Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178584674G>A | CA349436060 | TTN,TTN-AS1 | c.57263C>T (p.Pro19088Leu) c.38348C>T (p.Pro12783Leu) c.38147C>T (p.Pro12716Leu) c.37772C>T (p.Pro12591Leu) c.64967C>T (p.Pro21656Leu) c.60044C>T (p.Pro20015Leu) n.597-12922G>A n.2869G>A c.64064C>T (p.Pro21355Leu) c.37958C>T (p.Pro12653Leu) c.37817C>T (p.Pro12606Leu) c.63860C>T (p.Pro21287Leu) c.59258C>T (p.Pro19753Leu) c.59255C>T (p.Pro19752Leu) c.56297C>T (p.Pro18766Leu) c.37913C>T (p.Pro12638Leu) c.59408C>T (p.Pro19803Leu) c.59405C>T (p.Pro19802Leu) c.58838C>T (p.Pro19613Leu) c.56180C>T (p.Pro18727Leu) c.56099C>T (p.Pro18700Leu) c.37862C>T (p.Pro12621Leu) c.27716C>T (p.Pro9239Leu) | |
2 | g.178584674G>C | CA349436059 | TTN,TTN-AS1 | c.57263C>G (p.Pro19088Arg) c.38348C>G (p.Pro12783Arg) c.38147C>G (p.Pro12716Arg) c.37772C>G (p.Pro12591Arg) c.64967C>G (p.Pro21656Arg) c.60044C>G (p.Pro20015Arg) n.597-12922G>C n.2869G>C c.64064C>G (p.Pro21355Arg) c.37958C>G (p.Pro12653Arg) c.37817C>G (p.Pro12606Arg) c.63860C>G (p.Pro21287Arg) c.59258C>G (p.Pro19753Arg) c.59255C>G (p.Pro19752Arg) c.56297C>G (p.Pro18766Arg) c.37913C>G (p.Pro12638Arg) c.59408C>G (p.Pro19803Arg) c.59405C>G (p.Pro19802Arg) c.58838C>G (p.Pro19613Arg) c.56180C>G (p.Pro18727Arg) c.56099C>G (p.Pro18700Arg) c.37862C>G (p.Pro12621Arg) c.27716C>G (p.Pro9239Arg) | |
2 | g.178584674G>T | CA349436062 | TTN,TTN-AS1 | c.57263C>A (p.Pro19088Gln) c.38348C>A (p.Pro12783Gln) c.38147C>A (p.Pro12716Gln) c.37772C>A (p.Pro12591Gln) c.64967C>A (p.Pro21656Gln) c.60044C>A (p.Pro20015Gln) n.597-12922G>T n.2869G>T c.64064C>A (p.Pro21355Gln) c.37958C>A (p.Pro12653Gln) c.37817C>A (p.Pro12606Gln) c.63860C>A (p.Pro21287Gln) c.59258C>A (p.Pro19753Gln) c.59255C>A (p.Pro19752Gln) c.56297C>A (p.Pro18766Gln) c.37913C>A (p.Pro12638Gln) c.59408C>A (p.Pro19803Gln) c.59405C>A (p.Pro19802Gln) c.58838C>A (p.Pro19613Gln) c.56180C>A (p.Pro18727Gln) c.56099C>A (p.Pro18700Gln) c.37862C>A (p.Pro12621Gln) c.27716C>A (p.Pro9239Gln) | |
2 | g.178584675G>A | CA349436063 | TTN,TTN-AS1 | c.57262C>T (p.Pro19088Ser) c.38347C>T (p.Pro12783Ser) c.38146C>T (p.Pro12716Ser) c.37771C>T (p.Pro12591Ser) c.64966C>T (p.Pro21656Ser) c.60043C>T (p.Pro20015Ser) n.597-12921G>A n.2870G>A c.64063C>T (p.Pro21355Ser) c.37957C>T (p.Pro12653Ser) c.37816C>T (p.Pro12606Ser) c.63859C>T (p.Pro21287Ser) c.59257C>T (p.Pro19753Ser) c.59254C>T (p.Pro19752Ser) c.56296C>T (p.Pro18766Ser) c.37912C>T (p.Pro12638Ser) c.59407C>T (p.Pro19803Ser) c.59404C>T (p.Pro19802Ser) c.58837C>T (p.Pro19613Ser) c.56179C>T (p.Pro18727Ser) c.56098C>T (p.Pro18700Ser) c.37861C>T (p.Pro12621Ser) c.27715C>T (p.Pro9239Ser) | |
