| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178584678A>C | CA349436078 | TTN,TTN-AS1 | c.57259T>G (p.Phe19087Val) c.38344T>G (p.Phe12782Val) c.38143T>G (p.Phe12715Val) c.37768T>G (p.Phe12590Val) c.64963T>G (p.Phe21655Val) c.60040T>G (p.Phe20014Val) n.597-12918A>C n.2873A>C c.64060T>G (p.Phe21354Val) c.37954T>G (p.Phe12652Val) c.37813T>G (p.Phe12605Val) c.63856T>G (p.Phe21286Val) c.59254T>G (p.Phe19752Val) c.59251T>G (p.Phe19751Val) c.56293T>G (p.Phe18765Val) c.37909T>G (p.Phe12637Val) c.59404T>G (p.Phe19802Val) c.59401T>G (p.Phe19801Val) c.58834T>G (p.Phe19612Val) c.56176T>G (p.Phe18726Val) c.56095T>G (p.Phe18699Val) c.37858T>G (p.Phe12620Val) c.27712T>G (p.Phe9238Val) | |
| 2 | g.178584678A>G | CA349436079 | TTN,TTN-AS1 | c.57259T>C (p.Phe19087Leu) c.38344T>C (p.Phe12782Leu) c.38143T>C (p.Phe12715Leu) c.37768T>C (p.Phe12590Leu) c.64963T>C (p.Phe21655Leu) c.60040T>C (p.Phe20014Leu) n.597-12918A>G n.2873A>G c.64060T>C (p.Phe21354Leu) c.37954T>C (p.Phe12652Leu) c.37813T>C (p.Phe12605Leu) c.63856T>C (p.Phe21286Leu) c.59254T>C (p.Phe19752Leu) c.59251T>C (p.Phe19751Leu) c.56293T>C (p.Phe18765Leu) c.37909T>C (p.Phe12637Leu) c.59404T>C (p.Phe19802Leu) c.59401T>C (p.Phe19801Leu) c.58834T>C (p.Phe19612Leu) c.56176T>C (p.Phe18726Leu) c.56095T>C (p.Phe18699Leu) c.37858T>C (p.Phe12620Leu) c.27712T>C (p.Phe9238Leu) | |
| 2 | g.178584678A>T | CA349436080 | TTN,TTN-AS1 | c.57259T>A (p.Phe19087Ile) c.38344T>A (p.Phe12782Ile) c.38143T>A (p.Phe12715Ile) c.37768T>A (p.Phe12590Ile) c.64963T>A (p.Phe21655Ile) c.60040T>A (p.Phe20014Ile) n.597-12918A>T n.2873A>T c.64060T>A (p.Phe21354Ile) c.37954T>A (p.Phe12652Ile) c.37813T>A (p.Phe12605Ile) c.63856T>A (p.Phe21286Ile) c.59254T>A (p.Phe19752Ile) c.59251T>A (p.Phe19751Ile) c.56293T>A (p.Phe18765Ile) c.37909T>A (p.Phe12637Ile) c.59404T>A (p.Phe19802Ile) c.59401T>A (p.Phe19801Ile) c.58834T>A (p.Phe19612Ile) c.56176T>A (p.Phe18726Ile) c.56095T>A (p.Phe18699Ile) c.37858T>A (p.Phe12620Ile) c.27712T>A (p.Phe9238Ile) | |
| 2 | g.178584679C>A | CA349436082 | TTN,TTN-AS1 | c.57258G>T (p.Gln19086His) c.38343G>T (p.Gln12781His) c.38142G>T (p.Gln12714His) c.37767G>T (p.Gln12589His) c.64962G>T (p.Gln21654His) c.60039G>T (p.Gln20013His) n.597-12917C>A n.2874C>A c.64059G>T (p.Gln21353His) c.37953G>T (p.Gln12651His) c.37812G>T (p.Gln12604His) c.63855G>T (p.Gln21285His) c.59253G>T (p.Gln19751His) c.59250G>T (p.Gln19750His) c.56292G>T (p.Gln18764His) c.37908G>T (p.Gln12636His) c.59403G>T (p.Gln19801His) c.59400G>T (p.Gln19800His) c.58833G>T (p.Gln19611His) c.56175G>T (p.Gln18725His) c.56094G>T (p.Gln18698His) c.37857G>T (p.Gln12619His) c.27711G>T (p.Gln9237His) | |
| 2 | g.178584679C>G | CA349436083 | TTN,TTN-AS1 | c.57258G>C (p.Gln19086His) c.38343G>C (p.Gln12781His) c.38142G>C (p.Gln12714His) c.37767G>C (p.Gln12589His) c.64962G>C (p.Gln21654His) c.60039G>C (p.Gln20013His) n.597-12917C>G n.2874C>G c.64059G>C (p.Gln21353His) c.37953G>C (p.Gln12651His) c.37812G>C (p.Gln12604His) c.63855G>C (p.Gln21285His) c.59253G>C (p.Gln19751His) c.59250G>C (p.Gln19750His) c.56292G>C (p.Gln18764His) c.37908G>C (p.Gln12636His) c.59403G>C (p.Gln19801His) c.59400G>C (p.Gln19800His) c.58833G>C (p.Gln19611His) c.56175G>C (p.Gln18725His) c.56094G>C (p.Gln18698His) c.37857G>C (p.Gln12619His) c.27711G>C (p.Gln9237His) | |
| 2 | g.178584679C>T | CA430264060 | TTN,TTN-AS1 | c.57258G>A (p.Gln19086=) c.38343G>A (p.Gln12781=) c.38142G>A (p.Gln12714=) c.37767G>A (p.Gln12589=) c.64962G>A (p.Gln21654=) c.60039G>A (p.Gln20013=) n.597-12917C>T n.2874C>T c.64059G>A (p.Gln21353=) c.37953G>A (p.Gln12651=) c.37812G>A (p.Gln12604=) c.63855G>A (p.Gln21285=) c.59253G>A (p.Gln19751=) c.59250G>A (p.Gln19750=) c.56292G>A (p.Gln18764=) c.37908G>A (p.Gln12636=) c.59403G>A (p.Gln19801=) c.59400G>A (p.Gln19800=) c.58833G>A (p.Gln19611=) c.56175G>A (p.Gln18725=) c.56094G>A (p.Gln18698=) c.37857G>A (p.Gln12619=) c.27711G>A (p.Gln9237=) | |
