Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178614731A=CA1310549488TTN,TTN-AS1c.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=)
2g.178614731A>CCA349607994TTN,TTN-AS1c.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
2g.178614731A>GCA1994742TTN,TTN-AS1c.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
2g.178614731A>TCA349607997TTN,TTN-AS1c.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)
2g.178614732T>ACA349607999TTN,TTN-AS1c.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)
2g.178614732T>CCA349608001TTN,TTN-AS1c.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)
2g.178614732T>GCA349608003TTN,TTN-AS1c.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)
2g.178614733C>ACA349608005TTN,TTN-AS1c.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)
2g.178614733C=CA1310549489TTN,TTN-AS1c.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=)
2g.178614733C>GCA349608007TTN,TTN-AS1c.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)
2g.178614733C>TCA1994743TTN,TTN-AS1c.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
2g.178614734G>ACA430104083TTN,TTN-AS1c.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
2g.178614734G>CCA1994744TTN,TTN-AS1c.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
2g.178614734G=CA1310549490TTN,TTN-AS1c.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=)
2g.178614734G>TCA430104082TTN,TTN-AS1c.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=)
2g.178614735A>CCA349608012TTN,TTN-AS1c.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
2g.178614735A>GCA349608016TTN,TTN-AS1c.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)
2g.178614735A>TCA349608014TTN,TTN-AS1c.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)
2g.178614736G>ACA349608018TTN,TTN-AS1c.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)
2g.178614736G>CCA349608019TTN,TTN-AS1c.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)
2g.178614736G>TCA349608020TTN,TTN-AS1c.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)
2g.178614737G>ACA430104084TTN,TTN-AS1c.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
2g.178614737G>CCA349608021TTN,TTN-AS1c.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)
2g.178614737G>TCA349608022TTN,TTN-AS1c.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)
2g.178614738A=CA1310549491TTN,TTN-AS1c.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=)
2g.178614738A>CCA349608025TTN,TTN-AS1c.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)
2g.178614738A>GCA60987756TTN,TTN-AS1c.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
2g.178614738A>TCA349608027TTN,TTN-AS1c.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)
2g.178614739A>CCA349608028TTN,TTN-AS1c.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)
2g.178614739A>GCA349608030TTN,TTN-AS1c.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)
2g.178614739A>TCA349608031TTN,TTN-AS1c.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)
2g.178614740G>ACA430104086TTN,TTN-AS1c.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=)
2g.178614740G>CCA349608034TTN,TTN-AS1c.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)
2g.178614740G=CA1310549492TTN,TTN-AS1c.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=)
2g.178614740G>TCA1994745TTN,TTN-AS1c.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
2g.178614741A>CCA349608035TTN,TTN-AS1c.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)
2g.178614741A>GCA349608039TTN,TTN-AS1c.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)
2g.178614741A>TCA349608037TTN,TTN-AS1c.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)
2g.178614742T>ACA349608041TTN,TTN-AS1c.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)
2g.178614742T>CCA349608043TTN,TTN-AS1c.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
2g.178614742T>GCA349608045TTN,TTN-AS1c.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)
2g.178614743T>ACA349608047TTN,TTN-AS1c.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)
2g.178614743T>CCA430104090TTN,TTN-AS1c.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=)
2g.178614743T>GCA349608049TTN,TTN-AS1c.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)
2g.178614744T>ACA349608051TTN,TTN-AS1c.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)
2g.178614744T>CCA349608052TTN,TTN-AS1c.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)
2g.178614744T>GCA349608055TTN,TTN-AS1c.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)
2g.178614745C>ACA349608057TTN,TTN-AS1c.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)
2g.178614745C=CA1310549493TTN,TTN-AS1c.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=)
2g.178614745C>GCA349608059TTN,TTN-AS1c.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)

Number of alleles fetched