| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178740909_178740926del | CA2662152965 | TTN | c.10361-2563_10361-2546del (n.10361-2563_10361-2546del) c.11797_11814del (p.Ser3933_Leu3938del) c.11596_11613del (p.Ser3866_Leu3871del) c.11221_11238del (p.Ser3741_Leu3746del) c.12310_12327del (p.Ser4104_Leu4109del) c.11359_11376del (p.Ser3787_Leu3792del) c.11407_11424del (p.Ser3803_Leu3808del) c.11266_11283del (p.Ser3756_Leu3761del) c.11362_11379del (p.Ser3788_Leu3793del) c.10364-2563_10364-2546del (n.10364-2563_10364-2546del) | gnomAD v4 |
| 2 | g.178740926A= | CA1310601798 | TTN | c.10361-2566T= (n.10361-2566T=) c.11794T= (p.Leu3932=) c.11593T= (p.Leu3865=) c.11218T= (p.Leu3740=) c.12307T= (p.Leu4103=) c.11356T= (p.Leu3786=) c.11404T= (p.Leu3802=) c.11263T= (p.Leu3755=) c.11359T= (p.Leu3787=) c.10364-2566T= (n.10364-2566T=) | |
| 2 | g.178740926A>C | CA349615669 | TTN | c.10361-2566T>G (n.10361-2566T>G) c.11794T>G (p.Leu3932Val) c.11593T>G (p.Leu3865Val) c.11218T>G (p.Leu3740Val) c.12307T>G (p.Leu4103Val) c.11356T>G (p.Leu3786Val) c.11404T>G (p.Leu3802Val) c.11263T>G (p.Leu3755Val) c.11359T>G (p.Leu3787Val) c.10364-2566T>G (n.10364-2566T>G) | |
| 2 | g.178740926A>G | CA291524 | TTN | c.10361-2566T>C (n.10361-2566T>C) c.11794T>C (p.Leu3932=) c.11593T>C (p.Leu3865=) c.11218T>C (p.Leu3740=) c.12307T>C (p.Leu4103=) c.11356T>C (p.Leu3786=) c.11404T>C (p.Leu3802=) c.11263T>C (p.Leu3755=) c.11359T>C (p.Leu3787=) c.10364-2566T>C (n.10364-2566T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178740926A>T | CA349615671 | TTN | c.10361-2566T>A (n.10361-2566T>A) c.11794T>A (p.Leu3932Met) c.11593T>A (p.Leu3865Met) c.11218T>A (p.Leu3740Met) c.12307T>A (p.Leu4103Met) c.11356T>A (p.Leu3786Met) c.11404T>A (p.Leu3802Met) c.11263T>A (p.Leu3755Met) c.11359T>A (p.Leu3787Met) c.10364-2566T>A (n.10364-2566T>A) | |
| 2 | g.178740927T>A | CA349615673 | TTN | c.10361-2567A>T (n.10361-2567A>T) c.11793A>T (p.Glu3931Asp) c.11592A>T (p.Glu3864Asp) c.11217A>T (p.Glu3739Asp) c.12306A>T (p.Glu4102Asp) c.11355A>T (p.Glu3785Asp) c.11403A>T (p.Glu3801Asp) c.11262A>T (p.Glu3754Asp) c.11358A>T (p.Glu3786Asp) c.10364-2567A>T (n.10364-2567A>T) | |
| 2 | g.178740927T>C | CA430296205 | TTN | c.10361-2567A>G (n.10361-2567A>G) c.11793A>G (p.Glu3931=) c.11592A>G (p.Glu3864=) c.11217A>G (p.Glu3739=) c.12306A>G (p.Glu4102=) c.11355A>G (p.Glu3785=) c.11403A>G (p.Glu3801=) c.11262A>G (p.Glu3754=) c.11358A>G (p.Glu3786=) c.10364-2567A>G (n.10364-2567A>G) | ClinVar dbSNP |
