Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178537526G>ACA430239213TTN,TTN-AS1c.91977C>T (p.Ala30659=)
c.73062C>T (p.Ala24354=)
c.72861C>T (p.Ala24287=)
c.72486C>T (p.Ala24162=)
c.99681C>T (p.Ala33227=)
c.94758C>T (p.Ala31586=)
n.446+13890G>A
n.482G>A
c.98778C>T (p.Ala32926=)
c.72672C>T (p.Ala24224=)
c.72531C>T (p.Ala24177=)
c.98574C>T (p.Ala32858=)
c.93972C>T (p.Ala31324=)
c.93969C>T (p.Ala31323=)
c.91011C>T (p.Ala30337=)
c.72627C>T (p.Ala24209=)
c.94122C>T (p.Ala31374=)
c.94119C>T (p.Ala31373=)
c.93552C>T (p.Ala31184=)
c.90894C>T (p.Ala30298=)
c.90813C>T (p.Ala30271=)
c.72576C>T (p.Ala24192=)
c.62430C>T (p.Ala20810=)
2g.178537526G>CCA430239214TTN,TTN-AS1c.91977C>G (p.Ala30659=)
c.73062C>G (p.Ala24354=)
c.72861C>G (p.Ala24287=)
c.72486C>G (p.Ala24162=)
c.99681C>G (p.Ala33227=)
c.94758C>G (p.Ala31586=)
n.446+13890G>C
n.482G>C
c.98778C>G (p.Ala32926=)
c.72672C>G (p.Ala24224=)
c.72531C>G (p.Ala24177=)
c.98574C>G (p.Ala32858=)
c.93972C>G (p.Ala31324=)
c.93969C>G (p.Ala31323=)
c.91011C>G (p.Ala30337=)
c.72627C>G (p.Ala24209=)
c.94122C>G (p.Ala31374=)
c.94119C>G (p.Ala31373=)
c.93552C>G (p.Ala31184=)
c.90894C>G (p.Ala30298=)
c.90813C>G (p.Ala30271=)
c.72576C>G (p.Ala24192=)
c.62430C>G (p.Ala20810=)
 ClinVar
2g.178537526G>TCA430239215TTN,TTN-AS1c.91977C>A (p.Ala30659=)
c.73062C>A (p.Ala24354=)
c.72861C>A (p.Ala24287=)
c.72486C>A (p.Ala24162=)
c.99681C>A (p.Ala33227=)
c.94758C>A (p.Ala31586=)
n.446+13890G>T
n.482G>T
c.98778C>A (p.Ala32926=)
c.72672C>A (p.Ala24224=)
c.72531C>A (p.Ala24177=)
c.98574C>A (p.Ala32858=)
c.93972C>A (p.Ala31324=)
c.93969C>A (p.Ala31323=)
c.91011C>A (p.Ala30337=)
c.72627C>A (p.Ala24209=)
c.94122C>A (p.Ala31374=)
c.94119C>A (p.Ala31373=)
c.93552C>A (p.Ala31184=)
c.90894C>A (p.Ala30298=)
c.90813C>A (p.Ala30271=)
c.72576C>A (p.Ala24192=)
c.62430C>A (p.Ala20810=)
2g.178537527G>ACA349427700TTN,TTN-AS1c.91976C>T (p.Ala30659Val)
c.73061C>T (p.Ala24354Val)
c.72860C>T (p.Ala24287Val)
c.72485C>T (p.Ala24162Val)
c.99680C>T (p.Ala33227Val)
c.94757C>T (p.Ala31586Val)
n.446+13891G>A
n.483G>A
c.98777C>T (p.Ala32926Val)
c.72671C>T (p.Ala24224Val)
c.72530C>T (p.Ala24177Val)
c.98573C>T (p.Ala32858Val)
c.93971C>T (p.Ala31324Val)
c.93968C>T (p.Ala31323Val)
c.91010C>T (p.Ala30337Val)
c.72626C>T (p.Ala24209Val)
c.94121C>T (p.Ala31374Val)
c.94118C>T (p.Ala31373Val)
c.93551C>T (p.Ala31184Val)
c.90893C>T (p.Ala30298Val)
c.90812C>T (p.Ala30271Val)
c.72575C>T (p.Ala24192Val)
c.62429C>T (p.Ala20810Val)
 dbSNP gnomAD v2 gnomAD v4
2g.178537527G>CCA349427699TTN,TTN-AS1c.91976C>G (p.Ala30659Gly)
c.73061C>G (p.Ala24354Gly)
c.72860C>G (p.Ala24287Gly)
c.72485C>G (p.Ala24162Gly)
c.99680C>G (p.Ala33227Gly)
c.94757C>G (p.Ala31586Gly)
n.446+13891G>C
n.483G>C
c.98777C>G (p.Ala32926Gly)
c.72671C>G (p.Ala24224Gly)
c.72530C>G (p.Ala24177Gly)
c.98573C>G (p.Ala32858Gly)
c.93971C>G (p.Ala31324Gly)
c.93968C>G (p.Ala31323Gly)
c.91010C>G (p.Ala30337Gly)
c.72626C>G (p.Ala24209Gly)
c.94121C>G (p.Ala31374Gly)
c.94118C>G (p.Ala31373Gly)
c.93551C>G (p.Ala31184Gly)
c.90893C>G (p.Ala30298Gly)
c.90812C>G (p.Ala30271Gly)
c.72575C>G (p.Ala24192Gly)
c.62429C>G (p.Ala20810Gly)
2g.178537527G=CA1310515497TTN,TTN-AS1c.91976C= (p.Ala30659=)
c.73061C= (p.Ala24354=)
c.72860C= (p.Ala24287=)
c.72485C= (p.Ala24162=)
c.99680C= (p.Ala33227=)
c.94757C= (p.Ala31586=)
n.446+13891G=
n.483G=
c.98777C= (p.Ala32926=)
c.72671C= (p.Ala24224=)
c.72530C= (p.Ala24177=)
c.98573C= (p.Ala32858=)
c.93971C= (p.Ala31324=)
c.93968C= (p.Ala31323=)
c.91010C= (p.Ala30337=)
c.72626C= (p.Ala24209=)
c.94121C= (p.Ala31374=)
c.94118C= (p.Ala31373=)
c.93551C= (p.Ala31184=)
c.90893C= (p.Ala30298=)
c.90812C= (p.Ala30271=)
c.72575C= (p.Ala24192=)
c.62429C= (p.Ala20810=)
2g.178537527G>TCA349427698TTN,TTN-AS1c.91976C>A (p.Ala30659Asp)
c.73061C>A (p.Ala24354Asp)
c.72860C>A (p.Ala24287Asp)
c.72485C>A (p.Ala24162Asp)
c.99680C>A (p.Ala33227Asp)
c.94757C>A (p.Ala31586Asp)
n.446+13891G>T
n.483G>T
c.98777C>A (p.Ala32926Asp)
c.72671C>A (p.Ala24224Asp)
c.72530C>A (p.Ala24177Asp)
c.98573C>A (p.Ala32858Asp)
c.93971C>A (p.Ala31324Asp)
c.93968C>A (p.Ala31323Asp)
c.91010C>A (p.Ala30337Asp)
c.72626C>A (p.Ala24209Asp)
c.94121C>A (p.Ala31374Asp)
c.94118C>A (p.Ala31373Asp)
c.93551C>A (p.Ala31184Asp)
c.90893C>A (p.Ala30298Asp)
c.90812C>A (p.Ala30271Asp)
c.72575C>A (p.Ala24192Asp)
c.62429C>A (p.Ala20810Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178537528C>ACA349427703TTN,TTN-AS1c.91975G>T (p.Ala30659Ser)
c.73060G>T (p.Ala24354Ser)
c.72859G>T (p.Ala24287Ser)
c.72484G>T (p.Ala24162Ser)
c.99679G>T (p.Ala33227Ser)
c.94756G>T (p.Ala31586Ser)
n.446+13892C>A
n.484C>A
c.98776G>T (p.Ala32926Ser)
c.72670G>T (p.Ala24224Ser)
c.72529G>T (p.Ala24177Ser)
c.98572G>T (p.Ala32858Ser)
c.93970G>T (p.Ala31324Ser)
c.93967G>T (p.Ala31323Ser)
c.91009G>T (p.Ala30337Ser)
c.72625G>T (p.Ala24209Ser)
c.94120G>T (p.Ala31374Ser)
c.94117G>T (p.Ala31373Ser)
c.93550G>T (p.Ala31184Ser)
c.90892G>T (p.Ala30298Ser)
c.90811G>T (p.Ala30271Ser)
c.72574G>T (p.Ala24192Ser)
c.62428G>T (p.Ala20810Ser)
2g.178537528C>GCA349427701TTN,TTN-AS1c.91975G>C (p.Ala30659Pro)
c.73060G>C (p.Ala24354Pro)
c.72859G>C (p.Ala24287Pro)
c.72484G>C (p.Ala24162Pro)
c.99679G>C (p.Ala33227Pro)
c.94756G>C (p.Ala31586Pro)
n.446+13892C>G
n.484C>G
c.98776G>C (p.Ala32926Pro)
c.72670G>C (p.Ala24224Pro)
c.72529G>C (p.Ala24177Pro)
c.98572G>C (p.Ala32858Pro)
c.93970G>C (p.Ala31324Pro)
c.93967G>C (p.Ala31323Pro)
c.91009G>C (p.Ala30337Pro)
c.72625G>C (p.Ala24209Pro)
c.94120G>C (p.Ala31374Pro)
c.94117G>C (p.Ala31373Pro)
c.93550G>C (p.Ala31184Pro)
c.90892G>C (p.Ala30298Pro)
c.90811G>C (p.Ala30271Pro)
c.72574G>C (p.Ala24192Pro)
c.62428G>C (p.Ala20810Pro)
2g.178537528C>TCA349427702TTN,TTN-AS1c.91975G>A (p.Ala30659Thr)
c.73060G>A (p.Ala24354Thr)
c.72859G>A (p.Ala24287Thr)
c.72484G>A (p.Ala24162Thr)
c.99679G>A (p.Ala33227Thr)
c.94756G>A (p.Ala31586Thr)
n.446+13892C>T
n.484C>T
c.98776G>A (p.Ala32926Thr)
c.72670G>A (p.Ala24224Thr)
c.72529G>A (p.Ala24177Thr)
c.98572G>A (p.Ala32858Thr)
c.93970G>A (p.Ala31324Thr)
c.93967G>A (p.Ala31323Thr)
c.91009G>A (p.Ala30337Thr)
c.72625G>A (p.Ala24209Thr)
c.94120G>A (p.Ala31374Thr)
c.94117G>A (p.Ala31373Thr)
c.93550G>A (p.Ala31184Thr)
c.90892G>A (p.Ala30298Thr)
c.90811G>A (p.Ala30271Thr)
c.72574G>A (p.Ala24192Thr)
c.62428G>A (p.Ala20810Thr)
2g.178537529A>CCA430239220TTN,TTN-AS1c.91974T>G (p.Pro30658=)
c.73059T>G (p.Pro24353=)
c.72858T>G (p.Pro24286=)
c.72483T>G (p.Pro24161=)
c.99678T>G (p.Pro33226=)
c.94755T>G (p.Pro31585=)
n.446+13893A>C
n.485A>C
c.98775T>G (p.Pro32925=)
c.72669T>G (p.Pro24223=)
c.72528T>G (p.Pro24176=)
c.98571T>G (p.Pro32857=)
c.93969T>G (p.Pro31323=)
c.93966T>G (p.Pro31322=)
c.91008T>G (p.Pro30336=)
c.72624T>G (p.Pro24208=)
c.94119T>G (p.Pro31373=)
c.94116T>G (p.Pro31372=)
c.93549T>G (p.Pro31183=)
c.90891T>G (p.Pro30297=)
c.90810T>G (p.Pro30270=)
c.72573T>G (p.Pro24191=)
c.62427T>G (p.Pro20809=)
2g.178537529A>GCA430239222TTN,TTN-AS1c.91974T>C (p.Pro30658=)
c.73059T>C (p.Pro24353=)
c.72858T>C (p.Pro24286=)
c.72483T>C (p.Pro24161=)
c.99678T>C (p.Pro33226=)
c.94755T>C (p.Pro31585=)
n.446+13893A>G
n.485A>G
c.98775T>C (p.Pro32925=)
c.72669T>C (p.Pro24223=)
c.72528T>C (p.Pro24176=)
c.98571T>C (p.Pro32857=)
c.93969T>C (p.Pro31323=)
c.93966T>C (p.Pro31322=)
c.91008T>C (p.Pro30336=)
c.72624T>C (p.Pro24208=)
c.94119T>C (p.Pro31373=)
c.94116T>C (p.Pro31372=)
c.93549T>C (p.Pro31183=)
c.90891T>C (p.Pro30297=)
c.90810T>C (p.Pro30270=)
c.72573T>C (p.Pro24191=)
c.62427T>C (p.Pro20809=)
2g.178537529A>TCA430239223TTN,TTN-AS1c.91974T>A (p.Pro30658=)
c.73059T>A (p.Pro24353=)
c.72858T>A (p.Pro24286=)
c.72483T>A (p.Pro24161=)
c.99678T>A (p.Pro33226=)
c.94755T>A (p.Pro31585=)
n.446+13893A>T
n.485A>T
c.98775T>A (p.Pro32925=)
c.72669T>A (p.Pro24223=)
c.72528T>A (p.Pro24176=)
c.98571T>A (p.Pro32857=)
c.93969T>A (p.Pro31323=)
c.93966T>A (p.Pro31322=)
c.91008T>A (p.Pro30336=)
c.72624T>A (p.Pro24208=)
c.94119T>A (p.Pro31373=)
c.94116T>A (p.Pro31372=)
c.93549T>A (p.Pro31183=)
c.90891T>A (p.Pro30297=)
c.90810T>A (p.Pro30270=)
c.72573T>A (p.Pro24191=)
c.62427T>A (p.Pro20809=)
2g.178537530G>ACA349427704TTN,TTN-AS1c.91973C>T (p.Pro30658Leu)
c.73058C>T (p.Pro24353Leu)
c.72857C>T (p.Pro24286Leu)
c.72482C>T (p.Pro24161Leu)
c.99677C>T (p.Pro33226Leu)
c.94754C>T (p.Pro31585Leu)
n.446+13894G>A
n.486G>A
c.98774C>T (p.Pro32925Leu)
c.72668C>T (p.Pro24223Leu)
c.72527C>T (p.Pro24176Leu)
c.98570C>T (p.Pro32857Leu)
c.93968C>T (p.Pro31323Leu)
c.93965C>T (p.Pro31322Leu)
c.91007C>T (p.Pro30336Leu)
c.72623C>T (p.Pro24208Leu)
c.94118C>T (p.Pro31373Leu)
c.94115C>T (p.Pro31372Leu)
c.93548C>T (p.Pro31183Leu)
c.90890C>T (p.Pro30297Leu)
c.90809C>T (p.Pro30270Leu)
c.72572C>T (p.Pro24191Leu)
c.62426C>T (p.Pro20809Leu)
2g.178537530G>CCA349427705TTN,TTN-AS1c.91973C>G (p.Pro30658Arg)
c.73058C>G (p.Pro24353Arg)
c.72857C>G (p.Pro24286Arg)
c.72482C>G (p.Pro24161Arg)
c.99677C>G (p.Pro33226Arg)
c.94754C>G (p.Pro31585Arg)
n.446+13894G>C
n.486G>C
c.98774C>G (p.Pro32925Arg)
c.72668C>G (p.Pro24223Arg)
c.72527C>G (p.Pro24176Arg)
c.98570C>G (p.Pro32857Arg)
c.93968C>G (p.Pro31323Arg)
c.93965C>G (p.Pro31322Arg)
c.91007C>G (p.Pro30336Arg)
c.72623C>G (p.Pro24208Arg)
c.94118C>G (p.Pro31373Arg)
c.94115C>G (p.Pro31372Arg)
c.93548C>G (p.Pro31183Arg)
c.90890C>G (p.Pro30297Arg)
c.90809C>G (p.Pro30270Arg)
c.72572C>G (p.Pro24191Arg)
c.62426C>G (p.Pro20809Arg)
2g.178537530G>TCA349427706TTN,TTN-AS1c.91973C>A (p.Pro30658His)
c.73058C>A (p.Pro24353His)
c.72857C>A (p.Pro24286His)
c.72482C>A (p.Pro24161His)
c.99677C>A (p.Pro33226His)
c.94754C>A (p.Pro31585His)
n.446+13894G>T
n.486G>T
c.98774C>A (p.Pro32925His)
c.72668C>A (p.Pro24223His)
c.72527C>A (p.Pro24176His)
c.98570C>A (p.Pro32857His)
c.93968C>A (p.Pro31323His)
c.93965C>A (p.Pro31322His)
c.91007C>A (p.Pro30336His)
c.72623C>A (p.Pro24208His)
c.94118C>A (p.Pro31373His)
c.94115C>A (p.Pro31372His)
c.93548C>A (p.Pro31183His)
c.90890C>A (p.Pro30297His)
c.90809C>A (p.Pro30270His)
c.72572C>A (p.Pro24191His)
c.62426C>A (p.Pro20809His)
2g.178537531G>ACA349427707TTN,TTN-AS1c.91972C>T (p.Pro30658Ser)
c.73057C>T (p.Pro24353Ser)
c.72856C>T (p.Pro24286Ser)
c.72481C>T (p.Pro24161Ser)
c.99676C>T (p.Pro33226Ser)
c.94753C>T (p.Pro31585Ser)
n.446+13895G>A
n.487G>A
c.98773C>T (p.Pro32925Ser)
c.72667C>T (p.Pro24223Ser)
c.72526C>T (p.Pro24176Ser)
c.98569C>T (p.Pro32857Ser)
c.93967C>T (p.Pro31323Ser)
c.93964C>T (p.Pro31322Ser)
c.91006C>T (p.Pro30336Ser)
c.72622C>T (p.Pro24208Ser)
c.94117C>T (p.Pro31373Ser)
c.94114C>T (p.Pro31372Ser)
c.93547C>T (p.Pro31183Ser)
c.90889C>T (p.Pro30297Ser)
c.90808C>T (p.Pro30270Ser)
c.72571C>T (p.Pro24191Ser)
c.62425C>T (p.Pro20809Ser)
 gnomAD v4
2g.178537531G>CCA349427708TTN,TTN-AS1c.91972C>G (p.Pro30658Ala)
c.73057C>G (p.Pro24353Ala)
c.72856C>G (p.Pro24286Ala)
c.72481C>G (p.Pro24161Ala)
c.99676C>G (p.Pro33226Ala)
c.94753C>G (p.Pro31585Ala)
n.446+13895G>C
n.487G>C
c.98773C>G (p.Pro32925Ala)
c.72667C>G (p.Pro24223Ala)
c.72526C>G (p.Pro24176Ala)
c.98569C>G (p.Pro32857Ala)
c.93967C>G (p.Pro31323Ala)
c.93964C>G (p.Pro31322Ala)
c.91006C>G (p.Pro30336Ala)
c.72622C>G (p.Pro24208Ala)
c.94117C>G (p.Pro31373Ala)
c.94114C>G (p.Pro31372Ala)
c.93547C>G (p.Pro31183Ala)
c.90889C>G (p.Pro30297Ala)
c.90808C>G (p.Pro30270Ala)
c.72571C>G (p.Pro24191Ala)
c.62425C>G (p.Pro20809Ala)
2g.178537531G>TCA349427709TTN,TTN-AS1c.91972C>A (p.Pro30658Thr)
c.73057C>A (p.Pro24353Thr)
c.72856C>A (p.Pro24286Thr)
c.72481C>A (p.Pro24161Thr)
c.99676C>A (p.Pro33226Thr)
c.94753C>A (p.Pro31585Thr)
n.446+13895G>T
n.487G>T
c.98773C>A (p.Pro32925Thr)
c.72667C>A (p.Pro24223Thr)
c.72526C>A (p.Pro24176Thr)
c.98569C>A (p.Pro32857Thr)
c.93967C>A (p.Pro31323Thr)
c.93964C>A (p.Pro31322Thr)
c.91006C>A (p.Pro30336Thr)
c.72622C>A (p.Pro24208Thr)
c.94117C>A (p.Pro31373Thr)
c.94114C>A (p.Pro31372Thr)
c.93547C>A (p.Pro31183Thr)
c.90889C>A (p.Pro30297Thr)
c.90808C>A (p.Pro30270Thr)
c.72571C>A (p.Pro24191Thr)
c.62425C>A (p.Pro20809Thr)
2g.178537532T>ACA430239226TTN,TTN-AS1c.91971A>T (p.Val30657=)
c.73056A>T (p.Val24352=)
c.72855A>T (p.Val24285=)
c.72480A>T (p.Val24160=)
c.99675A>T (p.Val33225=)
c.94752A>T (p.Val31584=)
n.446+13896T>A
n.488T>A
c.98772A>T (p.Val32924=)
c.72666A>T (p.Val24222=)
c.72525A>T (p.Val24175=)
c.98568A>T (p.Val32856=)
c.93966A>T (p.Val31322=)
c.93963A>T (p.Val31321=)
c.91005A>T (p.Val30335=)
c.72621A>T (p.Val24207=)
c.94116A>T (p.Val31372=)
c.94113A>T (p.Val31371=)
c.93546A>T (p.Val31182=)
c.90888A>T (p.Val30296=)
c.90807A>T (p.Val30269=)
c.72570A>T (p.Val24190=)
c.62424A>T (p.Val20808=)
2g.178537532T>CCA430239227TTN,TTN-AS1c.91971A>G (p.Val30657=)
c.73056A>G (p.Val24352=)
c.72855A>G (p.Val24285=)
c.72480A>G (p.Val24160=)
c.99675A>G (p.Val33225=)
c.94752A>G (p.Val31584=)
n.446+13896T>C
n.488T>C
c.98772A>G (p.Val32924=)
c.72666A>G (p.Val24222=)
c.72525A>G (p.Val24175=)
c.98568A>G (p.Val32856=)
c.93966A>G (p.Val31322=)
c.93963A>G (p.Val31321=)
c.91005A>G (p.Val30335=)
c.72621A>G (p.Val24207=)
c.94116A>G (p.Val31372=)
c.94113A>G (p.Val31371=)
c.93546A>G (p.Val31182=)
c.90888A>G (p.Val30296=)
c.90807A>G (p.Val30269=)
c.72570A>G (p.Val24190=)
c.62424A>G (p.Val20808=)
 gnomAD v4
2g.178537532T>GCA1986157TTN,TTN-AS1c.91971A>C (p.Val30657=)
c.73056A>C (p.Val24352=)
c.72855A>C (p.Val24285=)
c.72480A>C (p.Val24160=)
c.99675A>C (p.Val33225=)
c.94752A>C (p.Val31584=)
n.446+13896T>G
n.488T>G
c.98772A>C (p.Val32924=)
c.72666A>C (p.Val24222=)
c.72525A>C (p.Val24175=)
c.98568A>C (p.Val32856=)
c.93966A>C (p.Val31322=)
c.93963A>C (p.Val31321=)
c.91005A>C (p.Val30335=)
c.72621A>C (p.Val24207=)
c.94116A>C (p.Val31372=)
c.94113A>C (p.Val31371=)
c.93546A>C (p.Val31182=)
c.90888A>C (p.Val30296=)
c.90807A>C (p.Val30269=)
c.72570A>C (p.Val24190=)
c.62424A>C (p.Val20808=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178537532T=CA1310515498TTN,TTN-AS1c.91971A= (p.Val30657=)
c.73056A= (p.Val24352=)
c.72855A= (p.Val24285=)
c.72480A= (p.Val24160=)
c.99675A= (p.Val33225=)
c.94752A= (p.Val31584=)
n.446+13896T=
n.488T=
c.98772A= (p.Val32924=)
c.72666A= (p.Val24222=)
c.72525A= (p.Val24175=)
c.98568A= (p.Val32856=)
c.93966A= (p.Val31322=)
c.93963A= (p.Val31321=)
c.91005A= (p.Val30335=)
c.72621A= (p.Val24207=)
c.94116A= (p.Val31372=)
c.94113A= (p.Val31371=)
c.93546A= (p.Val31182=)
c.90888A= (p.Val30296=)
c.90807A= (p.Val30269=)
c.72570A= (p.Val24190=)
c.62424A= (p.Val20808=)
2g.178537533A>CCA349427710TTN,TTN-AS1c.91970T>G (p.Val30657Gly)
c.73055T>G (p.Val24352Gly)
c.72854T>G (p.Val24285Gly)
c.72479T>G (p.Val24160Gly)
c.99674T>G (p.Val33225Gly)
c.94751T>G (p.Val31584Gly)
n.446+13897A>C
n.489A>C
c.98771T>G (p.Val32924Gly)
c.72665T>G (p.Val24222Gly)
c.72524T>G (p.Val24175Gly)
c.98567T>G (p.Val32856Gly)
c.93965T>G (p.Val31322Gly)
c.93962T>G (p.Val31321Gly)
c.91004T>G (p.Val30335Gly)
c.72620T>G (p.Val24207Gly)
c.94115T>G (p.Val31372Gly)
c.94112T>G (p.Val31371Gly)
c.93545T>G (p.Val31182Gly)
c.90887T>G (p.Val30296Gly)
c.90806T>G (p.Val30269Gly)
c.72569T>G (p.Val24190Gly)
c.62423T>G (p.Val20808Gly)
2g.178537533A>GCA349427711TTN,TTN-AS1c.91970T>C (p.Val30657Ala)
c.73055T>C (p.Val24352Ala)
c.72854T>C (p.Val24285Ala)
c.72479T>C (p.Val24160Ala)
c.99674T>C (p.Val33225Ala)
c.94751T>C (p.Val31584Ala)
n.446+13897A>G
n.489A>G
c.98771T>C (p.Val32924Ala)
c.72665T>C (p.Val24222Ala)
c.72524T>C (p.Val24175Ala)
c.98567T>C (p.Val32856Ala)
c.93965T>C (p.Val31322Ala)
c.93962T>C (p.Val31321Ala)
c.91004T>C (p.Val30335Ala)
c.72620T>C (p.Val24207Ala)
c.94115T>C (p.Val31372Ala)
c.94112T>C (p.Val31371Ala)
c.93545T>C (p.Val31182Ala)
c.90887T>C (p.Val30296Ala)
c.90806T>C (p.Val30269Ala)
c.72569T>C (p.Val24190Ala)
c.62423T>C (p.Val20808Ala)
2g.178537533A>TCA349427712TTN,TTN-AS1c.91970T>A (p.Val30657Glu)
c.73055T>A (p.Val24352Glu)
c.72854T>A (p.Val24285Glu)
c.72479T>A (p.Val24160Glu)
c.99674T>A (p.Val33225Glu)
c.94751T>A (p.Val31584Glu)
n.446+13897A>T
n.489A>T
c.98771T>A (p.Val32924Glu)
c.72665T>A (p.Val24222Glu)
c.72524T>A (p.Val24175Glu)
c.98567T>A (p.Val32856Glu)
c.93965T>A (p.Val31322Glu)
c.93962T>A (p.Val31321Glu)
c.91004T>A (p.Val30335Glu)
c.72620T>A (p.Val24207Glu)
c.94115T>A (p.Val31372Glu)
c.94112T>A (p.Val31371Glu)
c.93545T>A (p.Val31182Glu)
c.90887T>A (p.Val30296Glu)
c.90806T>A (p.Val30269Glu)
c.72569T>A (p.Val24190Glu)
c.62423T>A (p.Val20808Glu)
2g.178537534C>ACA349427713TTN,TTN-AS1c.91969G>T (p.Val30657Leu)
c.73054G>T (p.Val24352Leu)
c.72853G>T (p.Val24285Leu)
c.72478G>T (p.Val24160Leu)
c.99673G>T (p.Val33225Leu)
c.94750G>T (p.Val31584Leu)
n.446+13898C>A
n.490C>A
c.98770G>T (p.Val32924Leu)
c.72664G>T (p.Val24222Leu)
c.72523G>T (p.Val24175Leu)
c.98566G>T (p.Val32856Leu)
c.93964G>T (p.Val31322Leu)
c.93961G>T (p.Val31321Leu)
c.91003G>T (p.Val30335Leu)
c.72619G>T (p.Val24207Leu)
c.94114G>T (p.Val31372Leu)
c.94111G>T (p.Val31371Leu)
c.93544G>T (p.Val31182Leu)
c.90886G>T (p.Val30296Leu)
c.90805G>T (p.Val30269Leu)
c.72568G>T (p.Val24190Leu)
c.62422G>T (p.Val20808Leu)
2g.178537534C>GCA349427714TTN,TTN-AS1c.91969G>C (p.Val30657Leu)
c.73054G>C (p.Val24352Leu)
c.72853G>C (p.Val24285Leu)
c.72478G>C (p.Val24160Leu)
c.99673G>C (p.Val33225Leu)
c.94750G>C (p.Val31584Leu)
n.446+13898C>G
n.490C>G
c.98770G>C (p.Val32924Leu)
c.72664G>C (p.Val24222Leu)
c.72523G>C (p.Val24175Leu)
c.98566G>C (p.Val32856Leu)
c.93964G>C (p.Val31322Leu)
c.93961G>C (p.Val31321Leu)
c.91003G>C (p.Val30335Leu)
c.72619G>C (p.Val24207Leu)
c.94114G>C (p.Val31372Leu)
c.94111G>C (p.Val31371Leu)
c.93544G>C (p.Val31182Leu)
c.90886G>C (p.Val30296Leu)
c.90805G>C (p.Val30269Leu)
c.72568G>C (p.Val24190Leu)
c.62422G>C (p.Val20808Leu)
2g.178537534C>TCA349427715TTN,TTN-AS1c.91969G>A (p.Val30657Ile)
c.73054G>A (p.Val24352Ile)
c.72853G>A (p.Val24285Ile)
c.72478G>A (p.Val24160Ile)
c.99673G>A (p.Val33225Ile)
c.94750G>A (p.Val31584Ile)
n.446+13898C>T
n.490C>T
c.98770G>A (p.Val32924Ile)
c.72664G>A (p.Val24222Ile)
c.72523G>A (p.Val24175Ile)
c.98566G>A (p.Val32856Ile)
c.93964G>A (p.Val31322Ile)
c.93961G>A (p.Val31321Ile)
c.91003G>A (p.Val30335Ile)
c.72619G>A (p.Val24207Ile)
c.94114G>A (p.Val31372Ile)
c.94111G>A (p.Val31371Ile)
c.93544G>A (p.Val31182Ile)
c.90886G>A (p.Val30296Ile)
c.90805G>A (p.Val30269Ile)
c.72568G>A (p.Val24190Ile)
c.62422G>A (p.Val20808Ile)
 gnomAD v4
2g.178537535T>ACA430239233TTN,TTN-AS1c.91968A>T (p.Pro30656=)
c.73053A>T (p.Pro24351=)
c.72852A>T (p.Pro24284=)
c.72477A>T (p.Pro24159=)
c.99672A>T (p.Pro33224=)
c.94749A>T (p.Pro31583=)
n.446+13899T>A
n.491T>A
c.98769A>T (p.Pro32923=)
c.72663A>T (p.Pro24221=)
c.72522A>T (p.Pro24174=)
c.98565A>T (p.Pro32855=)
c.93963A>T (p.Pro31321=)
c.93960A>T (p.Pro31320=)
c.91002A>T (p.Pro30334=)
c.72618A>T (p.Pro24206=)
c.94113A>T (p.Pro31371=)
c.94110A>T (p.Pro31370=)
c.93543A>T (p.Pro31181=)
c.90885A>T (p.Pro30295=)
c.90804A>T (p.Pro30268=)
c.72567A>T (p.Pro24189=)
c.62421A>T (p.Pro20807=)
2g.178537535T>CCA430239236TTN,TTN-AS1c.91968A>G (p.Pro30656=)
c.73053A>G (p.Pro24351=)
c.72852A>G (p.Pro24284=)
c.72477A>G (p.Pro24159=)
c.99672A>G (p.Pro33224=)
c.94749A>G (p.Pro31583=)
n.446+13899T>C
n.491T>C
c.98769A>G (p.Pro32923=)
c.72663A>G (p.Pro24221=)
c.72522A>G (p.Pro24174=)
c.98565A>G (p.Pro32855=)
c.93963A>G (p.Pro31321=)
c.93960A>G (p.Pro31320=)
c.91002A>G (p.Pro30334=)
c.72618A>G (p.Pro24206=)
c.94113A>G (p.Pro31371=)
c.94110A>G (p.Pro31370=)
c.93543A>G (p.Pro31181=)
c.90885A>G (p.Pro30295=)
c.90804A>G (p.Pro30268=)
c.72567A>G (p.Pro24189=)
c.62421A>G (p.Pro20807=)
 dbSNP gnomAD v2 gnomAD v4
2g.178537535T>GCA430239237TTN,TTN-AS1c.91968A>C (p.Pro30656=)
c.73053A>C (p.Pro24351=)
c.72852A>C (p.Pro24284=)
c.72477A>C (p.Pro24159=)
c.99672A>C (p.Pro33224=)
c.94749A>C (p.Pro31583=)
n.446+13899T>G
n.491T>G
c.98769A>C (p.Pro32923=)
c.72663A>C (p.Pro24221=)
c.72522A>C (p.Pro24174=)
c.98565A>C (p.Pro32855=)
c.93963A>C (p.Pro31321=)
c.93960A>C (p.Pro31320=)
c.91002A>C (p.Pro30334=)
c.72618A>C (p.Pro24206=)
c.94113A>C (p.Pro31371=)
c.94110A>C (p.Pro31370=)
c.93543A>C (p.Pro31181=)
c.90885A>C (p.Pro30295=)
c.90804A>C (p.Pro30268=)
c.72567A>C (p.Pro24189=)
c.62421A>C (p.Pro20807=)
2g.178537535T=CA1310515499TTN,TTN-AS1c.91968A= (p.Pro30656=)
c.73053A= (p.Pro24351=)
c.72852A= (p.Pro24284=)
c.72477A= (p.Pro24159=)
c.99672A= (p.Pro33224=)
c.94749A= (p.Pro31583=)
n.446+13899T=
n.491T=
c.98769A= (p.Pro32923=)
c.72663A= (p.Pro24221=)
c.72522A= (p.Pro24174=)
c.98565A= (p.Pro32855=)
c.93963A= (p.Pro31321=)
c.93960A= (p.Pro31320=)
c.91002A= (p.Pro30334=)
c.72618A= (p.Pro24206=)
c.94113A= (p.Pro31371=)
c.94110A= (p.Pro31370=)
c.93543A= (p.Pro31181=)
c.90885A= (p.Pro30295=)
c.90804A= (p.Pro30268=)
c.72567A= (p.Pro24189=)
c.62421A= (p.Pro20807=)
2g.178537536G>ACA349427716TTN,TTN-AS1c.91967C>T (p.Pro30656Leu)
c.73052C>T (p.Pro24351Leu)
c.72851C>T (p.Pro24284Leu)
c.72476C>T (p.Pro24159Leu)
c.99671C>T (p.Pro33224Leu)
c.94748C>T (p.Pro31583Leu)
n.446+13900G>A
n.492G>A
c.98768C>T (p.Pro32923Leu)
c.72662C>T (p.Pro24221Leu)
c.72521C>T (p.Pro24174Leu)
c.98564C>T (p.Pro32855Leu)
c.93962C>T (p.Pro31321Leu)
c.93959C>T (p.Pro31320Leu)
c.91001C>T (p.Pro30334Leu)
c.72617C>T (p.Pro24206Leu)
c.94112C>T (p.Pro31371Leu)
c.94109C>T (p.Pro31370Leu)
c.93542C>T (p.Pro31181Leu)
c.90884C>T (p.Pro30295Leu)
c.90803C>T (p.Pro30268Leu)
c.72566C>T (p.Pro24189Leu)
c.62420C>T (p.Pro20807Leu)
2g.178537536G>CCA349427718TTN,TTN-AS1c.91967C>G (p.Pro30656Arg)
c.73052C>G (p.Pro24351Arg)
c.72851C>G (p.Pro24284Arg)
c.72476C>G (p.Pro24159Arg)
c.99671C>G (p.Pro33224Arg)
c.94748C>G (p.Pro31583Arg)
n.446+13900G>C
n.492G>C
c.98768C>G (p.Pro32923Arg)
c.72662C>G (p.Pro24221Arg)
c.72521C>G (p.Pro24174Arg)
c.98564C>G (p.Pro32855Arg)
c.93962C>G (p.Pro31321Arg)
c.93959C>G (p.Pro31320Arg)
c.91001C>G (p.Pro30334Arg)
c.72617C>G (p.Pro24206Arg)
c.94112C>G (p.Pro31371Arg)
c.94109C>G (p.Pro31370Arg)
c.93542C>G (p.Pro31181Arg)
c.90884C>G (p.Pro30295Arg)
c.90803C>G (p.Pro30268Arg)
c.72566C>G (p.Pro24189Arg)
c.62420C>G (p.Pro20807Arg)
2g.178537536G>TCA349427717TTN,TTN-AS1c.91967C>A (p.Pro30656Gln)
c.73052C>A (p.Pro24351Gln)
c.72851C>A (p.Pro24284Gln)
c.72476C>A (p.Pro24159Gln)
c.99671C>A (p.Pro33224Gln)
c.94748C>A (p.Pro31583Gln)
n.446+13900G>T
n.492G>T
c.98768C>A (p.Pro32923Gln)
c.72662C>A (p.Pro24221Gln)
c.72521C>A (p.Pro24174Gln)
c.98564C>A (p.Pro32855Gln)
c.93962C>A (p.Pro31321Gln)
c.93959C>A (p.Pro31320Gln)
c.91001C>A (p.Pro30334Gln)
c.72617C>A (p.Pro24206Gln)
c.94112C>A (p.Pro31371Gln)
c.94109C>A (p.Pro31370Gln)
c.93542C>A (p.Pro31181Gln)
c.90884C>A (p.Pro30295Gln)
c.90803C>A (p.Pro30268Gln)
c.72566C>A (p.Pro24189Gln)
c.62420C>A (p.Pro20807Gln)
2g.178537537G>ACA60961644TTN,TTN-AS1c.91966C>T (p.Pro30656Ser)
c.73051C>T (p.Pro24351Ser)
c.72850C>T (p.Pro24284Ser)
c.72475C>T (p.Pro24159Ser)
c.99670C>T (p.Pro33224Ser)
c.94747C>T (p.Pro31583Ser)
n.446+13901G>A
n.493G>A
c.98767C>T (p.Pro32923Ser)
c.72661C>T (p.Pro24221Ser)
c.72520C>T (p.Pro24174Ser)
c.98563C>T (p.Pro32855Ser)
c.93961C>T (p.Pro31321Ser)
c.93958C>T (p.Pro31320Ser)
c.91000C>T (p.Pro30334Ser)
c.72616C>T (p.Pro24206Ser)
c.94111C>T (p.Pro31371Ser)
c.94108C>T (p.Pro31370Ser)
c.93541C>T (p.Pro31181Ser)
c.90883C>T (p.Pro30295Ser)
c.90802C>T (p.Pro30268Ser)
c.72565C>T (p.Pro24189Ser)
c.62419C>T (p.Pro20807Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178537537G>CCA349427719TTN,TTN-AS1c.91966C>G (p.Pro30656Ala)
c.73051C>G (p.Pro24351Ala)
c.72850C>G (p.Pro24284Ala)
c.72475C>G (p.Pro24159Ala)
c.99670C>G (p.Pro33224Ala)
c.94747C>G (p.Pro31583Ala)
n.446+13901G>C
n.493G>C
c.98767C>G (p.Pro32923Ala)
c.72661C>G (p.Pro24221Ala)
c.72520C>G (p.Pro24174Ala)
c.98563C>G (p.Pro32855Ala)
c.93961C>G (p.Pro31321Ala)
c.93958C>G (p.Pro31320Ala)
c.91000C>G (p.Pro30334Ala)
c.72616C>G (p.Pro24206Ala)
c.94111C>G (p.Pro31371Ala)
c.94108C>G (p.Pro31370Ala)
c.93541C>G (p.Pro31181Ala)
c.90883C>G (p.Pro30295Ala)
c.90802C>G (p.Pro30268Ala)
c.72565C>G (p.Pro24189Ala)
c.62419C>G (p.Pro20807Ala)
2g.178537537G=CA1310515501TTN,TTN-AS1c.91966C= (p.Pro30656=)
c.73051C= (p.Pro24351=)
c.72850C= (p.Pro24284=)
c.72475C= (p.Pro24159=)
c.99670C= (p.Pro33224=)
c.94747C= (p.Pro31583=)
n.446+13901G=
n.493G=
c.98767C= (p.Pro32923=)
c.72661C= (p.Pro24221=)
c.72520C= (p.Pro24174=)
c.98563C= (p.Pro32855=)
c.93961C= (p.Pro31321=)
c.93958C= (p.Pro31320=)
c.91000C= (p.Pro30334=)
c.72616C= (p.Pro24206=)
c.94111C= (p.Pro31371=)
c.94108C= (p.Pro31370=)
c.93541C= (p.Pro31181=)
c.90883C= (p.Pro30295=)
c.90802C= (p.Pro30268=)
c.72565C= (p.Pro24189=)
c.62419C= (p.Pro20807=)
2g.178537537G>TCA349427720TTN,TTN-AS1c.91966C>A (p.Pro30656Thr)
c.73051C>A (p.Pro24351Thr)
c.72850C>A (p.Pro24284Thr)
c.72475C>A (p.Pro24159Thr)
c.99670C>A (p.Pro33224Thr)
c.94747C>A (p.Pro31583Thr)
n.446+13901G>T
n.493G>T
c.98767C>A (p.Pro32923Thr)
c.72661C>A (p.Pro24221Thr)
c.72520C>A (p.Pro24174Thr)
c.98563C>A (p.Pro32855Thr)
c.93961C>A (p.Pro31321Thr)
c.93958C>A (p.Pro31320Thr)
c.91000C>A (p.Pro30334Thr)
c.72616C>A (p.Pro24206Thr)
c.94111C>A (p.Pro31371Thr)
c.94108C>A (p.Pro31370Thr)
c.93541C>A (p.Pro31181Thr)
c.90883C>A (p.Pro30295Thr)
c.90802C>A (p.Pro30268Thr)
c.72565C>A (p.Pro24189Thr)
c.62419C>A (p.Pro20807Thr)
 COSMIC COSMIC COSMIC COSMIC
2g.178537538A=CA1310515502TTN,TTN-AS1c.91965T= (p.Arg30655=)
c.73050T= (p.Arg24350=)
c.72849T= (p.Arg24283=)
c.72474T= (p.Arg24158=)
c.99669T= (p.Arg33223=)
c.94746T= (p.Arg31582=)
n.446+13902A=
n.494A=
c.98766T= (p.Arg32922=)
c.72660T= (p.Arg24220=)
c.72519T= (p.Arg24173=)
c.98562T= (p.Arg32854=)
c.93960T= (p.Arg31320=)
c.93957T= (p.Arg31319=)
c.90999T= (p.Arg30333=)
c.72615T= (p.Arg24205=)
c.94110T= (p.Arg31370=)
c.94107T= (p.Arg31369=)
c.93540T= (p.Arg31180=)
c.90882T= (p.Arg30294=)
c.90801T= (p.Arg30267=)
c.72564T= (p.Arg24188=)
c.62418T= (p.Arg20806=)
2g.178537538A>CCA430239238TTN,TTN-AS1c.91965T>G (p.Arg30655=)
c.73050T>G (p.Arg24350=)
c.72849T>G (p.Arg24283=)
c.72474T>G (p.Arg24158=)
c.99669T>G (p.Arg33223=)
c.94746T>G (p.Arg31582=)
n.446+13902A>C
n.494A>C
c.98766T>G (p.Arg32922=)
c.72660T>G (p.Arg24220=)
c.72519T>G (p.Arg24173=)
c.98562T>G (p.Arg32854=)
c.93960T>G (p.Arg31320=)
c.93957T>G (p.Arg31319=)
c.90999T>G (p.Arg30333=)
c.72615T>G (p.Arg24205=)
c.94110T>G (p.Arg31370=)
c.94107T>G (p.Arg31369=)
c.93540T>G (p.Arg31180=)
c.90882T>G (p.Arg30294=)
c.90801T>G (p.Arg30267=)
c.72564T>G (p.Arg24188=)
c.62418T>G (p.Arg20806=)
2g.178537538A>GCA430239239TTN,TTN-AS1c.91965T>C (p.Arg30655=)
c.73050T>C (p.Arg24350=)
c.72849T>C (p.Arg24283=)
c.72474T>C (p.Arg24158=)
c.99669T>C (p.Arg33223=)
c.94746T>C (p.Arg31582=)
n.446+13902A>G
n.494A>G
c.98766T>C (p.Arg32922=)
c.72660T>C (p.Arg24220=)
c.72519T>C (p.Arg24173=)
c.98562T>C (p.Arg32854=)
c.93960T>C (p.Arg31320=)
c.93957T>C (p.Arg31319=)
c.90999T>C (p.Arg30333=)
c.72615T>C (p.Arg24205=)
c.94110T>C (p.Arg31370=)
c.94107T>C (p.Arg31369=)
c.93540T>C (p.Arg31180=)
c.90882T>C (p.Arg30294=)
c.90801T>C (p.Arg30267=)
c.72564T>C (p.Arg24188=)
c.62418T>C (p.Arg20806=)
 dbSNP
2g.178537538A>TCA430239241TTN,TTN-AS1c.91965T>A (p.Arg30655=)
c.73050T>A (p.Arg24350=)
c.72849T>A (p.Arg24283=)
c.72474T>A (p.Arg24158=)
c.99669T>A (p.Arg33223=)
c.94746T>A (p.Arg31582=)
