Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178591018A=CA1310539759TTN,TTN-AS1c.53003T= (p.Leu17668=)
c.34088T= (p.Leu11363=)
c.33887T= (p.Leu11296=)
c.33512T= (p.Leu11171=)
c.60707T= (p.Leu20236=)
c.55784T= (p.Leu18595=)
n.597-6578A=
n.3189-121A=
c.59804T= (p.Leu19935=)
c.33698T= (p.Leu11233=)
c.33557T= (p.Leu11186=)
c.59600T= (p.Leu19867=)
c.54998T= (p.Leu18333=)
c.54995T= (p.Leu18332=)
c.52037T= (p.Leu17346=)
c.33653T= (p.Leu11218=)
c.55148T= (p.Leu18383=)
c.55145T= (p.Leu18382=)
c.54578T= (p.Leu18193=)
c.51920T= (p.Leu17307=)
c.51839T= (p.Leu17280=)
c.33602T= (p.Leu11201=)
c.23456T= (p.Leu7819=)
2g.178591018A>CCA1992455TTN,TTN-AS1c.53003T>G (p.Leu17668Arg)
c.34088T>G (p.Leu11363Arg)
c.33887T>G (p.Leu11296Arg)
c.33512T>G (p.Leu11171Arg)
c.60707T>G (p.Leu20236Arg)
c.55784T>G (p.Leu18595Arg)
n.597-6578A>C
n.3189-121A>C
c.59804T>G (p.Leu19935Arg)
c.33698T>G (p.Leu11233Arg)
c.33557T>G (p.Leu11186Arg)
c.59600T>G (p.Leu19867Arg)
c.54998T>G (p.Leu18333Arg)
c.54995T>G (p.Leu18332Arg)
c.52037T>G (p.Leu17346Arg)
c.33653T>G (p.Leu11218Arg)
c.55148T>G (p.Leu18383Arg)
c.55145T>G (p.Leu18382Arg)
c.54578T>G (p.Leu18193Arg)
c.51920T>G (p.Leu17307Arg)
c.51839T>G (p.Leu17280Arg)
c.33602T>G (p.Leu11201Arg)
c.23456T>G (p.Leu7819Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178591018A>GCA349480088TTN,TTN-AS1c.53003T>C (p.Leu17668Pro)
c.34088T>C (p.Leu11363Pro)
c.33887T>C (p.Leu11296Pro)
c.33512T>C (p.Leu11171Pro)
c.60707T>C (p.Leu20236Pro)
c.55784T>C (p.Leu18595Pro)
n.597-6578A>G
n.3189-121A>G
c.59804T>C (p.Leu19935Pro)
c.33698T>C (p.Leu11233Pro)
c.33557T>C (p.Leu11186Pro)
c.59600T>C (p.Leu19867Pro)
c.54998T>C (p.Leu18333Pro)
c.54995T>C (p.Leu18332Pro)
c.52037T>C (p.Leu17346Pro)
c.33653T>C (p.Leu11218Pro)
c.55148T>C (p.Leu18383Pro)
c.55145T>C (p.Leu18382Pro)
c.54578T>C (p.Leu18193Pro)
c.51920T>C (p.Leu17307Pro)
c.51839T>C (p.Leu17280Pro)
c.33602T>C (p.Leu11201Pro)
c.23456T>C (p.Leu7819Pro)
2g.178591018A>TCA349480103TTN,TTN-AS1c.53003T>A (p.Leu17668Gln)
c.34088T>A (p.Leu11363Gln)
c.33887T>A (p.Leu11296Gln)
c.33512T>A (p.Leu11171Gln)
c.60707T>A (p.Leu20236Gln)
c.55784T>A (p.Leu18595Gln)
n.597-6578A>T
n.3189-121A>T
c.59804T>A (p.Leu19935Gln)
c.33698T>A (p.Leu11233Gln)
c.33557T>A (p.Leu11186Gln)
c.59600T>A (p.Leu19867Gln)
c.54998T>A (p.Leu18333Gln)
c.54995T>A (p.Leu18332Gln)
c.52037T>A (p.Leu17346Gln)
c.33653T>A (p.Leu11218Gln)
c.55148T>A (p.Leu18383Gln)
c.55145T>A (p.Leu18382Gln)
c.54578T>A (p.Leu18193Gln)
c.51920T>A (p.Leu17307Gln)
c.51839T>A (p.Leu17280Gln)
c.33602T>A (p.Leu11201Gln)
c.23456T>A (p.Leu7819Gln)
2g.178591019G>ACA430266369TTN,TTN-AS1c.53002C>T (p.Leu17668=)
c.34087C>T (p.Leu11363=)
c.33886C>T (p.Leu11296=)
c.33511C>T (p.Leu11171=)
c.60706C>T (p.Leu20236=)
c.55783C>T (p.Leu18595=)
n.597-6577G>A
n.3189-120G>A
c.59803C>T (p.Leu19935=)
c.33697C>T (p.Leu11233=)
c.33556C>T (p.Leu11186=)
c.59599C>T (p.Leu19867=)
c.54997C>T (p.Leu18333=)
c.54994C>T (p.Leu18332=)
c.52036C>T (p.Leu17346=)
c.33652C>T (p.Leu11218=)
c.55147C>T (p.Leu18383=)
c.55144C>T (p.Leu18382=)
c.54577C>T (p.Leu18193=)
c.51919C>T (p.Leu17307=)
c.51838C>T (p.Leu17280=)
c.33601C>T (p.Leu11201=)
c.23455C>T (p.Leu7819=)
2g.178591019G>CCA349480107TTN,TTN-AS1c.53002C>G (p.Leu17668Val)
c.34087C>G (p.Leu11363Val)
c.33886C>G (p.Leu11296Val)
c.33511C>G (p.Leu11171Val)
c.60706C>G (p.Leu20236Val)
c.55783C>G (p.Leu18595Val)
n.597-6577G>C
n.3189-120G>C
c.59803C>G (p.Leu19935Val)
c.33697C>G (p.Leu11233Val)
c.33556C>G (p.Leu11186Val)
c.59599C>G (p.Leu19867Val)
c.54997C>G (p.Leu18333Val)
c.54994C>G (p.Leu18332Val)
c.52036C>G (p.Leu17346Val)
c.33652C>G (p.Leu11218Val)
c.55147C>G (p.Leu18383Val)
c.55144C>G (p.Leu18382Val)
c.54577C>G (p.Leu18193Val)
c.51919C>G (p.Leu17307Val)
c.51838C>G (p.Leu17280Val)
c.33601C>G (p.Leu11201Val)
c.23455C>G (p.Leu7819Val)
2g.178591019G>TCA349480112TTN,TTN-AS1c.53002C>A (p.Leu17668Met)
c.34087C>A (p.Leu11363Met)
c.33886C>A (p.Leu11296Met)
