Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178614731A= | CA1310549488 | TTN,TTN-AS1 | c.41079T= (p.Asp13693=) c.22164T= (p.Asp7388=) c.21963T= (p.Asp7321=) c.21588T= (p.Asp7196=) c.48783T= (p.Asp16261=) c.43860T= (p.Asp14620=) n.1479A= c.47880T= (p.Asp15960=) c.21774T= (p.Asp7258=) c.21633T= (p.Asp7211=) c.47676T= (p.Asp15892=) c.43074T= (p.Asp14358=) c.43071T= (p.Asp14357=) c.40113T= (p.Asp13371=) c.21729T= (p.Asp7243=) c.43224T= (p.Asp14408=) c.43221T= (p.Asp14407=) c.42654T= (p.Asp14218=) c.39996T= (p.Asp13332=) c.39915T= (p.Asp13305=) c.21678T= (p.Asp7226=) c.11532T= (p.Asp3844=) | |
2 | g.178614731A>C | CA349607994 | TTN,TTN-AS1 | c.41079T>G (p.Asp13693Glu) c.22164T>G (p.Asp7388Glu) c.21963T>G (p.Asp7321Glu) c.21588T>G (p.Asp7196Glu) c.48783T>G (p.Asp16261Glu) c.43860T>G (p.Asp14620Glu) n.1479A>C c.47880T>G (p.Asp15960Glu) c.21774T>G (p.Asp7258Glu) c.21633T>G (p.Asp7211Glu) c.47676T>G (p.Asp15892Glu) c.43074T>G (p.Asp14358Glu) c.43071T>G (p.Asp14357Glu) c.40113T>G (p.Asp13371Glu) c.21729T>G (p.Asp7243Glu) c.43224T>G (p.Asp14408Glu) c.43221T>G (p.Asp14407Glu) c.42654T>G (p.Asp14218Glu) c.39996T>G (p.Asp13332Glu) c.39915T>G (p.Asp13305Glu) c.21678T>G (p.Asp7226Glu) c.11532T>G (p.Asp3844Glu) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178614731A>G | CA1994742 | TTN,TTN-AS1 | c.41079T>C (p.Asp13693=) c.22164T>C (p.Asp7388=) c.21963T>C (p.Asp7321=) c.21588T>C (p.Asp7196=) c.48783T>C (p.Asp16261=) c.43860T>C (p.Asp14620=) n.1479A>G c.47880T>C (p.Asp15960=) c.21774T>C (p.Asp7258=) c.21633T>C (p.Asp7211=) c.47676T>C (p.Asp15892=) c.43074T>C (p.Asp14358=) c.43071T>C (p.Asp14357=) c.40113T>C (p.Asp13371=) c.21729T>C (p.Asp7243=) c.43224T>C (p.Asp14408=) c.43221T>C (p.Asp14407=) c.42654T>C (p.Asp14218=) c.39996T>C (p.Asp13332=) c.39915T>C (p.Asp13305=) c.21678T>C (p.Asp7226=) c.11532T>C (p.Asp3844=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178614731A>T | CA349607997 | TTN,TTN-AS1 | c.41079T>A (p.Asp13693Glu) c.22164T>A (p.Asp7388Glu) c.21963T>A (p.Asp7321Glu) c.21588T>A (p.Asp7196Glu) c.48783T>A (p.Asp16261Glu) c.43860T>A (p.Asp14620Glu) n.1479A>T c.47880T>A (p.Asp15960Glu) c.21774T>A (p.Asp7258Glu) c.21633T>A (p.Asp7211Glu) c.47676T>A (p.Asp15892Glu) c.43074T>A (p.Asp14358Glu) c.43071T>A (p.Asp14357Glu) c.40113T>A (p.Asp13371Glu) c.21729T>A (p.Asp7243Glu) c.43224T>A (p.Asp14408Glu) c.43221T>A (p.Asp14407Glu) c.42654T>A (p.Asp14218Glu) c.39996T>A (p.Asp13332Glu) c.39915T>A (p.Asp13305Glu) c.21678T>A (p.Asp7226Glu) c.11532T>A (p.Asp3844Glu) | |
2 | g.178614732T>A | CA349607999 | TTN,TTN-AS1 | c.41078A>T (p.Asp13693Val) c.22163A>T (p.Asp7388Val) c.21962A>T (p.Asp7321Val) c.21587A>T (p.Asp7196Val) c.48782A>T (p.Asp16261Val) c.43859A>T (p.Asp14620Val) n.1480T>A c.47879A>T (p.Asp15960Val) c.21773A>T (p.Asp7258Val) c.21632A>T (p.Asp7211Val) c.47675A>T (p.Asp15892Val) c.43073A>T (p.Asp14358Val) c.43070A>T (p.Asp14357Val) c.40112A>T (p.Asp13371Val) c.21728A>T (p.Asp7243Val) c.43223A>T (p.Asp14408Val) c.43220A>T (p.Asp14407Val) c.42653A>T (p.Asp14218Val) c.39995A>T (p.Asp13332Val) c.39914A>T (p.Asp13305Val) c.21677A>T (p.Asp7226Val) c.11531A>T (p.Asp3844Val) | |
2 | g.178614732T>C | CA349608001 | TTN,TTN-AS1 | c.41078A>G (p.Asp13693Gly) c.22163A>G (p.Asp7388Gly) c.21962A>G (p.Asp7321Gly) c.21587A>G (p.Asp7196Gly) c.48782A>G (p.Asp16261Gly) c.43859A>G (p.Asp14620Gly) n.1480T>C c.47879A>G (p.Asp15960Gly) c.21773A>G (p.Asp7258Gly) c.21632A>G (p.Asp7211Gly) c.47675A>G (p.Asp15892Gly) c.43073A>G (p.Asp14358Gly) c.43070A>G (p.Asp14357Gly) c.40112A>G (p.Asp13371Gly) c.21728A>G (p.Asp7243Gly) c.43223A>G (p.Asp14408Gly) c.43220A>G (p.Asp14407Gly) c.42653A>G (p.Asp14218Gly) c.39995A>G (p.Asp13332Gly) c.39914A>G (p.Asp13305Gly) c.21677A>G (p.Asp7226Gly) c.11531A>G (p.Asp3844Gly) | |