n.446+13902A>T
n.494A>T
c.98766T>A (p.Arg32922=)
c.72660T>A (p.Arg24220=)
c.72519T>A (p.Arg24173=)
c.98562T>A (p.Arg32854=)
c.93960T>A (p.Arg31320=)
c.93957T>A (p.Arg31319=)
c.90999T>A (p.Arg30333=)
c.72615T>A (p.Arg24205=)
c.94110T>A (p.Arg31370=)
c.94107T>A (p.Arg31369=)
c.93540T>A (p.Arg31180=)
c.90882T>A (p.Arg30294=)
c.90801T>A (p.Arg30267=)
c.72564T>A (p.Arg24188=)
c.62418T>A (p.Arg20806=)
 gnomAD v4
2g.178537539C>ACA349427721TTN,TTN-AS1c.91964G>T (p.Arg30655Leu)
c.73049G>T (p.Arg24350Leu)
c.72848G>T (p.Arg24283Leu)
c.72473G>T (p.Arg24158Leu)
c.99668G>T (p.Arg33223Leu)
c.94745G>T (p.Arg31582Leu)
n.446+13903C>A
n.495C>A
c.98765G>T (p.Arg32922Leu)
c.72659G>T (p.Arg24220Leu)
c.72518G>T (p.Arg24173Leu)
c.98561G>T (p.Arg32854Leu)
c.93959G>T (p.Arg31320Leu)
c.93956G>T (p.Arg31319Leu)
c.90998G>T (p.Arg30333Leu)
c.72614G>T (p.Arg24205Leu)
c.94109G>T (p.Arg31370Leu)
c.94106G>T (p.Arg31369Leu)
c.93539G>T (p.Arg31180Leu)
c.90881G>T (p.Arg30294Leu)
c.90800G>T (p.Arg30267Leu)
c.72563G>T (p.Arg24188Leu)
c.62417G>T (p.Arg20806Leu)
2g.178537539C=CA1310515503TTN,TTN-AS1c.91964G= (p.Arg30655=)
c.73049G= (p.Arg24350=)
c.72848G= (p.Arg24283=)
c.72473G= (p.Arg24158=)
c.99668G= (p.Arg33223=)
c.94745G= (p.Arg31582=)
n.446+13903C=
n.495C=
c.98765G= (p.Arg32922=)
c.72659G= (p.Arg24220=)
c.72518G= (p.Arg24173=)
c.98561G= (p.Arg32854=)
c.93959G= (p.Arg31320=)
c.93956G= (p.Arg31319=)
c.90998G= (p.Arg30333=)
c.72614G= (p.Arg24205=)
c.94109G= (p.Arg31370=)
c.94106G= (p.Arg31369=)
c.93539G= (p.Arg31180=)
c.90881G= (p.Arg30294=)
c.90800G= (p.Arg30267=)
c.72563G= (p.Arg24188=)
c.62417G= (p.Arg20806=)
2g.178537539C>GCA349427722TTN,TTN-AS1c.91964G>C (p.Arg30655Pro)
c.73049G>C (p.Arg24350Pro)
c.72848G>C (p.Arg24283Pro)
c.72473G>C (p.Arg24158Pro)
c.99668G>C (p.Arg33223Pro)
c.94745G>C (p.Arg31582Pro)
n.446+13903C>G
n.495C>G
c.98765G>C (p.Arg32922Pro)
c.72659G>C (p.Arg24220Pro)
c.72518G>C (p.Arg24173Pro)
c.98561G>C (p.Arg32854Pro)
c.93959G>C (p.Arg31320Pro)
c.93956G>C (p.Arg31319Pro)
c.90998G>C (p.Arg30333Pro)
c.72614G>C (p.Arg24205Pro)
c.94109G>C (p.Arg31370Pro)
c.94106G>C (p.Arg31369Pro)
c.93539G>C (p.Arg31180Pro)
c.90881G>C (p.Arg30294Pro)
c.90800G>C (p.Arg30267Pro)
c.72563G>C (p.Arg24188Pro)
c.62417G>C (p.Arg20806Pro)
2g.178537539C>TCA141517TTN,TTN-AS1c.91964G>A (p.Arg30655His)
c.73049G>A (p.Arg24350His)
c.72848G>A (p.Arg24283His)
c.72473G>A (p.Arg24158His)
c.99668G>A (p.Arg33223His)
c.94745G>A (p.Arg31582His)
n.446+13903C>T
n.495C>T
c.98765G>A (p.Arg32922His)
c.72659G>A (p.Arg24220His)
c.72518G>A (p.Arg24173His)
c.98561G>A (p.Arg32854His)
c.93959G>A (p.Arg31320His)
c.93956G>A (p.Arg31319His)
c.90998G>A (p.Arg30333His)
c.72614G>A (p.Arg24205His)
c.94109G>A (p.Arg31370His)
c.94106G>A (p.Arg31369His)
c.93539G>A (p.Arg31180His)
c.90881G>A (p.Arg30294His)
c.90800G>A (p.Arg30267His)
c.72563G>A (p.Arg24188His)
c.62417G>A (p.Arg20806His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178537540G>ACA349427723TTN,TTN-AS1c.91963C>T (p.Arg30655Cys)
c.73048C>T (p.Arg24350Cys)
c.72847C>T (p.Arg24283Cys)
c.72472C>T (p.Arg24158Cys)
c.99667C>T (p.Arg33223Cys)
c.94744C>T (p.Arg31582Cys)
n.446+13904G>A
n.496G>A
c.98764C>T (p.Arg32922Cys)
c.72658C>T (p.Arg24220Cys)
c.72517C>T (p.Arg24173Cys)
c.98560C>T (p.Arg32854Cys)
c.93958C>T (p.Arg31320Cys)
c.93955C>T (p.Arg31319Cys)
c.90997C>T (p.Arg30333Cys)
c.72613C>T (p.Arg24205Cys)
c.94108C>T (p.Arg31370Cys)
c.94105C>T (p.Arg31369Cys)
c.93538C>T (p.Arg31180Cys)
c.90880C>T (p.Arg30294Cys)
c.90799C>T (p.Arg30267Cys)
c.72562C>T (p.Arg24188Cys)
c.62416C>T (p.Arg20806Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178537540G>CCA349427724TTN,TTN-AS1c.91963C>G (p.Arg30655Gly)
c.73048C>G (p.Arg24350Gly)
c.72847C>G (p.Arg24283Gly)
c.72472C>G (p.Arg24158Gly)
c.99667C>G (p.Arg33223Gly)
c.94744C>G (p.Arg31582Gly)
n.446+13904G>C
n.496G>C
c.98764C>G (p.Arg32922Gly)
c.72658C>G (p.Arg24220Gly)
c.72517C>G (p.Arg24173Gly)
c.98560C>G (p.Arg32854Gly)
c.93958C>G (p.Arg31320Gly)
c.93955C>G (p.Arg31319Gly)
c.90997C>G (p.Arg30333Gly)
c.72613C>G (p.Arg24205Gly)
c.94108C>G (p.Arg31370Gly)
c.94105C>G (p.Arg31369Gly)
c.93538C>G (p.Arg31180Gly)
c.90880C>G (p.Arg30294Gly)
c.90799C>G (p.Arg30267Gly)
c.72562C>G (p.Arg24188Gly)
c.62416C>G (p.Arg20806Gly)
2g.178537540G=CA1310515505TTN,TTN-AS1c.91963C= (p.Arg30655=)
c.73048C= (p.Arg24350=)
c.72847C= (p.Arg24283=)
c.72472C= (p.Arg24158=)
c.99667C= (p.Arg33223=)
c.94744C= (p.Arg31582=)
n.446+13904G=
n.496G=
c.98764C= (p.Arg32922=)
c.72658C= (p.Arg24220=)
c.72517C= (p.Arg24173=)
c.98560C= (p.Arg32854=)
c.93958C= (p.Arg31320=)
c.93955C= (p.Arg31319=)
c.90997C= (p.Arg30333=)
c.72613C= (p.Arg24205=)
c.94108C= (p.Arg31370=)
c.94105C= (p.Arg31369=)
c.93538C= (p.Arg31180=)
c.90880C= (p.Arg30294=)
c.90799C= (p.Arg30267=)
c.72562C= (p.Arg24188=)
c.62416C= (p.Arg20806=)
2g.178537540G>TCA349427725TTN,TTN-AS1c.91963C>A (p.Arg30655Ser)
c.73048C>A (p.Arg24350Ser)
c.72847C>A (p.Arg24283Ser)
c.72472C>A (p.Arg24158Ser)
c.99667C>A (p.Arg33223Ser)
c.94744C>A (p.Arg31582Ser)
n.446+13904G>T
n.496G>T
c.98764C>A (p.Arg32922Ser)
c.72658C>A (p.Arg24220Ser)
c.72517C>A (p.Arg24173Ser)
c.98560C>A (p.Arg32854Ser)
c.93958C>A (p.Arg31320Ser)
c.93955C>A (p.Arg31319Ser)
c.90997C>A (p.Arg30333Ser)
c.72613C>A (p.Arg24205Ser)
c.94108C>A (p.Arg31370Ser)
c.94105C>A (p.Arg31369Ser)
c.93538C>A (p.Arg31180Ser)
c.90880C>A (p.Arg30294Ser)
c.90799C>A (p.Arg30267Ser)
c.72562C>A (p.Arg24188Ser)
c.62416C>A (p.Arg20806Ser)
2g.178537541A>CCA430239248TTN,TTN-AS1c.91962T>G (p.Gly30654=)
c.73047T>G (p.Gly24349=)
c.72846T>G (p.Gly24282=)
c.72471T>G (p.Gly24157=)
c.99666T>G (p.Gly33222=)
c.94743T>G (p.Gly31581=)
n.446+13905A>C
n.497A>C
c.98763T>G (p.Gly32921=)
c.72657T>G (p.Gly24219=)
c.72516T>G (p.Gly24172=)
c.98559T>G (p.Gly32853=)
c.93957T>G (p.Gly31319=)
c.93954T>G (p.Gly31318=)
c.90996T>G (p.Gly30332=)
c.72612T>G (p.Gly24204=)
c.94107T>G (p.Gly31369=)
c.94104T>G (p.Gly31368=)
c.93537T>G (p.Gly31179=)
c.90879T>G (p.Gly30293=)
c.90798T>G (p.Gly30266=)
c.72561T>G (p.Gly24187=)
c.62415T>G (p.Gly20805=)
2g.178537541A>GCA430239247TTN,TTN-AS1c.91962T>C (p.Gly30654=)
c.73047T>C (p.Gly24349=)
c.72846T>C (p.Gly24282=)
c.72471T>C (p.Gly24157=)
c.99666T>C (p.Gly33222=)
c.94743T>C (p.Gly31581=)
n.446+13905A>G
n.497A>G
c.98763T>C (p.Gly32921=)
c.72657T>C (p.Gly24219=)
c.72516T>C (p.Gly24172=)
c.98559T>C (p.Gly32853=)
c.93957T>C (p.Gly31319=)
c.93954T>C (p.Gly31318=)
c.90996T>C (p.Gly30332=)
c.72612T>C (p.Gly24204=)
c.94107T>C (p.Gly31369=)
c.94104T>C (p.Gly31368=)
c.93537T>C (p.Gly31179=)
c.90879T>C (p.Gly30293=)
c.90798T>C (p.Gly30266=)
c.72561T>C (p.Gly24187=)
c.62415T>C (p.Gly20805=)
2g.178537541A>TCA430239246TTN,TTN-AS1c.91962T>A (p.Gly30654=)
c.73047T>A (p.Gly24349=)
c.72846T>A (p.Gly24282=)
c.72471T>A (p.Gly24157=)
c.99666T>A (p.Gly33222=)
c.94743T>A (p.Gly31581=)
n.446+13905A>T
n.497A>T
c.98763T>A (p.Gly32921=)
c.72657T>A (p.Gly24219=)
c.72516T>A (p.Gly24172=)
c.98559T>A (p.Gly32853=)
c.93957T>A (p.Gly31319=)
c.93954T>A (p.Gly31318=)
c.90996T>A (p.Gly30332=)
c.72612T>A (p.Gly24204=)
c.94107T>A (p.Gly31369=)
c.94104T>A (p.Gly31368=)
c.93537T>A (p.Gly31179=)
c.90879T>A (p.Gly30293=)
c.90798T>A (p.Gly30266=)
c.72561T>A (p.Gly24187=)
c.62415T>A (p.Gly20805=)
2g.178537542C>ACA349427726TTN,TTN-AS1c.91961G>T (p.Gly30654Val)
c.73046G>T (p.Gly24349Val)
c.72845G>T (p.Gly24282Val)
c.72470G>T (p.Gly24157Val)
c.99665G>T (p.Gly33222Val)
c.94742G>T (p.Gly31581Val)
n.446+13906C>A
n.498C>A
c.98762G>T (p.Gly32921Val)
c.72656G>T (p.Gly24219Val)
c.72515G>T (p.Gly24172Val)
c.98558G>T (p.Gly32853Val)
c.93956G>T (p.Gly31319Val)
c.93953G>T (p.Gly31318Val)
c.90995G>T (p.Gly30332Val)
c.72611G>T (p.Gly24204Val)
c.94106G>T (p.Gly31369Val)
c.94103G>T (p.Gly31368Val)
c.93536G>T (p.Gly31179Val)
c.90878G>T (p.Gly30293Val)
c.90797G>T (p.Gly30266Val)
c.72560G>T (p.Gly24187Val)
c.62414G>T (p.Gly20805Val)
 gnomAD v4
2g.178537542C>GCA349427727TTN,TTN-AS1c.91961G>C (p.Gly30654Ala)
c.73046G>C (p.Gly24349Ala)
c.72845G>C (p.Gly24282Ala)
c.72470G>C (p.Gly24157Ala)
c.99665G>C (p.Gly33222Ala)
c.94742G>C (p.Gly31581Ala)
n.446+13906C>G
n.498C>G
c.98762G>C (p.Gly32921Ala)
c.72656G>C (p.Gly24219Ala)
c.72515G>C (p.Gly24172Ala)
c.98558G>C (p.Gly32853Ala)
c.93956G>C (p.Gly31319Ala)
c.93953G>C (p.Gly31318Ala)
c.90995G>C (p.Gly30332Ala)
c.72611G>C (p.Gly24204Ala)
c.94106G>C (p.Gly31369Ala)
c.94103G>C (p.Gly31368Ala)
c.93536G>C (p.Gly31179Ala)
c.90878G>C (p.Gly30293Ala)
c.90797G>C (p.Gly30266Ala)
c.72560G>C (p.Gly24187Ala)
c.62414G>C (p.Gly20805Ala)
2g.178537542C>TCA349427728TTN,TTN-AS1c.91961G>A (p.Gly30654Asp)
c.73046G>A (p.Gly24349Asp)
c.72845G>A (p.Gly24282Asp)
c.72470G>A (p.Gly24157Asp)
c.99665G>A (p.Gly33222Asp)
c.94742G>A (p.Gly31581Asp)
n.446+13906C>T
n.498C>T
c.98762G>A (p.Gly32921Asp)
c.72656G>A (p.Gly24219Asp)
c.72515G>A (p.Gly24172Asp)
c.98558G>A (p.Gly32853Asp)
c.93956G>A (p.Gly31319Asp)
c.93953G>A (p.Gly31318Asp)
c.90995G>A (p.Gly30332Asp)
c.72611G>A (p.Gly24204Asp)
c.94106G>A (p.Gly31369Asp)
c.94103G>A (p.Gly31368Asp)
c.93536G>A (p.Gly31179Asp)
c.90878G>A (p.Gly30293Asp)
c.90797G>A (p.Gly30266Asp)
c.72560G>A (p.Gly24187Asp)
c.62414G>A (p.Gly20805Asp)
2g.178537543C>ACA349427729TTN,TTN-AS1c.91960G>T (p.Gly30654Cys)
c.73045G>T (p.Gly24349Cys)
c.72844G>T (p.Gly24282Cys)
c.72469G>T (p.Gly24157Cys)
c.99664G>T (p.Gly33222Cys)
c.94741G>T (p.Gly31581Cys)
n.446+13907C>A
n.499C>A
c.98761G>T (p.Gly32921Cys)
c.72655G>T (p.Gly24219Cys)
c.72514G>T (p.Gly24172Cys)
c.98557G>T (p.Gly32853Cys)
c.93955G>T (p.Gly31319Cys)
c.93952G>T (p.Gly31318Cys)
c.90994G>T (p.Gly30332Cys)
c.72610G>T (p.Gly24204Cys)
c.94105G>T (p.Gly31369Cys)
c.94102G>T (p.Gly31368Cys)
c.93535G>T (p.Gly31179Cys)
c.90877G>T (p.Gly30293Cys)
c.90796G>T (p.Gly30266Cys)
c.72559G>T (p.Gly24187Cys)
c.62413G>T (p.Gly20805Cys)
2g.178537543C=CA1310515507TTN,TTN-AS1c.91960G= (p.Gly30654=)
c.73045G= (p.Gly24349=)
c.72844G= (p.Gly24282=)
c.72469G= (p.Gly24157=)
c.99664G= (p.Gly33222=)
c.94741G= (p.Gly31581=)
n.446+13907C=
n.499C=
c.98761G= (p.Gly32921=)
c.72655G= (p.Gly24219=)
c.72514G= (p.Gly24172=)
c.98557G= (p.Gly32853=)
c.93955G= (p.Gly31319=)
c.93952G= (p.Gly31318=)
c.90994G= (p.Gly30332=)
c.72610G= (p.Gly24204=)
c.94105G= (p.Gly31369=)
c.94102G= (p.Gly31368=)
c.93535G= (p.Gly31179=)
c.90877G= (p.Gly30293=)
c.90796G= (p.Gly30266=)
c.72559G= (p.Gly24187=)
c.62413G= (p.Gly20805=)
2g.178537543C>GCA349427730TTN,TTN-AS1c.91960G>C (p.Gly30654Arg)
c.73045G>C (p.Gly24349Arg)
c.72844G>C (p.Gly24282Arg)
c.72469G>C (p.Gly24157Arg)
c.99664G>C (p.Gly33222Arg)
c.94741G>C (p.Gly31581Arg)
n.446+13907C>G
n.499C>G
c.98761G>C (p.Gly32921Arg)
c.72655G>C (p.Gly24219Arg)
c.72514G>C (p.Gly24172Arg)
c.98557G>C (p.Gly32853Arg)
c.93955G>C (p.Gly31319Arg)
c.93952G>C (p.Gly31318Arg)
c.90994G>C (p.Gly30332Arg)
c.72610G>C (p.Gly24204Arg)
c.94105G>C (p.Gly31369Arg)
c.94102G>C (p.Gly31368Arg)
c.93535G>C (p.Gly31179Arg)
c.90877G>C (p.Gly30293Arg)
c.90796G>C (p.Gly30266Arg)
c.72559G>C (p.Gly24187Arg)
c.62413G>C (p.Gly20805Arg)
2g.178537543C>TCA60961648TTN,TTN-AS1c.91960G>A (p.Gly30654Ser)
c.73045G>A (p.Gly24349Ser)
c.72844G>A (p.Gly24282Ser)
c.72469G>A (p.Gly24157Ser)
c.99664G>A (p.Gly33222Ser)
c.94741G>A (p.Gly31581Ser)
n.446+13907C>T
n.499C>T
c.98761G>A (p.Gly32921Ser)
c.72655G>A (p.Gly24219Ser)
c.72514G>A (p.Gly24172Ser)
c.98557G>A (p.Gly32853Ser)
c.93955G>A (p.Gly31319Ser)
c.93952G>A (p.Gly31318Ser)
c.90994G>A (p.Gly30332Ser)
c.72610G>A (p.Gly24204Ser)
c.94105G>A (p.Gly31369Ser)
c.94102G>A (p.Gly31368Ser)
c.93535G>A (p.Gly31179Ser)
c.90877G>A (p.Gly30293Ser)
c.90796G>A (p.Gly30266Ser)
c.72559G>A (p.Gly24187Ser)
c.62413G>A (p.Gly20805Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178537544A>CCA349427731TTN,TTN-AS1c.91959T>G (p.Ile30653Met)
c.73044T>G (p.Ile24348Met)
c.72843T>G (p.Ile24281Met)
c.72468T>G (p.Ile24156Met)
c.99663T>G (p.Ile33221Met)
c.94740T>G (p.Ile31580Met)
n.446+13908A>C
n.500A>C
c.98760T>G (p.Ile32920Met)
c.72654T>G (p.Ile24218Met)
c.72513T>G (p.Ile24171Met)
c.98556T>G (p.Ile32852Met)
c.93954T>G (p.Ile31318Met)
c.93951T>G (p.Ile31317Met)
c.90993T>G (p.Ile30331Met)
c.72609T>G (p.Ile24203Met)
c.94104T>G (p.Ile31368Met)
c.94101T>G (p.Ile31367Met)
c.93534T>G (p.Ile31178Met)
c.90876T>G (p.Ile30292Met)
c.90795T>G (p.Ile30265Met)
c.72558T>G (p.Ile24186Met)
c.62412T>G (p.Ile20804Met)
2g.178537544A>GCA430239250TTN,TTN-AS1c.91959T>C (p.Ile30653=)
c.73044T>C (p.Ile24348=)
c.72843T>C (p.Ile24281=)
c.72468T>C (p.Ile24156=)
c.99663T>C (p.Ile33221=)
c.94740T>C (p.Ile31580=)
n.446+13908A>G
n.500A>G
c.98760T>C (p.Ile32920=)
c.72654T>C (p.Ile24218=)
c.72513T>C (p.Ile24171=)
c.98556T>C (p.Ile32852=)
c.93954T>C (p.Ile31318=)
c.93951T>C (p.Ile31317=)
c.90993T>C (p.Ile30331=)
c.72609T>C (p.Ile24203=)
c.94104T>C (p.Ile31368=)
c.94101T>C (p.Ile31367=)
c.93534T>C (p.Ile31178=)
c.90876T>C (p.Ile30292=)
c.90795T>C (p.Ile30265=)
c.72558T>C (p.Ile24186=)
c.62412T>C (p.Ile20804=)
 ClinVar gnomAD v4
2g.178537544A>TCA430239252TTN,TTN-AS1c.91959T>A (p.Ile30653=)
c.73044T>A (p.Ile24348=)
c.72843T>A (p.Ile24281=)
c.72468T>A (p.Ile24156=)
c.99663T>A (p.Ile33221=)
c.94740T>A (p.Ile31580=)
n.446+13908A>T
n.500A>T
c.98760T>A (p.Ile32920=)
c.72654T>A (p.Ile24218=)
c.72513T>A (p.Ile24171=)
c.98556T>A (p.Ile32852=)
c.93954T>A (p.Ile31318=)
c.93951T>A (p.Ile31317=)
c.90993T>A (p.Ile30331=)
c.72609T>A (p.Ile24203=)
c.94104T>A (p.Ile31368=)
c.94101T>A (p.Ile31367=)
c.93534T>A (p.Ile31178=)
c.90876T>A (p.Ile30292=)
c.90795T>A (p.Ile30265=)
c.72558T>A (p.Ile24186=)
c.62412T>A (p.Ile20804=)
2g.178537545A=CA1310515509TTN,TTN-AS1c.91958T= (p.Ile30653=)
c.73043T= (p.Ile24348=)
c.72842T= (p.Ile24281=)
c.72467T= (p.Ile24156=)
c.99662T= (p.Ile33221=)
c.94739T= (p.Ile31580=)
n.446+13909A=
n.501A=
c.98759T= (p.Ile32920=)
c.72653T= (p.Ile24218=)
c.72512T= (p.Ile24171=)
c.98555T= (p.Ile32852=)
c.93953T= (p.Ile31318=)
c.93950T= (p.Ile31317=)
c.90992T= (p.Ile30331=)
c.72608T= (p.Ile24203=)
c.94103T= (p.Ile31368=)
c.94100T= (p.Ile31367=)
c.93533T= (p.Ile31178=)
c.90875T= (p.Ile30292=)
c.90794T= (p.Ile30265=)
c.72557T= (p.Ile24186=)
c.62411T= (p.Ile20804=)
2g.178537545A>CCA349427732TTN,TTN-AS1c.91958T>G (p.Ile30653Ser)
c.73043T>G (p.Ile24348Ser)
c.72842T>G (p.Ile24281Ser)
c.72467T>G (p.Ile24156Ser)
c.99662T>G (p.Ile33221Ser)
c.94739T>G (p.Ile31580Ser)
n.446+13909A>C
n.501A>C
c.98759T>G (p.Ile32920Ser)
c.72653T>G (p.Ile24218Ser)
c.72512T>G (p.Ile24171Ser)
c.98555T>G (p.Ile32852Ser)
c.93953T>G (p.Ile31318Ser)
c.93950T>G (p.Ile31317Ser)
c.90992T>G (p.Ile30331Ser)
c.72608T>G (p.Ile24203Ser)
c.94103T>G (p.Ile31368Ser)
c.94100T>G (p.Ile31367Ser)
c.93533T>G (p.Ile31178Ser)
c.90875T>G (p.Ile30292Ser)
c.90794T>G (p.Ile30265Ser)
c.72557T>G (p.Ile24186Ser)
c.62411T>G (p.Ile20804Ser)
2g.178537545A>GCA349427733TTN,TTN-AS1c.91958T>C (p.Ile30653Thr)
c.73043T>C (p.Ile24348Thr)
c.72842T>C (p.Ile24281Thr)
c.72467T>C (p.Ile24156Thr)
c.99662T>C (p.Ile33221Thr)
c.94739T>C (p.Ile31580Thr)
n.446+13909A>G
n.501A>G
c.98759T>C (p.Ile32920Thr)
c.72653T>C (p.Ile24218Thr)
c.72512T>C (p.Ile24171Thr)
c.98555T>C (p.Ile32852Thr)
c.93953T>C (p.Ile31318Thr)
c.93950T>C (p.Ile31317Thr)
c.90992T>C (p.Ile30331Thr)
c.72608T>C (p.Ile24203Thr)
c.94103T>C (p.Ile31368Thr)
c.94100T>C (p.Ile31367Thr)
c.93533T>C (p.Ile31178Thr)
c.90875T>C (p.Ile30292Thr)
c.90794T>C (p.Ile30265Thr)
c.72557T>C (p.Ile24186Thr)
c.62411T>C (p.Ile20804Thr)
 ClinVar dbSNP gnomAD v4
2g.178537545A>TCA349427734TTN,TTN-AS1c.91958T>A (p.Ile30653Asn)
c.73043T>A (p.Ile24348Asn)
c.72842T>A (p.Ile24281Asn)
c.72467T>A (p.Ile24156Asn)
c.99662T>A (p.Ile33221Asn)
c.94739T>A (p.Ile31580Asn)
n.446+13909A>T
n.501A>T
c.98759T>A (p.Ile32920Asn)
c.72653T>A (p.Ile24218Asn)
c.72512T>A (p.Ile24171Asn)
c.98555T>A (p.Ile32852Asn)
c.93953T>A (p.Ile31318Asn)
c.93950T>A (p.Ile31317Asn)
c.90992T>A (p.Ile30331Asn)
c.72608T>A (p.Ile24203Asn)
c.94103T>A (p.Ile31368Asn)
c.94100T>A (p.Ile31367Asn)
c.93533T>A (p.Ile31178Asn)
c.90875T>A (p.Ile30292Asn)
c.90794T>A (p.Ile30265Asn)
c.72557T>A (p.Ile24186Asn)
c.62411T>A (p.Ile20804Asn)
2g.178537546T>ACA349427735TTN,TTN-AS1c.91957A>T (p.Ile30653Phe)
c.73042A>T (p.Ile24348Phe)
c.72841A>T (p.Ile24281Phe)
c.72466A>T (p.Ile24156Phe)
c.99661A>T (p.Ile33221Phe)
c.94738A>T (p.Ile31580Phe)
n.446+13910T>A
n.502T>A
c.98758A>T (p.Ile32920Phe)
c.72652A>T (p.Ile24218Phe)
c.72511A>T (p.Ile24171Phe)
c.98554A>T (p.Ile32852Phe)
c.93952A>T (p.Ile31318Phe)
c.93949A>T (p.Ile31317Phe)
c.90991A>T (p.Ile30331Phe)
c.72607A>T (p.Ile24203Phe)
c.94102A>T (p.Ile31368Phe)
c.94099A>T (p.Ile31367Phe)
c.93532A>T (p.Ile31178Phe)
c.90874A>T (p.Ile30292Phe)
c.90793A>T (p.Ile30265Phe)
c.72556A>T (p.Ile24186Phe)
c.62410A>T (p.Ile20804Phe)
2g.178537546T>CCA60961649TTN,TTN-AS1c.91957A>G (p.Ile30653Val)
c.73042A>G (p.Ile24348Val)
c.72841A>G (p.Ile24281Val)
c.72466A>G (p.Ile24156Val)
c.99661A>G (p.Ile33221Val)
c.94738A>G (p.Ile31580Val)
n.446+13910T>C
n.502T>C
c.98758A>G (p.Ile32920Val)
c.72652A>G (p.Ile24218Val)
c.72511A>G (p.Ile24171Val)
c.98554A>G (p.Ile32852Val)
c.93952A>G (p.Ile31318Val)
c.93949A>G (p.Ile31317Val)
c.90991A>G (p.Ile30331Val)
c.72607A>G (p.Ile24203Val)
c.94102A>G (p.Ile31368Val)
c.94099A>G (p.Ile31367Val)
c.93532A>G (p.Ile31178Val)
c.90874A>G (p.Ile30292Val)
c.90793A>G (p.Ile30265Val)
c.72556A>G (p.Ile24186Val)
c.62410A>G (p.Ile20804Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178537546T>GCA349427736TTN,TTN-AS1c.91957A>C (p.Ile30653Leu)
c.73042A>C (p.Ile24348Leu)
c.72841A>C (p.Ile24281Leu)
c.72466A>C (p.Ile24156Leu)
c.99661A>C (p.Ile33221Leu)
c.94738A>C (p.Ile31580Leu)
n.446+13910T>G
n.502T>G
c.98758A>C (p.Ile32920Leu)
c.72652A>C (p.Ile24218Leu)
c.72511A>C (p.Ile24171Leu)
c.98554A>C (p.Ile32852Leu)
c.93952A>C (p.Ile31318Leu)
c.93949A>C (p.Ile31317Leu)
c.90991A>C (p.Ile30331Leu)
c.72607A>C (p.Ile24203Leu)
c.94102A>C (p.Ile31368Leu)
c.94099A>C (p.Ile31367Leu)
c.93532A>C (p.Ile31178Leu)
c.90874A>C (p.Ile30292Leu)
c.90793A>C (p.Ile30265Leu)
c.72556A>C (p.Ile24186Leu)
c.62410A>C (p.Ile20804Leu)
 dbSNP gnomAD v4
2g.178537546T=CA1310515510TTN,TTN-AS1c.91957A= (p.Ile30653=)
c.73042A= (p.Ile24348=)
c.72841A= (p.Ile24281=)
c.72466A= (p.Ile24156=)
c.99661A= (p.Ile33221=)
c.94738A= (p.Ile31580=)
n.446+13910T=
n.502T=
c.98758A= (p.Ile32920=)
c.72652A= (p.Ile24218=)
c.72511A= (p.Ile24171=)
c.98554A= (p.Ile32852=)
c.93952A= (p.Ile31318=)
c.93949A= (p.Ile31317=)
c.90991A= (p.Ile30331=)
c.72607A= (p.Ile24203=)
c.94102A= (p.Ile31368=)
c.94099A= (p.Ile31367=)
c.93532A= (p.Ile31178=)
c.90874A= (p.Ile30292=)
c.90793A= (p.Ile30265=)
c.72556A= (p.Ile24186=)
c.62410A= (p.Ile20804=)
2g.178537547G>ACA1986158TTN,TTN-AS1c.91956C>T (p.Tyr30652=)
c.73041C>T (p.Tyr24347=)
c.72840C>T (p.Tyr24280=)
c.72465C>T (p.Tyr24155=)
c.99660C>T (p.Tyr33220=)
c.94737C>T (p.Tyr31579=)
n.446+13911G>A
n.503G>A
c.98757C>T (p.Tyr32919=)
c.72651C>T (p.Tyr24217=)
c.72510C>T (p.Tyr24170=)
c.98553C>T (p.Tyr32851=)
c.93951C>T (p.Tyr31317=)
c.93948C>T (p.Tyr31316=)
c.90990C>T (p.Tyr30330=)
c.72606C>T (p.Tyr24202=)
c.94101C>T (p.Tyr31367=)
c.94098C>T (p.Tyr31366=)
c.93531C>T (p.Tyr31177=)
c.90873C>T (p.Tyr30291=)
c.90792C>T (p.Tyr30264=)
c.72555C>T (p.Tyr24185=)
c.62409C>T (p.Tyr20803=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178537547G>CCA349427737TTN,TTN-AS1c.91956C>G (p.Tyr30652Ter)
c.73041C>G (p.Tyr24347Ter)
c.72840C>G (p.Tyr24280Ter)
c.72465C>G (p.Tyr24155Ter)
c.99660C>G (p.Tyr33220Ter)
c.94737C>G (p.Tyr31579Ter)
n.446+13911G>C
n.503G>C
c.98757C>G (p.Tyr32919Ter)
c.72651C>G (p.Tyr24217Ter)
c.72510C>G (p.Tyr24170Ter)
c.98553C>G (p.Tyr32851Ter)
c.93951C>G (p.Tyr31317Ter)
c.93948C>G (p.Tyr31316Ter)
c.90990C>G (p.Tyr30330Ter)
c.72606C>G (p.Tyr24202Ter)
c.94101C>G (p.Tyr31367Ter)
c.94098C>G (p.Tyr31366Ter)
c.93531C>G (p.Tyr31177Ter)
c.90873C>G (p.Tyr30291Ter)
c.90792C>G (p.Tyr30264Ter)
c.72555C>G (p.Tyr24185Ter)
c.62409C>G (p.Tyr20803Ter)
2g.178537547G=CA1310515511TTN,TTN-AS1c.91956C= (p.Tyr30652=)
c.73041C= (p.Tyr24347=)
c.72840C= (p.Tyr24280=)
c.72465C= (p.Tyr24155=)
c.99660C= (p.Tyr33220=)
c.94737C= (p.Tyr31579=)
n.446+13911G=
n.503G=
c.98757C= (p.Tyr32919=)
c.72651C= (p.Tyr24217=)
c.72510C= (p.Tyr24170=)
c.98553C= (p.Tyr32851=)
c.93951C= (p.Tyr31317=)
c.93948C= (p.Tyr31316=)
c.90990C= (p.Tyr30330=)
c.72606C= (p.Tyr24202=)
c.94101C= (p.Tyr31367=)
c.94098C= (p.Tyr31366=)
c.93531C= (p.Tyr31177=)
c.90873C= (p.Tyr30291=)
c.90792C= (p.Tyr30264=)
c.72555C= (p.Tyr24185=)
c.62409C= (p.Tyr20803=)
2g.178537547G>TCA349427738TTN,TTN-AS1c.91956C>A (p.Tyr30652Ter)
c.73041C>A (p.Tyr24347Ter)
c.72840C>A (p.Tyr24280Ter)
c.72465C>A (p.Tyr24155Ter)
c.99660C>A (p.Tyr33220Ter)
c.94737C>A (p.Tyr31579Ter)
n.446+13911G>T
n.503G>T
c.98757C>A (p.Tyr32919Ter)
c.72651C>A (p.Tyr24217Ter)
c.72510C>A (p.Tyr24170Ter)
c.98553C>A (p.Tyr32851Ter)
c.93951C>A (p.Tyr31317Ter)
c.93948C>A (p.Tyr31316Ter)
c.90990C>A (p.Tyr30330Ter)
c.72606C>A (p.Tyr24202Ter)
c.94101C>A (p.Tyr31367Ter)
c.94098C>A (p.Tyr31366Ter)
c.93531C>A (p.Tyr31177Ter)
c.90873C>A (p.Tyr30291Ter)
c.90792C>A (p.Tyr30264Ter)
c.72555C>A (p.Tyr24185Ter)
c.62409C>A (p.Tyr20803Ter)
2g.178537548T>ACA349427739TTN,TTN-AS1c.91955A>T (p.Tyr30652Phe)
c.73040A>T (p.Tyr24347Phe)
c.72839A>T (p.Tyr24280Phe)
c.72464A>T (p.Tyr24155Phe)
c.99659A>T (p.Tyr33220Phe)
c.94736A>T (p.Tyr31579Phe)
n.446+13912T>A
n.504T>A
c.98756A>T (p.Tyr32919Phe)
c.72650A>T (p.Tyr24217Phe)
c.72509A>T (p.Tyr24170Phe)
c.98552A>T (p.Tyr32851Phe)
c.93950A>T (p.Tyr31317Phe)
c.93947A>T (p.Tyr31316Phe)
c.90989A>T (p.Tyr30330Phe)
c.72605A>T (p.Tyr24202Phe)
c.94100A>T (p.Tyr31367Phe)
c.94097A>T (p.Tyr31366Phe)
c.93530A>T (p.Tyr31177Phe)
c.90872A>T (p.Tyr30291Phe)
c.90791A>T (p.Tyr30264Phe)
c.72554A>T (p.Tyr24185Phe)
c.62408A>T (p.Tyr20803Phe)
2g.178537548T>CCA349427740TTN,TTN-AS1c.91955A>G (p.Tyr30652Cys)
c.73040A>G (p.Tyr24347Cys)
c.72839A>G (p.Tyr24280Cys)
c.72464A>G (p.Tyr24155Cys)
c.99659A>G (p.Tyr33220Cys)
c.94736A>G (p.Tyr31579Cys)
n.446+13912T>C
n.504T>C
c.98756A>G (p.Tyr32919Cys)
c.72650A>G (p.Tyr24217Cys)
c.72509A>G (p.Tyr24170Cys)
c.98552A>G (p.Tyr32851Cys)
c.93950A>G (p.Tyr31317Cys)
c.93947A>G (p.Tyr31316Cys)
c.90989A>G (p.Tyr30330Cys)
c.72605A>G (p.Tyr24202Cys)
c.94100A>G (p.Tyr31367Cys)
c.94097A>G (p.Tyr31366Cys)
c.93530A>G (p.Tyr31177Cys)
c.90872A>G (p.Tyr30291Cys)
c.90791A>G (p.Tyr30264Cys)
c.72554A>G (p.Tyr24185Cys)
c.62408A>G (p.Tyr20803Cys)
 gnomAD v4
2g.178537548T>GCA349427741TTN,TTN-AS1c.91955A>C (p.Tyr30652Ser)
c.73040A>C (p.Tyr24347Ser)
c.72839A>C (p.Tyr24280Ser)
c.72464A>C (p.Tyr24155Ser)
c.99659A>C (p.Tyr33220Ser)
c.94736A>C (p.Tyr31579Ser)
n.446+13912T>G
n.504T>G
c.98756A>C (p.Tyr32919Ser)
c.72650A>C (p.Tyr24217Ser)
c.72509A>C (p.Tyr24170Ser)
c.98552A>C (p.Tyr32851Ser)
c.93950A>C (p.Tyr31317Ser)
c.93947A>C (p.Tyr31316Ser)
c.90989A>C (p.Tyr30330Ser)
c.72605A>C (p.Tyr24202Ser)
c.94100A>C (p.Tyr31367Ser)
c.94097A>C (p.Tyr31366Ser)
c.93530A>C (p.Tyr31177Ser)
c.90872A>C (p.Tyr30291Ser)
c.90791A>C (p.Tyr30264Ser)
c.72554A>C (p.Tyr24185Ser)
c.62408A>C (p.Tyr20803Ser)
2g.178537549A=CA1310515513TTN,TTN-AS1c.91954T= (p.Tyr30652=)
c.73039T= (p.Tyr24347=)
c.72838T= (p.Tyr24280=)
c.72463T= (p.Tyr24155=)
c.99658T= (p.Tyr33220=)
c.94735T= (p.Tyr31579=)
n.446+13913A=
n.505A=
c.98755T= (p.Tyr32919=)
c.72649T= (p.Tyr24217=)
c.72508T= (p.Tyr24170=)
c.98551T= (p.Tyr32851=)
c.93949T= (p.Tyr31317=)
c.93946T= (p.Tyr31316=)
c.90988T= (p.Tyr30330=)
c.72604T= (p.Tyr24202=)
c.94099T= (p.Tyr31367=)
c.94096T= (p.Tyr31366=)
c.93529T= (p.Tyr31177=)
c.90871T= (p.Tyr30291=)
c.90790T= (p.Tyr30264=)
c.72553T= (p.Tyr24185=)
c.62407T= (p.Tyr20803=)
2g.178537549A>CCA349427743TTN,TTN-AS1c.91954T>G (p.Tyr30652Asp)
c.73039T>G (p.Tyr24347Asp)
c.72838T>G (p.Tyr24280Asp)
c.72463T>G (p.Tyr24155Asp)
c.99658T>G (p.Tyr33220Asp)
c.94735T>G (p.Tyr31579Asp)
n.446+13913A>C
n.505A>C
c.98755T>G (p.Tyr32919Asp)
c.72649T>G (p.Tyr24217Asp)
c.72508T>G (p.Tyr24170Asp)
c.98551T>G (p.Tyr32851Asp)
c.93949T>G (p.Tyr31317Asp)
c.93946T>G (p.Tyr31316Asp)
c.90988T>G (p.Tyr30330Asp)
c.72604T>G (p.Tyr24202Asp)
c.94099T>G (p.Tyr31367Asp)
c.94096T>G (p.Tyr31366Asp)
c.93529T>G (p.Tyr31177Asp)
c.90871T>G (p.Tyr30291Asp)
c.90790T>G (p.Tyr30264Asp)
c.72553T>G (p.Tyr24185Asp)
c.62407T>G (p.Tyr20803Asp)
2g.178537549A>GCA1986159TTN,TTN-AS1c.91954T>C (p.Tyr30652His)
c.73039T>C (p.Tyr24347His)
c.72838T>C (p.Tyr24280His)
c.72463T>C (p.Tyr24155His)
c.99658T>C (p.Tyr33220His)
c.94735T>C (p.Tyr31579His)
n.446+13913A>G
n.505A>G
c.98755T>C (p.Tyr32919His)
c.72649T>C (p.Tyr24217His)
c.72508T>C (p.Tyr24170His)
c.98551T>C (p.Tyr32851His)
c.93949T>C (p.Tyr31317His)
c.93946T>C (p.Tyr31316His)
c.90988T>C (p.Tyr30330His)
c.72604T>C (p.Tyr24202His)
c.94099T>C (p.Tyr31367His)
c.94096T>C (p.Tyr31366His)
c.93529T>C (p.Tyr31177His)
c.90871T>C (p.Tyr30291His)
c.90790T>C (p.Tyr30264His)
c.72553T>C (p.Tyr24185His)
c.62407T>C (p.Tyr20803His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178537549A>TCA349427742TTN,TTN-AS1c.91954T>A (p.Tyr30652Asn)
c.73039T>A (p.Tyr24347Asn)
c.72838T>A (p.Tyr24280Asn)
c.72463T>A (p.Tyr24155Asn)
c.99658T>A (p.Tyr33220Asn)
c.94735T>A (p.Tyr31579Asn)
n.446+13913A>T
n.505A>T
c.98755T>A (p.Tyr32919Asn)
c.72649T>A (p.Tyr24217Asn)
c.72508T>A (p.Tyr24170Asn)
c.98551T>A (p.Tyr32851Asn)
c.93949T>A (p.Tyr31317Asn)
c.93946T>A (p.Tyr31316Asn)
c.90988T>A (p.Tyr30330Asn)
c.72604T>A (p.Tyr24202Asn)
c.94099T>A (p.Tyr31367Asn)
c.94096T>A (p.Tyr31366Asn)
c.93529T>A (p.Tyr31177Asn)
c.90871T>A (p.Tyr30291Asn)
c.90790T>A (p.Tyr30264Asn)
c.72553T>A (p.Tyr24185Asn)
c.62407T>A (p.Tyr20803Asn)
2g.178537550C>ACA349427744TTN,TTN-AS1c.91953G>T (p.Met30651Ile)
c.73038G>T (p.Met24346Ile)
c.72837G>T (p.Met24279Ile)
c.72462G>T (p.Met24154Ile)
c.99657G>T (p.Met33219Ile)
c.94734G>T (p.Met31578Ile)
n.446+13914C>A
n.506C>A
c.98754G>T (p.Met32918Ile)
c.72648G>T (p.Met24216Ile)
c.72507G>T (p.Met24169Ile)
c.98550G>T (p.Met32850Ile)
c.93948G>T (p.Met31316Ile)
c.93945G>T (p.Met31315Ile)
c.90987G>T (p.Met30329Ile)
c.72603G>T (p.Met24201Ile)
c.94098G>T (p.Met31366Ile)
c.94095G>T (p.Met31365Ile)
c.93528G>T (p.Met31176Ile)
c.90870G>T (p.Met30290Ile)
c.90789G>T (p.Met30263Ile)
c.72552G>T (p.Met24184Ile)
c.62406G>T (p.Met20802Ile)
 gnomAD v4
2g.178537550C>GCA349427745TTN,TTN-AS1c.91953G>C (p.Met30651Ile)
c.73038G>C (p.Met24346Ile)
c.72837G>C (p.Met24279Ile)
c.72462G>C (p.Met24154Ile)
c.99657G>C (p.Met33219Ile)
c.94734G>C (p.Met31578Ile)
n.446+13914C>G
n.506C>G
c.98754G>C (p.Met32918Ile)
c.72648G>C (p.Met24216Ile)
c.72507G>C (p.Met24169Ile)
c.98550G>C (p.Met32850Ile)
c.93948G>C (p.Met31316Ile)
c.93945G>C (p.Met31315Ile)
c.90987G>C (p.Met30329Ile)
c.72603G>C (p.Met24201Ile)
c.94098G>C (p.Met31366Ile)
c.94095G>C (p.Met31365Ile)
c.93528G>C (p.Met31176Ile)
c.90870G>C (p.Met30290Ile)
c.90789G>C (p.Met30263Ile)
c.72552G>C (p.Met24184Ile)
c.62406G>C (p.Met20802Ile)
2g.178537550C>TCA349427746TTN,TTN-AS1c.91953G>A (p.Met30651Ile)
c.73038G>A (p.Met24346Ile)
c.72837G>A (p.Met24279Ile)