c.33511C>A (p.Leu11171Met)
c.60706C>A (p.Leu20236Met)
c.55783C>A (p.Leu18595Met)
n.597-6577G>T
n.3189-120G>T
c.59803C>A (p.Leu19935Met)
c.33697C>A (p.Leu11233Met)
c.33556C>A (p.Leu11186Met)
c.59599C>A (p.Leu19867Met)
c.54997C>A (p.Leu18333Met)
c.54994C>A (p.Leu18332Met)
c.52036C>A (p.Leu17346Met)
c.33652C>A (p.Leu11218Met)
c.55147C>A (p.Leu18383Met)
c.55144C>A (p.Leu18382Met)
c.54577C>A (p.Leu18193Met)
c.51919C>A (p.Leu17307Met)
c.51838C>A (p.Leu17280Met)
c.33601C>A (p.Leu11201Met)
c.23455C>A (p.Leu7819Met)
2g.178591020A=CA1310539761TTN,TTN-AS1c.53001T= (p.His17667=)
c.34086T= (p.His11362=)
c.33885T= (p.His11295=)
c.33510T= (p.His11170=)
c.60705T= (p.His20235=)
c.55782T= (p.His18594=)
n.597-6576A=
n.3189-119A=
c.59802T= (p.His19934=)
c.33696T= (p.His11232=)
c.33555T= (p.His11185=)
c.59598T= (p.His19866=)
c.54996T= (p.His18332=)
c.54993T= (p.His18331=)
c.52035T= (p.His17345=)
c.33651T= (p.His11217=)
c.55146T= (p.His18382=)
c.55143T= (p.His18381=)
c.54576T= (p.His18192=)
c.51918T= (p.His17306=)
c.51837T= (p.His17279=)
c.33600T= (p.His11200=)
c.23454T= (p.His7818=)
2g.178591020A>CCA349480119TTN,TTN-AS1c.53001T>G (p.His17667Gln)
c.34086T>G (p.His11362Gln)
c.33885T>G (p.His11295Gln)
c.33510T>G (p.His11170Gln)
c.60705T>G (p.His20235Gln)
c.55782T>G (p.His18594Gln)
n.597-6576A>C
n.3189-119A>C
c.59802T>G (p.His19934Gln)
c.33696T>G (p.His11232Gln)
c.33555T>G (p.His11185Gln)
c.59598T>G (p.His19866Gln)
c.54996T>G (p.His18332Gln)
c.54993T>G (p.His18331Gln)
c.52035T>G (p.His17345Gln)
c.33651T>G (p.His11217Gln)
c.55146T>G (p.His18382Gln)
c.55143T>G (p.His18381Gln)
c.54576T>G (p.His18192Gln)
c.51918T>G (p.His17306Gln)
c.51837T>G (p.His17279Gln)
c.33600T>G (p.His11200Gln)
c.23454T>G (p.His7818Gln)
2g.178591020A>GCA430266371TTN,TTN-AS1c.53001T>C (p.His17667=)
c.34086T>C (p.His11362=)
c.33885T>C (p.His11295=)
c.33510T>C (p.His11170=)
c.60705T>C (p.His20235=)
c.55782T>C (p.His18594=)
n.597-6576A>G
n.3189-119A>G
c.59802T>C (p.His19934=)
c.33696T>C (p.His11232=)
c.33555T>C (p.His11185=)
c.59598T>C (p.His19866=)
c.54996T>C (p.His18332=)
c.54993T>C (p.His18331=)
c.52035T>C (p.His17345=)
c.33651T>C (p.His11217=)
c.55146T>C (p.His18382=)
c.55143T>C (p.His18381=)
c.54576T>C (p.His18192=)
c.51918T>C (p.His17306=)
c.51837T>C (p.His17279=)
c.33600T>C (p.His11200=)
c.23454T>C (p.His7818=)
2g.178591020A>TCA1992456TTN,TTN-AS1c.53001T>A (p.His17667Gln)
c.34086T>A (p.His11362Gln)
c.33885T>A (p.His11295Gln)
c.33510T>A (p.His11170Gln)
c.60705T>A (p.His20235Gln)
c.55782T>A (p.His18594Gln)
n.597-6576A>T
n.3189-119A>T
c.59802T>A (p.His19934Gln)
c.33696T>A (p.His11232Gln)
c.33555T>A (p.His11185Gln)
c.59598T>A (p.His19866Gln)
c.54996T>A (p.His18332Gln)
c.54993T>A (p.His18331Gln)
c.52035T>A (p.His17345Gln)
c.33651T>A (p.His11217Gln)
c.55146T>A (p.His18382Gln)
c.55143T>A (p.His18381Gln)
c.54576T>A (p.His18192Gln)
c.51918T>A (p.His17306Gln)
c.51837T>A (p.His17279Gln)
c.33600T>A (p.His11200Gln)
c.23454T>A (p.His7818Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178591021T>ACA349480136TTN,TTN-AS1c.53000A>T (p.His17667Leu)
c.34085A>T (p.His11362Leu)
c.33884A>T (p.His11295Leu)
c.33509A>T (p.His11170Leu)
c.60704A>T (p.His20235Leu)
c.55781A>T (p.His18594Leu)
n.597-6575T>A
n.3189-118T>A
c.59801A>T (p.His19934Leu)
c.33695A>T (p.His11232Leu)
c.33554A>T (p.His11185Leu)
c.59597A>T (p.His19866Leu)
c.54995A>T (p.His18332Leu)
c.54992A>T (p.His18331Leu)
c.52034A>T (p.His17345Leu)
c.33650A>T (p.His11217Leu)
c.55145A>T (p.His18382Leu)
c.55142A>T (p.His18381Leu)
c.54575A>T (p.His18192Leu)
c.51917A>T (p.His17306Leu)
c.51836A>T (p.His17279Leu)
c.33599A>T (p.His11200Leu)
c.23453A>T (p.His7818Leu)
 gnomAD v4
2g.178591021T>CCA349480127TTN,TTN-AS1c.53000A>G (p.His17667Arg)
c.34085A>G (p.His11362Arg)
c.33884A>G (p.His11295Arg)
c.33509A>G (p.His11170Arg)
c.60704A>G (p.His20235Arg)
c.55781A>G (p.His18594Arg)
n.597-6575T>C
n.3189-118T>C
c.59801A>G (p.His19934Arg)
c.33695A>G (p.His11232Arg)
