| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178559828_178559842delinsAGCCTTGACAATCAA | CA1310526801 | TTN,TTN-AS1 | c.78586_78600delinsTTGATTGTCAAGGCT (p.Leu26196=) c.59671_59685delinsTTGATTGTCAAGGCT (p.Leu19891=) c.59470_59484delinsTTGATTGTCAAGGCT (p.Leu19824=) c.59095_59109delinsTTGATTGTCAAGGCT (p.Leu19699=) c.86290_86304delinsTTGATTGTCAAGGCT (p.Leu28764=) c.81367_81381delinsTTGATTGTCAAGGCT (p.Leu27123=) n.447-11472_447-11458delinsAGCCTTGACAATCAA n.2043+17467_2043+17481delinsAGCCTTGACAATCAA c.85387_85401delinsTTGATTGTCAAGGCT (p.Leu28463=) c.59281_59295delinsTTGATTGTCAAGGCT (p.Leu19761=) c.59140_59154delinsTTGATTGTCAAGGCT (p.Leu19714=) c.85183_85197delinsTTGATTGTCAAGGCT (p.Leu28395=) c.80581_80595delinsTTGATTGTCAAGGCT (p.Leu26861=) c.80578_80592delinsTTGATTGTCAAGGCT (p.Leu26860=) c.77620_77634delinsTTGATTGTCAAGGCT (p.Leu25874=) c.59236_59250delinsTTGATTGTCAAGGCT (p.Leu19746=) c.80731_80745delinsTTGATTGTCAAGGCT (p.Leu26911=) c.80728_80742delinsTTGATTGTCAAGGCT (p.Leu26910=) c.80161_80175delinsTTGATTGTCAAGGCT (p.Leu26721=) c.77503_77517delinsTTGATTGTCAAGGCT (p.Leu25835=) c.77422_77436delinsTTGATTGTCAAGGCT (p.Leu25808=) c.59185_59199delinsTTGATTGTCAAGGCT (p.Leu19729=) c.49039_49053delinsTTGATTGTCAAGGCT (p.Leu16347=) | |
| 2 | g.178559829G>A | CA349544810 | TTN,TTN-AS1 | c.78599C>T (p.Ala26200Val) c.59684C>T (p.Ala19895Val) c.59483C>T (p.Ala19828Val) c.59108C>T (p.Ala19703Val) c.86303C>T (p.Ala28768Val) c.81380C>T (p.Ala27127Val) n.447-11471G>A n.2043+17468G>A c.85400C>T (p.Ala28467Val) c.59294C>T (p.Ala19765Val) c.59153C>T (p.Ala19718Val) c.85196C>T (p.Ala28399Val) c.80594C>T (p.Ala26865Val) c.80591C>T (p.Ala26864Val) c.77633C>T (p.Ala25878Val) c.59249C>T (p.Ala19750Val) c.80744C>T (p.Ala26915Val) c.80741C>T (p.Ala26914Val) c.80174C>T (p.Ala26725Val) c.77516C>T (p.Ala25839Val) c.77435C>T (p.Ala25812Val) c.59198C>T (p.Ala19733Val) c.49052C>T (p.Ala16351Val) | |
| 2 | g.178559829G>C | CA349544814 | TTN,TTN-AS1 | c.78599C>G (p.Ala26200Gly) c.59684C>G (p.Ala19895Gly) c.59483C>G (p.Ala19828Gly) c.59108C>G (p.Ala19703Gly) c.86303C>G (p.Ala28768Gly) c.81380C>G (p.Ala27127Gly) n.447-11471G>C n.2043+17468G>C c.85400C>G (p.Ala28467Gly) c.59294C>G (p.Ala19765Gly) c.59153C>G (p.Ala19718Gly) c.85196C>G (p.Ala28399Gly) c.80594C>G (p.Ala26865Gly) c.80591C>G (p.Ala26864Gly) c.77633C>G (p.Ala25878Gly) c.59249C>G (p.Ala19750Gly) c.80744C>G (p.Ala26915Gly) c.80741C>G (p.Ala26914Gly) c.80174C>G (p.Ala26725Gly) c.77516C>G (p.Ala25839Gly) c.77435C>G (p.Ala25812Gly) c.59198C>G (p.Ala19733Gly) c.49052C>G (p.Ala16351Gly) | |
| 2 | g.178559829G>T | CA349544819 | TTN,TTN-AS1 | c.78599C>A (p.Ala26200Asp) c.59684C>A (p.Ala19895Asp) c.59483C>A (p.Ala19828Asp) c.59108C>A (p.Ala19703Asp) c.86303C>A (p.Ala28768Asp) c.81380C>A (p.Ala27127Asp) n.447-11471G>T n.2043+17468G>T c.85400C>A (p.Ala28467Asp) c.59294C>A (p.Ala19765Asp) c.59153C>A (p.Ala19718Asp) c.85196C>A (p.Ala28399Asp) c.80594C>A (p.Ala26865Asp) c.80591C>A (p.Ala26864Asp) c.77633C>A (p.Ala25878Asp) c.59249C>A (p.Ala19750Asp) c.80744C>A (p.Ala26915Asp) c.80741C>A (p.Ala26914Asp) c.80174C>A (p.Ala26725Asp) c.77516C>A (p.Ala25839Asp) c.77435C>A (p.Ala25812Asp) c.59198C>A (p.Ala19733Asp) c.49052C>A (p.Ala16351Asp) | gnomAD v4 |
| 2 | g.178559829_178559842delinsT | CA16610264 | TTN,TTN-AS1 | c.78586_78599delinsA (p.Leu26196MetfsTer7) c.59671_59684delinsA (p.Leu19891MetfsTer7) c.59470_59483delinsA (p.Leu19824MetfsTer7) c.59095_59108delinsA (p.Leu19699MetfsTer7) c.86290_86303delinsA (p.Leu28764MetfsTer7) c.81367_81380delinsA (p.Leu27123MetfsTer7) n.447-11471_447-11458delinsT n.2043+17468_2043+17481delinsT c.85387_85400delinsA (p.Leu28463MetfsTer7) c.59281_59294delinsA (p.Leu19761MetfsTer7) c.59140_59153delinsA (p.Leu19714MetfsTer7) c.85183_85196delinsA (p.Leu28395MetfsTer7) c.80581_80594delinsA (p.Leu26861MetfsTer7) c.80578_80591delinsA (p.Leu26860MetfsTer7) c.77620_77633delinsA (p.Leu25874MetfsTer7) c.59236_59249delinsA (p.Leu19746MetfsTer7) c.80731_80744delinsA (p.Leu26911MetfsTer7) c.80728_80741delinsA (p.Leu26910MetfsTer7) c.80161_80174delinsA (p.Leu26721MetfsTer7) c.77503_77516delinsA (p.Leu25835MetfsTer7) c.77422_77435delinsA (p.Leu25808MetfsTer7) c.59185_59198delinsA (p.Leu19729MetfsTer7) c.49039_49052delinsA (p.Leu16347MetfsTer7) | ClinVar dbSNP |