c.72462G>A (p.Met24154Ile)
c.99657G>A (p.Met33219Ile)
c.94734G>A (p.Met31578Ile)
n.446+13914C>T
n.506C>T
c.98754G>A (p.Met32918Ile)
c.72648G>A (p.Met24216Ile)
c.72507G>A (p.Met24169Ile)
c.98550G>A (p.Met32850Ile)
c.93948G>A (p.Met31316Ile)
c.93945G>A (p.Met31315Ile)
c.90987G>A (p.Met30329Ile)
c.72603G>A (p.Met24201Ile)
c.94098G>A (p.Met31366Ile)
c.94095G>A (p.Met31365Ile)
c.93528G>A (p.Met31176Ile)
c.90870G>A (p.Met30290Ile)
c.90789G>A (p.Met30263Ile)
c.72552G>A (p.Met24184Ile)
c.62406G>A (p.Met20802Ile)
2g.178537551A=CA1310515515TTN,TTN-AS1c.91952T= (p.Met30651=)
c.73037T= (p.Met24346=)
c.72836T= (p.Met24279=)
c.72461T= (p.Met24154=)
c.99656T= (p.Met33219=)
c.94733T= (p.Met31578=)
n.446+13915A=
n.507A=
c.98753T= (p.Met32918=)
c.72647T= (p.Met24216=)
c.72506T= (p.Met24169=)
c.98549T= (p.Met32850=)
c.93947T= (p.Met31316=)
c.93944T= (p.Met31315=)
c.90986T= (p.Met30329=)
c.72602T= (p.Met24201=)
c.94097T= (p.Met31366=)
c.94094T= (p.Met31365=)
c.93527T= (p.Met31176=)
c.90869T= (p.Met30290=)
c.90788T= (p.Met30263=)
c.72551T= (p.Met24184=)
c.62405T= (p.Met20802=)
2g.178537551A>CCA349427747TTN,TTN-AS1c.91952T>G (p.Met30651Arg)
c.73037T>G (p.Met24346Arg)
c.72836T>G (p.Met24279Arg)
c.72461T>G (p.Met24154Arg)
c.99656T>G (p.Met33219Arg)
c.94733T>G (p.Met31578Arg)
n.446+13915A>C
n.507A>C
c.98753T>G (p.Met32918Arg)
c.72647T>G (p.Met24216Arg)
c.72506T>G (p.Met24169Arg)
c.98549T>G (p.Met32850Arg)
c.93947T>G (p.Met31316Arg)
c.93944T>G (p.Met31315Arg)
c.90986T>G (p.Met30329Arg)
c.72602T>G (p.Met24201Arg)
c.94097T>G (p.Met31366Arg)
c.94094T>G (p.Met31365Arg)
c.93527T>G (p.Met31176Arg)
c.90869T>G (p.Met30290Arg)
c.90788T>G (p.Met30263Arg)
c.72551T>G (p.Met24184Arg)
c.62405T>G (p.Met20802Arg)
 gnomAD v4
2g.178537551A>GCA349427748TTN,TTN-AS1c.91952T>C (p.Met30651Thr)
c.73037T>C (p.Met24346Thr)
c.72836T>C (p.Met24279Thr)
c.72461T>C (p.Met24154Thr)
c.99656T>C (p.Met33219Thr)
c.94733T>C (p.Met31578Thr)
n.446+13915A>G
n.507A>G
c.98753T>C (p.Met32918Thr)
c.72647T>C (p.Met24216Thr)
c.72506T>C (p.Met24169Thr)
c.98549T>C (p.Met32850Thr)
c.93947T>C (p.Met31316Thr)
c.93944T>C (p.Met31315Thr)
c.90986T>C (p.Met30329Thr)
c.72602T>C (p.Met24201Thr)
c.94097T>C (p.Met31366Thr)
c.94094T>C (p.Met31365Thr)
c.93527T>C (p.Met31176Thr)
c.90869T>C (p.Met30290Thr)
c.90788T>C (p.Met30263Thr)
c.72551T>C (p.Met24184Thr)
c.62405T>C (p.Met20802Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178537551A>TCA349427749TTN,TTN-AS1c.91952T>A (p.Met30651Lys)
c.73037T>A (p.Met24346Lys)
c.72836T>A (p.Met24279Lys)
c.72461T>A (p.Met24154Lys)
c.99656T>A (p.Met33219Lys)
c.94733T>A (p.Met31578Lys)
n.446+13915A>T
n.507A>T
c.98753T>A (p.Met32918Lys)
c.72647T>A (p.Met24216Lys)
c.72506T>A (p.Met24169Lys)
c.98549T>A (p.Met32850Lys)
c.93947T>A (p.Met31316Lys)
c.93944T>A (p.Met31315Lys)
c.90986T>A (p.Met30329Lys)
c.72602T>A (p.Met24201Lys)
c.94097T>A (p.Met31366Lys)
c.94094T>A (p.Met31365Lys)
c.93527T>A (p.Met31176Lys)
c.90869T>A (p.Met30290Lys)
c.90788T>A (p.Met30263Lys)
c.72551T>A (p.Met24184Lys)
c.62405T>A (p.Met20802Lys)
2g.178537552T>ACA349427750TTN,TTN-AS1c.91951A>T (p.Met30651Leu)
c.73036A>T (p.Met24346Leu)
c.72835A>T (p.Met24279Leu)
c.72460A>T (p.Met24154Leu)
c.99655A>T (p.Met33219Leu)
c.94732A>T (p.Met31578Leu)
n.446+13916T>A
n.508T>A
c.98752A>T (p.Met32918Leu)
c.72646A>T (p.Met24216Leu)
c.72505A>T (p.Met24169Leu)
c.98548A>T (p.Met32850Leu)
c.93946A>T (p.Met31316Leu)
c.93943A>T (p.Met31315Leu)
c.90985A>T (p.Met30329Leu)
c.72601A>T (p.Met24201Leu)
c.94096A>T (p.Met31366Leu)
c.94093A>T (p.Met31365Leu)
c.93526A>T (p.Met31176Leu)
c.90868A>T (p.Met30290Leu)
c.90787A>T (p.Met30263Leu)
c.72550A>T (p.Met24184Leu)
c.62404A>T (p.Met20802Leu)
2g.178537552T>CCA349427751TTN,TTN-AS1c.91951A>G (p.Met30651Val)
c.73036A>G (p.Met24346Val)
c.72835A>G (p.Met24279Val)
c.72460A>G (p.Met24154Val)
c.99655A>G (p.Met33219Val)
c.94732A>G (p.Met31578Val)
n.446+13916T>C
n.508T>C
c.98752A>G (p.Met32918Val)
c.72646A>G (p.Met24216Val)
c.72505A>G (p.Met24169Val)
c.98548A>G (p.Met32850Val)
c.93946A>G (p.Met31316Val)
c.93943A>G (p.Met31315Val)
c.90985A>G (p.Met30329Val)
c.72601A>G (p.Met24201Val)
c.94096A>G (p.Met31366Val)
c.94093A>G (p.Met31365Val)
c.93526A>G (p.Met31176Val)
c.90868A>G (p.Met30290Val)
c.90787A>G (p.Met30263Val)
c.72550A>G (p.Met24184Val)
c.62404A>G (p.Met20802Val)
2g.178537552T>GCA349427752TTN,TTN-AS1c.91951A>C (p.Met30651Leu)
c.73036A>C (p.Met24346Leu)
c.72835A>C (p.Met24279Leu)
c.72460A>C (p.Met24154Leu)
c.99655A>C (p.Met33219Leu)
c.94732A>C (p.Met31578Leu)
n.446+13916T>G
n.508T>G
c.98752A>C (p.Met32918Leu)
c.72646A>C (p.Met24216Leu)
c.72505A>C (p.Met24169Leu)
c.98548A>C (p.Met32850Leu)
c.93946A>C (p.Met31316Leu)
c.93943A>C (p.Met31315Leu)
c.90985A>C (p.Met30329Leu)
c.72601A>C (p.Met24201Leu)
c.94096A>C (p.Met31366Leu)
c.94093A>C (p.Met31365Leu)
c.93526A>C (p.Met31176Leu)
c.90868A>C (p.Met30290Leu)
c.90787A>C (p.Met30263Leu)
c.72550A>C (p.Met24184Leu)
c.62404A>C (p.Met20802Leu)
2g.178537553A>CCA430239265TTN,TTN-AS1c.91950T>G (p.Val30650=)
c.73035T>G (p.Val24345=)
c.72834T>G (p.Val24278=)
c.72459T>G (p.Val24153=)
c.99654T>G (p.Val33218=)
c.94731T>G (p.Val31577=)
n.446+13917A>C
n.509A>C
c.98751T>G (p.Val32917=)
c.72645T>G (p.Val24215=)
c.72504T>G (p.Val24168=)
c.98547T>G (p.Val32849=)
c.93945T>G (p.Val31315=)
c.93942T>G (p.Val31314=)
c.90984T>G (p.Val30328=)
c.72600T>G (p.Val24200=)
c.94095T>G (p.Val31365=)
c.94092T>G (p.Val31364=)
c.93525T>G (p.Val31175=)
c.90867T>G (p.Val30289=)
c.90786T>G (p.Val30262=)
c.72549T>G (p.Val24183=)
c.62403T>G (p.Val20801=)
2g.178537553A>GCA430239266TTN,TTN-AS1c.91950T>C (p.Val30650=)
c.73035T>C (p.Val24345=)
c.72834T>C (p.Val24278=)
c.72459T>C (p.Val24153=)
c.99654T>C (p.Val33218=)
c.94731T>C (p.Val31577=)
n.446+13917A>G
n.509A>G
c.98751T>C (p.Val32917=)
c.72645T>C (p.Val24215=)
c.72504T>C (p.Val24168=)
c.98547T>C (p.Val32849=)
c.93945T>C (p.Val31315=)
c.93942T>C (p.Val31314=)
c.90984T>C (p.Val30328=)
c.72600T>C (p.Val24200=)
c.94095T>C (p.Val31365=)
c.94092T>C (p.Val31364=)
c.93525T>C (p.Val31175=)
c.90867T>C (p.Val30289=)
c.90786T>C (p.Val30262=)
c.72549T>C (p.Val24183=)
c.62403T>C (p.Val20801=)
2g.178537553A>TCA430239267TTN,TTN-AS1c.91950T>A (p.Val30650=)
c.73035T>A (p.Val24345=)
c.72834T>A (p.Val24278=)
c.72459T>A (p.Val24153=)
c.99654T>A (p.Val33218=)
c.94731T>A (p.Val31577=)
n.446+13917A>T
n.509A>T
c.98751T>A (p.Val32917=)
c.72645T>A (p.Val24215=)
c.72504T>A (p.Val24168=)
c.98547T>A (p.Val32849=)
c.93945T>A (p.Val31315=)
c.93942T>A (p.Val31314=)
c.90984T>A (p.Val30328=)
c.72600T>A (p.Val24200=)
c.94095T>A (p.Val31365=)
c.94092T>A (p.Val31364=)
c.93525T>A (p.Val31175=)
c.90867T>A (p.Val30289=)
c.90786T>A (p.Val30262=)
c.72549T>A (p.Val24183=)
c.62403T>A (p.Val20801=)
2g.178537554A>CCA349427753TTN,TTN-AS1c.91949T>G (p.Val30650Gly)
c.73034T>G (p.Val24345Gly)
c.72833T>G (p.Val24278Gly)
c.72458T>G (p.Val24153Gly)
c.99653T>G (p.Val33218Gly)
c.94730T>G (p.Val31577Gly)
n.446+13918A>C
n.510A>C
c.98750T>G (p.Val32917Gly)
c.72644T>G (p.Val24215Gly)
c.72503T>G (p.Val24168Gly)
c.98546T>G (p.Val32849Gly)
c.93944T>G (p.Val31315Gly)
c.93941T>G (p.Val31314Gly)
c.90983T>G (p.Val30328Gly)
c.72599T>G (p.Val24200Gly)
c.94094T>G (p.Val31365Gly)
c.94091T>G (p.Val31364Gly)
c.93524T>G (p.Val31175Gly)
c.90866T>G (p.Val30289Gly)
c.90785T>G (p.Val30262Gly)
c.72548T>G (p.Val24183Gly)
c.62402T>G (p.Val20801Gly)
2g.178537554A>GCA349427754TTN,TTN-AS1c.91949T>C (p.Val30650Ala)
c.73034T>C (p.Val24345Ala)
c.72833T>C (p.Val24278Ala)
c.72458T>C (p.Val24153Ala)
c.99653T>C (p.Val33218Ala)
c.94730T>C (p.Val31577Ala)
n.446+13918A>G
n.510A>G
c.98750T>C (p.Val32917Ala)
c.72644T>C (p.Val24215Ala)
c.72503T>C (p.Val24168Ala)
c.98546T>C (p.Val32849Ala)
c.93944T>C (p.Val31315Ala)
c.93941T>C (p.Val31314Ala)
c.90983T>C (p.Val30328Ala)
c.72599T>C (p.Val24200Ala)
c.94094T>C (p.Val31365Ala)
c.94091T>C (p.Val31364Ala)
c.93524T>C (p.Val31175Ala)
c.90866T>C (p.Val30289Ala)
c.90785T>C (p.Val30262Ala)
c.72548T>C (p.Val24183Ala)
c.62402T>C (p.Val20801Ala)
2g.178537554A>TCA349427755TTN,TTN-AS1c.91949T>A (p.Val30650Asp)
c.73034T>A (p.Val24345Asp)
c.72833T>A (p.Val24278Asp)
c.72458T>A (p.Val24153Asp)
c.99653T>A (p.Val33218Asp)
c.94730T>A (p.Val31577Asp)
n.446+13918A>T
n.510A>T
c.98750T>A (p.Val32917Asp)
c.72644T>A (p.Val24215Asp)
c.72503T>A (p.Val24168Asp)
c.98546T>A (p.Val32849Asp)
c.93944T>A (p.Val31315Asp)
c.93941T>A (p.Val31314Asp)
c.90983T>A (p.Val30328Asp)
c.72599T>A (p.Val24200Asp)
c.94094T>A (p.Val31365Asp)
c.94091T>A (p.Val31364Asp)
c.93524T>A (p.Val31175Asp)
c.90866T>A (p.Val30289Asp)
c.90785T>A (p.Val30262Asp)
c.72548T>A (p.Val24183Asp)
c.62402T>A (p.Val20801Asp)
2g.178537555C>ACA349427757TTN,TTN-AS1c.91948G>T (p.Val30650Phe)
c.73033G>T (p.Val24345Phe)
c.72832G>T (p.Val24278Phe)
c.72457G>T (p.Val24153Phe)
c.99652G>T (p.Val33218Phe)
c.94729G>T (p.Val31577Phe)
n.446+13919C>A
n.511C>A
c.98749G>T (p.Val32917Phe)
c.72643G>T (p.Val24215Phe)
c.72502G>T (p.Val24168Phe)
c.98545G>T (p.Val32849Phe)
c.93943G>T (p.Val31315Phe)
c.93940G>T (p.Val31314Phe)
c.90982G>T (p.Val30328Phe)
c.72598G>T (p.Val24200Phe)
c.94093G>T (p.Val31365Phe)
c.94090G>T (p.Val31364Phe)
c.93523G>T (p.Val31175Phe)
c.90865G>T (p.Val30289Phe)
c.90784G>T (p.Val30262Phe)
c.72547G>T (p.Val24183Phe)
c.62401G>T (p.Val20801Phe)
2g.178537555C=CA1310515516TTN,TTN-AS1c.91948G= (p.Val30650=)
c.73033G= (p.Val24345=)
c.72832G= (p.Val24278=)
c.72457G= (p.Val24153=)
c.99652G= (p.Val33218=)
c.94729G= (p.Val31577=)
n.446+13919C=
n.511C=
c.98749G= (p.Val32917=)
c.72643G= (p.Val24215=)
c.72502G= (p.Val24168=)
c.98545G= (p.Val32849=)
c.93943G= (p.Val31315=)
c.93940G= (p.Val31314=)
c.90982G= (p.Val30328=)
c.72598G= (p.Val24200=)
c.94093G= (p.Val31365=)
c.94090G= (p.Val31364=)
c.93523G= (p.Val31175=)
c.90865G= (p.Val30289=)
c.90784G= (p.Val30262=)
c.72547G= (p.Val24183=)
c.62401G= (p.Val20801=)
2g.178537555C>GCA349427758TTN,TTN-AS1c.91948G>C (p.Val30650Leu)
c.73033G>C (p.Val24345Leu)
c.72832G>C (p.Val24278Leu)
c.72457G>C (p.Val24153Leu)
c.99652G>C (p.Val33218Leu)
c.94729G>C (p.Val31577Leu)
n.446+13919C>G
n.511C>G
c.98749G>C (p.Val32917Leu)
c.72643G>C (p.Val24215Leu)
c.72502G>C (p.Val24168Leu)
c.98545G>C (p.Val32849Leu)
c.93943G>C (p.Val31315Leu)
c.93940G>C (p.Val31314Leu)
c.90982G>C (p.Val30328Leu)
c.72598G>C (p.Val24200Leu)
c.94093G>C (p.Val31365Leu)
c.94090G>C (p.Val31364Leu)
c.93523G>C (p.Val31175Leu)
c.90865G>C (p.Val30289Leu)
c.90784G>C (p.Val30262Leu)
c.72547G>C (p.Val24183Leu)
c.62401G>C (p.Val20801Leu)
2g.178537555C>TCA349427756TTN,TTN-AS1c.91948G>A (p.Val30650Ile)
c.73033G>A (p.Val24345Ile)
c.72832G>A (p.Val24278Ile)
c.72457G>A (p.Val24153Ile)
c.99652G>A (p.Val33218Ile)
c.94729G>A (p.Val31577Ile)
n.446+13919C>T
n.511C>T
c.98749G>A (p.Val32917Ile)
c.72643G>A (p.Val24215Ile)
c.72502G>A (p.Val24168Ile)
c.98545G>A (p.Val32849Ile)
c.93943G>A (p.Val31315Ile)
c.93940G>A (p.Val31314Ile)
c.90982G>A (p.Val30328Ile)
c.72598G>A (p.Val24200Ile)
c.94093G>A (p.Val31365Ile)
c.94090G>A (p.Val31364Ile)
c.93523G>A (p.Val31175Ile)
c.90865G>A (p.Val30289Ile)
c.90784G>A (p.Val30262Ile)
c.72547G>A (p.Val24183Ile)
c.62401G>A (p.Val20801Ile)
 dbSNP gnomAD v4
2g.178537556A=CA1310515518TTN,TTN-AS1c.91947T= (p.His30649=)
c.73032T= (p.His24344=)
c.72831T= (p.His24277=)
c.72456T= (p.His24152=)
c.99651T= (p.His33217=)
c.94728T= (p.His31576=)
n.446+13920A=
n.512A=
c.98748T= (p.His32916=)
c.72642T= (p.His24214=)
c.72501T= (p.His24167=)
c.98544T= (p.His32848=)
c.93942T= (p.His31314=)
c.93939T= (p.His31313=)
c.90981T= (p.His30327=)
c.72597T= (p.His24199=)
c.94092T= (p.His31364=)
c.94089T= (p.His31363=)
c.93522T= (p.His31174=)
c.90864T= (p.His30288=)
c.90783T= (p.His30261=)
c.72546T= (p.His24182=)
c.62400T= (p.His20800=)
2g.178537556A>CCA349427759TTN,TTN-AS1c.91947T>G (p.His30649Gln)
c.73032T>G (p.His24344Gln)
c.72831T>G (p.His24277Gln)
c.72456T>G (p.His24152Gln)
c.99651T>G (p.His33217Gln)
c.94728T>G (p.His31576Gln)
n.446+13920A>C
n.512A>C
c.98748T>G (p.His32916Gln)
c.72642T>G (p.His24214Gln)
c.72501T>G (p.His24167Gln)
c.98544T>G (p.His32848Gln)
c.93942T>G (p.His31314Gln)
c.93939T>G (p.His31313Gln)
c.90981T>G (p.His30327Gln)
c.72597T>G (p.His24199Gln)
c.94092T>G (p.His31364Gln)
c.94089T>G (p.His31363Gln)
c.93522T>G (p.His31174Gln)
c.90864T>G (p.His30288Gln)
c.90783T>G (p.His30261Gln)
c.72546T>G (p.His24182Gln)
c.62400T>G (p.His20800Gln)
2g.178537556A>GCA430239272TTN,TTN-AS1c.91947T>C (p.His30649=)
c.73032T>C (p.His24344=)
c.72831T>C (p.His24277=)
c.72456T>C (p.His24152=)
c.99651T>C (p.His33217=)
c.94728T>C (p.His31576=)
n.446+13920A>G
n.512A>G
c.98748T>C (p.His32916=)
c.72642T>C (p.His24214=)
c.72501T>C (p.His24167=)
c.98544T>C (p.His32848=)
c.93942T>C (p.His31314=)
c.93939T>C (p.His31313=)
c.90981T>C (p.His30327=)
c.72597T>C (p.His24199=)
c.94092T>C (p.His31364=)
c.94089T>C (p.His31363=)
c.93522T>C (p.His31174=)
c.90864T>C (p.His30288=)
c.90783T>C (p.His30261=)
c.72546T>C (p.His24182=)
c.62400T>C (p.His20800=)
 dbSNP gnomAD v3 gnomAD v4
2g.178537556A>TCA349427760TTN,TTN-AS1c.91947T>A (p.His30649Gln)
c.73032T>A (p.His24344Gln)
c.72831T>A (p.His24277Gln)
c.72456T>A (p.His24152Gln)
c.99651T>A (p.His33217Gln)
c.94728T>A (p.His31576Gln)
n.446+13920A>T
n.512A>T
c.98748T>A (p.His32916Gln)
c.72642T>A (p.His24214Gln)
c.72501T>A (p.His24167Gln)
c.98544T>A (p.His32848Gln)
c.93942T>A (p.His31314Gln)
c.93939T>A (p.His31313Gln)
c.90981T>A (p.His30327Gln)
c.72597T>A (p.His24199Gln)
c.94092T>A (p.His31364Gln)
c.94089T>A (p.His31363Gln)
c.93522T>A (p.His31174Gln)
c.90864T>A (p.His30288Gln)
c.90783T>A (p.His30261Gln)
c.72546T>A (p.His24182Gln)
c.62400T>A (p.His20800Gln)
2g.178537557T>ACA349427761TTN,TTN-AS1c.91946A>T (p.His30649Leu)
c.73031A>T (p.His24344Leu)
c.72830A>T (p.His24277Leu)
c.72455A>T (p.His24152Leu)
c.99650A>T (p.His33217Leu)
c.94727A>T (p.His31576Leu)
n.446+13921T>A
n.513T>A
c.98747A>T (p.His32916Leu)
c.72641A>T (p.His24214Leu)
c.72500A>T (p.His24167Leu)
c.98543A>T (p.His32848Leu)
c.93941A>T (p.His31314Leu)
c.93938A>T (p.His31313Leu)
c.90980A>T (p.His30327Leu)
c.72596A>T (p.His24199Leu)
c.94091A>T (p.His31364Leu)
c.94088A>T (p.His31363Leu)
c.93521A>T (p.His31174Leu)
c.90863A>T (p.His30288Leu)
c.90782A>T (p.His30261Leu)
c.72545A>T (p.His24182Leu)
c.62399A>T (p.His20800Leu)
2g.178537557T>CCA349427762TTN,TTN-AS1c.91946A>G (p.His30649Arg)
c.73031A>G (p.His24344Arg)
c.72830A>G (p.His24277Arg)
c.72455A>G (p.His24152Arg)
c.99650A>G (p.His33217Arg)
c.94727A>G (p.His31576Arg)
n.446+13921T>C
n.513T>C
c.98747A>G (p.His32916Arg)
c.72641A>G (p.His24214Arg)
c.72500A>G (p.His24167Arg)
c.98543A>G (p.His32848Arg)
c.93941A>G (p.His31314Arg)
c.93938A>G (p.His31313Arg)
c.90980A>G (p.His30327Arg)
c.72596A>G (p.His24199Arg)
c.94091A>G (p.His31364Arg)
c.94088A>G (p.His31363Arg)
c.93521A>G (p.His31174Arg)
c.90863A>G (p.His30288Arg)
c.90782A>G (p.His30261Arg)
c.72545A>G (p.His24182Arg)
c.62399A>G (p.His20800Arg)
2g.178537557T>GCA349427763TTN,TTN-AS1c.91946A>C (p.His30649Pro)
c.73031A>C (p.His24344Pro)
c.72830A>C (p.His24277Pro)
c.72455A>C (p.His24152Pro)
c.99650A>C (p.His33217Pro)
c.94727A>C (p.His31576Pro)
n.446+13921T>G
n.513T>G
c.98747A>C (p.His32916Pro)
c.72641A>C (p.His24214Pro)
c.72500A>C (p.His24167Pro)
c.98543A>C (p.His32848Pro)
c.93941A>C (p.His31314Pro)
c.93938A>C (p.His31313Pro)
c.90980A>C (p.His30327Pro)
c.72596A>C (p.His24199Pro)
c.94091A>C (p.His31364Pro)
c.94088A>C (p.His31363Pro)
c.93521A>C (p.His31174Pro)
c.90863A>C (p.His30288Pro)
c.90782A>C (p.His30261Pro)
c.72545A>C (p.His24182Pro)
c.62399A>C (p.His20800Pro)
2g.178537558G>ACA349427764TTN,TTN-AS1c.91945C>T (p.His30649Tyr)
c.73030C>T (p.His24344Tyr)
c.72829C>T (p.His24277Tyr)
c.72454C>T (p.His24152Tyr)
c.99649C>T (p.His33217Tyr)
c.94726C>T (p.His31576Tyr)
n.446+13922G>A
n.514G>A
c.98746C>T (p.His32916Tyr)
c.72640C>T (p.His24214Tyr)
c.72499C>T (p.His24167Tyr)
c.98542C>T (p.His32848Tyr)
c.93940C>T (p.His31314Tyr)
c.93937C>T (p.His31313Tyr)
c.90979C>T (p.His30327Tyr)
c.72595C>T (p.His24199Tyr)
c.94090C>T (p.His31364Tyr)
c.94087C>T (p.His31363Tyr)
c.93520C>T (p.His31174Tyr)
c.90862C>T (p.His30288Tyr)
c.90781C>T (p.His30261Tyr)
c.72544C>T (p.His24182Tyr)
c.62398C>T (p.His20800Tyr)
2g.178537558G>CCA349427765TTN,TTN-AS1c.91945C>G (p.His30649Asp)
c.73030C>G (p.His24344Asp)
c.72829C>G (p.His24277Asp)
c.72454C>G (p.His24152Asp)
c.99649C>G (p.His33217Asp)
c.94726C>G (p.His31576Asp)
n.446+13922G>C
n.514G>C
c.98746C>G (p.His32916Asp)
c.72640C>G (p.His24214Asp)
c.72499C>G (p.His24167Asp)
c.98542C>G (p.His32848Asp)
c.93940C>G (p.His31314Asp)
c.93937C>G (p.His31313Asp)
c.90979C>G (p.His30327Asp)
c.72595C>G (p.His24199Asp)
c.94090C>G (p.His31364Asp)
c.94087C>G (p.His31363Asp)
c.93520C>G (p.His31174Asp)
c.90862C>G (p.His30288Asp)
c.90781C>G (p.His30261Asp)
c.72544C>G (p.His24182Asp)
c.62398C>G (p.His20800Asp)
2g.178537558G>TCA349427766TTN,TTN-AS1c.91945C>A (p.His30649Asn)
c.73030C>A (p.His24344Asn)
c.72829C>A (p.His24277Asn)
c.72454C>A (p.His24152Asn)
c.99649C>A (p.His33217Asn)
c.94726C>A (p.His31576Asn)
n.446+13922G>T
n.514G>T
c.98746C>A (p.His32916Asn)
c.72640C>A (p.His24214Asn)
c.72499C>A (p.His24167Asn)
c.98542C>A (p.His32848Asn)
c.93940C>A (p.His31314Asn)
c.93937C>A (p.His31313Asn)
c.90979C>A (p.His30327Asn)
c.72595C>A (p.His24199Asn)
c.94090C>A (p.His31364Asn)
c.94087C>A (p.His31363Asn)
c.93520C>A (p.His31174Asn)
c.90862C>A (p.His30288Asn)
c.90781C>A (p.His30261Asn)
c.72544C>A (p.His24182Asn)
c.62398C>A (p.His20800Asn)
2g.178537559A>CCA430239278TTN,TTN-AS1c.91944T>G (p.Leu30648=)
c.73029T>G (p.Leu24343=)
c.72828T>G (p.Leu24276=)
c.72453T>G (p.Leu24151=)
c.99648T>G (p.Leu33216=)
c.94725T>G (p.Leu31575=)
n.446+13923A>C
n.515A>C
c.98745T>G (p.Leu32915=)
c.72639T>G (p.Leu24213=)
c.72498T>G (p.Leu24166=)
c.98541T>G (p.Leu32847=)
c.93939T>G (p.Leu31313=)
c.93936T>G (p.Leu31312=)
c.90978T>G (p.Leu30326=)
c.72594T>G (p.Leu24198=)
c.94089T>G (p.Leu31363=)
c.94086T>G (p.Leu31362=)
c.93519T>G (p.Leu31173=)
c.90861T>G (p.Leu30287=)
c.90780T>G (p.Leu30260=)
c.72543T>G (p.Leu24181=)
c.62397T>G (p.Leu20799=)
2g.178537559A>GCA430239279TTN,TTN-AS1c.91944T>C (p.Leu30648=)
c.73029T>C (p.Leu24343=)
c.72828T>C (p.Leu24276=)
c.72453T>C (p.Leu24151=)
c.99648T>C (p.Leu33216=)
c.94725T>C (p.Leu31575=)
n.446+13923A>G
n.515A>G
c.98745T>C (p.Leu32915=)
c.72639T>C (p.Leu24213=)
c.72498T>C (p.Leu24166=)
c.98541T>C (p.Leu32847=)
c.93939T>C (p.Leu31313=)
c.93936T>C (p.Leu31312=)
c.90978T>C (p.Leu30326=)
c.72594T>C (p.Leu24198=)
c.94089T>C (p.Leu31363=)
c.94086T>C (p.Leu31362=)
c.93519T>C (p.Leu31173=)
c.90861T>C (p.Leu30287=)
c.90780T>C (p.Leu30260=)
c.72543T>C (p.Leu24181=)
c.62397T>C (p.Leu20799=)
2g.178537559A>TCA430239280TTN,TTN-AS1c.91944T>A (p.Leu30648=)
c.73029T>A (p.Leu24343=)
c.72828T>A (p.Leu24276=)
c.72453T>A (p.Leu24151=)
c.99648T>A (p.Leu33216=)
c.94725T>A (p.Leu31575=)
n.446+13923A>T
n.515A>T
c.98745T>A (p.Leu32915=)
c.72639T>A (p.Leu24213=)
c.72498T>A (p.Leu24166=)
c.98541T>A (p.Leu32847=)
c.93939T>A (p.Leu31313=)
c.93936T>A (p.Leu31312=)
c.90978T>A (p.Leu30326=)
c.72594T>A (p.Leu24198=)
c.94089T>A (p.Leu31363=)
c.94086T>A (p.Leu31362=)
c.93519T>A (p.Leu31173=)
c.90861T>A (p.Leu30287=)
c.90780T>A (p.Leu30260=)
c.72543T>A (p.Leu24181=)
c.62397T>A (p.Leu20799=)
2g.178537560A>CCA349427769TTN,TTN-AS1c.91943T>G (p.Leu30648Arg)
c.73028T>G (p.Leu24343Arg)
c.72827T>G (p.Leu24276Arg)
c.72452T>G (p.Leu24151Arg)
c.99647T>G (p.Leu33216Arg)
c.94724T>G (p.Leu31575Arg)
n.446+13924A>C
n.516A>C
c.98744T>G (p.Leu32915Arg)
c.72638T>G (p.Leu24213Arg)
c.72497T>G (p.Leu24166Arg)
c.98540T>G (p.Leu32847Arg)
c.93938T>G (p.Leu31313Arg)
c.93935T>G (p.Leu31312Arg)
c.90977T>G (p.Leu30326Arg)
c.72593T>G (p.Leu24198Arg)
c.94088T>G (p.Leu31363Arg)
c.94085T>G (p.Leu31362Arg)
c.93518T>G (p.Leu31173Arg)
c.90860T>G (p.Leu30287Arg)
c.90779T>G (p.Leu30260Arg)
c.72542T>G (p.Leu24181Arg)
c.62396T>G (p.Leu20799Arg)
2g.178537560A>GCA349427768TTN,TTN-AS1c.91943T>C (p.Leu30648Pro)
c.73028T>C (p.Leu24343Pro)
c.72827T>C (p.Leu24276Pro)
c.72452T>C (p.Leu24151Pro)
c.99647T>C (p.Leu33216Pro)
c.94724T>C (p.Leu31575Pro)
n.446+13924A>G
n.516A>G
c.98744T>C (p.Leu32915Pro)
c.72638T>C (p.Leu24213Pro)
c.72497T>C (p.Leu24166Pro)
c.98540T>C (p.Leu32847Pro)
c.93938T>C (p.Leu31313Pro)
c.93935T>C (p.Leu31312Pro)
c.90977T>C (p.Leu30326Pro)
c.72593T>C (p.Leu24198Pro)
c.94088T>C (p.Leu31363Pro)
c.94085T>C (p.Leu31362Pro)
c.93518T>C (p.Leu31173Pro)
c.90860T>C (p.Leu30287Pro)
c.90779T>C (p.Leu30260Pro)
c.72542T>C (p.Leu24181Pro)
c.62396T>C (p.Leu20799Pro)
2g.178537560A>TCA349427767TTN,TTN-AS1c.91943T>A (p.Leu30648His)
c.73028T>A (p.Leu24343His)
c.72827T>A (p.Leu24276His)
c.72452T>A (p.Leu24151His)
c.99647T>A (p.Leu33216His)
c.94724T>A (p.Leu31575His)
n.446+13924A>T
n.516A>T
c.98744T>A (p.Leu32915His)
c.72638T>A (p.Leu24213His)
c.72497T>A (p.Leu24166His)
c.98540T>A (p.Leu32847His)
c.93938T>A (p.Leu31313His)
c.93935T>A (p.Leu31312His)
c.90977T>A (p.Leu30326His)
c.72593T>A (p.Leu24198His)
c.94088T>A (p.Leu31363His)
c.94085T>A (p.Leu31362His)
c.93518T>A (p.Leu31173His)
c.90860T>A (p.Leu30287His)
c.90779T>A (p.Leu30260His)
c.72542T>A (p.Leu24181His)
c.62396T>A (p.Leu20799His)
2g.178537561G>ACA349427770TTN,TTN-AS1c.91942C>T (p.Leu30648Phe)
c.73027C>T (p.Leu24343Phe)
c.72826C>T (p.Leu24276Phe)
c.72451C>T (p.Leu24151Phe)
c.99646C>T (p.Leu33216Phe)
c.94723C>T (p.Leu31575Phe)
n.446+13925G>A
n.517G>A
c.98743C>T (p.Leu32915Phe)
c.72637C>T (p.Leu24213Phe)
c.72496C>T (p.Leu24166Phe)
c.98539C>T (p.Leu32847Phe)
c.93937C>T (p.Leu31313Phe)
c.93934C>T (p.Leu31312Phe)
c.90976C>T (p.Leu30326Phe)
c.72592C>T (p.Leu24198Phe)
c.94087C>T (p.Leu31363Phe)
c.94084C>T (p.Leu31362Phe)
c.93517C>T (p.Leu31173Phe)
c.90859C>T (p.Leu30287Phe)
c.90778C>T (p.Leu30260Phe)
c.72541C>T (p.Leu24181Phe)
c.62395C>T (p.Leu20799Phe)
 dbSNP
2g.178537561G>CCA349427771TTN,TTN-AS1c.91942C>G (p.Leu30648Val)
c.73027C>G (p.Leu24343Val)
c.72826C>G (p.Leu24276Val)
c.72451C>G (p.Leu24151Val)
c.99646C>G (p.Leu33216Val)
c.94723C>G (p.Leu31575Val)
n.446+13925G>C
n.517G>C
c.98743C>G (p.Leu32915Val)
c.72637C>G (p.Leu24213Val)
c.72496C>G (p.Leu24166Val)
c.98539C>G (p.Leu32847Val)
c.93937C>G (p.Leu31313Val)
c.93934C>G (p.Leu31312Val)
c.90976C>G (p.Leu30326Val)
c.72592C>G (p.Leu24198Val)
c.94087C>G (p.Leu31363Val)
c.94084C>G (p.Leu31362Val)
c.93517C>G (p.Leu31173Val)
c.90859C>G (p.Leu30287Val)
c.90778C>G (p.Leu30260Val)
c.72541C>G (p.Leu24181Val)
c.62395C>G (p.Leu20799Val)
2g.178537561G=CA1310515519TTN,TTN-AS1c.91942C= (p.Leu30648=)
c.73027C= (p.Leu24343=)
c.72826C= (p.Leu24276=)
c.72451C= (p.Leu24151=)
c.99646C= (p.Leu33216=)
c.94723C= (p.Leu31575=)
n.446+13925G=
n.517G=
c.98743C= (p.Leu32915=)
c.72637C= (p.Leu24213=)
c.72496C= (p.Leu24166=)
c.98539C= (p.Leu32847=)
c.93937C= (p.Leu31313=)
c.93934C= (p.Leu31312=)
c.90976C= (p.Leu30326=)
c.72592C= (p.Leu24198=)
c.94087C= (p.Leu31363=)
c.94084C= (p.Leu31362=)
c.93517C= (p.Leu31173=)
c.90859C= (p.Leu30287=)
c.90778C= (p.Leu30260=)
c.72541C= (p.Leu24181=)
c.62395C= (p.Leu20799=)
2g.178537561G>TCA349427772TTN,TTN-AS1c.91942C>A (p.Leu30648Ile)
c.73027C>A (p.Leu24343Ile)
c.72826C>A (p.Leu24276Ile)
c.72451C>A (p.Leu24151Ile)
c.99646C>A (p.Leu33216Ile)
c.94723C>A (p.Leu31575Ile)
n.446+13925G>T
n.517G>T
c.98743C>A (p.Leu32915Ile)
c.72637C>A (p.Leu24213Ile)
c.72496C>A (p.Leu24166Ile)
c.98539C>A (p.Leu32847Ile)
c.93937C>A (p.Leu31313Ile)
c.93934C>A (p.Leu31312Ile)
c.90976C>A (p.Leu30326Ile)
c.72592C>A (p.Leu24198Ile)
c.94087C>A (p.Leu31363Ile)
c.94084C>A (p.Leu31362Ile)
c.93517C>A (p.Leu31173Ile)
c.90859C>A (p.Leu30287Ile)
c.90778C>A (p.Leu30260Ile)
c.72541C>A (p.Leu24181Ile)
c.62395C>A (p.Leu20799Ile)
2g.178537562C>ACA430239282TTN,TTN-AS1c.91941G>T (p.Arg30647=)
c.73026G>T (p.Arg24342=)
c.72825G>T (p.Arg24275=)
c.72450G>T (p.Arg24150=)
c.99645G>T (p.Arg33215=)
c.94722G>T (p.Arg31574=)
n.446+13926C>A
n.518C>A
c.98742G>T (p.Arg32914=)
c.72636G>T (p.Arg24212=)
c.72495G>T (p.Arg24165=)
c.98538G>T (p.Arg32846=)
c.93936G>T (p.Arg31312=)
c.93933G>T (p.Arg31311=)
c.90975G>T (p.Arg30325=)
c.72591G>T (p.Arg24197=)
c.94086G>T (p.Arg31362=)
c.94083G>T (p.Arg31361=)
c.93516G>T (p.Arg31172=)
c.90858G>T (p.Arg30286=)
c.90777G>T (p.Arg30259=)
c.72540G>T (p.Arg24180=)
c.62394G>T (p.Arg20798=)
2g.178537562C>GCA430239284TTN,TTN-AS1c.91941G>C (p.Arg30647=)
c.73026G>C (p.Arg24342=)
c.72825G>C (p.Arg24275=)
c.72450G>C (p.Arg24150=)
c.99645G>C (p.Arg33215=)
c.94722G>C (p.Arg31574=)
n.446+13926C>G
n.518C>G
c.98742G>C (p.Arg32914=)
c.72636G>C (p.Arg24212=)
c.72495G>C (p.Arg24165=)
c.98538G>C (p.Arg32846=)
c.93936G>C (p.Arg31312=)
c.93933G>C (p.Arg31311=)
c.90975G>C (p.Arg30325=)
c.72591G>C (p.Arg24197=)
c.94086G>C (p.Arg31362=)
c.94083G>C (p.Arg31361=)
c.93516G>C (p.Arg31172=)
c.90858G>C (p.Arg30286=)
c.90777G>C (p.Arg30259=)
c.72540G>C (p.Arg24180=)
c.62394G>C (p.Arg20798=)
2g.178537562C>TCA430239283TTN,TTN-AS1c.91941G>A (p.Arg30647=)
c.73026G>A (p.Arg24342=)
c.72825G>A (p.Arg24275=)
c.72450G>A (p.Arg24150=)
c.99645G>A (p.Arg33215=)
c.94722G>A (p.Arg31574=)
n.446+13926C>T
n.518C>T
c.98742G>A (p.Arg32914=)
c.72636G>A (p.Arg24212=)
c.72495G>A (p.Arg24165=)
c.98538G>A (p.Arg32846=)
c.93936G>A (p.Arg31312=)
c.93933G>A (p.Arg31311=)
c.90975G>A (p.Arg30325=)
c.72591G>A (p.Arg24197=)
c.94086G>A (p.Arg31362=)
c.94083G>A (p.Arg31361=)
c.93516G>A (p.Arg31172=)
c.90858G>A (p.Arg30286=)
c.90777G>A (p.Arg30259=)
c.72540G>A (p.Arg24180=)
c.62394G>A (p.Arg20798=)
 gnomAD v4 COSMIC COSMIC COSMIC
2g.178537563C>ACA349427773TTN,TTN-AS1c.91940G>T (p.Arg30647Leu)
c.73025G>T (p.Arg24342Leu)
c.72824G>T (p.Arg24275Leu)
c.72449G>T (p.Arg24150Leu)
c.99644G>T (p.Arg33215Leu)
c.94721G>T (p.Arg31574Leu)
n.446+13927C>A
n.519C>A
c.98741G>T (p.Arg32914Leu)
c.72635G>T (p.Arg24212Leu)
c.72494G>T (p.Arg24165Leu)
c.98537G>T (p.Arg32846Leu)
c.93935G>T (p.Arg31312Leu)
c.93932G>T (p.Arg31311Leu)
c.90974G>T (p.Arg30325Leu)
c.72590G>T (p.Arg24197Leu)
c.94085G>T (p.Arg31362Leu)
c.94082G>T (p.Arg31361Leu)
c.93515G>T (p.Arg31172Leu)
c.90857G>T (p.Arg30286Leu)
c.90776G>T (p.Arg30259Leu)
c.72539G>T (p.Arg24180Leu)
c.62393G>T (p.Arg20798Leu)
2g.178537563C=CA1310515520TTN,TTN-AS1c.91940G= (p.Arg30647=)
c.73025G= (p.Arg24342=)
c.72824G= (p.Arg24275=)
c.72449G= (p.Arg24150=)
c.99644G= (p.Arg33215=)
c.94721G= (p.Arg31574=)
n.446+13927C=
n.519C=
c.98741G= (p.Arg32914=)
c.72635G= (p.Arg24212=)
c.72494G= (p.Arg24165=)
c.98537G= (p.Arg32846=)
c.93935G= (p.Arg31312=)
c.93932G= (p.Arg31311=)
c.90974G= (p.Arg30325=)
c.72590G= (p.Arg24197=)
c.94085G= (p.Arg31362=)
c.94082G= (p.Arg31361=)
c.93515G= (p.Arg31172=)
c.90857G= (p.Arg30286=)
c.90776G= (p.Arg30259=)
c.72539G= (p.Arg24180=)
c.62393G= (p.Arg20798=)
2g.178537563C>GCA349427774TTN,TTN-AS1c.91940G>C (p.Arg30647Pro)
c.73025G>C (p.Arg24342Pro)
c.72824G>C (p.Arg24275Pro)
c.72449G>C (p.Arg24150Pro)
c.99644G>C (p.Arg33215Pro)
c.94721G>C (p.Arg31574Pro)
n.446+13927C>G
n.519C>G
c.98741G>C (p.Arg32914Pro)
c.72635G>C (p.Arg24212Pro)
c.72494G>C (p.Arg24165Pro)
c.98537G>C (p.Arg32846Pro)
