Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178560066_178564516delCA915942193TTN,TTN-AS1c.73914_78364del (p.Val24639GlnfsTer4)
c.54999_59449del (p.Val18334GlnfsTer4)
c.54798_59248del (p.Val18267GlnfsTer4)
c.54423_58873del (p.Val18142GlnfsTer4)
c.81618_86068del (p.Val27207GlnfsTer4)
c.76695_81145del (p.Val25566GlnfsTer4)
n.447-11234_447-6784del
n.2043+17705_2044-18056del
c.80715_85165del (p.Val26906GlnfsTer4)
c.54609_59059del (p.Val18204GlnfsTer4)
c.54468_58918del (p.Val18157GlnfsTer4)
c.80511_84961del (p.Val26838GlnfsTer4)
c.75909_80359del (p.Val25304GlnfsTer4)
c.75906_80356del (p.Val25303GlnfsTer4)
c.72948_77398del (p.Val24317GlnfsTer4)
c.54564_59014del (p.Val18189GlnfsTer4)
c.76059_80509del (p.Val25354GlnfsTer4)
c.76056_80506del (p.Val25353GlnfsTer4)
c.75489_79939del (p.Val25164GlnfsTer4)
c.72831_77281del (p.Val24278GlnfsTer4)
c.72750_77200del (p.Val24251GlnfsTer4)
c.54513_58963del (p.Val18172GlnfsTer4)
c.44367_48817del (p.Val14790GlnfsTer4)
 ClinVar
2g.178564505_178564508delCA2740095913TTN,TTN-AS1c.73925_73928del (p.Lys24642IlefsTer8)
c.55010_55013del (p.Lys18337IlefsTer8)
c.54809_54812del (p.Lys18270IlefsTer8)
c.54434_54437del (p.Lys18145IlefsTer8)
c.81629_81632del (p.Lys27210IlefsTer8)
c.76706_76709del (p.Lys25569IlefsTer8)
n.447-6795_447-6792del
n.2044-18067_2044-18064del
c.80726_80729del (p.Lys26909IlefsTer8)
c.54620_54623del (p.Lys18207IlefsTer8)
c.54479_54482del (p.Lys18160IlefsTer8)
c.80522_80525del (p.Lys26841IlefsTer8)
c.75920_75923del (p.Lys25307IlefsTer8)
c.75917_75920del (p.Lys25306IlefsTer8)
c.72959_72962del (p.Lys24320IlefsTer8)
c.54575_54578del (p.Lys18192IlefsTer8)
c.76070_76073del (p.Lys25357IlefsTer8)
c.76067_76070del (p.Lys25356IlefsTer8)
c.75500_75503del (p.Lys25167IlefsTer8)
c.72842_72845del (p.Lys24281IlefsTer8)
c.72761_72764del (p.Lys24254IlefsTer8)
c.54524_54527del (p.Lys18175IlefsTer8)
c.44378_44381del (p.Lys14793IlefsTer8)
 ClinVar
2g.178564505C>ACA349581099TTN,TTN-AS1c.73923G>T (p.Lys24641Asn)
c.55008G>T (p.Lys18336Asn)
c.54807G>T (p.Lys18269Asn)
c.54432G>T (p.Lys18144Asn)
c.81627G>T (p.Lys27209Asn)
c.76704G>T (p.Lys25568Asn)
n.447-6795C>A
n.2044-18067C>A
c.80724G>T (p.Lys26908Asn)
c.54618G>T (p.Lys18206Asn)
c.54477G>T (p.Lys18159Asn)
c.80520G>T (p.Lys26840Asn)
c.75918G>T (p.Lys25306Asn)
c.75915G>T (p.Lys25305Asn)
c.72957G>T (p.Lys24319Asn)
c.54573G>T (p.Lys18191Asn)
c.76068G>T (p.Lys25356Asn)
c.76065G>T (p.Lys25355Asn)
c.75498G>T (p.Lys25166Asn)
c.72840G>T (p.Lys24280Asn)
c.72759G>T (p.Lys24253Asn)
c.54522G>T (p.Lys18174Asn)
c.44376G>T (p.Lys14792Asn)
 gnomAD v4
2g.178564505C>GCA349581100TTN,TTN-AS1c.73923G>C (p.Lys24641Asn)
c.55008G>C (p.Lys18336Asn)
c.54807G>C (p.Lys18269Asn)
c.54432G>C (p.Lys18144Asn)
c.81627G>C (p.Lys27209Asn)
c.76704G>C (p.Lys25568Asn)
n.447-6795C>G
n.2044-18067C>G
c.80724G>C (p.Lys26908Asn)
c.54618G>C (p.Lys18206Asn)
c.54477G>C (p.Lys18159Asn)
c.80520G>C (p.Lys26840Asn)
c.75918G>C (p.Lys25306Asn)
c.75915G>C (p.Lys25305Asn)
c.72957G>C (p.Lys24319Asn)
c.54573G>C (p.Lys18191Asn)
c.76068G>C (p.Lys25356Asn)
c.76065G>C (p.Lys25355Asn)
c.75498G>C (p.Lys25166Asn)
c.72840G>C (p.Lys24280Asn)
c.72759G>C (p.Lys24253Asn)
c.54522G>C (p.Lys18174Asn)
c.44376G>C (p.Lys14792Asn)
2g.178564505C>TCA430250981TTN,TTN-AS1c.73923G>A (p.Lys24641=)
c.55008G>A (p.Lys18336=)
c.54807G>A (p.Lys18269=)
c.54432G>A (p.Lys18144=)
c.81627G>A (p.Lys27209=)
c.76704G>A (p.Lys25568=)
n.447-6795C>T
n.2044-18067C>T
c.80724G>A (p.Lys26908=)
c.54618G>A (p.Lys18206=)
c.54477G>A (p.Lys18159=)
c.80520G>A (p.Lys26840=)
c.75918G>A (p.Lys25306=)
c.75915G>A (p.Lys25305=)
c.72957G>A (p.Lys24319=)
c.54573G>A (p.Lys18191=)
c.76068G>A (p.Lys25356=)
c.76065G>A (p.Lys25355=)
c.75498G>A (p.Lys25166=)
c.72840G>A (p.Lys24280=)
c.72759G>A (p.Lys24253=)
c.54522G>A (p.Lys18174=)
c.44376G>A (p.Lys14792=)
2g.178564506T>ACA349581101TTN,TTN-AS1c.73922A>T (p.Lys24641Met)
c.55007A>T (p.Lys18336Met)
c.54806A>T (p.Lys18269Met)
c.54431A>T (p.Lys18144Met)
c.81626A>T (p.Lys27209Met)
c.76703A>T (p.Lys25568Met)
n.447-6794T>A
n.2044-18066T>A