| 2 | g.178559830C>A | CA349544831 | TTN,TTN-AS1 | c.78598G>T (p.Ala26200Ser) c.59683G>T (p.Ala19895Ser) c.59482G>T (p.Ala19828Ser) c.59107G>T (p.Ala19703Ser) c.86302G>T (p.Ala28768Ser) c.81379G>T (p.Ala27127Ser) n.447-11470C>A n.2043+17469C>A c.85399G>T (p.Ala28467Ser) c.59293G>T (p.Ala19765Ser) c.59152G>T (p.Ala19718Ser) c.85195G>T (p.Ala28399Ser) c.80593G>T (p.Ala26865Ser) c.80590G>T (p.Ala26864Ser) c.77632G>T (p.Ala25878Ser) c.59248G>T (p.Ala19750Ser) c.80743G>T (p.Ala26915Ser) c.80740G>T (p.Ala26914Ser) c.80173G>T (p.Ala26725Ser) c.77515G>T (p.Ala25839Ser) c.77434G>T (p.Ala25812Ser) c.59197G>T (p.Ala19733Ser) c.49051G>T (p.Ala16351Ser) | dbSNP gnomAD v4 |
| 2 | g.178559830C= | CA1310526802 | TTN,TTN-AS1 | c.78598G= (p.Ala26200=) c.59683G= (p.Ala19895=) c.59482G= (p.Ala19828=) c.59107G= (p.Ala19703=) c.86302G= (p.Ala28768=) c.81379G= (p.Ala27127=) n.447-11470C= n.2043+17469C= c.85399G= (p.Ala28467=) c.59293G= (p.Ala19765=) c.59152G= (p.Ala19718=) c.85195G= (p.Ala28399=) c.80593G= (p.Ala26865=) c.80590G= (p.Ala26864=) c.77632G= (p.Ala25878=) c.59248G= (p.Ala19750=) c.80743G= (p.Ala26915=) c.80740G= (p.Ala26914=) c.80173G= (p.Ala26725=) c.77515G= (p.Ala25839=) c.77434G= (p.Ala25812=) c.59197G= (p.Ala19733=) c.49051G= (p.Ala16351=) | |
| 2 | g.178559830C>G | CA349544835 | TTN,TTN-AS1 | c.78598G>C (p.Ala26200Pro) c.59683G>C (p.Ala19895Pro) c.59482G>C (p.Ala19828Pro) c.59107G>C (p.Ala19703Pro) c.86302G>C (p.Ala28768Pro) c.81379G>C (p.Ala27127Pro) n.447-11470C>G n.2043+17469C>G c.85399G>C (p.Ala28467Pro) c.59293G>C (p.Ala19765Pro) c.59152G>C (p.Ala19718Pro) c.85195G>C (p.Ala28399Pro) c.80593G>C (p.Ala26865Pro) c.80590G>C (p.Ala26864Pro) c.77632G>C (p.Ala25878Pro) c.59248G>C (p.Ala19750Pro) c.80743G>C (p.Ala26915Pro) c.80740G>C (p.Ala26914Pro) c.80173G>C (p.Ala26725Pro) c.77515G>C (p.Ala25839Pro) c.77434G>C (p.Ala25812Pro) c.59197G>C (p.Ala19733Pro) c.49051G>C (p.Ala16351Pro) | gnomAD v4 |
| 2 | g.178559830C>T | CA60984018 | TTN,TTN-AS1 | c.78598G>A (p.Ala26200Thr) c.59683G>A (p.Ala19895Thr) c.59482G>A (p.Ala19828Thr) c.59107G>A (p.Ala19703Thr) c.86302G>A (p.Ala28768Thr) c.81379G>A (p.Ala27127Thr) n.447-11470C>T n.2043+17469C>T c.85399G>A (p.Ala28467Thr) c.59293G>A (p.Ala19765Thr) c.59152G>A (p.Ala19718Thr) c.85195G>A (p.Ala28399Thr) c.80593G>A (p.Ala26865Thr) c.80590G>A (p.Ala26864Thr) c.77632G>A (p.Ala25878Thr) c.59248G>A (p.Ala19750Thr) c.80743G>A (p.Ala26915Thr) c.80740G>A (p.Ala26914Thr) c.80173G>A (p.Ala26725Thr) c.77515G>A (p.Ala25839Thr) c.77434G>A (p.Ala25812Thr) c.59197G>A (p.Ala19733Thr) c.49051G>A (p.Ala16351Thr) | dbSNP gnomAD v4 |
| 2 | g.178559830_178559842del | CA2499215336 | TTN,TTN-AS1 | c.78586_78598del (p.Ile26197ValfsTer6) c.59671_59683del (p.Ile19892ValfsTer6) c.59470_59482del (p.Ile19825ValfsTer6) c.59095_59107del (p.Ile19700ValfsTer6) c.86290_86302del (p.Ile28765ValfsTer6) c.81367_81379del (p.Ile27124ValfsTer6) n.447-11470_447-11458del n.2043+17469_2043+17481del c.85387_85399del (p.Ile28464ValfsTer6) c.59281_59293del (p.Ile19762ValfsTer6) c.59140_59152del (p.Ile19715ValfsTer6) c.85183_85195del (p.Ile28396ValfsTer6) c.80581_80593del (p.Ile26862ValfsTer6) c.80578_80590del (p.Ile26861ValfsTer6) c.77620_77632del (p.Ile25875ValfsTer6) c.59236_59248del (p.Ile19747ValfsTer6) c.80731_80743del (p.Ile26912ValfsTer6) c.80728_80740del (p.Ile26911ValfsTer6) c.80161_80173del (p.Ile26722ValfsTer6) c.77503_77515del (p.Ile25836ValfsTer6) c.77422_77434del (p.Ile25809ValfsTer6) c.59185_59197del (p.Ile19730ValfsTer6) c.49039_49051del (p.Ile16348ValfsTer6) | ClinVar dbSNP |
| 2 | g.178559831C>A | CA349544840 | TTN,TTN-AS1 | c.78597G>T (p.Lys26199Asn) c.59682G>T (p.Lys19894Asn) c.59481G>T (p.Lys19827Asn) c.59106G>T (p.Lys19702Asn) c.86301G>T (p.Lys28767Asn) c.81378G>T (p.Lys27126Asn) n.447-11469C>A n.2043+17470C>A c.85398G>T (p.Lys28466Asn) c.59292G>T (p.Lys19764Asn) c.59151G>T (p.Lys19717Asn) c.85194G>T (p.Lys28398Asn) c.80592G>T (p.Lys26864Asn) c.80589G>T (p.Lys26863Asn) c.77631G>T (p.Lys25877Asn) c.59247G>T (p.Lys19749Asn) c.80742G>T (p.Lys26914Asn) c.80739G>T (p.Lys26913Asn) c.80172G>T (p.Lys26724Asn) c.77514G>T (p.Lys25838Asn) c.77433G>T (p.Lys25811Asn) c.59196G>T (p.Lys19732Asn) c.49050G>T (p.Lys16350Asn) | |