c.33554A>G (p.His11185Arg)
c.59597A>G (p.His19866Arg)
c.54995A>G (p.His18332Arg)
c.54992A>G (p.His18331Arg)
c.52034A>G (p.His17345Arg)
c.33650A>G (p.His11217Arg)
c.55145A>G (p.His18382Arg)
c.55142A>G (p.His18381Arg)
c.54575A>G (p.His18192Arg)
c.51917A>G (p.His17306Arg)
c.51836A>G (p.His17279Arg)
c.33599A>G (p.His11200Arg)
c.23453A>G (p.His7818Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.178591021T>GCA349480131TTN,TTN-AS1c.53000A>C (p.His17667Pro)
c.34085A>C (p.His11362Pro)
c.33884A>C (p.His11295Pro)
c.33509A>C (p.His11170Pro)
c.60704A>C (p.His20235Pro)
c.55781A>C (p.His18594Pro)
n.597-6575T>G
n.3189-118T>G
c.59801A>C (p.His19934Pro)
c.33695A>C (p.His11232Pro)
c.33554A>C (p.His11185Pro)
c.59597A>C (p.His19866Pro)
c.54995A>C (p.His18332Pro)
c.54992A>C (p.His18331Pro)
c.52034A>C (p.His17345Pro)
c.33650A>C (p.His11217Pro)
c.55145A>C (p.His18382Pro)
c.55142A>C (p.His18381Pro)
c.54575A>C (p.His18192Pro)
c.51917A>C (p.His17306Pro)
c.51836A>C (p.His17279Pro)
c.33599A>C (p.His11200Pro)
c.23453A>C (p.His7818Pro)
2g.178591021T=CA1310539762TTN,TTN-AS1c.53000A= (p.His17667=)
c.34085A= (p.His11362=)
c.33884A= (p.His11295=)
c.33509A= (p.His11170=)
c.60704A= (p.His20235=)
c.55781A= (p.His18594=)
n.597-6575T=
n.3189-118T=
c.59801A= (p.His19934=)
c.33695A= (p.His11232=)
c.33554A= (p.His11185=)
c.59597A= (p.His19866=)
c.54995A= (p.His18332=)
c.54992A= (p.His18331=)
c.52034A= (p.His17345=)
c.33650A= (p.His11217=)
c.55145A= (p.His18382=)
c.55142A= (p.His18381=)
c.54575A= (p.His18192=)
c.51917A= (p.His17306=)
c.51836A= (p.His17279=)
c.33599A= (p.His11200=)
c.23453A= (p.His7818=)
2g.178591022G>ACA349480140TTN,TTN-AS1c.52999C>T (p.His17667Tyr)
c.34084C>T (p.His11362Tyr)
c.33883C>T (p.His11295Tyr)
c.33508C>T (p.His11170Tyr)
c.60703C>T (p.His20235Tyr)
c.55780C>T (p.His18594Tyr)
n.597-6574G>A
n.3189-117G>A
c.59800C>T (p.His19934Tyr)
c.33694C>T (p.His11232Tyr)
c.33553C>T (p.His11185Tyr)
c.59596C>T (p.His19866Tyr)
c.54994C>T (p.His18332Tyr)
c.54991C>T (p.His18331Tyr)
c.52033C>T (p.His17345Tyr)
c.33649C>T (p.His11217Tyr)
c.55144C>T (p.His18382Tyr)
c.55141C>T (p.His18381Tyr)
c.54574C>T (p.His18192Tyr)
c.51916C>T (p.His17306Tyr)
c.51835C>T (p.His17279Tyr)
c.33598C>T (p.His11200Tyr)
c.23452C>T (p.His7818Tyr)
 COSMIC COSMIC COSMIC COSMIC
2g.178591022G>CCA349480143TTN,TTN-AS1c.52999C>G (p.His17667Asp)
c.34084C>G (p.His11362Asp)
c.33883C>G (p.His11295Asp)
c.33508C>G (p.His11170Asp)
c.60703C>G (p.His20235Asp)
c.55780C>G (p.His18594Asp)
n.597-6574G>C
n.3189-117G>C
c.59800C>G (p.His19934Asp)
c.33694C>G (p.His11232Asp)
c.33553C>G (p.His11185Asp)
c.59596C>G (p.His19866Asp)
c.54994C>G (p.His18332Asp)
c.54991C>G (p.His18331Asp)
c.52033C>G (p.His17345Asp)
c.33649C>G (p.His11217Asp)
c.55144C>G (p.His18382Asp)
c.55141C>G (p.His18381Asp)
c.54574C>G (p.His18192Asp)
c.51916C>G (p.His17306Asp)
c.51835C>G (p.His17279Asp)
c.33598C>G (p.His11200Asp)
c.23452C>G (p.His7818Asp)
2g.178591022G>TCA349480148TTN,TTN-AS1c.52999C>A (p.His17667Asn)
c.34084C>A (p.His11362Asn)
c.33883C>A (p.His11295Asn)
c.33508C>A (p.His11170Asn)
c.60703C>A (p.His20235Asn)
c.55780C>A (p.His18594Asn)
n.597-6574G>T
n.3189-117G>T
c.59800C>A (p.His19934Asn)
c.33694C>A (p.His11232Asn)
c.33553C>A (p.His11185Asn)
c.59596C>A (p.His19866Asn)
c.54994C>A (p.His18332Asn)
c.54991C>A (p.His18331Asn)
c.52033C>A (p.His17345Asn)
c.33649C>A (p.His11217Asn)
c.55144C>A (p.His18382Asn)
c.55141C>A (p.His18381Asn)
c.54574C>A (p.His18192Asn)
c.51916C>A (p.His17306Asn)
c.51835C>A (p.His17279Asn)
c.33598C>A (p.His11200Asn)
c.23452C>A (p.His7818Asn)
2g.178591023T>ACA430266373TTN,TTN-AS1c.52998A>T (p.Pro17666=)
c.34083A>T (p.Pro11361=)
c.33882A>T (p.Pro11294=)
c.33507A>T (p.Pro11169=)
c.60702A>T (p.Pro20234=)
c.55779A>T (p.Pro18593=)
n.597-6573T>A
n.3189-116T>A
c.59799A>T (p.Pro19933=)
c.33693A>T (p.Pro11231=)
c.33552A>T (p.Pro11184=)
c.59595A>T (p.Pro19865=)
c.54993A>T (p.Pro18331=)
c.54990A>T (p.Pro18330=)
c.52032A>T (p.Pro17344=)