c.80723A>T (p.Lys26908Met)
c.54617A>T (p.Lys18206Met)
c.54476A>T (p.Lys18159Met)
c.80519A>T (p.Lys26840Met)
c.75917A>T (p.Lys25306Met)
c.75914A>T (p.Lys25305Met)
c.72956A>T (p.Lys24319Met)
c.54572A>T (p.Lys18191Met)
c.76067A>T (p.Lys25356Met)
c.76064A>T (p.Lys25355Met)
c.75497A>T (p.Lys25166Met)
c.72839A>T (p.Lys24280Met)
c.72758A>T (p.Lys24253Met)
c.54521A>T (p.Lys18174Met)
c.44375A>T (p.Lys14792Met)
2g.178564506T>CCA349581103TTN,TTN-AS1c.73922A>G (p.Lys24641Arg)
c.55007A>G (p.Lys18336Arg)
c.54806A>G (p.Lys18269Arg)
c.54431A>G (p.Lys18144Arg)
c.81626A>G (p.Lys27209Arg)
c.76703A>G (p.Lys25568Arg)
n.447-6794T>C
n.2044-18066T>C
c.80723A>G (p.Lys26908Arg)
c.54617A>G (p.Lys18206Arg)
c.54476A>G (p.Lys18159Arg)
c.80519A>G (p.Lys26840Arg)
c.75917A>G (p.Lys25306Arg)
c.75914A>G (p.Lys25305Arg)
c.72956A>G (p.Lys24319Arg)
c.54572A>G (p.Lys18191Arg)
c.76067A>G (p.Lys25356Arg)
c.76064A>G (p.Lys25355Arg)
c.75497A>G (p.Lys25166Arg)
c.72839A>G (p.Lys24280Arg)
c.72758A>G (p.Lys24253Arg)
c.54521A>G (p.Lys18174Arg)
c.44375A>G (p.Lys14792Arg)
 gnomAD v4
2g.178564506T>GCA349581102TTN,TTN-AS1c.73922A>C (p.Lys24641Thr)
c.55007A>C (p.Lys18336Thr)
c.54806A>C (p.Lys18269Thr)
c.54431A>C (p.Lys18144Thr)
c.81626A>C (p.Lys27209Thr)
c.76703A>C (p.Lys25568Thr)
n.447-6794T>G
n.2044-18066T>G
c.80723A>C (p.Lys26908Thr)
c.54617A>C (p.Lys18206Thr)
c.54476A>C (p.Lys18159Thr)
c.80519A>C (p.Lys26840Thr)
c.75917A>C (p.Lys25306Thr)
c.75914A>C (p.Lys25305Thr)
c.72956A>C (p.Lys24319Thr)
c.54572A>C (p.Lys18191Thr)
c.76067A>C (p.Lys25356Thr)
c.76064A>C (p.Lys25355Thr)
c.75497A>C (p.Lys25166Thr)
c.72839A>C (p.Lys24280Thr)
c.72758A>C (p.Lys24253Thr)
c.54521A>C (p.Lys18174Thr)
c.44375A>C (p.Lys14792Thr)
2g.178564507T>ACA349581104TTN,TTN-AS1c.73921A>T (p.Lys24641Ter)
c.55006A>T (p.Lys18336Ter)
c.54805A>T (p.Lys18269Ter)
c.54430A>T (p.Lys18144Ter)
c.81625A>T (p.Lys27209Ter)
c.76702A>T (p.Lys25568Ter)
n.447-6793T>A
n.2044-18065T>A
c.80722A>T (p.Lys26908Ter)
c.54616A>T (p.Lys18206Ter)
c.54475A>T (p.Lys18159Ter)
c.80518A>T (p.Lys26840Ter)
c.75916A>T (p.Lys25306Ter)
c.75913A>T (p.Lys25305Ter)
c.72955A>T (p.Lys24319Ter)
c.54571A>T (p.Lys18191Ter)
c.76066A>T (p.Lys25356Ter)
c.76063A>T (p.Lys25355Ter)
c.75496A>T (p.Lys25166Ter)
c.72838A>T (p.Lys24280Ter)
c.72757A>T (p.Lys24253Ter)
c.54520A>T (p.Lys18174Ter)
c.44374A>T (p.Lys14792Ter)
2g.178564507T>CCA349581105TTN,TTN-AS1c.73921A>G (p.Lys24641Glu)
c.55006A>G (p.Lys18336Glu)
c.54805A>G (p.Lys18269Glu)
c.54430A>G (p.Lys18144Glu)
c.81625A>G (p.Lys27209Glu)
c.76702A>G (p.Lys25568Glu)
n.447-6793T>C
n.2044-18065T>C
c.80722A>G (p.Lys26908Glu)
c.54616A>G (p.Lys18206Glu)
c.54475A>G (p.Lys18159Glu)
c.80518A>G (p.Lys26840Glu)
c.75916A>G (p.Lys25306Glu)
c.75913A>G (p.Lys25305Glu)
c.72955A>G (p.Lys24319Glu)
c.54571A>G (p.Lys18191Glu)
c.76066A>G (p.Lys25356Glu)
c.76063A>G (p.Lys25355Glu)
c.75496A>G (p.Lys25166Glu)
c.72838A>G (p.Lys24280Glu)
c.72757A>G (p.Lys24253Glu)
c.54520A>G (p.Lys18174Glu)
c.44374A>G (p.Lys14792Glu)
 COSMIC COSMIC COSMIC COSMIC
2g.178564507T>GCA349581106TTN,TTN-AS1c.73921A>C (p.Lys24641Gln)
c.55006A>C (p.Lys18336Gln)
c.54805A>C (p.Lys18269Gln)
c.54430A>C (p.Lys18144Gln)
c.81625A>C (p.Lys27209Gln)
c.76702A>C (p.Lys25568Gln)
n.447-6793T>G
n.2044-18065T>G
c.80722A>C (p.Lys26908Gln)
c.54616A>C (p.Lys18206Gln)
c.54475A>C (p.Lys18159Gln)
c.80518A>C (p.Lys26840Gln)
c.75916A>C (p.Lys25306Gln)
c.75913A>C (p.Lys25305Gln)
c.72955A>C (p.Lys24319Gln)
c.54571A>C (p.Lys18191Gln)
c.76066A>C (p.Lys25356Gln)
c.76063A>C (p.Lys25355Gln)
c.75496A>C (p.Lys25166Gln)
c.72838A>C (p.Lys24280Gln)
c.72757A>C (p.Lys24253Gln)
c.54520A>C (p.Lys18174Gln)
c.44374A>C (p.Lys14792Gln)
2g.178564508T>ACA349581107TTN,TTN-AS1c.73920A>T (p.Glu24640Asp)
c.55005A>T (p.Glu18335Asp)
c.54804A>T (p.Glu18268Asp)
c.54429A>T (p.Glu18143Asp)
c.81624A>T (p.Glu27208Asp)
c.76701A>T (p.Glu25567Asp)
n.447-6792T>A
n.2044-18064T>A
c.80721A>T (p.Glu26907Asp)
c.54615A>T (p.Glu18205Asp)
c.54474A>T (p.Glu18158Asp)
c.80517A>T (p.Glu26839Asp)
c.75915A>T (p.Glu25305Asp)
c.75912A>T (p.Glu25304Asp)