| 2 | g.178584680T>A | CA349436085 | TTN,TTN-AS1 | c.57257A>T (p.Gln19086Leu) c.38342A>T (p.Gln12781Leu) c.38141A>T (p.Gln12714Leu) c.37766A>T (p.Gln12589Leu) c.64961A>T (p.Gln21654Leu) c.60038A>T (p.Gln20013Leu) n.597-12916T>A n.2875T>A c.64058A>T (p.Gln21353Leu) c.37952A>T (p.Gln12651Leu) c.37811A>T (p.Gln12604Leu) c.63854A>T (p.Gln21285Leu) c.59252A>T (p.Gln19751Leu) c.59249A>T (p.Gln19750Leu) c.56291A>T (p.Gln18764Leu) c.37907A>T (p.Gln12636Leu) c.59402A>T (p.Gln19801Leu) c.59399A>T (p.Gln19800Leu) c.58832A>T (p.Gln19611Leu) c.56174A>T (p.Gln18725Leu) c.56093A>T (p.Gln18698Leu) c.37856A>T (p.Gln12619Leu) c.27710A>T (p.Gln9237Leu) | |
| 2 | g.178584680T>C | CA1991813 | TTN,TTN-AS1 | c.57257A>G (p.Gln19086Arg) c.38342A>G (p.Gln12781Arg) c.38141A>G (p.Gln12714Arg) c.37766A>G (p.Gln12589Arg) c.64961A>G (p.Gln21654Arg) c.60038A>G (p.Gln20013Arg) n.597-12916T>C n.2875T>C c.64058A>G (p.Gln21353Arg) c.37952A>G (p.Gln12651Arg) c.37811A>G (p.Gln12604Arg) c.63854A>G (p.Gln21285Arg) c.59252A>G (p.Gln19751Arg) c.59249A>G (p.Gln19750Arg) c.56291A>G (p.Gln18764Arg) c.37907A>G (p.Gln12636Arg) c.59402A>G (p.Gln19801Arg) c.59399A>G (p.Gln19800Arg) c.58832A>G (p.Gln19611Arg) c.56174A>G (p.Gln18725Arg) c.56093A>G (p.Gln18698Arg) c.37856A>G (p.Gln12619Arg) c.27710A>G (p.Gln9237Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178584680T>G | CA349436087 | TTN,TTN-AS1 | c.57257A>C (p.Gln19086Pro) c.38342A>C (p.Gln12781Pro) c.38141A>C (p.Gln12714Pro) c.37766A>C (p.Gln12589Pro) c.64961A>C (p.Gln21654Pro) c.60038A>C (p.Gln20013Pro) n.597-12916T>G n.2875T>G c.64058A>C (p.Gln21353Pro) c.37952A>C (p.Gln12651Pro) c.37811A>C (p.Gln12604Pro) c.63854A>C (p.Gln21285Pro) c.59252A>C (p.Gln19751Pro) c.59249A>C (p.Gln19750Pro) c.56291A>C (p.Gln18764Pro) c.37907A>C (p.Gln12636Pro) c.59402A>C (p.Gln19801Pro) c.59399A>C (p.Gln19800Pro) c.58832A>C (p.Gln19611Pro) c.56174A>C (p.Gln18725Pro) c.56093A>C (p.Gln18698Pro) c.37856A>C (p.Gln12619Pro) c.27710A>C (p.Gln9237Pro) | |
| 2 | g.178584680T= | CA1310537123 | TTN,TTN-AS1 | c.57257A= (p.Gln19086=) c.38342A= (p.Gln12781=) c.38141A= (p.Gln12714=) c.37766A= (p.Gln12589=) c.64961A= (p.Gln21654=) c.60038A= (p.Gln20013=) n.597-12916T= n.2875T= c.64058A= (p.Gln21353=) c.37952A= (p.Gln12651=) c.37811A= (p.Gln12604=) c.63854A= (p.Gln21285=) c.59252A= (p.Gln19751=) c.59249A= (p.Gln19750=) c.56291A= (p.Gln18764=) c.37907A= (p.Gln12636=) c.59402A= (p.Gln19801=) c.59399A= (p.Gln19800=) c.58832A= (p.Gln19611=) c.56174A= (p.Gln18725=) c.56093A= (p.Gln18698=) c.37856A= (p.Gln12619=) c.27710A= (p.Gln9237=) | |
| 2 | g.178584681G>A | CA349436092 | TTN,TTN-AS1 | c.57256C>T (p.Gln19086Ter) c.38341C>T (p.Gln12781Ter) c.38140C>T (p.Gln12714Ter) c.37765C>T (p.Gln12589Ter) c.64960C>T (p.Gln21654Ter) c.60037C>T (p.Gln20013Ter) n.597-12915G>A n.2876G>A c.64057C>T (p.Gln21353Ter) c.37951C>T (p.Gln12651Ter) c.37810C>T (p.Gln12604Ter) c.63853C>T (p.Gln21285Ter) c.59251C>T (p.Gln19751Ter) c.59248C>T (p.Gln19750Ter) c.56290C>T (p.Gln18764Ter) c.37906C>T (p.Gln12636Ter) c.59401C>T (p.Gln19801Ter) c.59398C>T (p.Gln19800Ter) c.58831C>T (p.Gln19611Ter) c.56173C>T (p.Gln18725Ter) c.56092C>T (p.Gln18698Ter) c.37855C>T (p.Gln12619Ter) c.27709C>T (p.Gln9237Ter) | |
| 2 | g.178584681G>C | CA349436091 | TTN,TTN-AS1 | c.57256C>G (p.Gln19086Glu) c.38341C>G (p.Gln12781Glu) c.38140C>G (p.Gln12714Glu) c.37765C>G (p.Gln12589Glu) c.64960C>G (p.Gln21654Glu) c.60037C>G (p.Gln20013Glu) n.597-12915G>C n.2876G>C c.64057C>G (p.Gln21353Glu) c.37951C>G (p.Gln12651Glu) c.37810C>G (p.Gln12604Glu) c.63853C>G (p.Gln21285Glu) c.59251C>G (p.Gln19751Glu) c.59248C>G (p.Gln19750Glu) c.56290C>G (p.Gln18764Glu) c.37906C>G (p.Gln12636Glu) c.59401C>G (p.Gln19801Glu) c.59398C>G (p.Gln19800Glu) c.58831C>G (p.Gln19611Glu) c.56173C>G (p.Gln18725Glu) c.56092C>G (p.Gln18698Glu) c.37855C>G (p.Gln12619Glu) c.27709C>G (p.Gln9237Glu) | |