| 2 | g.178740927T>G | CA349615675 | TTN | c.10361-2567A>C (n.10361-2567A>C) c.11793A>C (p.Glu3931Asp) c.11592A>C (p.Glu3864Asp) c.11217A>C (p.Glu3739Asp) c.12306A>C (p.Glu4102Asp) c.11355A>C (p.Glu3785Asp) c.11403A>C (p.Glu3801Asp) c.11262A>C (p.Glu3754Asp) c.11358A>C (p.Glu3786Asp) c.10364-2567A>C (n.10364-2567A>C) | |
| 2 | g.178740928T>A | CA349615676 | TTN | c.10361-2568A>T (n.10361-2568A>T) c.11792A>T (p.Glu3931Val) c.11591A>T (p.Glu3864Val) c.11216A>T (p.Glu3739Val) c.12305A>T (p.Glu4102Val) c.11354A>T (p.Glu3785Val) c.11402A>T (p.Glu3801Val) c.11261A>T (p.Glu3754Val) c.11357A>T (p.Glu3786Val) c.10364-2568A>T (n.10364-2568A>T) | |
| 2 | g.178740928T>C | CA349615678 | TTN | c.10361-2568A>G (n.10361-2568A>G) c.11792A>G (p.Glu3931Gly) c.11591A>G (p.Glu3864Gly) c.11216A>G (p.Glu3739Gly) c.12305A>G (p.Glu4102Gly) c.11354A>G (p.Glu3785Gly) c.11402A>G (p.Glu3801Gly) c.11261A>G (p.Glu3754Gly) c.11357A>G (p.Glu3786Gly) c.10364-2568A>G (n.10364-2568A>G) | gnomAD v4 |
| 2 | g.178740928T>G | CA349615681 | TTN | c.10361-2568A>C (n.10361-2568A>C) c.11792A>C (p.Glu3931Ala) c.11591A>C (p.Glu3864Ala) c.11216A>C (p.Glu3739Ala) c.12305A>C (p.Glu4102Ala) c.11354A>C (p.Glu3785Ala) c.11402A>C (p.Glu3801Ala) c.11261A>C (p.Glu3754Ala) c.11357A>C (p.Glu3786Ala) c.10364-2568A>C (n.10364-2568A>C) | |
| 2 | g.178740929C>A | CA349615683 | TTN | c.10361-2569G>T (n.10361-2569G>T) c.11791G>T (p.Glu3931Ter) c.11590G>T (p.Glu3864Ter) c.11215G>T (p.Glu3739Ter) c.12304G>T (p.Glu4102Ter) c.11353G>T (p.Glu3785Ter) c.11401G>T (p.Glu3801Ter) c.11260G>T (p.Glu3754Ter) c.11356G>T (p.Glu3786Ter) c.10364-2569G>T (n.10364-2569G>T) | |
| 2 | g.178740929C= | CA1310601801 | TTN | c.10361-2569G= (n.10361-2569G=) c.11791G= (p.Glu3931=) c.11590G= (p.Glu3864=) c.11215G= (p.Glu3739=) c.12304G= (p.Glu4102=) c.11353G= (p.Glu3785=) c.11401G= (p.Glu3801=) c.11260G= (p.Glu3754=) c.11356G= (p.Glu3786=) c.10364-2569G= (n.10364-2569G=) | |
| 2 | g.178740929C>G | CA349615685 | TTN | c.10361-2569G>C (n.10361-2569G>C) c.11791G>C (p.Glu3931Gln) c.11590G>C (p.Glu3864Gln) c.11215G>C (p.Glu3739Gln) c.12304G>C (p.Glu4102Gln) c.11353G>C (p.Glu3785Gln) c.11401G>C (p.Glu3801Gln) c.11260G>C (p.Glu3754Gln) c.11356G>C (p.Glu3786Gln) c.10364-2569G>C (n.10364-2569G>C) | |