c.72954A>T (p.Glu24318Asp)
c.54570A>T (p.Glu18190Asp)
c.76065A>T (p.Glu25355Asp)
c.76062A>T (p.Glu25354Asp)
c.75495A>T (p.Glu25165Asp)
c.72837A>T (p.Glu24279Asp)
c.72756A>T (p.Glu24252Asp)
c.54519A>T (p.Glu18173Asp)
c.44373A>T (p.Glu14791Asp)
2g.178564508T>CCA430250984TTN,TTN-AS1c.73920A>G (p.Glu24640=)
c.55005A>G (p.Glu18335=)
c.54804A>G (p.Glu18268=)
c.54429A>G (p.Glu18143=)
c.81624A>G (p.Glu27208=)
c.76701A>G (p.Glu25567=)
n.447-6792T>C
n.2044-18064T>C
c.80721A>G (p.Glu26907=)
c.54615A>G (p.Glu18205=)
c.54474A>G (p.Glu18158=)
c.80517A>G (p.Glu26839=)
c.75915A>G (p.Glu25305=)
c.75912A>G (p.Glu25304=)
c.72954A>G (p.Glu24318=)
c.54570A>G (p.Glu18190=)
c.76065A>G (p.Glu25355=)
c.76062A>G (p.Glu25354=)
c.75495A>G (p.Glu25165=)
c.72837A>G (p.Glu24279=)
c.72756A>G (p.Glu24252=)
c.54519A>G (p.Glu18173=)
c.44373A>G (p.Glu14791=)
2g.178564508T>GCA349581108TTN,TTN-AS1c.73920A>C (p.Glu24640Asp)
c.55005A>C (p.Glu18335Asp)
c.54804A>C (p.Glu18268Asp)
c.54429A>C (p.Glu18143Asp)
c.81624A>C (p.Glu27208Asp)
c.76701A>C (p.Glu25567Asp)
n.447-6792T>G
n.2044-18064T>G
c.80721A>C (p.Glu26907Asp)
c.54615A>C (p.Glu18205Asp)
c.54474A>C (p.Glu18158Asp)
c.80517A>C (p.Glu26839Asp)
c.75915A>C (p.Glu25305Asp)
c.75912A>C (p.Glu25304Asp)
c.72954A>C (p.Glu24318Asp)
c.54570A>C (p.Glu18190Asp)
c.76065A>C (p.Glu25355Asp)
c.76062A>C (p.Glu25354Asp)
c.75495A>C (p.Glu25165Asp)
c.72837A>C (p.Glu24279Asp)
c.72756A>C (p.Glu24252Asp)
c.54519A>C (p.Glu18173Asp)
c.44373A>C (p.Glu14791Asp)
 gnomAD v4
2g.178564509T>ACA349581109TTN,TTN-AS1c.73919A>T (p.Glu24640Val)
c.55004A>T (p.Glu18335Val)
c.54803A>T (p.Glu18268Val)
c.54428A>T (p.Glu18143Val)
c.81623A>T (p.Glu27208Val)
c.76700A>T (p.Glu25567Val)
n.447-6791T>A
n.2044-18063T>A
c.80720A>T (p.Glu26907Val)
c.54614A>T (p.Glu18205Val)
c.54473A>T (p.Glu18158Val)
c.80516A>T (p.Glu26839Val)
c.75914A>T (p.Glu25305Val)
c.75911A>T (p.Glu25304Val)
c.72953A>T (p.Glu24318Val)
c.54569A>T (p.Glu18190Val)
c.76064A>T (p.Glu25355Val)
c.76061A>T (p.Glu25354Val)
c.75494A>T (p.Glu25165Val)
c.72836A>T (p.Glu24279Val)
c.72755A>T (p.Glu24252Val)
c.54518A>T (p.Glu18173Val)
c.44372A>T (p.Glu14791Val)
2g.178564509T>CCA349581110TTN,TTN-AS1c.73919A>G (p.Glu24640Gly)
c.55004A>G (p.Glu18335Gly)
c.54803A>G (p.Glu18268Gly)
c.54428A>G (p.Glu18143Gly)
c.81623A>G (p.Glu27208Gly)
c.76700A>G (p.Glu25567Gly)
n.447-6791T>C
n.2044-18063T>C
c.80720A>G (p.Glu26907Gly)
c.54614A>G (p.Glu18205Gly)
c.54473A>G (p.Glu18158Gly)
c.80516A>G (p.Glu26839Gly)
c.75914A>G (p.Glu25305Gly)
c.75911A>G (p.Glu25304Gly)
c.72953A>G (p.Glu24318Gly)
c.54569A>G (p.Glu18190Gly)
c.76064A>G (p.Glu25355Gly)
c.76061A>G (p.Glu25354Gly)
c.75494A>G (p.Glu25165Gly)
c.72836A>G (p.Glu24279Gly)
c.72755A>G (p.Glu24252Gly)
c.54518A>G (p.Glu18173Gly)
c.44372A>G (p.Glu14791Gly)
2g.178564509T>GCA349581111TTN,TTN-AS1c.73919A>C (p.Glu24640Ala)
c.55004A>C (p.Glu18335Ala)
c.54803A>C (p.Glu18268Ala)
c.54428A>C (p.Glu18143Ala)
c.81623A>C (p.Glu27208Ala)
c.76700A>C (p.Glu25567Ala)
n.447-6791T>G
n.2044-18063T>G
c.80720A>C (p.Glu26907Ala)
c.54614A>C (p.Glu18205Ala)
c.54473A>C (p.Glu18158Ala)
c.80516A>C (p.Glu26839Ala)
c.75914A>C (p.Glu25305Ala)
c.75911A>C (p.Glu25304Ala)
c.72953A>C (p.Glu24318Ala)
c.54569A>C (p.Glu18190Ala)
c.76064A>C (p.Glu25355Ala)
c.76061A>C (p.Glu25354Ala)
c.75494A>C (p.Glu25165Ala)
c.72836A>C (p.Glu24279Ala)
c.72755A>C (p.Glu24252Ala)
c.54518A>C (p.Glu18173Ala)
c.44372A>C (p.Glu14791Ala)
2g.178564510C>ACA349581112TTN,TTN-AS1c.73918G>T (p.Glu24640Ter)
c.55003G>T (p.Glu18335Ter)
c.54802G>T (p.Glu18268Ter)
c.54427G>T (p.Glu18143Ter)
c.81622G>T (p.Glu27208Ter)
c.76699G>T (p.Glu25567Ter)
n.447-6790C>A
n.2044-18062C>A
c.80719G>T (p.Glu26907Ter)
c.54613G>T (p.Glu18205Ter)
c.54472G>T (p.Glu18158Ter)
c.80515G>T (p.Glu26839Ter)
c.75913G>T (p.Glu25305Ter)
c.75910G>T (p.Glu25304Ter)
c.72952G>T (p.Glu24318Ter)
c.54568G>T (p.Glu18190Ter)
c.76063G>T (p.Glu25355Ter)
c.76060G>T (p.Glu25354Ter)
c.75493G>T (p.Glu25165Ter)
c.72835G>T (p.Glu24279Ter)
c.72754G>T (p.Glu24252Ter)
c.54517G>T (p.Glu18173Ter)
c.44371G>T (p.Glu14791Ter)