| 2 | g.178584681G>T | CA349436089 | TTN,TTN-AS1 | c.57256C>A (p.Gln19086Lys) c.38341C>A (p.Gln12781Lys) c.38140C>A (p.Gln12714Lys) c.37765C>A (p.Gln12589Lys) c.64960C>A (p.Gln21654Lys) c.60037C>A (p.Gln20013Lys) n.597-12915G>T n.2876G>T c.64057C>A (p.Gln21353Lys) c.37951C>A (p.Gln12651Lys) c.37810C>A (p.Gln12604Lys) c.63853C>A (p.Gln21285Lys) c.59251C>A (p.Gln19751Lys) c.59248C>A (p.Gln19750Lys) c.56290C>A (p.Gln18764Lys) c.37906C>A (p.Gln12636Lys) c.59401C>A (p.Gln19801Lys) c.59398C>A (p.Gln19800Lys) c.58831C>A (p.Gln19611Lys) c.56173C>A (p.Gln18725Lys) c.56092C>A (p.Gln18698Lys) c.37855C>A (p.Gln12619Lys) c.27709C>A (p.Gln9237Lys) | |
| 2 | g.178584682C>A | CA430264065 | TTN,TTN-AS1 | c.57255G>T (p.Ala19085=) c.38340G>T (p.Ala12780=) c.38139G>T (p.Ala12713=) c.37764G>T (p.Ala12588=) c.64959G>T (p.Ala21653=) c.60036G>T (p.Ala20012=) n.597-12914C>A n.2877C>A c.64056G>T (p.Ala21352=) c.37950G>T (p.Ala12650=) c.37809G>T (p.Ala12603=) c.63852G>T (p.Ala21284=) c.59250G>T (p.Ala19750=) c.59247G>T (p.Ala19749=) c.56289G>T (p.Ala18763=) c.37905G>T (p.Ala12635=) c.59400G>T (p.Ala19800=) c.59397G>T (p.Ala19799=) c.58830G>T (p.Ala19610=) c.56172G>T (p.Ala18724=) c.56091G>T (p.Ala18697=) c.37854G>T (p.Ala12618=) c.27708G>T (p.Ala9236=) | |
| 2 | g.178584682C= | CA1310537124 | TTN,TTN-AS1 | c.57255G= (p.Ala19085=) c.38340G= (p.Ala12780=) c.38139G= (p.Ala12713=) c.37764G= (p.Ala12588=) c.64959G= (p.Ala21653=) c.60036G= (p.Ala20012=) n.597-12914C= n.2877C= c.64056G= (p.Ala21352=) c.37950G= (p.Ala12650=) c.37809G= (p.Ala12603=) c.63852G= (p.Ala21284=) c.59250G= (p.Ala19750=) c.59247G= (p.Ala19749=) c.56289G= (p.Ala18763=) c.37905G= (p.Ala12635=) c.59400G= (p.Ala19800=) c.59397G= (p.Ala19799=) c.58830G= (p.Ala19610=) c.56172G= (p.Ala18724=) c.56091G= (p.Ala18697=) c.37854G= (p.Ala12618=) c.27708G= (p.Ala9236=) | |
| 2 | g.178584682C>G | CA430264067 | TTN,TTN-AS1 | c.57255G>C (p.Ala19085=) c.38340G>C (p.Ala12780=) c.38139G>C (p.Ala12713=) c.37764G>C (p.Ala12588=) c.64959G>C (p.Ala21653=) c.60036G>C (p.Ala20012=) n.597-12914C>G n.2877C>G c.64056G>C (p.Ala21352=) c.37950G>C (p.Ala12650=) c.37809G>C (p.Ala12603=) c.63852G>C (p.Ala21284=) c.59250G>C (p.Ala19750=) c.59247G>C (p.Ala19749=) c.56289G>C (p.Ala18763=) c.37905G>C (p.Ala12635=) c.59400G>C (p.Ala19800=) c.59397G>C (p.Ala19799=) c.58830G>C (p.Ala19610=) c.56172G>C (p.Ala18724=) c.56091G>C (p.Ala18697=) c.37854G>C (p.Ala12618=) c.27708G>C (p.Ala9236=) | gnomAD v4 |
| 2 | g.178584682C>T | CA1991814 | TTN,TTN-AS1 | c.57255G>A (p.Ala19085=) c.38340G>A (p.Ala12780=) c.38139G>A (p.Ala12713=) c.37764G>A (p.Ala12588=) c.64959G>A (p.Ala21653=) c.60036G>A (p.Ala20012=) n.597-12914C>T n.2877C>T c.64056G>A (p.Ala21352=) c.37950G>A (p.Ala12650=) c.37809G>A (p.Ala12603=) c.63852G>A (p.Ala21284=) c.59250G>A (p.Ala19750=) c.59247G>A (p.Ala19749=) c.56289G>A (p.Ala18763=) c.37905G>A (p.Ala12635=) c.59400G>A (p.Ala19800=) c.59397G>A (p.Ala19799=) c.58830G>A (p.Ala19610=) c.56172G>A (p.Ala18724=) c.56091G>A (p.Ala18697=) c.37854G>A (p.Ala12618=) c.27708G>A (p.Ala9236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178584683G>A | CA349436100 | TTN,TTN-AS1 | c.57254C>T (p.Ala19085Val) c.38339C>T (p.Ala12780Val) c.38138C>T (p.Ala12713Val) c.37763C>T (p.Ala12588Val) c.64958C>T (p.Ala21653Val) c.60035C>T (p.Ala20012Val) n.597-12913G>A n.2878G>A c.64055C>T (p.Ala21352Val) c.37949C>T (p.Ala12650Val) c.37808C>T (p.Ala12603Val) c.63851C>T (p.Ala21284Val) c.59249C>T (p.Ala19750Val) c.59246C>T (p.Ala19749Val) c.56288C>T (p.Ala18763Val) c.37904C>T (p.Ala12635Val) c.59399C>T (p.Ala19800Val) c.59396C>T (p.Ala19799Val) c.58829C>T (p.Ala19610Val) c.56171C>T (p.Ala18724Val) c.56090C>T (p.Ala18697Val) c.37853C>T (p.Ala12618Val) c.27707C>T (p.Ala9236Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178584683G>C | CA349436102 | TTN,TTN-AS1 | c.57254C>G (p.Ala19085Gly) c.38339C>G (p.Ala12780Gly) c.38138C>G (p.Ala12713Gly) c.37763C>G (p.Ala12588Gly) c.64958C>G (p.Ala21653Gly) c.60035C>G (p.Ala20012Gly) n.597-12913G>C n.2878G>C c.64055C>G (p.Ala21352Gly) c.37949C>G (p.Ala12650Gly) c.37808C>G (p.Ala12603Gly) c.63851C>G (p.Ala21284Gly) c.59249C>G (p.Ala19750Gly) c.59246C>G (p.Ala19749Gly) c.56288C>G (p.Ala18763Gly) c.37904C>G (p.Ala12635Gly) c.59399C>G (p.Ala19800Gly) c.59396C>G (p.Ala19799Gly) c.58829C>G (p.Ala19610Gly) c.56171C>G (p.Ala18724Gly) c.56090C>G (p.Ala18697Gly) c.37853C>G (p.Ala12618Gly) c.27707C>G (p.Ala9236Gly) | |