2 | g.178614732T>G | CA349608003 | TTN,TTN-AS1 | c.41078A>C (p.Asp13693Ala) c.22163A>C (p.Asp7388Ala) c.21962A>C (p.Asp7321Ala) c.21587A>C (p.Asp7196Ala) c.48782A>C (p.Asp16261Ala) c.43859A>C (p.Asp14620Ala) n.1480T>G c.47879A>C (p.Asp15960Ala) c.21773A>C (p.Asp7258Ala) c.21632A>C (p.Asp7211Ala) c.47675A>C (p.Asp15892Ala) c.43073A>C (p.Asp14358Ala) c.43070A>C (p.Asp14357Ala) c.40112A>C (p.Asp13371Ala) c.21728A>C (p.Asp7243Ala) c.43223A>C (p.Asp14408Ala) c.43220A>C (p.Asp14407Ala) c.42653A>C (p.Asp14218Ala) c.39995A>C (p.Asp13332Ala) c.39914A>C (p.Asp13305Ala) c.21677A>C (p.Asp7226Ala) c.11531A>C (p.Asp3844Ala) | |
2 | g.178614733C>A | CA349608005 | TTN,TTN-AS1 | c.41077G>T (p.Asp13693Tyr) c.22162G>T (p.Asp7388Tyr) c.21961G>T (p.Asp7321Tyr) c.21586G>T (p.Asp7196Tyr) c.48781G>T (p.Asp16261Tyr) c.43858G>T (p.Asp14620Tyr) n.1481C>A c.47878G>T (p.Asp15960Tyr) c.21772G>T (p.Asp7258Tyr) c.21631G>T (p.Asp7211Tyr) c.47674G>T (p.Asp15892Tyr) c.43072G>T (p.Asp14358Tyr) c.43069G>T (p.Asp14357Tyr) c.40111G>T (p.Asp13371Tyr) c.21727G>T (p.Asp7243Tyr) c.43222G>T (p.Asp14408Tyr) c.43219G>T (p.Asp14407Tyr) c.42652G>T (p.Asp14218Tyr) c.39994G>T (p.Asp13332Tyr) c.39913G>T (p.Asp13305Tyr) c.21676G>T (p.Asp7226Tyr) c.11530G>T (p.Asp3844Tyr) | |
2 | g.178614733C= | CA1310549489 | TTN,TTN-AS1 | c.41077G= (p.Asp13693=) c.22162G= (p.Asp7388=) c.21961G= (p.Asp7321=) c.21586G= (p.Asp7196=) c.48781G= (p.Asp16261=) c.43858G= (p.Asp14620=) n.1481C= c.47878G= (p.Asp15960=) c.21772G= (p.Asp7258=) c.21631G= (p.Asp7211=) c.47674G= (p.Asp15892=) c.43072G= (p.Asp14358=) c.43069G= (p.Asp14357=) c.40111G= (p.Asp13371=) c.21727G= (p.Asp7243=) c.43222G= (p.Asp14408=) c.43219G= (p.Asp14407=) c.42652G= (p.Asp14218=) c.39994G= (p.Asp13332=) c.39913G= (p.Asp13305=) c.21676G= (p.Asp7226=) c.11530G= (p.Asp3844=) | |
2 | g.178614733C>G | CA349608007 | TTN,TTN-AS1 | c.41077G>C (p.Asp13693His) c.22162G>C (p.Asp7388His) c.21961G>C (p.Asp7321His) c.21586G>C (p.Asp7196His) c.48781G>C (p.Asp16261His) c.43858G>C (p.Asp14620His) n.1481C>G c.47878G>C (p.Asp15960His) c.21772G>C (p.Asp7258His) c.21631G>C (p.Asp7211His) c.47674G>C (p.Asp15892His) c.43072G>C (p.Asp14358His) c.43069G>C (p.Asp14357His) c.40111G>C (p.Asp13371His) c.21727G>C (p.Asp7243His) c.43222G>C (p.Asp14408His) c.43219G>C (p.Asp14407His) c.42652G>C (p.Asp14218His) c.39994G>C (p.Asp13332His) c.39913G>C (p.Asp13305His) c.21676G>C (p.Asp7226His) c.11530G>C (p.Asp3844His) | |
2 | g.178614733C>T | CA1994743 | TTN,TTN-AS1 | c.41077G>A (p.Asp13693Asn) c.22162G>A (p.Asp7388Asn) c.21961G>A (p.Asp7321Asn) c.21586G>A (p.Asp7196Asn) c.48781G>A (p.Asp16261Asn) c.43858G>A (p.Asp14620Asn) n.1481C>T c.47878G>A (p.Asp15960Asn) c.21772G>A (p.Asp7258Asn) c.21631G>A (p.Asp7211Asn) c.47674G>A (p.Asp15892Asn) c.43072G>A (p.Asp14358Asn) c.43069G>A (p.Asp14357Asn) c.40111G>A (p.Asp13371Asn) c.21727G>A (p.Asp7243Asn) c.43222G>A (p.Asp14408Asn) c.43219G>A (p.Asp14407Asn) c.42652G>A (p.Asp14218Asn) c.39994G>A (p.Asp13332Asn) c.39913G>A (p.Asp13305Asn) c.21676G>A (p.Asp7226Asn) c.11530G>A (p.Asp3844Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178614734G>A | CA430104083 | TTN,TTN-AS1 | c.41076C>T (p.Leu13692=) c.22161C>T (p.Leu7387=) c.21960C>T (p.Leu7320=) c.21585C>T (p.Leu7195=) c.48780C>T (p.Leu16260=) c.43857C>T (p.Leu14619=) n.1482G>A c.47877C>T (p.Leu15959=) c.21771C>T (p.Leu7257=) c.21630C>T (p.Leu7210=) c.47673C>T (p.Leu15891=) c.43071C>T (p.Leu14357=) c.43068C>T (p.Leu14356=) c.40110C>T (p.Leu13370=) c.21726C>T (p.Leu7242=) c.43221C>T (p.Leu14407=) c.43218C>T (p.Leu14406=) c.42651C>T (p.Leu14217=) c.39993C>T (p.Leu13331=) c.39912C>T (p.Leu13304=) c.21675C>T (p.Leu7225=) c.11529C>T (p.Leu3843=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178614734G>C | CA1994744 | TTN,TTN-AS1 | c.41076C>G (p.Leu13692=) c.22161C>G (p.Leu7387=) c.21960C>G (p.Leu7320=) c.21585C>G (p.Leu7195=) c.48780C>G (p.Leu16260=) c.43857C>G (p.Leu14619=) n.1482G>C c.47877C>G (p.Leu15959=) c.21771C>G (p.Leu7257=) c.21630C>G (p.Leu7210=) c.47673C>G (p.Leu15891=) c.43071C>G (p.Leu14357=) c.43068C>G (p.Leu14356=) c.40110C>G (p.Leu13370=) c.21726C>G (p.Leu7242=) c.43221C>G (p.Leu14407=) c.43218C>G (p.Leu14406=) c.42651C>G (p.Leu14217=) c.39993C>G (p.Leu13331=) c.39912C>G (p.Leu13304=) c.21675C>G (p.Leu7225=) c.11529C>G (p.Leu3843=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178614734G= | CA1310549490 | TTN,TTN-AS1 | c.41076C= (p.Leu13692=) c.22161C= (p.Leu7387=) c.21960C= (p.Leu7320=) c.21585C= (p.Leu7195=) c.48780C= (p.Leu16260=) c.43857C= (p.Leu14619=) n.1482G= c.47877C= (p.Leu15959=) c.21771C= (p.Leu7257=) c.21630C= (p.Leu7210=) c.47673C= (p.Leu15891=) c.43071C= (p.Leu14357=) c.43068C= (p.Leu14356=) c.40110C= (p.Leu13370=) c.21726C= (p.Leu7242=) c.43221C= (p.Leu14407=) c.43218C= (p.Leu14406=) c.42651C= (p.Leu14217=) c.39993C= (p.Leu13331=) c.39912C= (p.Leu13304=) c.21675C= (p.Leu7225=) c.11529C= (p.Leu3843=) | |
2 | g.178614734G>T | CA430104082 | TTN,TTN-AS1 | c.41076C>A (p.Leu13692=) c.22161C>A (p.Leu7387=) c.21960C>A (p.Leu7320=) c.21585C>A (p.Leu7195=) c.48780C>A (p.Leu16260=) c.43857C>A (p.Leu14619=) n.1482G>T c.47877C>A (p.Leu15959=) c.21771C>A (p.Leu7257=) c.21630C>A (p.Leu7210=) c.47673C>A (p.Leu15891=) c.43071C>A (p.Leu14357=) c.43068C>A (p.Leu14356=) c.40110C>A (p.Leu13370=) c.21726C>A (p.Leu7242=) c.43221C>A (p.Leu14407=) c.43218C>A (p.Leu14406=) c.42651C>A (p.Leu14217=) c.39993C>A (p.Leu13331=) c.39912C>A (p.Leu13304=) c.21675C>A (p.Leu7225=) c.11529C>A (p.Leu3843=) | |
2 | g.178614735A>C | CA349608012 | TTN,TTN-AS1 | c.41075T>G (p.Leu13692Arg) c.22160T>G (p.Leu7387Arg) c.21959T>G (p.Leu7320Arg) c.21584T>G (p.Leu7195Arg) c.48779T>G (p.Leu16260Arg) c.43856T>G (p.Leu14619Arg) n.1483A>C c.47876T>G (p.Leu15959Arg) c.21770T>G (p.Leu7257Arg) c.21629T>G (p.Leu7210Arg) c.47672T>G (p.Leu15891Arg) c.43070T>G (p.Leu14357Arg) c.43067T>G (p.Leu14356Arg) c.40109T>G (p.Leu13370Arg) c.21725T>G (p.Leu7242Arg) c.43220T>G (p.Leu14407Arg) c.43217T>G (p.Leu14406Arg) c.42650T>G (p.Leu14217Arg) c.39992T>G (p.Leu13331Arg) c.39911T>G (p.Leu13304Arg) c.21674T>G (p.Leu7225Arg) c.11528T>G (p.Leu3843Arg) | gnomAD v4 |
2 | g.178614735A>G | CA349608016 | TTN,TTN-AS1 | c.41075T>C (p.Leu13692Pro) c.22160T>C (p.Leu7387Pro) c.21959T>C (p.Leu7320Pro) c.21584T>C (p.Leu7195Pro) c.48779T>C (p.Leu16260Pro) c.43856T>C (p.Leu14619Pro) n.1483A>G c.47876T>C (p.Leu15959Pro) c.21770T>C (p.Leu7257Pro) c.21629T>C (p.Leu7210Pro) c.47672T>C (p.Leu15891Pro) c.43070T>C (p.Leu14357Pro) c.43067T>C (p.Leu14356Pro) c.40109T>C (p.Leu13370Pro) c.21725T>C (p.Leu7242Pro) c.43220T>C (p.Leu14407Pro) c.43217T>C (p.Leu14406Pro) c.42650T>C (p.Leu14217Pro) c.39992T>C (p.Leu13331Pro) c.39911T>C (p.Leu13304Pro) c.21674T>C (p.Leu7225Pro) c.11528T>C (p.Leu3843Pro) | |
2 | g.178614735A>T | CA349608014 | TTN,TTN-AS1 | c.41075T>A (p.Leu13692His) c.22160T>A (p.Leu7387His) c.21959T>A (p.Leu7320His) c.21584T>A (p.Leu7195His) c.48779T>A (p.Leu16260His) c.43856T>A (p.Leu14619His) n.1483A>T c.47876T>A (p.Leu15959His) c.21770T>A (p.Leu7257His) c.21629T>A (p.Leu7210His) c.47672T>A (p.Leu15891His) c.43070T>A (p.Leu14357His) c.43067T>A (p.Leu14356His) c.40109T>A (p.Leu13370His) c.21725T>A (p.Leu7242His) c.43220T>A (p.Leu14407His) c.43217T>A (p.Leu14406His) c.42650T>A (p.Leu14217His) c.39992T>A (p.Leu13331His) c.39911T>A (p.Leu13304His) c.21674T>A (p.Leu7225His) c.11528T>A (p.Leu3843His) | |
2 | g.178614736G>A | CA349608018 | TTN,TTN-AS1 | c.41074C>T (p.Leu13692Phe) c.22159C>T (p.Leu7387Phe) c.21958C>T (p.Leu7320Phe) c.21583C>T (p.Leu7195Phe) c.48778C>T (p.Leu16260Phe) c.43855C>T (p.Leu14619Phe) n.1484G>A c.47875C>T (p.Leu15959Phe) c.21769C>T (p.Leu7257Phe) c.21628C>T (p.Leu7210Phe) c.47671C>T (p.Leu15891Phe) c.43069C>T (p.Leu14357Phe) c.43066C>T (p.Leu14356Phe) c.40108C>T (p.Leu13370Phe) c.21724C>T (p.Leu7242Phe) c.43219C>T (p.Leu14407Phe) c.43216C>T (p.Leu14406Phe) c.42649C>T (p.Leu14217Phe) c.39991C>T (p.Leu13331Phe) c.39910C>T (p.Leu13304Phe) c.21673C>T (p.Leu7225Phe) c.11527C>T (p.Leu3843Phe) | |