c.93935G>C (p.Arg31312Pro)
c.93932G>C (p.Arg31311Pro)
c.90974G>C (p.Arg30325Pro)
c.72590G>C (p.Arg24197Pro)
c.94085G>C (p.Arg31362Pro)
c.94082G>C (p.Arg31361Pro)
c.93515G>C (p.Arg31172Pro)
c.90857G>C (p.Arg30286Pro)
c.90776G>C (p.Arg30259Pro)
c.72539G>C (p.Arg24180Pro)
c.62393G>C (p.Arg20798Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.178537563C>TCA1986160TTN,TTN-AS1c.91940G>A (p.Arg30647Gln)
c.73025G>A (p.Arg24342Gln)
c.72824G>A (p.Arg24275Gln)
c.72449G>A (p.Arg24150Gln)
c.99644G>A (p.Arg33215Gln)
c.94721G>A (p.Arg31574Gln)
n.446+13927C>T
n.519C>T
c.98741G>A (p.Arg32914Gln)
c.72635G>A (p.Arg24212Gln)
c.72494G>A (p.Arg24165Gln)
c.98537G>A (p.Arg32846Gln)
c.93935G>A (p.Arg31312Gln)
c.93932G>A (p.Arg31311Gln)
c.90974G>A (p.Arg30325Gln)
c.72590G>A (p.Arg24197Gln)
c.94085G>A (p.Arg31362Gln)
c.94082G>A (p.Arg31361Gln)
c.93515G>A (p.Arg31172Gln)
c.90857G>A (p.Arg30286Gln)
c.90776G>A (p.Arg30259Gln)
c.72539G>A (p.Arg24180Gln)
c.62393G>A (p.Arg20798Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178537564G>ACA1986161TTN,TTN-AS1c.91939C>T (p.Arg30647Trp)
c.73024C>T (p.Arg24342Trp)
c.72823C>T (p.Arg24275Trp)
c.72448C>T (p.Arg24150Trp)
c.99643C>T (p.Arg33215Trp)
c.94720C>T (p.Arg31574Trp)
n.446+13928G>A
n.520G>A
c.98740C>T (p.Arg32914Trp)
c.72634C>T (p.Arg24212Trp)
c.72493C>T (p.Arg24165Trp)
c.98536C>T (p.Arg32846Trp)
c.93934C>T (p.Arg31312Trp)
c.93931C>T (p.Arg31311Trp)
c.90973C>T (p.Arg30325Trp)
c.72589C>T (p.Arg24197Trp)
c.94084C>T (p.Arg31362Trp)
c.94081C>T (p.Arg31361Trp)
c.93514C>T (p.Arg31172Trp)
c.90856C>T (p.Arg30286Trp)
c.90775C>T (p.Arg30259Trp)
c.72538C>T (p.Arg24180Trp)
c.62392C>T (p.Arg20798Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178537564G>CCA349427775TTN,TTN-AS1c.91939C>G (p.Arg30647Gly)
c.73024C>G (p.Arg24342Gly)
c.72823C>G (p.Arg24275Gly)
c.72448C>G (p.Arg24150Gly)
c.99643C>G (p.Arg33215Gly)
c.94720C>G (p.Arg31574Gly)
n.446+13928G>C
n.520G>C
c.98740C>G (p.Arg32914Gly)
c.72634C>G (p.Arg24212Gly)
c.72493C>G (p.Arg24165Gly)
c.98536C>G (p.Arg32846Gly)
c.93934C>G (p.Arg31312Gly)
c.93931C>G (p.Arg31311Gly)
c.90973C>G (p.Arg30325Gly)
c.72589C>G (p.Arg24197Gly)
c.94084C>G (p.Arg31362Gly)
c.94081C>G (p.Arg31361Gly)
c.93514C>G (p.Arg31172Gly)
c.90856C>G (p.Arg30286Gly)
c.90775C>G (p.Arg30259Gly)
c.72538C>G (p.Arg24180Gly)
c.62392C>G (p.Arg20798Gly)
2g.178537564G=CA1310515522TTN,TTN-AS1c.91939C= (p.Arg30647=)
c.73024C= (p.Arg24342=)
c.72823C= (p.Arg24275=)
c.72448C= (p.Arg24150=)
c.99643C= (p.Arg33215=)
c.94720C= (p.Arg31574=)
n.446+13928G=
n.520G=
c.98740C= (p.Arg32914=)
c.72634C= (p.Arg24212=)
c.72493C= (p.Arg24165=)
c.98536C= (p.Arg32846=)
c.93934C= (p.Arg31312=)
c.93931C= (p.Arg31311=)
c.90973C= (p.Arg30325=)
c.72589C= (p.Arg24197=)
c.94084C= (p.Arg31362=)
c.94081C= (p.Arg31361=)
c.93514C= (p.Arg31172=)
c.90856C= (p.Arg30286=)
c.90775C= (p.Arg30259=)
c.72538C= (p.Arg24180=)
c.62392C= (p.Arg20798=)
2g.178537564G>TCA1986162TTN,TTN-AS1c.91939C>A (p.Arg30647=)
c.73024C>A (p.Arg24342=)
c.72823C>A (p.Arg24275=)
c.72448C>A (p.Arg24150=)
c.99643C>A (p.Arg33215=)
c.94720C>A (p.Arg31574=)
n.446+13928G>T
n.520G>T
c.98740C>A (p.Arg32914=)
c.72634C>A (p.Arg24212=)
c.72493C>A (p.Arg24165=)
c.98536C>A (p.Arg32846=)
c.93934C>A (p.Arg31312=)
c.93931C>A (p.Arg31311=)
c.90973C>A (p.Arg30325=)
c.72589C>A (p.Arg24197=)
c.94084C>A (p.Arg31362=)
c.94081C>A (p.Arg31361=)
c.93514C>A (p.Arg31172=)
c.90856C>A (p.Arg30286=)
c.90775C>A (p.Arg30259=)
c.72538C>A (p.Arg24180=)
c.62392C>A (p.Arg20798=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178537565A>CCA430239293TTN,TTN-AS1c.91938T>G (p.Leu30646=)
c.73023T>G (p.Leu24341=)
c.72822T>G (p.Leu24274=)
c.72447T>G (p.Leu24149=)
c.99642T>G (p.Leu33214=)
c.94719T>G (p.Leu31573=)
n.446+13929A>C
n.521A>C
c.98739T>G (p.Leu32913=)
c.72633T>G (p.Leu24211=)
c.72492T>G (p.Leu24164=)
c.98535T>G (p.Leu32845=)
c.93933T>G (p.Leu31311=)
c.93930T>G (p.Leu31310=)
c.90972T>G (p.Leu30324=)
c.72588T>G (p.Leu24196=)
c.94083T>G (p.Leu31361=)
c.94080T>G (p.Leu31360=)
c.93513T>G (p.Leu31171=)
c.90855T>G (p.Leu30285=)
c.90774T>G (p.Leu30258=)
c.72537T>G (p.Leu24179=)
c.62391T>G (p.Leu20797=)
2g.178537565A>GCA430239294TTN,TTN-AS1c.91938T>C (p.Leu30646=)
c.73023T>C (p.Leu24341=)
c.72822T>C (p.Leu24274=)
c.72447T>C (p.Leu24149=)
c.99642T>C (p.Leu33214=)
c.94719T>C (p.Leu31573=)
n.446+13929A>G
n.521A>G
c.98739T>C (p.Leu32913=)
c.72633T>C (p.Leu24211=)
c.72492T>C (p.Leu24164=)
c.98535T>C (p.Leu32845=)
c.93933T>C (p.Leu31311=)
c.93930T>C (p.Leu31310=)
c.90972T>C (p.Leu30324=)
c.72588T>C (p.Leu24196=)
c.94083T>C (p.Leu31361=)
c.94080T>C (p.Leu31360=)
c.93513T>C (p.Leu31171=)
c.90855T>C (p.Leu30285=)
c.90774T>C (p.Leu30258=)
c.72537T>C (p.Leu24179=)
c.62391T>C (p.Leu20797=)
2g.178537565A>TCA430239295TTN,TTN-AS1c.91938T>A (p.Leu30646=)
c.73023T>A (p.Leu24341=)
c.72822T>A (p.Leu24274=)
c.72447T>A (p.Leu24149=)
c.99642T>A (p.Leu33214=)
c.94719T>A (p.Leu31573=)
n.446+13929A>T
n.521A>T
c.98739T>A (p.Leu32913=)
c.72633T>A (p.Leu24211=)
c.72492T>A (p.Leu24164=)
c.98535T>A (p.Leu32845=)
c.93933T>A (p.Leu31311=)
c.93930T>A (p.Leu31310=)
c.90972T>A (p.Leu30324=)
c.72588T>A (p.Leu24196=)
c.94083T>A (p.Leu31361=)
c.94080T>A (p.Leu31360=)
c.93513T>A (p.Leu31171=)
c.90855T>A (p.Leu30285=)
c.90774T>A (p.Leu30258=)
c.72537T>A (p.Leu24179=)
c.62391T>A (p.Leu20797=)
2g.178537566A>CCA349427776TTN,TTN-AS1c.91937T>G (p.Leu30646Arg)
c.73022T>G (p.Leu24341Arg)
c.72821T>G (p.Leu24274Arg)
c.72446T>G (p.Leu24149Arg)
c.99641T>G (p.Leu33214Arg)
c.94718T>G (p.Leu31573Arg)
n.446+13930A>C
n.522A>C
c.98738T>G (p.Leu32913Arg)
c.72632T>G (p.Leu24211Arg)
c.72491T>G (p.Leu24164Arg)
c.98534T>G (p.Leu32845Arg)
c.93932T>G (p.Leu31311Arg)
c.93929T>G (p.Leu31310Arg)
c.90971T>G (p.Leu30324Arg)
c.72587T>G (p.Leu24196Arg)
c.94082T>G (p.Leu31361Arg)
c.94079T>G (p.Leu31360Arg)
c.93512T>G (p.Leu31171Arg)
c.90854T>G (p.Leu30285Arg)
c.90773T>G (p.Leu30258Arg)
c.72536T>G (p.Leu24179Arg)
c.62390T>G (p.Leu20797Arg)
2g.178537566A>GCA349427777TTN,TTN-AS1c.91937T>C (p.Leu30646Pro)
c.73022T>C (p.Leu24341Pro)
c.72821T>C (p.Leu24274Pro)
c.72446T>C (p.Leu24149Pro)
c.99641T>C (p.Leu33214Pro)
c.94718T>C (p.Leu31573Pro)
n.446+13930A>G
n.522A>G
c.98738T>C (p.Leu32913Pro)
c.72632T>C (p.Leu24211Pro)
c.72491T>C (p.Leu24164Pro)
c.98534T>C (p.Leu32845Pro)
c.93932T>C (p.Leu31311Pro)
c.93929T>C (p.Leu31310Pro)
c.90971T>C (p.Leu30324Pro)
c.72587T>C (p.Leu24196Pro)
c.94082T>C (p.Leu31361Pro)
c.94079T>C (p.Leu31360Pro)
c.93512T>C (p.Leu31171Pro)
c.90854T>C (p.Leu30285Pro)
c.90773T>C (p.Leu30258Pro)
c.72536T>C (p.Leu24179Pro)
c.62390T>C (p.Leu20797Pro)
2g.178537566A>TCA349427778TTN,TTN-AS1c.91937T>A (p.Leu30646His)
c.73022T>A (p.Leu24341His)
c.72821T>A (p.Leu24274His)
c.72446T>A (p.Leu24149His)
c.99641T>A (p.Leu33214His)
c.94718T>A (p.Leu31573His)
n.446+13930A>T
n.522A>T
c.98738T>A (p.Leu32913His)
c.72632T>A (p.Leu24211His)
c.72491T>A (p.Leu24164His)
c.98534T>A (p.Leu32845His)
c.93932T>A (p.Leu31311His)
c.93929T>A (p.Leu31310His)
c.90971T>A (p.Leu30324His)
c.72587T>A (p.Leu24196His)
c.94082T>A (p.Leu31361His)
c.94079T>A (p.Leu31360His)
c.93512T>A (p.Leu31171His)
c.90854T>A (p.Leu30285His)
c.90773T>A (p.Leu30258His)
c.72536T>A (p.Leu24179His)
c.62390T>A (p.Leu20797His)
2g.178537567G>ACA349427779TTN,TTN-AS1c.91936C>T (p.Leu30646Phe)
c.73021C>T (p.Leu24341Phe)
c.72820C>T (p.Leu24274Phe)
c.72445C>T (p.Leu24149Phe)
c.99640C>T (p.Leu33214Phe)
c.94717C>T (p.Leu31573Phe)
n.446+13931G>A
n.523G>A
c.98737C>T (p.Leu32913Phe)
c.72631C>T (p.Leu24211Phe)
c.72490C>T (p.Leu24164Phe)
c.98533C>T (p.Leu32845Phe)
c.93931C>T (p.Leu31311Phe)
c.93928C>T (p.Leu31310Phe)
c.90970C>T (p.Leu30324Phe)
c.72586C>T (p.Leu24196Phe)
c.94081C>T (p.Leu31361Phe)
c.94078C>T (p.Leu31360Phe)
c.93511C>T (p.Leu31171Phe)
c.90853C>T (p.Leu30285Phe)
c.90772C>T (p.Leu30258Phe)
c.72535C>T (p.Leu24179Phe)
c.62389C>T (p.Leu20797Phe)
2g.178537567G>CCA349427780TTN,TTN-AS1c.91936C>G (p.Leu30646Val)
c.73021C>G (p.Leu24341Val)
c.72820C>G (p.Leu24274Val)
c.72445C>G (p.Leu24149Val)
c.99640C>G (p.Leu33214Val)
c.94717C>G (p.Leu31573Val)
n.446+13931G>C
n.523G>C
c.98737C>G (p.Leu32913Val)
c.72631C>G (p.Leu24211Val)
c.72490C>G (p.Leu24164Val)
c.98533C>G (p.Leu32845Val)
c.93931C>G (p.Leu31311Val)
c.93928C>G (p.Leu31310Val)
c.90970C>G (p.Leu30324Val)
c.72586C>G (p.Leu24196Val)
c.94081C>G (p.Leu31361Val)
c.94078C>G (p.Leu31360Val)
c.93511C>G (p.Leu31171Val)
c.90853C>G (p.Leu30285Val)
c.90772C>G (p.Leu30258Val)
c.72535C>G (p.Leu24179Val)
c.62389C>G (p.Leu20797Val)
2g.178537567G>TCA349427781TTN,TTN-AS1c.91936C>A (p.Leu30646Ile)
c.73021C>A (p.Leu24341Ile)
c.72820C>A (p.Leu24274Ile)
c.72445C>A (p.Leu24149Ile)
c.99640C>A (p.Leu33214Ile)
c.94717C>A (p.Leu31573Ile)
n.446+13931G>T
n.523G>T
c.98737C>A (p.Leu32913Ile)
c.72631C>A (p.Leu24211Ile)
c.72490C>A (p.Leu24164Ile)
c.98533C>A (p.Leu32845Ile)
c.93931C>A (p.Leu31311Ile)
c.93928C>A (p.Leu31310Ile)
c.90970C>A (p.Leu30324Ile)
c.72586C>A (p.Leu24196Ile)
c.94081C>A (p.Leu31361Ile)
c.94078C>A (p.Leu31360Ile)
c.93511C>A (p.Leu31171Ile)
c.90853C>A (p.Leu30285Ile)
c.90772C>A (p.Leu30258Ile)
c.72535C>A (p.Leu24179Ile)
c.62389C>A (p.Leu20797Ile)
2g.178537568T>ACA430239307TTN,TTN-AS1c.91935A>T (p.Thr30645=)
c.73020A>T (p.Thr24340=)
c.72819A>T (p.Thr24273=)
c.72444A>T (p.Thr24148=)
c.99639A>T (p.Thr33213=)
c.94716A>T (p.Thr31572=)
n.446+13932T>A
n.524T>A
c.98736A>T (p.Thr32912=)
c.72630A>T (p.Thr24210=)
c.72489A>T (p.Thr24163=)
c.98532A>T (p.Thr32844=)
c.93930A>T (p.Thr31310=)
c.93927A>T (p.Thr31309=)
c.90969A>T (p.Thr30323=)
c.72585A>T (p.Thr24195=)
c.94080A>T (p.Thr31360=)
c.94077A>T (p.Thr31359=)
c.93510A>T (p.Thr31170=)
c.90852A>T (p.Thr30284=)
c.90771A>T (p.Thr30257=)
c.72534A>T (p.Thr24178=)
c.62388A>T (p.Thr20796=)
2g.178537568T>CCA430239309TTN,TTN-AS1c.91935A>G (p.Thr30645=)
c.73020A>G (p.Thr24340=)
c.72819A>G (p.Thr24273=)
c.72444A>G (p.Thr24148=)
c.99639A>G (p.Thr33213=)
c.94716A>G (p.Thr31572=)
n.446+13932T>C
n.524T>C
c.98736A>G (p.Thr32912=)
c.72630A>G (p.Thr24210=)
c.72489A>G (p.Thr24163=)
c.98532A>G (p.Thr32844=)
c.93930A>G (p.Thr31310=)
c.93927A>G (p.Thr31309=)
c.90969A>G (p.Thr30323=)
c.72585A>G (p.Thr24195=)
c.94080A>G (p.Thr31360=)
c.94077A>G (p.Thr31359=)
c.93510A>G (p.Thr31170=)
c.90852A>G (p.Thr30284=)
c.90771A>G (p.Thr30257=)
c.72534A>G (p.Thr24178=)
c.62388A>G (p.Thr20796=)
 ClinVar dbSNP gnomAD v4
2g.178537568T>GCA1986163TTN,TTN-AS1c.91935A>C (p.Thr30645=)
c.73020A>C (p.Thr24340=)
c.72819A>C (p.Thr24273=)
c.72444A>C (p.Thr24148=)
c.99639A>C (p.Thr33213=)
c.94716A>C (p.Thr31572=)
n.446+13932T>G
n.524T>G
c.98736A>C (p.Thr32912=)
c.72630A>C (p.Thr24210=)
c.72489A>C (p.Thr24163=)
c.98532A>C (p.Thr32844=)
c.93930A>C (p.Thr31310=)
c.93927A>C (p.Thr31309=)
c.90969A>C (p.Thr30323=)
c.72585A>C (p.Thr24195=)
c.94080A>C (p.Thr31360=)
c.94077A>C (p.Thr31359=)
c.93510A>C (p.Thr31170=)
c.90852A>C (p.Thr30284=)
c.90771A>C (p.Thr30257=)
c.72534A>C (p.Thr24178=)
c.62388A>C (p.Thr20796=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178537568T=CA1310515524TTN,TTN-AS1c.91935A= (p.Thr30645=)
c.73020A= (p.Thr24340=)
c.72819A= (p.Thr24273=)
c.72444A= (p.Thr24148=)
c.99639A= (p.Thr33213=)
c.94716A= (p.Thr31572=)
n.446+13932T=
n.524T=
c.98736A= (p.Thr32912=)
c.72630A= (p.Thr24210=)
c.72489A= (p.Thr24163=)
c.98532A= (p.Thr32844=)
c.93930A= (p.Thr31310=)
c.93927A= (p.Thr31309=)
c.90969A= (p.Thr30323=)
c.72585A= (p.Thr24195=)
c.94080A= (p.Thr31360=)
c.94077A= (p.Thr31359=)
c.93510A= (p.Thr31170=)
c.90852A= (p.Thr30284=)
c.90771A= (p.Thr30257=)
c.72534A= (p.Thr24178=)
c.62388A= (p.Thr20796=)
2g.178537569G>ACA349427782TTN,TTN-AS1c.91934C>T (p.Thr30645Ile)
c.73019C>T (p.Thr24340Ile)
c.72818C>T (p.Thr24273Ile)
c.72443C>T (p.Thr24148Ile)
c.99638C>T (p.Thr33213Ile)
c.94715C>T (p.Thr31572Ile)
n.446+13933G>A
n.525G>A
c.98735C>T (p.Thr32912Ile)
c.72629C>T (p.Thr24210Ile)
c.72488C>T (p.Thr24163Ile)
c.98531C>T (p.Thr32844Ile)
c.93929C>T (p.Thr31310Ile)
c.93926C>T (p.Thr31309Ile)
c.90968C>T (p.Thr30323Ile)
c.72584C>T (p.Thr24195Ile)
c.94079C>T (p.Thr31360Ile)
c.94076C>T (p.Thr31359Ile)
c.93509C>T (p.Thr31170Ile)
c.90851C>T (p.Thr30284Ile)
c.90770C>T (p.Thr30257Ile)
c.72533C>T (p.Thr24178Ile)
c.62387C>T (p.Thr20796Ile)
 gnomAD v4
2g.178537569G>CCA349427783TTN,TTN-AS1c.91934C>G (p.Thr30645Arg)
c.73019C>G (p.Thr24340Arg)
c.72818C>G (p.Thr24273Arg)
c.72443C>G (p.Thr24148Arg)
c.99638C>G (p.Thr33213Arg)
c.94715C>G (p.Thr31572Arg)
n.446+13933G>C
n.525G>C
c.98735C>G (p.Thr32912Arg)
c.72629C>G (p.Thr24210Arg)
c.72488C>G (p.Thr24163Arg)
c.98531C>G (p.Thr32844Arg)
c.93929C>G (p.Thr31310Arg)
c.93926C>G (p.Thr31309Arg)
c.90968C>G (p.Thr30323Arg)
c.72584C>G (p.Thr24195Arg)
c.94079C>G (p.Thr31360Arg)
c.94076C>G (p.Thr31359Arg)
c.93509C>G (p.Thr31170Arg)
c.90851C>G (p.Thr30284Arg)
c.90770C>G (p.Thr30257Arg)
c.72533C>G (p.Thr24178Arg)
c.62387C>G (p.Thr20796Arg)
2g.178537569G>TCA349427784TTN,TTN-AS1c.91934C>A (p.Thr30645Lys)
c.73019C>A (p.Thr24340Lys)
c.72818C>A (p.Thr24273Lys)
c.72443C>A (p.Thr24148Lys)
c.99638C>A (p.Thr33213Lys)
c.94715C>A (p.Thr31572Lys)
n.446+13933G>T
n.525G>T
c.98735C>A (p.Thr32912Lys)
c.72629C>A (p.Thr24210Lys)
c.72488C>A (p.Thr24163Lys)
c.98531C>A (p.Thr32844Lys)
c.93929C>A (p.Thr31310Lys)
c.93926C>A (p.Thr31309Lys)
c.90968C>A (p.Thr30323Lys)
c.72584C>A (p.Thr24195Lys)
c.94079C>A (p.Thr31360Lys)
c.94076C>A (p.Thr31359Lys)
c.93509C>A (p.Thr31170Lys)
c.90851C>A (p.Thr30284Lys)
c.90770C>A (p.Thr30257Lys)
c.72533C>A (p.Thr24178Lys)
c.62387C>A (p.Thr20796Lys)
2g.178537570T>ACA349427785TTN,TTN-AS1c.91933A>T (p.Thr30645Ser)
c.73018A>T (p.Thr24340Ser)
c.72817A>T (p.Thr24273Ser)
c.72442A>T (p.Thr24148Ser)
c.99637A>T (p.Thr33213Ser)
c.94714A>T (p.Thr31572Ser)
n.446+13934T>A
n.526T>A
c.98734A>T (p.Thr32912Ser)
c.72628A>T (p.Thr24210Ser)
c.72487A>T (p.Thr24163Ser)
c.98530A>T (p.Thr32844Ser)
c.93928A>T (p.Thr31310Ser)
c.93925A>T (p.Thr31309Ser)
c.90967A>T (p.Thr30323Ser)
c.72583A>T (p.Thr24195Ser)
c.94078A>T (p.Thr31360Ser)
c.94075A>T (p.Thr31359Ser)
c.93508A>T (p.Thr31170Ser)
c.90850A>T (p.Thr30284Ser)
c.90769A>T (p.Thr30257Ser)
c.72532A>T (p.Thr24178Ser)
c.62386A>T (p.Thr20796Ser)
2g.178537570T>CCA349427786TTN,TTN-AS1c.91933A>G (p.Thr30645Ala)
c.73018A>G (p.Thr24340Ala)
c.72817A>G (p.Thr24273Ala)
c.72442A>G (p.Thr24148Ala)
c.99637A>G (p.Thr33213Ala)
c.94714A>G (p.Thr31572Ala)
n.446+13934T>C
n.526T>C
c.98734A>G (p.Thr32912Ala)
c.72628A>G (p.Thr24210Ala)
c.72487A>G (p.Thr24163Ala)
c.98530A>G (p.Thr32844Ala)
c.93928A>G (p.Thr31310Ala)
c.93925A>G (p.Thr31309Ala)
c.90967A>G (p.Thr30323Ala)
c.72583A>G (p.Thr24195Ala)
c.94078A>G (p.Thr31360Ala)
c.94075A>G (p.Thr31359Ala)
c.93508A>G (p.Thr31170Ala)
c.90850A>G (p.Thr30284Ala)
c.90769A>G (p.Thr30257Ala)
c.72532A>G (p.Thr24178Ala)
c.62386A>G (p.Thr20796Ala)
2g.178537570T>GCA349427787TTN,TTN-AS1c.91933A>C (p.Thr30645Pro)
c.73018A>C (p.Thr24340Pro)
c.72817A>C (p.Thr24273Pro)
c.72442A>C (p.Thr24148Pro)
c.99637A>C (p.Thr33213Pro)
c.94714A>C (p.Thr31572Pro)
n.446+13934T>G
n.526T>G
c.98734A>C (p.Thr32912Pro)
c.72628A>C (p.Thr24210Pro)
c.72487A>C (p.Thr24163Pro)
c.98530A>C (p.Thr32844Pro)
c.93928A>C (p.Thr31310Pro)
c.93925A>C (p.Thr31309Pro)
c.90967A>C (p.Thr30323Pro)
c.72583A>C (p.Thr24195Pro)
c.94078A>C (p.Thr31360Pro)
c.94075A>C (p.Thr31359Pro)
c.93508A>C (p.Thr31170Pro)
c.90850A>C (p.Thr30284Pro)
c.90769A>C (p.Thr30257Pro)
c.72532A>C (p.Thr24178Pro)
c.62386A>C (p.Thr20796Pro)
2g.178537571G>ACA430239322TTN,TTN-AS1c.91932C>T (p.Ser30644=)
c.73017C>T (p.Ser24339=)
c.72816C>T (p.Ser24272=)
c.72441C>T (p.Ser24147=)
c.99636C>T (p.Ser33212=)
c.94713C>T (p.Ser31571=)
n.446+13935G>A
n.527G>A
c.98733C>T (p.Ser32911=)
c.72627C>T (p.Ser24209=)
c.72486C>T (p.Ser24162=)
c.98529C>T (p.Ser32843=)
c.93927C>T (p.Ser31309=)
c.93924C>T (p.Ser31308=)
c.90966C>T (p.Ser30322=)
c.72582C>T (p.Ser24194=)
c.94077C>T (p.Ser31359=)
c.94074C>T (p.Ser31358=)
c.93507C>T (p.Ser31169=)
c.90849C>T (p.Ser30283=)
c.90768C>T (p.Ser30256=)
c.72531C>T (p.Ser24177=)
c.62385C>T (p.Ser20795=)
 ClinVar
2g.178537571G>CCA430239323TTN,TTN-AS1c.91932C>G (p.Ser30644=)
c.73017C>G (p.Ser24339=)
c.72816C>G (p.Ser24272=)
c.72441C>G (p.Ser24147=)
c.99636C>G (p.Ser33212=)
c.94713C>G (p.Ser31571=)
n.446+13935G>C
n.527G>C
c.98733C>G (p.Ser32911=)
c.72627C>G (p.Ser24209=)
c.72486C>G (p.Ser24162=)
c.98529C>G (p.Ser32843=)
c.93927C>G (p.Ser31309=)
c.93924C>G (p.Ser31308=)
c.90966C>G (p.Ser30322=)
c.72582C>G (p.Ser24194=)
c.94077C>G (p.Ser31359=)
c.94074C>G (p.Ser31358=)
c.93507C>G (p.Ser31169=)
c.90849C>G (p.Ser30283=)
c.90768C>G (p.Ser30256=)
c.72531C>G (p.Ser24177=)
c.62385C>G (p.Ser20795=)
 ClinVar dbSNP
2g.178537571G=CA1310515525TTN,TTN-AS1c.91932C= (p.Ser30644=)
c.73017C= (p.Ser24339=)
c.72816C= (p.Ser24272=)
c.72441C= (p.Ser24147=)
c.99636C= (p.Ser33212=)
c.94713C= (p.Ser31571=)
n.446+13935G=
n.527G=
c.98733C= (p.Ser32911=)
c.72627C= (p.Ser24209=)
c.72486C= (p.Ser24162=)
c.98529C= (p.Ser32843=)
c.93927C= (p.Ser31309=)
c.93924C= (p.Ser31308=)
c.90966C= (p.Ser30322=)
c.72582C= (p.Ser24194=)
c.94077C= (p.Ser31359=)
c.94074C= (p.Ser31358=)
c.93507C= (p.Ser31169=)
c.90849C= (p.Ser30283=)
c.90768C= (p.Ser30256=)
c.72531C= (p.Ser24177=)
c.62385C= (p.Ser20795=)
2g.178537571G>TCA430239329TTN,TTN-AS1c.91932C>A (p.Ser30644=)
c.73017C>A (p.Ser24339=)
c.72816C>A (p.Ser24272=)
c.72441C>A (p.Ser24147=)
c.99636C>A (p.Ser33212=)
c.94713C>A (p.Ser31571=)
n.446+13935G>T
n.527G>T
c.98733C>A (p.Ser32911=)
c.72627C>A (p.Ser24209=)
c.72486C>A (p.Ser24162=)
c.98529C>A (p.Ser32843=)
c.93927C>A (p.Ser31309=)
c.93924C>A (p.Ser31308=)
c.90966C>A (p.Ser30322=)
c.72582C>A (p.Ser24194=)
c.94077C>A (p.Ser31359=)
c.94074C>A (p.Ser31358=)
c.93507C>A (p.Ser31169=)
c.90849C>A (p.Ser30283=)
c.90768C>A (p.Ser30256=)
c.72531C>A (p.Ser24177=)
c.62385C>A (p.Ser20795=)
2g.178537572G>ACA349427788TTN,TTN-AS1c.91931C>T (p.Ser30644Phe)
c.73016C>T (p.Ser24339Phe)
c.72815C>T (p.Ser24272Phe)
c.72440C>T (p.Ser24147Phe)
c.99635C>T (p.Ser33212Phe)
c.94712C>T (p.Ser31571Phe)
n.446+13936G>A
n.528G>A
c.98732C>T (p.Ser32911Phe)
c.72626C>T (p.Ser24209Phe)
c.72485C>T (p.Ser24162Phe)
c.98528C>T (p.Ser32843Phe)
c.93926C>T (p.Ser31309Phe)
c.93923C>T (p.Ser31308Phe)
c.90965C>T (p.Ser30322Phe)
c.72581C>T (p.Ser24194Phe)
c.94076C>T (p.Ser31359Phe)
c.94073C>T (p.Ser31358Phe)
c.93506C>T (p.Ser31169Phe)
c.90848C>T (p.Ser30283Phe)
c.90767C>T (p.Ser30256Phe)
c.72530C>T (p.Ser24177Phe)
c.62384C>T (p.Ser20795Phe)
2g.178537572G>CCA349427790TTN,TTN-AS1c.91931C>G (p.Ser30644Cys)
c.73016C>G (p.Ser24339Cys)
c.72815C>G (p.Ser24272Cys)
c.72440C>G (p.Ser24147Cys)
c.99635C>G (p.Ser33212Cys)
c.94712C>G (p.Ser31571Cys)
n.446+13936G>C
n.528G>C
c.98732C>G (p.Ser32911Cys)
c.72626C>G (p.Ser24209Cys)
c.72485C>G (p.Ser24162Cys)
c.98528C>G (p.Ser32843Cys)
c.93926C>G (p.Ser31309Cys)
c.93923C>G (p.Ser31308Cys)
c.90965C>G (p.Ser30322Cys)
c.72581C>G (p.Ser24194Cys)
c.94076C>G (p.Ser31359Cys)
c.94073C>G (p.Ser31358Cys)
c.93506C>G (p.Ser31169Cys)
c.90848C>G (p.Ser30283Cys)
c.90767C>G (p.Ser30256Cys)
c.72530C>G (p.Ser24177Cys)
c.62384C>G (p.Ser20795Cys)
 gnomAD v4
2g.178537572G>TCA349427789TTN,TTN-AS1c.91931C>A (p.Ser30644Tyr)
c.73016C>A (p.Ser24339Tyr)
c.72815C>A (p.Ser24272Tyr)
c.72440C>A (p.Ser24147Tyr)
c.99635C>A (p.Ser33212Tyr)
c.94712C>A (p.Ser31571Tyr)
n.446+13936G>T
n.528G>T
c.98732C>A (p.Ser32911Tyr)
c.72626C>A (p.Ser24209Tyr)
c.72485C>A (p.Ser24162Tyr)
c.98528C>A (p.Ser32843Tyr)
c.93926C>A (p.Ser31309Tyr)
c.93923C>A (p.Ser31308Tyr)
c.90965C>A (p.Ser30322Tyr)
c.72581C>A (p.Ser24194Tyr)
c.94076C>A (p.Ser31359Tyr)
c.94073C>A (p.Ser31358Tyr)
c.93506C>A (p.Ser31169Tyr)
c.90848C>A (p.Ser30283Tyr)
c.90767C>A (p.Ser30256Tyr)
c.72530C>A (p.Ser24177Tyr)
c.62384C>A (p.Ser20795Tyr)
2g.178537573A=CA1310515527TTN,TTN-AS1c.91930T= (p.Ser30644=)
c.73015T= (p.Ser24339=)
c.72814T= (p.Ser24272=)
c.72439T= (p.Ser24147=)
c.99634T= (p.Ser33212=)
c.94711T= (p.Ser31571=)
n.446+13937A=
n.529A=
c.98731T= (p.Ser32911=)
c.72625T= (p.Ser24209=)
c.72484T= (p.Ser24162=)
c.98527T= (p.Ser32843=)
c.93925T= (p.Ser31309=)
c.93922T= (p.Ser31308=)
c.90964T= (p.Ser30322=)
c.72580T= (p.Ser24194=)
c.94075T= (p.Ser31359=)
c.94072T= (p.Ser31358=)
c.93505T= (p.Ser31169=)
c.90847T= (p.Ser30283=)
c.90766T= (p.Ser30256=)
c.72529T= (p.Ser24177=)
c.62383T= (p.Ser20795=)
2g.178537573A>CCA349427791TTN,TTN-AS1c.91930T>G (p.Ser30644Ala)
c.73015T>G (p.Ser24339Ala)
c.72814T>G (p.Ser24272Ala)
c.72439T>G (p.Ser24147Ala)
c.99634T>G (p.Ser33212Ala)
c.94711T>G (p.Ser31571Ala)
n.446+13937A>C
n.529A>C
c.98731T>G (p.Ser32911Ala)
c.72625T>G (p.Ser24209Ala)
c.72484T>G (p.Ser24162Ala)
c.98527T>G (p.Ser32843Ala)
c.93925T>G (p.Ser31309Ala)
c.93922T>G (p.Ser31308Ala)
c.90964T>G (p.Ser30322Ala)
c.72580T>G (p.Ser24194Ala)
c.94075T>G (p.Ser31359Ala)
c.94072T>G (p.Ser31358Ala)
c.93505T>G (p.Ser31169Ala)
c.90847T>G (p.Ser30283Ala)
c.90766T>G (p.Ser30256Ala)
c.72529T>G (p.Ser24177Ala)
c.62383T>G (p.Ser20795Ala)
2g.178537573A>GCA349427792TTN,TTN-AS1c.91930T>C (p.Ser30644Pro)
c.73015T>C (p.Ser24339Pro)
c.72814T>C (p.Ser24272Pro)
c.72439T>C (p.Ser24147Pro)
c.99634T>C (p.Ser33212Pro)
c.94711T>C (p.Ser31571Pro)
n.446+13937A>G
n.529A>G
c.98731T>C (p.Ser32911Pro)
c.72625T>C (p.Ser24209Pro)
c.72484T>C (p.Ser24162Pro)
c.98527T>C (p.Ser32843Pro)
c.93925T>C (p.Ser31309Pro)
c.93922T>C (p.Ser31308Pro)
c.90964T>C (p.Ser30322Pro)
c.72580T>C (p.Ser24194Pro)
c.94075T>C (p.Ser31359Pro)
c.94072T>C (p.Ser31358Pro)
c.93505T>C (p.Ser31169Pro)
c.90847T>C (p.Ser30283Pro)
c.90766T>C (p.Ser30256Pro)
c.72529T>C (p.Ser24177Pro)
c.62383T>C (p.Ser20795Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.178537573A>TCA349427793TTN,TTN-AS1c.91930T>A (p.Ser30644Thr)
c.73015T>A (p.Ser24339Thr)
c.72814T>A (p.Ser24272Thr)
c.72439T>A (p.Ser24147Thr)
c.99634T>A (p.Ser33212Thr)
c.94711T>A (p.Ser31571Thr)
n.446+13937A>T
n.529A>T
c.98731T>A (p.Ser32911Thr)
c.72625T>A (p.Ser24209Thr)
c.72484T>A (p.Ser24162Thr)
c.98527T>A (p.Ser32843Thr)
c.93925T>A (p.Ser31309Thr)
c.93922T>A (p.Ser31308Thr)
c.90964T>A (p.Ser30322Thr)
c.72580T>A (p.Ser24194Thr)
c.94075T>A (p.Ser31359Thr)
c.94072T>A (p.Ser31358Thr)
c.93505T>A (p.Ser31169Thr)
c.90847T>A (p.Ser30283Thr)
c.90766T>A (p.Ser30256Thr)
c.72529T>A (p.Ser24177Thr)
c.62383T>A (p.Ser20795Thr)
2g.178537574A=CA1310515528TTN,TTN-AS1c.91929T= (p.Gly30643=)
c.73014T= (p.Gly24338=)
c.72813T= (p.Gly24271=)
c.72438T= (p.Gly24146=)
c.99633T= (p.Gly33211=)
c.94710T= (p.Gly31570=)
n.446+13938A=
n.530A=
c.98730T= (p.Gly32910=)
c.72624T= (p.Gly24208=)
c.72483T= (p.Gly24161=)
c.98526T= (p.Gly32842=)
c.93924T= (p.Gly31308=)
c.93921T= (p.Gly31307=)
c.90963T= (p.Gly30321=)
c.72579T= (p.Gly24193=)
c.94074T= (p.Gly31358=)
c.94071T= (p.Gly31357=)
c.93504T= (p.Gly31168=)
c.90846T= (p.Gly30282=)
c.90765T= (p.Gly30255=)
c.72528T= (p.Gly24176=)
c.62382T= (p.Gly20794=)
2g.178537574A>CCA430239348TTN,TTN-AS1c.91929T>G (p.Gly30643=)
c.73014T>G (p.Gly24338=)
c.72813T>G (p.Gly24271=)
c.72438T>G (p.Gly24146=)
c.99633T>G (p.Gly33211=)
c.94710T>G (p.Gly31570=)
n.446+13938A>C
n.530A>C
c.98730T>G (p.Gly32910=)
c.72624T>G (p.Gly24208=)
c.72483T>G (p.Gly24161=)
c.98526T>G (p.Gly32842=)
c.93924T>G (p.Gly31308=)
c.93921T>G (p.Gly31307=)
c.90963T>G (p.Gly30321=)
c.72579T>G (p.Gly24193=)
c.94074T>G (p.Gly31358=)
c.94071T>G (p.Gly31357=)
c.93504T>G (p.Gly31168=)
c.90846T>G (p.Gly30282=)
c.90765T>G (p.Gly30255=)
c.72528T>G (p.Gly24176=)
c.62382T>G (p.Gly20794=)
2g.178537574A>GCA430239356TTN,TTN-AS1c.91929T>C (p.Gly30643=)
c.73014T>C (p.Gly24338=)
c.72813T>C (p.Gly24271=)
c.72438T>C (p.Gly24146=)
c.99633T>C (p.Gly33211=)
c.94710T>C (p.Gly31570=)
n.446+13938A>G
n.530A>G
c.98730T>C (p.Gly32910=)
c.72624T>C (p.Gly24208=)
c.72483T>C (p.Gly24161=)
c.98526T>C (p.Gly32842=)
c.93924T>C (p.Gly31308=)
c.93921T>C (p.Gly31307=)
c.90963T>C (p.Gly30321=)
c.72579T>C (p.Gly24193=)
c.94074T>C (p.Gly31358=)
c.94071T>C (p.Gly31357=)
c.93504T>C (p.Gly31168=)
c.90846T>C (p.Gly30282=)
c.90765T>C (p.Gly30255=)
c.72528T>C (p.Gly24176=)
c.62382T>C (p.Gly20794=)
2g.178537574A>TCA1986164TTN,TTN-AS1c.91929T>A (p.Gly30643=)
c.73014T>A (p.Gly24338=)
c.72813T>A (p.Gly24271=)
c.72438T>A (p.Gly24146=)
c.99633T>A (p.Gly33211=)
c.94710T>A (p.Gly31570=)
n.446+13938A>T
n.530A>T
c.98730T>A (p.Gly32910=)
c.72624T>A (p.Gly24208=)
c.72483T>A (p.Gly24161=)
c.98526T>A (p.Gly32842=)
c.93924T>A (p.Gly31308=)
c.93921T>A (p.Gly31307=)
c.90963T>A (p.Gly30321=)
c.72579T>A (p.Gly24193=)
c.94074T>A (p.Gly31358=)
c.94071T>A (p.Gly31357=)
c.93504T>A (p.Gly31168=)
c.90846T>A (p.Gly30282=)
c.90765T>A (p.Gly30255=)
c.72528T>A (p.Gly24176=)
c.62382T>A (p.Gly20794=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178537575C>ACA349427794TTN,TTN-AS1c.91928G>T (p.Gly30643Val)
c.73013G>T (p.Gly24338Val)
c.72812G>T (p.Gly24271Val)
c.72437G>T (p.Gly24146Val)
c.99632G>T (p.Gly33211Val)
c.94709G>T (p.Gly31570Val)
n.446+13939C>A
n.531C>A
c.98729G>T (p.Gly32910Val)
c.72623G>T (p.Gly24208Val)
c.72482G>T (p.Gly24161Val)
c.98525G>T (p.Gly32842Val)
c.93923G>T (p.Gly31308Val)
c.93920G>T (p.Gly31307Val)
c.90962G>T (p.Gly30321Val)
c.72578G>T (p.Gly24193Val)
c.94073G>T (p.Gly31358Val)
c.94070G>T (p.Gly31357Val)
c.93503G>T (p.Gly31168Val)
c.90845G>T (p.Gly30282Val)
c.90764G>T (p.Gly30255Val)
c.72527G>T (p.Gly24176Val)
c.62381G>T (p.Gly20794Val)
2g.178537575C>GCA349427795TTN,TTN-AS1c.91928G>C (p.Gly30643Ala)
c.73013G>C (p.Gly24338Ala)
c.72812G>C (p.Gly24271Ala)
c.72437G>C (p.Gly24146Ala)
c.99632G>C (p.Gly33211Ala)
c.94709G>C (p.Gly31570Ala)
n.446+13939C>G
n.531C>G
c.98729G>C (p.Gly32910Ala)
c.72623G>C (p.Gly24208Ala)
c.72482G>C (p.Gly24161Ala)
c.98525G>C (p.Gly32842Ala)
c.93923G>C (p.Gly31308Ala)
c.93920G>C (p.Gly31307Ala)
c.90962G>C (p.Gly30321Ala)
c.72578G>C (p.Gly24193Ala)
c.94073G>C (p.Gly31358Ala)
c.94070G>C (p.Gly31357Ala)
c.93503G>C (p.Gly31168Ala)
c.90845G>C (p.Gly30282Ala)
c.90764G>C (p.Gly30255Ala)
c.72527G>C (p.Gly24176Ala)
c.62381G>C (p.Gly20794Ala)
2g.178537575C>TCA349427796TTN,TTN-AS1c.91928G>A (p.Gly30643Asp)
c.73013G>A (p.Gly24338Asp)
c.72812G>A (p.Gly24271Asp)
c.72437G>A (p.Gly24146Asp)
c.99632G>A (p.Gly33211Asp)
c.94709G>A (p.Gly31570Asp)
n.446+13939C>T
n.531C>T
c.98729G>A (p.Gly32910Asp)
c.72623G>A (p.Gly24208Asp)
c.72482G>A (p.Gly24161Asp)
c.98525G>A (p.Gly32842Asp)
c.93923G>A (p.Gly31308Asp)
c.93920G>A (p.Gly31307Asp)
c.90962G>A (p.Gly30321Asp)
c.72578G>A (p.Gly24193Asp)
c.94073G>A (p.Gly31358Asp)
c.94070G>A (p.Gly31357Asp)
c.93503G>A (p.Gly31168Asp)
c.90845G>A (p.Gly30282Asp)
c.90764G>A (p.Gly30255Asp)
c.72527G>A (p.Gly24176Asp)
c.62381G>A (p.Gly20794Asp)
 gnomAD v4
2g.178537576C>ACA349427797TTN,TTN-AS1c.91927G>T (p.Gly30643Cys)
c.73012G>T (p.Gly24338Cys)
c.72811G>T (p.Gly24271Cys)
c.72436G>T (p.Gly24146Cys)
c.99631G>T (p.Gly33211Cys)
c.94708G>T (p.Gly31570Cys)
n.446+13940C>A
n.532C>A
c.98728G>T (p.Gly32910Cys)
c.72622G>T (p.Gly24208Cys)
c.72481G>T (p.Gly24161Cys)
c.98524G>T (p.Gly32842Cys)
c.93922G>T (p.Gly31308Cys)