| 2 | g.178740929C>T | CA349615687 | TTN | c.10361-2569G>A (n.10361-2569G>A) c.11791G>A (p.Glu3931Lys) c.11590G>A (p.Glu3864Lys) c.11215G>A (p.Glu3739Lys) c.12304G>A (p.Glu4102Lys) c.11353G>A (p.Glu3785Lys) c.11401G>A (p.Glu3801Lys) c.11260G>A (p.Glu3754Lys) c.11356G>A (p.Glu3786Lys) c.10364-2569G>A (n.10364-2569G>A) | dbSNP |
| 2 | g.178740930A= | CA1310601802 | TTN | c.10361-2570T= (n.10361-2570T=) c.11790T= (p.Asn3930=) c.11589T= (p.Asn3863=) c.11214T= (p.Asn3738=) c.12303T= (p.Asn4101=) c.11352T= (p.Asn3784=) c.11400T= (p.Asn3800=) c.11259T= (p.Asn3753=) c.11355T= (p.Asn3785=) c.10364-2570T= (n.10364-2570T=) | |
| 2 | g.178740930A>C | CA349615689 | TTN | c.10361-2570T>G (n.10361-2570T>G) c.11790T>G (p.Asn3930Lys) c.11589T>G (p.Asn3863Lys) c.11214T>G (p.Asn3738Lys) c.12303T>G (p.Asn4101Lys) c.11352T>G (p.Asn3784Lys) c.11400T>G (p.Asn3800Lys) c.11259T>G (p.Asn3753Lys) c.11355T>G (p.Asn3785Lys) c.10364-2570T>G (n.10364-2570T>G) | |
| 2 | g.178740930A>G | CA430296209 | TTN | c.10361-2570T>C (n.10361-2570T>C) c.11790T>C (p.Asn3930=) c.11589T>C (p.Asn3863=) c.11214T>C (p.Asn3738=) c.12303T>C (p.Asn4101=) c.11352T>C (p.Asn3784=) c.11400T>C (p.Asn3800=) c.11259T>C (p.Asn3753=) c.11355T>C (p.Asn3785=) c.10364-2570T>C (n.10364-2570T>C) | gnomAD v4 |
| 2 | g.178740930A>T | CA349615691 | TTN | c.10361-2570T>A (n.10361-2570T>A) c.11790T>A (p.Asn3930Lys) c.11589T>A (p.Asn3863Lys) c.11214T>A (p.Asn3738Lys) c.12303T>A (p.Asn4101Lys) c.11352T>A (p.Asn3784Lys) c.11400T>A (p.Asn3800Lys) c.11259T>A (p.Asn3753Lys) c.11355T>A (p.Asn3785Lys) c.10364-2570T>A (n.10364-2570T>A) | dbSNP |
| 2 | g.178740931T>A | CA349615694 | TTN | c.10361-2571A>T (n.10361-2571A>T) c.11789A>T (p.Asn3930Ile) c.11588A>T (p.Asn3863Ile) c.11213A>T (p.Asn3738Ile) c.12302A>T (p.Asn4101Ile) c.11351A>T (p.Asn3784Ile) c.11399A>T (p.Asn3800Ile) c.11258A>T (p.Asn3753Ile) c.11354A>T (p.Asn3785Ile) c.10364-2571A>T (n.10364-2571A>T) | |