c.33648A>T (p.Pro11216=)
c.55143A>T (p.Pro18381=)
c.55140A>T (p.Pro18380=)
c.54573A>T (p.Pro18191=)
c.51915A>T (p.Pro17305=)
c.51834A>T (p.Pro17278=)
c.33597A>T (p.Pro11199=)
c.23451A>T (p.Pro7817=)
2g.178591023T>CCA430266374TTN,TTN-AS1c.52998A>G (p.Pro17666=)
c.34083A>G (p.Pro11361=)
c.33882A>G (p.Pro11294=)
c.33507A>G (p.Pro11169=)
c.60702A>G (p.Pro20234=)
c.55779A>G (p.Pro18593=)
n.597-6573T>C
n.3189-116T>C
c.59799A>G (p.Pro19933=)
c.33693A>G (p.Pro11231=)
c.33552A>G (p.Pro11184=)
c.59595A>G (p.Pro19865=)
c.54993A>G (p.Pro18331=)
c.54990A>G (p.Pro18330=)
c.52032A>G (p.Pro17344=)
c.33648A>G (p.Pro11216=)
c.55143A>G (p.Pro18381=)
c.55140A>G (p.Pro18380=)
c.54573A>G (p.Pro18191=)
c.51915A>G (p.Pro17305=)
c.51834A>G (p.Pro17278=)
c.33597A>G (p.Pro11199=)
c.23451A>G (p.Pro7817=)
2g.178591023T>GCA60968727TTN,TTN-AS1c.52998A>C (p.Pro17666=)
c.34083A>C (p.Pro11361=)
c.33882A>C (p.Pro11294=)
c.33507A>C (p.Pro11169=)
c.60702A>C (p.Pro20234=)
c.55779A>C (p.Pro18593=)
n.597-6573T>G
n.3189-116T>G
c.59799A>C (p.Pro19933=)
c.33693A>C (p.Pro11231=)
c.33552A>C (p.Pro11184=)
c.59595A>C (p.Pro19865=)
c.54993A>C (p.Pro18331=)
c.54990A>C (p.Pro18330=)
c.52032A>C (p.Pro17344=)
c.33648A>C (p.Pro11216=)
c.55143A>C (p.Pro18381=)
c.55140A>C (p.Pro18380=)
c.54573A>C (p.Pro18191=)
c.51915A>C (p.Pro17305=)
c.51834A>C (p.Pro17278=)
c.33597A>C (p.Pro11199=)
c.23451A>C (p.Pro7817=)
 dbSNP gnomAD v2 gnomAD v4
2g.178591023T=CA1310539764TTN,TTN-AS1c.52998A= (p.Pro17666=)
c.34083A= (p.Pro11361=)
c.33882A= (p.Pro11294=)
c.33507A= (p.Pro11169=)
c.60702A= (p.Pro20234=)
c.55779A= (p.Pro18593=)
n.597-6573T=
n.3189-116T=
c.59799A= (p.Pro19933=)
c.33693A= (p.Pro11231=)
c.33552A= (p.Pro11184=)
c.59595A= (p.Pro19865=)
c.54993A= (p.Pro18331=)
c.54990A= (p.Pro18330=)
c.52032A= (p.Pro17344=)
c.33648A= (p.Pro11216=)
c.55143A= (p.Pro18381=)
c.55140A= (p.Pro18380=)
c.54573A= (p.Pro18191=)
c.51915A= (p.Pro17305=)
c.51834A= (p.Pro17278=)
c.33597A= (p.Pro11199=)
c.23451A= (p.Pro7817=)
2g.178591024G>ACA349480152TTN,TTN-AS1c.52997C>T (p.Pro17666Leu)
c.34082C>T (p.Pro11361Leu)
c.33881C>T (p.Pro11294Leu)
c.33506C>T (p.Pro11169Leu)
c.60701C>T (p.Pro20234Leu)
c.55778C>T (p.Pro18593Leu)
n.597-6572G>A
n.3189-115G>A
c.59798C>T (p.Pro19933Leu)
c.33692C>T (p.Pro11231Leu)
c.33551C>T (p.Pro11184Leu)
c.59594C>T (p.Pro19865Leu)
c.54992C>T (p.Pro18331Leu)
c.54989C>T (p.Pro18330Leu)
c.52031C>T (p.Pro17344Leu)
c.33647C>T (p.Pro11216Leu)
c.55142C>T (p.Pro18381Leu)
c.55139C>T (p.Pro18380Leu)
c.54572C>T (p.Pro18191Leu)
c.51914C>T (p.Pro17305Leu)
c.51833C>T (p.Pro17278Leu)
c.33596C>T (p.Pro11199Leu)
c.23450C>T (p.Pro7817Leu)
2g.178591024G>CCA349480156TTN,TTN-AS1c.52997C>G (p.Pro17666Arg)
c.34082C>G (p.Pro11361Arg)
c.33881C>G (p.Pro11294Arg)
c.33506C>G (p.Pro11169Arg)
c.60701C>G (p.Pro20234Arg)
c.55778C>G (p.Pro18593Arg)
n.597-6572G>C
n.3189-115G>C
c.59798C>G (p.Pro19933Arg)
c.33692C>G (p.Pro11231Arg)
c.33551C>G (p.Pro11184Arg)
c.59594C>G (p.Pro19865Arg)
c.54992C>G (p.Pro18331Arg)
c.54989C>G (p.Pro18330Arg)
c.52031C>G (p.Pro17344Arg)
c.33647C>G (p.Pro11216Arg)
c.55142C>G (p.Pro18381Arg)
c.55139C>G (p.Pro18380Arg)
c.54572C>G (p.Pro18191Arg)
c.51914C>G (p.Pro17305Arg)
c.51833C>G (p.Pro17278Arg)
c.33596C>G (p.Pro11199Arg)
c.23450C>G (p.Pro7817Arg)
2g.178591024G>TCA349480167TTN,TTN-AS1c.52997C>A (p.Pro17666Gln)
c.34082C>A (p.Pro11361Gln)
c.33881C>A (p.Pro11294Gln)
c.33506C>A (p.Pro11169Gln)
c.60701C>A (p.Pro20234Gln)
c.55778C>A (p.Pro18593Gln)
n.597-6572G>T
n.3189-115G>T
c.59798C>A (p.Pro19933Gln)
c.33692C>A (p.Pro11231Gln)
c.33551C>A (p.Pro11184Gln)
c.59594C>A (p.Pro19865Gln)
c.54992C>A (p.Pro18331Gln)
c.54989C>A (p.Pro18330Gln)
c.52031C>A (p.Pro17344Gln)
c.33647C>A (p.Pro11216Gln)
c.55142C>A (p.Pro18381Gln)
c.55139C>A (p.Pro18380Gln)
c.54572C>A (p.Pro18191Gln)
c.51914C>A (p.Pro17305Gln)
c.51833C>A (p.Pro17278Gln)
c.33596C>A (p.Pro11199Gln)
c.23450C>A (p.Pro7817Gln)