| 2 | g.178559831C= | CA1310526803 | TTN,TTN-AS1 | c.78597G= (p.Lys26199=) c.59682G= (p.Lys19894=) c.59481G= (p.Lys19827=) c.59106G= (p.Lys19702=) c.86301G= (p.Lys28767=) c.81378G= (p.Lys27126=) n.447-11469C= n.2043+17470C= c.85398G= (p.Lys28466=) c.59292G= (p.Lys19764=) c.59151G= (p.Lys19717=) c.85194G= (p.Lys28398=) c.80592G= (p.Lys26864=) c.80589G= (p.Lys26863=) c.77631G= (p.Lys25877=) c.59247G= (p.Lys19749=) c.80742G= (p.Lys26914=) c.80739G= (p.Lys26913=) c.80172G= (p.Lys26724=) c.77514G= (p.Lys25838=) c.77433G= (p.Lys25811=) c.59196G= (p.Lys19732=) c.49050G= (p.Lys16350=) | |
| 2 | g.178559831C>G | CA349544842 | TTN,TTN-AS1 | c.78597G>C (p.Lys26199Asn) c.59682G>C (p.Lys19894Asn) c.59481G>C (p.Lys19827Asn) c.59106G>C (p.Lys19702Asn) c.86301G>C (p.Lys28767Asn) c.81378G>C (p.Lys27126Asn) n.447-11469C>G n.2043+17470C>G c.85398G>C (p.Lys28466Asn) c.59292G>C (p.Lys19764Asn) c.59151G>C (p.Lys19717Asn) c.85194G>C (p.Lys28398Asn) c.80592G>C (p.Lys26864Asn) c.80589G>C (p.Lys26863Asn) c.77631G>C (p.Lys25877Asn) c.59247G>C (p.Lys19749Asn) c.80742G>C (p.Lys26914Asn) c.80739G>C (p.Lys26913Asn) c.80172G>C (p.Lys26724Asn) c.77514G>C (p.Lys25838Asn) c.77433G>C (p.Lys25811Asn) c.59196G>C (p.Lys19732Asn) c.49050G>C (p.Lys16350Asn) | |
| 2 | g.178559831C>T | CA283965 | TTN,TTN-AS1 | c.78597G>A (p.Lys26199=) c.59682G>A (p.Lys19894=) c.59481G>A (p.Lys19827=) c.59106G>A (p.Lys19702=) c.86301G>A (p.Lys28767=) c.81378G>A (p.Lys27126=) n.447-11469C>T n.2043+17470C>T c.85398G>A (p.Lys28466=) c.59292G>A (p.Lys19764=) c.59151G>A (p.Lys19717=) c.85194G>A (p.Lys28398=) c.80592G>A (p.Lys26864=) c.80589G>A (p.Lys26863=) c.77631G>A (p.Lys25877=) c.59247G>A (p.Lys19749=) c.80742G>A (p.Lys26914=) c.80739G>A (p.Lys26913=) c.80172G>A (p.Lys26724=) c.77514G>A (p.Lys25838=) c.77433G>A (p.Lys25811=) c.59196G>A (p.Lys19732=) c.49050G>A (p.Lys16350=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178559832T>A | CA349544850 | TTN,TTN-AS1 | c.78596A>T (p.Lys26199Met) c.59681A>T (p.Lys19894Met) c.59480A>T (p.Lys19827Met) c.59105A>T (p.Lys19702Met) c.86300A>T (p.Lys28767Met) c.81377A>T (p.Lys27126Met) n.447-11468T>A n.2043+17471T>A c.85397A>T (p.Lys28466Met) c.59291A>T (p.Lys19764Met) c.59150A>T (p.Lys19717Met) c.85193A>T (p.Lys28398Met) c.80591A>T (p.Lys26864Met) c.80588A>T (p.Lys26863Met) c.77630A>T (p.Lys25877Met) c.59246A>T (p.Lys19749Met) c.80741A>T (p.Lys26914Met) c.80738A>T (p.Lys26913Met) c.80171A>T (p.Lys26724Met) c.77513A>T (p.Lys25838Met) c.77432A>T (p.Lys25811Met) c.59195A>T (p.Lys19732Met) c.49049A>T (p.Lys16350Met) | |
| 2 | g.178559832T>C | CA349544852 | TTN,TTN-AS1 | c.78596A>G (p.Lys26199Arg) c.59681A>G (p.Lys19894Arg) c.59480A>G (p.Lys19827Arg) c.59105A>G (p.Lys19702Arg) c.86300A>G (p.Lys28767Arg) c.81377A>G (p.Lys27126Arg) n.447-11468T>C n.2043+17471T>C c.85397A>G (p.Lys28466Arg) c.59291A>G (p.Lys19764Arg) c.59150A>G (p.Lys19717Arg) c.85193A>G (p.Lys28398Arg) c.80591A>G (p.Lys26864Arg) c.80588A>G (p.Lys26863Arg) c.77630A>G (p.Lys25877Arg) c.59246A>G (p.Lys19749Arg) c.80741A>G (p.Lys26914Arg) c.80738A>G (p.Lys26913Arg) c.80171A>G (p.Lys26724Arg) c.77513A>G (p.Lys25838Arg) c.77432A>G (p.Lys25811Arg) c.59195A>G (p.Lys19732Arg) c.49049A>G (p.Lys16350Arg) | |
| 2 | g.178559832T>G | CA349544847 | TTN,TTN-AS1 | c.78596A>C (p.Lys26199Thr) c.59681A>C (p.Lys19894Thr) c.59480A>C (p.Lys19827Thr) c.59105A>C (p.Lys19702Thr) c.86300A>C (p.Lys28767Thr) c.81377A>C (p.Lys27126Thr) n.447-11468T>G n.2043+17471T>G c.85397A>C (p.Lys28466Thr) c.59291A>C (p.Lys19764Thr) c.59150A>C (p.Lys19717Thr) c.85193A>C (p.Lys28398Thr) c.80591A>C (p.Lys26864Thr) c.80588A>C (p.Lys26863Thr) c.77630A>C (p.Lys25877Thr) c.59246A>C (p.Lys19749Thr) c.80741A>C (p.Lys26914Thr) c.80738A>C (p.Lys26913Thr) c.80171A>C (p.Lys26724Thr) c.77513A>C (p.Lys25838Thr) c.77432A>C (p.Lys25811Thr) c.59195A>C (p.Lys19732Thr) c.49049A>C (p.Lys16350Thr) | |
| 2 | g.178559833T>A | CA349544858 | TTN,TTN-AS1 | c.78595A>T (p.Lys26199Ter) c.59680A>T (p.Lys19894Ter) c.59479A>T (p.Lys19827Ter) c.59104A>T (p.Lys19702Ter) c.86299A>T (p.Lys28767Ter) c.81376A>T (p.Lys27126Ter) n.447-11467T>A n.2043+17472T>A c.85396A>T (p.Lys28466Ter) c.59290A>T (p.Lys19764Ter) c.59149A>T (p.Lys19717Ter) c.85192A>T (p.Lys28398Ter) c.80590A>T (p.Lys26864Ter) c.80587A>T (p.Lys26863Ter) c.77629A>T (p.Lys25877Ter) c.59245A>T (p.Lys19749Ter) c.80740A>T (p.Lys26914Ter) c.80737A>T (p.Lys26913Ter) c.80170A>T (p.Lys26724Ter) c.77512A>T (p.Lys25838Ter) c.77431A>T (p.Lys25811Ter) c.59194A>T (p.Lys19732Ter) c.49048A>T (p.Lys16350Ter) | |