| 2 | g.178740931T>C | CA2002738 | TTN | c.10361-2571A>G (n.10361-2571A>G) c.11789A>G (p.Asn3930Ser) c.11588A>G (p.Asn3863Ser) c.11213A>G (p.Asn3738Ser) c.12302A>G (p.Asn4101Ser) c.11351A>G (p.Asn3784Ser) c.11399A>G (p.Asn3800Ser) c.11258A>G (p.Asn3753Ser) c.11354A>G (p.Asn3785Ser) c.10364-2571A>G (n.10364-2571A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178740931T>G | CA349615693 | TTN | c.10361-2571A>C (n.10361-2571A>C) c.11789A>C (p.Asn3930Thr) c.11588A>C (p.Asn3863Thr) c.11213A>C (p.Asn3738Thr) c.12302A>C (p.Asn4101Thr) c.11351A>C (p.Asn3784Thr) c.11399A>C (p.Asn3800Thr) c.11258A>C (p.Asn3753Thr) c.11354A>C (p.Asn3785Thr) c.10364-2571A>C (n.10364-2571A>C) | |
| 2 | g.178740931T= | CA1310601804 | TTN | c.10361-2571A= (n.10361-2571A=) c.11789A= (p.Asn3930=) c.11588A= (p.Asn3863=) c.11213A= (p.Asn3738=) c.12302A= (p.Asn4101=) c.11351A= (p.Asn3784=) c.11399A= (p.Asn3800=) c.11258A= (p.Asn3753=) c.11354A= (p.Asn3785=) c.10364-2571A= (n.10364-2571A=) | |
| 2 | g.178740932T>A | CA349615697 | TTN | c.10361-2572A>T (n.10361-2572A>T) c.11788A>T (p.Asn3930Tyr) c.11587A>T (p.Asn3863Tyr) c.11212A>T (p.Asn3738Tyr) c.12301A>T (p.Asn4101Tyr) c.11350A>T (p.Asn3784Tyr) c.11398A>T (p.Asn3800Tyr) c.11257A>T (p.Asn3753Tyr) c.11353A>T (p.Asn3785Tyr) c.10364-2572A>T (n.10364-2572A>T) | |
| 2 | g.178740932T>C | CA349615703 | TTN | c.10361-2572A>G (n.10361-2572A>G) c.11788A>G (p.Asn3930Asp) c.11587A>G (p.Asn3863Asp) c.11212A>G (p.Asn3738Asp) c.12301A>G (p.Asn4101Asp) c.11350A>G (p.Asn3784Asp) c.11398A>G (p.Asn3800Asp) c.11257A>G (p.Asn3753Asp) c.11353A>G (p.Asn3785Asp) c.10364-2572A>G (n.10364-2572A>G) | |
| 2 | g.178740932T>G | CA349615701 | TTN | c.10361-2572A>C (n.10361-2572A>C) c.11788A>C (p.Asn3930His) c.11587A>C (p.Asn3863His) c.11212A>C (p.Asn3738His) c.12301A>C (p.Asn4101His) c.11350A>C (p.Asn3784His) c.11398A>C (p.Asn3800His) c.11257A>C (p.Asn3753His) c.11353A>C (p.Asn3785His) c.10364-2572A>C (n.10364-2572A>C) | |
| 2 | g.178740933G>A | CA430296214 | TTN | c.10361-2573C>T (n.10361-2573C>T) c.11787C>T (p.Ala3929=) c.11586C>T (p.Ala3862=) c.11211C>T (p.Ala3737=) c.12300C>T (p.Ala4100=) c.11349C>T (p.Ala3783=) c.11397C>T (p.Ala3799=) c.11256C>T (p.Ala3752=) c.11352C>T (p.Ala3784=) c.10364-2573C>T (n.10364-2573C>T) | |
| 2 | g.178740933G>C | CA430296215 | TTN | c.10361-2573C>G (n.10361-2573C>G) c.11787C>G (p.Ala3929=) c.11586C>G (p.Ala3862=) c.11211C>G (p.Ala3737=) c.12300C>G (p.Ala4100=) c.11349C>G (p.Ala3783=) c.11397C>G (p.Ala3799=) c.11256C>G (p.Ala3752=) c.11352C>G (p.Ala3784=) c.10364-2573C>G (n.10364-2573C>G) | |