2g.178591025G>ACA349480173TTN,TTN-AS1c.52996C>T (p.Pro17666Ser)
c.34081C>T (p.Pro11361Ser)
c.33880C>T (p.Pro11294Ser)
c.33505C>T (p.Pro11169Ser)
c.60700C>T (p.Pro20234Ser)
c.55777C>T (p.Pro18593Ser)
n.597-6571G>A
n.3189-114G>A
c.59797C>T (p.Pro19933Ser)
c.33691C>T (p.Pro11231Ser)
c.33550C>T (p.Pro11184Ser)
c.59593C>T (p.Pro19865Ser)
c.54991C>T (p.Pro18331Ser)
c.54988C>T (p.Pro18330Ser)
c.52030C>T (p.Pro17344Ser)
c.33646C>T (p.Pro11216Ser)
c.55141C>T (p.Pro18381Ser)
c.55138C>T (p.Pro18380Ser)
c.54571C>T (p.Pro18191Ser)
c.51913C>T (p.Pro17305Ser)
c.51832C>T (p.Pro17278Ser)
c.33595C>T (p.Pro11199Ser)
c.23449C>T (p.Pro7817Ser)
 gnomAD v4
2g.178591025G>CCA349480174TTN,TTN-AS1c.52996C>G (p.Pro17666Ala)
c.34081C>G (p.Pro11361Ala)
c.33880C>G (p.Pro11294Ala)
c.33505C>G (p.Pro11169Ala)
c.60700C>G (p.Pro20234Ala)
c.55777C>G (p.Pro18593Ala)
n.597-6571G>C
n.3189-114G>C
c.59797C>G (p.Pro19933Ala)
c.33691C>G (p.Pro11231Ala)
c.33550C>G (p.Pro11184Ala)
c.59593C>G (p.Pro19865Ala)
c.54991C>G (p.Pro18331Ala)
c.54988C>G (p.Pro18330Ala)
c.52030C>G (p.Pro17344Ala)
c.33646C>G (p.Pro11216Ala)
c.55141C>G (p.Pro18381Ala)
c.55138C>G (p.Pro18380Ala)
c.54571C>G (p.Pro18191Ala)
c.51913C>G (p.Pro17305Ala)
c.51832C>G (p.Pro17278Ala)
c.33595C>G (p.Pro11199Ala)
c.23449C>G (p.Pro7817Ala)
2g.178591025G>TCA349480175TTN,TTN-AS1c.52996C>A (p.Pro17666Thr)
c.34081C>A (p.Pro11361Thr)
c.33880C>A (p.Pro11294Thr)
c.33505C>A (p.Pro11169Thr)
c.60700C>A (p.Pro20234Thr)
c.55777C>A (p.Pro18593Thr)
n.597-6571G>T
n.3189-114G>T
c.59797C>A (p.Pro19933Thr)
c.33691C>A (p.Pro11231Thr)
c.33550C>A (p.Pro11184Thr)
c.59593C>A (p.Pro19865Thr)
c.54991C>A (p.Pro18331Thr)
c.54988C>A (p.Pro18330Thr)
c.52030C>A (p.Pro17344Thr)
c.33646C>A (p.Pro11216Thr)
c.55141C>A (p.Pro18381Thr)
c.55138C>A (p.Pro18380Thr)
c.54571C>A (p.Pro18191Thr)
c.51913C>A (p.Pro17305Thr)
c.51832C>A (p.Pro17278Thr)
c.33595C>A (p.Pro11199Thr)
c.23449C>A (p.Pro7817Thr)
2g.178591026G>ACA430266379TTN,TTN-AS1c.52995C>T (p.Ile17665=)
c.34080C>T (p.Ile11360=)
c.33879C>T (p.Ile11293=)
c.33504C>T (p.Ile11168=)
c.60699C>T (p.Ile20233=)
c.55776C>T (p.Ile18592=)
n.597-6570G>A
n.3189-113G>A
c.59796C>T (p.Ile19932=)
c.33690C>T (p.Ile11230=)
c.33549C>T (p.Ile11183=)
c.59592C>T (p.Ile19864=)
c.54990C>T (p.Ile18330=)
c.54987C>T (p.Ile18329=)
c.52029C>T (p.Ile17343=)
c.33645C>T (p.Ile11215=)
c.55140C>T (p.Ile18380=)
c.55137C>T (p.Ile18379=)
c.54570C>T (p.Ile18190=)
c.51912C>T (p.Ile17304=)
c.51831C>T (p.Ile17277=)
c.33594C>T (p.Ile11198=)
c.23448C>T (p.Ile7816=)
2g.178591026G>CCA349480176TTN,TTN-AS1c.52995C>G (p.Ile17665Met)
c.34080C>G (p.Ile11360Met)
c.33879C>G (p.Ile11293Met)
c.33504C>G (p.Ile11168Met)
c.60699C>G (p.Ile20233Met)
c.55776C>G (p.Ile18592Met)
n.597-6570G>C
n.3189-113G>C
c.59796C>G (p.Ile19932Met)
c.33690C>G (p.Ile11230Met)
c.33549C>G (p.Ile11183Met)
c.59592C>G (p.Ile19864Met)
c.54990C>G (p.Ile18330Met)
c.54987C>G (p.Ile18329Met)
c.52029C>G (p.Ile17343Met)
c.33645C>G (p.Ile11215Met)
c.55140C>G (p.Ile18380Met)
c.55137C>G (p.Ile18379Met)
c.54570C>G (p.Ile18190Met)
c.51912C>G (p.Ile17304Met)
c.51831C>G (p.Ile17277Met)
c.33594C>G (p.Ile11198Met)
c.23448C>G (p.Ile7816Met)
2g.178591026G>TCA430266378TTN,TTN-AS1c.52995C>A (p.Ile17665=)
c.34080C>A (p.Ile11360=)
c.33879C>A (p.Ile11293=)
c.33504C>A (p.Ile11168=)
c.60699C>A (p.Ile20233=)
c.55776C>A (p.Ile18592=)
n.597-6570G>T
n.3189-113G>T
c.59796C>A (p.Ile19932=)
c.33690C>A (p.Ile11230=)
c.33549C>A (p.Ile11183=)
c.59592C>A (p.Ile19864=)
c.54990C>A (p.Ile18330=)
c.54987C>A (p.Ile18329=)
c.52029C>A (p.Ile17343=)
c.33645C>A (p.Ile11215=)
c.55140C>A (p.Ile18380=)
c.55137C>A (p.Ile18379=)
c.54570C>A (p.Ile18190=)
c.51912C>A (p.Ile17304=)
c.51831C>A (p.Ile17277=)
c.33594C>A (p.Ile11198=)
c.23448C>A (p.Ile7816=)
 COSMIC COSMIC COSMIC COSMIC
2g.178591027A>CCA349480183TTN,TTN-AS1c.52994T>G (p.Ile17665Ser)
c.34079T>G (p.Ile11360Ser)
c.33878T>G (p.Ile11293Ser)
c.33503T>G (p.Ile11168Ser)
c.60698T>G (p.Ile20233Ser)