| 2 | g.178559833T>C | CA349544865 | TTN,TTN-AS1 | c.78595A>G (p.Lys26199Glu) c.59680A>G (p.Lys19894Glu) c.59479A>G (p.Lys19827Glu) c.59104A>G (p.Lys19702Glu) c.86299A>G (p.Lys28767Glu) c.81376A>G (p.Lys27126Glu) n.447-11467T>C n.2043+17472T>C c.85396A>G (p.Lys28466Glu) c.59290A>G (p.Lys19764Glu) c.59149A>G (p.Lys19717Glu) c.85192A>G (p.Lys28398Glu) c.80590A>G (p.Lys26864Glu) c.80587A>G (p.Lys26863Glu) c.77629A>G (p.Lys25877Glu) c.59245A>G (p.Lys19749Glu) c.80740A>G (p.Lys26914Glu) c.80737A>G (p.Lys26913Glu) c.80170A>G (p.Lys26724Glu) c.77512A>G (p.Lys25838Glu) c.77431A>G (p.Lys25811Glu) c.59194A>G (p.Lys19732Glu) c.49048A>G (p.Lys16350Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178559833T>G | CA349544860 | TTN,TTN-AS1 | c.78595A>C (p.Lys26199Gln) c.59680A>C (p.Lys19894Gln) c.59479A>C (p.Lys19827Gln) c.59104A>C (p.Lys19702Gln) c.86299A>C (p.Lys28767Gln) c.81376A>C (p.Lys27126Gln) n.447-11467T>G n.2043+17472T>G c.85396A>C (p.Lys28466Gln) c.59290A>C (p.Lys19764Gln) c.59149A>C (p.Lys19717Gln) c.85192A>C (p.Lys28398Gln) c.80590A>C (p.Lys26864Gln) c.80587A>C (p.Lys26863Gln) c.77629A>C (p.Lys25877Gln) c.59245A>C (p.Lys19749Gln) c.80740A>C (p.Lys26914Gln) c.80737A>C (p.Lys26913Gln) c.80170A>C (p.Lys26724Gln) c.77512A>C (p.Lys25838Gln) c.77431A>C (p.Lys25811Gln) c.59194A>C (p.Lys19732Gln) c.49048A>C (p.Lys16350Gln) | |
| 2 | g.178559833T= | CA1310526804 | TTN,TTN-AS1 | c.78595A= (p.Lys26199=) c.59680A= (p.Lys19894=) c.59479A= (p.Lys19827=) c.59104A= (p.Lys19702=) c.86299A= (p.Lys28767=) c.81376A= (p.Lys27126=) n.447-11467T= n.2043+17472T= c.85396A= (p.Lys28466=) c.59290A= (p.Lys19764=) c.59149A= (p.Lys19717=) c.85192A= (p.Lys28398=) c.80590A= (p.Lys26864=) c.80587A= (p.Lys26863=) c.77629A= (p.Lys25877=) c.59245A= (p.Lys19749=) c.80740A= (p.Lys26914=) c.80737A= (p.Lys26913=) c.80170A= (p.Lys26724=) c.77512A= (p.Lys25838=) c.77431A= (p.Lys25811=) c.59194A= (p.Lys19732=) c.49048A= (p.Lys16350=) | |
| 2 | g.178559833_178559842del | CA2499215337 | TTN,TTN-AS1 | c.78586_78595del (p.Leu26196ArgfsTer8) c.59671_59680del (p.Leu19891ArgfsTer8) c.59470_59479del (p.Leu19824ArgfsTer8) c.59095_59104del (p.Leu19699ArgfsTer8) c.86290_86299del (p.Leu28764ArgfsTer8) c.81367_81376del (p.Leu27123ArgfsTer8) n.447-11467_447-11458del n.2043+17472_2043+17481del c.85387_85396del (p.Leu28463ArgfsTer8) c.59281_59290del (p.Leu19761ArgfsTer8) c.59140_59149del (p.Leu19714ArgfsTer8) c.85183_85192del (p.Leu28395ArgfsTer8) c.80581_80590del (p.Leu26861ArgfsTer8) c.80578_80587del (p.Leu26860ArgfsTer8) c.77620_77629del (p.Leu25874ArgfsTer8) c.59236_59245del (p.Leu19746ArgfsTer8) c.80731_80740del (p.Leu26911ArgfsTer8) c.80728_80737del (p.Leu26910ArgfsTer8) c.80161_80170del (p.Leu26721ArgfsTer8) c.77503_77512del (p.Leu25835ArgfsTer8) c.77422_77431del (p.Leu25808ArgfsTer8) c.59185_59194del (p.Leu19729ArgfsTer8) c.49039_49048del (p.Leu16347ArgfsTer8) | ClinVar dbSNP |
| 2 | g.178559834G>A | CA430248215 | TTN,TTN-AS1 | c.78594C>T (p.Val26198=) c.59679C>T (p.Val19893=) c.59478C>T (p.Val19826=) c.59103C>T (p.Val19701=) c.86298C>T (p.Val28766=) c.81375C>T (p.Val27125=) n.447-11466G>A n.2043+17473G>A c.85395C>T (p.Val28465=) c.59289C>T (p.Val19763=) c.59148C>T (p.Val19716=) c.85191C>T (p.Val28397=) c.80589C>T (p.Val26863=) c.80586C>T (p.Val26862=) c.77628C>T (p.Val25876=) c.59244C>T (p.Val19748=) c.80739C>T (p.Val26913=) c.80736C>T (p.Val26912=) c.80169C>T (p.Val26723=) c.77511C>T (p.Val25837=) c.77430C>T (p.Val25810=) c.59193C>T (p.Val19731=) c.49047C>T (p.Val16349=) | |
| 2 | g.178559834G>C | CA430248216 | TTN,TTN-AS1 | c.78594C>G (p.Val26198=) c.59679C>G (p.Val19893=) c.59478C>G (p.Val19826=) c.59103C>G (p.Val19701=) c.86298C>G (p.Val28766=) c.81375C>G (p.Val27125=) n.447-11466G>C n.2043+17473G>C c.85395C>G (p.Val28465=) c.59289C>G (p.Val19763=) c.59148C>G (p.Val19716=) c.85191C>G (p.Val28397=) c.80589C>G (p.Val26863=) c.80586C>G (p.Val26862=) c.77628C>G (p.Val25876=) c.59244C>G (p.Val19748=) c.80739C>G (p.Val26913=) c.80736C>G (p.Val26912=) c.80169C>G (p.Val26723=) c.77511C>G (p.Val25837=) c.77430C>G (p.Val25810=) c.59193C>G (p.Val19731=) c.49047C>G (p.Val16349=) | gnomAD v4 |
