Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178537692G>ACA349428125TTN,TTN-AS1c.91811C>T (p.Thr30604Ile)
c.72896C>T (p.Thr24299Ile)
c.72695C>T (p.Thr24232Ile)
c.72320C>T (p.Thr24107Ile)
c.99515C>T (p.Thr33172Ile)
c.94592C>T (p.Thr31531Ile)
n.446+14056G>A
n.647+1G>A
c.98612C>T (p.Thr32871Ile)
c.72506C>T (p.Thr24169Ile)
c.72365C>T (p.Thr24122Ile)
c.98408C>T (p.Thr32803Ile)
c.93806C>T (p.Thr31269Ile)
c.93803C>T (p.Thr31268Ile)
c.90845C>T (p.Thr30282Ile)
c.72461C>T (p.Thr24154Ile)
c.93956C>T (p.Thr31319Ile)
c.93953C>T (p.Thr31318Ile)
c.93386C>T (p.Thr31129Ile)
c.90728C>T (p.Thr30243Ile)
c.90647C>T (p.Thr30216Ile)
c.72410C>T (p.Thr24137Ile)
c.62264C>T (p.Thr20755Ile)
 gnomAD v4
2g.178537692G>CCA349428126TTN,TTN-AS1c.91811C>G (p.Thr30604Ser)
c.72896C>G (p.Thr24299Ser)
c.72695C>G (p.Thr24232Ser)
c.72320C>G (p.Thr24107Ser)
c.99515C>G (p.Thr33172Ser)
c.94592C>G (p.Thr31531Ser)
n.446+14056G>C
n.647+1G>C
c.98612C>G (p.Thr32871Ser)
c.72506C>G (p.Thr24169Ser)
c.72365C>G (p.Thr24122Ser)
c.98408C>G (p.Thr32803Ser)
c.93806C>G (p.Thr31269Ser)
c.93803C>G (p.Thr31268Ser)
c.90845C>G (p.Thr30282Ser)
c.72461C>G (p.Thr24154Ser)
c.93956C>G (p.Thr31319Ser)
c.93953C>G (p.Thr31318Ser)
c.93386C>G (p.Thr31129Ser)
c.90728C>G (p.Thr30243Ser)
c.90647C>G (p.Thr30216Ser)
c.72410C>G (p.Thr24137Ser)
c.62264C>G (p.Thr20755Ser)
 gnomAD v4
2g.178537692G=CA1310515613TTN,TTN-AS1c.91811C= (p.Thr30604=)
c.72896C= (p.Thr24299=)
c.72695C= (p.Thr24232=)
c.72320C= (p.Thr24107=)
c.99515C= (p.Thr33172=)
c.94592C= (p.Thr31531=)
n.446+14056G=
n.647+1G=
c.98612C= (p.Thr32871=)
c.72506C= (p.Thr24169=)
c.72365C= (p.Thr24122=)
c.98408C= (p.Thr32803=)
c.93806C= (p.Thr31269=)
c.93803C= (p.Thr31268=)
c.90845C= (p.Thr30282=)
c.72461C= (p.Thr24154=)
c.93956C= (p.Thr31319=)
c.93953C= (p.Thr31318=)
c.93386C= (p.Thr31129=)
c.90728C= (p.Thr30243=)
c.90647C= (p.Thr30216=)
c.72410C= (p.Thr24137=)
c.62264C= (p.Thr20755=)
2g.178537692G>TCA16610290TTN,TTN-AS1c.91811C>A (p.Thr30604Asn)
c.72896C>A (p.Thr24299Asn)
c.72695C>A (p.Thr24232Asn)
c.72320C>A (p.Thr24107Asn)
c.99515C>A (p.Thr33172Asn)
c.94592C>A (p.Thr31531Asn)
n.446+14056G>T
n.647+1G>T
c.98612C>A (p.Thr32871Asn)
c.72506C>A (p.Thr24169Asn)
c.72365C>A (p.Thr24122Asn)
c.98408C>A (p.Thr32803Asn)
c.93806C>A (p.Thr31269Asn)
c.93803C>A (p.Thr31268Asn)
c.90845C>A (p.Thr30282Asn)
c.72461C>A (p.Thr24154Asn)
c.93956C>A (p.Thr31319Asn)
c.93953C>A (p.Thr31318Asn)
c.93386C>A (p.Thr31129Asn)
c.90728C>A (p.Thr30243Asn)
c.90647C>A (p.Thr30216Asn)
c.72410C>A (p.Thr24137Asn)
c.62264C>A (p.Thr20755Asn)
 ClinVar dbSNP
2g.178537693delCA2662121397TTN,TTN-AS1c.91810del (p.Thr30604ProfsTer3)
c.72895del (p.Thr24299ProfsTer3)
c.72694del (p.Thr24232ProfsTer3)
c.72319del (p.Thr24107ProfsTer3)
c.99514del (p.Thr33172ProfsTer3)
c.94591del (p.Thr31531ProfsTer3)
n.446+14057del
n.647+2del
c.98611del (p.Thr32871ProfsTer3)
c.72505del (p.Thr24169ProfsTer3)
c.72364del (p.Thr24122ProfsTer3)
c.98407del (p.Thr32803ProfsTer3)
c.93805del (p.Thr31269ProfsTer3)
c.93802del (p.Thr31268ProfsTer3)
c.90844del (p.Thr30282ProfsTer3)
c.72460del (p.Thr24154ProfsTer3)
c.93955del (p.Thr31319ProfsTer3)
c.93952del (p.Thr31318ProfsTer3)
c.93385del (p.Thr31129ProfsTer3)
c.90727del (p.Thr30243ProfsTer3)
c.90646del (p.Thr30216ProfsTer3)
c.72409del (p.Thr24137ProfsTer3)
c.62263del (p.Thr20755ProfsTer3)
 gnomAD v4
2g.178537693T>ACA349428129TTN,TTN-AS1c.91810A>T (p.Thr30604Ser)
c.72895A>T (p.Thr24299Ser)
c.72694A>T (p.Thr24232Ser)
c.72319A>T (p.Thr24107Ser)
c.99514A>T (p.Thr33172Ser)
c.94591A>T (p.Thr31531Ser)
n.446+14057T>A
n.647+2T>A
c.98611A>T (p.Thr32871Ser)
c.72505A>T (p.Thr24169Ser)
c.72364A>T (p.Thr24122Ser)
c.98407A>T (p.Thr32803Ser)
c.93805A>T (p.Thr31269Ser)
c.93802A>T (p.Thr31268Ser)
c.90844A>T (p.Thr30282Ser)
c.72460A>T (p.Thr24154Ser)
c.93955A>T (p.Thr31319Ser)
c.93952A>T (p.Thr31318Ser)
c.93385A>T (p.Thr31129Ser)
c.90727A>T (p.Thr30243Ser)
c.90646A>T (p.Thr30216Ser)
c.72409A>T (p.Thr24137Ser)
c.62263A>T (p.Thr20755Ser)