c.93919G>T (p.Gly31307Cys)
c.90961G>T (p.Gly30321Cys)
c.72577G>T (p.Gly24193Cys)
c.94072G>T (p.Gly31358Cys)
c.94069G>T (p.Gly31357Cys)
c.93502G>T (p.Gly31168Cys)
c.90844G>T (p.Gly30282Cys)
c.90763G>T (p.Gly30255Cys)
c.72526G>T (p.Gly24176Cys)
c.62380G>T (p.Gly20794Cys)
2g.178537576C=CA1310515530TTN,TTN-AS1c.91927G= (p.Gly30643=)
c.73012G= (p.Gly24338=)
c.72811G= (p.Gly24271=)
c.72436G= (p.Gly24146=)
c.99631G= (p.Gly33211=)
c.94708G= (p.Gly31570=)
n.446+13940C=
n.532C=
c.98728G= (p.Gly32910=)
c.72622G= (p.Gly24208=)
c.72481G= (p.Gly24161=)
c.98524G= (p.Gly32842=)
c.93922G= (p.Gly31308=)
c.93919G= (p.Gly31307=)
c.90961G= (p.Gly30321=)
c.72577G= (p.Gly24193=)
c.94072G= (p.Gly31358=)
c.94069G= (p.Gly31357=)
c.93502G= (p.Gly31168=)
c.90844G= (p.Gly30282=)
c.90763G= (p.Gly30255=)
c.72526G= (p.Gly24176=)
c.62380G= (p.Gly20794=)
2g.178537576C>GCA349427798TTN,TTN-AS1c.91927G>C (p.Gly30643Arg)
c.73012G>C (p.Gly24338Arg)
c.72811G>C (p.Gly24271Arg)
c.72436G>C (p.Gly24146Arg)
c.99631G>C (p.Gly33211Arg)
c.94708G>C (p.Gly31570Arg)
n.446+13940C>G
n.532C>G
c.98728G>C (p.Gly32910Arg)
c.72622G>C (p.Gly24208Arg)
c.72481G>C (p.Gly24161Arg)
c.98524G>C (p.Gly32842Arg)
c.93922G>C (p.Gly31308Arg)
c.93919G>C (p.Gly31307Arg)
c.90961G>C (p.Gly30321Arg)
c.72577G>C (p.Gly24193Arg)
c.94072G>C (p.Gly31358Arg)
c.94069G>C (p.Gly31357Arg)
c.93502G>C (p.Gly31168Arg)
c.90844G>C (p.Gly30282Arg)
c.90763G>C (p.Gly30255Arg)
c.72526G>C (p.Gly24176Arg)
c.62380G>C (p.Gly20794Arg)
 gnomAD v4
2g.178537576C>TCA349427799TTN,TTN-AS1c.91927G>A (p.Gly30643Ser)
c.73012G>A (p.Gly24338Ser)
c.72811G>A (p.Gly24271Ser)
c.72436G>A (p.Gly24146Ser)
c.99631G>A (p.Gly33211Ser)
c.94708G>A (p.Gly31570Ser)
n.446+13940C>T
n.532C>T
c.98728G>A (p.Gly32910Ser)
c.72622G>A (p.Gly24208Ser)
c.72481G>A (p.Gly24161Ser)
c.98524G>A (p.Gly32842Ser)
c.93922G>A (p.Gly31308Ser)
c.93919G>A (p.Gly31307Ser)
c.90961G>A (p.Gly30321Ser)
c.72577G>A (p.Gly24193Ser)
c.94072G>A (p.Gly31358Ser)
c.94069G>A (p.Gly31357Ser)
c.93502G>A (p.Gly31168Ser)
c.90844G>A (p.Gly30282Ser)
c.90763G>A (p.Gly30255Ser)
c.72526G>A (p.Gly24176Ser)
c.62380G>A (p.Gly20794Ser)
 ClinVar dbSNP gnomAD v4
2g.178537577C>ACA430239371TTN,TTN-AS1c.91926G>T (p.Val30642=)
c.73011G>T (p.Val24337=)
c.72810G>T (p.Val24270=)
c.72435G>T (p.Val24145=)
c.99630G>T (p.Val33210=)
c.94707G>T (p.Val31569=)
n.446+13941C>A
n.533C>A
c.98727G>T (p.Val32909=)
c.72621G>T (p.Val24207=)
c.72480G>T (p.Val24160=)
c.98523G>T (p.Val32841=)
c.93921G>T (p.Val31307=)
c.93918G>T (p.Val31306=)
c.90960G>T (p.Val30320=)
c.72576G>T (p.Val24192=)
c.94071G>T (p.Val31357=)
c.94068G>T (p.Val31356=)
c.93501G>T (p.Val31167=)
c.90843G>T (p.Val30281=)
c.90762G>T (p.Val30254=)
c.72525G>T (p.Val24175=)
c.62379G>T (p.Val20793=)
2g.178537577C>GCA430239370TTN,TTN-AS1c.91926G>C (p.Val30642=)
c.73011G>C (p.Val24337=)
c.72810G>C (p.Val24270=)
c.72435G>C (p.Val24145=)
c.99630G>C (p.Val33210=)
c.94707G>C (p.Val31569=)
n.446+13941C>G
n.533C>G
c.98727G>C (p.Val32909=)
c.72621G>C (p.Val24207=)
c.72480G>C (p.Val24160=)
c.98523G>C (p.Val32841=)
c.93921G>C (p.Val31307=)
c.93918G>C (p.Val31306=)
c.90960G>C (p.Val30320=)
c.72576G>C (p.Val24192=)
c.94071G>C (p.Val31357=)
c.94068G>C (p.Val31356=)
c.93501G>C (p.Val31167=)
c.90843G>C (p.Val30281=)
c.90762G>C (p.Val30254=)
c.72525G>C (p.Val24175=)
c.62379G>C (p.Val20793=)
2g.178537577C>TCA430239367TTN,TTN-AS1c.91926G>A (p.Val30642=)
c.73011G>A (p.Val24337=)
c.72810G>A (p.Val24270=)
c.72435G>A (p.Val24145=)
c.99630G>A (p.Val33210=)
c.94707G>A (p.Val31569=)
n.446+13941C>T
n.533C>T
c.98727G>A (p.Val32909=)
c.72621G>A (p.Val24207=)
c.72480G>A (p.Val24160=)
c.98523G>A (p.Val32841=)
c.93921G>A (p.Val31307=)
c.93918G>A (p.Val31306=)
c.90960G>A (p.Val30320=)
c.72576G>A (p.Val24192=)
c.94071G>A (p.Val31357=)
c.94068G>A (p.Val31356=)
c.93501G>A (p.Val31167=)
c.90843G>A (p.Val30281=)
c.90762G>A (p.Val30254=)
c.72525G>A (p.Val24175=)
c.62379G>A (p.Val20793=)
 gnomAD v4
2g.178537578A=CA1310515532TTN,TTN-AS1c.91925T= (p.Val30642=)
c.73010T= (p.Val24337=)
c.72809T= (p.Val24270=)
c.72434T= (p.Val24145=)
c.99629T= (p.Val33210=)
c.94706T= (p.Val31569=)
n.446+13942A=
n.534A=
c.98726T= (p.Val32909=)
c.72620T= (p.Val24207=)
c.72479T= (p.Val24160=)
c.98522T= (p.Val32841=)
c.93920T= (p.Val31307=)
c.93917T= (p.Val31306=)
c.90959T= (p.Val30320=)
c.72575T= (p.Val24192=)
c.94070T= (p.Val31357=)
c.94067T= (p.Val31356=)
c.93500T= (p.Val31167=)
c.90842T= (p.Val30281=)
c.90761T= (p.Val30254=)
c.72524T= (p.Val24175=)
c.62378T= (p.Val20793=)
2g.178537578A>CCA349427800TTN,TTN-AS1c.91925T>G (p.Val30642Gly)
c.73010T>G (p.Val24337Gly)
c.72809T>G (p.Val24270Gly)
c.72434T>G (p.Val24145Gly)
c.99629T>G (p.Val33210Gly)
c.94706T>G (p.Val31569Gly)
n.446+13942A>C
n.534A>C
c.98726T>G (p.Val32909Gly)
c.72620T>G (p.Val24207Gly)
c.72479T>G (p.Val24160Gly)
c.98522T>G (p.Val32841Gly)
c.93920T>G (p.Val31307Gly)
c.93917T>G (p.Val31306Gly)
c.90959T>G (p.Val30320Gly)
c.72575T>G (p.Val24192Gly)
c.94070T>G (p.Val31357Gly)
c.94067T>G (p.Val31356Gly)
c.93500T>G (p.Val31167Gly)
c.90842T>G (p.Val30281Gly)
c.90761T>G (p.Val30254Gly)
c.72524T>G (p.Val24175Gly)
c.62378T>G (p.Val20793Gly)
 dbSNP gnomAD v2
2g.178537578A>GCA349427801TTN,TTN-AS1c.91925T>C (p.Val30642Ala)
c.73010T>C (p.Val24337Ala)
c.72809T>C (p.Val24270Ala)
c.72434T>C (p.Val24145Ala)
c.99629T>C (p.Val33210Ala)
c.94706T>C (p.Val31569Ala)
n.446+13942A>G
n.534A>G
c.98726T>C (p.Val32909Ala)
c.72620T>C (p.Val24207Ala)
c.72479T>C (p.Val24160Ala)
c.98522T>C (p.Val32841Ala)
c.93920T>C (p.Val31307Ala)
c.93917T>C (p.Val31306Ala)
c.90959T>C (p.Val30320Ala)
c.72575T>C (p.Val24192Ala)
c.94070T>C (p.Val31357Ala)
c.94067T>C (p.Val31356Ala)
c.93500T>C (p.Val31167Ala)
c.90842T>C (p.Val30281Ala)
c.90761T>C (p.Val30254Ala)
c.72524T>C (p.Val24175Ala)
c.62378T>C (p.Val20793Ala)
2g.178537578A>TCA349427802TTN,TTN-AS1c.91925T>A (p.Val30642Glu)
c.73010T>A (p.Val24337Glu)
c.72809T>A (p.Val24270Glu)
c.72434T>A (p.Val24145Glu)
c.99629T>A (p.Val33210Glu)
c.94706T>A (p.Val31569Glu)
n.446+13942A>T
n.534A>T
c.98726T>A (p.Val32909Glu)
c.72620T>A (p.Val24207Glu)
c.72479T>A (p.Val24160Glu)
c.98522T>A (p.Val32841Glu)
c.93920T>A (p.Val31307Glu)
c.93917T>A (p.Val31306Glu)
c.90959T>A (p.Val30320Glu)
c.72575T>A (p.Val24192Glu)
c.94070T>A (p.Val31357Glu)
c.94067T>A (p.Val31356Glu)
c.93500T>A (p.Val31167Glu)
c.90842T>A (p.Val30281Glu)
c.90761T>A (p.Val30254Glu)
c.72524T>A (p.Val24175Glu)
c.62378T>A (p.Val20793Glu)
2g.178537579C>ACA349427805TTN,TTN-AS1c.91924G>T (p.Val30642Leu)
c.73009G>T (p.Val24337Leu)
c.72808G>T (p.Val24270Leu)
c.72433G>T (p.Val24145Leu)
c.99628G>T (p.Val33210Leu)
c.94705G>T (p.Val31569Leu)
n.446+13943C>A
n.535C>A
c.98725G>T (p.Val32909Leu)
c.72619G>T (p.Val24207Leu)
c.72478G>T (p.Val24160Leu)
c.98521G>T (p.Val32841Leu)
c.93919G>T (p.Val31307Leu)
c.93916G>T (p.Val31306Leu)
c.90958G>T (p.Val30320Leu)
c.72574G>T (p.Val24192Leu)
c.94069G>T (p.Val31357Leu)
c.94066G>T (p.Val31356Leu)
c.93499G>T (p.Val31167Leu)
c.90841G>T (p.Val30281Leu)
c.90760G>T (p.Val30254Leu)
c.72523G>T (p.Val24175Leu)
c.62377G>T (p.Val20793Leu)
2g.178537579C>GCA349427803TTN,TTN-AS1c.91924G>C (p.Val30642Leu)
c.73009G>C (p.Val24337Leu)
c.72808G>C (p.Val24270Leu)
c.72433G>C (p.Val24145Leu)
c.99628G>C (p.Val33210Leu)
c.94705G>C (p.Val31569Leu)
n.446+13943C>G
n.535C>G
c.98725G>C (p.Val32909Leu)
c.72619G>C (p.Val24207Leu)
c.72478G>C (p.Val24160Leu)
c.98521G>C (p.Val32841Leu)
c.93919G>C (p.Val31307Leu)
c.93916G>C (p.Val31306Leu)
c.90958G>C (p.Val30320Leu)
c.72574G>C (p.Val24192Leu)
c.94069G>C (p.Val31357Leu)
c.94066G>C (p.Val31356Leu)
c.93499G>C (p.Val31167Leu)
c.90841G>C (p.Val30281Leu)
c.90760G>C (p.Val30254Leu)
c.72523G>C (p.Val24175Leu)
c.62377G>C (p.Val20793Leu)
2g.178537579C>TCA349427804TTN,TTN-AS1c.91924G>A (p.Val30642Met)
c.73009G>A (p.Val24337Met)
c.72808G>A (p.Val24270Met)
c.72433G>A (p.Val24145Met)
c.99628G>A (p.Val33210Met)
c.94705G>A (p.Val31569Met)
n.446+13943C>T
n.535C>T
c.98725G>A (p.Val32909Met)
c.72619G>A (p.Val24207Met)
c.72478G>A (p.Val24160Met)
c.98521G>A (p.Val32841Met)
c.93919G>A (p.Val31307Met)
c.93916G>A (p.Val31306Met)
c.90958G>A (p.Val30320Met)
c.72574G>A (p.Val24192Met)
c.94069G>A (p.Val31357Met)
c.94066G>A (p.Val31356Met)
c.93499G>A (p.Val31167Met)
c.90841G>A (p.Val30281Met)
c.90760G>A (p.Val30254Met)
c.72523G>A (p.Val24175Met)
c.62377G>A (p.Val20793Met)
 ClinVar gnomAD v4
2g.178537580A>CCA430239388TTN,TTN-AS1c.91923T>G (p.Ala30641=)
c.73008T>G (p.Ala24336=)
c.72807T>G (p.Ala24269=)
c.72432T>G (p.Ala24144=)
c.99627T>G (p.Ala33209=)
c.94704T>G (p.Ala31568=)
n.446+13944A>C
n.536A>C
c.98724T>G (p.Ala32908=)
c.72618T>G (p.Ala24206=)
c.72477T>G (p.Ala24159=)
c.98520T>G (p.Ala32840=)
c.93918T>G (p.Ala31306=)
c.93915T>G (p.Ala31305=)
c.90957T>G (p.Ala30319=)
c.72573T>G (p.Ala24191=)
c.94068T>G (p.Ala31356=)
c.94065T>G (p.Ala31355=)
c.93498T>G (p.Ala31166=)
c.90840T>G (p.Ala30280=)
c.90759T>G (p.Ala30253=)
c.72522T>G (p.Ala24174=)
c.62376T>G (p.Ala20792=)
2g.178537580A>GCA430239393TTN,TTN-AS1c.91923T>C (p.Ala30641=)
c.73008T>C (p.Ala24336=)
c.72807T>C (p.Ala24269=)
c.72432T>C (p.Ala24144=)
c.99627T>C (p.Ala33209=)
c.94704T>C (p.Ala31568=)
n.446+13944A>G
n.536A>G
c.98724T>C (p.Ala32908=)
c.72618T>C (p.Ala24206=)
c.72477T>C (p.Ala24159=)
c.98520T>C (p.Ala32840=)
c.93918T>C (p.Ala31306=)
c.93915T>C (p.Ala31305=)
c.90957T>C (p.Ala30319=)
c.72573T>C (p.Ala24191=)
c.94068T>C (p.Ala31356=)
c.94065T>C (p.Ala31355=)
c.93498T>C (p.Ala31166=)
c.90840T>C (p.Ala30280=)
c.90759T>C (p.Ala30253=)
c.72522T>C (p.Ala24174=)
c.62376T>C (p.Ala20792=)
 ClinVar gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178537580A>TCA430239391TTN,TTN-AS1c.91923T>A (p.Ala30641=)
c.73008T>A (p.Ala24336=)
c.72807T>A (p.Ala24269=)
c.72432T>A (p.Ala24144=)
c.99627T>A (p.Ala33209=)
c.94704T>A (p.Ala31568=)
n.446+13944A>T
n.536A>T
c.98724T>A (p.Ala32908=)
c.72618T>A (p.Ala24206=)
c.72477T>A (p.Ala24159=)
c.98520T>A (p.Ala32840=)
c.93918T>A (p.Ala31306=)
c.93915T>A (p.Ala31305=)
c.90957T>A (p.Ala30319=)
c.72573T>A (p.Ala24191=)
c.94068T>A (p.Ala31356=)
c.94065T>A (p.Ala31355=)
c.93498T>A (p.Ala31166=)
c.90840T>A (p.Ala30280=)
c.90759T>A (p.Ala30253=)
c.72522T>A (p.Ala24174=)
c.62376T>A (p.Ala20792=)
2g.178537581G>ACA349427806TTN,TTN-AS1c.91922C>T (p.Ala30641Val)
c.73007C>T (p.Ala24336Val)
c.72806C>T (p.Ala24269Val)
c.72431C>T (p.Ala24144Val)
c.99626C>T (p.Ala33209Val)
c.94703C>T (p.Ala31568Val)
n.446+13945G>A
n.537G>A
c.98723C>T (p.Ala32908Val)
c.72617C>T (p.Ala24206Val)
c.72476C>T (p.Ala24159Val)
c.98519C>T (p.Ala32840Val)
c.93917C>T (p.Ala31306Val)
c.93914C>T (p.Ala31305Val)
c.90956C>T (p.Ala30319Val)
c.72572C>T (p.Ala24191Val)
c.94067C>T (p.Ala31356Val)
c.94064C>T (p.Ala31355Val)
c.93497C>T (p.Ala31166Val)
c.90839C>T (p.Ala30280Val)
c.90758C>T (p.Ala30253Val)
c.72521C>T (p.Ala24174Val)
c.62375C>T (p.Ala20792Val)
2g.178537581G>CCA349427807TTN,TTN-AS1c.91922C>G (p.Ala30641Gly)
c.73007C>G (p.Ala24336Gly)
c.72806C>G (p.Ala24269Gly)
c.72431C>G (p.Ala24144Gly)
c.99626C>G (p.Ala33209Gly)
c.94703C>G (p.Ala31568Gly)
n.446+13945G>C
n.537G>C
c.98723C>G (p.Ala32908Gly)
c.72617C>G (p.Ala24206Gly)
c.72476C>G (p.Ala24159Gly)
c.98519C>G (p.Ala32840Gly)
c.93917C>G (p.Ala31306Gly)
c.93914C>G (p.Ala31305Gly)
c.90956C>G (p.Ala30319Gly)
c.72572C>G (p.Ala24191Gly)
c.94067C>G (p.Ala31356Gly)
c.94064C>G (p.Ala31355Gly)
c.93497C>G (p.Ala31166Gly)
c.90839C>G (p.Ala30280Gly)
c.90758C>G (p.Ala30253Gly)
c.72521C>G (p.Ala24174Gly)
c.62375C>G (p.Ala20792Gly)
2g.178537581G>TCA349427808TTN,TTN-AS1c.91922C>A (p.Ala30641Asp)
c.73007C>A (p.Ala24336Asp)
c.72806C>A (p.Ala24269Asp)
c.72431C>A (p.Ala24144Asp)
c.99626C>A (p.Ala33209Asp)
c.94703C>A (p.Ala31568Asp)
n.446+13945G>T
n.537G>T
c.98723C>A (p.Ala32908Asp)
c.72617C>A (p.Ala24206Asp)
c.72476C>A (p.Ala24159Asp)
c.98519C>A (p.Ala32840Asp)
c.93917C>A (p.Ala31306Asp)
c.93914C>A (p.Ala31305Asp)
c.90956C>A (p.Ala30319Asp)
c.72572C>A (p.Ala24191Asp)
c.94067C>A (p.Ala31356Asp)
c.94064C>A (p.Ala31355Asp)
c.93497C>A (p.Ala31166Asp)
c.90839C>A (p.Ala30280Asp)
c.90758C>A (p.Ala30253Asp)
c.72521C>A (p.Ala24174Asp)
c.62375C>A (p.Ala20792Asp)
 gnomAD v4
2g.178537582C>ACA349427809TTN,TTN-AS1c.91921G>T (p.Ala30641Ser)
c.73006G>T (p.Ala24336Ser)
c.72805G>T (p.Ala24269Ser)
c.72430G>T (p.Ala24144Ser)
c.99625G>T (p.Ala33209Ser)
c.94702G>T (p.Ala31568Ser)
n.446+13946C>A
n.538C>A
c.98722G>T (p.Ala32908Ser)
c.72616G>T (p.Ala24206Ser)
c.72475G>T (p.Ala24159Ser)
c.98518G>T (p.Ala32840Ser)
c.93916G>T (p.Ala31306Ser)
c.93913G>T (p.Ala31305Ser)
c.90955G>T (p.Ala30319Ser)
c.72571G>T (p.Ala24191Ser)
c.94066G>T (p.Ala31356Ser)
c.94063G>T (p.Ala31355Ser)
c.93496G>T (p.Ala31166Ser)
c.90838G>T (p.Ala30280Ser)
c.90757G>T (p.Ala30253Ser)
c.72520G>T (p.Ala24174Ser)
c.62374G>T (p.Ala20792Ser)
2g.178537582C=CA1310515533TTN,TTN-AS1c.91921G= (p.Ala30641=)
c.73006G= (p.Ala24336=)
c.72805G= (p.Ala24269=)
c.72430G= (p.Ala24144=)
c.99625G= (p.Ala33209=)
c.94702G= (p.Ala31568=)
n.446+13946C=
n.538C=
c.98722G= (p.Ala32908=)
c.72616G= (p.Ala24206=)
c.72475G= (p.Ala24159=)
c.98518G= (p.Ala32840=)
c.93916G= (p.Ala31306=)
c.93913G= (p.Ala31305=)
c.90955G= (p.Ala30319=)
c.72571G= (p.Ala24191=)
c.94066G= (p.Ala31356=)
c.94063G= (p.Ala31355=)
c.93496G= (p.Ala31166=)
c.90838G= (p.Ala30280=)
c.90757G= (p.Ala30253=)
c.72520G= (p.Ala24174=)
c.62374G= (p.Ala20792=)
2g.178537582C>GCA349427810TTN,TTN-AS1c.91921G>C (p.Ala30641Pro)
c.73006G>C (p.Ala24336Pro)
c.72805G>C (p.Ala24269Pro)
c.72430G>C (p.Ala24144Pro)
c.99625G>C (p.Ala33209Pro)
c.94702G>C (p.Ala31568Pro)
n.446+13946C>G
n.538C>G
c.98722G>C (p.Ala32908Pro)
c.72616G>C (p.Ala24206Pro)
c.72475G>C (p.Ala24159Pro)
c.98518G>C (p.Ala32840Pro)
c.93916G>C (p.Ala31306Pro)
c.93913G>C (p.Ala31305Pro)
c.90955G>C (p.Ala30319Pro)
c.72571G>C (p.Ala24191Pro)
c.94066G>C (p.Ala31356Pro)
c.94063G>C (p.Ala31355Pro)
c.93496G>C (p.Ala31166Pro)
c.90838G>C (p.Ala30280Pro)
c.90757G>C (p.Ala30253Pro)
c.72520G>C (p.Ala24174Pro)
c.62374G>C (p.Ala20792Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.178537582C>TCA349427811TTN,TTN-AS1c.91921G>A (p.Ala30641Thr)
c.73006G>A (p.Ala24336Thr)
c.72805G>A (p.Ala24269Thr)
c.72430G>A (p.Ala24144Thr)
c.99625G>A (p.Ala33209Thr)
c.94702G>A (p.Ala31568Thr)
n.446+13946C>T
n.538C>T
c.98722G>A (p.Ala32908Thr)
c.72616G>A (p.Ala24206Thr)
c.72475G>A (p.Ala24159Thr)
c.98518G>A (p.Ala32840Thr)
c.93916G>A (p.Ala31306Thr)
c.93913G>A (p.Ala31305Thr)
c.90955G>A (p.Ala30319Thr)
c.72571G>A (p.Ala24191Thr)
c.94066G>A (p.Ala31356Thr)
c.94063G>A (p.Ala31355Thr)
c.93496G>A (p.Ala31166Thr)
c.90838G>A (p.Ala30280Thr)
c.90757G>A (p.Ala30253Thr)
c.72520G>A (p.Ala24174Thr)
c.62374G>A (p.Ala20792Thr)
2g.178537583T>ACA430239404TTN,TTN-AS1c.91920A>T (p.Gly30640=)
c.73005A>T (p.Gly24335=)
c.72804A>T (p.Gly24268=)
c.72429A>T (p.Gly24143=)
c.99624A>T (p.Gly33208=)
c.94701A>T (p.Gly31567=)
n.446+13947T>A
n.539T>A
c.98721A>T (p.Gly32907=)
c.72615A>T (p.Gly24205=)
c.72474A>T (p.Gly24158=)
c.98517A>T (p.Gly32839=)
c.93915A>T (p.Gly31305=)
c.93912A>T (p.Gly31304=)
c.90954A>T (p.Gly30318=)
c.72570A>T (p.Gly24190=)
c.94065A>T (p.Gly31355=)
c.94062A>T (p.Gly31354=)
c.93495A>T (p.Gly31165=)
c.90837A>T (p.Gly30279=)
c.90756A>T (p.Gly30252=)
c.72519A>T (p.Gly24173=)
c.62373A>T (p.Gly20791=)
2g.178537583T>CCA430239407TTN,TTN-AS1c.91920A>G (p.Gly30640=)
c.73005A>G (p.Gly24335=)
c.72804A>G (p.Gly24268=)
c.72429A>G (p.Gly24143=)
c.99624A>G (p.Gly33208=)
c.94701A>G (p.Gly31567=)
n.446+13947T>C
n.539T>C
c.98721A>G (p.Gly32907=)
c.72615A>G (p.Gly24205=)
c.72474A>G (p.Gly24158=)
c.98517A>G (p.Gly32839=)
c.93915A>G (p.Gly31305=)
c.93912A>G (p.Gly31304=)
c.90954A>G (p.Gly30318=)
c.72570A>G (p.Gly24190=)
c.94065A>G (p.Gly31355=)
c.94062A>G (p.Gly31354=)
c.93495A>G (p.Gly31165=)
c.90837A>G (p.Gly30279=)
c.90756A>G (p.Gly30252=)
c.72519A>G (p.Gly24173=)
c.62373A>G (p.Gly20791=)
2g.178537583T>GCA430239410TTN,TTN-AS1c.91920A>C (p.Gly30640=)
c.73005A>C (p.Gly24335=)
c.72804A>C (p.Gly24268=)
c.72429A>C (p.Gly24143=)
c.99624A>C (p.Gly33208=)
c.94701A>C (p.Gly31567=)
n.446+13947T>G
n.539T>G
c.98721A>C (p.Gly32907=)
c.72615A>C (p.Gly24205=)
c.72474A>C (p.Gly24158=)
c.98517A>C (p.Gly32839=)
c.93915A>C (p.Gly31305=)
c.93912A>C (p.Gly31304=)
c.90954A>C (p.Gly30318=)
c.72570A>C (p.Gly24190=)
c.94065A>C (p.Gly31355=)
c.94062A>C (p.Gly31354=)
c.93495A>C (p.Gly31165=)
c.90837A>C (p.Gly30279=)
c.90756A>C (p.Gly30252=)
c.72519A>C (p.Gly24173=)
c.62373A>C (p.Gly20791=)
2g.178537584C>ACA349427812TTN,TTN-AS1c.91919G>T (p.Gly30640Val)
c.73004G>T (p.Gly24335Val)
c.72803G>T (p.Gly24268Val)
c.72428G>T (p.Gly24143Val)
c.99623G>T (p.Gly33208Val)
c.94700G>T (p.Gly31567Val)
n.446+13948C>A
n.540C>A
c.98720G>T (p.Gly32907Val)
c.72614G>T (p.Gly24205Val)
c.72473G>T (p.Gly24158Val)
c.98516G>T (p.Gly32839Val)
c.93914G>T (p.Gly31305Val)
c.93911G>T (p.Gly31304Val)
c.90953G>T (p.Gly30318Val)
c.72569G>T (p.Gly24190Val)
c.94064G>T (p.Gly31355Val)
c.94061G>T (p.Gly31354Val)
c.93494G>T (p.Gly31165Val)
c.90836G>T (p.Gly30279Val)
c.90755G>T (p.Gly30252Val)
c.72518G>T (p.Gly24173Val)
c.62372G>T (p.Gly20791Val)
2g.178537584C=CA1310515535TTN,TTN-AS1c.91919G= (p.Gly30640=)
c.73004G= (p.Gly24335=)
c.72803G= (p.Gly24268=)
c.72428G= (p.Gly24143=)
c.99623G= (p.Gly33208=)
c.94700G= (p.Gly31567=)
n.446+13948C=
n.540C=
c.98720G= (p.Gly32907=)
c.72614G= (p.Gly24205=)
c.72473G= (p.Gly24158=)
c.98516G= (p.Gly32839=)
c.93914G= (p.Gly31305=)
c.93911G= (p.Gly31304=)
c.90953G= (p.Gly30318=)
c.72569G= (p.Gly24190=)
c.94064G= (p.Gly31355=)
c.94061G= (p.Gly31354=)
c.93494G= (p.Gly31165=)
c.90836G= (p.Gly30279=)
c.90755G= (p.Gly30252=)
c.72518G= (p.Gly24173=)
c.62372G= (p.Gly20791=)
2g.178537584C>GCA349427813TTN,TTN-AS1c.91919G>C (p.Gly30640Ala)
c.73004G>C (p.Gly24335Ala)
c.72803G>C (p.Gly24268Ala)
c.72428G>C (p.Gly24143Ala)
c.99623G>C (p.Gly33208Ala)
c.94700G>C (p.Gly31567Ala)
n.446+13948C>G
n.540C>G
c.98720G>C (p.Gly32907Ala)
c.72614G>C (p.Gly24205Ala)
c.72473G>C (p.Gly24158Ala)
c.98516G>C (p.Gly32839Ala)
c.93914G>C (p.Gly31305Ala)
c.93911G>C (p.Gly31304Ala)
c.90953G>C (p.Gly30318Ala)
c.72569G>C (p.Gly24190Ala)
c.94064G>C (p.Gly31355Ala)
c.94061G>C (p.Gly31354Ala)
c.93494G>C (p.Gly31165Ala)
c.90836G>C (p.Gly30279Ala)
c.90755G>C (p.Gly30252Ala)
c.72518G>C (p.Gly24173Ala)
c.62372G>C (p.Gly20791Ala)
2g.178537584C>TCA60961671TTN,TTN-AS1c.91919G>A (p.Gly30640Glu)
c.73004G>A (p.Gly24335Glu)
c.72803G>A (p.Gly24268Glu)
c.72428G>A (p.Gly24143Glu)
c.99623G>A (p.Gly33208Glu)
c.94700G>A (p.Gly31567Glu)
n.446+13948C>T
n.540C>T
c.98720G>A (p.Gly32907Glu)
c.72614G>A (p.Gly24205Glu)
c.72473G>A (p.Gly24158Glu)
c.98516G>A (p.Gly32839Glu)
c.93914G>A (p.Gly31305Glu)
c.93911G>A (p.Gly31304Glu)
c.90953G>A (p.Gly30318Glu)
c.72569G>A (p.Gly24190Glu)
c.94064G>A (p.Gly31355Glu)
c.94061G>A (p.Gly31354Glu)
c.93494G>A (p.Gly31165Glu)
c.90836G>A (p.Gly30279Glu)
c.90755G>A (p.Gly30252Glu)
c.72518G>A (p.Gly24173Glu)
c.62372G>A (p.Gly20791Glu)
 dbSNP
2g.178537585C>ACA349427814TTN,TTN-AS1c.91918G>T (p.Gly30640Ter)
c.73003G>T (p.Gly24335Ter)
c.72802G>T (p.Gly24268Ter)
c.72427G>T (p.Gly24143Ter)
c.99622G>T (p.Gly33208Ter)
c.94699G>T (p.Gly31567Ter)
n.446+13949C>A
n.541C>A
c.98719G>T (p.Gly32907Ter)
c.72613G>T (p.Gly24205Ter)
c.72472G>T (p.Gly24158Ter)
c.98515G>T (p.Gly32839Ter)
c.93913G>T (p.Gly31305Ter)
c.93910G>T (p.Gly31304Ter)
c.90952G>T (p.Gly30318Ter)
c.72568G>T (p.Gly24190Ter)
c.94063G>T (p.Gly31355Ter)
c.94060G>T (p.Gly31354Ter)
c.93493G>T (p.Gly31165Ter)
c.90835G>T (p.Gly30279Ter)
c.90754G>T (p.Gly30252Ter)
c.72517G>T (p.Gly24173Ter)
c.62371G>T (p.Gly20791Ter)
2g.178537585C>GCA349427815TTN,TTN-AS1c.91918G>C (p.Gly30640Arg)
c.73003G>C (p.Gly24335Arg)
c.72802G>C (p.Gly24268Arg)
c.72427G>C (p.Gly24143Arg)
c.99622G>C (p.Gly33208Arg)
c.94699G>C (p.Gly31567Arg)
n.446+13949C>G
n.541C>G
c.98719G>C (p.Gly32907Arg)
c.72613G>C (p.Gly24205Arg)
c.72472G>C (p.Gly24158Arg)
c.98515G>C (p.Gly32839Arg)
c.93913G>C (p.Gly31305Arg)
c.93910G>C (p.Gly31304Arg)
c.90952G>C (p.Gly30318Arg)
c.72568G>C (p.Gly24190Arg)
c.94063G>C (p.Gly31355Arg)
c.94060G>C (p.Gly31354Arg)
c.93493G>C (p.Gly31165Arg)
c.90835G>C (p.Gly30279Arg)
c.90754G>C (p.Gly30252Arg)
c.72517G>C (p.Gly24173Arg)
c.62371G>C (p.Gly20791Arg)
2g.178537585C>TCA349427816TTN,TTN-AS1c.91918G>A (p.Gly30640Arg)
c.73003G>A (p.Gly24335Arg)
c.72802G>A (p.Gly24268Arg)
c.72427G>A (p.Gly24143Arg)
c.99622G>A (p.Gly33208Arg)
c.94699G>A (p.Gly31567Arg)
n.446+13949C>T
n.541C>T
c.98719G>A (p.Gly32907Arg)
c.72613G>A (p.Gly24205Arg)
c.72472G>A (p.Gly24158Arg)
c.98515G>A (p.Gly32839Arg)
c.93913G>A (p.Gly31305Arg)
c.93910G>A (p.Gly31304Arg)
c.90952G>A (p.Gly30318Arg)
c.72568G>A (p.Gly24190Arg)
c.94063G>A (p.Gly31355Arg)
c.94060G>A (p.Gly31354Arg)
c.93493G>A (p.Gly31165Arg)
c.90835G>A (p.Gly30279Arg)
c.90754G>A (p.Gly30252Arg)
c.72517G>A (p.Gly24173Arg)
c.62371G>A (p.Gly20791Arg)
 gnomAD v4
2g.178537586A=CA1310515536TTN,TTN-AS1c.91917T= (p.Tyr30639=)
c.73002T= (p.Tyr24334=)
c.72801T= (p.Tyr24267=)
c.72426T= (p.Tyr24142=)
c.99621T= (p.Tyr33207=)
c.94698T= (p.Tyr31566=)
n.446+13950A=
n.542A=
c.98718T= (p.Tyr32906=)
c.72612T= (p.Tyr24204=)
c.72471T= (p.Tyr24157=)
c.98514T= (p.Tyr32838=)
c.93912T= (p.Tyr31304=)
c.93909T= (p.Tyr31303=)
c.90951T= (p.Tyr30317=)
c.72567T= (p.Tyr24189=)
c.94062T= (p.Tyr31354=)
c.94059T= (p.Tyr31353=)
c.93492T= (p.Tyr31164=)
c.90834T= (p.Tyr30278=)
c.90753T= (p.Tyr30251=)
c.72516T= (p.Tyr24172=)
c.62370T= (p.Tyr20790=)
2g.178537586A>CCA349427817TTN,TTN-AS1c.91917T>G (p.Tyr30639Ter)
c.73002T>G (p.Tyr24334Ter)
c.72801T>G (p.Tyr24267Ter)
c.72426T>G (p.Tyr24142Ter)
c.99621T>G (p.Tyr33207Ter)
c.94698T>G (p.Tyr31566Ter)
n.446+13950A>C
n.542A>C
c.98718T>G (p.Tyr32906Ter)
c.72612T>G (p.Tyr24204Ter)
c.72471T>G (p.Tyr24157Ter)
c.98514T>G (p.Tyr32838Ter)
c.93912T>G (p.Tyr31304Ter)
c.93909T>G (p.Tyr31303Ter)
c.90951T>G (p.Tyr30317Ter)
c.72567T>G (p.Tyr24189Ter)
c.94062T>G (p.Tyr31354Ter)
c.94059T>G (p.Tyr31353Ter)
c.93492T>G (p.Tyr31164Ter)
c.90834T>G (p.Tyr30278Ter)
c.90753T>G (p.Tyr30251Ter)
c.72516T>G (p.Tyr24172Ter)
c.62370T>G (p.Tyr20790Ter)
2g.178537586A>GCA1986165TTN,TTN-AS1c.91917T>C (p.Tyr30639=)
c.73002T>C (p.Tyr24334=)
c.72801T>C (p.Tyr24267=)
c.72426T>C (p.Tyr24142=)
c.99621T>C (p.Tyr33207=)
c.94698T>C (p.Tyr31566=)
n.446+13950A>G
n.542A>G
c.98718T>C (p.Tyr32906=)
c.72612T>C (p.Tyr24204=)
c.72471T>C (p.Tyr24157=)
c.98514T>C (p.Tyr32838=)
c.93912T>C (p.Tyr31304=)
c.93909T>C (p.Tyr31303=)
c.90951T>C (p.Tyr30317=)
c.72567T>C (p.Tyr24189=)
c.94062T>C (p.Tyr31354=)
c.94059T>C (p.Tyr31353=)
c.93492T>C (p.Tyr31164=)
c.90834T>C (p.Tyr30278=)
c.90753T>C (p.Tyr30251=)
c.72516T>C (p.Tyr24172=)
c.62370T>C (p.Tyr20790=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178537586A>TCA349427818TTN,TTN-AS1c.91917T>A (p.Tyr30639Ter)
c.73002T>A (p.Tyr24334Ter)
c.72801T>A (p.Tyr24267Ter)
c.72426T>A (p.Tyr24142Ter)
c.99621T>A (p.Tyr33207Ter)
c.94698T>A (p.Tyr31566Ter)
n.446+13950A>T
n.542A>T
c.98718T>A (p.Tyr32906Ter)
c.72612T>A (p.Tyr24204Ter)
c.72471T>A (p.Tyr24157Ter)
c.98514T>A (p.Tyr32838Ter)
c.93912T>A (p.Tyr31304Ter)
c.93909T>A (p.Tyr31303Ter)
c.90951T>A (p.Tyr30317Ter)
c.72567T>A (p.Tyr24189Ter)
c.94062T>A (p.Tyr31354Ter)
c.94059T>A (p.Tyr31353Ter)
c.93492T>A (p.Tyr31164Ter)
c.90834T>A (p.Tyr30278Ter)
c.90753T>A (p.Tyr30251Ter)
c.72516T>A (p.Tyr24172Ter)
c.62370T>A (p.Tyr20790Ter)
2g.178537587T>ACA349427819TTN,TTN-AS1c.91916A>T (p.Tyr30639Phe)
c.73001A>T (p.Tyr24334Phe)
c.72800A>T (p.Tyr24267Phe)
c.72425A>T (p.Tyr24142Phe)
c.99620A>T (p.Tyr33207Phe)
c.94697A>T (p.Tyr31566Phe)
n.446+13951T>A
n.543T>A
c.98717A>T (p.Tyr32906Phe)
c.72611A>T (p.Tyr24204Phe)
c.72470A>T (p.Tyr24157Phe)
c.98513A>T (p.Tyr32838Phe)
c.93911A>T (p.Tyr31304Phe)
c.93908A>T (p.Tyr31303Phe)
c.90950A>T (p.Tyr30317Phe)
c.72566A>T (p.Tyr24189Phe)
c.94061A>T (p.Tyr31354Phe)
c.94058A>T (p.Tyr31353Phe)
c.93491A>T (p.Tyr31164Phe)
c.90833A>T (p.Tyr30278Phe)
c.90752A>T (p.Tyr30251Phe)
c.72515A>T (p.Tyr24172Phe)
c.62369A>T (p.Tyr20790Phe)
2g.178537587T>CCA349427821TTN,TTN-AS1c.91916A>G (p.Tyr30639Cys)
c.73001A>G (p.Tyr24334Cys)
c.72800A>G (p.Tyr24267Cys)
c.72425A>G (p.Tyr24142Cys)
c.99620A>G (p.Tyr33207Cys)
c.94697A>G (p.Tyr31566Cys)
n.446+13951T>C
n.543T>C
c.98717A>G (p.Tyr32906Cys)
c.72611A>G (p.Tyr24204Cys)
c.72470A>G (p.Tyr24157Cys)
c.98513A>G (p.Tyr32838Cys)
c.93911A>G (p.Tyr31304Cys)
c.93908A>G (p.Tyr31303Cys)
c.90950A>G (p.Tyr30317Cys)
c.72566A>G (p.Tyr24189Cys)
c.94061A>G (p.Tyr31354Cys)
c.94058A>G (p.Tyr31353Cys)
c.93491A>G (p.Tyr31164Cys)
c.90833A>G (p.Tyr30278Cys)
c.90752A>G (p.Tyr30251Cys)
c.72515A>G (p.Tyr24172Cys)
c.62369A>G (p.Tyr20790Cys)
 COSMIC COSMIC COSMIC COSMIC
2g.178537587T>GCA349427820TTN,TTN-AS1c.91916A>C (p.Tyr30639Ser)
c.73001A>C (p.Tyr24334Ser)
c.72800A>C (p.Tyr24267Ser)
c.72425A>C (p.Tyr24142Ser)
c.99620A>C (p.Tyr33207Ser)
c.94697A>C (p.Tyr31566Ser)
n.446+13951T>G
n.543T>G
c.98717A>C (p.Tyr32906Ser)
c.72611A>C (p.Tyr24204Ser)
c.72470A>C (p.Tyr24157Ser)
c.98513A>C (p.Tyr32838Ser)
c.93911A>C (p.Tyr31304Ser)
c.93908A>C (p.Tyr31303Ser)
c.90950A>C (p.Tyr30317Ser)
c.72566A>C (p.Tyr24189Ser)
c.94061A>C (p.Tyr31354Ser)
c.94058A>C (p.Tyr31353Ser)
c.93491A>C (p.Tyr31164Ser)
c.90833A>C (p.Tyr30278Ser)
c.90752A>C (p.Tyr30251Ser)
c.72515A>C (p.Tyr24172Ser)
c.62369A>C (p.Tyr20790Ser)
2g.178537588A>CCA349427822TTN,TTN-AS1c.91915T>G (p.Tyr30639Asp)
c.73000T>G (p.Tyr24334Asp)
c.72799T>G (p.Tyr24267Asp)
c.72424T>G (p.Tyr24142Asp)
c.99619T>G (p.Tyr33207Asp)
c.94696T>G (p.Tyr31566Asp)
n.446+13952A>C
n.544A>C
c.98716T>G (p.Tyr32906Asp)
c.72610T>G (p.Tyr24204Asp)
c.72469T>G (p.Tyr24157Asp)
c.98512T>G (p.Tyr32838Asp)
c.93910T>G (p.Tyr31304Asp)
c.93907T>G (p.Tyr31303Asp)
c.90949T>G (p.Tyr30317Asp)
c.72565T>G (p.Tyr24189Asp)
c.94060T>G (p.Tyr31354Asp)
c.94057T>G (p.Tyr31353Asp)
c.93490T>G (p.Tyr31164Asp)
c.90832T>G (p.Tyr30278Asp)
c.90751T>G (p.Tyr30251Asp)
c.72514T>G (p.Tyr24172Asp)
c.62368T>G (p.Tyr20790Asp)
2g.178537588A>GCA349427823TTN,TTN-AS1c.91915T>C (p.Tyr30639His)
c.73000T>C (p.Tyr24334His)
c.72799T>C (p.Tyr24267His)
c.72424T>C (p.Tyr24142His)
c.99619T>C (p.Tyr33207His)
c.94696T>C (p.Tyr31566His)
n.446+13952A>G
n.544A>G
c.98716T>C (p.Tyr32906His)
c.72610T>C (p.Tyr24204His)
c.72469T>C (p.Tyr24157His)
c.98512T>C (p.Tyr32838His)
c.93910T>C (p.Tyr31304His)
c.93907T>C (p.Tyr31303His)
c.90949T>C (p.Tyr30317His)
c.72565T>C (p.Tyr24189His)
c.94060T>C (p.Tyr31354His)
c.94057T>C (p.Tyr31353His)
c.93490T>C (p.Tyr31164His)
c.90832T>C (p.Tyr30278His)
c.90751T>C (p.Tyr30251His)
c.72514T>C (p.Tyr24172His)
c.62368T>C (p.Tyr20790His)
2g.178537588A>TCA349427824TTN,TTN-AS1c.91915T>A (p.Tyr30639Asn)
c.73000T>A (p.Tyr24334Asn)
c.72799T>A (p.Tyr24267Asn)
c.72424T>A (p.Tyr24142Asn)
c.99619T>A (p.Tyr33207Asn)
c.94696T>A (p.Tyr31566Asn)
n.446+13952A>T
n.544A>T
c.98716T>A (p.Tyr32906Asn)
c.72610T>A (p.Tyr24204Asn)
c.72469T>A (p.Tyr24157Asn)
c.98512T>A (p.Tyr32838Asn)
c.93910T>A (p.Tyr31304Asn)
c.93907T>A (p.Tyr31303Asn)
c.90949T>A (p.Tyr30317Asn)