c.55775T>G (p.Ile18592Ser)
n.597-6569A>C
n.3189-112A>C
c.59795T>G (p.Ile19932Ser)
c.33689T>G (p.Ile11230Ser)
c.33548T>G (p.Ile11183Ser)
c.59591T>G (p.Ile19864Ser)
c.54989T>G (p.Ile18330Ser)
c.54986T>G (p.Ile18329Ser)
c.52028T>G (p.Ile17343Ser)
c.33644T>G (p.Ile11215Ser)
c.55139T>G (p.Ile18380Ser)
c.55136T>G (p.Ile18379Ser)
c.54569T>G (p.Ile18190Ser)
c.51911T>G (p.Ile17304Ser)
c.51830T>G (p.Ile17277Ser)
c.33593T>G (p.Ile11198Ser)
c.23447T>G (p.Ile7816Ser)
2g.178591027A>GCA349480185TTN,TTN-AS1c.52994T>C (p.Ile17665Thr)
c.34079T>C (p.Ile11360Thr)
c.33878T>C (p.Ile11293Thr)
c.33503T>C (p.Ile11168Thr)
c.60698T>C (p.Ile20233Thr)
c.55775T>C (p.Ile18592Thr)
n.597-6569A>G
n.3189-112A>G
c.59795T>C (p.Ile19932Thr)
c.33689T>C (p.Ile11230Thr)
c.33548T>C (p.Ile11183Thr)
c.59591T>C (p.Ile19864Thr)
c.54989T>C (p.Ile18330Thr)
c.54986T>C (p.Ile18329Thr)
c.52028T>C (p.Ile17343Thr)
c.33644T>C (p.Ile11215Thr)
c.55139T>C (p.Ile18380Thr)
c.55136T>C (p.Ile18379Thr)
c.54569T>C (p.Ile18190Thr)
c.51911T>C (p.Ile17304Thr)
c.51830T>C (p.Ile17277Thr)
c.33593T>C (p.Ile11198Thr)
c.23447T>C (p.Ile7816Thr)
2g.178591027A>TCA349480180TTN,TTN-AS1c.52994T>A (p.Ile17665Asn)
c.34079T>A (p.Ile11360Asn)
c.33878T>A (p.Ile11293Asn)
c.33503T>A (p.Ile11168Asn)
c.60698T>A (p.Ile20233Asn)
c.55775T>A (p.Ile18592Asn)
n.597-6569A>T
n.3189-112A>T
c.59795T>A (p.Ile19932Asn)
c.33689T>A (p.Ile11230Asn)
c.33548T>A (p.Ile11183Asn)
c.59591T>A (p.Ile19864Asn)
c.54989T>A (p.Ile18330Asn)
c.54986T>A (p.Ile18329Asn)
c.52028T>A (p.Ile17343Asn)
c.33644T>A (p.Ile11215Asn)
c.55139T>A (p.Ile18380Asn)
c.55136T>A (p.Ile18379Asn)
c.54569T>A (p.Ile18190Asn)
c.51911T>A (p.Ile17304Asn)
c.51830T>A (p.Ile17277Asn)
c.33593T>A (p.Ile11198Asn)
c.23447T>A (p.Ile7816Asn)
2g.178591028T>ACA349480189TTN,TTN-AS1c.52993A>T (p.Ile17665Phe)
c.34078A>T (p.Ile11360Phe)
c.33877A>T (p.Ile11293Phe)
c.33502A>T (p.Ile11168Phe)
c.60697A>T (p.Ile20233Phe)
c.55774A>T (p.Ile18592Phe)
n.597-6568T>A
n.3189-111T>A
c.59794A>T (p.Ile19932Phe)
c.33688A>T (p.Ile11230Phe)
c.33547A>T (p.Ile11183Phe)
c.59590A>T (p.Ile19864Phe)
c.54988A>T (p.Ile18330Phe)
c.54985A>T (p.Ile18329Phe)
c.52027A>T (p.Ile17343Phe)
c.33643A>T (p.Ile11215Phe)
c.55138A>T (p.Ile18380Phe)
c.55135A>T (p.Ile18379Phe)
c.54568A>T (p.Ile18190Phe)
c.51910A>T (p.Ile17304Phe)
c.51829A>T (p.Ile17277Phe)
c.33592A>T (p.Ile11198Phe)
c.23446A>T (p.Ile7816Phe)
2g.178591028T>CCA349480193TTN,TTN-AS1c.52993A>G (p.Ile17665Val)
c.34078A>G (p.Ile11360Val)
c.33877A>G (p.Ile11293Val)
c.33502A>G (p.Ile11168Val)
c.60697A>G (p.Ile20233Val)
c.55774A>G (p.Ile18592Val)
n.597-6568T>C
n.3189-111T>C
c.59794A>G (p.Ile19932Val)
c.33688A>G (p.Ile11230Val)
c.33547A>G (p.Ile11183Val)
c.59590A>G (p.Ile19864Val)
c.54988A>G (p.Ile18330Val)
c.54985A>G (p.Ile18329Val)
c.52027A>G (p.Ile17343Val)
c.33643A>G (p.Ile11215Val)
c.55138A>G (p.Ile18380Val)
c.55135A>G (p.Ile18379Val)
c.54568A>G (p.Ile18190Val)
c.51910A>G (p.Ile17304Val)
c.51829A>G (p.Ile17277Val)
c.33592A>G (p.Ile11198Val)
c.23446A>G (p.Ile7816Val)
 dbSNP gnomAD v2 gnomAD v4
2g.178591028T>GCA349480197TTN,TTN-AS1c.52993A>C (p.Ile17665Leu)
c.34078A>C (p.Ile11360Leu)
c.33877A>C (p.Ile11293Leu)
c.33502A>C (p.Ile11168Leu)
c.60697A>C (p.Ile20233Leu)
c.55774A>C (p.Ile18592Leu)
n.597-6568T>G
n.3189-111T>G
c.59794A>C (p.Ile19932Leu)
c.33688A>C (p.Ile11230Leu)
c.33547A>C (p.Ile11183Leu)
c.59590A>C (p.Ile19864Leu)
c.54988A>C (p.Ile18330Leu)
c.54985A>C (p.Ile18329Leu)
c.52027A>C (p.Ile17343Leu)
c.33643A>C (p.Ile11215Leu)
c.55138A>C (p.Ile18380Leu)
c.55135A>C (p.Ile18379Leu)
c.54568A>C (p.Ile18190Leu)
c.51910A>C (p.Ile17304Leu)
c.51829A>C (p.Ile17277Leu)
c.33592A>C (p.Ile11198Leu)
c.23446A>C (p.Ile7816Leu)
2g.178591028T=CA1310539766TTN,TTN-AS1c.52993A= (p.Ile17665=)
c.34078A= (p.Ile11360=)
c.33877A= (p.Ile11293=)
c.33502A= (p.Ile11168=)
c.60697A= (p.Ile20233=)
c.55774A= (p.Ile18592=)
n.597-6568T=
n.3189-111T=
c.59794A= (p.Ile19932=)
c.33688A= (p.Ile11230=)