| 2 | g.178559834G>T | CA430248217 | TTN,TTN-AS1 | c.78594C>A (p.Val26198=) c.59679C>A (p.Val19893=) c.59478C>A (p.Val19826=) c.59103C>A (p.Val19701=) c.86298C>A (p.Val28766=) c.81375C>A (p.Val27125=) n.447-11466G>T n.2043+17473G>T c.85395C>A (p.Val28465=) c.59289C>A (p.Val19763=) c.59148C>A (p.Val19716=) c.85191C>A (p.Val28397=) c.80589C>A (p.Val26863=) c.80586C>A (p.Val26862=) c.77628C>A (p.Val25876=) c.59244C>A (p.Val19748=) c.80739C>A (p.Val26913=) c.80736C>A (p.Val26912=) c.80169C>A (p.Val26723=) c.77511C>A (p.Val25837=) c.77430C>A (p.Val25810=) c.59193C>A (p.Val19731=) c.49047C>A (p.Val16349=) | gnomAD v4 |
| 2 | g.178559835A= | CA1310526805 | TTN,TTN-AS1 | c.78593T= (p.Val26198=) c.59678T= (p.Val19893=) c.59477T= (p.Val19826=) c.59102T= (p.Val19701=) c.86297T= (p.Val28766=) c.81374T= (p.Val27125=) n.447-11465A= n.2043+17474A= c.85394T= (p.Val28465=) c.59288T= (p.Val19763=) c.59147T= (p.Val19716=) c.85190T= (p.Val28397=) c.80588T= (p.Val26863=) c.80585T= (p.Val26862=) c.77627T= (p.Val25876=) c.59243T= (p.Val19748=) c.80738T= (p.Val26913=) c.80735T= (p.Val26912=) c.80168T= (p.Val26723=) c.77510T= (p.Val25837=) c.77429T= (p.Val25810=) c.59192T= (p.Val19731=) c.49046T= (p.Val16349=) | |
| 2 | g.178559835A>C | CA349544869 | TTN,TTN-AS1 | c.78593T>G (p.Val26198Gly) c.59678T>G (p.Val19893Gly) c.59477T>G (p.Val19826Gly) c.59102T>G (p.Val19701Gly) c.86297T>G (p.Val28766Gly) c.81374T>G (p.Val27125Gly) n.447-11465A>C n.2043+17474A>C c.85394T>G (p.Val28465Gly) c.59288T>G (p.Val19763Gly) c.59147T>G (p.Val19716Gly) c.85190T>G (p.Val28397Gly) c.80588T>G (p.Val26863Gly) c.80585T>G (p.Val26862Gly) c.77627T>G (p.Val25876Gly) c.59243T>G (p.Val19748Gly) c.80738T>G (p.Val26913Gly) c.80735T>G (p.Val26912Gly) c.80168T>G (p.Val26723Gly) c.77510T>G (p.Val25837Gly) c.77429T>G (p.Val25810Gly) c.59192T>G (p.Val19731Gly) c.49046T>G (p.Val16349Gly) | gnomAD v4 |
| 2 | g.178559835A>G | CA1988527 | TTN,TTN-AS1 | c.78593T>C (p.Val26198Ala) c.59678T>C (p.Val19893Ala) c.59477T>C (p.Val19826Ala) c.59102T>C (p.Val19701Ala) c.86297T>C (p.Val28766Ala) c.81374T>C (p.Val27125Ala) n.447-11465A>G n.2043+17474A>G c.85394T>C (p.Val28465Ala) c.59288T>C (p.Val19763Ala) c.59147T>C (p.Val19716Ala) c.85190T>C (p.Val28397Ala) c.80588T>C (p.Val26863Ala) c.80585T>C (p.Val26862Ala) c.77627T>C (p.Val25876Ala) c.59243T>C (p.Val19748Ala) c.80738T>C (p.Val26913Ala) c.80735T>C (p.Val26912Ala) c.80168T>C (p.Val26723Ala) c.77510T>C (p.Val25837Ala) c.77429T>C (p.Val25810Ala) c.59192T>C (p.Val19731Ala) c.49046T>C (p.Val16349Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178559835A>T | CA349544882 | TTN,TTN-AS1 | c.78593T>A (p.Val26198Asp) c.59678T>A (p.Val19893Asp) c.59477T>A (p.Val19826Asp) c.59102T>A (p.Val19701Asp) c.86297T>A (p.Val28766Asp) c.81374T>A (p.Val27125Asp) n.447-11465A>T n.2043+17474A>T c.85394T>A (p.Val28465Asp) c.59288T>A (p.Val19763Asp) c.59147T>A (p.Val19716Asp) c.85190T>A (p.Val28397Asp) c.80588T>A (p.Val26863Asp) c.80585T>A (p.Val26862Asp) c.77627T>A (p.Val25876Asp) c.59243T>A (p.Val19748Asp) c.80738T>A (p.Val26913Asp) c.80735T>A (p.Val26912Asp) c.80168T>A (p.Val26723Asp) c.77510T>A (p.Val25837Asp) c.77429T>A (p.Val25810Asp) c.59192T>A (p.Val19731Asp) c.49046T>A (p.Val16349Asp) | |
| 2 | g.178559836C>A | CA349544885 | TTN,TTN-AS1 | c.78592G>T (p.Val26198Phe) c.59677G>T (p.Val19893Phe) c.59476G>T (p.Val19826Phe) c.59101G>T (p.Val19701Phe) c.86296G>T (p.Val28766Phe) c.81373G>T (p.Val27125Phe) n.447-11464C>A n.2043+17475C>A c.85393G>T (p.Val28465Phe) c.59287G>T (p.Val19763Phe) c.59146G>T (p.Val19716Phe) c.85189G>T (p.Val28397Phe) c.80587G>T (p.Val26863Phe) c.80584G>T (p.Val26862Phe) c.77626G>T (p.Val25876Phe) c.59242G>T (p.Val19748Phe) c.80737G>T (p.Val26913Phe) c.80734G>T (p.Val26912Phe) c.80167G>T (p.Val26723Phe) c.77509G>T (p.Val25837Phe) c.77428G>T (p.Val25810Phe) c.59191G>T (p.Val19731Phe) c.49045G>T (p.Val16349Phe) | |
| 2 | g.178559836C= | CA1310526806 | TTN,TTN-AS1 | c.78592G= (p.Val26198=) c.59677G= (p.Val19893=) c.59476G= (p.Val19826=) c.59101G= (p.Val19701=) c.86296G= (p.Val28766=) c.81373G= (p.Val27125=) n.447-11464C= n.2043+17475C= c.85393G= (p.Val28465=) c.59287G= (p.Val19763=) c.59146G= (p.Val19716=) c.85189G= (p.Val28397=) c.80587G= (p.Val26863=) c.80584G= (p.Val26862=) c.77626G= (p.Val25876=) c.59242G= (p.Val19748=) c.80737G= (p.Val26913=) c.80734G= (p.Val26912=) c.80167G= (p.Val26723=) c.77509G= (p.Val25837=) c.77428G= (p.Val25810=) c.59191G= (p.Val19731=) c.49045G= (p.Val16349=) | |