2g.178537693T>CCA349428131TTN,TTN-AS1c.91810A>G (p.Thr30604Ala)
c.72895A>G (p.Thr24299Ala)
c.72694A>G (p.Thr24232Ala)
c.72319A>G (p.Thr24107Ala)
c.99514A>G (p.Thr33172Ala)
c.94591A>G (p.Thr31531Ala)
n.446+14057T>C
n.647+2T>C
c.98611A>G (p.Thr32871Ala)
c.72505A>G (p.Thr24169Ala)
c.72364A>G (p.Thr24122Ala)
c.98407A>G (p.Thr32803Ala)
c.93805A>G (p.Thr31269Ala)
c.93802A>G (p.Thr31268Ala)
c.90844A>G (p.Thr30282Ala)
c.72460A>G (p.Thr24154Ala)
c.93955A>G (p.Thr31319Ala)
c.93952A>G (p.Thr31318Ala)
c.93385A>G (p.Thr31129Ala)
c.90727A>G (p.Thr30243Ala)
c.90646A>G (p.Thr30216Ala)
c.72409A>G (p.Thr24137Ala)
c.62263A>G (p.Thr20755Ala)
2g.178537693T>GCA349428132TTN,TTN-AS1c.91810A>C (p.Thr30604Pro)
c.72895A>C (p.Thr24299Pro)
c.72694A>C (p.Thr24232Pro)
c.72319A>C (p.Thr24107Pro)
c.99514A>C (p.Thr33172Pro)
c.94591A>C (p.Thr31531Pro)
n.446+14057T>G
n.647+2T>G
c.98611A>C (p.Thr32871Pro)
c.72505A>C (p.Thr24169Pro)
c.72364A>C (p.Thr24122Pro)
c.98407A>C (p.Thr32803Pro)
c.93805A>C (p.Thr31269Pro)
c.93802A>C (p.Thr31268Pro)
c.90844A>C (p.Thr30282Pro)
c.72460A>C (p.Thr24154Pro)
c.93955A>C (p.Thr31319Pro)
c.93952A>C (p.Thr31318Pro)
c.93385A>C (p.Thr31129Pro)
c.90727A>C (p.Thr30243Pro)
c.90646A>C (p.Thr30216Pro)
c.72409A>C (p.Thr24137Pro)
c.62263A>C (p.Thr20755Pro)
 dbSNP
2g.178537693T=CA1310515615TTN,TTN-AS1c.91810A= (p.Thr30604=)
c.72895A= (p.Thr24299=)
c.72694A= (p.Thr24232=)
c.72319A= (p.Thr24107=)
c.99514A= (p.Thr33172=)
c.94591A= (p.Thr31531=)
n.446+14057T=
n.647+2T=
c.98611A= (p.Thr32871=)
c.72505A= (p.Thr24169=)
c.72364A= (p.Thr24122=)
c.98407A= (p.Thr32803=)
c.93805A= (p.Thr31269=)
c.93802A= (p.Thr31268=)
c.90844A= (p.Thr30282=)
c.72460A= (p.Thr24154=)
c.93955A= (p.Thr31319=)
c.93952A= (p.Thr31318=)
c.93385A= (p.Thr31129=)
c.90727A= (p.Thr30243=)
c.90646A= (p.Thr30216=)
c.72409A= (p.Thr24137=)
c.62263A= (p.Thr20755=)
2g.178537694A=CA1310515617TTN,TTN-AS1c.91809T= (p.Tyr30603=)
c.72894T= (p.Tyr24298=)
c.72693T= (p.Tyr24231=)
c.72318T= (p.Tyr24106=)
c.99513T= (p.Tyr33171=)
c.94590T= (p.Tyr31530=)
n.446+14058A=
n.647+3A=
c.98610T= (p.Tyr32870=)
c.72504T= (p.Tyr24168=)
c.72363T= (p.Tyr24121=)
c.98406T= (p.Tyr32802=)
c.93804T= (p.Tyr31268=)
c.93801T= (p.Tyr31267=)
c.90843T= (p.Tyr30281=)
c.72459T= (p.Tyr24153=)
c.93954T= (p.Tyr31318=)
c.93951T= (p.Tyr31317=)
c.93384T= (p.Tyr31128=)
c.90726T= (p.Tyr30242=)
c.90645T= (p.Tyr30215=)
c.72408T= (p.Tyr24136=)
c.62262T= (p.Tyr20754=)
2g.178537694A>CCA349428134TTN,TTN-AS1c.91809T>G (p.Tyr30603Ter)
c.72894T>G (p.Tyr24298Ter)
c.72693T>G (p.Tyr24231Ter)
c.72318T>G (p.Tyr24106Ter)
c.99513T>G (p.Tyr33171Ter)
c.94590T>G (p.Tyr31530Ter)
n.446+14058A>C
n.647+3A>C
c.98610T>G (p.Tyr32870Ter)
c.72504T>G (p.Tyr24168Ter)
c.72363T>G (p.Tyr24121Ter)
c.98406T>G (p.Tyr32802Ter)
c.93804T>G (p.Tyr31268Ter)
c.93801T>G (p.Tyr31267Ter)
c.90843T>G (p.Tyr30281Ter)
c.72459T>G (p.Tyr24153Ter)
c.93954T>G (p.Tyr31318Ter)
c.93951T>G (p.Tyr31317Ter)
c.93384T>G (p.Tyr31128Ter)
c.90726T>G (p.Tyr30242Ter)
c.90645T>G (p.Tyr30215Ter)
c.72408T>G (p.Tyr24136Ter)
c.62262T>G (p.Tyr20754Ter)
2g.178537694A>GCA430239104TTN,TTN-AS1c.91809T>C (p.Tyr30603=)
c.72894T>C (p.Tyr24298=)
c.72693T>C (p.Tyr24231=)
c.72318T>C (p.Tyr24106=)
c.99513T>C (p.Tyr33171=)
c.94590T>C (p.Tyr31530=)
n.446+14058A>G
n.647+3A>G
c.98610T>C (p.Tyr32870=)
c.72504T>C (p.Tyr24168=)
c.72363T>C (p.Tyr24121=)
c.98406T>C (p.Tyr32802=)
c.93804T>C (p.Tyr31268=)
c.93801T>C (p.Tyr31267=)
c.90843T>C (p.Tyr30281=)
c.72459T>C (p.Tyr24153=)
c.93954T>C (p.Tyr31318=)
c.93951T>C (p.Tyr31317=)
c.93384T>C (p.Tyr31128=)
c.90726T>C (p.Tyr30242=)
c.90645T>C (p.Tyr30215=)
c.72408T>C (p.Tyr24136=)
c.62262T>C (p.Tyr20754=)
 dbSNP gnomAD v2 gnomAD v4
2g.178537694A>TCA349428136TTN,TTN-AS1c.91809T>A (p.Tyr30603Ter)
c.72894T>A (p.Tyr24298Ter)
c.72693T>A (p.Tyr24231Ter)
c.72318T>A (p.Tyr24106Ter)
c.99513T>A (p.Tyr33171Ter)
c.94590T>A (p.Tyr31530Ter)
n.446+14058A>T
n.647+3A>T
c.98610T>A (p.Tyr32870Ter)
c.72504T>A (p.Tyr24168Ter)
c.72363T>A (p.Tyr24121Ter)