2g.178564510C>GCA349581113TTN,TTN-AS1c.73918G>C (p.Glu24640Gln)
c.55003G>C (p.Glu18335Gln)
c.54802G>C (p.Glu18268Gln)
c.54427G>C (p.Glu18143Gln)
c.81622G>C (p.Glu27208Gln)
c.76699G>C (p.Glu25567Gln)
n.447-6790C>G
n.2044-18062C>G
c.80719G>C (p.Glu26907Gln)
c.54613G>C (p.Glu18205Gln)
c.54472G>C (p.Glu18158Gln)
c.80515G>C (p.Glu26839Gln)
c.75913G>C (p.Glu25305Gln)
c.75910G>C (p.Glu25304Gln)
c.72952G>C (p.Glu24318Gln)
c.54568G>C (p.Glu18190Gln)
c.76063G>C (p.Glu25355Gln)
c.76060G>C (p.Glu25354Gln)
c.75493G>C (p.Glu25165Gln)
c.72835G>C (p.Glu24279Gln)
c.72754G>C (p.Glu24252Gln)
c.54517G>C (p.Glu18173Gln)
c.44371G>C (p.Glu14791Gln)
2g.178564510C>TCA349581114TTN,TTN-AS1c.73918G>A (p.Glu24640Lys)
c.55003G>A (p.Glu18335Lys)
c.54802G>A (p.Glu18268Lys)
c.54427G>A (p.Glu18143Lys)
c.81622G>A (p.Glu27208Lys)
c.76699G>A (p.Glu25567Lys)
n.447-6790C>T
n.2044-18062C>T
c.80719G>A (p.Glu26907Lys)
c.54613G>A (p.Glu18205Lys)
c.54472G>A (p.Glu18158Lys)
c.80515G>A (p.Glu26839Lys)
c.75913G>A (p.Glu25305Lys)
c.75910G>A (p.Glu25304Lys)
c.72952G>A (p.Glu24318Lys)
c.54568G>A (p.Glu18190Lys)
c.76063G>A (p.Glu25355Lys)
c.76060G>A (p.Glu25354Lys)
c.75493G>A (p.Glu25165Lys)
c.72835G>A (p.Glu24279Lys)
c.72754G>A (p.Glu24252Lys)
c.54517G>A (p.Glu18173Lys)
c.44371G>A (p.Glu14791Lys)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178564511T>ACA430250985TTN,TTN-AS1c.73917A>T (p.Val24639=)
c.55002A>T (p.Val18334=)
c.54801A>T (p.Val18267=)
c.54426A>T (p.Val18142=)
c.81621A>T (p.Val27207=)
c.76698A>T (p.Val25566=)
n.447-6789T>A
n.2044-18061T>A
c.80718A>T (p.Val26906=)
c.54612A>T (p.Val18204=)
c.54471A>T (p.Val18157=)
c.80514A>T (p.Val26838=)
c.75912A>T (p.Val25304=)
c.75909A>T (p.Val25303=)
c.72951A>T (p.Val24317=)
c.54567A>T (p.Val18189=)
c.76062A>T (p.Val25354=)
c.76059A>T (p.Val25353=)
c.75492A>T (p.Val25164=)
c.72834A>T (p.Val24278=)
c.72753A>T (p.Val24251=)
c.54516A>T (p.Val18172=)
c.44370A>T (p.Val14790=)
2g.178564511T>CCA430250986TTN,TTN-AS1c.73917A>G (p.Val24639=)
c.55002A>G (p.Val18334=)
c.54801A>G (p.Val18267=)
c.54426A>G (p.Val18142=)
c.81621A>G (p.Val27207=)
c.76698A>G (p.Val25566=)
n.447-6789T>C
n.2044-18061T>C
c.80718A>G (p.Val26906=)
c.54612A>G (p.Val18204=)
c.54471A>G (p.Val18157=)
c.80514A>G (p.Val26838=)
c.75912A>G (p.Val25304=)
c.75909A>G (p.Val25303=)
c.72951A>G (p.Val24317=)
c.54567A>G (p.Val18189=)
c.76062A>G (p.Val25354=)
c.76059A>G (p.Val25353=)
c.75492A>G (p.Val25164=)
c.72834A>G (p.Val24278=)
c.72753A>G (p.Val24251=)
c.54516A>G (p.Val18172=)
c.44370A>G (p.Val14790=)
2g.178564511T>GCA430250987TTN,TTN-AS1c.73917A>C (p.Val24639=)
c.55002A>C (p.Val18334=)
c.54801A>C (p.Val18267=)
c.54426A>C (p.Val18142=)
c.81621A>C (p.Val27207=)
c.76698A>C (p.Val25566=)
n.447-6789T>G
n.2044-18061T>G
c.80718A>C (p.Val26906=)
c.54612A>C (p.Val18204=)
c.54471A>C (p.Val18157=)
c.80514A>C (p.Val26838=)
c.75912A>C (p.Val25304=)
c.75909A>C (p.Val25303=)
c.72951A>C (p.Val24317=)
c.54567A>C (p.Val18189=)
c.76062A>C (p.Val25354=)
c.76059A>C (p.Val25353=)
c.75492A>C (p.Val25164=)
c.72834A>C (p.Val24278=)
c.72753A>C (p.Val24251=)
c.54516A>C (p.Val18172=)
c.44370A>C (p.Val14790=)
2g.178564512A=CA1310528280TTN,TTN-AS1c.73916T= (p.Val24639=)
c.55001T= (p.Val18334=)
c.54800T= (p.Val18267=)
c.54425T= (p.Val18142=)
c.81620T= (p.Val27207=)
c.76697T= (p.Val25566=)
n.447-6788A=
n.2044-18060A=
c.80717T= (p.Val26906=)
c.54611T= (p.Val18204=)
c.54470T= (p.Val18157=)
c.80513T= (p.Val26838=)
c.75911T= (p.Val25304=)
c.75908T= (p.Val25303=)
c.72950T= (p.Val24317=)
c.54566T= (p.Val18189=)
c.76061T= (p.Val25354=)
c.76058T= (p.Val25353=)
c.75491T= (p.Val25164=)
c.72833T= (p.Val24278=)
c.72752T= (p.Val24251=)
c.54515T= (p.Val18172=)
c.44369T= (p.Val14790=)
2g.178564512A>CCA349581116TTN,TTN-AS1c.73916T>G (p.Val24639Gly)
c.55001T>G (p.Val18334Gly)
c.54800T>G (p.Val18267Gly)
c.54425T>G (p.Val18142Gly)
c.81620T>G (p.Val27207Gly)
c.76697T>G (p.Val25566Gly)
n.447-6788A>C
n.2044-18060A>C
c.80717T>G (p.Val26906Gly)
c.54611T>G (p.Val18204Gly)
c.54470T>G (p.Val18157Gly)
c.80513T>G (p.Val26838Gly)
c.75911T>G (p.Val25304Gly)