c.72565T>A (p.Tyr24189Asn)
c.94060T>A (p.Tyr31354Asn)
c.94057T>A (p.Tyr31353Asn)
c.93490T>A (p.Tyr31164Asn)
c.90832T>A (p.Tyr30278Asn)
c.90751T>A (p.Tyr30251Asn)
c.72514T>A (p.Tyr24172Asn)
c.62368T>A (p.Tyr20790Asn)
2g.178537589A>CCA349427825TTN,TTN-AS1c.91914T>G (p.Tyr30638Ter)
c.72999T>G (p.Tyr24333Ter)
c.72798T>G (p.Tyr24266Ter)
c.72423T>G (p.Tyr24141Ter)
c.99618T>G (p.Tyr33206Ter)
c.94695T>G (p.Tyr31565Ter)
n.446+13953A>C
n.545A>C
c.98715T>G (p.Tyr32905Ter)
c.72609T>G (p.Tyr24203Ter)
c.72468T>G (p.Tyr24156Ter)
c.98511T>G (p.Tyr32837Ter)
c.93909T>G (p.Tyr31303Ter)
c.93906T>G (p.Tyr31302Ter)
c.90948T>G (p.Tyr30316Ter)
c.72564T>G (p.Tyr24188Ter)
c.94059T>G (p.Tyr31353Ter)
c.94056T>G (p.Tyr31352Ter)
c.93489T>G (p.Tyr31163Ter)
c.90831T>G (p.Tyr30277Ter)
c.90750T>G (p.Tyr30250Ter)
c.72513T>G (p.Tyr24171Ter)
c.62367T>G (p.Tyr20789Ter)
2g.178537589A>GCA430239446TTN,TTN-AS1c.91914T>C (p.Tyr30638=)
c.72999T>C (p.Tyr24333=)
c.72798T>C (p.Tyr24266=)
c.72423T>C (p.Tyr24141=)
c.99618T>C (p.Tyr33206=)
c.94695T>C (p.Tyr31565=)
n.446+13953A>G
n.545A>G
c.98715T>C (p.Tyr32905=)
c.72609T>C (p.Tyr24203=)
c.72468T>C (p.Tyr24156=)
c.98511T>C (p.Tyr32837=)
c.93909T>C (p.Tyr31303=)
c.93906T>C (p.Tyr31302=)
c.90948T>C (p.Tyr30316=)
c.72564T>C (p.Tyr24188=)
c.94059T>C (p.Tyr31353=)
c.94056T>C (p.Tyr31352=)
c.93489T>C (p.Tyr31163=)
c.90831T>C (p.Tyr30277=)
c.90750T>C (p.Tyr30250=)
c.72513T>C (p.Tyr24171=)
c.62367T>C (p.Tyr20789=)
 gnomAD v4
2g.178537589A>TCA349427826TTN,TTN-AS1c.91914T>A (p.Tyr30638Ter)
c.72999T>A (p.Tyr24333Ter)
c.72798T>A (p.Tyr24266Ter)
c.72423T>A (p.Tyr24141Ter)
c.99618T>A (p.Tyr33206Ter)
c.94695T>A (p.Tyr31565Ter)
n.446+13953A>T
n.545A>T
c.98715T>A (p.Tyr32905Ter)
c.72609T>A (p.Tyr24203Ter)
c.72468T>A (p.Tyr24156Ter)
c.98511T>A (p.Tyr32837Ter)
c.93909T>A (p.Tyr31303Ter)
c.93906T>A (p.Tyr31302Ter)
c.90948T>A (p.Tyr30316Ter)
c.72564T>A (p.Tyr24188Ter)
c.94059T>A (p.Tyr31353Ter)
c.94056T>A (p.Tyr31352Ter)
c.93489T>A (p.Tyr31163Ter)
c.90831T>A (p.Tyr30277Ter)
c.90750T>A (p.Tyr30250Ter)
c.72513T>A (p.Tyr24171Ter)
c.62367T>A (p.Tyr20789Ter)
2g.178537590T>ACA349427827TTN,TTN-AS1c.91913A>T (p.Tyr30638Phe)
c.72998A>T (p.Tyr24333Phe)
c.72797A>T (p.Tyr24266Phe)
c.72422A>T (p.Tyr24141Phe)
c.99617A>T (p.Tyr33206Phe)
c.94694A>T (p.Tyr31565Phe)
n.446+13954T>A
n.546T>A
c.98714A>T (p.Tyr32905Phe)
c.72608A>T (p.Tyr24203Phe)
c.72467A>T (p.Tyr24156Phe)
c.98510A>T (p.Tyr32837Phe)
c.93908A>T (p.Tyr31303Phe)
c.93905A>T (p.Tyr31302Phe)
c.90947A>T (p.Tyr30316Phe)
c.72563A>T (p.Tyr24188Phe)
c.94058A>T (p.Tyr31353Phe)
c.94055A>T (p.Tyr31352Phe)
c.93488A>T (p.Tyr31163Phe)
c.90830A>T (p.Tyr30277Phe)
c.90749A>T (p.Tyr30250Phe)
c.72512A>T (p.Tyr24171Phe)
c.62366A>T (p.Tyr20789Phe)
2g.178537590T>CCA349427828TTN,TTN-AS1c.91913A>G (p.Tyr30638Cys)
c.72998A>G (p.Tyr24333Cys)
c.72797A>G (p.Tyr24266Cys)
c.72422A>G (p.Tyr24141Cys)
c.99617A>G (p.Tyr33206Cys)
c.94694A>G (p.Tyr31565Cys)
n.446+13954T>C
n.546T>C
c.98714A>G (p.Tyr32905Cys)
c.72608A>G (p.Tyr24203Cys)
c.72467A>G (p.Tyr24156Cys)
c.98510A>G (p.Tyr32837Cys)
c.93908A>G (p.Tyr31303Cys)
c.93905A>G (p.Tyr31302Cys)
c.90947A>G (p.Tyr30316Cys)
c.72563A>G (p.Tyr24188Cys)
c.94058A>G (p.Tyr31353Cys)
c.94055A>G (p.Tyr31352Cys)
c.93488A>G (p.Tyr31163Cys)
c.90830A>G (p.Tyr30277Cys)
c.90749A>G (p.Tyr30250Cys)
c.72512A>G (p.Tyr24171Cys)
c.62366A>G (p.Tyr20789Cys)
2g.178537590T>GCA349427829TTN,TTN-AS1c.91913A>C (p.Tyr30638Ser)
c.72998A>C (p.Tyr24333Ser)
c.72797A>C (p.Tyr24266Ser)
c.72422A>C (p.Tyr24141Ser)
c.99617A>C (p.Tyr33206Ser)
c.94694A>C (p.Tyr31565Ser)
n.446+13954T>G
n.546T>G
c.98714A>C (p.Tyr32905Ser)
c.72608A>C (p.Tyr24203Ser)
c.72467A>C (p.Tyr24156Ser)
c.98510A>C (p.Tyr32837Ser)
c.93908A>C (p.Tyr31303Ser)
c.93905A>C (p.Tyr31302Ser)
c.90947A>C (p.Tyr30316Ser)
c.72563A>C (p.Tyr24188Ser)
c.94058A>C (p.Tyr31353Ser)
c.94055A>C (p.Tyr31352Ser)
c.93488A>C (p.Tyr31163Ser)
c.90830A>C (p.Tyr30277Ser)
c.90749A>C (p.Tyr30250Ser)
c.72512A>C (p.Tyr24171Ser)
c.62366A>C (p.Tyr20789Ser)
2g.178537591A>CCA349427830TTN,TTN-AS1c.91912T>G (p.Tyr30638Asp)
c.72997T>G (p.Tyr24333Asp)
c.72796T>G (p.Tyr24266Asp)
c.72421T>G (p.Tyr24141Asp)
c.99616T>G (p.Tyr33206Asp)
c.94693T>G (p.Tyr31565Asp)
n.446+13955A>C
n.547A>C
c.98713T>G (p.Tyr32905Asp)
c.72607T>G (p.Tyr24203Asp)
c.72466T>G (p.Tyr24156Asp)
c.98509T>G (p.Tyr32837Asp)
c.93907T>G (p.Tyr31303Asp)
c.93904T>G (p.Tyr31302Asp)
c.90946T>G (p.Tyr30316Asp)
c.72562T>G (p.Tyr24188Asp)
c.94057T>G (p.Tyr31353Asp)
c.94054T>G (p.Tyr31352Asp)
c.93487T>G (p.Tyr31163Asp)
c.90829T>G (p.Tyr30277Asp)
c.90748T>G (p.Tyr30250Asp)
c.72511T>G (p.Tyr24171Asp)
c.62365T>G (p.Tyr20789Asp)
 gnomAD v4
2g.178537591A>GCA349427831TTN,TTN-AS1c.91912T>C (p.Tyr30638His)
c.72997T>C (p.Tyr24333His)
c.72796T>C (p.Tyr24266His)
c.72421T>C (p.Tyr24141His)
c.99616T>C (p.Tyr33206His)
c.94693T>C (p.Tyr31565His)
n.446+13955A>G
n.547A>G
c.98713T>C (p.Tyr32905His)
c.72607T>C (p.Tyr24203His)
c.72466T>C (p.Tyr24156His)
c.98509T>C (p.Tyr32837His)
c.93907T>C (p.Tyr31303His)
c.93904T>C (p.Tyr31302His)
c.90946T>C (p.Tyr30316His)
c.72562T>C (p.Tyr24188His)
c.94057T>C (p.Tyr31353His)
c.94054T>C (p.Tyr31352His)
c.93487T>C (p.Tyr31163His)
c.90829T>C (p.Tyr30277His)
c.90748T>C (p.Tyr30250His)
c.72511T>C (p.Tyr24171His)
c.62365T>C (p.Tyr20789His)
 gnomAD v4
2g.178537591A>TCA349427832TTN,TTN-AS1c.91912T>A (p.Tyr30638Asn)
c.72997T>A (p.Tyr24333Asn)
c.72796T>A (p.Tyr24266Asn)
c.72421T>A (p.Tyr24141Asn)
c.99616T>A (p.Tyr33206Asn)
c.94693T>A (p.Tyr31565Asn)
n.446+13955A>T
n.547A>T
c.98713T>A (p.Tyr32905Asn)
c.72607T>A (p.Tyr24203Asn)
c.72466T>A (p.Tyr24156Asn)
c.98509T>A (p.Tyr32837Asn)
c.93907T>A (p.Tyr31303Asn)
c.93904T>A (p.Tyr31302Asn)
c.90946T>A (p.Tyr30316Asn)
c.72562T>A (p.Tyr24188Asn)
c.94057T>A (p.Tyr31353Asn)
c.94054T>A (p.Tyr31352Asn)
c.93487T>A (p.Tyr31163Asn)
c.90829T>A (p.Tyr30277Asn)
c.90748T>A (p.Tyr30250Asn)
c.72511T>A (p.Tyr24171Asn)
c.62365T>A (p.Tyr20789Asn)
2g.178537592T>ACA349427834TTN,TTN-AS1c.91911A>T (p.Lys30637Asn)
c.72996A>T (p.Lys24332Asn)
c.72795A>T (p.Lys24265Asn)
c.72420A>T (p.Lys24140Asn)
c.99615A>T (p.Lys33205Asn)
c.94692A>T (p.Lys31564Asn)
n.446+13956T>A
n.548T>A
c.98712A>T (p.Lys32904Asn)
c.72606A>T (p.Lys24202Asn)
c.72465A>T (p.Lys24155Asn)
c.98508A>T (p.Lys32836Asn)
c.93906A>T (p.Lys31302Asn)
c.93903A>T (p.Lys31301Asn)
c.90945A>T (p.Lys30315Asn)
c.72561A>T (p.Lys24187Asn)
c.94056A>T (p.Lys31352Asn)
c.94053A>T (p.Lys31351Asn)
c.93486A>T (p.Lys31162Asn)
c.90828A>T (p.Lys30276Asn)
c.90747A>T (p.Lys30249Asn)
c.72510A>T (p.Lys24170Asn)
c.62364A>T (p.Lys20788Asn)
2g.178537592T>CCA430239457TTN,TTN-AS1c.91911A>G (p.Lys30637=)
c.72996A>G (p.Lys24332=)
c.72795A>G (p.Lys24265=)
c.72420A>G (p.Lys24140=)
c.99615A>G (p.Lys33205=)
c.94692A>G (p.Lys31564=)
n.446+13956T>C
n.548T>C
c.98712A>G (p.Lys32904=)
c.72606A>G (p.Lys24202=)
c.72465A>G (p.Lys24155=)
c.98508A>G (p.Lys32836=)
c.93906A>G (p.Lys31302=)
c.93903A>G (p.Lys31301=)
c.90945A>G (p.Lys30315=)
c.72561A>G (p.Lys24187=)
c.94056A>G (p.Lys31352=)
c.94053A>G (p.Lys31351=)
c.93486A>G (p.Lys31162=)
c.90828A>G (p.Lys30276=)
c.90747A>G (p.Lys30249=)
c.72510A>G (p.Lys24170=)
c.62364A>G (p.Lys20788=)
2g.178537592T>GCA349427833TTN,TTN-AS1c.91911A>C (p.Lys30637Asn)
c.72996A>C (p.Lys24332Asn)
c.72795A>C (p.Lys24265Asn)
c.72420A>C (p.Lys24140Asn)
c.99615A>C (p.Lys33205Asn)
c.94692A>C (p.Lys31564Asn)
n.446+13956T>G
n.548T>G
c.98712A>C (p.Lys32904Asn)
c.72606A>C (p.Lys24202Asn)
c.72465A>C (p.Lys24155Asn)
c.98508A>C (p.Lys32836Asn)
c.93906A>C (p.Lys31302Asn)
c.93903A>C (p.Lys31301Asn)
c.90945A>C (p.Lys30315Asn)
c.72561A>C (p.Lys24187Asn)
c.94056A>C (p.Lys31352Asn)
c.94053A>C (p.Lys31351Asn)
c.93486A>C (p.Lys31162Asn)
c.90828A>C (p.Lys30276Asn)
c.90747A>C (p.Lys30249Asn)
c.72510A>C (p.Lys24170Asn)
c.62364A>C (p.Lys20788Asn)
2g.178537593T>ACA349427835TTN,TTN-AS1c.91910A>T (p.Lys30637Ile)
c.72995A>T (p.Lys24332Ile)
c.72794A>T (p.Lys24265Ile)
c.72419A>T (p.Lys24140Ile)
c.99614A>T (p.Lys33205Ile)
c.94691A>T (p.Lys31564Ile)
n.446+13957T>A
n.549T>A
c.98711A>T (p.Lys32904Ile)
c.72605A>T (p.Lys24202Ile)
c.72464A>T (p.Lys24155Ile)
c.98507A>T (p.Lys32836Ile)
c.93905A>T (p.Lys31302Ile)
c.93902A>T (p.Lys31301Ile)
c.90944A>T (p.Lys30315Ile)
c.72560A>T (p.Lys24187Ile)
c.94055A>T (p.Lys31352Ile)
c.94052A>T (p.Lys31351Ile)
c.93485A>T (p.Lys31162Ile)
c.90827A>T (p.Lys30276Ile)
c.90746A>T (p.Lys30249Ile)
c.72509A>T (p.Lys24170Ile)
c.62363A>T (p.Lys20788Ile)
2g.178537593T>CCA349427836TTN,TTN-AS1c.91910A>G (p.Lys30637Arg)
c.72995A>G (p.Lys24332Arg)
c.72794A>G (p.Lys24265Arg)
c.72419A>G (p.Lys24140Arg)
c.99614A>G (p.Lys33205Arg)
c.94691A>G (p.Lys31564Arg)
n.446+13957T>C
n.549T>C
c.98711A>G (p.Lys32904Arg)
c.72605A>G (p.Lys24202Arg)
c.72464A>G (p.Lys24155Arg)
c.98507A>G (p.Lys32836Arg)
c.93905A>G (p.Lys31302Arg)
c.93902A>G (p.Lys31301Arg)
c.90944A>G (p.Lys30315Arg)
c.72560A>G (p.Lys24187Arg)
c.94055A>G (p.Lys31352Arg)
c.94052A>G (p.Lys31351Arg)
c.93485A>G (p.Lys31162Arg)
c.90827A>G (p.Lys30276Arg)
c.90746A>G (p.Lys30249Arg)
c.72509A>G (p.Lys24170Arg)
c.62363A>G (p.Lys20788Arg)
2g.178537593T>GCA349427837TTN,TTN-AS1c.91910A>C (p.Lys30637Thr)
c.72995A>C (p.Lys24332Thr)
c.72794A>C (p.Lys24265Thr)
c.72419A>C (p.Lys24140Thr)
c.99614A>C (p.Lys33205Thr)
c.94691A>C (p.Lys31564Thr)
n.446+13957T>G
n.549T>G
c.98711A>C (p.Lys32904Thr)
c.72605A>C (p.Lys24202Thr)
c.72464A>C (p.Lys24155Thr)
c.98507A>C (p.Lys32836Thr)
c.93905A>C (p.Lys31302Thr)
c.93902A>C (p.Lys31301Thr)
c.90944A>C (p.Lys30315Thr)
c.72560A>C (p.Lys24187Thr)
c.94055A>C (p.Lys31352Thr)
c.94052A>C (p.Lys31351Thr)
c.93485A>C (p.Lys31162Thr)
c.90827A>C (p.Lys30276Thr)
c.90746A>C (p.Lys30249Thr)
c.72509A>C (p.Lys24170Thr)
c.62363A>C (p.Lys20788Thr)
2g.178537594T>ACA349427838TTN,TTN-AS1c.91909A>T (p.Lys30637Ter)
c.72994A>T (p.Lys24332Ter)
c.72793A>T (p.Lys24265Ter)
c.72418A>T (p.Lys24140Ter)
c.99613A>T (p.Lys33205Ter)
c.94690A>T (p.Lys31564Ter)
n.446+13958T>A
n.550T>A
c.98710A>T (p.Lys32904Ter)
c.72604A>T (p.Lys24202Ter)
c.72463A>T (p.Lys24155Ter)
c.98506A>T (p.Lys32836Ter)
c.93904A>T (p.Lys31302Ter)
c.93901A>T (p.Lys31301Ter)
c.90943A>T (p.Lys30315Ter)
c.72559A>T (p.Lys24187Ter)
c.94054A>T (p.Lys31352Ter)
c.94051A>T (p.Lys31351Ter)
c.93484A>T (p.Lys31162Ter)
c.90826A>T (p.Lys30276Ter)
c.90745A>T (p.Lys30249Ter)
c.72508A>T (p.Lys24170Ter)
c.62362A>T (p.Lys20788Ter)
 ClinVar
2g.178537594T>CCA349427839TTN,TTN-AS1c.91909A>G (p.Lys30637Glu)
c.72994A>G (p.Lys24332Glu)
c.72793A>G (p.Lys24265Glu)
c.72418A>G (p.Lys24140Glu)
c.99613A>G (p.Lys33205Glu)
c.94690A>G (p.Lys31564Glu)
n.446+13958T>C
n.550T>C
c.98710A>G (p.Lys32904Glu)
c.72604A>G (p.Lys24202Glu)
c.72463A>G (p.Lys24155Glu)
c.98506A>G (p.Lys32836Glu)
c.93904A>G (p.Lys31302Glu)
c.93901A>G (p.Lys31301Glu)
c.90943A>G (p.Lys30315Glu)
c.72559A>G (p.Lys24187Glu)
c.94054A>G (p.Lys31352Glu)
c.94051A>G (p.Lys31351Glu)
c.93484A>G (p.Lys31162Glu)
c.90826A>G (p.Lys30276Glu)
c.90745A>G (p.Lys30249Glu)
c.72508A>G (p.Lys24170Glu)
c.62362A>G (p.Lys20788Glu)
2g.178537594T>GCA349427840TTN,TTN-AS1c.91909A>C (p.Lys30637Gln)
c.72994A>C (p.Lys24332Gln)
c.72793A>C (p.Lys24265Gln)
c.72418A>C (p.Lys24140Gln)
c.99613A>C (p.Lys33205Gln)
c.94690A>C (p.Lys31564Gln)
n.446+13958T>G
n.550T>G
c.98710A>C (p.Lys32904Gln)
c.72604A>C (p.Lys24202Gln)
c.72463A>C (p.Lys24155Gln)
c.98506A>C (p.Lys32836Gln)
c.93904A>C (p.Lys31302Gln)
c.93901A>C (p.Lys31301Gln)
c.90943A>C (p.Lys30315Gln)
c.72559A>C (p.Lys24187Gln)
c.94054A>C (p.Lys31352Gln)
c.94051A>C (p.Lys31351Gln)
c.93484A>C (p.Lys31162Gln)
c.90826A>C (p.Lys30276Gln)
c.90745A>C (p.Lys30249Gln)
c.72508A>C (p.Lys24170Gln)
c.62362A>C (p.Lys20788Gln)
2g.178537597_178537598delCA2662121189TTN,TTN-AS1c.91908_91909del (p.Lys30637IlefsTer?)
c.72993_72994del (p.Lys24332IlefsTer?)
c.72792_72793del (p.Lys24265IlefsTer?)
c.72417_72418del (p.Lys24140IlefsTer?)
c.99612_99613del (p.Lys33205IlefsTer?)
c.94689_94690del (p.Lys31564IlefsTer?)
n.446+13961_446+13962del
n.553_554del
c.98709_98710del (p.Lys32904IlefsTer?)
c.72603_72604del (p.Lys24202IlefsTer?)
c.72462_72463del (p.Lys24155IlefsTer?)
c.98505_98506del (p.Lys32836IlefsTer?)
c.93903_93904del (p.Lys31302IlefsTer?)
c.93900_93901del (p.Lys31301IlefsTer?)
c.90942_90943del (p.Lys30315IlefsTer?)
c.72558_72559del (p.Lys24187IlefsTer?)
c.94053_94054del (p.Lys31352IlefsTer?)
c.94050_94051del (p.Lys31351IlefsTer?)
c.93483_93484del (p.Lys31162IlefsTer?)
c.90825_90826del (p.Lys30276IlefsTer?)
c.90744_90745del (p.Lys30249IlefsTer?)
c.72507_72508del (p.Lys24170IlefsTer?)
c.62361_62362del (p.Lys20788IlefsTer?)
 gnomAD v4
2g.178537595C>ACA349427841TTN,TTN-AS1c.91908G>T (p.Glu30636Asp)
c.72993G>T (p.Glu24331Asp)
c.72792G>T (p.Glu24264Asp)
c.72417G>T (p.Glu24139Asp)
c.99612G>T (p.Glu33204Asp)
c.94689G>T (p.Glu31563Asp)
n.446+13959C>A
n.551C>A
c.98709G>T (p.Glu32903Asp)
c.72603G>T (p.Glu24201Asp)
c.72462G>T (p.Glu24154Asp)
c.98505G>T (p.Glu32835Asp)
c.93903G>T (p.Glu31301Asp)
c.93900G>T (p.Glu31300Asp)
c.90942G>T (p.Glu30314Asp)
c.72558G>T (p.Glu24186Asp)
c.94053G>T (p.Glu31351Asp)
c.94050G>T (p.Glu31350Asp)
c.93483G>T (p.Glu31161Asp)
c.90825G>T (p.Glu30275Asp)
c.90744G>T (p.Glu30248Asp)
c.72507G>T (p.Glu24169Asp)
c.62361G>T (p.Glu20787Asp)
2g.178537595C>GCA349427842TTN,TTN-AS1c.91908G>C (p.Glu30636Asp)
c.72993G>C (p.Glu24331Asp)
c.72792G>C (p.Glu24264Asp)
c.72417G>C (p.Glu24139Asp)
c.99612G>C (p.Glu33204Asp)
c.94689G>C (p.Glu31563Asp)
n.446+13959C>G
n.551C>G
c.98709G>C (p.Glu32903Asp)
c.72603G>C (p.Glu24201Asp)
c.72462G>C (p.Glu24154Asp)
c.98505G>C (p.Glu32835Asp)
c.93903G>C (p.Glu31301Asp)
c.93900G>C (p.Glu31300Asp)
c.90942G>C (p.Glu30314Asp)
c.72558G>C (p.Glu24186Asp)
c.94053G>C (p.Glu31351Asp)
c.94050G>C (p.Glu31350Asp)
c.93483G>C (p.Glu31161Asp)
c.90825G>C (p.Glu30275Asp)
c.90744G>C (p.Glu30248Asp)
c.72507G>C (p.Glu24169Asp)
c.62361G>C (p.Glu20787Asp)
 gnomAD v4
2g.178537595C>TCA430239469TTN,TTN-AS1c.91908G>A (p.Glu30636=)
c.72993G>A (p.Glu24331=)
c.72792G>A (p.Glu24264=)
c.72417G>A (p.Glu24139=)
c.99612G>A (p.Glu33204=)
c.94689G>A (p.Glu31563=)
n.446+13959C>T
n.551C>T
c.98709G>A (p.Glu32903=)
c.72603G>A (p.Glu24201=)
c.72462G>A (p.Glu24154=)
c.98505G>A (p.Glu32835=)
c.93903G>A (p.Glu31301=)
c.93900G>A (p.Glu31300=)
c.90942G>A (p.Glu30314=)
c.72558G>A (p.Glu24186=)
c.94053G>A (p.Glu31351=)
c.94050G>A (p.Glu31350=)
c.93483G>A (p.Glu31161=)
c.90825G>A (p.Glu30275=)
c.90744G>A (p.Glu30248=)
c.72507G>A (p.Glu24169=)
c.62361G>A (p.Glu20787=)
2g.178537596T>ACA349427843TTN,TTN-AS1c.91907A>T (p.Glu30636Val)
c.72992A>T (p.Glu24331Val)
c.72791A>T (p.Glu24264Val)
c.72416A>T (p.Glu24139Val)
c.99611A>T (p.Glu33204Val)
c.94688A>T (p.Glu31563Val)
n.446+13960T>A
n.552T>A
c.98708A>T (p.Glu32903Val)
c.72602A>T (p.Glu24201Val)
c.72461A>T (p.Glu24154Val)
c.98504A>T (p.Glu32835Val)
c.93902A>T (p.Glu31301Val)
c.93899A>T (p.Glu31300Val)
c.90941A>T (p.Glu30314Val)
c.72557A>T (p.Glu24186Val)
c.94052A>T (p.Glu31351Val)
c.94049A>T (p.Glu31350Val)
c.93482A>T (p.Glu31161Val)
c.90824A>T (p.Glu30275Val)
c.90743A>T (p.Glu30248Val)
c.72506A>T (p.Glu24169Val)
c.62360A>T (p.Glu20787Val)
 gnomAD v4
2g.178537596T>CCA349427844TTN,TTN-AS1c.91907A>G (p.Glu30636Gly)
c.72992A>G (p.Glu24331Gly)
c.72791A>G (p.Glu24264Gly)
c.72416A>G (p.Glu24139Gly)
c.99611A>G (p.Glu33204Gly)
c.94688A>G (p.Glu31563Gly)
n.446+13960T>C
n.552T>C
c.98708A>G (p.Glu32903Gly)
c.72602A>G (p.Glu24201Gly)
c.72461A>G (p.Glu24154Gly)
c.98504A>G (p.Glu32835Gly)
c.93902A>G (p.Glu31301Gly)
c.93899A>G (p.Glu31300Gly)
c.90941A>G (p.Glu30314Gly)
c.72557A>G (p.Glu24186Gly)
c.94052A>G (p.Glu31351Gly)
c.94049A>G (p.Glu31350Gly)
c.93482A>G (p.Glu31161Gly)
c.90824A>G (p.Glu30275Gly)
c.90743A>G (p.Glu30248Gly)
c.72506A>G (p.Glu24169Gly)
c.62360A>G (p.Glu20787Gly)
2g.178537596T>GCA349427845TTN,TTN-AS1c.91907A>C (p.Glu30636Ala)
c.72992A>C (p.Glu24331Ala)
c.72791A>C (p.Glu24264Ala)
c.72416A>C (p.Glu24139Ala)
c.99611A>C (p.Glu33204Ala)
c.94688A>C (p.Glu31563Ala)
n.446+13960T>G
n.552T>G
c.98708A>C (p.Glu32903Ala)
c.72602A>C (p.Glu24201Ala)
c.72461A>C (p.Glu24154Ala)
c.98504A>C (p.Glu32835Ala)
c.93902A>C (p.Glu31301Ala)
c.93899A>C (p.Glu31300Ala)
c.90941A>C (p.Glu30314Ala)
c.72557A>C (p.Glu24186Ala)
c.94052A>C (p.Glu31351Ala)
c.94049A>C (p.Glu31350Ala)
c.93482A>C (p.Glu31161Ala)
c.90824A>C (p.Glu30275Ala)
c.90743A>C (p.Glu30248Ala)
c.72506A>C (p.Glu24169Ala)
c.62360A>C (p.Glu20787Ala)
2g.178537597C>ACA349427847TTN,TTN-AS1c.91906G>T (p.Glu30636Ter)
c.72991G>T (p.Glu24331Ter)
c.72790G>T (p.Glu24264Ter)
c.72415G>T (p.Glu24139Ter)
c.99610G>T (p.Glu33204Ter)
c.94687G>T (p.Glu31563Ter)
n.446+13961C>A
n.553C>A
c.98707G>T (p.Glu32903Ter)
c.72601G>T (p.Glu24201Ter)
c.72460G>T (p.Glu24154Ter)
c.98503G>T (p.Glu32835Ter)
c.93901G>T (p.Glu31301Ter)
c.93898G>T (p.Glu31300Ter)
c.90940G>T (p.Glu30314Ter)
c.72556G>T (p.Glu24186Ter)
c.94051G>T (p.Glu31351Ter)
c.94048G>T (p.Glu31350Ter)
c.93481G>T (p.Glu31161Ter)
c.90823G>T (p.Glu30275Ter)
c.90742G>T (p.Glu30248Ter)
c.72505G>T (p.Glu24169Ter)
c.62359G>T (p.Glu20787Ter)
 ClinVar dbSNP
2g.178537597C=CA1310515538TTN,TTN-AS1c.91906G= (p.Glu30636=)
c.72991G= (p.Glu24331=)
c.72790G= (p.Glu24264=)
c.72415G= (p.Glu24139=)
c.99610G= (p.Glu33204=)
c.94687G= (p.Glu31563=)
n.446+13961C=
n.553C=
c.98707G= (p.Glu32903=)
c.72601G= (p.Glu24201=)
c.72460G= (p.Glu24154=)
c.98503G= (p.Glu32835=)
c.93901G= (p.Glu31301=)
c.93898G= (p.Glu31300=)
c.90940G= (p.Glu30314=)
c.72556G= (p.Glu24186=)
c.94051G= (p.Glu31351=)
c.94048G= (p.Glu31350=)
c.93481G= (p.Glu31161=)
c.90823G= (p.Glu30275=)
c.90742G= (p.Glu30248=)
c.72505G= (p.Glu24169=)
c.62359G= (p.Glu20787=)
2g.178537597C>GCA349427848TTN,TTN-AS1c.91906G>C (p.Glu30636Gln)
c.72991G>C (p.Glu24331Gln)
c.72790G>C (p.Glu24264Gln)
c.72415G>C (p.Glu24139Gln)
c.99610G>C (p.Glu33204Gln)
c.94687G>C (p.Glu31563Gln)
n.446+13961C>G
n.553C>G
c.98707G>C (p.Glu32903Gln)
c.72601G>C (p.Glu24201Gln)
c.72460G>C (p.Glu24154Gln)
c.98503G>C (p.Glu32835Gln)
c.93901G>C (p.Glu31301Gln)
c.93898G>C (p.Glu31300Gln)
c.90940G>C (p.Glu30314Gln)
c.72556G>C (p.Glu24186Gln)
c.94051G>C (p.Glu31351Gln)
c.94048G>C (p.Glu31350Gln)
c.93481G>C (p.Glu31161Gln)
c.90823G>C (p.Glu30275Gln)
c.90742G>C (p.Glu30248Gln)
c.72505G>C (p.Glu24169Gln)
c.62359G>C (p.Glu20787Gln)
2g.178537597C>TCA349427846TTN,TTN-AS1c.91906G>A (p.Glu30636Lys)
c.72991G>A (p.Glu24331Lys)
c.72790G>A (p.Glu24264Lys)
c.72415G>A (p.Glu24139Lys)
c.99610G>A (p.Glu33204Lys)
c.94687G>A (p.Glu31563Lys)
n.446+13961C>T
n.553C>T
c.98707G>A (p.Glu32903Lys)
c.72601G>A (p.Glu24201Lys)
c.72460G>A (p.Glu24154Lys)
c.98503G>A (p.Glu32835Lys)
c.93901G>A (p.Glu31301Lys)
c.93898G>A (p.Glu31300Lys)
c.90940G>A (p.Glu30314Lys)
c.72556G>A (p.Glu24186Lys)
c.94051G>A (p.Glu31351Lys)
c.94048G>A (p.Glu31350Lys)
c.93481G>A (p.Glu31161Lys)
c.90823G>A (p.Glu30275Lys)
c.90742G>A (p.Glu30248Lys)
c.72505G>A (p.Glu24169Lys)
c.62359G>A (p.Glu20787Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.178537598T>ACA349427849TTN,TTN-AS1c.91905A>T (p.Lys30635Asn)
c.72990A>T (p.Lys24330Asn)
c.72789A>T (p.Lys24263Asn)
c.72414A>T (p.Lys24138Asn)
c.99609A>T (p.Lys33203Asn)
c.94686A>T (p.Lys31562Asn)
n.446+13962T>A
n.554T>A
c.98706A>T (p.Lys32902Asn)
c.72600A>T (p.Lys24200Asn)
c.72459A>T (p.Lys24153Asn)
c.98502A>T (p.Lys32834Asn)
c.93900A>T (p.Lys31300Asn)
c.93897A>T (p.Lys31299Asn)
c.90939A>T (p.Lys30313Asn)
c.72555A>T (p.Lys24185Asn)
c.94050A>T (p.Lys31350Asn)
c.94047A>T (p.Lys31349Asn)
c.93480A>T (p.Lys31160Asn)
c.90822A>T (p.Lys30274Asn)
c.90741A>T (p.Lys30247Asn)
c.72504A>T (p.Lys24168Asn)
c.62358A>T (p.Lys20786Asn)
2g.178537598T>CCA430239476TTN,TTN-AS1c.91905A>G (p.Lys30635=)
c.72990A>G (p.Lys24330=)
c.72789A>G (p.Lys24263=)
c.72414A>G (p.Lys24138=)
c.99609A>G (p.Lys33203=)
c.94686A>G (p.Lys31562=)
n.446+13962T>C
n.554T>C
c.98706A>G (p.Lys32902=)
c.72600A>G (p.Lys24200=)
c.72459A>G (p.Lys24153=)
c.98502A>G (p.Lys32834=)
c.93900A>G (p.Lys31300=)
c.93897A>G (p.Lys31299=)
c.90939A>G (p.Lys30313=)
c.72555A>G (p.Lys24185=)
c.94050A>G (p.Lys31350=)
c.94047A>G (p.Lys31349=)
c.93480A>G (p.Lys31160=)
c.90822A>G (p.Lys30274=)
c.90741A>G (p.Lys30247=)
c.72504A>G (p.Lys24168=)
c.62358A>G (p.Lys20786=)
2g.178537598T>GCA349427850TTN,TTN-AS1c.91905A>C (p.Lys30635Asn)
c.72990A>C (p.Lys24330Asn)
c.72789A>C (p.Lys24263Asn)
c.72414A>C (p.Lys24138Asn)
c.99609A>C (p.Lys33203Asn)
c.94686A>C (p.Lys31562Asn)
n.446+13962T>G
n.554T>G
c.98706A>C (p.Lys32902Asn)
c.72600A>C (p.Lys24200Asn)
c.72459A>C (p.Lys24153Asn)
c.98502A>C (p.Lys32834Asn)
c.93900A>C (p.Lys31300Asn)
c.93897A>C (p.Lys31299Asn)
c.90939A>C (p.Lys30313Asn)
c.72555A>C (p.Lys24185Asn)
c.94050A>C (p.Lys31350Asn)
c.94047A>C (p.Lys31349Asn)
c.93480A>C (p.Lys31160Asn)
c.90822A>C (p.Lys30274Asn)
c.90741A>C (p.Lys30247Asn)
c.72504A>C (p.Lys24168Asn)
c.62358A>C (p.Lys20786Asn)
2g.178537599T>ACA349427851TTN,TTN-AS1c.91904A>T (p.Lys30635Ile)
c.72989A>T (p.Lys24330Ile)
c.72788A>T (p.Lys24263Ile)
c.72413A>T (p.Lys24138Ile)
c.99608A>T (p.Lys33203Ile)
c.94685A>T (p.Lys31562Ile)
n.446+13963T>A
n.555T>A
c.98705A>T (p.Lys32902Ile)
c.72599A>T (p.Lys24200Ile)
c.72458A>T (p.Lys24153Ile)
c.98501A>T (p.Lys32834Ile)
c.93899A>T (p.Lys31300Ile)
c.93896A>T (p.Lys31299Ile)
c.90938A>T (p.Lys30313Ile)
c.72554A>T (p.Lys24185Ile)
c.94049A>T (p.Lys31350Ile)
c.94046A>T (p.Lys31349Ile)
c.93479A>T (p.Lys31160Ile)
c.90821A>T (p.Lys30274Ile)
c.90740A>T (p.Lys30247Ile)
c.72503A>T (p.Lys24168Ile)
c.62357A>T (p.Lys20786Ile)
2g.178537599T>CCA349427852TTN,TTN-AS1c.91904A>G (p.Lys30635Arg)
c.72989A>G (p.Lys24330Arg)
c.72788A>G (p.Lys24263Arg)
c.72413A>G (p.Lys24138Arg)
c.99608A>G (p.Lys33203Arg)
c.94685A>G (p.Lys31562Arg)
n.446+13963T>C
n.555T>C
c.98705A>G (p.Lys32902Arg)
c.72599A>G (p.Lys24200Arg)
c.72458A>G (p.Lys24153Arg)
c.98501A>G (p.Lys32834Arg)
c.93899A>G (p.Lys31300Arg)
c.93896A>G (p.Lys31299Arg)
c.90938A>G (p.Lys30313Arg)
c.72554A>G (p.Lys24185Arg)
c.94049A>G (p.Lys31350Arg)
c.94046A>G (p.Lys31349Arg)
c.93479A>G (p.Lys31160Arg)
c.90821A>G (p.Lys30274Arg)
c.90740A>G (p.Lys30247Arg)
c.72503A>G (p.Lys24168Arg)
c.62357A>G (p.Lys20786Arg)
2g.178537599T>GCA349427853TTN,TTN-AS1c.91904A>C (p.Lys30635Thr)
c.72989A>C (p.Lys24330Thr)
c.72788A>C (p.Lys24263Thr)
c.72413A>C (p.Lys24138Thr)
c.99608A>C (p.Lys33203Thr)
c.94685A>C (p.Lys31562Thr)
n.446+13963T>G
n.555T>G
c.98705A>C (p.Lys32902Thr)
c.72599A>C (p.Lys24200Thr)
c.72458A>C (p.Lys24153Thr)
c.98501A>C (p.Lys32834Thr)
c.93899A>C (p.Lys31300Thr)
c.93896A>C (p.Lys31299Thr)
c.90938A>C (p.Lys30313Thr)
c.72554A>C (p.Lys24185Thr)
c.94049A>C (p.Lys31350Thr)
c.94046A>C (p.Lys31349Thr)
c.93479A>C (p.Lys31160Thr)
c.90821A>C (p.Lys30274Thr)
c.90740A>C (p.Lys30247Thr)
c.72503A>C (p.Lys24168Thr)
c.62357A>C (p.Lys20786Thr)
2g.178537600T>ACA349427856TTN,TTN-AS1c.91903A>T (p.Lys30635Ter)
c.72988A>T (p.Lys24330Ter)
c.72787A>T (p.Lys24263Ter)
c.72412A>T (p.Lys24138Ter)
c.99607A>T (p.Lys33203Ter)
c.94684A>T (p.Lys31562Ter)
n.446+13964T>A
n.556T>A
c.98704A>T (p.Lys32902Ter)
c.72598A>T (p.Lys24200Ter)
c.72457A>T (p.Lys24153Ter)
c.98500A>T (p.Lys32834Ter)
c.93898A>T (p.Lys31300Ter)
c.93895A>T (p.Lys31299Ter)
c.90937A>T (p.Lys30313Ter)
c.72553A>T (p.Lys24185Ter)
c.94048A>T (p.Lys31350Ter)
c.94045A>T (p.Lys31349Ter)
c.93478A>T (p.Lys31160Ter)
c.90820A>T (p.Lys30274Ter)
c.90739A>T (p.Lys30247Ter)
c.72502A>T (p.Lys24168Ter)
c.62356A>T (p.Lys20786Ter)
2g.178537600T>CCA349427855TTN,TTN-AS1c.91903A>G (p.Lys30635Glu)
c.72988A>G (p.Lys24330Glu)
c.72787A>G (p.Lys24263Glu)
c.72412A>G (p.Lys24138Glu)
c.99607A>G (p.Lys33203Glu)
c.94684A>G (p.Lys31562Glu)
n.446+13964T>C
n.556T>C
c.98704A>G (p.Lys32902Glu)
c.72598A>G (p.Lys24200Glu)
c.72457A>G (p.Lys24153Glu)
c.98500A>G (p.Lys32834Glu)
c.93898A>G (p.Lys31300Glu)
c.93895A>G (p.Lys31299Glu)
c.90937A>G (p.Lys30313Glu)
c.72553A>G (p.Lys24185Glu)
c.94048A>G (p.Lys31350Glu)
c.94045A>G (p.Lys31349Glu)
c.93478A>G (p.Lys31160Glu)
c.90820A>G (p.Lys30274Glu)
c.90739A>G (p.Lys30247Glu)
c.72502A>G (p.Lys24168Glu)
c.62356A>G (p.Lys20786Glu)
2g.178537600T>GCA349427854TTN,TTN-AS1c.91903A>C (p.Lys30635Gln)
c.72988A>C (p.Lys24330Gln)
c.72787A>C (p.Lys24263Gln)
c.72412A>C (p.Lys24138Gln)
c.99607A>C (p.Lys33203Gln)
c.94684A>C (p.Lys31562Gln)
n.446+13964T>G
n.556T>G
c.98704A>C (p.Lys32902Gln)
c.72598A>C (p.Lys24200Gln)
c.72457A>C (p.Lys24153Gln)
c.98500A>C (p.Lys32834Gln)
c.93898A>C (p.Lys31300Gln)
c.93895A>C (p.Lys31299Gln)
c.90937A>C (p.Lys30313Gln)
c.72553A>C (p.Lys24185Gln)
c.94048A>C (p.Lys31350Gln)
c.94045A>C (p.Lys31349Gln)
c.93478A>C (p.Lys31160Gln)
c.90820A>C (p.Lys30274Gln)
c.90739A>C (p.Lys30247Gln)
c.72502A>C (p.Lys24168Gln)
c.62356A>C (p.Lys20786Gln)
2g.178537601C>ACA430239495TTN,TTN-AS1c.91902G>T (p.Leu30634=)
c.72987G>T (p.Leu24329=)
c.72786G>T (p.Leu24262=)
c.72411G>T (p.Leu24137=)
c.99606G>T (p.Leu33202=)
c.94683G>T (p.Leu31561=)
n.446+13965C>A
n.557C>A
c.98703G>T (p.Leu32901=)
c.72597G>T (p.Leu24199=)
c.72456G>T (p.Leu24152=)
c.98499G>T (p.Leu32833=)
c.93897G>T (p.Leu31299=)
c.93894G>T (p.Leu31298=)
c.90936G>T (p.Leu30312=)
c.72552G>T (p.Leu24184=)
c.94047G>T (p.Leu31349=)
c.94044G>T (p.Leu31348=)
c.93477G>T (p.Leu31159=)
c.90819G>T (p.Leu30273=)
c.90738G>T (p.Leu30246=)
c.72501G>T (p.Leu24167=)
c.62355G>T (p.Leu20785=)
2g.178537601C=CA1310515539TTN,TTN-AS1c.91902G= (p.Leu30634=)
c.72987G= (p.Leu24329=)
c.72786G= (p.Leu24262=)
c.72411G= (p.Leu24137=)
c.99606G= (p.Leu33202=)
c.94683G= (p.Leu31561=)
n.446+13965C=
n.557C=
c.98703G= (p.Leu32901=)
c.72597G= (p.Leu24199=)
c.72456G= (p.Leu24152=)
c.98499G= (p.Leu32833=)
c.93897G= (p.Leu31299=)
c.93894G= (p.Leu31298=)
c.90936G= (p.Leu30312=)
c.72552G= (p.Leu24184=)
c.94047G= (p.Leu31349=)
c.94044G= (p.Leu31348=)
c.93477G= (p.Leu31159=)
c.90819G= (p.Leu30273=)
c.90738G= (p.Leu30246=)
c.72501G= (p.Leu24167=)
c.62355G= (p.Leu20785=)
2g.178537601C>GCA430239498TTN,TTN-AS1c.91902G>C (p.Leu30634=)
c.72987G>C (p.Leu24329=)
c.72786G>C (p.Leu24262=)
c.72411G>C (p.Leu24137=)
c.99606G>C (p.Leu33202=)
c.94683G>C (p.Leu31561=)
n.446+13965C>G
n.557C>G
c.98703G>C (p.Leu32901=)
c.72597G>C (p.Leu24199=)
c.72456G>C (p.Leu24152=)
c.98499G>C (p.Leu32833=)
c.93897G>C (p.Leu31299=)
c.93894G>C (p.Leu31298=)
c.90936G>C (p.Leu30312=)
c.72552G>C (p.Leu24184=)
c.94047G>C (p.Leu31349=)
c.94044G>C (p.Leu31348=)
c.93477G>C (p.Leu31159=)
c.90819G>C (p.Leu30273=)
c.90738G>C (p.Leu30246=)
c.72501G>C (p.Leu24167=)
c.62355G>C (p.Leu20785=)
2g.178537601C>TCA430239496TTN,TTN-AS1c.91902G>A (p.Leu30634=)
c.72987G>A (p.Leu24329=)
c.72786G>A (p.Leu24262=)
c.72411G>A (p.Leu24137=)
c.99606G>A (p.Leu33202=)
c.94683G>A (p.Leu31561=)
n.446+13965C>T
n.557C>T
c.98703G>A (p.Leu32901=)
c.72597G>A (p.Leu24199=)
c.72456G>A (p.Leu24152=)
c.98499G>A (p.Leu32833=)
c.93897G>A (p.Leu31299=)
c.93894G>A (p.Leu31298=)
c.90936G>A (p.Leu30312=)
c.72552G>A (p.Leu24184=)
c.94047G>A (p.Leu31349=)
c.94044G>A (p.Leu31348=)
c.93477G>A (p.Leu31159=)
c.90819G>A (p.Leu30273=)
c.90738G>A (p.Leu30246=)
c.72501G>A (p.Leu24167=)