c.98406T>A (p.Tyr32802Ter)
c.93804T>A (p.Tyr31268Ter)
c.93801T>A (p.Tyr31267Ter)
c.90843T>A (p.Tyr30281Ter)
c.72459T>A (p.Tyr24153Ter)
c.93954T>A (p.Tyr31318Ter)
c.93951T>A (p.Tyr31317Ter)
c.93384T>A (p.Tyr31128Ter)
c.90726T>A (p.Tyr30242Ter)
c.90645T>A (p.Tyr30215Ter)
c.72408T>A (p.Tyr24136Ter)
c.62262T>A (p.Tyr20754Ter)
2g.178537695T>ACA349428138TTN,TTN-AS1c.91808A>T (p.Tyr30603Phe)
c.72893A>T (p.Tyr24298Phe)
c.72692A>T (p.Tyr24231Phe)
c.72317A>T (p.Tyr24106Phe)
c.99512A>T (p.Tyr33171Phe)
c.94589A>T (p.Tyr31530Phe)
n.446+14059T>A
n.647+4T>A
c.98609A>T (p.Tyr32870Phe)
c.72503A>T (p.Tyr24168Phe)
c.72362A>T (p.Tyr24121Phe)
c.98405A>T (p.Tyr32802Phe)
c.93803A>T (p.Tyr31268Phe)
c.93800A>T (p.Tyr31267Phe)
c.90842A>T (p.Tyr30281Phe)
c.72458A>T (p.Tyr24153Phe)
c.93953A>T (p.Tyr31318Phe)
c.93950A>T (p.Tyr31317Phe)
c.93383A>T (p.Tyr31128Phe)
c.90725A>T (p.Tyr30242Phe)
c.90644A>T (p.Tyr30215Phe)
c.72407A>T (p.Tyr24136Phe)
c.62261A>T (p.Tyr20754Phe)
2g.178537695T>CCA349428140TTN,TTN-AS1c.91808A>G (p.Tyr30603Cys)
c.72893A>G (p.Tyr24298Cys)
c.72692A>G (p.Tyr24231Cys)
c.72317A>G (p.Tyr24106Cys)
c.99512A>G (p.Tyr33171Cys)
c.94589A>G (p.Tyr31530Cys)
n.446+14059T>C
n.647+4T>C
c.98609A>G (p.Tyr32870Cys)
c.72503A>G (p.Tyr24168Cys)
c.72362A>G (p.Tyr24121Cys)
c.98405A>G (p.Tyr32802Cys)
c.93803A>G (p.Tyr31268Cys)
c.93800A>G (p.Tyr31267Cys)
c.90842A>G (p.Tyr30281Cys)
c.72458A>G (p.Tyr24153Cys)
c.93953A>G (p.Tyr31318Cys)
c.93950A>G (p.Tyr31317Cys)
c.93383A>G (p.Tyr31128Cys)
c.90725A>G (p.Tyr30242Cys)
c.90644A>G (p.Tyr30215Cys)
c.72407A>G (p.Tyr24136Cys)
c.62261A>G (p.Tyr20754Cys)
 gnomAD v3 gnomAD v4
2g.178537695T>GCA349428142TTN,TTN-AS1c.91808A>C (p.Tyr30603Ser)
c.72893A>C (p.Tyr24298Ser)
c.72692A>C (p.Tyr24231Ser)
c.72317A>C (p.Tyr24106Ser)
c.99512A>C (p.Tyr33171Ser)
c.94589A>C (p.Tyr31530Ser)
n.446+14059T>G
n.647+4T>G
c.98609A>C (p.Tyr32870Ser)
c.72503A>C (p.Tyr24168Ser)
c.72362A>C (p.Tyr24121Ser)
c.98405A>C (p.Tyr32802Ser)
c.93803A>C (p.Tyr31268Ser)
c.93800A>C (p.Tyr31267Ser)
c.90842A>C (p.Tyr30281Ser)
c.72458A>C (p.Tyr24153Ser)
c.93953A>C (p.Tyr31318Ser)
c.93950A>C (p.Tyr31317Ser)
c.93383A>C (p.Tyr31128Ser)
c.90725A>C (p.Tyr30242Ser)
c.90644A>C (p.Tyr30215Ser)
c.72407A>C (p.Tyr24136Ser)
c.62261A>C (p.Tyr20754Ser)
2g.178537695_178537701delCA2662121400TTN,TTN-AS1c.91802_91808del (p.Gly30601ValfsTer4)
c.72887_72893del (p.Gly24296ValfsTer4)
c.72686_72692del (p.Gly24229ValfsTer4)
c.72311_72317del (p.Gly24104ValfsTer4)
c.99506_99512del (p.Gly33169ValfsTer4)
c.94583_94589del (p.Gly31528ValfsTer4)
n.446+14059_446+14065del
n.647+4_647+10del
c.98603_98609del (p.Gly32868ValfsTer4)
c.72497_72503del (p.Gly24166ValfsTer4)
c.72356_72362del (p.Gly24119ValfsTer4)
c.98399_98405del (p.Gly32800ValfsTer4)
c.93797_93803del (p.Gly31266ValfsTer4)
c.93794_93800del (p.Gly31265ValfsTer4)
c.90836_90842del (p.Gly30279ValfsTer4)
c.72452_72458del (p.Gly24151ValfsTer4)
c.93947_93953del (p.Gly31316ValfsTer4)
c.93944_93950del (p.Gly31315ValfsTer4)
c.93377_93383del (p.Gly31126ValfsTer4)
c.90719_90725del (p.Gly30240ValfsTer4)
c.90638_90644del (p.Gly30213ValfsTer4)
c.72401_72407del (p.Gly24134ValfsTer4)
c.62255_62261del (p.Gly20752ValfsTer4)
 gnomAD v4
2g.178537696A=CA1310515618TTN,TTN-AS1c.91807T= (p.Tyr30603=)
c.72892T= (p.Tyr24298=)
c.72691T= (p.Tyr24231=)
c.72316T= (p.Tyr24106=)
c.99511T= (p.Tyr33171=)
c.94588T= (p.Tyr31530=)
n.446+14060A=
n.647+5A=
c.98608T= (p.Tyr32870=)
c.72502T= (p.Tyr24168=)
c.72361T= (p.Tyr24121=)
c.98404T= (p.Tyr32802=)
c.93802T= (p.Tyr31268=)
c.93799T= (p.Tyr31267=)
c.90841T= (p.Tyr30281=)
c.72457T= (p.Tyr24153=)
c.93952T= (p.Tyr31318=)
c.93949T= (p.Tyr31317=)
c.93382T= (p.Tyr31128=)
c.90724T= (p.Tyr30242=)
c.90643T= (p.Tyr30215=)
c.72406T= (p.Tyr24136=)
c.62260T= (p.Tyr20754=)
2g.178537696A>CCA349428146TTN,TTN-AS1c.91807T>G (p.Tyr30603Asp)
c.72892T>G (p.Tyr24298Asp)
c.72691T>G (p.Tyr24231Asp)
c.72316T>G (p.Tyr24106Asp)
c.99511T>G (p.Tyr33171Asp)
c.94588T>G (p.Tyr31530Asp)
n.446+14060A>C