2 | g.178584675G>C | CA349436065 | TTN,TTN-AS1 | c.57262C>G (p.Pro19088Ala) c.38347C>G (p.Pro12783Ala) c.38146C>G (p.Pro12716Ala) c.37771C>G (p.Pro12591Ala) c.64966C>G (p.Pro21656Ala) c.60043C>G (p.Pro20015Ala) n.597-12921G>C n.2870G>C c.64063C>G (p.Pro21355Ala) c.37957C>G (p.Pro12653Ala) c.37816C>G (p.Pro12606Ala) c.63859C>G (p.Pro21287Ala) c.59257C>G (p.Pro19753Ala) c.59254C>G (p.Pro19752Ala) c.56296C>G (p.Pro18766Ala) c.37912C>G (p.Pro12638Ala) c.59407C>G (p.Pro19803Ala) c.59404C>G (p.Pro19802Ala) c.58837C>G (p.Pro19613Ala) c.56179C>G (p.Pro18727Ala) c.56098C>G (p.Pro18700Ala) c.37861C>G (p.Pro12621Ala) c.27715C>G (p.Pro9239Ala) | |
2 | g.178584675G>T | CA349436064 | TTN,TTN-AS1 | c.57262C>A (p.Pro19088Thr) c.38347C>A (p.Pro12783Thr) c.38146C>A (p.Pro12716Thr) c.37771C>A (p.Pro12591Thr) c.64966C>A (p.Pro21656Thr) c.60043C>A (p.Pro20015Thr) n.597-12921G>T n.2870G>T c.64063C>A (p.Pro21355Thr) c.37957C>A (p.Pro12653Thr) c.37816C>A (p.Pro12606Thr) c.63859C>A (p.Pro21287Thr) c.59257C>A (p.Pro19753Thr) c.59254C>A (p.Pro19752Thr) c.56296C>A (p.Pro18766Thr) c.37912C>A (p.Pro12638Thr) c.59407C>A (p.Pro19803Thr) c.59404C>A (p.Pro19802Thr) c.58837C>A (p.Pro19613Thr) c.56179C>A (p.Pro18727Thr) c.56098C>A (p.Pro18700Thr) c.37861C>A (p.Pro12621Thr) c.27715C>A (p.Pro9239Thr) | |
2 | g.178584676G>A | CA430264052 | TTN,TTN-AS1 | c.57261C>T (p.Phe19087=) c.38346C>T (p.Phe12782=) c.38145C>T (p.Phe12715=) c.37770C>T (p.Phe12590=) c.64965C>T (p.Phe21655=) c.60042C>T (p.Phe20014=) n.597-12920G>A n.2871G>A c.64062C>T (p.Phe21354=) c.37956C>T (p.Phe12652=) c.37815C>T (p.Phe12605=) c.63858C>T (p.Phe21286=) c.59256C>T (p.Phe19752=) c.59253C>T (p.Phe19751=) c.56295C>T (p.Phe18765=) c.37911C>T (p.Phe12637=) c.59406C>T (p.Phe19802=) c.59403C>T (p.Phe19801=) c.58836C>T (p.Phe19612=) c.56178C>T (p.Phe18726=) c.56097C>T (p.Phe18699=) c.37860C>T (p.Phe12620=) c.27714C>T (p.Phe9238=) | |
2 | g.178584676G>C | CA10611629 | TTN,TTN-AS1 | c.57261C>G (p.Phe19087Leu) c.38346C>G (p.Phe12782Leu) c.38145C>G (p.Phe12715Leu) c.37770C>G (p.Phe12590Leu) c.64965C>G (p.Phe21655Leu) c.60042C>G (p.Phe20014Leu) n.597-12920G>C n.2871G>C c.64062C>G (p.Phe21354Leu) c.37956C>G (p.Phe12652Leu) c.37815C>G (p.Phe12605Leu) c.63858C>G (p.Phe21286Leu) c.59256C>G (p.Phe19752Leu) c.59253C>G (p.Phe19751Leu) c.56295C>G (p.Phe18765Leu) c.37911C>G (p.Phe12637Leu) c.59406C>G (p.Phe19802Leu) c.59403C>G (p.Phe19801Leu) c.58836C>G (p.Phe19612Leu) c.56178C>G (p.Phe18726Leu) c.56097C>G (p.Phe18699Leu) c.37860C>G (p.Phe12620Leu) c.27714C>G (p.Phe9238Leu) | ClinVar dbSNP |
2 | g.178584676G= | CA1310537122 | TTN,TTN-AS1 | c.57261C= (p.Phe19087=) c.38346C= (p.Phe12782=) c.38145C= (p.Phe12715=) c.37770C= (p.Phe12590=) c.64965C= (p.Phe21655=) c.60042C= (p.Phe20014=) n.597-12920G= n.2871G= c.64062C= (p.Phe21354=) c.37956C= (p.Phe12652=) c.37815C= (p.Phe12605=) c.63858C= (p.Phe21286=) c.59256C= (p.Phe19752=) c.59253C= (p.Phe19751=) c.56295C= (p.Phe18765=) c.37911C= (p.Phe12637=) c.59406C= (p.Phe19802=) c.59403C= (p.Phe19801=) c.58836C= (p.Phe19612=) c.56178C= (p.Phe18726=) c.56097C= (p.Phe18699=) c.37860C= (p.Phe12620=) c.27714C= (p.Phe9238=) | |