| 2 | g.178584683G= | CA1310537125 | TTN,TTN-AS1 | c.57254C= (p.Ala19085=) c.38339C= (p.Ala12780=) c.38138C= (p.Ala12713=) c.37763C= (p.Ala12588=) c.64958C= (p.Ala21653=) c.60035C= (p.Ala20012=) n.597-12913G= n.2878G= c.64055C= (p.Ala21352=) c.37949C= (p.Ala12650=) c.37808C= (p.Ala12603=) c.63851C= (p.Ala21284=) c.59249C= (p.Ala19750=) c.59246C= (p.Ala19749=) c.56288C= (p.Ala18763=) c.37904C= (p.Ala12635=) c.59399C= (p.Ala19800=) c.59396C= (p.Ala19799=) c.58829C= (p.Ala19610=) c.56171C= (p.Ala18724=) c.56090C= (p.Ala18697=) c.37853C= (p.Ala12618=) c.27707C= (p.Ala9236=) | |
| 2 | g.178584683G>T | CA349436104 | TTN,TTN-AS1 | c.57254C>A (p.Ala19085Glu) c.38339C>A (p.Ala12780Glu) c.38138C>A (p.Ala12713Glu) c.37763C>A (p.Ala12588Glu) c.64958C>A (p.Ala21653Glu) c.60035C>A (p.Ala20012Glu) n.597-12913G>T n.2878G>T c.64055C>A (p.Ala21352Glu) c.37949C>A (p.Ala12650Glu) c.37808C>A (p.Ala12603Glu) c.63851C>A (p.Ala21284Glu) c.59249C>A (p.Ala19750Glu) c.59246C>A (p.Ala19749Glu) c.56288C>A (p.Ala18763Glu) c.37904C>A (p.Ala12635Glu) c.59399C>A (p.Ala19800Glu) c.59396C>A (p.Ala19799Glu) c.58829C>A (p.Ala19610Glu) c.56171C>A (p.Ala18724Glu) c.56090C>A (p.Ala18697Glu) c.37853C>A (p.Ala12618Glu) c.27707C>A (p.Ala9236Glu) | |
| 2 | g.178584684C>A | CA349436107 | TTN,TTN-AS1 | c.57253G>T (p.Ala19085Ser) c.38338G>T (p.Ala12780Ser) c.38137G>T (p.Ala12713Ser) c.37762G>T (p.Ala12588Ser) c.64957G>T (p.Ala21653Ser) c.60034G>T (p.Ala20012Ser) n.597-12912C>A n.2879C>A c.64054G>T (p.Ala21352Ser) c.37948G>T (p.Ala12650Ser) c.37807G>T (p.Ala12603Ser) c.63850G>T (p.Ala21284Ser) c.59248G>T (p.Ala19750Ser) c.59245G>T (p.Ala19749Ser) c.56287G>T (p.Ala18763Ser) c.37903G>T (p.Ala12635Ser) c.59398G>T (p.Ala19800Ser) c.59395G>T (p.Ala19799Ser) c.58828G>T (p.Ala19610Ser) c.56170G>T (p.Ala18724Ser) c.56089G>T (p.Ala18697Ser) c.37852G>T (p.Ala12618Ser) c.27706G>T (p.Ala9236Ser) | |
| 2 | g.178584684C= | CA1310537126 | TTN,TTN-AS1 | c.57253G= (p.Ala19085=) c.38338G= (p.Ala12780=) c.38137G= (p.Ala12713=) c.37762G= (p.Ala12588=) c.64957G= (p.Ala21653=) c.60034G= (p.Ala20012=) n.597-12912C= n.2879C= c.64054G= (p.Ala21352=) c.37948G= (p.Ala12650=) c.37807G= (p.Ala12603=) c.63850G= (p.Ala21284=) c.59248G= (p.Ala19750=) c.59245G= (p.Ala19749=) c.56287G= (p.Ala18763=) c.37903G= (p.Ala12635=) c.59398G= (p.Ala19800=) c.59395G= (p.Ala19799=) c.58828G= (p.Ala19610=) c.56170G= (p.Ala18724=) c.56089G= (p.Ala18697=) c.37852G= (p.Ala12618=) c.27706G= (p.Ala9236=) | |
| 2 | g.178584684C>G | CA349436108 | TTN,TTN-AS1 | c.57253G>C (p.Ala19085Pro) c.38338G>C (p.Ala12780Pro) c.38137G>C (p.Ala12713Pro) c.37762G>C (p.Ala12588Pro) c.64957G>C (p.Ala21653Pro) c.60034G>C (p.Ala20012Pro) n.597-12912C>G n.2879C>G c.64054G>C (p.Ala21352Pro) c.37948G>C (p.Ala12650Pro) c.37807G>C (p.Ala12603Pro) c.63850G>C (p.Ala21284Pro) c.59248G>C (p.Ala19750Pro) c.59245G>C (p.Ala19749Pro) c.56287G>C (p.Ala18763Pro) c.37903G>C (p.Ala12635Pro) c.59398G>C (p.Ala19800Pro) c.59395G>C (p.Ala19799Pro) c.58828G>C (p.Ala19610Pro) c.56170G>C (p.Ala18724Pro) c.56089G>C (p.Ala18697Pro) c.37852G>C (p.Ala12618Pro) c.27706G>C (p.Ala9236Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178584684C>T | CA349436110 | TTN,TTN-AS1 | c.57253G>A (p.Ala19085Thr) c.38338G>A (p.Ala12780Thr) c.38137G>A (p.Ala12713Thr) c.37762G>A (p.Ala12588Thr) c.64957G>A (p.Ala21653Thr) c.60034G>A (p.Ala20012Thr) n.597-12912C>T n.2879C>T c.64054G>A (p.Ala21352Thr) c.37948G>A (p.Ala12650Thr) c.37807G>A (p.Ala12603Thr) c.63850G>A (p.Ala21284Thr) c.59248G>A (p.Ala19750Thr) c.59245G>A (p.Ala19749Thr) c.56287G>A (p.Ala18763Thr) c.37903G>A (p.Ala12635Thr) c.59398G>A (p.Ala19800Thr) c.59395G>A (p.Ala19799Thr) c.58828G>A (p.Ala19610Thr) c.56170G>A (p.Ala18724Thr) c.56089G>A (p.Ala18697Thr) c.37852G>A (p.Ala12618Thr) c.27706G>A (p.Ala9236Thr) | gnomAD v4 |