c.62355G>A (p.Leu20785=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178537602A=CA1310515540TTN,TTN-AS1c.91901T= (p.Leu30634=)
c.72986T= (p.Leu24329=)
c.72785T= (p.Leu24262=)
c.72410T= (p.Leu24137=)
c.99605T= (p.Leu33202=)
c.94682T= (p.Leu31561=)
n.446+13966A=
n.558A=
c.98702T= (p.Leu32901=)
c.72596T= (p.Leu24199=)
c.72455T= (p.Leu24152=)
c.98498T= (p.Leu32833=)
c.93896T= (p.Leu31299=)
c.93893T= (p.Leu31298=)
c.90935T= (p.Leu30312=)
c.72551T= (p.Leu24184=)
c.94046T= (p.Leu31349=)
c.94043T= (p.Leu31348=)
c.93476T= (p.Leu31159=)
c.90818T= (p.Leu30273=)
c.90737T= (p.Leu30246=)
c.72500T= (p.Leu24167=)
c.62354T= (p.Leu20785=)
2g.178537602A>CCA349427857TTN,TTN-AS1c.91901T>G (p.Leu30634Arg)
c.72986T>G (p.Leu24329Arg)
c.72785T>G (p.Leu24262Arg)
c.72410T>G (p.Leu24137Arg)
c.99605T>G (p.Leu33202Arg)
c.94682T>G (p.Leu31561Arg)
n.446+13966A>C
n.558A>C
c.98702T>G (p.Leu32901Arg)
c.72596T>G (p.Leu24199Arg)
c.72455T>G (p.Leu24152Arg)
c.98498T>G (p.Leu32833Arg)
c.93896T>G (p.Leu31299Arg)
c.93893T>G (p.Leu31298Arg)
c.90935T>G (p.Leu30312Arg)
c.72551T>G (p.Leu24184Arg)
c.94046T>G (p.Leu31349Arg)
c.94043T>G (p.Leu31348Arg)
c.93476T>G (p.Leu31159Arg)
c.90818T>G (p.Leu30273Arg)
c.90737T>G (p.Leu30246Arg)
c.72500T>G (p.Leu24167Arg)
c.62354T>G (p.Leu20785Arg)
 gnomAD v4
2g.178537602A>GCA1986166TTN,TTN-AS1c.91901T>C (p.Leu30634Pro)
c.72986T>C (p.Leu24329Pro)
c.72785T>C (p.Leu24262Pro)
c.72410T>C (p.Leu24137Pro)
c.99605T>C (p.Leu33202Pro)
c.94682T>C (p.Leu31561Pro)
n.446+13966A>G
n.558A>G
c.98702T>C (p.Leu32901Pro)
c.72596T>C (p.Leu24199Pro)
c.72455T>C (p.Leu24152Pro)
c.98498T>C (p.Leu32833Pro)
c.93896T>C (p.Leu31299Pro)
c.93893T>C (p.Leu31298Pro)
c.90935T>C (p.Leu30312Pro)
c.72551T>C (p.Leu24184Pro)
c.94046T>C (p.Leu31349Pro)
c.94043T>C (p.Leu31348Pro)
c.93476T>C (p.Leu31159Pro)
c.90818T>C (p.Leu30273Pro)
c.90737T>C (p.Leu30246Pro)
c.72500T>C (p.Leu24167Pro)
c.62354T>C (p.Leu20785Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178537602A>TCA349427858TTN,TTN-AS1c.91901T>A (p.Leu30634Gln)
c.72986T>A (p.Leu24329Gln)
c.72785T>A (p.Leu24262Gln)
c.72410T>A (p.Leu24137Gln)
c.99605T>A (p.Leu33202Gln)
c.94682T>A (p.Leu31561Gln)
n.446+13966A>T
n.558A>T
c.98702T>A (p.Leu32901Gln)
c.72596T>A (p.Leu24199Gln)
c.72455T>A (p.Leu24152Gln)
c.98498T>A (p.Leu32833Gln)
c.93896T>A (p.Leu31299Gln)
c.93893T>A (p.Leu31298Gln)
c.90935T>A (p.Leu30312Gln)
c.72551T>A (p.Leu24184Gln)
c.94046T>A (p.Leu31349Gln)
c.94043T>A (p.Leu31348Gln)
c.93476T>A (p.Leu31159Gln)
c.90818T>A (p.Leu30273Gln)
c.90737T>A (p.Leu30246Gln)
c.72500T>A (p.Leu24167Gln)
c.62354T>A (p.Leu20785Gln)
2g.178537603G>ACA430238903TTN,TTN-AS1c.91900C>T (p.Leu30634=)
c.72985C>T (p.Leu24329=)
c.72784C>T (p.Leu24262=)
c.72409C>T (p.Leu24137=)
c.99604C>T (p.Leu33202=)
c.94681C>T (p.Leu31561=)
n.446+13967G>A
n.559G>A
c.98701C>T (p.Leu32901=)
c.72595C>T (p.Leu24199=)
c.72454C>T (p.Leu24152=)
c.98497C>T (p.Leu32833=)
c.93895C>T (p.Leu31299=)
c.93892C>T (p.Leu31298=)
c.90934C>T (p.Leu30312=)
c.72550C>T (p.Leu24184=)
c.94045C>T (p.Leu31349=)
c.94042C>T (p.Leu31348=)
c.93475C>T (p.Leu31159=)
c.90817C>T (p.Leu30273=)
c.90736C>T (p.Leu30246=)
c.72499C>T (p.Leu24167=)
c.62353C>T (p.Leu20785=)
 dbSNP gnomAD v4
2g.178537603G>CCA349427859TTN,TTN-AS1c.91900C>G (p.Leu30634Val)
c.72985C>G (p.Leu24329Val)
c.72784C>G (p.Leu24262Val)
c.72409C>G (p.Leu24137Val)
c.99604C>G (p.Leu33202Val)
c.94681C>G (p.Leu31561Val)
n.446+13967G>C
n.559G>C
c.98701C>G (p.Leu32901Val)
c.72595C>G (p.Leu24199Val)
c.72454C>G (p.Leu24152Val)
c.98497C>G (p.Leu32833Val)
c.93895C>G (p.Leu31299Val)
c.93892C>G (p.Leu31298Val)
c.90934C>G (p.Leu30312Val)
c.72550C>G (p.Leu24184Val)
c.94045C>G (p.Leu31349Val)
c.94042C>G (p.Leu31348Val)
c.93475C>G (p.Leu31159Val)
c.90817C>G (p.Leu30273Val)
c.90736C>G (p.Leu30246Val)
c.72499C>G (p.Leu24167Val)
c.62353C>G (p.Leu20785Val)
2g.178537603G=CA1310515541TTN,TTN-AS1c.91900C= (p.Leu30634=)
c.72985C= (p.Leu24329=)
c.72784C= (p.Leu24262=)
c.72409C= (p.Leu24137=)
c.99604C= (p.Leu33202=)
c.94681C= (p.Leu31561=)
n.446+13967G=
n.559G=
c.98701C= (p.Leu32901=)
c.72595C= (p.Leu24199=)
c.72454C= (p.Leu24152=)
c.98497C= (p.Leu32833=)
c.93895C= (p.Leu31299=)
c.93892C= (p.Leu31298=)
c.90934C= (p.Leu30312=)
c.72550C= (p.Leu24184=)
c.94045C= (p.Leu31349=)
c.94042C= (p.Leu31348=)
c.93475C= (p.Leu31159=)
c.90817C= (p.Leu30273=)
c.90736C= (p.Leu30246=)
c.72499C= (p.Leu24167=)
c.62353C= (p.Leu20785=)
2g.178537603G>TCA349427860TTN,TTN-AS1c.91900C>A (p.Leu30634Met)
c.72985C>A (p.Leu24329Met)
c.72784C>A (p.Leu24262Met)
c.72409C>A (p.Leu24137Met)
c.99604C>A (p.Leu33202Met)
c.94681C>A (p.Leu31561Met)
n.446+13967G>T
n.559G>T
c.98701C>A (p.Leu32901Met)
c.72595C>A (p.Leu24199Met)
c.72454C>A (p.Leu24152Met)
c.98497C>A (p.Leu32833Met)
c.93895C>A (p.Leu31299Met)
c.93892C>A (p.Leu31298Met)
c.90934C>A (p.Leu30312Met)
c.72550C>A (p.Leu24184Met)
c.94045C>A (p.Leu31349Met)
c.94042C>A (p.Leu31348Met)
c.93475C>A (p.Leu31159Met)
c.90817C>A (p.Leu30273Met)
c.90736C>A (p.Leu30246Met)
c.72499C>A (p.Leu24167Met)
c.62353C>A (p.Leu20785Met)
 gnomAD v4
2g.178537604T>ACA430238907TTN,TTN-AS1c.91899A>T (p.Pro30633=)
c.72984A>T (p.Pro24328=)
c.72783A>T (p.Pro24261=)
c.72408A>T (p.Pro24136=)
c.99603A>T (p.Pro33201=)
c.94680A>T (p.Pro31560=)
n.446+13968T>A
n.560T>A
c.98700A>T (p.Pro32900=)
c.72594A>T (p.Pro24198=)
c.72453A>T (p.Pro24151=)
c.98496A>T (p.Pro32832=)
c.93894A>T (p.Pro31298=)
c.93891A>T (p.Pro31297=)
c.90933A>T (p.Pro30311=)
c.72549A>T (p.Pro24183=)
c.94044A>T (p.Pro31348=)
c.94041A>T (p.Pro31347=)
c.93474A>T (p.Pro31158=)
c.90816A>T (p.Pro30272=)
c.90735A>T (p.Pro30245=)
c.72498A>T (p.Pro24166=)
c.62352A>T (p.Pro20784=)
 gnomAD v4
2g.178537604T>CCA430238908TTN,TTN-AS1c.91899A>G (p.Pro30633=)
c.72984A>G (p.Pro24328=)
c.72783A>G (p.Pro24261=)
c.72408A>G (p.Pro24136=)
c.99603A>G (p.Pro33201=)
c.94680A>G (p.Pro31560=)
n.446+13968T>C
n.560T>C
c.98700A>G (p.Pro32900=)
c.72594A>G (p.Pro24198=)
c.72453A>G (p.Pro24151=)
c.98496A>G (p.Pro32832=)
c.93894A>G (p.Pro31298=)
c.93891A>G (p.Pro31297=)
c.90933A>G (p.Pro30311=)
c.72549A>G (p.Pro24183=)
c.94044A>G (p.Pro31348=)
c.94041A>G (p.Pro31347=)
c.93474A>G (p.Pro31158=)
c.90816A>G (p.Pro30272=)
c.90735A>G (p.Pro30245=)
c.72498A>G (p.Pro24166=)
c.62352A>G (p.Pro20784=)
2g.178537604T>GCA60961674TTN,TTN-AS1c.91899A>C (p.Pro30633=)
c.72984A>C (p.Pro24328=)
c.72783A>C (p.Pro24261=)
c.72408A>C (p.Pro24136=)
c.99603A>C (p.Pro33201=)
c.94680A>C (p.Pro31560=)
n.446+13968T>G
n.560T>G
c.98700A>C (p.Pro32900=)
c.72594A>C (p.Pro24198=)
c.72453A>C (p.Pro24151=)
c.98496A>C (p.Pro32832=)
c.93894A>C (p.Pro31298=)
c.93891A>C (p.Pro31297=)
c.90933A>C (p.Pro30311=)
c.72549A>C (p.Pro24183=)
c.94044A>C (p.Pro31348=)
c.94041A>C (p.Pro31347=)
c.93474A>C (p.Pro31158=)
c.90816A>C (p.Pro30272=)
c.90735A>C (p.Pro30245=)
c.72498A>C (p.Pro24166=)
c.62352A>C (p.Pro20784=)
 dbSNP gnomAD v4
2g.178537604T=CA1310515542TTN,TTN-AS1c.91899A= (p.Pro30633=)
c.72984A= (p.Pro24328=)
c.72783A= (p.Pro24261=)
c.72408A= (p.Pro24136=)
c.99603A= (p.Pro33201=)
c.94680A= (p.Pro31560=)
n.446+13968T=
n.560T=
c.98700A= (p.Pro32900=)
c.72594A= (p.Pro24198=)
c.72453A= (p.Pro24151=)
c.98496A= (p.Pro32832=)
c.93894A= (p.Pro31298=)
c.93891A= (p.Pro31297=)
c.90933A= (p.Pro30311=)
c.72549A= (p.Pro24183=)
c.94044A= (p.Pro31348=)
c.94041A= (p.Pro31347=)
c.93474A= (p.Pro31158=)
c.90816A= (p.Pro30272=)
c.90735A= (p.Pro30245=)
c.72498A= (p.Pro24166=)
c.62352A= (p.Pro20784=)
2g.178537605G>ACA349427861TTN,TTN-AS1c.91898C>T (p.Pro30633Leu)
c.72983C>T (p.Pro24328Leu)
c.72782C>T (p.Pro24261Leu)
c.72407C>T (p.Pro24136Leu)
c.99602C>T (p.Pro33201Leu)
c.94679C>T (p.Pro31560Leu)
n.446+13969G>A
n.561G>A
c.98699C>T (p.Pro32900Leu)
c.72593C>T (p.Pro24198Leu)
c.72452C>T (p.Pro24151Leu)
c.98495C>T (p.Pro32832Leu)
c.93893C>T (p.Pro31298Leu)
c.93890C>T (p.Pro31297Leu)
c.90932C>T (p.Pro30311Leu)
c.72548C>T (p.Pro24183Leu)
c.94043C>T (p.Pro31348Leu)
c.94040C>T (p.Pro31347Leu)
c.93473C>T (p.Pro31158Leu)
c.90815C>T (p.Pro30272Leu)
c.90734C>T (p.Pro30245Leu)
c.72497C>T (p.Pro24166Leu)
c.62351C>T (p.Pro20784Leu)
 dbSNP gnomAD v4
2g.178537605G>CCA349427863TTN,TTN-AS1c.91898C>G (p.Pro30633Arg)
c.72983C>G (p.Pro24328Arg)
c.72782C>G (p.Pro24261Arg)
c.72407C>G (p.Pro24136Arg)
c.99602C>G (p.Pro33201Arg)
c.94679C>G (p.Pro31560Arg)
n.446+13969G>C
n.561G>C
c.98699C>G (p.Pro32900Arg)
c.72593C>G (p.Pro24198Arg)
c.72452C>G (p.Pro24151Arg)
c.98495C>G (p.Pro32832Arg)
c.93893C>G (p.Pro31298Arg)
c.93890C>G (p.Pro31297Arg)
c.90932C>G (p.Pro30311Arg)
c.72548C>G (p.Pro24183Arg)
c.94043C>G (p.Pro31348Arg)
c.94040C>G (p.Pro31347Arg)
c.93473C>G (p.Pro31158Arg)
c.90815C>G (p.Pro30272Arg)
c.90734C>G (p.Pro30245Arg)
c.72497C>G (p.Pro24166Arg)
c.62351C>G (p.Pro20784Arg)
2g.178537605G=CA1310515543TTN,TTN-AS1c.91898C= (p.Pro30633=)
c.72983C= (p.Pro24328=)
c.72782C= (p.Pro24261=)
c.72407C= (p.Pro24136=)
c.99602C= (p.Pro33201=)
c.94679C= (p.Pro31560=)
n.446+13969G=
n.561G=
c.98699C= (p.Pro32900=)
c.72593C= (p.Pro24198=)
c.72452C= (p.Pro24151=)
c.98495C= (p.Pro32832=)
c.93893C= (p.Pro31298=)
c.93890C= (p.Pro31297=)
c.90932C= (p.Pro30311=)
c.72548C= (p.Pro24183=)
c.94043C= (p.Pro31348=)
c.94040C= (p.Pro31347=)
c.93473C= (p.Pro31158=)
c.90815C= (p.Pro30272=)
c.90734C= (p.Pro30245=)
c.72497C= (p.Pro24166=)
c.62351C= (p.Pro20784=)
2g.178537605G>TCA349427862TTN,TTN-AS1c.91898C>A (p.Pro30633Gln)
c.72983C>A (p.Pro24328Gln)
c.72782C>A (p.Pro24261Gln)
c.72407C>A (p.Pro24136Gln)
c.99602C>A (p.Pro33201Gln)
c.94679C>A (p.Pro31560Gln)
n.446+13969G>T
n.561G>T
c.98699C>A (p.Pro32900Gln)
c.72593C>A (p.Pro24198Gln)
c.72452C>A (p.Pro24151Gln)
c.98495C>A (p.Pro32832Gln)
c.93893C>A (p.Pro31298Gln)
c.93890C>A (p.Pro31297Gln)
c.90932C>A (p.Pro30311Gln)
c.72548C>A (p.Pro24183Gln)
c.94043C>A (p.Pro31348Gln)
c.94040C>A (p.Pro31347Gln)
c.93473C>A (p.Pro31158Gln)
c.90815C>A (p.Pro30272Gln)
c.90734C>A (p.Pro30245Gln)
c.72497C>A (p.Pro24166Gln)
c.62351C>A (p.Pro20784Gln)
2g.178537606G>ACA349427864TTN,TTN-AS1c.91897C>T (p.Pro30633Ser)
c.72982C>T (p.Pro24328Ser)
c.72781C>T (p.Pro24261Ser)
c.72406C>T (p.Pro24136Ser)
c.99601C>T (p.Pro33201Ser)
c.94678C>T (p.Pro31560Ser)
n.446+13970G>A
n.562G>A
c.98698C>T (p.Pro32900Ser)
c.72592C>T (p.Pro24198Ser)
c.72451C>T (p.Pro24151Ser)
c.98494C>T (p.Pro32832Ser)
c.93892C>T (p.Pro31298Ser)
c.93889C>T (p.Pro31297Ser)
c.90931C>T (p.Pro30311Ser)
c.72547C>T (p.Pro24183Ser)
c.94042C>T (p.Pro31348Ser)
c.94039C>T (p.Pro31347Ser)
c.93472C>T (p.Pro31158Ser)
c.90814C>T (p.Pro30272Ser)
c.90733C>T (p.Pro30245Ser)
c.72496C>T (p.Pro24166Ser)
c.62350C>T (p.Pro20784Ser)
2g.178537606G>CCA349427865TTN,TTN-AS1c.91897C>G (p.Pro30633Ala)
c.72982C>G (p.Pro24328Ala)
c.72781C>G (p.Pro24261Ala)
c.72406C>G (p.Pro24136Ala)
c.99601C>G (p.Pro33201Ala)
c.94678C>G (p.Pro31560Ala)
n.446+13970G>C
n.562G>C
c.98698C>G (p.Pro32900Ala)
c.72592C>G (p.Pro24198Ala)
c.72451C>G (p.Pro24151Ala)
c.98494C>G (p.Pro32832Ala)
c.93892C>G (p.Pro31298Ala)
c.93889C>G (p.Pro31297Ala)
c.90931C>G (p.Pro30311Ala)
c.72547C>G (p.Pro24183Ala)
c.94042C>G (p.Pro31348Ala)
c.94039C>G (p.Pro31347Ala)
c.93472C>G (p.Pro31158Ala)
c.90814C>G (p.Pro30272Ala)
c.90733C>G (p.Pro30245Ala)
c.72496C>G (p.Pro24166Ala)
c.62350C>G (p.Pro20784Ala)
 gnomAD v4
2g.178537606G>TCA349427866TTN,TTN-AS1c.91897C>A (p.Pro30633Thr)
c.72982C>A (p.Pro24328Thr)
c.72781C>A (p.Pro24261Thr)
c.72406C>A (p.Pro24136Thr)
c.99601C>A (p.Pro33201Thr)
c.94678C>A (p.Pro31560Thr)
n.446+13970G>T
n.562G>T
c.98698C>A (p.Pro32900Thr)
c.72592C>A (p.Pro24198Thr)
c.72451C>A (p.Pro24151Thr)
c.98494C>A (p.Pro32832Thr)
c.93892C>A (p.Pro31298Thr)
c.93889C>A (p.Pro31297Thr)
c.90931C>A (p.Pro30311Thr)
c.72547C>A (p.Pro24183Thr)
c.94042C>A (p.Pro31348Thr)
c.94039C>A (p.Pro31347Thr)
c.93472C>A (p.Pro31158Thr)
c.90814C>A (p.Pro30272Thr)
c.90733C>A (p.Pro30245Thr)
c.72496C>A (p.Pro24166Thr)
c.62350C>A (p.Pro20784Thr)
2g.178537607G>ACA430238910TTN,TTN-AS1c.91896C>T (p.Tyr30632=)
c.72981C>T (p.Tyr24327=)
c.72780C>T (p.Tyr24260=)
c.72405C>T (p.Tyr24135=)
c.99600C>T (p.Tyr33200=)
c.94677C>T (p.Tyr31559=)
n.446+13971G>A
n.563G>A
c.98697C>T (p.Tyr32899=)
c.72591C>T (p.Tyr24197=)
c.72450C>T (p.Tyr24150=)
c.98493C>T (p.Tyr32831=)
c.93891C>T (p.Tyr31297=)
c.93888C>T (p.Tyr31296=)
c.90930C>T (p.Tyr30310=)
c.72546C>T (p.Tyr24182=)
c.94041C>T (p.Tyr31347=)
c.94038C>T (p.Tyr31346=)
c.93471C>T (p.Tyr31157=)
c.90813C>T (p.Tyr30271=)
c.90732C>T (p.Tyr30244=)
c.72495C>T (p.Tyr24165=)
c.62349C>T (p.Tyr20783=)
 gnomAD v4
2g.178537607G>CCA349427867TTN,TTN-AS1c.91896C>G (p.Tyr30632Ter)
c.72981C>G (p.Tyr24327Ter)
c.72780C>G (p.Tyr24260Ter)
c.72405C>G (p.Tyr24135Ter)
c.99600C>G (p.Tyr33200Ter)
c.94677C>G (p.Tyr31559Ter)
n.446+13971G>C
n.563G>C
c.98697C>G (p.Tyr32899Ter)
c.72591C>G (p.Tyr24197Ter)
c.72450C>G (p.Tyr24150Ter)
c.98493C>G (p.Tyr32831Ter)
c.93891C>G (p.Tyr31297Ter)
c.93888C>G (p.Tyr31296Ter)
c.90930C>G (p.Tyr30310Ter)
c.72546C>G (p.Tyr24182Ter)
c.94041C>G (p.Tyr31347Ter)
c.94038C>G (p.Tyr31346Ter)
c.93471C>G (p.Tyr31157Ter)
c.90813C>G (p.Tyr30271Ter)
c.90732C>G (p.Tyr30244Ter)
c.72495C>G (p.Tyr24165Ter)
c.62349C>G (p.Tyr20783Ter)
2g.178537607G>TCA349427868TTN,TTN-AS1c.91896C>A (p.Tyr30632Ter)
c.72981C>A (p.Tyr24327Ter)
c.72780C>A (p.Tyr24260Ter)
c.72405C>A (p.Tyr24135Ter)
c.99600C>A (p.Tyr33200Ter)
c.94677C>A (p.Tyr31559Ter)
n.446+13971G>T
n.563G>T
c.98697C>A (p.Tyr32899Ter)
c.72591C>A (p.Tyr24197Ter)
c.72450C>A (p.Tyr24150Ter)
c.98493C>A (p.Tyr32831Ter)
c.93891C>A (p.Tyr31297Ter)
c.93888C>A (p.Tyr31296Ter)
c.90930C>A (p.Tyr30310Ter)
c.72546C>A (p.Tyr24182Ter)
c.94041C>A (p.Tyr31347Ter)
c.94038C>A (p.Tyr31346Ter)
c.93471C>A (p.Tyr31157Ter)
c.90813C>A (p.Tyr30271Ter)
c.90732C>A (p.Tyr30244Ter)
c.72495C>A (p.Tyr24165Ter)
c.62349C>A (p.Tyr20783Ter)
2g.178537608T>ACA349427869TTN,TTN-AS1c.91895A>T (p.Tyr30632Phe)
c.72980A>T (p.Tyr24327Phe)
c.72779A>T (p.Tyr24260Phe)
c.72404A>T (p.Tyr24135Phe)
c.99599A>T (p.Tyr33200Phe)
c.94676A>T (p.Tyr31559Phe)
n.446+13972T>A
n.564T>A
c.98696A>T (p.Tyr32899Phe)
c.72590A>T (p.Tyr24197Phe)
c.72449A>T (p.Tyr24150Phe)
c.98492A>T (p.Tyr32831Phe)
c.93890A>T (p.Tyr31297Phe)
c.93887A>T (p.Tyr31296Phe)
c.90929A>T (p.Tyr30310Phe)
c.72545A>T (p.Tyr24182Phe)
c.94040A>T (p.Tyr31347Phe)
c.94037A>T (p.Tyr31346Phe)
c.93470A>T (p.Tyr31157Phe)
c.90812A>T (p.Tyr30271Phe)
c.90731A>T (p.Tyr30244Phe)
c.72494A>T (p.Tyr24165Phe)
c.62348A>T (p.Tyr20783Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.178537608T>CCA349427870TTN,TTN-AS1c.91895A>G (p.Tyr30632Cys)
c.72980A>G (p.Tyr24327Cys)
c.72779A>G (p.Tyr24260Cys)
c.72404A>G (p.Tyr24135Cys)
c.99599A>G (p.Tyr33200Cys)
c.94676A>G (p.Tyr31559Cys)
n.446+13972T>C
n.564T>C
c.98696A>G (p.Tyr32899Cys)
c.72590A>G (p.Tyr24197Cys)
c.72449A>G (p.Tyr24150Cys)
c.98492A>G (p.Tyr32831Cys)
c.93890A>G (p.Tyr31297Cys)
c.93887A>G (p.Tyr31296Cys)
c.90929A>G (p.Tyr30310Cys)
c.72545A>G (p.Tyr24182Cys)
c.94040A>G (p.Tyr31347Cys)
c.94037A>G (p.Tyr31346Cys)
c.93470A>G (p.Tyr31157Cys)
c.90812A>G (p.Tyr30271Cys)
c.90731A>G (p.Tyr30244Cys)
c.72494A>G (p.Tyr24165Cys)
c.62348A>G (p.Tyr20783Cys)
2g.178537608T>GCA349427871TTN,TTN-AS1c.91895A>C (p.Tyr30632Ser)
c.72980A>C (p.Tyr24327Ser)
c.72779A>C (p.Tyr24260Ser)
c.72404A>C (p.Tyr24135Ser)
c.99599A>C (p.Tyr33200Ser)
c.94676A>C (p.Tyr31559Ser)
n.446+13972T>G
n.564T>G
c.98696A>C (p.Tyr32899Ser)
c.72590A>C (p.Tyr24197Ser)
c.72449A>C (p.Tyr24150Ser)
c.98492A>C (p.Tyr32831Ser)
c.93890A>C (p.Tyr31297Ser)
c.93887A>C (p.Tyr31296Ser)
c.90929A>C (p.Tyr30310Ser)
c.72545A>C (p.Tyr24182Ser)
c.94040A>C (p.Tyr31347Ser)
c.94037A>C (p.Tyr31346Ser)
c.93470A>C (p.Tyr31157Ser)
c.90812A>C (p.Tyr30271Ser)
c.90731A>C (p.Tyr30244Ser)
c.72494A>C (p.Tyr24165Ser)
c.62348A>C (p.Tyr20783Ser)
2g.178537608T=CA1310515544TTN,TTN-AS1c.91895A= (p.Tyr30632=)
c.72980A= (p.Tyr24327=)
c.72779A= (p.Tyr24260=)
c.72404A= (p.Tyr24135=)
c.99599A= (p.Tyr33200=)
c.94676A= (p.Tyr31559=)
n.446+13972T=
n.564T=
c.98696A= (p.Tyr32899=)
c.72590A= (p.Tyr24197=)
c.72449A= (p.Tyr24150=)
c.98492A= (p.Tyr32831=)
c.93890A= (p.Tyr31297=)
c.93887A= (p.Tyr31296=)
c.90929A= (p.Tyr30310=)
c.72545A= (p.Tyr24182=)
c.94040A= (p.Tyr31347=)
c.94037A= (p.Tyr31346=)
c.93470A= (p.Tyr31157=)
c.90812A= (p.Tyr30271=)
c.90731A= (p.Tyr30244=)
c.72494A= (p.Tyr24165=)
c.62348A= (p.Tyr20783=)
2g.178537609A=CA1310515545TTN,TTN-AS1c.91894T= (p.Tyr30632=)
c.72979T= (p.Tyr24327=)
c.72778T= (p.Tyr24260=)
c.72403T= (p.Tyr24135=)
c.99598T= (p.Tyr33200=)
c.94675T= (p.Tyr31559=)
n.446+13973A=
n.565A=
c.98695T= (p.Tyr32899=)
c.72589T= (p.Tyr24197=)
c.72448T= (p.Tyr24150=)
c.98491T= (p.Tyr32831=)
c.93889T= (p.Tyr31297=)
c.93886T= (p.Tyr31296=)
c.90928T= (p.Tyr30310=)
c.72544T= (p.Tyr24182=)
c.94039T= (p.Tyr31347=)
c.94036T= (p.Tyr31346=)
c.93469T= (p.Tyr31157=)
c.90811T= (p.Tyr30271=)
c.90730T= (p.Tyr30244=)
c.72493T= (p.Tyr24165=)
c.62347T= (p.Tyr20783=)
2g.178537609A>CCA349427872TTN,TTN-AS1c.91894T>G (p.Tyr30632Asp)
c.72979T>G (p.Tyr24327Asp)
c.72778T>G (p.Tyr24260Asp)
c.72403T>G (p.Tyr24135Asp)
c.99598T>G (p.Tyr33200Asp)
c.94675T>G (p.Tyr31559Asp)
n.446+13973A>C
n.565A>C
c.98695T>G (p.Tyr32899Asp)
c.72589T>G (p.Tyr24197Asp)
c.72448T>G (p.Tyr24150Asp)
c.98491T>G (p.Tyr32831Asp)
c.93889T>G (p.Tyr31297Asp)
c.93886T>G (p.Tyr31296Asp)
c.90928T>G (p.Tyr30310Asp)
c.72544T>G (p.Tyr24182Asp)
c.94039T>G (p.Tyr31347Asp)
c.94036T>G (p.Tyr31346Asp)
c.93469T>G (p.Tyr31157Asp)
c.90811T>G (p.Tyr30271Asp)
c.90730T>G (p.Tyr30244Asp)
c.72493T>G (p.Tyr24165Asp)
c.62347T>G (p.Tyr20783Asp)
2g.178537609A>GCA349427873TTN,TTN-AS1c.91894T>C (p.Tyr30632His)
c.72979T>C (p.Tyr24327His)
c.72778T>C (p.Tyr24260His)
c.72403T>C (p.Tyr24135His)
c.99598T>C (p.Tyr33200His)
c.94675T>C (p.Tyr31559His)
n.446+13973A>G
n.565A>G
c.98695T>C (p.Tyr32899His)
c.72589T>C (p.Tyr24197His)
c.72448T>C (p.Tyr24150His)
c.98491T>C (p.Tyr32831His)
c.93889T>C (p.Tyr31297His)
c.93886T>C (p.Tyr31296His)
c.90928T>C (p.Tyr30310His)
c.72544T>C (p.Tyr24182His)
c.94039T>C (p.Tyr31347His)
c.94036T>C (p.Tyr31346His)
c.93469T>C (p.Tyr31157His)
c.90811T>C (p.Tyr30271His)
c.90730T>C (p.Tyr30244His)
c.72493T>C (p.Tyr24165His)
c.62347T>C (p.Tyr20783His)
 dbSNP
2g.178537609A>TCA349427874TTN,TTN-AS1c.91894T>A (p.Tyr30632Asn)
c.72979T>A (p.Tyr24327Asn)
c.72778T>A (p.Tyr24260Asn)
c.72403T>A (p.Tyr24135Asn)
c.99598T>A (p.Tyr33200Asn)
c.94675T>A (p.Tyr31559Asn)
n.446+13973A>T
n.565A>T
c.98695T>A (p.Tyr32899Asn)
c.72589T>A (p.Tyr24197Asn)
c.72448T>A (p.Tyr24150Asn)
c.98491T>A (p.Tyr32831Asn)
c.93889T>A (p.Tyr31297Asn)
c.93886T>A (p.Tyr31296Asn)
c.90928T>A (p.Tyr30310Asn)
c.72544T>A (p.Tyr24182Asn)
c.94039T>A (p.Tyr31347Asn)
c.94036T>A (p.Tyr31346Asn)
c.93469T>A (p.Tyr31157Asn)
c.90811T>A (p.Tyr30271Asn)
c.90730T>A (p.Tyr30244Asn)
c.72493T>A (p.Tyr24165Asn)
c.62347T>A (p.Tyr20783Asn)
2g.178537610A>CCA430238920TTN,TTN-AS1c.91893T>G (p.Gly30631=)
c.72978T>G (p.Gly24326=)
c.72777T>G (p.Gly24259=)
c.72402T>G (p.Gly24134=)
c.99597T>G (p.Gly33199=)
c.94674T>G (p.Gly31558=)
n.446+13974A>C
n.566A>C
c.98694T>G (p.Gly32898=)
c.72588T>G (p.Gly24196=)
c.72447T>G (p.Gly24149=)
c.98490T>G (p.Gly32830=)
c.93888T>G (p.Gly31296=)
c.93885T>G (p.Gly31295=)
c.90927T>G (p.Gly30309=)
c.72543T>G (p.Gly24181=)
c.94038T>G (p.Gly31346=)
c.94035T>G (p.Gly31345=)
c.93468T>G (p.Gly31156=)
c.90810T>G (p.Gly30270=)
c.90729T>G (p.Gly30243=)
c.72492T>G (p.Gly24164=)
c.62346T>G (p.Gly20782=)
2g.178537610A>GCA430238917TTN,TTN-AS1c.91893T>C (p.Gly30631=)
c.72978T>C (p.Gly24326=)
c.72777T>C (p.Gly24259=)
c.72402T>C (p.Gly24134=)
c.99597T>C (p.Gly33199=)
c.94674T>C (p.Gly31558=)
n.446+13974A>G
n.566A>G
c.98694T>C (p.Gly32898=)
c.72588T>C (p.Gly24196=)
c.72447T>C (p.Gly24149=)
c.98490T>C (p.Gly32830=)
c.93888T>C (p.Gly31296=)
c.93885T>C (p.Gly31295=)
c.90927T>C (p.Gly30309=)
c.72543T>C (p.Gly24181=)
c.94038T>C (p.Gly31346=)
c.94035T>C (p.Gly31345=)
c.93468T>C (p.Gly31156=)
c.90810T>C (p.Gly30270=)
c.90729T>C (p.Gly30243=)
c.72492T>C (p.Gly24164=)
c.62346T>C (p.Gly20782=)
2g.178537610A>TCA430238918TTN,TTN-AS1c.91893T>A (p.Gly30631=)
c.72978T>A (p.Gly24326=)
c.72777T>A (p.Gly24259=)
c.72402T>A (p.Gly24134=)
c.99597T>A (p.Gly33199=)
c.94674T>A (p.Gly31558=)
n.446+13974A>T
n.566A>T
c.98694T>A (p.Gly32898=)
c.72588T>A (p.Gly24196=)
c.72447T>A (p.Gly24149=)
c.98490T>A (p.Gly32830=)
c.93888T>A (p.Gly31296=)
c.93885T>A (p.Gly31295=)
c.90927T>A (p.Gly30309=)
c.72543T>A (p.Gly24181=)
c.94038T>A (p.Gly31346=)
c.94035T>A (p.Gly31345=)
c.93468T>A (p.Gly31156=)
c.90810T>A (p.Gly30270=)
c.90729T>A (p.Gly30243=)
c.72492T>A (p.Gly24164=)
c.62346T>A (p.Gly20782=)
2g.178537611C>ACA349427877TTN,TTN-AS1c.91892G>T (p.Gly30631Val)
c.72977G>T (p.Gly24326Val)
c.72776G>T (p.Gly24259Val)
c.72401G>T (p.Gly24134Val)
c.99596G>T (p.Gly33199Val)
c.94673G>T (p.Gly31558Val)
n.446+13975C>A
n.567C>A
c.98693G>T (p.Gly32898Val)
c.72587G>T (p.Gly24196Val)
c.72446G>T (p.Gly24149Val)
c.98489G>T (p.Gly32830Val)
c.93887G>T (p.Gly31296Val)
c.93884G>T (p.Gly31295Val)
c.90926G>T (p.Gly30309Val)
c.72542G>T (p.Gly24181Val)
c.94037G>T (p.Gly31346Val)
c.94034G>T (p.Gly31345Val)
c.93467G>T (p.Gly31156Val)
c.90809G>T (p.Gly30270Val)
c.90728G>T (p.Gly30243Val)
c.72491G>T (p.Gly24164Val)
c.62345G>T (p.Gly20782Val)
2g.178537611C=CA1310515547TTN,TTN-AS1c.91892G= (p.Gly30631=)
c.72977G= (p.Gly24326=)
c.72776G= (p.Gly24259=)
c.72401G= (p.Gly24134=)
c.99596G= (p.Gly33199=)
c.94673G= (p.Gly31558=)
n.446+13975C=
n.567C=
c.98693G= (p.Gly32898=)
c.72587G= (p.Gly24196=)
c.72446G= (p.Gly24149=)
c.98489G= (p.Gly32830=)
c.93887G= (p.Gly31296=)
c.93884G= (p.Gly31295=)
c.90926G= (p.Gly30309=)
c.72542G= (p.Gly24181=)
c.94037G= (p.Gly31346=)
c.94034G= (p.Gly31345=)
c.93467G= (p.Gly31156=)
c.90809G= (p.Gly30270=)
c.90728G= (p.Gly30243=)
c.72491G= (p.Gly24164=)
c.62345G= (p.Gly20782=)
2g.178537611C>GCA349427876TTN,TTN-AS1c.91892G>C (p.Gly30631Ala)
c.72977G>C (p.Gly24326Ala)
c.72776G>C (p.Gly24259Ala)
c.72401G>C (p.Gly24134Ala)
c.99596G>C (p.Gly33199Ala)
c.94673G>C (p.Gly31558Ala)
n.446+13975C>G
n.567C>G
c.98693G>C (p.Gly32898Ala)
c.72587G>C (p.Gly24196Ala)
c.72446G>C (p.Gly24149Ala)
c.98489G>C (p.Gly32830Ala)
c.93887G>C (p.Gly31296Ala)
c.93884G>C (p.Gly31295Ala)
c.90926G>C (p.Gly30309Ala)
c.72542G>C (p.Gly24181Ala)
c.94037G>C (p.Gly31346Ala)
c.94034G>C (p.Gly31345Ala)
c.93467G>C (p.Gly31156Ala)
c.90809G>C (p.Gly30270Ala)
c.90728G>C (p.Gly30243Ala)
c.72491G>C (p.Gly24164Ala)
c.62345G>C (p.Gly20782Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.178537611C>TCA349427875TTN,TTN-AS1c.91892G>A (p.Gly30631Asp)
c.72977G>A (p.Gly24326Asp)
c.72776G>A (p.Gly24259Asp)
c.72401G>A (p.Gly24134Asp)
c.99596G>A (p.Gly33199Asp)
c.94673G>A (p.Gly31558Asp)
n.446+13975C>T
n.567C>T
c.98693G>A (p.Gly32898Asp)
c.72587G>A (p.Gly24196Asp)
c.72446G>A (p.Gly24149Asp)
c.98489G>A (p.Gly32830Asp)
c.93887G>A (p.Gly31296Asp)
c.93884G>A (p.Gly31295Asp)
c.90926G>A (p.Gly30309Asp)
c.72542G>A (p.Gly24181Asp)
c.94037G>A (p.Gly31346Asp)
c.94034G>A (p.Gly31345Asp)
c.93467G>A (p.Gly31156Asp)
c.90809G>A (p.Gly30270Asp)
c.90728G>A (p.Gly30243Asp)
c.72491G>A (p.Gly24164Asp)
c.62345G>A (p.Gly20782Asp)
 dbSNP gnomAD v4
2g.178537611_178537619delinsCCAGGATGGCA1310515546TTN,TTN-AS1c.91884_91892delinsCCATCCTGG (p.Phe30628=)
c.72969_72977delinsCCATCCTGG (p.Phe24323=)
c.72768_72776delinsCCATCCTGG (p.Phe24256=)
c.72393_72401delinsCCATCCTGG (p.Phe24131=)
c.99588_99596delinsCCATCCTGG (p.Phe33196=)
c.94665_94673delinsCCATCCTGG (p.Phe31555=)
n.446+13975_446+13983delinsCCAGGATGG
n.567_575delinsCCAGGATGG
c.98685_98693delinsCCATCCTGG (p.Phe32895=)
c.72579_72587delinsCCATCCTGG (p.Phe24193=)
c.72438_72446delinsCCATCCTGG (p.Phe24146=)
c.98481_98489delinsCCATCCTGG (p.Phe32827=)
c.93879_93887delinsCCATCCTGG (p.Phe31293=)
c.93876_93884delinsCCATCCTGG (p.Phe31292=)
c.90918_90926delinsCCATCCTGG (p.Phe30306=)
c.72534_72542delinsCCATCCTGG (p.Phe24178=)
c.94029_94037delinsCCATCCTGG (p.Phe31343=)
c.94026_94034delinsCCATCCTGG (p.Phe31342=)
c.93459_93467delinsCCATCCTGG (p.Phe31153=)
c.90801_90809delinsCCATCCTGG (p.Phe30267=)
c.90720_90728delinsCCATCCTGG (p.Phe30240=)
c.72483_72491delinsCCATCCTGG (p.Phe24161=)
c.62337_62345delinsCCATCCTGG (p.Phe20779=)
2g.178537612C>ACA349427878TTN,TTN-AS1c.91891G>T (p.Gly30631Cys)
c.72976G>T (p.Gly24326Cys)
c.72775G>T (p.Gly24259Cys)
c.72400G>T (p.Gly24134Cys)
c.99595G>T (p.Gly33199Cys)
c.94672G>T (p.Gly31558Cys)
n.446+13976C>A
n.568C>A
c.98692G>T (p.Gly32898Cys)
c.72586G>T (p.Gly24196Cys)
c.72445G>T (p.Gly24149Cys)
c.98488G>T (p.Gly32830Cys)
c.93886G>T (p.Gly31296Cys)
c.93883G>T (p.Gly31295Cys)
c.90925G>T (p.Gly30309Cys)
c.72541G>T (p.Gly24181Cys)
c.94036G>T (p.Gly31346Cys)
c.94033G>T (p.Gly31345Cys)
c.93466G>T (p.Gly31156Cys)
c.90808G>T (p.Gly30270Cys)
c.90727G>T (p.Gly30243Cys)
c.72490G>T (p.Gly24164Cys)
c.62344G>T (p.Gly20782Cys)
2g.178537612C>GCA349427880TTN,TTN-AS1c.91891G>C (p.Gly30631Arg)
c.72976G>C (p.Gly24326Arg)
c.72775G>C (p.Gly24259Arg)
c.72400G>C (p.Gly24134Arg)
c.99595G>C (p.Gly33199Arg)
c.94672G>C (p.Gly31558Arg)
n.446+13976C>G
n.568C>G
c.98692G>C (p.Gly32898Arg)
c.72586G>C (p.Gly24196Arg)
c.72445G>C (p.Gly24149Arg)
c.98488G>C (p.Gly32830Arg)
c.93886G>C (p.Gly31296Arg)
c.93883G>C (p.Gly31295Arg)
c.90925G>C (p.Gly30309Arg)
c.72541G>C (p.Gly24181Arg)
c.94036G>C (p.Gly31346Arg)
c.94033G>C (p.Gly31345Arg)
c.93466G>C (p.Gly31156Arg)
c.90808G>C (p.Gly30270Arg)
c.90727G>C (p.Gly30243Arg)
c.72490G>C (p.Gly24164Arg)
c.62344G>C (p.Gly20782Arg)
2g.178537612C>TCA349427879TTN,TTN-AS1c.91891G>A (p.Gly30631Ser)
c.72976G>A (p.Gly24326Ser)
c.72775G>A (p.Gly24259Ser)
c.72400G>A (p.Gly24134Ser)
c.99595G>A (p.Gly33199Ser)
c.94672G>A (p.Gly31558Ser)
n.446+13976C>T
n.568C>T
c.98692G>A (p.Gly32898Ser)
c.72586G>A (p.Gly24196Ser)
c.72445G>A (p.Gly24149Ser)
c.98488G>A (p.Gly32830Ser)
c.93886G>A (p.Gly31296Ser)
c.93883G>A (p.Gly31295Ser)
c.90925G>A (p.Gly30309Ser)
c.72541G>A (p.Gly24181Ser)
c.94036G>A (p.Gly31346Ser)
c.94033G>A (p.Gly31345Ser)
c.93466G>A (p.Gly31156Ser)
c.90808G>A (p.Gly30270Ser)
c.90727G>A (p.Gly30243Ser)
c.72490G>A (p.Gly24164Ser)
c.62344G>A (p.Gly20782Ser)
 gnomAD v4
2g.178537612_178537619delCA658657126TTN,TTN-AS1c.91884_91891del (p.Phe30628LeufsTer?)
c.72969_72976del (p.Phe24323LeufsTer?)
c.72768_72775del (p.Phe24256LeufsTer?)
c.72393_72400del (p.Phe24131LeufsTer?)
c.99588_99595del (p.Phe33196LeufsTer?)
c.94665_94672del (p.Phe31555LeufsTer?)
n.446+13976_446+13983del
n.568_575del
c.98685_98692del (p.Phe32895LeufsTer?)
c.72579_72586del (p.Phe24193LeufsTer?)
c.72438_72445del (p.Phe24146LeufsTer?)
c.98481_98488del (p.Phe32827LeufsTer?)
c.93879_93886del (p.Phe31293LeufsTer?)
c.93876_93883del (p.Phe31292LeufsTer?)
c.90918_90925del (p.Phe30306LeufsTer?)
c.72534_72541del (p.Phe24178LeufsTer?)
c.94029_94036del (p.Phe31343LeufsTer?)
c.94026_94033del (p.Phe31342LeufsTer?)
c.93459_93466del (p.Phe31153LeufsTer?)
c.90801_90808del (p.Phe30267LeufsTer?)
c.90720_90727del (p.Phe30240LeufsTer?)
c.72483_72490del (p.Phe24161LeufsTer?)
c.62337_62344del (p.Phe20779LeufsTer?)