n.647+5A>C
c.98608T>G (p.Tyr32870Asp)
c.72502T>G (p.Tyr24168Asp)
c.72361T>G (p.Tyr24121Asp)
c.98404T>G (p.Tyr32802Asp)
c.93802T>G (p.Tyr31268Asp)
c.93799T>G (p.Tyr31267Asp)
c.90841T>G (p.Tyr30281Asp)
c.72457T>G (p.Tyr24153Asp)
c.93952T>G (p.Tyr31318Asp)
c.93949T>G (p.Tyr31317Asp)
c.93382T>G (p.Tyr31128Asp)
c.90724T>G (p.Tyr30242Asp)
c.90643T>G (p.Tyr30215Asp)
c.72406T>G (p.Tyr24136Asp)
c.62260T>G (p.Tyr20754Asp)
2g.178537696A>GCA1986178TTN,TTN-AS1c.91807T>C (p.Tyr30603His)
c.72892T>C (p.Tyr24298His)
c.72691T>C (p.Tyr24231His)
c.72316T>C (p.Tyr24106His)
c.99511T>C (p.Tyr33171His)
c.94588T>C (p.Tyr31530His)
n.446+14060A>G
n.647+5A>G
c.98608T>C (p.Tyr32870His)
c.72502T>C (p.Tyr24168His)
c.72361T>C (p.Tyr24121His)
c.98404T>C (p.Tyr32802His)
c.93802T>C (p.Tyr31268His)
c.93799T>C (p.Tyr31267His)
c.90841T>C (p.Tyr30281His)
c.72457T>C (p.Tyr24153His)
c.93952T>C (p.Tyr31318His)
c.93949T>C (p.Tyr31317His)
c.93382T>C (p.Tyr31128His)
c.90724T>C (p.Tyr30242His)
c.90643T>C (p.Tyr30215His)
c.72406T>C (p.Tyr24136His)
c.62260T>C (p.Tyr20754His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178537696A>TCA349428143TTN,TTN-AS1c.91807T>A (p.Tyr30603Asn)
c.72892T>A (p.Tyr24298Asn)
c.72691T>A (p.Tyr24231Asn)
c.72316T>A (p.Tyr24106Asn)
c.99511T>A (p.Tyr33171Asn)
c.94588T>A (p.Tyr31530Asn)
n.446+14060A>T
n.647+5A>T
c.98608T>A (p.Tyr32870Asn)
c.72502T>A (p.Tyr24168Asn)
c.72361T>A (p.Tyr24121Asn)
c.98404T>A (p.Tyr32802Asn)
c.93802T>A (p.Tyr31268Asn)
c.93799T>A (p.Tyr31267Asn)
c.90841T>A (p.Tyr30281Asn)
c.72457T>A (p.Tyr24153Asn)
c.93952T>A (p.Tyr31318Asn)
c.93949T>A (p.Tyr31317Asn)
c.93382T>A (p.Tyr31128Asn)
c.90724T>A (p.Tyr30242Asn)
c.90643T>A (p.Tyr30215Asn)
c.72406T>A (p.Tyr24136Asn)
c.62260T>A (p.Tyr20754Asn)
2g.178537697A>CCA430239107TTN,TTN-AS1c.91806T>G (p.Val30602=)
c.72891T>G (p.Val24297=)
c.72690T>G (p.Val24230=)
c.72315T>G (p.Val24105=)
c.99510T>G (p.Val33170=)
c.94587T>G (p.Val31529=)
n.446+14061A>C
n.647+6A>C
c.98607T>G (p.Val32869=)
c.72501T>G (p.Val24167=)
c.72360T>G (p.Val24120=)
c.98403T>G (p.Val32801=)
c.93801T>G (p.Val31267=)
c.93798T>G (p.Val31266=)
c.90840T>G (p.Val30280=)
c.72456T>G (p.Val24152=)
c.93951T>G (p.Val31317=)
c.93948T>G (p.Val31316=)
c.93381T>G (p.Val31127=)
c.90723T>G (p.Val30241=)
c.90642T>G (p.Val30214=)
c.72405T>G (p.Val24135=)
c.62259T>G (p.Val20753=)
2g.178537697A>GCA430239109TTN,TTN-AS1c.91806T>C (p.Val30602=)
c.72891T>C (p.Val24297=)
c.72690T>C (p.Val24230=)
c.72315T>C (p.Val24105=)
c.99510T>C (p.Val33170=)
c.94587T>C (p.Val31529=)
n.446+14061A>G
n.647+6A>G
c.98607T>C (p.Val32869=)
c.72501T>C (p.Val24167=)
c.72360T>C (p.Val24120=)
c.98403T>C (p.Val32801=)
c.93801T>C (p.Val31267=)
c.93798T>C (p.Val31266=)
c.90840T>C (p.Val30280=)
c.72456T>C (p.Val24152=)
c.93951T>C (p.Val31317=)
c.93948T>C (p.Val31316=)
c.93381T>C (p.Val31127=)
c.90723T>C (p.Val30241=)
c.90642T>C (p.Val30214=)
c.72405T>C (p.Val24135=)
c.62259T>C (p.Val20753=)
2g.178537697A>TCA430239110TTN,TTN-AS1c.91806T>A (p.Val30602=)
c.72891T>A (p.Val24297=)
c.72690T>A (p.Val24230=)
c.72315T>A (p.Val24105=)
c.99510T>A (p.Val33170=)
c.94587T>A (p.Val31529=)
n.446+14061A>T
n.647+6A>T
c.98607T>A (p.Val32869=)
c.72501T>A (p.Val24167=)
c.72360T>A (p.Val24120=)
c.98403T>A (p.Val32801=)
c.93801T>A (p.Val31267=)
c.93798T>A (p.Val31266=)
c.90840T>A (p.Val30280=)
c.72456T>A (p.Val24152=)
c.93951T>A (p.Val31317=)
c.93948T>A (p.Val31316=)
c.93381T>A (p.Val31127=)
c.90723T>A (p.Val30241=)
c.90642T>A (p.Val30214=)
c.72405T>A (p.Val24135=)
c.62259T>A (p.Val20753=)
2g.178537698A>CCA349428151TTN,TTN-AS1c.91805T>G (p.Val30602Gly)
c.72890T>G (p.Val24297Gly)
c.72689T>G (p.Val24230Gly)
c.72314T>G (p.Val24105Gly)
c.99509T>G (p.Val33170Gly)
c.94586T>G (p.Val31529Gly)
n.446+14062A>C
n.647+7A>C
c.98606T>G (p.Val32869Gly)
c.72500T>G (p.Val24167Gly)
c.72359T>G (p.Val24120Gly)
c.98402T>G (p.Val32801Gly)
c.93800T>G (p.Val31267Gly)
c.93797T>G (p.Val31266Gly)
c.90839T>G (p.Val30280Gly)
c.72455T>G (p.Val24152Gly)
c.93950T>G (p.Val31317Gly)