| 2 | g.178740933G>T | CA430296216 | TTN | c.10361-2573C>A (n.10361-2573C>A) c.11787C>A (p.Ala3929=) c.11586C>A (p.Ala3862=) c.11211C>A (p.Ala3737=) c.12300C>A (p.Ala4100=) c.11349C>A (p.Ala3783=) c.11397C>A (p.Ala3799=) c.11256C>A (p.Ala3752=) c.11352C>A (p.Ala3784=) c.10364-2573C>A (n.10364-2573C>A) | ClinVar |
| 2 | g.178740934G>A | CA349615706 | TTN | c.10361-2574C>T (n.10361-2574C>T) c.11786C>T (p.Ala3929Val) c.11585C>T (p.Ala3862Val) c.11210C>T (p.Ala3737Val) c.12299C>T (p.Ala4100Val) c.11348C>T (p.Ala3783Val) c.11396C>T (p.Ala3799Val) c.11255C>T (p.Ala3752Val) c.11351C>T (p.Ala3784Val) c.10364-2574C>T (n.10364-2574C>T) | |
| 2 | g.178740934G>C | CA349615709 | TTN | c.10361-2574C>G (n.10361-2574C>G) c.11786C>G (p.Ala3929Gly) c.11585C>G (p.Ala3862Gly) c.11210C>G (p.Ala3737Gly) c.12299C>G (p.Ala4100Gly) c.11348C>G (p.Ala3783Gly) c.11396C>G (p.Ala3799Gly) c.11255C>G (p.Ala3752Gly) c.11351C>G (p.Ala3784Gly) c.10364-2574C>G (n.10364-2574C>G) | |
| 2 | g.178740934G>T | CA349615708 | TTN | c.10361-2574C>A (n.10361-2574C>A) c.11786C>A (p.Ala3929Asp) c.11585C>A (p.Ala3862Asp) c.11210C>A (p.Ala3737Asp) c.12299C>A (p.Ala4100Asp) c.11348C>A (p.Ala3783Asp) c.11396C>A (p.Ala3799Asp) c.11255C>A (p.Ala3752Asp) c.11351C>A (p.Ala3784Asp) c.10364-2574C>A (n.10364-2574C>A) | |
| 2 | g.178740935C>A | CA349615712 | TTN | c.10361-2575G>T (n.10361-2575G>T) c.11785G>T (p.Ala3929Ser) c.11584G>T (p.Ala3862Ser) c.11209G>T (p.Ala3737Ser) c.12298G>T (p.Ala4100Ser) c.11347G>T (p.Ala3783Ser) c.11395G>T (p.Ala3799Ser) c.11254G>T (p.Ala3752Ser) c.11350G>T (p.Ala3784Ser) c.10364-2575G>T (n.10364-2575G>T) | |
| 2 | g.178740935C>G | CA349615715 | TTN | c.10361-2575G>C (n.10361-2575G>C) c.11785G>C (p.Ala3929Pro) c.11584G>C (p.Ala3862Pro) c.11209G>C (p.Ala3737Pro) c.12298G>C (p.Ala4100Pro) c.11347G>C (p.Ala3783Pro) c.11395G>C (p.Ala3799Pro) c.11254G>C (p.Ala3752Pro) c.11350G>C (p.Ala3784Pro) c.10364-2575G>C (n.10364-2575G>C) | |
| 2 | g.178740935C>T | CA349615714 | TTN | c.10361-2575G>A (n.10361-2575G>A) c.11785G>A (p.Ala3929Thr) c.11584G>A (p.Ala3862Thr) c.11209G>A (p.Ala3737Thr) c.12298G>A (p.Ala4100Thr) c.11347G>A (p.Ala3783Thr) c.11395G>A (p.Ala3799Thr) c.11254G>A (p.Ala3752Thr) c.11350G>A (p.Ala3784Thr) c.10364-2575G>A (n.10364-2575G>A) | |
| 2 | g.178740936T>A | CA349615718 | TTN | c.10361-2576A>T (n.10361-2576A>T) c.11784A>T (p.Lys3928Asn) c.11583A>T (p.Lys3861Asn) c.11208A>T (p.Lys3736Asn) c.12297A>T (p.Lys4099Asn) c.11346A>T (p.Lys3782Asn) c.11394A>T (p.Lys3798Asn) c.11253A>T (p.Lys3751Asn) c.11349A>T (p.Lys3783Asn) c.10364-2576A>T (n.10364-2576A>T) | |