c.75908T>G (p.Val25303Gly)
c.72950T>G (p.Val24317Gly)
c.54566T>G (p.Val18189Gly)
c.76061T>G (p.Val25354Gly)
c.76058T>G (p.Val25353Gly)
c.75491T>G (p.Val25164Gly)
c.72833T>G (p.Val24278Gly)
c.72752T>G (p.Val24251Gly)
c.54515T>G (p.Val18172Gly)
c.44369T>G (p.Val14790Gly)
2g.178564512A>GCA1989179TTN,TTN-AS1c.73916T>C (p.Val24639Ala)
c.55001T>C (p.Val18334Ala)
c.54800T>C (p.Val18267Ala)
c.54425T>C (p.Val18142Ala)
c.81620T>C (p.Val27207Ala)
c.76697T>C (p.Val25566Ala)
n.447-6788A>G
n.2044-18060A>G
c.80717T>C (p.Val26906Ala)
c.54611T>C (p.Val18204Ala)
c.54470T>C (p.Val18157Ala)
c.80513T>C (p.Val26838Ala)
c.75911T>C (p.Val25304Ala)
c.75908T>C (p.Val25303Ala)
c.72950T>C (p.Val24317Ala)
c.54566T>C (p.Val18189Ala)
c.76061T>C (p.Val25354Ala)
c.76058T>C (p.Val25353Ala)
c.75491T>C (p.Val25164Ala)
c.72833T>C (p.Val24278Ala)
c.72752T>C (p.Val24251Ala)
c.54515T>C (p.Val18172Ala)
c.44369T>C (p.Val14790Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178564512A>TCA349581115TTN,TTN-AS1c.73916T>A (p.Val24639Glu)
c.55001T>A (p.Val18334Glu)
c.54800T>A (p.Val18267Glu)
c.54425T>A (p.Val18142Glu)
c.81620T>A (p.Val27207Glu)
c.76697T>A (p.Val25566Glu)
n.447-6788A>T
n.2044-18060A>T
c.80717T>A (p.Val26906Glu)
c.54611T>A (p.Val18204Glu)
c.54470T>A (p.Val18157Glu)
c.80513T>A (p.Val26838Glu)
c.75911T>A (p.Val25304Glu)
c.75908T>A (p.Val25303Glu)
c.72950T>A (p.Val24317Glu)
c.54566T>A (p.Val18189Glu)
c.76061T>A (p.Val25354Glu)
c.76058T>A (p.Val25353Glu)
c.75491T>A (p.Val25164Glu)
c.72833T>A (p.Val24278Glu)
c.72752T>A (p.Val24251Glu)
c.54515T>A (p.Val18172Glu)
c.44369T>A (p.Val14790Glu)
2g.178564513C>ACA349581117TTN,TTN-AS1c.73915G>T (p.Val24639Leu)
c.55000G>T (p.Val18334Leu)
c.54799G>T (p.Val18267Leu)
c.54424G>T (p.Val18142Leu)
c.81619G>T (p.Val27207Leu)
c.76696G>T (p.Val25566Leu)
n.447-6787C>A
n.2044-18059C>A
c.80716G>T (p.Val26906Leu)
c.54610G>T (p.Val18204Leu)
c.54469G>T (p.Val18157Leu)
c.80512G>T (p.Val26838Leu)
c.75910G>T (p.Val25304Leu)
c.75907G>T (p.Val25303Leu)
c.72949G>T (p.Val24317Leu)
c.54565G>T (p.Val18189Leu)
c.76060G>T (p.Val25354Leu)
c.76057G>T (p.Val25353Leu)
c.75490G>T (p.Val25164Leu)
c.72832G>T (p.Val24278Leu)
c.72751G>T (p.Val24251Leu)
c.54514G>T (p.Val18172Leu)
c.44368G>T (p.Val14790Leu)
2g.178564513C=CA1310528281TTN,TTN-AS1c.73915G= (p.Val24639=)
c.55000G= (p.Val18334=)
c.54799G= (p.Val18267=)
c.54424G= (p.Val18142=)
c.81619G= (p.Val27207=)
c.76696G= (p.Val25566=)
n.447-6787C=
n.2044-18059C=
c.80716G= (p.Val26906=)
c.54610G= (p.Val18204=)
c.54469G= (p.Val18157=)
c.80512G= (p.Val26838=)
c.75910G= (p.Val25304=)
c.75907G= (p.Val25303=)
c.72949G= (p.Val24317=)
c.54565G= (p.Val18189=)
c.76060G= (p.Val25354=)
c.76057G= (p.Val25353=)
c.75490G= (p.Val25164=)
c.72832G= (p.Val24278=)
c.72751G= (p.Val24251=)
c.54514G= (p.Val18172=)
c.44368G= (p.Val14790=)
2g.178564513C>GCA349581119TTN,TTN-AS1c.73915G>C (p.Val24639Leu)
c.55000G>C (p.Val18334Leu)
c.54799G>C (p.Val18267Leu)
c.54424G>C (p.Val18142Leu)
c.81619G>C (p.Val27207Leu)
c.76696G>C (p.Val25566Leu)
n.447-6787C>G
n.2044-18059C>G
c.80716G>C (p.Val26906Leu)
c.54610G>C (p.Val18204Leu)
c.54469G>C (p.Val18157Leu)
c.80512G>C (p.Val26838Leu)
c.75910G>C (p.Val25304Leu)
c.75907G>C (p.Val25303Leu)
c.72949G>C (p.Val24317Leu)
c.54565G>C (p.Val18189Leu)
c.76060G>C (p.Val25354Leu)
c.76057G>C (p.Val25353Leu)
c.75490G>C (p.Val25164Leu)
c.72832G>C (p.Val24278Leu)
c.72751G>C (p.Val24251Leu)
c.54514G>C (p.Val18172Leu)
c.44368G>C (p.Val14790Leu)
2g.178564513C>TCA349581118TTN,TTN-AS1c.73915G>A (p.Val24639Ile)
c.55000G>A (p.Val18334Ile)
c.54799G>A (p.Val18267Ile)
c.54424G>A (p.Val18142Ile)
c.81619G>A (p.Val27207Ile)
c.76696G>A (p.Val25566Ile)
n.447-6787C>T
n.2044-18059C>T
c.80716G>A (p.Val26906Ile)
c.54610G>A (p.Val18204Ile)
c.54469G>A (p.Val18157Ile)
c.80512G>A (p.Val26838Ile)
c.75910G>A (p.Val25304Ile)
c.75907G>A (p.Val25303Ile)
c.72949G>A (p.Val24317Ile)
c.54565G>A (p.Val18189Ile)
c.76060G>A (p.Val25354Ile)
c.76057G>A (p.Val25353Ile)
c.75490G>A (p.Val25164Ile)
c.72832G>A (p.Val24278Ile)
c.72751G>A (p.Val24251Ile)