2 | g.178614736G>C | CA349608019 | TTN,TTN-AS1 | c.41074C>G (p.Leu13692Val) c.22159C>G (p.Leu7387Val) c.21958C>G (p.Leu7320Val) c.21583C>G (p.Leu7195Val) c.48778C>G (p.Leu16260Val) c.43855C>G (p.Leu14619Val) n.1484G>C c.47875C>G (p.Leu15959Val) c.21769C>G (p.Leu7257Val) c.21628C>G (p.Leu7210Val) c.47671C>G (p.Leu15891Val) c.43069C>G (p.Leu14357Val) c.43066C>G (p.Leu14356Val) c.40108C>G (p.Leu13370Val) c.21724C>G (p.Leu7242Val) c.43219C>G (p.Leu14407Val) c.43216C>G (p.Leu14406Val) c.42649C>G (p.Leu14217Val) c.39991C>G (p.Leu13331Val) c.39910C>G (p.Leu13304Val) c.21673C>G (p.Leu7225Val) c.11527C>G (p.Leu3843Val) | |
2 | g.178614736G>T | CA349608020 | TTN,TTN-AS1 | c.41074C>A (p.Leu13692Ile) c.22159C>A (p.Leu7387Ile) c.21958C>A (p.Leu7320Ile) c.21583C>A (p.Leu7195Ile) c.48778C>A (p.Leu16260Ile) c.43855C>A (p.Leu14619Ile) n.1484G>T c.47875C>A (p.Leu15959Ile) c.21769C>A (p.Leu7257Ile) c.21628C>A (p.Leu7210Ile) c.47671C>A (p.Leu15891Ile) c.43069C>A (p.Leu14357Ile) c.43066C>A (p.Leu14356Ile) c.40108C>A (p.Leu13370Ile) c.21724C>A (p.Leu7242Ile) c.43219C>A (p.Leu14407Ile) c.43216C>A (p.Leu14406Ile) c.42649C>A (p.Leu14217Ile) c.39991C>A (p.Leu13331Ile) c.39910C>A (p.Leu13304Ile) c.21673C>A (p.Leu7225Ile) c.11527C>A (p.Leu3843Ile) | |
2 | g.178614737G>A | CA430104084 | TTN,TTN-AS1 | c.41073C>T (p.Phe13691=) c.22158C>T (p.Phe7386=) c.21957C>T (p.Phe7319=) c.21582C>T (p.Phe7194=) c.48777C>T (p.Phe16259=) c.43854C>T (p.Phe14618=) n.1485G>A c.47874C>T (p.Phe15958=) c.21768C>T (p.Phe7256=) c.21627C>T (p.Phe7209=) c.47670C>T (p.Phe15890=) c.43068C>T (p.Phe14356=) c.43065C>T (p.Phe14355=) c.40107C>T (p.Phe13369=) c.21723C>T (p.Phe7241=) c.43218C>T (p.Phe14406=) c.43215C>T (p.Phe14405=) c.42648C>T (p.Phe14216=) c.39990C>T (p.Phe13330=) c.39909C>T (p.Phe13303=) c.21672C>T (p.Phe7224=) c.11526C>T (p.Phe3842=) | ClinVar gnomAD v4 |
2 | g.178614737G>C | CA349608021 | TTN,TTN-AS1 | c.41073C>G (p.Phe13691Leu) c.22158C>G (p.Phe7386Leu) c.21957C>G (p.Phe7319Leu) c.21582C>G (p.Phe7194Leu) c.48777C>G (p.Phe16259Leu) c.43854C>G (p.Phe14618Leu) n.1485G>C c.47874C>G (p.Phe15958Leu) c.21768C>G (p.Phe7256Leu) c.21627C>G (p.Phe7209Leu) c.47670C>G (p.Phe15890Leu) c.43068C>G (p.Phe14356Leu) c.43065C>G (p.Phe14355Leu) c.40107C>G (p.Phe13369Leu) c.21723C>G (p.Phe7241Leu) c.43218C>G (p.Phe14406Leu) c.43215C>G (p.Phe14405Leu) c.42648C>G (p.Phe14216Leu) c.39990C>G (p.Phe13330Leu) c.39909C>G (p.Phe13303Leu) c.21672C>G (p.Phe7224Leu) c.11526C>G (p.Phe3842Leu) | |
2 | g.178614737G>T | CA349608022 | TTN,TTN-AS1 | c.41073C>A (p.Phe13691Leu) c.22158C>A (p.Phe7386Leu) c.21957C>A (p.Phe7319Leu) c.21582C>A (p.Phe7194Leu) c.48777C>A (p.Phe16259Leu) c.43854C>A (p.Phe14618Leu) n.1485G>T c.47874C>A (p.Phe15958Leu) c.21768C>A (p.Phe7256Leu) c.21627C>A (p.Phe7209Leu) c.47670C>A (p.Phe15890Leu) c.43068C>A (p.Phe14356Leu) c.43065C>A (p.Phe14355Leu) c.40107C>A (p.Phe13369Leu) c.21723C>A (p.Phe7241Leu) c.43218C>A (p.Phe14406Leu) c.43215C>A (p.Phe14405Leu) c.42648C>A (p.Phe14216Leu) c.39990C>A (p.Phe13330Leu) c.39909C>A (p.Phe13303Leu) c.21672C>A (p.Phe7224Leu) c.11526C>A (p.Phe3842Leu) | |
2 | g.178614738A= | CA1310549491 | TTN,TTN-AS1 | c.41072T= (p.Phe13691=) c.22157T= (p.Phe7386=) c.21956T= (p.Phe7319=) c.21581T= (p.Phe7194=) c.48776T= (p.Phe16259=) c.43853T= (p.Phe14618=) n.1486A= c.47873T= (p.Phe15958=) c.21767T= (p.Phe7256=) c.21626T= (p.Phe7209=) c.47669T= (p.Phe15890=) c.43067T= (p.Phe14356=) c.43064T= (p.Phe14355=) c.40106T= (p.Phe13369=) c.21722T= (p.Phe7241=) c.43217T= (p.Phe14406=) c.43214T= (p.Phe14405=) c.42647T= (p.Phe14216=) c.39989T= (p.Phe13330=) c.39908T= (p.Phe13303=) c.21671T= (p.Phe7224=) c.11525T= (p.Phe3842=) | |