| 2 | g.178559836C>G | CA349544887 | TTN,TTN-AS1 | c.78592G>C (p.Val26198Leu) c.59677G>C (p.Val19893Leu) c.59476G>C (p.Val19826Leu) c.59101G>C (p.Val19701Leu) c.86296G>C (p.Val28766Leu) c.81373G>C (p.Val27125Leu) n.447-11464C>G n.2043+17475C>G c.85393G>C (p.Val28465Leu) c.59287G>C (p.Val19763Leu) c.59146G>C (p.Val19716Leu) c.85189G>C (p.Val28397Leu) c.80587G>C (p.Val26863Leu) c.80584G>C (p.Val26862Leu) c.77626G>C (p.Val25876Leu) c.59242G>C (p.Val19748Leu) c.80737G>C (p.Val26913Leu) c.80734G>C (p.Val26912Leu) c.80167G>C (p.Val26723Leu) c.77509G>C (p.Val25837Leu) c.77428G>C (p.Val25810Leu) c.59191G>C (p.Val19731Leu) c.49045G>C (p.Val16349Leu) | ClinVar dbSNP |
| 2 | g.178559836C>T | CA349544888 | TTN,TTN-AS1 | c.78592G>A (p.Val26198Ile) c.59677G>A (p.Val19893Ile) c.59476G>A (p.Val19826Ile) c.59101G>A (p.Val19701Ile) c.86296G>A (p.Val28766Ile) c.81373G>A (p.Val27125Ile) n.447-11464C>T n.2043+17475C>T c.85393G>A (p.Val28465Ile) c.59287G>A (p.Val19763Ile) c.59146G>A (p.Val19716Ile) c.85189G>A (p.Val28397Ile) c.80587G>A (p.Val26863Ile) c.80584G>A (p.Val26862Ile) c.77626G>A (p.Val25876Ile) c.59242G>A (p.Val19748Ile) c.80737G>A (p.Val26913Ile) c.80734G>A (p.Val26912Ile) c.80167G>A (p.Val26723Ile) c.77509G>A (p.Val25837Ile) c.77428G>A (p.Val25810Ile) c.59191G>A (p.Val19731Ile) c.49045G>A (p.Val16349Ile) | dbSNP |
| 2 | g.178559837A>C | CA349544889 | TTN,TTN-AS1 | c.78591T>G (p.Ile26197Met) c.59676T>G (p.Ile19892Met) c.59475T>G (p.Ile19825Met) c.59100T>G (p.Ile19700Met) c.86295T>G (p.Ile28765Met) c.81372T>G (p.Ile27124Met) n.447-11463A>C n.2043+17476A>C c.85392T>G (p.Ile28464Met) c.59286T>G (p.Ile19762Met) c.59145T>G (p.Ile19715Met) c.85188T>G (p.Ile28396Met) c.80586T>G (p.Ile26862Met) c.80583T>G (p.Ile26861Met) c.77625T>G (p.Ile25875Met) c.59241T>G (p.Ile19747Met) c.80736T>G (p.Ile26912Met) c.80733T>G (p.Ile26911Met) c.80166T>G (p.Ile26722Met) c.77508T>G (p.Ile25836Met) c.77427T>G (p.Ile25809Met) c.59190T>G (p.Ile19730Met) c.49044T>G (p.Ile16348Met) | |
| 2 | g.178559837A>G | CA430248218 | TTN,TTN-AS1 | c.78591T>C (p.Ile26197=) c.59676T>C (p.Ile19892=) c.59475T>C (p.Ile19825=) c.59100T>C (p.Ile19700=) c.86295T>C (p.Ile28765=) c.81372T>C (p.Ile27124=) n.447-11463A>G n.2043+17476A>G c.85392T>C (p.Ile28464=) c.59286T>C (p.Ile19762=) c.59145T>C (p.Ile19715=) c.85188T>C (p.Ile28396=) c.80586T>C (p.Ile26862=) c.80583T>C (p.Ile26861=) c.77625T>C (p.Ile25875=) c.59241T>C (p.Ile19747=) c.80736T>C (p.Ile26912=) c.80733T>C (p.Ile26911=) c.80166T>C (p.Ile26722=) c.77508T>C (p.Ile25836=) c.77427T>C (p.Ile25809=) c.59190T>C (p.Ile19730=) c.49044T>C (p.Ile16348=) | ClinVar |
| 2 | g.178559837A>T | CA430248219 | TTN,TTN-AS1 | c.78591T>A (p.Ile26197=) c.59676T>A (p.Ile19892=) c.59475T>A (p.Ile19825=) c.59100T>A (p.Ile19700=) c.86295T>A (p.Ile28765=) c.81372T>A (p.Ile27124=) n.447-11463A>T n.2043+17476A>T c.85392T>A (p.Ile28464=) c.59286T>A (p.Ile19762=) c.59145T>A (p.Ile19715=) c.85188T>A (p.Ile28396=) c.80586T>A (p.Ile26862=) c.80583T>A (p.Ile26861=) c.77625T>A (p.Ile25875=) c.59241T>A (p.Ile19747=) c.80736T>A (p.Ile26912=) c.80733T>A (p.Ile26911=) c.80166T>A (p.Ile26722=) c.77508T>A (p.Ile25836=) c.77427T>A (p.Ile25809=) c.59190T>A (p.Ile19730=) c.49044T>A (p.Ile16348=) | |
| 2 | g.178559838A= | CA1310526807 | TTN,TTN-AS1 | c.78590T= (p.Ile26197=) c.59675T= (p.Ile19892=) c.59474T= (p.Ile19825=) c.59099T= (p.Ile19700=) c.86294T= (p.Ile28765=) c.81371T= (p.Ile27124=) n.447-11462A= n.2043+17477A= c.85391T= (p.Ile28464=) c.59285T= (p.Ile19762=) c.59144T= (p.Ile19715=) c.85187T= (p.Ile28396=) c.80585T= (p.Ile26862=) c.80582T= (p.Ile26861=) c.77624T= (p.Ile25875=) c.59240T= (p.Ile19747=) c.80735T= (p.Ile26912=) c.80732T= (p.Ile26911=) c.80165T= (p.Ile26722=) c.77507T= (p.Ile25836=) c.77426T= (p.Ile25809=) c.59189T= (p.Ile19730=) c.49043T= (p.Ile16348=) | |
