser31878Phe) c.77396C>T (p.Ser25799Phe) c.67250C>T (p.Ser22417Phe) | |
| 2 | g.178532114G>C | CA1985415 | TTN,TTN-AS1 | c.96797C>G (p.Ser32266Cys) c.77882C>G (p.Ser25961Cys) c.77681C>G (p.Ser25894Cys) c.77306C>G (p.Ser25769Cys) c.104501C>G (p.Ser34834Cys) c.99578C>G (p.Ser33193Cys) n.446+8478G>C n.220-3618G>C c.103598C>G (p.Ser34533Cys) c.77492C>G (p.Ser25831Cys) c.77351C>G (p.Ser25784Cys) c.103394C>G (p.Ser34465Cys) c.98792C>G (p.Ser32931Cys) c.98789C>G (p.Ser32930Cys) c.95831C>G (p.Ser31944Cys) c.77447C>G (p.Ser25816Cys) c.98942C>G (p.Ser32981Cys) c.98939C>G (p.Ser32980Cys) c.98372C>G (p.Ser32791Cys) c.95714C>G (p.Ser31905Cys) c.95633C>G (p.Ser31878Cys) c.77396C>G (p.Ser25799Cys) c.67250C>G (p.Ser22417Cys) | ClinVar dbSNP ExAC gnomAD v2 |
| 2 | g.178532114G= | CA1310518085 | TTN,TTN-AS1 | c.96797C= (p.Ser32266=) c.77882C= (p.Ser25961=) c.77681C= (p.Ser25894=) c.77306C= (p.Ser25769=) c.104501C= (p.Ser34834=) c.99578C= (p.Ser33193=) n.446+8478G= n.220-3618G= c.103598C= (p.Ser34533=) c.77492C= (p.Ser25831=) c.77351C= (p.Ser25784=) c.103394C= (p.Ser34465=) c.98792C= (p.Ser32931=) c.98789C= (p.Ser32930=) c.95831C= (p.Ser31944=) c.77447C= (p.Ser25816=) c.98942C= (p.Ser32981=) c.98939C= (p.Ser32980=) c.98372C= (p.Ser32791=) c.95714C= (p.Ser31905=) c.95633C= (p.Ser31878=) c.77396C= (p.Ser25799=) c.67250C= (p.Ser22417=) | |
| 2 | g.178532114G>T | CA349411534 | TTN,TTN-AS1 | c.96797C>A (p.Ser32266Tyr) c.77882C>A (p.Ser25961Tyr) c.77681C>A (p.Ser25894Tyr) c.77306C>A (p.Ser25769Tyr) c.104501C>A (p.Ser34834Tyr) c.99578C>A (p.Ser33193Tyr) n.446+8478G>T n.220-3618G>T c.103598C>A (p.Ser34533Tyr) c.77492C>A (p.Ser25831Tyr) c.77351C>A (p.Ser25784Tyr) c.103394C>A (p.Ser34465Tyr) c.98792C>A (p.Ser32931Tyr) c.98789C>A (p.Ser32930Tyr) c.95831C>A (p.Ser31944Tyr) c.77447C>A (p.Ser25816Tyr) c.98942C>A (p.Ser32981Tyr) c.98939C>A (p.Ser32980Tyr) c.98372C>A (p.Ser32791Tyr) c.95714C>A (p.Ser31905Tyr) c.95633C>A (p.Ser31878Tyr) c.77396C>A (p.Ser25799Tyr) c.67250C>A (p.Ser22417Tyr) |