c.93947T>G (p.Val31316Gly)
c.93380T>G (p.Val31127Gly)
c.90722T>G (p.Val30241Gly)
c.90641T>G (p.Val30214Gly)
c.72404T>G (p.Val24135Gly)
c.62258T>G (p.Val20753Gly)
2g.178537698A>GCA349428148TTN,TTN-AS1c.91805T>C (p.Val30602Ala)
c.72890T>C (p.Val24297Ala)
c.72689T>C (p.Val24230Ala)
c.72314T>C (p.Val24105Ala)
c.99509T>C (p.Val33170Ala)
c.94586T>C (p.Val31529Ala)
n.446+14062A>G
n.647+7A>G
c.98606T>C (p.Val32869Ala)
c.72500T>C (p.Val24167Ala)
c.72359T>C (p.Val24120Ala)
c.98402T>C (p.Val32801Ala)
c.93800T>C (p.Val31267Ala)
c.93797T>C (p.Val31266Ala)
c.90839T>C (p.Val30280Ala)
c.72455T>C (p.Val24152Ala)
c.93950T>C (p.Val31317Ala)
c.93947T>C (p.Val31316Ala)
c.93380T>C (p.Val31127Ala)
c.90722T>C (p.Val30241Ala)
c.90641T>C (p.Val30214Ala)
c.72404T>C (p.Val24135Ala)
c.62258T>C (p.Val20753Ala)
2g.178537698A>TCA349428150TTN,TTN-AS1c.91805T>A (p.Val30602Asp)
c.72890T>A (p.Val24297Asp)
c.72689T>A (p.Val24230Asp)
c.72314T>A (p.Val24105Asp)
c.99509T>A (p.Val33170Asp)
c.94586T>A (p.Val31529Asp)
n.446+14062A>T
n.647+7A>T
c.98606T>A (p.Val32869Asp)
c.72500T>A (p.Val24167Asp)
c.72359T>A (p.Val24120Asp)
c.98402T>A (p.Val32801Asp)
c.93800T>A (p.Val31267Asp)
c.93797T>A (p.Val31266Asp)
c.90839T>A (p.Val30280Asp)
c.72455T>A (p.Val24152Asp)
c.93950T>A (p.Val31317Asp)
c.93947T>A (p.Val31316Asp)
c.93380T>A (p.Val31127Asp)
c.90722T>A (p.Val30241Asp)
c.90641T>A (p.Val30214Asp)
c.72404T>A (p.Val24135Asp)
c.62258T>A (p.Val20753Asp)
2g.178537699C>ACA349428153TTN,TTN-AS1c.91804G>T (p.Val30602Phe)
c.72889G>T (p.Val24297Phe)
c.72688G>T (p.Val24230Phe)
c.72313G>T (p.Val24105Phe)
c.99508G>T (p.Val33170Phe)
c.94585G>T (p.Val31529Phe)
n.446+14063C>A
n.647+8C>A
c.98605G>T (p.Val32869Phe)
c.72499G>T (p.Val24167Phe)
c.72358G>T (p.Val24120Phe)
c.98401G>T (p.Val32801Phe)
c.93799G>T (p.Val31267Phe)
c.93796G>T (p.Val31266Phe)
c.90838G>T (p.Val30280Phe)
c.72454G>T (p.Val24152Phe)
c.93949G>T (p.Val31317Phe)
c.93946G>T (p.Val31316Phe)
c.93379G>T (p.Val31127Phe)
c.90721G>T (p.Val30241Phe)
c.90640G>T (p.Val30214Phe)
c.72403G>T (p.Val24135Phe)
c.62257G>T (p.Val20753Phe)
2g.178537699C=CA1310515619TTN,TTN-AS1c.91804G= (p.Val30602=)
c.72889G= (p.Val24297=)
c.72688G= (p.Val24230=)
c.72313G= (p.Val24105=)
c.99508G= (p.Val33170=)
c.94585G= (p.Val31529=)
n.446+14063C=
n.647+8C=
c.98605G= (p.Val32869=)
c.72499G= (p.Val24167=)
c.72358G= (p.Val24120=)
c.98401G= (p.Val32801=)
c.93799G= (p.Val31267=)
c.93796G= (p.Val31266=)
c.90838G= (p.Val30280=)
c.72454G= (p.Val24152=)
c.93949G= (p.Val31317=)
c.93946G= (p.Val31316=)
c.93379G= (p.Val31127=)
c.90721G= (p.Val30241=)
c.90640G= (p.Val30214=)
c.72403G= (p.Val24135=)
c.62257G= (p.Val20753=)
2g.178537699C>GCA349428155TTN,TTN-AS1c.91804G>C (p.Val30602Leu)
c.72889G>C (p.Val24297Leu)
c.72688G>C (p.Val24230Leu)
c.72313G>C (p.Val24105Leu)
c.99508G>C (p.Val33170Leu)
c.94585G>C (p.Val31529Leu)
n.446+14063C>G
n.647+8C>G
c.98605G>C (p.Val32869Leu)
c.72499G>C (p.Val24167Leu)
c.72358G>C (p.Val24120Leu)
c.98401G>C (p.Val32801Leu)
c.93799G>C (p.Val31267Leu)
c.93796G>C (p.Val31266Leu)
c.90838G>C (p.Val30280Leu)
c.72454G>C (p.Val24152Leu)
c.93949G>C (p.Val31317Leu)
c.93946G>C (p.Val31316Leu)
c.93379G>C (p.Val31127Leu)
c.90721G>C (p.Val30241Leu)
c.90640G>C (p.Val30214Leu)
c.72403G>C (p.Val24135Leu)
c.62257G>C (p.Val20753Leu)
2g.178537699C>TCA349428157TTN,TTN-AS1c.91804G>A (p.Val30602Ile)
c.72889G>A (p.Val24297Ile)
c.72688G>A (p.Val24230Ile)
c.72313G>A (p.Val24105Ile)
c.99508G>A (p.Val33170Ile)
c.94585G>A (p.Val31529Ile)
n.446+14063C>T
n.647+8C>T
c.98605G>A (p.Val32869Ile)
c.72499G>A (p.Val24167Ile)
c.72358G>A (p.Val24120Ile)
c.98401G>A (p.Val32801Ile)
c.93799G>A (p.Val31267Ile)
c.93796G>A (p.Val31266Ile)
c.90838G>A (p.Val30280Ile)
c.72454G>A (p.Val24152Ile)
c.93949G>A (p.Val31317Ile)
c.93946G>A (p.Val31316Ile)
c.93379G>A (p.Val31127Ile)
c.90721G>A (p.Val30241Ile)
c.90640G>A (p.Val30214Ile)
c.72403G>A (p.Val24135Ile)
c.62257G>A (p.Val20753Ile)
 dbSNP
2g.178537700A=CA1310515621TTN,TTN-AS1c.91803T= (p.Gly30601=)