2 | g.178614738A>C | CA349608025 | TTN,TTN-AS1 | c.41072T>G (p.Phe13691Cys) c.22157T>G (p.Phe7386Cys) c.21956T>G (p.Phe7319Cys) c.21581T>G (p.Phe7194Cys) c.48776T>G (p.Phe16259Cys) c.43853T>G (p.Phe14618Cys) n.1486A>C c.47873T>G (p.Phe15958Cys) c.21767T>G (p.Phe7256Cys) c.21626T>G (p.Phe7209Cys) c.47669T>G (p.Phe15890Cys) c.43067T>G (p.Phe14356Cys) c.43064T>G (p.Phe14355Cys) c.40106T>G (p.Phe13369Cys) c.21722T>G (p.Phe7241Cys) c.43217T>G (p.Phe14406Cys) c.43214T>G (p.Phe14405Cys) c.42647T>G (p.Phe14216Cys) c.39989T>G (p.Phe13330Cys) c.39908T>G (p.Phe13303Cys) c.21671T>G (p.Phe7224Cys) c.11525T>G (p.Phe3842Cys) | |
2 | g.178614738A>G | CA60987756 | TTN,TTN-AS1 | c.41072T>C (p.Phe13691Ser) c.22157T>C (p.Phe7386Ser) c.21956T>C (p.Phe7319Ser) c.21581T>C (p.Phe7194Ser) c.48776T>C (p.Phe16259Ser) c.43853T>C (p.Phe14618Ser) n.1486A>G c.47873T>C (p.Phe15958Ser) c.21767T>C (p.Phe7256Ser) c.21626T>C (p.Phe7209Ser) c.47669T>C (p.Phe15890Ser) c.43067T>C (p.Phe14356Ser) c.43064T>C (p.Phe14355Ser) c.40106T>C (p.Phe13369Ser) c.21722T>C (p.Phe7241Ser) c.43217T>C (p.Phe14406Ser) c.43214T>C (p.Phe14405Ser) c.42647T>C (p.Phe14216Ser) c.39989T>C (p.Phe13330Ser) c.39908T>C (p.Phe13303Ser) c.21671T>C (p.Phe7224Ser) c.11525T>C (p.Phe3842Ser) | dbSNP |
2 | g.178614738A>T | CA349608027 | TTN,TTN-AS1 | c.41072T>A (p.Phe13691Tyr) c.22157T>A (p.Phe7386Tyr) c.21956T>A (p.Phe7319Tyr) c.21581T>A (p.Phe7194Tyr) c.48776T>A (p.Phe16259Tyr) c.43853T>A (p.Phe14618Tyr) n.1486A>T c.47873T>A (p.Phe15958Tyr) c.21767T>A (p.Phe7256Tyr) c.21626T>A (p.Phe7209Tyr) c.47669T>A (p.Phe15890Tyr) c.43067T>A (p.Phe14356Tyr) c.43064T>A (p.Phe14355Tyr) c.40106T>A (p.Phe13369Tyr) c.21722T>A (p.Phe7241Tyr) c.43217T>A (p.Phe14406Tyr) c.43214T>A (p.Phe14405Tyr) c.42647T>A (p.Phe14216Tyr) c.39989T>A (p.Phe13330Tyr) c.39908T>A (p.Phe13303Tyr) c.21671T>A (p.Phe7224Tyr) c.11525T>A (p.Phe3842Tyr) | |
2 | g.178614739A>C | CA349608028 | TTN,TTN-AS1 | c.41071T>G (p.Phe13691Val) c.22156T>G (p.Phe7386Val) c.21955T>G (p.Phe7319Val) c.21580T>G (p.Phe7194Val) c.48775T>G (p.Phe16259Val) c.43852T>G (p.Phe14618Val) n.1487A>C c.47872T>G (p.Phe15958Val) c.21766T>G (p.Phe7256Val) c.21625T>G (p.Phe7209Val) c.47668T>G (p.Phe15890Val) c.43066T>G (p.Phe14356Val) c.43063T>G (p.Phe14355Val) c.40105T>G (p.Phe13369Val) c.21721T>G (p.Phe7241Val) c.43216T>G (p.Phe14406Val) c.43213T>G (p.Phe14405Val) c.42646T>G (p.Phe14216Val) c.39988T>G (p.Phe13330Val) c.39907T>G (p.Phe13303Val) c.21670T>G (p.Phe7224Val) c.11524T>G (p.Phe3842Val) | |
2 | g.178614739A>G | CA349608030 | TTN,TTN-AS1 | c.41071T>C (p.Phe13691Leu) c.22156T>C (p.Phe7386Leu) c.21955T>C (p.Phe7319Leu) c.21580T>C (p.Phe7194Leu) c.48775T>C (p.Phe16259Leu) c.43852T>C (p.Phe14618Leu) n.1487A>G c.47872T>C (p.Phe15958Leu) c.21766T>C (p.Phe7256Leu) c.21625T>C (p.Phe7209Leu) c.47668T>C (p.Phe15890Leu) c.43066T>C (p.Phe14356Leu) c.43063T>C (p.Phe14355Leu) c.40105T>C (p.Phe13369Leu) c.21721T>C (p.Phe7241Leu) c.43216T>C (p.Phe14406Leu) c.43213T>C (p.Phe14405Leu) c.42646T>C (p.Phe14216Leu) c.39988T>C (p.Phe13330Leu) c.39907T>C (p.Phe13303Leu) c.21670T>C (p.Phe7224Leu) c.11524T>C (p.Phe3842Leu) | |
2 | g.178614739A>T | CA349608031 | TTN,TTN-AS1 | c.41071T>A (p.Phe13691Ile) c.22156T>A (p.Phe7386Ile) c.21955T>A (p.Phe7319Ile) c.21580T>A (p.Phe7194Ile) c.48775T>A (p.Phe16259Ile) c.43852T>A (p.Phe14618Ile) n.1487A>T c.47872T>A (p.Phe15958Ile) c.21766T>A (p.Phe7256Ile) c.21625T>A (p.Phe7209Ile) c.47668T>A (p.Phe15890Ile) c.43066T>A (p.Phe14356Ile) c.43063T>A (p.Phe14355Ile) c.40105T>A (p.Phe13369Ile) c.21721T>A (p.Phe7241Ile) c.43216T>A (p.Phe14406Ile) c.43213T>A (p.Phe14405Ile) c.42646T>A (p.Phe14216Ile) c.39988T>A (p.Phe13330Ile) c.39907T>A (p.Phe13303Ile) c.21670T>A (p.Phe7224Ile) c.11524T>A (p.Phe3842Ile) | |