| 2 | g.178740936T>C | CA430296217 | TTN | c.10361-2576A>G (n.10361-2576A>G) c.11784A>G (p.Lys3928=) c.11583A>G (p.Lys3861=) c.11208A>G (p.Lys3736=) c.12297A>G (p.Lys4099=) c.11346A>G (p.Lys3782=) c.11394A>G (p.Lys3798=) c.11253A>G (p.Lys3751=) c.11349A>G (p.Lys3783=) c.10364-2576A>G (n.10364-2576A>G) | |
| 2 | g.178740936T>G | CA349615720 | TTN | c.10361-2576A>C (n.10361-2576A>C) c.11784A>C (p.Lys3928Asn) c.11583A>C (p.Lys3861Asn) c.11208A>C (p.Lys3736Asn) c.12297A>C (p.Lys4099Asn) c.11346A>C (p.Lys3782Asn) c.11394A>C (p.Lys3798Asn) c.11253A>C (p.Lys3751Asn) c.11349A>C (p.Lys3783Asn) c.10364-2576A>C (n.10364-2576A>C) | |
| 2 | g.178740937T>A | CA349615723 | TTN | c.10361-2577A>T (n.10361-2577A>T) c.11783A>T (p.Lys3928Ile) c.11582A>T (p.Lys3861Ile) c.11207A>T (p.Lys3736Ile) c.12296A>T (p.Lys4099Ile) c.11345A>T (p.Lys3782Ile) c.11393A>T (p.Lys3798Ile) c.11252A>T (p.Lys3751Ile) c.11348A>T (p.Lys3783Ile) c.10364-2577A>T (n.10364-2577A>T) | |
| 2 | g.178740937T>C | CA349615725 | TTN | c.10361-2577A>G (n.10361-2577A>G) c.11783A>G (p.Lys3928Arg) c.11582A>G (p.Lys3861Arg) c.11207A>G (p.Lys3736Arg) c.12296A>G (p.Lys4099Arg) c.11345A>G (p.Lys3782Arg) c.11393A>G (p.Lys3798Arg) c.11252A>G (p.Lys3751Arg) c.11348A>G (p.Lys3783Arg) c.10364-2577A>G (n.10364-2577A>G) | |
| 2 | g.178740937T>G | CA349615726 | TTN | c.10361-2577A>C (n.10361-2577A>C) c.11783A>C (p.Lys3928Thr) c.11582A>C (p.Lys3861Thr) c.11207A>C (p.Lys3736Thr) c.12296A>C (p.Lys4099Thr) c.11345A>C (p.Lys3782Thr) c.11393A>C (p.Lys3798Thr) c.11252A>C (p.Lys3751Thr) c.11348A>C (p.Lys3783Thr) c.10364-2577A>C (n.10364-2577A>C) | |
| 2 | g.178740938T>A | CA349615729 | TTN | c.10361-2578A>T (n.10361-2578A>T) c.11782A>T (p.Lys3928Ter) c.11581A>T (p.Lys3861Ter) c.11206A>T (p.Lys3736Ter) c.12295A>T (p.Lys4099Ter) c.11344A>T (p.Lys3782Ter) c.11392A>T (p.Lys3798Ter) c.11251A>T (p.Lys3751Ter) c.11347A>T (p.Lys3783Ter) c.10364-2578A>T (n.10364-2578A>T) | |
| 2 | g.178740938T>C | CA349615730 | TTN | c.10361-2578A>G (n.10361-2578A>G) c.11782A>G (p.Lys3928Glu) c.11581A>G (p.Lys3861Glu) c.11206A>G (p.Lys3736Glu) c.12295A>G (p.Lys4099Glu) c.11344A>G (p.Lys3782Glu) c.11392A>G (p.Lys3798Glu) c.11251A>G (p.Lys3751Glu) c.11347A>G (p.Lys3783Glu) c.10364-2578A>G (n.10364-2578A>G) | |