c.72888T= (p.Gly24296=)
c.72687T= (p.Gly24229=)
c.72312T= (p.Gly24104=)
c.99507T= (p.Gly33169=)
c.94584T= (p.Gly31528=)
n.446+14064A=
n.647+9A=
c.98604T= (p.Gly32868=)
c.72498T= (p.Gly24166=)
c.72357T= (p.Gly24119=)
c.98400T= (p.Gly32800=)
c.93798T= (p.Gly31266=)
c.93795T= (p.Gly31265=)
c.90837T= (p.Gly30279=)
c.72453T= (p.Gly24151=)
c.93948T= (p.Gly31316=)
c.93945T= (p.Gly31315=)
c.93378T= (p.Gly31126=)
c.90720T= (p.Gly30240=)
c.90639T= (p.Gly30213=)
c.72402T= (p.Gly24134=)
c.62256T= (p.Gly20752=)
2g.178537700A>CCA430239116TTN,TTN-AS1c.91803T>G (p.Gly30601=)
c.72888T>G (p.Gly24296=)
c.72687T>G (p.Gly24229=)
c.72312T>G (p.Gly24104=)
c.99507T>G (p.Gly33169=)
c.94584T>G (p.Gly31528=)
n.446+14064A>C
n.647+9A>C
c.98604T>G (p.Gly32868=)
c.72498T>G (p.Gly24166=)
c.72357T>G (p.Gly24119=)
c.98400T>G (p.Gly32800=)
c.93798T>G (p.Gly31266=)
c.93795T>G (p.Gly31265=)
c.90837T>G (p.Gly30279=)
c.72453T>G (p.Gly24151=)
c.93948T>G (p.Gly31316=)
c.93945T>G (p.Gly31315=)
c.93378T>G (p.Gly31126=)
c.90720T>G (p.Gly30240=)
c.90639T>G (p.Gly30213=)
c.72402T>G (p.Gly24134=)
c.62256T>G (p.Gly20752=)
2g.178537700A>GCA430239121TTN,TTN-AS1c.91803T>C (p.Gly30601=)
c.72888T>C (p.Gly24296=)
c.72687T>C (p.Gly24229=)
c.72312T>C (p.Gly24104=)
c.99507T>C (p.Gly33169=)
c.94584T>C (p.Gly31528=)
n.446+14064A>G
n.647+9A>G
c.98604T>C (p.Gly32868=)
c.72498T>C (p.Gly24166=)
c.72357T>C (p.Gly24119=)
c.98400T>C (p.Gly32800=)
c.93798T>C (p.Gly31266=)
c.93795T>C (p.Gly31265=)
c.90837T>C (p.Gly30279=)
c.72453T>C (p.Gly24151=)
c.93948T>C (p.Gly31316=)
c.93945T>C (p.Gly31315=)
c.93378T>C (p.Gly31126=)
c.90720T>C (p.Gly30240=)
c.90639T>C (p.Gly30213=)
c.72402T>C (p.Gly24134=)
c.62256T>C (p.Gly20752=)
 dbSNP
2g.178537700A>TCA430239119TTN,TTN-AS1c.91803T>A (p.Gly30601=)
c.72888T>A (p.Gly24296=)
c.72687T>A (p.Gly24229=)
c.72312T>A (p.Gly24104=)
c.99507T>A (p.Gly33169=)
c.94584T>A (p.Gly31528=)
n.446+14064A>T
n.647+9A>T
c.98604T>A (p.Gly32868=)
c.72498T>A (p.Gly24166=)
c.72357T>A (p.Gly24119=)
c.98400T>A (p.Gly32800=)
c.93798T>A (p.Gly31266=)
c.93795T>A (p.Gly31265=)
c.90837T>A (p.Gly30279=)
c.72453T>A (p.Gly24151=)
c.93948T>A (p.Gly31316=)
c.93945T>A (p.Gly31315=)
c.93378T>A (p.Gly31126=)
c.90720T>A (p.Gly30240=)
c.90639T>A (p.Gly30213=)
c.72402T>A (p.Gly24134=)
c.62256T>A (p.Gly20752=)
2g.178537701C>ACA349428159TTN,TTN-AS1c.91802G>T (p.Gly30601Val)
c.72887G>T (p.Gly24296Val)
c.72686G>T (p.Gly24229Val)
c.72311G>T (p.Gly24104Val)
c.99506G>T (p.Gly33169Val)
c.94583G>T (p.Gly31528Val)
n.446+14065C>A
n.647+10C>A
c.98603G>T (p.Gly32868Val)
c.72497G>T (p.Gly24166Val)
c.72356G>T (p.Gly24119Val)
c.98399G>T (p.Gly32800Val)
c.93797G>T (p.Gly31266Val)
c.93794G>T (p.Gly31265Val)
c.90836G>T (p.Gly30279Val)
c.72452G>T (p.Gly24151Val)
c.93947G>T (p.Gly31316Val)
c.93944G>T (p.Gly31315Val)
c.93377G>T (p.Gly31126Val)
c.90719G>T (p.Gly30240Val)
c.90638G>T (p.Gly30213Val)
c.72401G>T (p.Gly24134Val)
c.62255G>T (p.Gly20752Val)
2g.178537701C=CA1310515622TTN,TTN-AS1c.91802G= (p.Gly30601=)
c.72887G= (p.Gly24296=)
c.72686G= (p.Gly24229=)
c.72311G= (p.Gly24104=)
c.99506G= (p.Gly33169=)
c.94583G= (p.Gly31528=)
n.446+14065C=
n.647+10C=
c.98603G= (p.Gly32868=)
c.72497G= (p.Gly24166=)
c.72356G= (p.Gly24119=)
c.98399G= (p.Gly32800=)
c.93797G= (p.Gly31266=)
c.93794G= (p.Gly31265=)
c.90836G= (p.Gly30279=)
c.72452G= (p.Gly24151=)
c.93947G= (p.Gly31316=)
c.93944G= (p.Gly31315=)
c.93377G= (p.Gly31126=)
c.90719G= (p.Gly30240=)
c.90638G= (p.Gly30213=)
c.72401G= (p.Gly24134=)
c.62255G= (p.Gly20752=)
2g.178537701C>GCA349428161TTN,TTN-AS1c.91802G>C (p.Gly30601Ala)
c.72887G>C (p.Gly24296Ala)
c.72686G>C (p.Gly24229Ala)
c.72311G>C (p.Gly24104Ala)
c.99506G>C (p.Gly33169Ala)
c.94583G>C (p.Gly31528Ala)
n.446+14065C>G
n.647+10C>G
c.98603G>C (p.Gly32868Ala)
c.72497G>C (p.Gly24166Ala)
c.72356G>C (p.Gly24119Ala)
c.98399G>C (p.Gly32800Ala)
c.93797G>C (p.Gly31266Ala)
c.93794G>C (p.Gly31265Ala)
c.90836G>C (p.Gly30279Ala)
c.72452G>C (p.Gly24151Ala)
c.93947G>C (p.Gly31316Ala)