2 | g.178614740G>A | CA430104086 | TTN,TTN-AS1 | c.41070C>T (p.Ile13690=) c.22155C>T (p.Ile7385=) c.21954C>T (p.Ile7318=) c.21579C>T (p.Ile7193=) c.48774C>T (p.Ile16258=) c.43851C>T (p.Ile14617=) n.1488G>A c.47871C>T (p.Ile15957=) c.21765C>T (p.Ile7255=) c.21624C>T (p.Ile7208=) c.47667C>T (p.Ile15889=) c.43065C>T (p.Ile14355=) c.43062C>T (p.Ile14354=) c.40104C>T (p.Ile13368=) c.21720C>T (p.Ile7240=) c.43215C>T (p.Ile14405=) c.43212C>T (p.Ile14404=) c.42645C>T (p.Ile14215=) c.39987C>T (p.Ile13329=) c.39906C>T (p.Ile13302=) c.21669C>T (p.Ile7223=) c.11523C>T (p.Ile3841=) | |
2 | g.178614740G>C | CA349608034 | TTN,TTN-AS1 | c.41070C>G (p.Ile13690Met) c.22155C>G (p.Ile7385Met) c.21954C>G (p.Ile7318Met) c.21579C>G (p.Ile7193Met) c.48774C>G (p.Ile16258Met) c.43851C>G (p.Ile14617Met) n.1488G>C c.47871C>G (p.Ile15957Met) c.21765C>G (p.Ile7255Met) c.21624C>G (p.Ile7208Met) c.47667C>G (p.Ile15889Met) c.43065C>G (p.Ile14355Met) c.43062C>G (p.Ile14354Met) c.40104C>G (p.Ile13368Met) c.21720C>G (p.Ile7240Met) c.43215C>G (p.Ile14405Met) c.43212C>G (p.Ile14404Met) c.42645C>G (p.Ile14215Met) c.39987C>G (p.Ile13329Met) c.39906C>G (p.Ile13302Met) c.21669C>G (p.Ile7223Met) c.11523C>G (p.Ile3841Met) | |
2 | g.178614740G= | CA1310549492 | TTN,TTN-AS1 | c.41070C= (p.Ile13690=) c.22155C= (p.Ile7385=) c.21954C= (p.Ile7318=) c.21579C= (p.Ile7193=) c.48774C= (p.Ile16258=) c.43851C= (p.Ile14617=) n.1488G= c.47871C= (p.Ile15957=) c.21765C= (p.Ile7255=) c.21624C= (p.Ile7208=) c.47667C= (p.Ile15889=) c.43065C= (p.Ile14355=) c.43062C= (p.Ile14354=) c.40104C= (p.Ile13368=) c.21720C= (p.Ile7240=) c.43215C= (p.Ile14405=) c.43212C= (p.Ile14404=) c.42645C= (p.Ile14215=) c.39987C= (p.Ile13329=) c.39906C= (p.Ile13302=) c.21669C= (p.Ile7223=) c.11523C= (p.Ile3841=) | |
2 | g.178614740G>T | CA1994745 | TTN,TTN-AS1 | c.41070C>A (p.Ile13690=) c.22155C>A (p.Ile7385=) c.21954C>A (p.Ile7318=) c.21579C>A (p.Ile7193=) c.48774C>A (p.Ile16258=) c.43851C>A (p.Ile14617=) n.1488G>T c.47871C>A (p.Ile15957=) c.21765C>A (p.Ile7255=) c.21624C>A (p.Ile7208=) c.47667C>A (p.Ile15889=) c.43065C>A (p.Ile14355=) c.43062C>A (p.Ile14354=) c.40104C>A (p.Ile13368=) c.21720C>A (p.Ile7240=) c.43215C>A (p.Ile14405=) c.43212C>A (p.Ile14404=) c.42645C>A (p.Ile14215=) c.39987C>A (p.Ile13329=) c.39906C>A (p.Ile13302=) c.21669C>A (p.Ile7223=) c.11523C>A (p.Ile3841=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178614741A>C | CA349608035 | TTN,TTN-AS1 | c.41069T>G (p.Ile13690Ser) c.22154T>G (p.Ile7385Ser) c.21953T>G (p.Ile7318Ser) c.21578T>G (p.Ile7193Ser) c.48773T>G (p.Ile16258Ser) c.43850T>G (p.Ile14617Ser) n.1489A>C c.47870T>G (p.Ile15957Ser) c.21764T>G (p.Ile7255Ser) c.21623T>G (p.Ile7208Ser) c.47666T>G (p.Ile15889Ser) c.43064T>G (p.Ile14355Ser) c.43061T>G (p.Ile14354Ser) c.40103T>G (p.Ile13368Ser) c.21719T>G (p.Ile7240Ser) c.43214T>G (p.Ile14405Ser) c.43211T>G (p.Ile14404Ser) c.42644T>G (p.Ile14215Ser) c.39986T>G (p.Ile13329Ser) c.39905T>G (p.Ile13302Ser) c.21668T>G (p.Ile7223Ser) c.11522T>G (p.Ile3841Ser) | |
2 | g.178614741A>G | CA349608039 | TTN,TTN-AS1 | c.41069T>C (p.Ile13690Thr) c.22154T>C (p.Ile7385Thr) c.21953T>C (p.Ile7318Thr) c.21578T>C (p.Ile7193Thr) c.48773T>C (p.Ile16258Thr) c.43850T>C (p.Ile14617Thr) n.1489A>G c.47870T>C (p.Ile15957Thr) c.21764T>C (p.Ile7255Thr) c.21623T>C (p.Ile7208Thr) c.47666T>C (p.Ile15889Thr) c.43064T>C (p.Ile14355Thr) c.43061T>C (p.Ile14354Thr) c.40103T>C (p.Ile13368Thr) c.21719T>C (p.Ile7240Thr) c.43214T>C (p.Ile14405Thr) c.43211T>C (p.Ile14404Thr) c.42644T>C (p.Ile14215Thr) c.39986T>C (p.Ile13329Thr) c.39905T>C (p.Ile13302Thr) c.21668T>C (p.Ile7223Thr) c.11522T>C (p.Ile3841Thr) | |
2 | g.178614741A>T | CA349608037 | TTN,TTN-AS1 | c.41069T>A (p.Ile13690Asn) c.22154T>A (p.Ile7385Asn) c.21953T>A (p.Ile7318Asn) c.21578T>A (p.Ile7193Asn) c.48773T>A (p.Ile16258Asn) c.43850T>A (p.Ile14617Asn) n.1489A>T c.47870T>A (p.Ile15957Asn) c.21764T>A (p.Ile7255Asn) c.21623T>A (p.Ile7208Asn) c.47666T>A (p.Ile15889Asn) c.43064T>A (p.Ile14355Asn) c.43061T>A (p.Ile14354Asn) c.40103T>A (p.Ile13368Asn) c.21719T>A (p.Ile7240Asn) c.43214T>A (p.Ile14405Asn) c.43211T>A (p.Ile14404Asn) c.42644T>A (p.Ile14215Asn) c.39986T>A (p.Ile13329Asn) c.39905T>A (p.Ile13302Asn) c.21668T>A (p.Ile7223Asn) c.11522T>A (p.Ile3841Asn) | |