c.54514G>A (p.Val18172Ile)
c.44368G>A (p.Val14790Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.178564514A=CA1310528283TTN,TTN-AS1c.73914T= (p.Ile24638=)
c.54999T= (p.Ile18333=)
c.54798T= (p.Ile18266=)
c.54423T= (p.Ile18141=)
c.81618T= (p.Ile27206=)
c.76695T= (p.Ile25565=)
n.447-6786A=
n.2044-18058A=
c.80715T= (p.Ile26905=)
c.54609T= (p.Ile18203=)
c.54468T= (p.Ile18156=)
c.80511T= (p.Ile26837=)
c.75909T= (p.Ile25303=)
c.75906T= (p.Ile25302=)
c.72948T= (p.Ile24316=)
c.54564T= (p.Ile18188=)
c.76059T= (p.Ile25353=)
c.76056T= (p.Ile25352=)
c.75489T= (p.Ile25163=)
c.72831T= (p.Ile24277=)
c.72750T= (p.Ile24250=)
c.54513T= (p.Ile18171=)
c.44367T= (p.Ile14789=)
2g.178564514A>CCA349581120TTN,TTN-AS1c.73914T>G (p.Ile24638Met)
c.54999T>G (p.Ile18333Met)
c.54798T>G (p.Ile18266Met)
c.54423T>G (p.Ile18141Met)
c.81618T>G (p.Ile27206Met)
c.76695T>G (p.Ile25565Met)
n.447-6786A>C
n.2044-18058A>C
c.80715T>G (p.Ile26905Met)
c.54609T>G (p.Ile18203Met)
c.54468T>G (p.Ile18156Met)
c.80511T>G (p.Ile26837Met)
c.75909T>G (p.Ile25303Met)
c.75906T>G (p.Ile25302Met)
c.72948T>G (p.Ile24316Met)
c.54564T>G (p.Ile18188Met)
c.76059T>G (p.Ile25353Met)
c.76056T>G (p.Ile25352Met)
c.75489T>G (p.Ile25163Met)
c.72831T>G (p.Ile24277Met)
c.72750T>G (p.Ile24250Met)
c.54513T>G (p.Ile18171Met)
c.44367T>G (p.Ile14789Met)
2g.178564514A>GCA1989180TTN,TTN-AS1c.73914T>C (p.Ile24638=)
c.54999T>C (p.Ile18333=)
c.54798T>C (p.Ile18266=)
c.54423T>C (p.Ile18141=)
c.81618T>C (p.Ile27206=)
c.76695T>C (p.Ile25565=)
n.447-6786A>G
n.2044-18058A>G
c.80715T>C (p.Ile26905=)
c.54609T>C (p.Ile18203=)
c.54468T>C (p.Ile18156=)
c.80511T>C (p.Ile26837=)
c.75909T>C (p.Ile25303=)
c.75906T>C (p.Ile25302=)
c.72948T>C (p.Ile24316=)
c.54564T>C (p.Ile18188=)
c.76059T>C (p.Ile25353=)
c.76056T>C (p.Ile25352=)
c.75489T>C (p.Ile25163=)
c.72831T>C (p.Ile24277=)
c.72750T>C (p.Ile24250=)
c.54513T>C (p.Ile18171=)
c.44367T>C (p.Ile14789=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178564514A>TCA430250989TTN,TTN-AS1c.73914T>A (p.Ile24638=)
c.54999T>A (p.Ile18333=)
c.54798T>A (p.Ile18266=)
c.54423T>A (p.Ile18141=)
c.81618T>A (p.Ile27206=)
c.76695T>A (p.Ile25565=)
n.447-6786A>T
n.2044-18058A>T
c.80715T>A (p.Ile26905=)
c.54609T>A (p.Ile18203=)
c.54468T>A (p.Ile18156=)
c.80511T>A (p.Ile26837=)
c.75909T>A (p.Ile25303=)
c.75906T>A (p.Ile25302=)
c.72948T>A (p.Ile24316=)
c.54564T>A (p.Ile18188=)
c.76059T>A (p.Ile25353=)
c.76056T>A (p.Ile25352=)
c.75489T>A (p.Ile25163=)
c.72831T>A (p.Ile24277=)
c.72750T>A (p.Ile24250=)
c.54513T>A (p.Ile18171=)
c.44367T>A (p.Ile14789=)
 gnomAD v4
2g.178564515A=CA1310528284TTN,TTN-AS1c.73913T= (p.Ile24638=)
c.54998T= (p.Ile18333=)
c.54797T= (p.Ile18266=)
c.54422T= (p.Ile18141=)
c.81617T= (p.Ile27206=)
c.76694T= (p.Ile25565=)
n.447-6785A=
n.2044-18057A=
c.80714T= (p.Ile26905=)
c.54608T= (p.Ile18203=)
c.54467T= (p.Ile18156=)
c.80510T= (p.Ile26837=)
c.75908T= (p.Ile25303=)
c.75905T= (p.Ile25302=)
c.72947T= (p.Ile24316=)
c.54563T= (p.Ile18188=)
c.76058T= (p.Ile25353=)
c.76055T= (p.Ile25352=)
c.75488T= (p.Ile25163=)
c.72830T= (p.Ile24277=)
c.72749T= (p.Ile24250=)
c.54512T= (p.Ile18171=)
c.44366T= (p.Ile14789=)
2g.178564515A>CCA349581121TTN,TTN-AS1c.73913T>G (p.Ile24638Ser)
c.54998T>G (p.Ile18333Ser)
c.54797T>G (p.Ile18266Ser)
c.54422T>G (p.Ile18141Ser)
c.81617T>G (p.Ile27206Ser)
c.76694T>G (p.Ile25565Ser)
n.447-6785A>C
n.2044-18057A>C
c.80714T>G (p.Ile26905Ser)
c.54608T>G (p.Ile18203Ser)
c.54467T>G (p.Ile18156Ser)
c.80510T>G (p.Ile26837Ser)
c.75908T>G (p.Ile25303Ser)
c.75905T>G (p.Ile25302Ser)
c.72947T>G (p.Ile24316Ser)
c.54563T>G (p.Ile18188Ser)
c.76058T>G (p.Ile25353Ser)
c.76055T>G (p.Ile25352Ser)
c.75488T>G (p.Ile25163Ser)
c.72830T>G (p.Ile24277Ser)
c.72749T>G (p.Ile24250Ser)
c.54512T>G (p.Ile18171Ser)
c.44366T>G (p.Ile14789Ser)
2g.178564515A>GCA1989181TTN,TTN-AS1c.73913T>C (p.Ile24638Thr)
c.54998T>C (p.Ile18333Thr)
c.54797T>C (p.Ile18266Thr)
c.54422T>C (p.Ile18141Thr)
c.81617T>C (p.Ile27206Thr)
c.76694T>C (p.Ile25565Thr)
n.447-6785A>G
n.2044-18057A>G
c.80714T>C (p.Ile26905Thr)