| 2 | g.178584685A>C | CA430264071 | TTN,TTN-AS1 | c.57252T>G (p.Val19084=) c.38337T>G (p.Val12779=) c.38136T>G (p.Val12712=) c.37761T>G (p.Val12587=) c.64956T>G (p.Val21652=) c.60033T>G (p.Val20011=) n.597-12911A>C n.2880A>C c.64053T>G (p.Val21351=) c.37947T>G (p.Val12649=) c.37806T>G (p.Val12602=) c.63849T>G (p.Val21283=) c.59247T>G (p.Val19749=) c.59244T>G (p.Val19748=) c.56286T>G (p.Val18762=) c.37902T>G (p.Val12634=) c.59397T>G (p.Val19799=) c.59394T>G (p.Val19798=) c.58827T>G (p.Val19609=) c.56169T>G (p.Val18723=) c.56088T>G (p.Val18696=) c.37851T>G (p.Val12617=) c.27705T>G (p.Val9235=) | |
| 2 | g.178584685A>G | CA430264073 | TTN,TTN-AS1 | c.57252T>C (p.Val19084=) c.38337T>C (p.Val12779=) c.38136T>C (p.Val12712=) c.37761T>C (p.Val12587=) c.64956T>C (p.Val21652=) c.60033T>C (p.Val20011=) n.597-12911A>G n.2880A>G c.64053T>C (p.Val21351=) c.37947T>C (p.Val12649=) c.37806T>C (p.Val12602=) c.63849T>C (p.Val21283=) c.59247T>C (p.Val19749=) c.59244T>C (p.Val19748=) c.56286T>C (p.Val18762=) c.37902T>C (p.Val12634=) c.59397T>C (p.Val19799=) c.59394T>C (p.Val19798=) c.58827T>C (p.Val19609=) c.56169T>C (p.Val18723=) c.56088T>C (p.Val18696=) c.37851T>C (p.Val12617=) c.27705T>C (p.Val9235=) | ClinVar |
| 2 | g.178584685A>T | CA430264074 | TTN,TTN-AS1 | c.57252T>A (p.Val19084=) c.38337T>A (p.Val12779=) c.38136T>A (p.Val12712=) c.37761T>A (p.Val12587=) c.64956T>A (p.Val21652=) c.60033T>A (p.Val20011=) n.597-12911A>T n.2880A>T c.64053T>A (p.Val21351=) c.37947T>A (p.Val12649=) c.37806T>A (p.Val12602=) c.63849T>A (p.Val21283=) c.59247T>A (p.Val19749=) c.59244T>A (p.Val19748=) c.56286T>A (p.Val18762=) c.37902T>A (p.Val12634=) c.59397T>A (p.Val19799=) c.59394T>A (p.Val19798=) c.58827T>A (p.Val19609=) c.56169T>A (p.Val18723=) c.56088T>A (p.Val18696=) c.37851T>A (p.Val12617=) c.27705T>A (p.Val9235=) | ClinVar dbSNP |
| 2 | g.178584686A= | CA1310537127 | TTN,TTN-AS1 | c.57251T= (p.Val19084=) c.38336T= (p.Val12779=) c.38135T= (p.Val12712=) c.37760T= (p.Val12587=) c.64955T= (p.Val21652=) c.60032T= (p.Val20011=) n.597-12910A= n.2881A= c.64052T= (p.Val21351=) c.37946T= (p.Val12649=) c.37805T= (p.Val12602=) c.63848T= (p.Val21283=) c.59246T= (p.Val19749=) c.59243T= (p.Val19748=) c.56285T= (p.Val18762=) c.37901T= (p.Val12634=) c.59396T= (p.Val19799=) c.59393T= (p.Val19798=) c.58826T= (p.Val19609=) c.56168T= (p.Val18723=) c.56087T= (p.Val18696=) c.37850T= (p.Val12617=) c.27704T= (p.Val9235=) | |
| 2 | g.178584686A>C | CA349436113 | TTN,TTN-AS1 | c.57251T>G (p.Val19084Gly) c.38336T>G (p.Val12779Gly) c.38135T>G (p.Val12712Gly) c.37760T>G (p.Val12587Gly) c.64955T>G (p.Val21652Gly) c.60032T>G (p.Val20011Gly) n.597-12910A>C n.2881A>C c.64052T>G (p.Val21351Gly) c.37946T>G (p.Val12649Gly) c.37805T>G (p.Val12602Gly) c.63848T>G (p.Val21283Gly) c.59246T>G (p.Val19749Gly) c.59243T>G (p.Val19748Gly) c.56285T>G (p.Val18762Gly) c.37901T>G (p.Val12634Gly) c.59396T>G (p.Val19799Gly) c.59393T>G (p.Val19798Gly) c.58826T>G (p.Val19609Gly) c.56168T>G (p.Val18723Gly) c.56087T>G (p.Val18696Gly) c.37850T>G (p.Val12617Gly) c.27704T>G (p.Val9235Gly) | |
| 2 | g.178584686A>G | CA349436114 | TTN,TTN-AS1 | c.57251T>C (p.Val19084Ala) c.38336T>C (p.Val12779Ala) c.38135T>C (p.Val12712Ala) c.37760T>C (p.Val12587Ala) c.64955T>C (p.Val21652Ala) c.60032T>C (p.Val20011Ala) n.597-12910A>G n.2881A>G c.64052T>C (p.Val21351Ala) c.37946T>C (p.Val12649Ala) c.37805T>C (p.Val12602Ala) c.63848T>C (p.Val21283Ala) c.59246T>C (p.Val19749Ala) c.59243T>C (p.Val19748Ala) c.56285T>C (p.Val18762Ala) c.37901T>C (p.Val12634Ala) c.59396T>C (p.Val19799Ala) c.59393T>C (p.Val19798Ala) c.58826T>C (p.Val19609Ala) c.56168T>C (p.Val18723Ala) c.56087T>C (p.Val18696Ala) c.37850T>C (p.Val12617Ala) c.27704T>C (p.Val9235Ala) | dbSNP gnomAD v4 |
| 2 | g.178584686A>T | CA349436120 | TTN,TTN-AS1 | c.57251T>A (p.Val19084Asp) c.38336T>A (p.Val12779Asp) c.38135T>A (p.Val12712Asp) c.37760T>A (p.Val12587Asp) c.64955T>A (p.Val21652Asp) c.60032T>A (p.Val20011Asp) n.597-12910A>T n.2881A>T c.64052T>A (p.Val21351Asp) c.37946T>A (p.Val12649Asp) c.37805T>A (p.Val12602Asp) c.63848T>A (p.Val21283Asp) c.59246T>A (p.Val19749Asp) c.59243T>A (p.Val19748Asp) c.56285T>A (p.Val18762Asp) c.37901T>A (p.Val12634Asp) c.59396T>A (p.Val19799Asp) c.59393T>A (p.Val19798Asp) c.58826T>A (p.Val19609Asp) c.56168T>A (p.Val18723Asp) c.56087T>A (p.Val18696Asp) c.37850T>A (p.Val12617Asp) c.27704T>A (p.Val9235Asp) | |