c.93944G>C (p.Gly31315Ala)
c.93377G>C (p.Gly31126Ala)
c.90719G>C (p.Gly30240Ala)
c.90638G>C (p.Gly30213Ala)
c.72401G>C (p.Gly24134Ala)
c.62255G>C (p.Gly20752Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.178537701C>TCA349428162TTN,TTN-AS1c.91802G>A (p.Gly30601Asp)
c.72887G>A (p.Gly24296Asp)
c.72686G>A (p.Gly24229Asp)
c.72311G>A (p.Gly24104Asp)
c.99506G>A (p.Gly33169Asp)
c.94583G>A (p.Gly31528Asp)
n.446+14065C>T
n.647+10C>T
c.98603G>A (p.Gly32868Asp)
c.72497G>A (p.Gly24166Asp)
c.72356G>A (p.Gly24119Asp)
c.98399G>A (p.Gly32800Asp)
c.93797G>A (p.Gly31266Asp)
c.93794G>A (p.Gly31265Asp)
c.90836G>A (p.Gly30279Asp)
c.72452G>A (p.Gly24151Asp)
c.93947G>A (p.Gly31316Asp)
c.93944G>A (p.Gly31315Asp)
c.93377G>A (p.Gly31126Asp)
c.90719G>A (p.Gly30240Asp)
c.90638G>A (p.Gly30213Asp)
c.72401G>A (p.Gly24134Asp)
c.62255G>A (p.Gly20752Asp)
2g.178537702C>ACA349428164TTN,TTN-AS1c.91801G>T (p.Gly30601Cys)
c.72886G>T (p.Gly24296Cys)
c.72685G>T (p.Gly24229Cys)
c.72310G>T (p.Gly24104Cys)
c.99505G>T (p.Gly33169Cys)
c.94582G>T (p.Gly31528Cys)
n.446+14066C>A
n.647+11C>A
c.98602G>T (p.Gly32868Cys)
c.72496G>T (p.Gly24166Cys)
c.72355G>T (p.Gly24119Cys)
c.98398G>T (p.Gly32800Cys)
c.93796G>T (p.Gly31266Cys)
c.93793G>T (p.Gly31265Cys)
c.90835G>T (p.Gly30279Cys)
c.72451G>T (p.Gly24151Cys)
c.93946G>T (p.Gly31316Cys)
c.93943G>T (p.Gly31315Cys)
c.93376G>T (p.Gly31126Cys)
c.90718G>T (p.Gly30240Cys)
c.90637G>T (p.Gly30213Cys)
c.72400G>T (p.Gly24134Cys)
c.62254G>T (p.Gly20752Cys)
2g.178537702C=CA1310515624TTN,TTN-AS1c.91801G= (p.Gly30601=)
c.72886G= (p.Gly24296=)
c.72685G= (p.Gly24229=)
c.72310G= (p.Gly24104=)
c.99505G= (p.Gly33169=)
c.94582G= (p.Gly31528=)
n.446+14066C=
n.647+11C=
c.98602G= (p.Gly32868=)
c.72496G= (p.Gly24166=)
c.72355G= (p.Gly24119=)
c.98398G= (p.Gly32800=)
c.93796G= (p.Gly31266=)
c.93793G= (p.Gly31265=)
c.90835G= (p.Gly30279=)
c.72451G= (p.Gly24151=)
c.93946G= (p.Gly31316=)
c.93943G= (p.Gly31315=)
c.93376G= (p.Gly31126=)
c.90718G= (p.Gly30240=)
c.90637G= (p.Gly30213=)
c.72400G= (p.Gly24134=)
c.62254G= (p.Gly20752=)
2g.178537702C>GCA349428165TTN,TTN-AS1c.91801G>C (p.Gly30601Arg)
c.72886G>C (p.Gly24296Arg)
c.72685G>C (p.Gly24229Arg)
c.72310G>C (p.Gly24104Arg)
c.99505G>C (p.Gly33169Arg)
c.94582G>C (p.Gly31528Arg)
n.446+14066C>G
n.647+11C>G
c.98602G>C (p.Gly32868Arg)
c.72496G>C (p.Gly24166Arg)
c.72355G>C (p.Gly24119Arg)
c.98398G>C (p.Gly32800Arg)
c.93796G>C (p.Gly31266Arg)
c.93793G>C (p.Gly31265Arg)
c.90835G>C (p.Gly30279Arg)
c.72451G>C (p.Gly24151Arg)
c.93946G>C (p.Gly31316Arg)
c.93943G>C (p.Gly31315Arg)
c.93376G>C (p.Gly31126Arg)
c.90718G>C (p.Gly30240Arg)
c.90637G>C (p.Gly30213Arg)
c.72400G>C (p.Gly24134Arg)
c.62254G>C (p.Gly20752Arg)
2g.178537702C>TCA349428167TTN,TTN-AS1c.91801G>A (p.Gly30601Ser)
c.72886G>A (p.Gly24296Ser)
c.72685G>A (p.Gly24229Ser)
c.72310G>A (p.Gly24104Ser)
c.99505G>A (p.Gly33169Ser)
c.94582G>A (p.Gly31528Ser)
n.446+14066C>T
n.647+11C>T
c.98602G>A (p.Gly32868Ser)
c.72496G>A (p.Gly24166Ser)
c.72355G>A (p.Gly24119Ser)
c.98398G>A (p.Gly32800Ser)
c.93796G>A (p.Gly31266Ser)
c.93793G>A (p.Gly31265Ser)
c.90835G>A (p.Gly30279Ser)
c.72451G>A (p.Gly24151Ser)
c.93946G>A (p.Gly31316Ser)
c.93943G>A (p.Gly31315Ser)
c.93376G>A (p.Gly31126Ser)
c.90718G>A (p.Gly30240Ser)
c.90637G>A (p.Gly30213Ser)
c.72400G>A (p.Gly24134Ser)
c.62254G>A (p.Gly20752Ser)
 dbSNP
2g.178537703_178537705delCA2662121403TTN,TTN-AS1c.91799_91801del (p.Glu30600del)
c.72884_72886del (p.Glu24295del)
c.72683_72685del (p.Glu24228del)
c.72308_72310del (p.Glu24103del)
c.99503_99505del (p.Glu33168del)
c.94580_94582del (p.Glu31527del)
n.446+14067_446+14069del
n.647+12_647+14del
c.98600_98602del (p.Glu32867del)
c.72494_72496del (p.Glu24165del)
c.72353_72355del (p.Glu24118del)
c.98396_98398del (p.Glu32799del)
c.93794_93796del (p.Glu31265del)
c.93791_93793del (p.Glu31264del)
c.90833_90835del (p.Glu30278del)
c.72449_72451del (p.Glu24150del)
c.93944_93946del (p.Glu31315del)
c.93941_93943del (p.Glu31314del)