c.33547A= (p.Ile11183=)
c.59590A= (p.Ile19864=)
c.54988A= (p.Ile18330=)
c.54985A= (p.Ile18329=)
c.52027A= (p.Ile17343=)
c.33643A= (p.Ile11215=)
c.55138A= (p.Ile18380=)
c.55135A= (p.Ile18379=)
c.54568A= (p.Ile18190=)
c.51910A= (p.Ile17304=)
c.51829A= (p.Ile17277=)
c.33592A= (p.Ile11198=)
c.23446A= (p.Ile7816=)
2g.178591029T>ACA349480200TTN,TTN-AS1c.52992A>T (p.Lys17664Asn)
c.34077A>T (p.Lys11359Asn)
c.33876A>T (p.Lys11292Asn)
c.33501A>T (p.Lys11167Asn)
c.60696A>T (p.Lys20232Asn)
c.55773A>T (p.Lys18591Asn)
n.597-6567T>A
n.3189-110T>A
c.59793A>T (p.Lys19931Asn)
c.33687A>T (p.Lys11229Asn)
c.33546A>T (p.Lys11182Asn)
c.59589A>T (p.Lys19863Asn)
c.54987A>T (p.Lys18329Asn)
c.54984A>T (p.Lys18328Asn)
c.52026A>T (p.Lys17342Asn)
c.33642A>T (p.Lys11214Asn)
c.55137A>T (p.Lys18379Asn)
c.55134A>T (p.Lys18378Asn)
c.54567A>T (p.Lys18189Asn)
c.51909A>T (p.Lys17303Asn)
c.51828A>T (p.Lys17276Asn)
c.33591A>T (p.Lys11197Asn)
c.23445A>T (p.Lys7815Asn)
2g.178591029T>CCA430266380TTN,TTN-AS1c.52992A>G (p.Lys17664=)
c.34077A>G (p.Lys11359=)
c.33876A>G (p.Lys11292=)
c.33501A>G (p.Lys11167=)
c.60696A>G (p.Lys20232=)
c.55773A>G (p.Lys18591=)
n.597-6567T>C
n.3189-110T>C
c.59793A>G (p.Lys19931=)
c.33687A>G (p.Lys11229=)
c.33546A>G (p.Lys11182=)
c.59589A>G (p.Lys19863=)
c.54987A>G (p.Lys18329=)
c.54984A>G (p.Lys18328=)
c.52026A>G (p.Lys17342=)
c.33642A>G (p.Lys11214=)
c.55137A>G (p.Lys18379=)
c.55134A>G (p.Lys18378=)
c.54567A>G (p.Lys18189=)
c.51909A>G (p.Lys17303=)
c.51828A>G (p.Lys17276=)
c.33591A>G (p.Lys11197=)
c.23445A>G (p.Lys7815=)
2g.178591029T>GCA349480204TTN,TTN-AS1c.52992A>C (p.Lys17664Asn)
c.34077A>C (p.Lys11359Asn)
c.33876A>C (p.Lys11292Asn)
c.33501A>C (p.Lys11167Asn)
c.60696A>C (p.Lys20232Asn)
c.55773A>C (p.Lys18591Asn)
n.597-6567T>G
n.3189-110T>G
c.59793A>C (p.Lys19931Asn)
c.33687A>C (p.Lys11229Asn)
c.33546A>C (p.Lys11182Asn)
c.59589A>C (p.Lys19863Asn)
c.54987A>C (p.Lys18329Asn)
c.54984A>C (p.Lys18328Asn)
c.52026A>C (p.Lys17342Asn)
c.33642A>C (p.Lys11214Asn)
c.55137A>C (p.Lys18379Asn)
c.55134A>C (p.Lys18378Asn)
c.54567A>C (p.Lys18189Asn)
c.51909A>C (p.Lys17303Asn)
c.51828A>C (p.Lys17276Asn)
c.33591A>C (p.Lys11197Asn)
c.23445A>C (p.Lys7815Asn)
2g.178591030T>ACA349480209TTN,TTN-AS1c.52991A>T (p.Lys17664Ile)
c.34076A>T (p.Lys11359Ile)
c.33875A>T (p.Lys11292Ile)
c.33500A>T (p.Lys11167Ile)
c.60695A>T (p.Lys20232Ile)
c.55772A>T (p.Lys18591Ile)
n.597-6566T>A
n.3189-109T>A
c.59792A>T (p.Lys19931Ile)
c.33686A>T (p.Lys11229Ile)
c.33545A>T (p.Lys11182Ile)
c.59588A>T (p.Lys19863Ile)
c.54986A>T (p.Lys18329Ile)
c.54983A>T (p.Lys18328Ile)
c.52025A>T (p.Lys17342Ile)
c.33641A>T (p.Lys11214Ile)
c.55136A>T (p.Lys18379Ile)
c.55133A>T (p.Lys18378Ile)
c.54566A>T (p.Lys18189Ile)
c.51908A>T (p.Lys17303Ile)
c.51827A>T (p.Lys17276Ile)
c.33590A>T (p.Lys11197Ile)
c.23444A>T (p.Lys7815Ile)
2g.178591030T>CCA349480214TTN,TTN-AS1c.52991A>G (p.Lys17664Arg)
c.34076A>G (p.Lys11359Arg)
c.33875A>G (p.Lys11292Arg)
c.33500A>G (p.Lys11167Arg)
c.60695A>G (p.Lys20232Arg)
c.55772A>G (p.Lys18591Arg)
n.597-6566T>C
n.3189-109T>C
c.59792A>G (p.Lys19931Arg)
c.33686A>G (p.Lys11229Arg)
c.33545A>G (p.Lys11182Arg)
c.59588A>G (p.Lys19863Arg)
c.54986A>G (p.Lys18329Arg)
c.54983A>G (p.Lys18328Arg)
c.52025A>G (p.Lys17342Arg)
c.33641A>G (p.Lys11214Arg)
c.55136A>G (p.Lys18379Arg)
c.55133A>G (p.Lys18378Arg)
c.54566A>G (p.Lys18189Arg)
c.51908A>G (p.Lys17303Arg)
c.51827A>G (p.Lys17276Arg)
c.33590A>G (p.Lys11197Arg)
c.23444A>G (p.Lys7815Arg)
2g.178591030T>GCA349480215TTN,TTN-AS1c.52991A>C (p.Lys17664Thr)
c.34076A>C (p.Lys11359Thr)
c.33875A>C (p.Lys11292Thr)
c.33500A>C (p.Lys11167Thr)
c.60695A>C (p.Lys20232Thr)
c.55772A>C (p.Lys18591Thr)
n.597-6566T>G
n.3189-109T>G
c.59792A>C (p.Lys19931Thr)
c.33686A>C (p.Lys11229Thr)
c.33545A>C (p.Lys11182Thr)
c.59588A>C (p.Lys19863Thr)
c.54986A>C (p.Lys18329Thr)
c.54983A>C (p.Lys18328Thr)
c.52025A>C (p.Lys17342Thr)
c.33641A>C (p.Lys11214Thr)
c.55136A>C (p.Lys18379Thr)