2 | g.178614742T>A | CA349608041 | TTN,TTN-AS1 | c.41068A>T (p.Ile13690Phe) c.22153A>T (p.Ile7385Phe) c.21952A>T (p.Ile7318Phe) c.21577A>T (p.Ile7193Phe) c.48772A>T (p.Ile16258Phe) c.43849A>T (p.Ile14617Phe) n.1490T>A c.47869A>T (p.Ile15957Phe) c.21763A>T (p.Ile7255Phe) c.21622A>T (p.Ile7208Phe) c.47665A>T (p.Ile15889Phe) c.43063A>T (p.Ile14355Phe) c.43060A>T (p.Ile14354Phe) c.40102A>T (p.Ile13368Phe) c.21718A>T (p.Ile7240Phe) c.43213A>T (p.Ile14405Phe) c.43210A>T (p.Ile14404Phe) c.42643A>T (p.Ile14215Phe) c.39985A>T (p.Ile13329Phe) c.39904A>T (p.Ile13302Phe) c.21667A>T (p.Ile7223Phe) c.11521A>T (p.Ile3841Phe) | |
2 | g.178614742T>C | CA349608043 | TTN,TTN-AS1 | c.41068A>G (p.Ile13690Val) c.22153A>G (p.Ile7385Val) c.21952A>G (p.Ile7318Val) c.21577A>G (p.Ile7193Val) c.48772A>G (p.Ile16258Val) c.43849A>G (p.Ile14617Val) n.1490T>C c.47869A>G (p.Ile15957Val) c.21763A>G (p.Ile7255Val) c.21622A>G (p.Ile7208Val) c.47665A>G (p.Ile15889Val) c.43063A>G (p.Ile14355Val) c.43060A>G (p.Ile14354Val) c.40102A>G (p.Ile13368Val) c.21718A>G (p.Ile7240Val) c.43213A>G (p.Ile14405Val) c.43210A>G (p.Ile14404Val) c.42643A>G (p.Ile14215Val) c.39985A>G (p.Ile13329Val) c.39904A>G (p.Ile13302Val) c.21667A>G (p.Ile7223Val) c.11521A>G (p.Ile3841Val) | ClinVar dbSNP gnomAD v4 |
2 | g.178614742T>G | CA349608045 | TTN,TTN-AS1 | c.41068A>C (p.Ile13690Leu) c.22153A>C (p.Ile7385Leu) c.21952A>C (p.Ile7318Leu) c.21577A>C (p.Ile7193Leu) c.48772A>C (p.Ile16258Leu) c.43849A>C (p.Ile14617Leu) n.1490T>G c.47869A>C (p.Ile15957Leu) c.21763A>C (p.Ile7255Leu) c.21622A>C (p.Ile7208Leu) c.47665A>C (p.Ile15889Leu) c.43063A>C (p.Ile14355Leu) c.43060A>C (p.Ile14354Leu) c.40102A>C (p.Ile13368Leu) c.21718A>C (p.Ile7240Leu) c.43213A>C (p.Ile14405Leu) c.43210A>C (p.Ile14404Leu) c.42643A>C (p.Ile14215Leu) c.39985A>C (p.Ile13329Leu) c.39904A>C (p.Ile13302Leu) c.21667A>C (p.Ile7223Leu) c.11521A>C (p.Ile3841Leu) | |
2 | g.178614743T>A | CA349608047 | TTN,TTN-AS1 | c.41067A>T (p.Glu13689Asp) c.22152A>T (p.Glu7384Asp) c.21951A>T (p.Glu7317Asp) c.21576A>T (p.Glu7192Asp) c.48771A>T (p.Glu16257Asp) c.43848A>T (p.Glu14616Asp) n.1491T>A c.47868A>T (p.Glu15956Asp) c.21762A>T (p.Glu7254Asp) c.21621A>T (p.Glu7207Asp) c.47664A>T (p.Glu15888Asp) c.43062A>T (p.Glu14354Asp) c.43059A>T (p.Glu14353Asp) c.40101A>T (p.Glu13367Asp) c.21717A>T (p.Glu7239Asp) c.43212A>T (p.Glu14404Asp) c.43209A>T (p.Glu14403Asp) c.42642A>T (p.Glu14214Asp) c.39984A>T (p.Glu13328Asp) c.39903A>T (p.Glu13301Asp) c.21666A>T (p.Glu7222Asp) c.11520A>T (p.Glu3840Asp) | |
2 | g.178614743T>C | CA430104090 | TTN,TTN-AS1 | c.41067A>G (p.Glu13689=) c.22152A>G (p.Glu7384=) c.21951A>G (p.Glu7317=) c.21576A>G (p.Glu7192=) c.48771A>G (p.Glu16257=) c.43848A>G (p.Glu14616=) n.1491T>C c.47868A>G (p.Glu15956=) c.21762A>G (p.Glu7254=) c.21621A>G (p.Glu7207=) c.47664A>G (p.Glu15888=) c.43062A>G (p.Glu14354=) c.43059A>G (p.Glu14353=) c.40101A>G (p.Glu13367=) c.21717A>G (p.Glu7239=) c.43212A>G (p.Glu14404=) c.43209A>G (p.Glu14403=) c.42642A>G (p.Glu14214=) c.39984A>G (p.Glu13328=) c.39903A>G (p.Glu13301=) c.21666A>G (p.Glu7222=) c.11520A>G (p.Glu3840=) | |
2 | g.178614743T>G | CA349608049 | TTN,TTN-AS1 | c.41067A>C (p.Glu13689Asp) c.22152A>C (p.Glu7384Asp) c.21951A>C (p.Glu7317Asp) c.21576A>C (p.Glu7192Asp) c.48771A>C (p.Glu16257Asp) c.43848A>C (p.Glu14616Asp) n.1491T>G c.47868A>C (p.Glu15956Asp) c.21762A>C (p.Glu7254Asp) c.21621A>C (p.Glu7207Asp) c.47664A>C (p.Glu15888Asp) c.43062A>C (p.Glu14354Asp) c.43059A>C (p.Glu14353Asp) c.40101A>C (p.Glu13367Asp) c.21717A>C (p.Glu7239Asp) c.43212A>C (p.Glu14404Asp) c.43209A>C (p.Glu14403Asp) c.42642A>C (p.Glu14214Asp) c.39984A>C (p.Glu13328Asp) c.39903A>C (p.Glu13301Asp) c.21666A>C (p.Glu7222Asp) c.11520A>C (p.Glu3840Asp) | |