c.93374_93376del (p.Glu31125del)
c.90716_90718del (p.Glu30239del)
c.90635_90637del (p.Glu30212del)
c.72398_72400del (p.Glu24133del)
c.62252_62254del (p.Glu20751del)
 gnomAD v4
2g.178537703T>ACA349428169TTN,TTN-AS1c.91800A>T (p.Glu30600Asp)
c.72885A>T (p.Glu24295Asp)
c.72684A>T (p.Glu24228Asp)
c.72309A>T (p.Glu24103Asp)
c.99504A>T (p.Glu33168Asp)
c.94581A>T (p.Glu31527Asp)
n.446+14067T>A
n.647+12T>A
c.98601A>T (p.Glu32867Asp)
c.72495A>T (p.Glu24165Asp)
c.72354A>T (p.Glu24118Asp)
c.98397A>T (p.Glu32799Asp)
c.93795A>T (p.Glu31265Asp)
c.93792A>T (p.Glu31264Asp)
c.90834A>T (p.Glu30278Asp)
c.72450A>T (p.Glu24150Asp)
c.93945A>T (p.Glu31315Asp)
c.93942A>T (p.Glu31314Asp)
c.93375A>T (p.Glu31125Asp)
c.90717A>T (p.Glu30239Asp)
c.90636A>T (p.Glu30212Asp)
c.72399A>T (p.Glu24133Asp)
c.62253A>T (p.Glu20751Asp)
2g.178537703T>CCA430239125TTN,TTN-AS1c.91800A>G (p.Glu30600=)
c.72885A>G (p.Glu24295=)
c.72684A>G (p.Glu24228=)
c.72309A>G (p.Glu24103=)
c.99504A>G (p.Glu33168=)
c.94581A>G (p.Glu31527=)
n.446+14067T>C
n.647+12T>C
c.98601A>G (p.Glu32867=)
c.72495A>G (p.Glu24165=)
c.72354A>G (p.Glu24118=)
c.98397A>G (p.Glu32799=)
c.93795A>G (p.Glu31265=)
c.93792A>G (p.Glu31264=)
c.90834A>G (p.Glu30278=)
c.72450A>G (p.Glu24150=)
c.93945A>G (p.Glu31315=)
c.93942A>G (p.Glu31314=)
c.93375A>G (p.Glu31125=)
c.90717A>G (p.Glu30239=)
c.90636A>G (p.Glu30212=)
c.72399A>G (p.Glu24133=)
c.62253A>G (p.Glu20751=)
2g.178537703T>GCA349428171TTN,TTN-AS1c.91800A>C (p.Glu30600Asp)
c.72885A>C (p.Glu24295Asp)
c.72684A>C (p.Glu24228Asp)
c.72309A>C (p.Glu24103Asp)
c.99504A>C (p.Glu33168Asp)
c.94581A>C (p.Glu31527Asp)
n.446+14067T>G
n.647+12T>G
c.98601A>C (p.Glu32867Asp)
c.72495A>C (p.Glu24165Asp)
c.72354A>C (p.Glu24118Asp)
c.98397A>C (p.Glu32799Asp)
c.93795A>C (p.Glu31265Asp)
c.93792A>C (p.Glu31264Asp)
c.90834A>C (p.Glu30278Asp)
c.72450A>C (p.Glu24150Asp)
c.93945A>C (p.Glu31315Asp)
c.93942A>C (p.Glu31314Asp)
c.93375A>C (p.Glu31125Asp)
c.90717A>C (p.Glu30239Asp)
c.90636A>C (p.Glu30212Asp)
c.72399A>C (p.Glu24133Asp)
c.62253A>C (p.Glu20751Asp)
2g.178537704T>ACA349428177TTN,TTN-AS1c.91799A>T (p.Glu30600Val)
c.72884A>T (p.Glu24295Val)
c.72683A>T (p.Glu24228Val)
c.72308A>T (p.Glu24103Val)
c.99503A>T (p.Glu33168Val)
c.94580A>T (p.Glu31527Val)
n.446+14068T>A
n.647+13T>A
c.98600A>T (p.Glu32867Val)
c.72494A>T (p.Glu24165Val)
c.72353A>T (p.Glu24118Val)
c.98396A>T (p.Glu32799Val)
c.93794A>T (p.Glu31265Val)
c.93791A>T (p.Glu31264Val)
c.90833A>T (p.Glu30278Val)
c.72449A>T (p.Glu24150Val)
c.93944A>T (p.Glu31315Val)
c.93941A>T (p.Glu31314Val)
c.93374A>T (p.Glu31125Val)
c.90716A>T (p.Glu30239Val)
c.90635A>T (p.Glu30212Val)
c.72398A>T (p.Glu24133Val)
c.62252A>T (p.Glu20751Val)
2g.178537704T>CCA349428175TTN,TTN-AS1c.91799A>G (p.Glu30600Gly)
c.72884A>G (p.Glu24295Gly)
c.72683A>G (p.Glu24228Gly)
c.72308A>G (p.Glu24103Gly)
c.99503A>G (p.Glu33168Gly)
c.94580A>G (p.Glu31527Gly)
n.446+14068T>C
n.647+13T>C
c.98600A>G (p.Glu32867Gly)
c.72494A>G (p.Glu24165Gly)
c.72353A>G (p.Glu24118Gly)
c.98396A>G (p.Glu32799Gly)
c.93794A>G (p.Glu31265Gly)
c.93791A>G (p.Glu31264Gly)
c.90833A>G (p.Glu30278Gly)
c.72449A>G (p.Glu24150Gly)
c.93944A>G (p.Glu31315Gly)
c.93941A>G (p.Glu31314Gly)
c.93374A>G (p.Glu31125Gly)
c.90716A>G (p.Glu30239Gly)
c.90635A>G (p.Glu30212Gly)
c.72398A>G (p.Glu24133Gly)
c.62252A>G (p.Glu20751Gly)
2g.178537704T>GCA349428173TTN,TTN-AS1c.91799A>C (p.Glu30600Ala)
c.72884A>C (p.Glu24295Ala)
c.72683A>C (p.Glu24228Ala)
c.72308A>C (p.Glu24103Ala)
c.99503A>C (p.Glu33168Ala)
c.94580A>C (p.Glu31527Ala)
n.446+14068T>G
n.647+13T>G
c.98600A>C (p.Glu32867Ala)
c.72494A>C (p.Glu24165Ala)
c.72353A>C (p.Glu24118Ala)
c.98396A>C (p.Glu32799Ala)
c.93794A>C (p.Glu31265Ala)
c.93791A>C (p.Glu31264Ala)
c.90833A>C (p.Glu30278Ala)
c.72449A>C (p.Glu24150Ala)
c.93944A>C (p.Glu31315Ala)
c.93941A>C (p.Glu31314Ala)
c.93374A>C (p.Glu31125Ala)
c.90716A>C (p.Glu30239Ala)
c.90635A>C (p.Glu30212Ala)
c.72398A>C (p.Glu24133Ala)
c.62252A>C (p.Glu20751Ala)

Number of alleles fetched