2 | g.178584676G>T | CA349436068 | TTN,TTN-AS1 | c.57261C>A (p.Phe19087Leu) c.38346C>A (p.Phe12782Leu) c.38145C>A (p.Phe12715Leu) c.37770C>A (p.Phe12590Leu) c.64965C>A (p.Phe21655Leu) c.60042C>A (p.Phe20014Leu) n.597-12920G>T n.2871G>T c.64062C>A (p.Phe21354Leu) c.37956C>A (p.Phe12652Leu) c.37815C>A (p.Phe12605Leu) c.63858C>A (p.Phe21286Leu) c.59256C>A (p.Phe19752Leu) c.59253C>A (p.Phe19751Leu) c.56295C>A (p.Phe18765Leu) c.37911C>A (p.Phe12637Leu) c.59406C>A (p.Phe19802Leu) c.59403C>A (p.Phe19801Leu) c.58836C>A (p.Phe19612Leu) c.56178C>A (p.Phe18726Leu) c.56097C>A (p.Phe18699Leu) c.37860C>A (p.Phe12620Leu) c.27714C>A (p.Phe9238Leu) | |
2 | g.178584677A>C | CA349436071 | TTN,TTN-AS1 | c.57260T>G (p.Phe19087Cys) c.38345T>G (p.Phe12782Cys) c.38144T>G (p.Phe12715Cys) c.37769T>G (p.Phe12590Cys) c.64964T>G (p.Phe21655Cys) c.60041T>G (p.Phe20014Cys) n.597-12919A>C n.2872A>C c.64061T>G (p.Phe21354Cys) c.37955T>G (p.Phe12652Cys) c.37814T>G (p.Phe12605Cys) c.63857T>G (p.Phe21286Cys) c.59255T>G (p.Phe19752Cys) c.59252T>G (p.Phe19751Cys) c.56294T>G (p.Phe18765Cys) c.37910T>G (p.Phe12637Cys) c.59405T>G (p.Phe19802Cys) c.59402T>G (p.Phe19801Cys) c.58835T>G (p.Phe19612Cys) c.56177T>G (p.Phe18726Cys) c.56096T>G (p.Phe18699Cys) c.37859T>G (p.Phe12620Cys) c.27713T>G (p.Phe9238Cys) | |
2 | g.178584677A>G | CA349436073 | TTN,TTN-AS1 | c.57260T>C (p.Phe19087Ser) c.38345T>C (p.Phe12782Ser) c.38144T>C (p.Phe12715Ser) c.37769T>C (p.Phe12590Ser) c.64964T>C (p.Phe21655Ser) c.60041T>C (p.Phe20014Ser) n.597-12919A>G n.2872A>G c.64061T>C (p.Phe21354Ser) c.37955T>C (p.Phe12652Ser) c.37814T>C (p.Phe12605Ser) c.63857T>C (p.Phe21286Ser) c.59255T>C (p.Phe19752Ser) c.59252T>C (p.Phe19751Ser) c.56294T>C (p.Phe18765Ser) c.37910T>C (p.Phe12637Ser) c.59405T>C (p.Phe19802Ser) c.59402T>C (p.Phe19801Ser) c.58835T>C (p.Phe19612Ser) c.56177T>C (p.Phe18726Ser) c.56096T>C (p.Phe18699Ser) c.37859T>C (p.Phe12620Ser) c.27713T>C (p.Phe9238Ser) | |
2 | g.178584677A>T | CA349436074 | TTN,TTN-AS1 | c.57260T>A (p.Phe19087Tyr) c.38345T>A (p.Phe12782Tyr) c.38144T>A (p.Phe12715Tyr) c.37769T>A (p.Phe12590Tyr) c.64964T>A (p.Phe21655Tyr) c.60041T>A (p.Phe20014Tyr) n.597-12919A>T n.2872A>T c.64061T>A (p.Phe21354Tyr) c.37955T>A (p.Phe12652Tyr) c.37814T>A (p.Phe12605Tyr) c.63857T>A (p.Phe21286Tyr) c.59255T>A (p.Phe19752Tyr) c.59252T>A (p.Phe19751Tyr) c.56294T>A (p.Phe18765Tyr) c.37910T>A (p.Phe12637Tyr) c.59405T>A (p.Phe19802Tyr) c.59402T>A (p.Phe19801Tyr) c.58835T>A (p.Phe19612Tyr) c.56177T>A (p.Phe18726Tyr) c.56096T>A (p.Phe18699Tyr) c.37859T>A (p.Phe12620Tyr) c.27713T>A (p.Phe9238Tyr) | gnomAD v4 |
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=) |