| 2 | g.178584687C>A | CA349436121 | TTN,TTN-AS1 | c.57250G>T (p.Val19084Phe) c.38335G>T (p.Val12779Phe) c.38134G>T (p.Val12712Phe) c.37759G>T (p.Val12587Phe) c.64954G>T (p.Val21652Phe) c.60031G>T (p.Val20011Phe) n.597-12909C>A n.2882C>A c.64051G>T (p.Val21351Phe) c.37945G>T (p.Val12649Phe) c.37804G>T (p.Val12602Phe) c.63847G>T (p.Val21283Phe) c.59245G>T (p.Val19749Phe) c.59242G>T (p.Val19748Phe) c.56284G>T (p.Val18762Phe) c.37900G>T (p.Val12634Phe) c.59395G>T (p.Val19799Phe) c.59392G>T (p.Val19798Phe) c.58825G>T (p.Val19609Phe) c.56167G>T (p.Val18723Phe) c.56086G>T (p.Val18696Phe) c.37849G>T (p.Val12617Phe) c.27703G>T (p.Val9235Phe) | |
| 2 | g.178584687C>G | CA349436122 | TTN,TTN-AS1 | c.57250G>C (p.Val19084Leu) c.38335G>C (p.Val12779Leu) c.38134G>C (p.Val12712Leu) c.37759G>C (p.Val12587Leu) c.64954G>C (p.Val21652Leu) c.60031G>C (p.Val20011Leu) n.597-12909C>G n.2882C>G c.64051G>C (p.Val21351Leu) c.37945G>C (p.Val12649Leu) c.37804G>C (p.Val12602Leu) c.63847G>C (p.Val21283Leu) c.59245G>C (p.Val19749Leu) c.59242G>C (p.Val19748Leu) c.56284G>C (p.Val18762Leu) c.37900G>C (p.Val12634Leu) c.59395G>C (p.Val19799Leu) c.59392G>C (p.Val19798Leu) c.58825G>C (p.Val19609Leu) c.56167G>C (p.Val18723Leu) c.56086G>C (p.Val18696Leu) c.37849G>C (p.Val12617Leu) c.27703G>C (p.Val9235Leu) | |
| 2 | g.178584687C>T | CA349436123 | TTN,TTN-AS1 | c.57250G>A (p.Val19084Ile) c.38335G>A (p.Val12779Ile) c.38134G>A (p.Val12712Ile) c.37759G>A (p.Val12587Ile) c.64954G>A (p.Val21652Ile) c.60031G>A (p.Val20011Ile) n.597-12909C>T n.2882C>T c.64051G>A (p.Val21351Ile) c.37945G>A (p.Val12649Ile) c.37804G>A (p.Val12602Ile) c.63847G>A (p.Val21283Ile) c.59245G>A (p.Val19749Ile) c.59242G>A (p.Val19748Ile) c.56284G>A (p.Val18762Ile) c.37900G>A (p.Val12634Ile) c.59395G>A (p.Val19799Ile) c.59392G>A (p.Val19798Ile) c.58825G>A (p.Val19609Ile) c.56167G>A (p.Val18723Ile) c.56086G>A (p.Val18696Ile) c.37849G>A (p.Val12617Ile) c.27703G>A (p.Val9235Ile) | |
| 2 | g.178584688C>A | CA349436126 | TTN,TTN-AS1 | c.57249G>T (p.Met19083Ile) c.38334G>T (p.Met12778Ile) c.38133G>T (p.Met12711Ile) c.37758G>T (p.Met12586Ile) c.64953G>T (p.Met21651Ile) c.60030G>T (p.Met20010Ile) n.597-12908C>A n.2883C>A c.64050G>T (p.Met21350Ile) c.37944G>T (p.Met12648Ile) c.37803G>T (p.Met12601Ile) c.63846G>T (p.Met21282Ile) c.59244G>T (p.Met19748Ile) c.59241G>T (p.Met19747Ile) c.56283G>T (p.Met18761Ile) c.37899G>T (p.Met12633Ile) c.59394G>T (p.Met19798Ile) c.59391G>T (p.Met19797Ile) c.58824G>T (p.Met19608Ile) c.56166G>T (p.Met18722Ile) c.56085G>T (p.Met18695Ile) c.37848G>T (p.Met12616Ile) c.27702G>T (p.Met9234Ile) | |
| 2 | g.178584688C= | CA1310537128 | TTN,TTN-AS1 | c.57249G= (p.Met19083=) c.38334G= (p.Met12778=) c.38133G= (p.Met12711=) c.37758G= (p.Met12586=) c.64953G= (p.Met21651=) c.60030G= (p.Met20010=) n.597-12908C= n.2883C= c.64050G= (p.Met21350=) c.37944G= (p.Met12648=) c.37803G= (p.Met12601=) c.63846G= (p.Met21282=) c.59244G= (p.Met19748=) c.59241G= (p.Met19747=) c.56283G= (p.Met18761=) c.37899G= (p.Met12633=) c.59394G= (p.Met19798=) c.59391G= (p.Met19797=) c.58824G= (p.Met19608=) c.56166G= (p.Met18722=) c.56085G= (p.Met18695=) c.37848G= (p.Met12616=) c.27702G= (p.Met9234=) | |
| 2 | g.178584688C>G | CA349436124 | TTN,TTN-AS1 | c.57249G>C (p.Met19083Ile) c.38334G>C (p.Met12778Ile) c.38133G>C (p.Met12711Ile) c.37758G>C (p.Met12586Ile) c.64953G>C (p.Met21651Ile) c.60030G>C (p.Met20010Ile) n.597-12908C>G n.2883C>G c.64050G>C (p.Met21350Ile) c.37944G>C (p.Met12648Ile) c.37803G>C (p.Met12601Ile) c.63846G>C (p.Met21282Ile) c.59244G>C (p.Met19748Ile) c.59241G>C (p.Met19747Ile) c.56283G>C (p.Met18761Ile) c.37899G>C (p.Met12633Ile) c.59394G>C (p.Met19798Ile) c.59391G>C (p.Met19797Ile) c.58824G>C (p.Met19608Ile) c.56166G>C (p.Met18722Ile) c.56085G>C (p.Met18695Ile) c.37848G>C (p.Met12616Ile) c.27702G>C (p.Met9234Ile) | |