c.54608T>C (p.Ile18203Thr)
c.54467T>C (p.Ile18156Thr)
c.80510T>C (p.Ile26837Thr)
c.75908T>C (p.Ile25303Thr)
c.75905T>C (p.Ile25302Thr)
c.72947T>C (p.Ile24316Thr)
c.54563T>C (p.Ile18188Thr)
c.76058T>C (p.Ile25353Thr)
c.76055T>C (p.Ile25352Thr)
c.75488T>C (p.Ile25163Thr)
c.72830T>C (p.Ile24277Thr)
c.72749T>C (p.Ile24250Thr)
c.54512T>C (p.Ile18171Thr)
c.44366T>C (p.Ile14789Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.178564515A>TCA349581122TTN,TTN-AS1c.73913T>A (p.Ile24638Asn)
c.54998T>A (p.Ile18333Asn)
c.54797T>A (p.Ile18266Asn)
c.54422T>A (p.Ile18141Asn)
c.81617T>A (p.Ile27206Asn)
c.76694T>A (p.Ile25565Asn)
n.447-6785A>T
n.2044-18057A>T
c.80714T>A (p.Ile26905Asn)
c.54608T>A (p.Ile18203Asn)
c.54467T>A (p.Ile18156Asn)
c.80510T>A (p.Ile26837Asn)
c.75908T>A (p.Ile25303Asn)
c.75905T>A (p.Ile25302Asn)
c.72947T>A (p.Ile24316Asn)
c.54563T>A (p.Ile18188Asn)
c.76058T>A (p.Ile25353Asn)
c.76055T>A (p.Ile25352Asn)
c.75488T>A (p.Ile25163Asn)
c.72830T>A (p.Ile24277Asn)
c.72749T>A (p.Ile24250Asn)
c.54512T>A (p.Ile18171Asn)
c.44366T>A (p.Ile14789Asn)
 COSMIC COSMIC COSMIC COSMIC
2g.178564516T>ACA349581123TTN,TTN-AS1c.73912A>T (p.Ile24638Phe)
c.54997A>T (p.Ile18333Phe)
c.54796A>T (p.Ile18266Phe)
c.54421A>T (p.Ile18141Phe)
c.81616A>T (p.Ile27206Phe)
c.76693A>T (p.Ile25565Phe)
n.447-6784T>A
n.2044-18056T>A
c.80713A>T (p.Ile26905Phe)
c.54607A>T (p.Ile18203Phe)
c.54466A>T (p.Ile18156Phe)
c.80509A>T (p.Ile26837Phe)
c.75907A>T (p.Ile25303Phe)
c.75904A>T (p.Ile25302Phe)
c.72946A>T (p.Ile24316Phe)
c.54562A>T (p.Ile18188Phe)
c.76057A>T (p.Ile25353Phe)
c.76054A>T (p.Ile25352Phe)
c.75487A>T (p.Ile25163Phe)
c.72829A>T (p.Ile24277Phe)
c.72748A>T (p.Ile24250Phe)
c.54511A>T (p.Ile18171Phe)
c.44365A>T (p.Ile14789Phe)
2g.178564516T>CCA349581124TTN,TTN-AS1c.73912A>G (p.Ile24638Val)
c.54997A>G (p.Ile18333Val)
c.54796A>G (p.Ile18266Val)
c.54421A>G (p.Ile18141Val)
c.81616A>G (p.Ile27206Val)
c.76693A>G (p.Ile25565Val)
n.447-6784T>C
n.2044-18056T>C
c.80713A>G (p.Ile26905Val)
c.54607A>G (p.Ile18203Val)
c.54466A>G (p.Ile18156Val)
c.80509A>G (p.Ile26837Val)
c.75907A>G (p.Ile25303Val)
c.75904A>G (p.Ile25302Val)
c.72946A>G (p.Ile24316Val)
c.54562A>G (p.Ile18188Val)
c.76057A>G (p.Ile25353Val)
c.76054A>G (p.Ile25352Val)
c.75487A>G (p.Ile25163Val)
c.72829A>G (p.Ile24277Val)
c.72748A>G (p.Ile24250Val)
c.54511A>G (p.Ile18171Val)
c.44365A>G (p.Ile14789Val)
2g.178564516T>GCA349581125TTN,TTN-AS1c.73912A>C (p.Ile24638Leu)
c.54997A>C (p.Ile18333Leu)
c.54796A>C (p.Ile18266Leu)
c.54421A>C (p.Ile18141Leu)
c.81616A>C (p.Ile27206Leu)
c.76693A>C (p.Ile25565Leu)
n.447-6784T>G
n.2044-18056T>G
c.80713A>C (p.Ile26905Leu)
c.54607A>C (p.Ile18203Leu)
c.54466A>C (p.Ile18156Leu)
c.80509A>C (p.Ile26837Leu)
c.75907A>C (p.Ile25303Leu)
c.75904A>C (p.Ile25302Leu)
c.72946A>C (p.Ile24316Leu)
c.54562A>C (p.Ile18188Leu)
c.76057A>C (p.Ile25353Leu)
c.76054A>C (p.Ile25352Leu)
c.75487A>C (p.Ile25163Leu)
c.72829A>C (p.Ile24277Leu)
c.72748A>C (p.Ile24250Leu)
c.54511A>C (p.Ile18171Leu)
c.44365A>C (p.Ile14789Leu)
2g.178564517A=CA1310528285TTN,TTN-AS1c.73911T= (p.Tyr24637=)
c.54996T= (p.Tyr18332=)
c.54795T= (p.Tyr18265=)
c.54420T= (p.Tyr18140=)
c.81615T= (p.Tyr27205=)
c.76692T= (p.Tyr25564=)
n.447-6783A=
n.2044-18055A=
c.80712T= (p.Tyr26904=)
c.54606T= (p.Tyr18202=)
c.54465T= (p.Tyr18155=)
c.80508T= (p.Tyr26836=)
c.75906T= (p.Tyr25302=)
c.75903T= (p.Tyr25301=)
c.72945T= (p.Tyr24315=)
c.54561T= (p.Tyr18187=)
c.76056T= (p.Tyr25352=)
c.76053T= (p.Tyr25351=)
c.75486T= (p.Tyr25162=)
c.72828T= (p.Tyr24276=)
c.72747T= (p.Tyr24249=)
c.54510T= (p.Tyr18170=)
c.44364T= (p.Tyr14788=)
2g.178564517A>CCA349581126TTN,TTN-AS1c.73911T>G (p.Tyr24637Ter)
c.54996T>G (p.Tyr18332Ter)
c.54795T>G (p.Tyr18265Ter)
c.54420T>G (p.Tyr18140Ter)
c.81615T>G (p.Tyr27205Ter)
c.76692T>G (p.Tyr25564Ter)
n.447-6783A>C
n.2044-18055A>C
c.80712T>G (p.Tyr26904Ter)
c.54606T>G (p.Tyr18202Ter)
c.54465T>G (p.Tyr18155Ter)
c.80508T>G (p.Tyr26836Ter)
c.75906T>G (p.Tyr25302Ter)
c.75903T>G (p.Tyr25301Ter)
c.72945T>G (p.Tyr24315Ter)
c.54561T>G (p.Tyr18187Ter)
c.76056T>G (p.Tyr25352Ter)