| 2 | g.178740938T>G | CA349615733 | TTN | c.10361-2578A>C (n.10361-2578A>C) c.11782A>C (p.Lys3928Gln) c.11581A>C (p.Lys3861Gln) c.11206A>C (p.Lys3736Gln) c.12295A>C (p.Lys4099Gln) c.11344A>C (p.Lys3782Gln) c.11392A>C (p.Lys3798Gln) c.11251A>C (p.Lys3751Gln) c.11347A>C (p.Lys3783Gln) c.10364-2578A>C (n.10364-2578A>C) | |
| 2 | g.178740939A= | CA1310601806 | TTN | c.10361-2579T= (n.10361-2579T=) c.11781T= (p.Ala3927=) c.11580T= (p.Ala3860=) c.11205T= (p.Ala3735=) c.12294T= (p.Ala4098=) c.11343T= (p.Ala3781=) c.11391T= (p.Ala3797=) c.11250T= (p.Ala3750=) c.11346T= (p.Ala3782=) c.10364-2579T= (n.10364-2579T=) | |
| 2 | g.178740939A>C | CA430296220 | TTN | c.10361-2579T>G (n.10361-2579T>G) c.11781T>G (p.Ala3927=) c.11580T>G (p.Ala3860=) c.11205T>G (p.Ala3735=) c.12294T>G (p.Ala4098=) c.11343T>G (p.Ala3781=) c.11391T>G (p.Ala3797=) c.11250T>G (p.Ala3750=) c.11346T>G (p.Ala3782=) c.10364-2579T>G (n.10364-2579T>G) | |
| 2 | g.178740939A>G | CA430296221 | TTN | c.10361-2579T>C (n.10361-2579T>C) c.11781T>C (p.Ala3927=) c.11580T>C (p.Ala3860=) c.11205T>C (p.Ala3735=) c.12294T>C (p.Ala4098=) c.11343T>C (p.Ala3781=) c.11391T>C (p.Ala3797=) c.11250T>C (p.Ala3750=) c.11346T>C (p.Ala3782=) c.10364-2579T>C (n.10364-2579T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178740939A>T | CA430296222 | TTN | c.10361-2579T>A (n.10361-2579T>A) c.11781T>A (p.Ala3927=) c.11580T>A (p.Ala3860=) c.11205T>A (p.Ala3735=) c.12294T>A (p.Ala4098=) c.11343T>A (p.Ala3781=) c.11391T>A (p.Ala3797=) c.11250T>A (p.Ala3750=) c.11346T>A (p.Ala3782=) c.10364-2579T>A (n.10364-2579T>A) | gnomAD v4 |
| 2 | g.178740940G>A | CA349615736 | TTN | c.10361-2580C>T (n.10361-2580C>T) c.11780C>T (p.Ala3927Val) c.11579C>T (p.Ala3860Val) c.11204C>T (p.Ala3735Val) c.12293C>T (p.Ala4098Val) c.11342C>T (p.Ala3781Val) c.11390C>T (p.Ala3797Val) c.11249C>T (p.Ala3750Val) c.11345C>T (p.Ala3782Val) c.10364-2580C>T (n.10364-2580C>T) | gnomAD v4 |
| 2 | g.178740940G>C | CA349615738 | TTN | c.10361-2580C>G (n.10361-2580C>G) c.11780C>G (p.Ala3927Gly) c.11579C>G (p.Ala3860Gly) c.11204C>G (p.Ala3735Gly) c.12293C>G (p.Ala4098Gly) c.11342C>G (p.Ala3781Gly) c.11390C>G (p.Ala3797Gly) c.11249C>G (p.Ala3750Gly) c.11345C>G (p.Ala3782Gly) c.10364-2580C>G (n.10364-2580C>G) |