| 2 | g.178559838A>C | CA349544891 | TTN,TTN-AS1 | c.78590T>G (p.Ile26197Ser) c.59675T>G (p.Ile19892Ser) c.59474T>G (p.Ile19825Ser) c.59099T>G (p.Ile19700Ser) c.86294T>G (p.Ile28765Ser) c.81371T>G (p.Ile27124Ser) n.447-11462A>C n.2043+17477A>C c.85391T>G (p.Ile28464Ser) c.59285T>G (p.Ile19762Ser) c.59144T>G (p.Ile19715Ser) c.85187T>G (p.Ile28396Ser) c.80585T>G (p.Ile26862Ser) c.80582T>G (p.Ile26861Ser) c.77624T>G (p.Ile25875Ser) c.59240T>G (p.Ile19747Ser) c.80735T>G (p.Ile26912Ser) c.80732T>G (p.Ile26911Ser) c.80165T>G (p.Ile26722Ser) c.77507T>G (p.Ile25836Ser) c.77426T>G (p.Ile25809Ser) c.59189T>G (p.Ile19730Ser) c.49043T>G (p.Ile16348Ser) | |
| 2 | g.178559838A>G | CA349544893 | TTN,TTN-AS1 | c.78590T>C (p.Ile26197Thr) c.59675T>C (p.Ile19892Thr) c.59474T>C (p.Ile19825Thr) c.59099T>C (p.Ile19700Thr) c.86294T>C (p.Ile28765Thr) c.81371T>C (p.Ile27124Thr) n.447-11462A>G n.2043+17477A>G c.85391T>C (p.Ile28464Thr) c.59285T>C (p.Ile19762Thr) c.59144T>C (p.Ile19715Thr) c.85187T>C (p.Ile28396Thr) c.80585T>C (p.Ile26862Thr) c.80582T>C (p.Ile26861Thr) c.77624T>C (p.Ile25875Thr) c.59240T>C (p.Ile19747Thr) c.80735T>C (p.Ile26912Thr) c.80732T>C (p.Ile26911Thr) c.80165T>C (p.Ile26722Thr) c.77507T>C (p.Ile25836Thr) c.77426T>C (p.Ile25809Thr) c.59189T>C (p.Ile19730Thr) c.49043T>C (p.Ile16348Thr) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178559838A>T | CA349544898 | TTN,TTN-AS1 | c.78590T>A (p.Ile26197Asn) c.59675T>A (p.Ile19892Asn) c.59474T>A (p.Ile19825Asn) c.59099T>A (p.Ile19700Asn) c.86294T>A (p.Ile28765Asn) c.81371T>A (p.Ile27124Asn) n.447-11462A>T n.2043+17477A>T c.85391T>A (p.Ile28464Asn) c.59285T>A (p.Ile19762Asn) c.59144T>A (p.Ile19715Asn) c.85187T>A (p.Ile28396Asn) c.80585T>A (p.Ile26862Asn) c.80582T>A (p.Ile26861Asn) c.77624T>A (p.Ile25875Asn) c.59240T>A (p.Ile19747Asn) c.80735T>A (p.Ile26912Asn) c.80732T>A (p.Ile26911Asn) c.80165T>A (p.Ile26722Asn) c.77507T>A (p.Ile25836Asn) c.77426T>A (p.Ile25809Asn) c.59189T>A (p.Ile19730Asn) c.49043T>A (p.Ile16348Asn) | |
| 2 | g.178559839T>A | CA349544901 | TTN,TTN-AS1 | c.78589A>T (p.Ile26197Phe) c.59674A>T (p.Ile19892Phe) c.59473A>T (p.Ile19825Phe) c.59098A>T (p.Ile19700Phe) c.86293A>T (p.Ile28765Phe) c.81370A>T (p.Ile27124Phe) n.447-11461T>A n.2043+17478T>A c.85390A>T (p.Ile28464Phe) c.59284A>T (p.Ile19762Phe) c.59143A>T (p.Ile19715Phe) c.85186A>T (p.Ile28396Phe) c.80584A>T (p.Ile26862Phe) c.80581A>T (p.Ile26861Phe) c.77623A>T (p.Ile25875Phe) c.59239A>T (p.Ile19747Phe) c.80734A>T (p.Ile26912Phe) c.80731A>T (p.Ile26911Phe) c.80164A>T (p.Ile26722Phe) c.77506A>T (p.Ile25836Phe) c.77425A>T (p.Ile25809Phe) c.59188A>T (p.Ile19730Phe) c.49042A>T (p.Ile16348Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178559839T>C | CA349544902 | TTN,TTN-AS1 | c.78589A>G (p.Ile26197Val) c.59674A>G (p.Ile19892Val) c.59473A>G (p.Ile19825Val) c.59098A>G (p.Ile19700Val) c.86293A>G (p.Ile28765Val) c.81370A>G (p.Ile27124Val) n.447-11461T>C n.2043+17478T>C c.85390A>G (p.Ile28464Val) c.59284A>G (p.Ile19762Val) c.59143A>G (p.Ile19715Val) c.85186A>G (p.Ile28396Val) c.80584A>G (p.Ile26862Val) c.80581A>G (p.Ile26861Val) c.77623A>G (p.Ile25875Val) c.59239A>G (p.Ile19747Val) c.80734A>G (p.Ile26912Val) c.80731A>G (p.Ile26911Val) c.80164A>G (p.Ile26722Val) c.77506A>G (p.Ile25836Val) c.77425A>G (p.Ile25809Val) c.59188A>G (p.Ile19730Val) c.49042A>G (p.Ile16348Val) | |
| 2 | g.178559839T>G | CA349544903 | TTN,TTN-AS1 | c.78589A>C (p.Ile26197Leu) c.59674A>C (p.Ile19892Leu) c.59473A>C (p.Ile19825Leu) c.59098A>C (p.Ile19700Leu) c.86293A>C (p.Ile28765Leu) c.81370A>C (p.Ile27124Leu) n.447-11461T>G n.2043+17478T>G c.85390A>C (p.Ile28464Leu) c.59284A>C (p.Ile19762Leu) c.59143A>C (p.Ile19715Leu) c.85186A>C (p.Ile28396Leu) c.80584A>C (p.Ile26862Leu) c.80581A>C (p.Ile26861Leu) c.77623A>C (p.Ile25875Leu) c.59239A>C (p.Ile19747Leu) c.80734A>C (p.Ile26912Leu) c.80731A>C (p.Ile26911Leu) c.80164A>C (p.Ile26722Leu) c.77506A>C (p.Ile25836Leu) c.77425A>C (p.Ile25809Leu) c.59188A>C (p.Ile19730Leu) c.49042A>C (p.Ile16348Leu) | |
| 2 | g.178559839T= | CA1310526808 | TTN,TTN-AS1 | c.78589A= (p.Ile26197=) c.59674A= (p.Ile19892=) c.59473A= (p.Ile19825=) c.59098A= (p.Ile19700=) c.86293A= (p.Ile28765=) c.81370A= (p.Ile27124=) n.447-11461T= n.2043+17478T= c.85390A= (p.Ile28464=) c.59284A= (p.Ile19762=) c.59143A= (p.Ile19715=) c.85186A= (p.Ile28396=) c.80584A= (p.Ile26862=) c.80581A= (p.Ile26861=) c.77623A= (p.Ile25875=) c.59239A= (p.Ile19747=) c.80734A= (p.Ile26912=) c.80731A= (p.Ile26911=) c.80164A= (p.Ile26722=) c.77506A= (p.Ile25836=) c.77425A= (p.Ile25809=) c.59188A= (p.Ile19730=) c.49042A= (p.Ile16348=) | |