| 2 | g.178584688C>T | CA60962125 | TTN,TTN-AS1 | c.57249G>A (p.Met19083Ile) c.38334G>A (p.Met12778Ile) c.38133G>A (p.Met12711Ile) c.37758G>A (p.Met12586Ile) c.64953G>A (p.Met21651Ile) c.60030G>A (p.Met20010Ile) n.597-12908C>T n.2883C>T c.64050G>A (p.Met21350Ile) c.37944G>A (p.Met12648Ile) c.37803G>A (p.Met12601Ile) c.63846G>A (p.Met21282Ile) c.59244G>A (p.Met19748Ile) c.59241G>A (p.Met19747Ile) c.56283G>A (p.Met18761Ile) c.37899G>A (p.Met12633Ile) c.59394G>A (p.Met19798Ile) c.59391G>A (p.Met19797Ile) c.58824G>A (p.Met19608Ile) c.56166G>A (p.Met18722Ile) c.56085G>A (p.Met18695Ile) c.37848G>A (p.Met12616Ile) c.27702G>A (p.Met9234Ile) | dbSNP |
| 2 | g.178584689A= | CA1310537129 | TTN,TTN-AS1 | c.57248T= (p.Met19083=) c.38333T= (p.Met12778=) c.38132T= (p.Met12711=) c.37757T= (p.Met12586=) c.64952T= (p.Met21651=) c.60029T= (p.Met20010=) n.597-12907A= n.2884A= c.64049T= (p.Met21350=) c.37943T= (p.Met12648=) c.37802T= (p.Met12601=) c.63845T= (p.Met21282=) c.59243T= (p.Met19748=) c.59240T= (p.Met19747=) c.56282T= (p.Met18761=) c.37898T= (p.Met12633=) c.59393T= (p.Met19798=) c.59390T= (p.Met19797=) c.58823T= (p.Met19608=) c.56165T= (p.Met18722=) c.56084T= (p.Met18695=) c.37847T= (p.Met12616=) c.27701T= (p.Met9234=) | |
| 2 | g.178584689A>C | CA349436133 | TTN,TTN-AS1 | c.57248T>G (p.Met19083Arg) c.38333T>G (p.Met12778Arg) c.38132T>G (p.Met12711Arg) c.37757T>G (p.Met12586Arg) c.64952T>G (p.Met21651Arg) c.60029T>G (p.Met20010Arg) n.597-12907A>C n.2884A>C c.64049T>G (p.Met21350Arg) c.37943T>G (p.Met12648Arg) c.37802T>G (p.Met12601Arg) c.63845T>G (p.Met21282Arg) c.59243T>G (p.Met19748Arg) c.59240T>G (p.Met19747Arg) c.56282T>G (p.Met18761Arg) c.37898T>G (p.Met12633Arg) c.59393T>G (p.Met19798Arg) c.59390T>G (p.Met19797Arg) c.58823T>G (p.Met19608Arg) c.56165T>G (p.Met18722Arg) c.56084T>G (p.Met18695Arg) c.37847T>G (p.Met12616Arg) c.27701T>G (p.Met9234Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178584689A>G | CA349436129 | TTN,TTN-AS1 | c.57248T>C (p.Met19083Thr) c.38333T>C (p.Met12778Thr) c.38132T>C (p.Met12711Thr) c.37757T>C (p.Met12586Thr) c.64952T>C (p.Met21651Thr) c.60029T>C (p.Met20010Thr) n.597-12907A>G n.2884A>G c.64049T>C (p.Met21350Thr) c.37943T>C (p.Met12648Thr) c.37802T>C (p.Met12601Thr) c.63845T>C (p.Met21282Thr) c.59243T>C (p.Met19748Thr) c.59240T>C (p.Met19747Thr) c.56282T>C (p.Met18761Thr) c.37898T>C (p.Met12633Thr) c.59393T>C (p.Met19798Thr) c.59390T>C (p.Met19797Thr) c.58823T>C (p.Met19608Thr) c.56165T>C (p.Met18722Thr) c.56084T>C (p.Met18695Thr) c.37847T>C (p.Met12616Thr) c.27701T>C (p.Met9234Thr) | dbSNP gnomAD v4 |
| 2 | g.178584689A>T | CA349436131 | TTN,TTN-AS1 | c.57248T>A (p.Met19083Lys) c.38333T>A (p.Met12778Lys) c.38132T>A (p.Met12711Lys) c.37757T>A (p.Met12586Lys) c.64952T>A (p.Met21651Lys) c.60029T>A (p.Met20010Lys) n.597-12907A>T n.2884A>T c.64049T>A (p.Met21350Lys) c.37943T>A (p.Met12648Lys) c.37802T>A (p.Met12601Lys) c.63845T>A (p.Met21282Lys) c.59243T>A (p.Met19748Lys) c.59240T>A (p.Met19747Lys) c.56282T>A (p.Met18761Lys) c.37898T>A (p.Met12633Lys) c.59393T>A (p.Met19798Lys) c.59390T>A (p.Met19797Lys) c.58823T>A (p.Met19608Lys) c.56165T>A (p.Met18722Lys) c.56084T>A (p.Met18695Lys) c.37847T>A (p.Met12616Lys) c.27701T>A (p.Met9234Lys) | |
| 2 | g.178584690T>A | CA349436135 | TTN,TTN-AS1 | c.57247A>T (p.Met19083Leu) c.38332A>T (p.Met12778Leu) c.38131A>T (p.Met12711Leu) c.37756A>T (p.Met12586Leu) c.64951A>T (p.Met21651Leu) c.60028A>T (p.Met20010Leu) n.597-12906T>A n.2885T>A c.64048A>T (p.Met21350Leu) c.37942A>T (p.Met12648Leu) c.37801A>T (p.Met12601Leu) c.63844A>T (p.Met21282Leu) c.59242A>T (p.Met19748Leu) c.59239A>T (p.Met19747Leu) c.56281A>T (p.Met18761Leu) c.37897A>T (p.Met12633Leu) c.59392A>T (p.Met19798Leu) c.59389A>T (p.Met19797Leu) c.58822A>T (p.Met19608Leu) c.56164A>T (p.Met18722Leu) c.56083A>T (p.Met18695Leu) c.37846A>T (p.Met12616Leu) c.27700A>T (p.Met9234Leu) | |