2 | g.178614744T>A | CA349608051 | TTN,TTN-AS1 | c.41066A>T (p.Glu13689Val) c.22151A>T (p.Glu7384Val) c.21950A>T (p.Glu7317Val) c.21575A>T (p.Glu7192Val) c.48770A>T (p.Glu16257Val) c.43847A>T (p.Glu14616Val) n.1492T>A c.47867A>T (p.Glu15956Val) c.21761A>T (p.Glu7254Val) c.21620A>T (p.Glu7207Val) c.47663A>T (p.Glu15888Val) c.43061A>T (p.Glu14354Val) c.43058A>T (p.Glu14353Val) c.40100A>T (p.Glu13367Val) c.21716A>T (p.Glu7239Val) c.43211A>T (p.Glu14404Val) c.43208A>T (p.Glu14403Val) c.42641A>T (p.Glu14214Val) c.39983A>T (p.Glu13328Val) c.39902A>T (p.Glu13301Val) c.21665A>T (p.Glu7222Val) c.11519A>T (p.Glu3840Val) | |
2 | g.178614744T>C | CA349608052 | TTN,TTN-AS1 | c.41066A>G (p.Glu13689Gly) c.22151A>G (p.Glu7384Gly) c.21950A>G (p.Glu7317Gly) c.21575A>G (p.Glu7192Gly) c.48770A>G (p.Glu16257Gly) c.43847A>G (p.Glu14616Gly) n.1492T>C c.47867A>G (p.Glu15956Gly) c.21761A>G (p.Glu7254Gly) c.21620A>G (p.Glu7207Gly) c.47663A>G (p.Glu15888Gly) c.43061A>G (p.Glu14354Gly) c.43058A>G (p.Glu14353Gly) c.40100A>G (p.Glu13367Gly) c.21716A>G (p.Glu7239Gly) c.43211A>G (p.Glu14404Gly) c.43208A>G (p.Glu14403Gly) c.42641A>G (p.Glu14214Gly) c.39983A>G (p.Glu13328Gly) c.39902A>G (p.Glu13301Gly) c.21665A>G (p.Glu7222Gly) c.11519A>G (p.Glu3840Gly) | |
2 | g.178614744T>G | CA349608055 | TTN,TTN-AS1 | c.41066A>C (p.Glu13689Ala) c.22151A>C (p.Glu7384Ala) c.21950A>C (p.Glu7317Ala) c.21575A>C (p.Glu7192Ala) c.48770A>C (p.Glu16257Ala) c.43847A>C (p.Glu14616Ala) n.1492T>G c.47867A>C (p.Glu15956Ala) c.21761A>C (p.Glu7254Ala) c.21620A>C (p.Glu7207Ala) c.47663A>C (p.Glu15888Ala) c.43061A>C (p.Glu14354Ala) c.43058A>C (p.Glu14353Ala) c.40100A>C (p.Glu13367Ala) c.21716A>C (p.Glu7239Ala) c.43211A>C (p.Glu14404Ala) c.43208A>C (p.Glu14403Ala) c.42641A>C (p.Glu14214Ala) c.39983A>C (p.Glu13328Ala) c.39902A>C (p.Glu13301Ala) c.21665A>C (p.Glu7222Ala) c.11519A>C (p.Glu3840Ala) | |
2 | g.178614745C>A | CA349608057 | TTN,TTN-AS1 | c.41065G>T (p.Glu13689Ter) c.22150G>T (p.Glu7384Ter) c.21949G>T (p.Glu7317Ter) c.21574G>T (p.Glu7192Ter) c.48769G>T (p.Glu16257Ter) c.43846G>T (p.Glu14616Ter) n.1493C>A c.47866G>T (p.Glu15956Ter) c.21760G>T (p.Glu7254Ter) c.21619G>T (p.Glu7207Ter) c.47662G>T (p.Glu15888Ter) c.43060G>T (p.Glu14354Ter) c.43057G>T (p.Glu14353Ter) c.40099G>T (p.Glu13367Ter) c.21715G>T (p.Glu7239Ter) c.43210G>T (p.Glu14404Ter) c.43207G>T (p.Glu14403Ter) c.42640G>T (p.Glu14214Ter) c.39982G>T (p.Glu13328Ter) c.39901G>T (p.Glu13301Ter) c.21664G>T (p.Glu7222Ter) c.11518G>T (p.Glu3840Ter) | |
2 | g.178614745C= | CA1310549493 | TTN,TTN-AS1 | c.41065G= (p.Glu13689=) c.22150G= (p.Glu7384=) c.21949G= (p.Glu7317=) c.21574G= (p.Glu7192=) c.48769G= (p.Glu16257=) c.43846G= (p.Glu14616=) n.1493C= c.47866G= (p.Glu15956=) c.21760G= (p.Glu7254=) c.21619G= (p.Glu7207=) c.47662G= (p.Glu15888=) c.43060G= (p.Glu14354=) c.43057G= (p.Glu14353=) c.40099G= (p.Glu13367=) c.21715G= (p.Glu7239=) c.43210G= (p.Glu14404=) c.43207G= (p.Glu14403=) c.42640G= (p.Glu14214=) c.39982G= (p.Glu13328=) c.39901G= (p.Glu13301=) c.21664G= (p.Glu7222=) c.11518G= (p.Glu3840=) | |
2 | g.178614745C>G | CA349608059 | TTN,TTN-AS1 | c.41065G>C (p.Glu13689Gln) c.22150G>C (p.Glu7384Gln) c.21949G>C (p.Glu7317Gln) c.21574G>C (p.Glu7192Gln) c.48769G>C (p.Glu16257Gln) c.43846G>C (p.Glu14616Gln) n.1493C>G c.47866G>C (p.Glu15956Gln) c.21760G>C (p.Glu7254Gln) c.21619G>C (p.Glu7207Gln) c.47662G>C (p.Glu15888Gln) c.43060G>C (p.Glu14354Gln) c.43057G>C (p.Glu14353Gln) c.40099G>C (p.Glu13367Gln) c.21715G>C (p.Glu7239Gln) c.43210G>C (p.Glu14404Gln) c.43207G>C (p.Glu14403Gln) c.42640G>C (p.Glu14214Gln) c.39982G>C (p.Glu13328Gln) c.39901G>C (p.Glu13301Gln) c.21664G>C (p.Glu7222Gln) c.11518G>C (p.Glu3840Gln) |