c.76053T>G (p.Tyr25351Ter)
c.75486T>G (p.Tyr25162Ter)
c.72828T>G (p.Tyr24276Ter)
c.72747T>G (p.Tyr24249Ter)
c.54510T>G (p.Tyr18170Ter)
c.44364T>G (p.Tyr14788Ter)
2g.178564517A>GCA430250990TTN,TTN-AS1c.73911T>C (p.Tyr24637=)
c.54996T>C (p.Tyr18332=)
c.54795T>C (p.Tyr18265=)
c.54420T>C (p.Tyr18140=)
c.81615T>C (p.Tyr27205=)
c.76692T>C (p.Tyr25564=)
n.447-6783A>G
n.2044-18055A>G
c.80712T>C (p.Tyr26904=)
c.54606T>C (p.Tyr18202=)
c.54465T>C (p.Tyr18155=)
c.80508T>C (p.Tyr26836=)
c.75906T>C (p.Tyr25302=)
c.75903T>C (p.Tyr25301=)
c.72945T>C (p.Tyr24315=)
c.54561T>C (p.Tyr18187=)
c.76056T>C (p.Tyr25352=)
c.76053T>C (p.Tyr25351=)
c.75486T>C (p.Tyr25162=)
c.72828T>C (p.Tyr24276=)
c.72747T>C (p.Tyr24249=)
c.54510T>C (p.Tyr18170=)
c.44364T>C (p.Tyr14788=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178564517A>TCA349581127TTN,TTN-AS1c.73911T>A (p.Tyr24637Ter)
c.54996T>A (p.Tyr18332Ter)
c.54795T>A (p.Tyr18265Ter)
c.54420T>A (p.Tyr18140Ter)
c.81615T>A (p.Tyr27205Ter)
c.76692T>A (p.Tyr25564Ter)
n.447-6783A>T
n.2044-18055A>T
c.80712T>A (p.Tyr26904Ter)
c.54606T>A (p.Tyr18202Ter)
c.54465T>A (p.Tyr18155Ter)
c.80508T>A (p.Tyr26836Ter)
c.75906T>A (p.Tyr25302Ter)
c.75903T>A (p.Tyr25301Ter)
c.72945T>A (p.Tyr24315Ter)
c.54561T>A (p.Tyr18187Ter)
c.76056T>A (p.Tyr25352Ter)
c.76053T>A (p.Tyr25351Ter)
c.75486T>A (p.Tyr25162Ter)
c.72828T>A (p.Tyr24276Ter)
c.72747T>A (p.Tyr24249Ter)
c.54510T>A (p.Tyr18170Ter)
c.44364T>A (p.Tyr14788Ter)
2g.178564518T>ACA349581128TTN,TTN-AS1c.73910A>T (p.Tyr24637Phe)
c.54995A>T (p.Tyr18332Phe)
c.54794A>T (p.Tyr18265Phe)
c.54419A>T (p.Tyr18140Phe)
c.81614A>T (p.Tyr27205Phe)
c.76691A>T (p.Tyr25564Phe)
n.447-6782T>A
n.2044-18054T>A
c.80711A>T (p.Tyr26904Phe)
c.54605A>T (p.Tyr18202Phe)
c.54464A>T (p.Tyr18155Phe)
c.80507A>T (p.Tyr26836Phe)
c.75905A>T (p.Tyr25302Phe)
c.75902A>T (p.Tyr25301Phe)
c.72944A>T (p.Tyr24315Phe)
c.54560A>T (p.Tyr18187Phe)
c.76055A>T (p.Tyr25352Phe)
c.76052A>T (p.Tyr25351Phe)
c.75485A>T (p.Tyr25162Phe)
c.72827A>T (p.Tyr24276Phe)
c.72746A>T (p.Tyr24249Phe)
c.54509A>T (p.Tyr18170Phe)
c.44363A>T (p.Tyr14788Phe)
2g.178564518T>CCA349581129TTN,TTN-AS1c.73910A>G (p.Tyr24637Cys)
c.54995A>G (p.Tyr18332Cys)
c.54794A>G (p.Tyr18265Cys)
c.54419A>G (p.Tyr18140Cys)
c.81614A>G (p.Tyr27205Cys)
c.76691A>G (p.Tyr25564Cys)
n.447-6782T>C
n.2044-18054T>C
c.80711A>G (p.Tyr26904Cys)
c.54605A>G (p.Tyr18202Cys)
c.54464A>G (p.Tyr18155Cys)
c.80507A>G (p.Tyr26836Cys)
c.75905A>G (p.Tyr25302Cys)
c.75902A>G (p.Tyr25301Cys)
c.72944A>G (p.Tyr24315Cys)
c.54560A>G (p.Tyr18187Cys)
c.76055A>G (p.Tyr25352Cys)
c.76052A>G (p.Tyr25351Cys)
c.75485A>G (p.Tyr25162Cys)
c.72827A>G (p.Tyr24276Cys)
c.72746A>G (p.Tyr24249Cys)
c.54509A>G (p.Tyr18170Cys)
c.44363A>G (p.Tyr14788Cys)
2g.178564518T>GCA349581130TTN,TTN-AS1c.73910A>C (p.Tyr24637Ser)
c.54995A>C (p.Tyr18332Ser)
c.54794A>C (p.Tyr18265Ser)
c.54419A>C (p.Tyr18140Ser)
c.81614A>C (p.Tyr27205Ser)
c.76691A>C (p.Tyr25564Ser)
n.447-6782T>G
n.2044-18054T>G
c.80711A>C (p.Tyr26904Ser)
c.54605A>C (p.Tyr18202Ser)
c.54464A>C (p.Tyr18155Ser)
c.80507A>C (p.Tyr26836Ser)
c.75905A>C (p.Tyr25302Ser)
c.75902A>C (p.Tyr25301Ser)
c.72944A>C (p.Tyr24315Ser)
c.54560A>C (p.Tyr18187Ser)
c.76055A>C (p.Tyr25352Ser)
c.76052A>C (p.Tyr25351Ser)
c.75485A>C (p.Tyr25162Ser)
c.72827A>C (p.Tyr24276Ser)
c.72746A>C (p.Tyr24249Ser)
c.54509A>C (p.Tyr18170Ser)
c.44363A>C (p.Tyr14788Ser)
2g.178564519A>CCA349581131TTN,TTN-AS1c.73909T>G (p.Tyr24637Asp)
c.54994T>G (p.Tyr18332Asp)
c.54793T>G (p.Tyr18265Asp)
c.54418T>G (p.Tyr18140Asp)
c.81613T>G (p.Tyr27205Asp)
c.76690T>G (p.Tyr25564Asp)
n.447-6781A>C
n.2044-18053A>C
c.80710T>G (p.Tyr26904Asp)
c.54604T>G (p.Tyr18202Asp)
c.54463T>G (p.Tyr18155Asp)
c.80506T>G (p.Tyr26836Asp)
c.75904T>G (p.Tyr25302Asp)
c.75901T>G (p.Tyr25301Asp)
c.72943T>G (p.Tyr24315Asp)
c.54559T>G (p.Tyr18187Asp)
c.76054T>G (p.Tyr25352Asp)
c.76051T>G (p.Tyr25351Asp)
c.75484T>G (p.Tyr25162Asp)
c.72826T>G (p.Tyr24276Asp)
c.72745T>G (p.Tyr24249Asp)
c.54508T>G (p.Tyr18170Asp)
c.44362T>G (p.Tyr14788Asp)

Number of alleles fetched