| 2 | g.178584690T>C | CA349436137 | TTN,TTN-AS1 | c.57247A>G (p.Met19083Val) c.38332A>G (p.Met12778Val) c.38131A>G (p.Met12711Val) c.37756A>G (p.Met12586Val) c.64951A>G (p.Met21651Val) c.60028A>G (p.Met20010Val) n.597-12906T>C n.2885T>C c.64048A>G (p.Met21350Val) c.37942A>G (p.Met12648Val) c.37801A>G (p.Met12601Val) c.63844A>G (p.Met21282Val) c.59242A>G (p.Met19748Val) c.59239A>G (p.Met19747Val) c.56281A>G (p.Met18761Val) c.37897A>G (p.Met12633Val) c.59392A>G (p.Met19798Val) c.59389A>G (p.Met19797Val) c.58822A>G (p.Met19608Val) c.56164A>G (p.Met18722Val) c.56083A>G (p.Met18695Val) c.37846A>G (p.Met12616Val) c.27700A>G (p.Met9234Val) | |
| 2 | g.178584690T>G | CA349436138 | TTN,TTN-AS1 | c.57247A>C (p.Met19083Leu) c.38332A>C (p.Met12778Leu) c.38131A>C (p.Met12711Leu) c.37756A>C (p.Met12586Leu) c.64951A>C (p.Met21651Leu) c.60028A>C (p.Met20010Leu) n.597-12906T>G n.2885T>G c.64048A>C (p.Met21350Leu) c.37942A>C (p.Met12648Leu) c.37801A>C (p.Met12601Leu) c.63844A>C (p.Met21282Leu) c.59242A>C (p.Met19748Leu) c.59239A>C (p.Met19747Leu) c.56281A>C (p.Met18761Leu) c.37897A>C (p.Met12633Leu) c.59392A>C (p.Met19798Leu) c.59389A>C (p.Met19797Leu) c.58822A>C (p.Met19608Leu) c.56164A>C (p.Met18722Leu) c.56083A>C (p.Met18695Leu) c.37846A>C (p.Met12616Leu) c.27700A>C (p.Met9234Leu) | |
| 2 | g.178584690dup | CA916720208 | TTN,TTN-AS1 | c.57247dup (p.Met19083AsnfsTer11) c.38332dup (p.Met12778AsnfsTer11) c.38131dup (p.Met12711AsnfsTer11) c.37756dup (p.Met12586AsnfsTer11) c.64951dup (p.Met21651AsnfsTer11) c.60028dup (p.Met20010AsnfsTer11) n.597-12906dup n.2885dup c.64048dup (p.Met21350AsnfsTer11) c.37942dup (p.Met12648AsnfsTer11) c.37801dup (p.Met12601AsnfsTer11) c.63844dup (p.Met21282AsnfsTer11) c.59242dup (p.Met19748AsnfsTer11) c.59239dup (p.Met19747AsnfsTer11) c.56281dup (p.Met18761AsnfsTer11) c.37897dup (p.Met12633AsnfsTer11) c.59392dup (p.Met19798AsnfsTer11) c.59389dup (p.Met19797AsnfsTer11) c.58822dup (p.Met19608AsnfsTer11) c.56164dup (p.Met18722AsnfsTer11) c.56083dup (p.Met18695AsnfsTer11) c.37846dup (p.Met12616AsnfsTer11) c.27700dup (p.Met9234AsnfsTer11) | dbSNP gnomAD v4 |
| 2 | g.178584691C>A | CA349436139 | TTN,TTN-AS1 | c.57246G>T (p.Lys19082Asn) c.38331G>T (p.Lys12777Asn) c.38130G>T (p.Lys12710Asn) c.37755G>T (p.Lys12585Asn) c.64950G>T (p.Lys21650Asn) c.60027G>T (p.Lys20009Asn) n.597-12905C>A n.2886C>A c.64047G>T (p.Lys21349Asn) c.37941G>T (p.Lys12647Asn) c.37800G>T (p.Lys12600Asn) c.63843G>T (p.Lys21281Asn) c.59241G>T (p.Lys19747Asn) c.59238G>T (p.Lys19746Asn) c.56280G>T (p.Lys18760Asn) c.37896G>T (p.Lys12632Asn) c.59391G>T (p.Lys19797Asn) c.59388G>T (p.Lys19796Asn) c.58821G>T (p.Lys19607Asn) c.56163G>T (p.Lys18721Asn) c.56082G>T (p.Lys18694Asn) c.37845G>T (p.Lys12615Asn) c.27699G>T (p.Lys9233Asn) | |
| 2 | g.178584691C>G | CA349436140 | TTN,TTN-AS1 | c.57246G>C (p.Lys19082Asn) c.38331G>C (p.Lys12777Asn) c.38130G>C (p.Lys12710Asn) c.37755G>C (p.Lys12585Asn) c.64950G>C (p.Lys21650Asn) c.60027G>C (p.Lys20009Asn) n.597-12905C>G n.2886C>G c.64047G>C (p.Lys21349Asn) c.37941G>C (p.Lys12647Asn) c.37800G>C (p.Lys12600Asn) c.63843G>C (p.Lys21281Asn) c.59241G>C (p.Lys19747Asn) c.59238G>C (p.Lys19746Asn) c.56280G>C (p.Lys18760Asn) c.37896G>C (p.Lys12632Asn) c.59391G>C (p.Lys19797Asn) c.59388G>C (p.Lys19796Asn) c.58821G>C (p.Lys19607Asn) c.56163G>C (p.Lys18721Asn) c.56082G>C (p.Lys18694Asn) c.37845G>C (p.Lys12615Asn) c.27699G>C (p.Lys9233Asn) | |
| 2 | g.178584691C>T | CA430264093 | TTN,TTN-AS1 | c.57246G>A (p.Lys19082=) c.38331G>A (p.Lys12777=) c.38130G>A (p.Lys12710=) c.37755G>A (p.Lys12585=) c.64950G>A (p.Lys21650=) c.60027G>A (p.Lys20009=) n.597-12905C>T n.2886C>T c.64047G>A (p.Lys21349=) c.37941G>A (p.Lys12647=) c.37800G>A (p.Lys12600=) c.63843G>A (p.Lys21281=) c.59241G>A (p.Lys19747=) c.59238G>A (p.Lys19746=) c.56280G>A (p.Lys18760=) c.37896G>A (p.Lys12632=) c.59391G>A (p.Lys19797=) c.59388G>A (p.Lys19796=) c.58821G>A (p.Lys19607=) c.56163G>A (p.Lys18721=) c.56082G>A (p.Lys18694=) c.37845G>A (p.Lys12615=) c.27699G>A (p.Lys9233=) |