c.55133A>C (p.Lys18378Thr)
c.54566A>C (p.Lys18189Thr)
c.51908A>C (p.Lys17303Thr)
c.51827A>C (p.Lys17276Thr)
c.33590A>C (p.Lys11197Thr)
c.23444A>C (p.Lys7815Thr)
2g.178591031T>ACA349480218TTN,TTN-AS1c.52990A>T (p.Lys17664Ter)
c.34075A>T (p.Lys11359Ter)
c.33874A>T (p.Lys11292Ter)
c.33499A>T (p.Lys11167Ter)
c.60694A>T (p.Lys20232Ter)
c.55771A>T (p.Lys18591Ter)
n.597-6565T>A
n.3189-108T>A
c.59791A>T (p.Lys19931Ter)
c.33685A>T (p.Lys11229Ter)
c.33544A>T (p.Lys11182Ter)
c.59587A>T (p.Lys19863Ter)
c.54985A>T (p.Lys18329Ter)
c.54982A>T (p.Lys18328Ter)
c.52024A>T (p.Lys17342Ter)
c.33640A>T (p.Lys11214Ter)
c.55135A>T (p.Lys18379Ter)
c.55132A>T (p.Lys18378Ter)
c.54565A>T (p.Lys18189Ter)
c.51907A>T (p.Lys17303Ter)
c.51826A>T (p.Lys17276Ter)
c.33589A>T (p.Lys11197Ter)
c.23443A>T (p.Lys7815Ter)
2g.178591031T>CCA349480222TTN,TTN-AS1c.52990A>G (p.Lys17664Glu)
c.34075A>G (p.Lys11359Glu)
c.33874A>G (p.Lys11292Glu)
c.33499A>G (p.Lys11167Glu)
c.60694A>G (p.Lys20232Glu)
c.55771A>G (p.Lys18591Glu)
n.597-6565T>C
n.3189-108T>C
c.59791A>G (p.Lys19931Glu)
c.33685A>G (p.Lys11229Glu)
c.33544A>G (p.Lys11182Glu)
c.59587A>G (p.Lys19863Glu)
c.54985A>G (p.Lys18329Glu)
c.54982A>G (p.Lys18328Glu)
c.52024A>G (p.Lys17342Glu)
c.33640A>G (p.Lys11214Glu)
c.55135A>G (p.Lys18379Glu)
c.55132A>G (p.Lys18378Glu)
c.54565A>G (p.Lys18189Glu)
c.51907A>G (p.Lys17303Glu)
c.51826A>G (p.Lys17276Glu)
c.33589A>G (p.Lys11197Glu)
c.23443A>G (p.Lys7815Glu)
2g.178591031T>GCA349480239TTN,TTN-AS1c.52990A>C (p.Lys17664Gln)
c.34075A>C (p.Lys11359Gln)
c.33874A>C (p.Lys11292Gln)
c.33499A>C (p.Lys11167Gln)
c.60694A>C (p.Lys20232Gln)
c.55771A>C (p.Lys18591Gln)
n.597-6565T>G
n.3189-108T>G
c.59791A>C (p.Lys19931Gln)
c.33685A>C (p.Lys11229Gln)
c.33544A>C (p.Lys11182Gln)
c.59587A>C (p.Lys19863Gln)
c.54985A>C (p.Lys18329Gln)
c.54982A>C (p.Lys18328Gln)
c.52024A>C (p.Lys17342Gln)
c.33640A>C (p.Lys11214Gln)
c.55135A>C (p.Lys18379Gln)
c.55132A>C (p.Lys18378Gln)
c.54565A>C (p.Lys18189Gln)
c.51907A>C (p.Lys17303Gln)
c.51826A>C (p.Lys17276Gln)
c.33589A>C (p.Lys11197Gln)
c.23443A>C (p.Lys7815Gln)
2g.178591032C>ACA430266382TTN,TTN-AS1c.52989G>T (p.Leu17663=)
c.34074G>T (p.Leu11358=)
c.33873G>T (p.Leu11291=)
c.33498G>T (p.Leu11166=)
c.60693G>T (p.Leu20231=)
c.55770G>T (p.Leu18590=)
n.597-6564C>A
n.3189-107C>A
c.59790G>T (p.Leu19930=)
c.33684G>T (p.Leu11228=)
c.33543G>T (p.Leu11181=)
c.59586G>T (p.Leu19862=)
c.54984G>T (p.Leu18328=)
c.54981G>T (p.Leu18327=)
c.52023G>T (p.Leu17341=)
c.33639G>T (p.Leu11213=)
c.55134G>T (p.Leu18378=)
c.55131G>T (p.Leu18377=)
c.54564G>T (p.Leu18188=)
c.51906G>T (p.Leu17302=)
c.51825G>T (p.Leu17275=)
c.33588G>T (p.Leu11196=)
c.23442G>T (p.Leu7814=)
2g.178591032C>GCA430266384TTN,TTN-AS1c.52989G>C (p.Leu17663=)
c.34074G>C (p.Leu11358=)
c.33873G>C (p.Leu11291=)
c.33498G>C (p.Leu11166=)
c.60693G>C (p.Leu20231=)
c.55770G>C (p.Leu18590=)
n.597-6564C>G
n.3189-107C>G
c.59790G>C (p.Leu19930=)
c.33684G>C (p.Leu11228=)
c.33543G>C (p.Leu11181=)
c.59586G>C (p.Leu19862=)
c.54984G>C (p.Leu18328=)
c.54981G>C (p.Leu18327=)
c.52023G>C (p.Leu17341=)
c.33639G>C (p.Leu11213=)
c.55134G>C (p.Leu18378=)
c.55131G>C (p.Leu18377=)
c.54564G>C (p.Leu18188=)
c.51906G>C (p.Leu17302=)
c.51825G>C (p.Leu17275=)
c.33588G>C (p.Leu11196=)
c.23442G>C (p.Leu7814=)
2g.178591032C>TCA430266383TTN,TTN-AS1c.52989G>A (p.Leu17663=)
c.34074G>A (p.Leu11358=)
c.33873G>A (p.Leu11291=)
c.33498G>A (p.Leu11166=)
c.60693G>A (p.Leu20231=)
c.55770G>A (p.Leu18590=)
n.597-6564C>T
n.3189-107C>T
c.59790G>A (p.Leu19930=)
c.33684G>A (p.Leu11228=)
c.33543G>A (p.Leu11181=)
c.59586G>A (p.Leu19862=)
c.54984G>A (p.Leu18328=)
c.54981G>A (p.Leu18327=)
c.52023G>A (p.Leu17341=)
c.33639G>A (p.Leu11213=)
c.55134G>A (p.Leu18378=)
c.55131G>A (p.Leu18377=)
c.54564G>A (p.Leu18188=)
c.51906G>A (p.Leu17302=)
c.51825G>A (p.Leu17275=)
c.33588G>A (p.Leu11196=)
c.23442G>A (p.Leu7814=)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC

Number of alleles fetched