| 2 | g.178559841_178559846del | CA2662128507 | TTN,TTN-AS1 | c.78584_78589del (p.Thr26195_Leu26196del) c.59669_59674del (p.Thr19890_Leu19891del) c.59468_59473del (p.Thr19823_Leu19824del) c.59093_59098del (p.Thr19698_Leu19699del) c.86288_86293del (p.Thr28763_Leu28764del) c.81365_81370del (p.Thr27122_Leu27123del) n.447-11459_447-11454del n.2043+17480_2043+17485del c.85385_85390del (p.Thr28462_Leu28463del) c.59279_59284del (p.Thr19760_Leu19761del) c.59138_59143del (p.Thr19713_Leu19714del) c.85181_85186del (p.Thr28394_Leu28395del) c.80579_80584del (p.Thr26860_Leu26861del) c.80576_80581del (p.Thr26859_Leu26860del) c.77618_77623del (p.Thr25873_Leu25874del) c.59234_59239del (p.Thr19745_Leu19746del) c.80729_80734del (p.Thr26910_Leu26911del) c.80726_80731del (p.Thr26909_Leu26910del) c.80159_80164del (p.Thr26720_Leu26721del) c.77501_77506del (p.Thr25834_Leu25835del) c.77420_77425del (p.Thr25807_Leu25808del) c.59183_59188del (p.Thr19728_Leu19729del) c.49037_49042del (p.Thr16346_Leu16347del) | gnomAD v4 |
| 2 | g.178559840C>A | CA349544904 | TTN,TTN-AS1 | c.78588G>T (p.Leu26196Phe) c.59673G>T (p.Leu19891Phe) c.59472G>T (p.Leu19824Phe) c.59097G>T (p.Leu19699Phe) c.86292G>T (p.Leu28764Phe) c.81369G>T (p.Leu27123Phe) n.447-11460C>A n.2043+17479C>A c.85389G>T (p.Leu28463Phe) c.59283G>T (p.Leu19761Phe) c.59142G>T (p.Leu19714Phe) c.85185G>T (p.Leu28395Phe) c.80583G>T (p.Leu26861Phe) c.80580G>T (p.Leu26860Phe) c.77622G>T (p.Leu25874Phe) c.59238G>T (p.Leu19746Phe) c.80733G>T (p.Leu26911Phe) c.80730G>T (p.Leu26910Phe) c.80163G>T (p.Leu26721Phe) c.77505G>T (p.Leu25835Phe) c.77424G>T (p.Leu25808Phe) c.59187G>T (p.Leu19729Phe) c.49041G>T (p.Leu16347Phe) | |
| 2 | g.178559840C= | CA1310526809 | TTN,TTN-AS1 | c.78588G= (p.Leu26196=) c.59673G= (p.Leu19891=) c.59472G= (p.Leu19824=) c.59097G= (p.Leu19699=) c.86292G= (p.Leu28764=) c.81369G= (p.Leu27123=) n.447-11460C= n.2043+17479C= c.85389G= (p.Leu28463=) c.59283G= (p.Leu19761=) c.59142G= (p.Leu19714=) c.85185G= (p.Leu28395=) c.80583G= (p.Leu26861=) c.80580G= (p.Leu26860=) c.77622G= (p.Leu25874=) c.59238G= (p.Leu19746=) c.80733G= (p.Leu26911=) c.80730G= (p.Leu26910=) c.80163G= (p.Leu26721=) c.77505G= (p.Leu25835=) c.77424G= (p.Leu25808=) c.59187G= (p.Leu19729=) c.49041G= (p.Leu16347=) | |
| 2 | g.178559840C>G | CA349544905 | TTN,TTN-AS1 | c.78588G>C (p.Leu26196Phe) c.59673G>C (p.Leu19891Phe) c.59472G>C (p.Leu19824Phe) c.59097G>C (p.Leu19699Phe) c.86292G>C (p.Leu28764Phe) c.81369G>C (p.Leu27123Phe) n.447-11460C>G n.2043+17479C>G c.85389G>C (p.Leu28463Phe) c.59283G>C (p.Leu19761Phe) c.59142G>C (p.Leu19714Phe) c.85185G>C (p.Leu28395Phe) c.80583G>C (p.Leu26861Phe) c.80580G>C (p.Leu26860Phe) c.77622G>C (p.Leu25874Phe) c.59238G>C (p.Leu19746Phe) c.80733G>C (p.Leu26911Phe) c.80730G>C (p.Leu26910Phe) c.80163G>C (p.Leu26721Phe) c.77505G>C (p.Leu25835Phe) c.77424G>C (p.Leu25808Phe) c.59187G>C (p.Leu19729Phe) c.49041G>C (p.Leu16347Phe) | ClinVar dbSNP |
| 2 | g.178559840C>T | CA430248220 | TTN,TTN-AS1 | c.78588G>A (p.Leu26196=) c.59673G>A (p.Leu19891=) c.59472G>A (p.Leu19824=) c.59097G>A (p.Leu19699=) c.86292G>A (p.Leu28764=) c.81369G>A (p.Leu27123=) n.447-11460C>T n.2043+17479C>T c.85389G>A (p.Leu28463=) c.59283G>A (p.Leu19761=) c.59142G>A (p.Leu19714=) c.85185G>A (p.Leu28395=) c.80583G>A (p.Leu26861=) c.80580G>A (p.Leu26860=) c.77622G>A (p.Leu25874=) c.59238G>A (p.Leu19746=) c.80733G>A (p.Leu26911=) c.80730G>A (p.Leu26910=) c.80163G>A (p.Leu26721=) c.77505G>A (p.Leu25835=) c.77424G>A (p.Leu25808=) c.59187G>A (p.Leu19729=) c.49041G>A (p.Leu16347=) | |
| 2 | g.178559841A>C | CA349544908 | TTN,TTN-AS1 | c.78587T>G (p.Leu26196Trp) c.59672T>G (p.Leu19891Trp) c.59471T>G (p.Leu19824Trp) c.59096T>G (p.Leu19699Trp) c.86291T>G (p.Leu28764Trp) c.81368T>G (p.Leu27123Trp) n.447-11459A>C n.2043+17480A>C c.85388T>G (p.Leu28463Trp) c.59282T>G (p.Leu19761Trp) c.59141T>G (p.Leu19714Trp) c.85184T>G (p.Leu28395Trp) c.80582T>G (p.Leu26861Trp) c.80579T>G (p.Leu26860Trp) c.77621T>G (p.Leu25874Trp) c.59237T>G (p.Leu19746Trp) c.80732T>G (p.Leu26911Trp) c.80729T>G (p.Leu26910Trp) c.80162T>G (p.Leu26721Trp) c.77504T>G (p.Leu25835Trp) c.77423T>G (p.Leu25808Trp) c.59186T>G (p.Leu19729Trp) c.49040T>G (p.Leu16347Trp) |