 ClinVar dbSNP
2g.178537613A>CCA430238926TTN,TTN-AS1c.91890T>G (p.Pro30630=)
c.72975T>G (p.Pro24325=)
c.72774T>G (p.Pro24258=)
c.72399T>G (p.Pro24133=)
c.99594T>G (p.Pro33198=)
c.94671T>G (p.Pro31557=)
n.446+13977A>C
n.569A>C
c.98691T>G (p.Pro32897=)
c.72585T>G (p.Pro24195=)
c.72444T>G (p.Pro24148=)
c.98487T>G (p.Pro32829=)
c.93885T>G (p.Pro31295=)
c.93882T>G (p.Pro31294=)
c.90924T>G (p.Pro30308=)
c.72540T>G (p.Pro24180=)
c.94035T>G (p.Pro31345=)
c.94032T>G (p.Pro31344=)
c.93465T>G (p.Pro31155=)
c.90807T>G (p.Pro30269=)
c.90726T>G (p.Pro30242=)
c.72489T>G (p.Pro24163=)
c.62343T>G (p.Pro20781=)
2g.178537613A>GCA430238927TTN,TTN-AS1c.91890T>C (p.Pro30630=)
c.72975T>C (p.Pro24325=)
c.72774T>C (p.Pro24258=)
c.72399T>C (p.Pro24133=)
c.99594T>C (p.Pro33198=)
c.94671T>C (p.Pro31557=)
n.446+13977A>G
n.569A>G
c.98691T>C (p.Pro32897=)
c.72585T>C (p.Pro24195=)
c.72444T>C (p.Pro24148=)
c.98487T>C (p.Pro32829=)
c.93885T>C (p.Pro31295=)
c.93882T>C (p.Pro31294=)
c.90924T>C (p.Pro30308=)
c.72540T>C (p.Pro24180=)
c.94035T>C (p.Pro31345=)
c.94032T>C (p.Pro31344=)
c.93465T>C (p.Pro31155=)
c.90807T>C (p.Pro30269=)
c.90726T>C (p.Pro30242=)
c.72489T>C (p.Pro24163=)
c.62343T>C (p.Pro20781=)
 gnomAD v4
2g.178537613A>TCA430238928TTN,TTN-AS1c.91890T>A (p.Pro30630=)
c.72975T>A (p.Pro24325=)
c.72774T>A (p.Pro24258=)
c.72399T>A (p.Pro24133=)
c.99594T>A (p.Pro33198=)
c.94671T>A (p.Pro31557=)
n.446+13977A>T
n.569A>T
c.98691T>A (p.Pro32897=)
c.72585T>A (p.Pro24195=)
c.72444T>A (p.Pro24148=)
c.98487T>A (p.Pro32829=)
c.93885T>A (p.Pro31295=)
c.93882T>A (p.Pro31294=)
c.90924T>A (p.Pro30308=)
c.72540T>A (p.Pro24180=)
c.94035T>A (p.Pro31345=)
c.94032T>A (p.Pro31344=)
c.93465T>A (p.Pro31155=)
c.90807T>A (p.Pro30269=)
c.90726T>A (p.Pro30242=)
c.72489T>A (p.Pro24163=)
c.62343T>A (p.Pro20781=)
2g.178537613_178537614delinsAGCA1310515551TTN,TTN-AS1c.91889_91890delinsCT (p.Pro30630=)
c.72974_72975delinsCT (p.Pro24325=)
c.72773_72774delinsCT (p.Pro24258=)
c.72398_72399delinsCT (p.Pro24133=)
c.99593_99594delinsCT (p.Pro33198=)
c.94670_94671delinsCT (p.Pro31557=)
n.446+13977_446+13978delinsAG
n.569_570delinsAG
c.98690_98691delinsCT (p.Pro32897=)
c.72584_72585delinsCT (p.Pro24195=)
c.72443_72444delinsCT (p.Pro24148=)
c.98486_98487delinsCT (p.Pro32829=)
c.93884_93885delinsCT (p.Pro31295=)
c.93881_93882delinsCT (p.Pro31294=)
c.90923_90924delinsCT (p.Pro30308=)
c.72539_72540delinsCT (p.Pro24180=)
c.94034_94035delinsCT (p.Pro31345=)
c.94031_94032delinsCT (p.Pro31344=)
c.93464_93465delinsCT (p.Pro31155=)
c.90806_90807delinsCT (p.Pro30269=)
c.90725_90726delinsCT (p.Pro30242=)
c.72488_72489delinsCT (p.Pro24163=)
c.62342_62343delinsCT (p.Pro20781=)
2g.178537614G>ACA349427881TTN,TTN-AS1c.91889C>T (p.Pro30630Leu)
c.72974C>T (p.Pro24325Leu)
c.72773C>T (p.Pro24258Leu)
c.72398C>T (p.Pro24133Leu)
c.99593C>T (p.Pro33198Leu)
c.94670C>T (p.Pro31557Leu)
n.446+13978G>A
n.570G>A
c.98690C>T (p.Pro32897Leu)
c.72584C>T (p.Pro24195Leu)
c.72443C>T (p.Pro24148Leu)
c.98486C>T (p.Pro32829Leu)
c.93884C>T (p.Pro31295Leu)
c.93881C>T (p.Pro31294Leu)
c.90923C>T (p.Pro30308Leu)
c.72539C>T (p.Pro24180Leu)
c.94034C>T (p.Pro31345Leu)
c.94031C>T (p.Pro31344Leu)
c.93464C>T (p.Pro31155Leu)
c.90806C>T (p.Pro30269Leu)
c.90725C>T (p.Pro30242Leu)
c.72488C>T (p.Pro24163Leu)
c.62342C>T (p.Pro20781Leu)
2g.178537614G>CCA349427883TTN,TTN-AS1c.91889C>G (p.Pro30630Arg)
c.72974C>G (p.Pro24325Arg)
c.72773C>G (p.Pro24258Arg)
c.72398C>G (p.Pro24133Arg)
c.99593C>G (p.Pro33198Arg)
c.94670C>G (p.Pro31557Arg)
n.446+13978G>C
n.570G>C
c.98690C>G (p.Pro32897Arg)
c.72584C>G (p.Pro24195Arg)
c.72443C>G (p.Pro24148Arg)
c.98486C>G (p.Pro32829Arg)
c.93884C>G (p.Pro31295Arg)
c.93881C>G (p.Pro31294Arg)
c.90923C>G (p.Pro30308Arg)
c.72539C>G (p.Pro24180Arg)
c.94034C>G (p.Pro31345Arg)
c.94031C>G (p.Pro31344Arg)
c.93464C>G (p.Pro31155Arg)
c.90806C>G (p.Pro30269Arg)
c.90725C>G (p.Pro30242Arg)
c.72488C>G (p.Pro24163Arg)
c.62342C>G (p.Pro20781Arg)
2g.178537614G>TCA349427882TTN,TTN-AS1c.91889C>A (p.Pro30630His)
c.72974C>A (p.Pro24325His)
c.72773C>A (p.Pro24258His)
c.72398C>A (p.Pro24133His)
c.99593C>A (p.Pro33198His)
c.94670C>A (p.Pro31557His)
n.446+13978G>T
n.570G>T
c.98690C>A (p.Pro32897His)
c.72584C>A (p.Pro24195His)
c.72443C>A (p.Pro24148His)
c.98486C>A (p.Pro32829His)
c.93884C>A (p.Pro31295His)
c.93881C>A (p.Pro31294His)
c.90923C>A (p.Pro30308His)
c.72539C>A (p.Pro24180His)
c.94034C>A (p.Pro31345His)
c.94031C>A (p.Pro31344His)
c.93464C>A (p.Pro31155His)
c.90806C>A (p.Pro30269His)
c.90725C>A (p.Pro30242His)
c.72488C>A (p.Pro24163His)
c.62342C>A (p.Pro20781His)
2g.178537615delCA1310515553TTN,TTN-AS1c.91889del (p.Pro30630LeufsTer5)
c.72974del (p.Pro24325LeufsTer5)
c.72773del (p.Pro24258LeufsTer5)
c.72398del (p.Pro24133LeufsTer5)
c.99593del (p.Pro33198LeufsTer5)
c.94670del (p.Pro31557LeufsTer5)
n.446+13979del
n.571del
c.98690del (p.Pro32897LeufsTer5)
c.72584del (p.Pro24195LeufsTer5)
c.72443del (p.Pro24148LeufsTer5)
c.98486del (p.Pro32829LeufsTer5)
c.93884del (p.Pro31295LeufsTer5)
c.93881del (p.Pro31294LeufsTer5)
c.90923del (p.Pro30308LeufsTer5)
c.72539del (p.Pro24180LeufsTer5)
c.94034del (p.Pro31345LeufsTer5)
c.94031del (p.Pro31344LeufsTer5)
c.93464del (p.Pro31155LeufsTer5)
c.90806del (p.Pro30269LeufsTer5)
c.90725del (p.Pro30242LeufsTer5)
c.72488del (p.Pro24163LeufsTer5)
c.62342del (p.Pro20781LeufsTer5)
 dbSNP
2g.178537615G>ACA349427884TTN,TTN-AS1c.91888C>T (p.Pro30630Ser)
c.72973C>T (p.Pro24325Ser)
c.72772C>T (p.Pro24258Ser)
c.72397C>T (p.Pro24133Ser)
c.99592C>T (p.Pro33198Ser)
c.94669C>T (p.Pro31557Ser)
n.446+13979G>A
n.571G>A
c.98689C>T (p.Pro32897Ser)
c.72583C>T (p.Pro24195Ser)
c.72442C>T (p.Pro24148Ser)
c.98485C>T (p.Pro32829Ser)
c.93883C>T (p.Pro31295Ser)
c.93880C>T (p.Pro31294Ser)
c.90922C>T (p.Pro30308Ser)
c.72538C>T (p.Pro24180Ser)
c.94033C>T (p.Pro31345Ser)
c.94030C>T (p.Pro31344Ser)
c.93463C>T (p.Pro31155Ser)
c.90805C>T (p.Pro30269Ser)
c.90724C>T (p.Pro30242Ser)
c.72487C>T (p.Pro24163Ser)
c.62341C>T (p.Pro20781Ser)
2g.178537615G>CCA349427885TTN,TTN-AS1c.91888C>G (p.Pro30630Ala)
c.72973C>G (p.Pro24325Ala)
c.72772C>G (p.Pro24258Ala)
c.72397C>G (p.Pro24133Ala)
c.99592C>G (p.Pro33198Ala)
c.94669C>G (p.Pro31557Ala)
n.446+13979G>C
n.571G>C
c.98689C>G (p.Pro32897Ala)
c.72583C>G (p.Pro24195Ala)
c.72442C>G (p.Pro24148Ala)
c.98485C>G (p.Pro32829Ala)
c.93883C>G (p.Pro31295Ala)
c.93880C>G (p.Pro31294Ala)
c.90922C>G (p.Pro30308Ala)
c.72538C>G (p.Pro24180Ala)
c.94033C>G (p.Pro31345Ala)
c.94030C>G (p.Pro31344Ala)
c.93463C>G (p.Pro31155Ala)
c.90805C>G (p.Pro30269Ala)
c.90724C>G (p.Pro30242Ala)
c.72487C>G (p.Pro24163Ala)
c.62341C>G (p.Pro20781Ala)
2g.178537615G>TCA349427886TTN,TTN-AS1c.91888C>A (p.Pro30630Thr)
c.72973C>A (p.Pro24325Thr)
c.72772C>A (p.Pro24258Thr)
c.72397C>A (p.Pro24133Thr)
c.99592C>A (p.Pro33198Thr)
c.94669C>A (p.Pro31557Thr)
n.446+13979G>T
n.571G>T
c.98689C>A (p.Pro32897Thr)
c.72583C>A (p.Pro24195Thr)
c.72442C>A (p.Pro24148Thr)
c.98485C>A (p.Pro32829Thr)
c.93883C>A (p.Pro31295Thr)
c.93880C>A (p.Pro31294Thr)
c.90922C>A (p.Pro30308Thr)
c.72538C>A (p.Pro24180Thr)
c.94033C>A (p.Pro31345Thr)
c.94030C>A (p.Pro31344Thr)
c.93463C>A (p.Pro31155Thr)
c.90805C>A (p.Pro30269Thr)
c.90724C>A (p.Pro30242Thr)
c.72487C>A (p.Pro24163Thr)
c.62341C>A (p.Pro20781Thr)
2g.178537616A=CA1310515554TTN,TTN-AS1c.91887T= (p.His30629=)
c.72972T= (p.His24324=)
c.72771T= (p.His24257=)
c.72396T= (p.His24132=)
c.99591T= (p.His33197=)
c.94668T= (p.His31556=)
n.446+13980A=
n.572A=
c.98688T= (p.His32896=)
c.72582T= (p.His24194=)
c.72441T= (p.His24147=)
c.98484T= (p.His32828=)
c.93882T= (p.His31294=)
c.93879T= (p.His31293=)
c.90921T= (p.His30307=)
c.72537T= (p.His24179=)
c.94032T= (p.His31344=)
c.94029T= (p.His31343=)
c.93462T= (p.His31154=)
c.90804T= (p.His30268=)
c.90723T= (p.His30241=)
c.72486T= (p.His24162=)
c.62340T= (p.His20780=)
2g.178537616A>CCA349427887TTN,TTN-AS1c.91887T>G (p.His30629Gln)
c.72972T>G (p.His24324Gln)
c.72771T>G (p.His24257Gln)
c.72396T>G (p.His24132Gln)
c.99591T>G (p.His33197Gln)
c.94668T>G (p.His31556Gln)
n.446+13980A>C
n.572A>C
c.98688T>G (p.His32896Gln)
c.72582T>G (p.His24194Gln)
c.72441T>G (p.His24147Gln)
c.98484T>G (p.His32828Gln)
c.93882T>G (p.His31294Gln)
c.93879T>G (p.His31293Gln)
c.90921T>G (p.His30307Gln)
c.72537T>G (p.His24179Gln)
c.94032T>G (p.His31344Gln)
c.94029T>G (p.His31343Gln)
c.93462T>G (p.His31154Gln)
c.90804T>G (p.His30268Gln)
c.90723T>G (p.His30241Gln)
c.72486T>G (p.His24162Gln)
c.62340T>G (p.His20780Gln)
2g.178537616A>GCA430238932TTN,TTN-AS1c.91887T>C (p.His30629=)
c.72972T>C (p.His24324=)
c.72771T>C (p.His24257=)
c.72396T>C (p.His24132=)
c.99591T>C (p.His33197=)
c.94668T>C (p.His31556=)
n.446+13980A>G
n.572A>G
c.98688T>C (p.His32896=)
c.72582T>C (p.His24194=)
c.72441T>C (p.His24147=)
c.98484T>C (p.His32828=)
c.93882T>C (p.His31294=)
c.93879T>C (p.His31293=)
c.90921T>C (p.His30307=)
c.72537T>C (p.His24179=)
c.94032T>C (p.His31344=)
c.94029T>C (p.His31343=)
c.93462T>C (p.His31154=)
c.90804T>C (p.His30268=)
c.90723T>C (p.His30241=)
c.72486T>C (p.His24162=)
c.62340T>C (p.His20780=)
 dbSNP gnomAD v2 gnomAD v4
2g.178537616A>TCA349427888TTN,TTN-AS1c.91887T>A (p.His30629Gln)
c.72972T>A (p.His24324Gln)
c.72771T>A (p.His24257Gln)
c.72396T>A (p.His24132Gln)
c.99591T>A (p.His33197Gln)
c.94668T>A (p.His31556Gln)
n.446+13980A>T
n.572A>T
c.98688T>A (p.His32896Gln)
c.72582T>A (p.His24194Gln)
c.72441T>A (p.His24147Gln)
c.98484T>A (p.His32828Gln)
c.93882T>A (p.His31294Gln)
c.93879T>A (p.His31293Gln)
c.90921T>A (p.His30307Gln)
c.72537T>A (p.His24179Gln)
c.94032T>A (p.His31344Gln)
c.94029T>A (p.His31343Gln)
c.93462T>A (p.His31154Gln)
c.90804T>A (p.His30268Gln)
c.90723T>A (p.His30241Gln)
c.72486T>A (p.His24162Gln)
c.62340T>A (p.His20780Gln)
2g.178537617T>ACA349427889TTN,TTN-AS1c.91886A>T (p.His30629Leu)
c.72971A>T (p.His24324Leu)
c.72770A>T (p.His24257Leu)
c.72395A>T (p.His24132Leu)
c.99590A>T (p.His33197Leu)
c.94667A>T (p.His31556Leu)
n.446+13981T>A
n.573T>A
c.98687A>T (p.His32896Leu)
c.72581A>T (p.His24194Leu)
c.72440A>T (p.His24147Leu)
c.98483A>T (p.His32828Leu)
c.93881A>T (p.His31294Leu)
c.93878A>T (p.His31293Leu)
c.90920A>T (p.His30307Leu)
c.72536A>T (p.His24179Leu)
c.94031A>T (p.His31344Leu)
c.94028A>T (p.His31343Leu)
c.93461A>T (p.His31154Leu)
c.90803A>T (p.His30268Leu)
c.90722A>T (p.His30241Leu)
c.72485A>T (p.His24162Leu)
c.62339A>T (p.His20780Leu)
2g.178537617T>CCA349427890TTN,TTN-AS1c.91886A>G (p.His30629Arg)
c.72971A>G (p.His24324Arg)
c.72770A>G (p.His24257Arg)
c.72395A>G (p.His24132Arg)
c.99590A>G (p.His33197Arg)
c.94667A>G (p.His31556Arg)
n.446+13981T>C
n.573T>C
c.98687A>G (p.His32896Arg)
c.72581A>G (p.His24194Arg)
c.72440A>G (p.His24147Arg)
c.98483A>G (p.His32828Arg)
c.93881A>G (p.His31294Arg)
c.93878A>G (p.His31293Arg)
c.90920A>G (p.His30307Arg)
c.72536A>G (p.His24179Arg)
c.94031A>G (p.His31344Arg)
c.94028A>G (p.His31343Arg)
c.93461A>G (p.His31154Arg)
c.90803A>G (p.His30268Arg)
c.90722A>G (p.His30241Arg)
c.72485A>G (p.His24162Arg)
c.62339A>G (p.His20780Arg)
2g.178537617T>GCA349427891TTN,TTN-AS1c.91886A>C (p.His30629Pro)
c.72971A>C (p.His24324Pro)
c.72770A>C (p.His24257Pro)
c.72395A>C (p.His24132Pro)
c.99590A>C (p.His33197Pro)
c.94667A>C (p.His31556Pro)
n.446+13981T>G
n.573T>G
c.98687A>C (p.His32896Pro)
c.72581A>C (p.His24194Pro)
c.72440A>C (p.His24147Pro)
c.98483A>C (p.His32828Pro)
c.93881A>C (p.His31294Pro)
c.93878A>C (p.His31293Pro)
c.90920A>C (p.His30307Pro)
c.72536A>C (p.His24179Pro)
c.94031A>C (p.His31344Pro)
c.94028A>C (p.His31343Pro)
c.93461A>C (p.His31154Pro)
c.90803A>C (p.His30268Pro)
c.90722A>C (p.His30241Pro)
c.72485A>C (p.His24162Pro)
c.62339A>C (p.His20780Pro)
2g.178537618G>ACA349427892TTN,TTN-AS1c.91885C>T (p.His30629Tyr)
c.72970C>T (p.His24324Tyr)
c.72769C>T (p.His24257Tyr)
c.72394C>T (p.His24132Tyr)
c.99589C>T (p.His33197Tyr)
c.94666C>T (p.His31556Tyr)
n.446+13982G>A
n.574G>A
c.98686C>T (p.His32896Tyr)
c.72580C>T (p.His24194Tyr)
c.72439C>T (p.His24147Tyr)
c.98482C>T (p.His32828Tyr)
c.93880C>T (p.His31294Tyr)
c.93877C>T (p.His31293Tyr)
c.90919C>T (p.His30307Tyr)
c.72535C>T (p.His24179Tyr)
c.94030C>T (p.His31344Tyr)
c.94027C>T (p.His31343Tyr)
c.93460C>T (p.His31154Tyr)
c.90802C>T (p.His30268Tyr)
c.90721C>T (p.His30241Tyr)
c.72484C>T (p.His24162Tyr)
c.62338C>T (p.His20780Tyr)
2g.178537618G>CCA349427893TTN,TTN-AS1c.91885C>G (p.His30629Asp)
c.72970C>G (p.His24324Asp)
c.72769C>G (p.His24257Asp)
c.72394C>G (p.His24132Asp)
c.99589C>G (p.His33197Asp)
c.94666C>G (p.His31556Asp)
n.446+13982G>C
n.574G>C
c.98686C>G (p.His32896Asp)
c.72580C>G (p.His24194Asp)
c.72439C>G (p.His24147Asp)
c.98482C>G (p.His32828Asp)
c.93880C>G (p.His31294Asp)
c.93877C>G (p.His31293Asp)
c.90919C>G (p.His30307Asp)
c.72535C>G (p.His24179Asp)
c.94030C>G (p.His31344Asp)
c.94027C>G (p.His31343Asp)
c.93460C>G (p.His31154Asp)
c.90802C>G (p.His30268Asp)
c.90721C>G (p.His30241Asp)
c.72484C>G (p.His24162Asp)
c.62338C>G (p.His20780Asp)
2g.178537618G>TCA349427894TTN,TTN-AS1c.91885C>A (p.His30629Asn)
c.72970C>A (p.His24324Asn)
c.72769C>A (p.His24257Asn)
c.72394C>A (p.His24132Asn)
c.99589C>A (p.His33197Asn)
c.94666C>A (p.His31556Asn)
n.446+13982G>T
n.574G>T
c.98686C>A (p.His32896Asn)
c.72580C>A (p.His24194Asn)
c.72439C>A (p.His24147Asn)
c.98482C>A (p.His32828Asn)
c.93880C>A (p.His31294Asn)
c.93877C>A (p.His31293Asn)
c.90919C>A (p.His30307Asn)
c.72535C>A (p.His24179Asn)
c.94030C>A (p.His31344Asn)
c.94027C>A (p.His31343Asn)
c.93460C>A (p.His31154Asn)
c.90802C>A (p.His30268Asn)
c.90721C>A (p.His30241Asn)
c.72484C>A (p.His24162Asn)
c.62338C>A (p.His20780Asn)
2g.178537619G>ACA430238937TTN,TTN-AS1c.91884C>T (p.Phe30628=)
c.72969C>T (p.Phe24323=)
c.72768C>T (p.Phe24256=)
c.72393C>T (p.Phe24131=)
c.99588C>T (p.Phe33196=)
c.94665C>T (p.Phe31555=)
n.446+13983G>A
n.575G>A
c.98685C>T (p.Phe32895=)
c.72579C>T (p.Phe24193=)
c.72438C>T (p.Phe24146=)
c.98481C>T (p.Phe32827=)
c.93879C>T (p.Phe31293=)
c.93876C>T (p.Phe31292=)
c.90918C>T (p.Phe30306=)
c.72534C>T (p.Phe24178=)
c.94029C>T (p.Phe31343=)
c.94026C>T (p.Phe31342=)
c.93459C>T (p.Phe31153=)
c.90801C>T (p.Phe30267=)
c.90720C>T (p.Phe30240=)
c.72483C>T (p.Phe24161=)
c.62337C>T (p.Phe20779=)
2g.178537619G>CCA349427896TTN,TTN-AS1c.91884C>G (p.Phe30628Leu)
c.72969C>G (p.Phe24323Leu)
c.72768C>G (p.Phe24256Leu)
c.72393C>G (p.Phe24131Leu)
c.99588C>G (p.Phe33196Leu)
c.94665C>G (p.Phe31555Leu)
n.446+13983G>C
n.575G>C
c.98685C>G (p.Phe32895Leu)
c.72579C>G (p.Phe24193Leu)
c.72438C>G (p.Phe24146Leu)
c.98481C>G (p.Phe32827Leu)
c.93879C>G (p.Phe31293Leu)
c.93876C>G (p.Phe31292Leu)
c.90918C>G (p.Phe30306Leu)
c.72534C>G (p.Phe24178Leu)
c.94029C>G (p.Phe31343Leu)
c.94026C>G (p.Phe31342Leu)
c.93459C>G (p.Phe31153Leu)
c.90801C>G (p.Phe30267Leu)
c.90720C>G (p.Phe30240Leu)
c.72483C>G (p.Phe24161Leu)
c.62337C>G (p.Phe20779Leu)
2g.178537619G>TCA349427895TTN,TTN-AS1c.91884C>A (p.Phe30628Leu)
c.72969C>A (p.Phe24323Leu)
c.72768C>A (p.Phe24256Leu)
c.72393C>A (p.Phe24131Leu)
c.99588C>A (p.Phe33196Leu)
c.94665C>A (p.Phe31555Leu)
n.446+13983G>T
n.575G>T
c.98685C>A (p.Phe32895Leu)
c.72579C>A (p.Phe24193Leu)
c.72438C>A (p.Phe24146Leu)
c.98481C>A (p.Phe32827Leu)
c.93879C>A (p.Phe31293Leu)
c.93876C>A (p.Phe31292Leu)
c.90918C>A (p.Phe30306Leu)
c.72534C>A (p.Phe24178Leu)
c.94029C>A (p.Phe31343Leu)
c.94026C>A (p.Phe31342Leu)
c.93459C>A (p.Phe31153Leu)
c.90801C>A (p.Phe30267Leu)
c.90720C>A (p.Phe30240Leu)
c.72483C>A (p.Phe24161Leu)
c.62337C>A (p.Phe20779Leu)
2g.178537620A>CCA349427897TTN,TTN-AS1c.91883T>G (p.Phe30628Cys)
c.72968T>G (p.Phe24323Cys)
c.72767T>G (p.Phe24256Cys)
c.72392T>G (p.Phe24131Cys)
c.99587T>G (p.Phe33196Cys)
c.94664T>G (p.Phe31555Cys)
n.446+13984A>C
n.576A>C
c.98684T>G (p.Phe32895Cys)
c.72578T>G (p.Phe24193Cys)
c.72437T>G (p.Phe24146Cys)
c.98480T>G (p.Phe32827Cys)
c.93878T>G (p.Phe31293Cys)
c.93875T>G (p.Phe31292Cys)
c.90917T>G (p.Phe30306Cys)
c.72533T>G (p.Phe24178Cys)
c.94028T>G (p.Phe31343Cys)
c.94025T>G (p.Phe31342Cys)
c.93458T>G (p.Phe31153Cys)
c.90800T>G (p.Phe30267Cys)
c.90719T>G (p.Phe30240Cys)
c.72482T>G (p.Phe24161Cys)
c.62336T>G (p.Phe20779Cys)
2g.178537620A>GCA349427898TTN,TTN-AS1c.91883T>C (p.Phe30628Ser)
c.72968T>C (p.Phe24323Ser)
c.72767T>C (p.Phe24256Ser)
c.72392T>C (p.Phe24131Ser)
c.99587T>C (p.Phe33196Ser)
c.94664T>C (p.Phe31555Ser)
n.446+13984A>G
n.576A>G
c.98684T>C (p.Phe32895Ser)
c.72578T>C (p.Phe24193Ser)
c.72437T>C (p.Phe24146Ser)
c.98480T>C (p.Phe32827Ser)
c.93878T>C (p.Phe31293Ser)
c.93875T>C (p.Phe31292Ser)
c.90917T>C (p.Phe30306Ser)
c.72533T>C (p.Phe24178Ser)
c.94028T>C (p.Phe31343Ser)
c.94025T>C (p.Phe31342Ser)
c.93458T>C (p.Phe31153Ser)
c.90800T>C (p.Phe30267Ser)
c.90719T>C (p.Phe30240Ser)
c.72482T>C (p.Phe24161Ser)
c.62336T>C (p.Phe20779Ser)
 COSMIC COSMIC COSMIC COSMIC
2g.178537620A>TCA349427899TTN,TTN-AS1c.91883T>A (p.Phe30628Tyr)
c.72968T>A (p.Phe24323Tyr)
c.72767T>A (p.Phe24256Tyr)
c.72392T>A (p.Phe24131Tyr)
c.99587T>A (p.Phe33196Tyr)
c.94664T>A (p.Phe31555Tyr)
n.446+13984A>T
n.576A>T
c.98684T>A (p.Phe32895Tyr)
c.72578T>A (p.Phe24193Tyr)
c.72437T>A (p.Phe24146Tyr)
c.98480T>A (p.Phe32827Tyr)
c.93878T>A (p.Phe31293Tyr)
c.93875T>A (p.Phe31292Tyr)
c.90917T>A (p.Phe30306Tyr)
c.72533T>A (p.Phe24178Tyr)
c.94028T>A (p.Phe31343Tyr)
c.94025T>A (p.Phe31342Tyr)
c.93458T>A (p.Phe31153Tyr)
c.90800T>A (p.Phe30267Tyr)
c.90719T>A (p.Phe30240Tyr)
c.72482T>A (p.Phe24161Tyr)
c.62336T>A (p.Phe20779Tyr)
2g.178537621A=CA1310515556TTN,TTN-AS1c.91882T= (p.Phe30628=)
c.72967T= (p.Phe24323=)
c.72766T= (p.Phe24256=)
c.72391T= (p.Phe24131=)
c.99586T= (p.Phe33196=)
c.94663T= (p.Phe31555=)
n.446+13985A=
n.577A=
c.98683T= (p.Phe32895=)
c.72577T= (p.Phe24193=)
c.72436T= (p.Phe24146=)
c.98479T= (p.Phe32827=)
c.93877T= (p.Phe31293=)
c.93874T= (p.Phe31292=)
c.90916T= (p.Phe30306=)
c.72532T= (p.Phe24178=)
c.94027T= (p.Phe31343=)
c.94024T= (p.Phe31342=)
c.93457T= (p.Phe31153=)
c.90799T= (p.Phe30267=)
c.90718T= (p.Phe30240=)
c.72481T= (p.Phe24161=)
c.62335T= (p.Phe20779=)
2g.178537621A>CCA349427900TTN,TTN-AS1c.91882T>G (p.Phe30628Val)
c.72967T>G (p.Phe24323Val)
c.72766T>G (p.Phe24256Val)
c.72391T>G (p.Phe24131Val)
c.99586T>G (p.Phe33196Val)
c.94663T>G (p.Phe31555Val)
n.446+13985A>C
n.577A>C
c.98683T>G (p.Phe32895Val)
c.72577T>G (p.Phe24193Val)
c.72436T>G (p.Phe24146Val)
c.98479T>G (p.Phe32827Val)
c.93877T>G (p.Phe31293Val)
c.93874T>G (p.Phe31292Val)
c.90916T>G (p.Phe30306Val)
c.72532T>G (p.Phe24178Val)
c.94027T>G (p.Phe31343Val)
c.94024T>G (p.Phe31342Val)
c.93457T>G (p.Phe31153Val)
c.90799T>G (p.Phe30267Val)
c.90718T>G (p.Phe30240Val)
c.72481T>G (p.Phe24161Val)
c.62335T>G (p.Phe20779Val)
2g.178537621A>GCA349427901TTN,TTN-AS1c.91882T>C (p.Phe30628Leu)
c.72967T>C (p.Phe24323Leu)
c.72766T>C (p.Phe24256Leu)
c.72391T>C (p.Phe24131Leu)
c.99586T>C (p.Phe33196Leu)
c.94663T>C (p.Phe31555Leu)
n.446+13985A>G
n.577A>G
c.98683T>C (p.Phe32895Leu)
c.72577T>C (p.Phe24193Leu)
c.72436T>C (p.Phe24146Leu)
c.98479T>C (p.Phe32827Leu)
c.93877T>C (p.Phe31293Leu)
c.93874T>C (p.Phe31292Leu)
c.90916T>C (p.Phe30306Leu)
c.72532T>C (p.Phe24178Leu)
c.94027T>C (p.Phe31343Leu)
c.94024T>C (p.Phe31342Leu)
c.93457T>C (p.Phe31153Leu)
c.90799T>C (p.Phe30267Leu)
c.90718T>C (p.Phe30240Leu)
c.72481T>C (p.Phe24161Leu)
c.62335T>C (p.Phe20779Leu)
 dbSNP
2g.178537621A>TCA349427902TTN,TTN-AS1c.91882T>A (p.Phe30628Ile)
c.72967T>A (p.Phe24323Ile)
c.72766T>A (p.Phe24256Ile)
c.72391T>A (p.Phe24131Ile)
c.99586T>A (p.Phe33196Ile)
c.94663T>A (p.Phe31555Ile)
n.446+13985A>T
n.577A>T
c.98683T>A (p.Phe32895Ile)
c.72577T>A (p.Phe24193Ile)
c.72436T>A (p.Phe24146Ile)
c.98479T>A (p.Phe32827Ile)
c.93877T>A (p.Phe31293Ile)
c.93874T>A (p.Phe31292Ile)
c.90916T>A (p.Phe30306Ile)
c.72532T>A (p.Phe24178Ile)
c.94027T>A (p.Phe31343Ile)
c.94024T>A (p.Phe31342Ile)
c.93457T>A (p.Phe31153Ile)
c.90799T>A (p.Phe30267Ile)
c.90718T>A (p.Phe30240Ile)
c.72481T>A (p.Phe24161Ile)
c.62335T>A (p.Phe20779Ile)
2g.178537622C>ACA349427903TTN,TTN-AS1c.91881G>T (p.Gln30627His)
c.72966G>T (p.Gln24322His)
c.72765G>T (p.Gln24255His)
c.72390G>T (p.Gln24130His)
c.99585G>T (p.Gln33195His)
c.94662G>T (p.Gln31554His)
n.446+13986C>A
n.578C>A
c.98682G>T (p.Gln32894His)
c.72576G>T (p.Gln24192His)
c.72435G>T (p.Gln24145His)
c.98478G>T (p.Gln32826His)
c.93876G>T (p.Gln31292His)
c.93873G>T (p.Gln31291His)
c.90915G>T (p.Gln30305His)
c.72531G>T (p.Gln24177His)
c.94026G>T (p.Gln31342His)
c.94023G>T (p.Gln31341His)
c.93456G>T (p.Gln31152His)
c.90798G>T (p.Gln30266His)
c.90717G>T (p.Gln30239His)
c.72480G>T (p.Gln24160His)
c.62334G>T (p.Gln20778His)
2g.178537622C>GCA349427904TTN,TTN-AS1c.91881G>C (p.Gln30627His)
c.72966G>C (p.Gln24322His)
c.72765G>C (p.Gln24255His)
c.72390G>C (p.Gln24130His)
c.99585G>C (p.Gln33195His)
c.94662G>C (p.Gln31554His)
n.446+13986C>G
n.578C>G
c.98682G>C (p.Gln32894His)
c.72576G>C (p.Gln24192His)
c.72435G>C (p.Gln24145His)
c.98478G>C (p.Gln32826His)
c.93876G>C (p.Gln31292His)
c.93873G>C (p.Gln31291His)
c.90915G>C (p.Gln30305His)
c.72531G>C (p.Gln24177His)
c.94026G>C (p.Gln31342His)
c.94023G>C (p.Gln31341His)
c.93456G>C (p.Gln31152His)
c.90798G>C (p.Gln30266His)
c.90717G>C (p.Gln30239His)
c.72480G>C (p.Gln24160His)
c.62334G>C (p.Gln20778His)
2g.178537622C>TCA430238948TTN,TTN-AS1c.91881G>A (p.Gln30627=)
c.72966G>A (p.Gln24322=)
c.72765G>A (p.Gln24255=)
c.72390G>A (p.Gln24130=)
c.99585G>A (p.Gln33195=)
c.94662G>A (p.Gln31554=)
n.446+13986C>T
n.578C>T
c.98682G>A (p.Gln32894=)
c.72576G>A (p.Gln24192=)
c.72435G>A (p.Gln24145=)
c.98478G>A (p.Gln32826=)
c.93876G>A (p.Gln31292=)
c.93873G>A (p.Gln31291=)
c.90915G>A (p.Gln30305=)
c.72531G>A (p.Gln24177=)
c.94026G>A (p.Gln31342=)
c.94023G>A (p.Gln31341=)
c.93456G>A (p.Gln31152=)
c.90798G>A (p.Gln30266=)
c.90717G>A (p.Gln30239=)
c.72480G>A (p.Gln24160=)
c.62334G>A (p.Gln20778=)
2g.178537623T>ACA349427905TTN,TTN-AS1c.91880A>T (p.Gln30627Leu)
c.72965A>T (p.Gln24322Leu)
c.72764A>T (p.Gln24255Leu)
c.72389A>T (p.Gln24130Leu)
c.99584A>T (p.Gln33195Leu)
c.94661A>T (p.Gln31554Leu)
n.446+13987T>A
n.579T>A
c.98681A>T (p.Gln32894Leu)
c.72575A>T (p.Gln24192Leu)
c.72434A>T (p.Gln24145Leu)
c.98477A>T (p.Gln32826Leu)
c.93875A>T (p.Gln31292Leu)
c.93872A>T (p.Gln31291Leu)
c.90914A>T (p.Gln30305Leu)
c.72530A>T (p.Gln24177Leu)
c.94025A>T (p.Gln31342Leu)
c.94022A>T (p.Gln31341Leu)
c.93455A>T (p.Gln31152Leu)
c.90797A>T (p.Gln30266Leu)
c.90716A>T (p.Gln30239Leu)
c.72479A>T (p.Gln24160Leu)
c.62333A>T (p.Gln20778Leu)
2g.178537623T>CCA349427906TTN,TTN-AS1c.91880A>G (p.Gln30627Arg)
c.72965A>G (p.Gln24322Arg)
c.72764A>G (p.Gln24255Arg)
c.72389A>G (p.Gln24130Arg)
c.99584A>G (p.Gln33195Arg)
c.94661A>G (p.Gln31554Arg)
n.446+13987T>C
n.579T>C
c.98681A>G (p.Gln32894Arg)
c.72575A>G (p.Gln24192Arg)
c.72434A>G (p.Gln24145Arg)
c.98477A>G (p.Gln32826Arg)
c.93875A>G (p.Gln31292Arg)
c.93872A>G (p.Gln31291Arg)
c.90914A>G (p.Gln30305Arg)
c.72530A>G (p.Gln24177Arg)
c.94025A>G (p.Gln31342Arg)
c.94022A>G (p.Gln31341Arg)
c.93455A>G (p.Gln31152Arg)
c.90797A>G (p.Gln30266Arg)
c.90716A>G (p.Gln30239Arg)
c.72479A>G (p.Gln24160Arg)
c.62333A>G (p.Gln20778Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178537623T>GCA349427907TTN,TTN-AS1c.91880A>C (p.Gln30627Pro)
c.72965A>C (p.Gln24322Pro)
c.72764A>C (p.Gln24255Pro)
c.72389A>C (p.Gln24130Pro)
c.99584A>C (p.Gln33195Pro)
c.94661A>C (p.Gln31554Pro)
n.446+13987T>G
n.579T>G
c.98681A>C (p.Gln32894Pro)
c.72575A>C (p.Gln24192Pro)
c.72434A>C (p.Gln24145Pro)
c.98477A>C (p.Gln32826Pro)
c.93875A>C (p.Gln31292Pro)
c.93872A>C (p.Gln31291Pro)
c.90914A>C (p.Gln30305Pro)
c.72530A>C (p.Gln24177Pro)
c.94025A>C (p.Gln31342Pro)
c.94022A>C (p.Gln31341Pro)
c.93455A>C (p.Gln31152Pro)
c.90797A>C (p.Gln30266Pro)
c.90716A>C (p.Gln30239Pro)
c.72479A>C (p.Gln24160Pro)
c.62333A>C (p.Gln20778Pro)
2g.178537623T=CA1310515558TTN,TTN-AS1c.91880A= (p.Gln30627=)
c.72965A= (p.Gln24322=)
c.72764A= (p.Gln24255=)
c.72389A= (p.Gln24130=)
c.99584A= (p.Gln33195=)
c.94661A= (p.Gln31554=)
n.446+13987T=
n.579T=
c.98681A= (p.Gln32894=)
c.72575A= (p.Gln24192=)
c.72434A= (p.Gln24145=)
c.98477A= (p.Gln32826=)
c.93875A= (p.Gln31292=)
c.93872A= (p.Gln31291=)
c.90914A= (p.Gln30305=)
c.72530A= (p.Gln24177=)
c.94025A= (p.Gln31342=)
c.94022A= (p.Gln31341=)
c.93455A= (p.Gln31152=)
c.90797A= (p.Gln30266=)
c.90716A= (p.Gln30239=)
c.72479A= (p.Gln24160=)
c.62333A= (p.Gln20778=)
2g.178537624G>ACA349427910TTN,TTN-AS1c.91879C>T (p.Gln30627Ter)
c.72964C>T (p.Gln24322Ter)
c.72763C>T (p.Gln24255Ter)
c.72388C>T (p.Gln24130Ter)
c.99583C>T (p.Gln33195Ter)
c.94660C>T (p.Gln31554Ter)
n.446+13988G>A
n.580G>A
c.98680C>T (p.Gln32894Ter)
c.72574C>T (p.Gln24192Ter)
c.72433C>T (p.Gln24145Ter)
c.98476C>T (p.Gln32826Ter)
c.93874C>T (p.Gln31292Ter)
c.93871C>T (p.Gln31291Ter)
c.90913C>T (p.Gln30305Ter)
c.72529C>T (p.Gln24177Ter)
c.94024C>T (p.Gln31342Ter)
c.94021C>T (p.Gln31341Ter)
c.93454C>T (p.Gln31152Ter)
c.90796C>T (p.Gln30266Ter)
c.90715C>T (p.Gln30239Ter)
c.72478C>T (p.Gln24160Ter)
c.62332C>T (p.Gln20778Ter)
 ClinVar
2g.178537624G>CCA349427909TTN,TTN-AS1c.91879C>G (p.Gln30627Glu)
c.72964C>G (p.Gln24322Glu)
c.72763C>G (p.Gln24255Glu)
c.72388C>G (p.Gln24130Glu)
c.99583C>G (p.Gln33195Glu)
c.94660C>G (p.Gln31554Glu)
n.446+13988G>C
n.580G>C
c.98680C>G (p.Gln32894Glu)
c.72574C>G (p.Gln24192Glu)
c.72433C>G (p.Gln24145Glu)
c.98476C>G (p.Gln32826Glu)
c.93874C>G (p.Gln31292Glu)
c.93871C>G (p.Gln31291Glu)
c.90913C>G (p.Gln30305Glu)
c.72529C>G (p.Gln24177Glu)
c.94024C>G (p.Gln31342Glu)
c.94021C>G (p.Gln31341Glu)
c.93454C>G (p.Gln31152Glu)
c.90796C>G (p.Gln30266Glu)
c.90715C>G (p.Gln30239Glu)
c.72478C>G (p.Gln24160Glu)
c.62332C>G (p.Gln20778Glu)
2g.178537624G>TCA349427908TTN,TTN-AS1c.91879C>A (p.Gln30627Lys)
c.72964C>A (p.Gln24322Lys)
c.72763C>A (p.Gln24255Lys)
c.72388C>A (p.Gln24130Lys)
c.99583C>A (p.Gln33195Lys)
c.94660C>A (p.Gln31554Lys)
n.446+13988G>T
n.580G>T
c.98680C>A (p.Gln32894Lys)
c.72574C>A (p.Gln24192Lys)
c.72433C>A (p.Gln24145Lys)
c.98476C>A (p.Gln32826Lys)
c.93874C>A (p.Gln31292Lys)
c.93871C>A (p.Gln31291Lys)
c.90913C>A (p.Gln30305Lys)
c.72529C>A (p.Gln24177Lys)
c.94024C>A (p.Gln31342Lys)
c.94021C>A (p.Gln31341Lys)
c.93454C>A (p.Gln31152Lys)
c.90796C>A (p.Gln30266Lys)
c.90715C>A (p.Gln30239Lys)
c.72478C>A (p.Gln24160Lys)
c.62332C>A (p.Gln20778Lys)
2g.178537625C>ACA430238957TTN,TTN-AS1c.91878G>T (p.Pro30626=)
c.72963G>T (p.Pro24321=)
c.72762G>T (p.Pro24254=)
c.72387G>T (p.Pro24129=)
c.99582G>T (p.Pro33194=)
c.94659G>T (p.Pro31553=)
n.446+13989C>A
n.581C>A
c.98679G>T (p.Pro32893=)
c.72573G>T (p.Pro24191=)
c.72432G>T (p.Pro24144=)
c.98475G>T (p.Pro32825=)
c.93873G>T (p.Pro31291=)
c.93870G>T (p.Pro31290=)
c.90912G>T (p.Pro30304=)
c.72528G>T (p.Pro24176=)
c.94023G>T (p.Pro31341=)
c.94020G>T (p.Pro31340=)
c.93453G>T (p.Pro31151=)
c.90795G>T (p.Pro30265=)
c.90714G>T (p.Pro30238=)
c.72477G>T (p.Pro24159=)
c.62331G>T (p.Pro20777=)
2g.178537625C=CA1310515560TTN,TTN-AS1c.91878G= (p.Pro30626=)
c.72963G= (p.Pro24321=)
c.72762G= (p.Pro24254=)
c.72387G= (p.Pro24129=)
c.99582G= (p.Pro33194=)
c.94659G= (p.Pro31553=)
n.446+13989C=
n.581C=
c.98679G= (p.Pro32893=)
c.72573G= (p.Pro24191=)
c.72432G= (p.Pro24144=)
c.98475G= (p.Pro32825=)
c.93873G= (p.Pro31291=)
c.93870G= (p.Pro31290=)
c.90912G= (p.Pro30304=)
c.72528G= (p.Pro24176=)
c.94023G= (p.Pro31341=)
c.94020G= (p.Pro31340=)
c.93453G= (p.Pro31151=)
c.90795G= (p.Pro30265=)
c.90714G= (p.Pro30238=)
c.72477G= (p.Pro24159=)
c.62331G= (p.Pro20777=)
2g.178537625C>GCA430238960TTN,TTN-AS1c.91878G>C (p.Pro30626=)
c.72963G>C (p.Pro24321=)
c.72762G>C (p.Pro24254=)
c.72387G>C (p.Pro24129=)
c.99582G>C (p.Pro33194=)
c.94659G>C (p.Pro31553=)
n.446+13989C>G
n.581C>G
c.98679G>C (p.Pro32893=)
c.72573G>C (p.Pro24191=)
c.72432G>C (p.Pro24144=)
c.98475G>C (p.Pro32825=)
c.93873G>C (p.Pro31291=)
c.93870G>C (p.Pro31290=)
c.90912G>C (p.Pro30304=)
c.72528G>C (p.Pro24176=)
c.94023G>C (p.Pro31341=)
c.94020G>C (p.Pro31340=)
c.93453G>C (p.Pro31151=)
c.90795G>C (p.Pro30265=)
c.90714G>C (p.Pro30238=)
c.72477G>C (p.Pro24159=)
c.62331G>C (p.Pro20777=)
2g.178537625C>TCA1986167TTN,TTN-AS1c.91878G>A (p.Pro30626=)
c.72963G>A (p.Pro24321=)
c.72762G>A (p.Pro24254=)
c.72387G>A (p.Pro24129=)
c.99582G>A (p.Pro33194=)
c.94659G>A (p.Pro31553=)
n.446+13989C>T
n.581C>T
c.98679G>A (p.Pro32893=)
c.72573G>A (p.Pro24191=)
c.72432G>A (p.Pro24144=)
c.98475G>A (p.Pro32825=)
c.93873G>A (p.Pro31291=)
c.93870G>A (p.Pro31290=)
c.90912G>A (p.Pro30304=)
c.72528G>A (p.Pro24176=)
c.94023G>A (p.Pro31341=)
c.94020G>A (p.Pro31340=)
c.93453G>A (p.Pro31151=)
c.90795G>A (p.Pro30265=)
c.90714G>A (p.Pro30238=)
c.72477G>A (p.Pro24159=)
c.62331G>A (p.Pro20777=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178537626G>ACA209318TTN,TTN-AS1c.91877C>T (p.Pro30626Leu)
c.72962C>T (p.Pro24321Leu)
c.72761C>T (p.Pro24254Leu)
c.72386C>T (p.Pro24129Leu)
c.99581C>T (p.Pro33194Leu)
c.94658C>T (p.Pro31553Leu)
n.446+13990G>A
n.582G>A
c.98678C>T (p.Pro32893Leu)
c.72572C>T (p.Pro24191Leu)
c.72431C>T (p.Pro24144Leu)
c.98474C>T (p.Pro32825Leu)
c.93872C>T (p.Pro31291Leu)
c.93869C>T (p.Pro31290Leu)
c.90911C>T (p.Pro30304Leu)
c.72527C>T (p.Pro24176Leu)
c.94022C>T (p.Pro31341Leu)
c.94019C>T (p.Pro31340Leu)
c.93452C>T (p.Pro31151Leu)
c.90794C>T (p.Pro30265Leu)
c.90713C>T (p.Pro30238Leu)
c.72476C>T (p.Pro24159Leu)
c.62330C>T (p.Pro20777Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178537626G>CCA349427911TTN,TTN-AS1c.91877C>G (p.Pro30626Arg)
c.72962C>G (p.Pro24321Arg)
c.72761C>G (p.Pro24254Arg)
c.72386C>G (p.Pro24129Arg)
c.99581C>G (p.Pro33194Arg)
c.94658C>G (p.Pro31553Arg)
n.446+13990G>C
n.582G>C
c.98678C>G (p.Pro32893Arg)
c.72572C>G (p.Pro24191Arg)
c.72431C>G (p.Pro24144Arg)
c.98474C>G (p.Pro32825Arg)
c.93872C>G (p.Pro31291Arg)
c.93869C>G (p.Pro31290Arg)
c.90911C>G (p.Pro30304Arg)
c.72527C>G (p.Pro24176Arg)
c.94022C>G (p.Pro31341Arg)
c.94019C>G (p.Pro31340Arg)
c.93452C>G (p.Pro31151Arg)
c.90794C>G (p.Pro30265Arg)
c.90713C>G (p.Pro30238Arg)
c.72476C>G (p.Pro24159Arg)
c.62330C>G (p.Pro20777Arg)
2g.178537626G=CA1310515562TTN,TTN-AS1c.91877C= (p.Pro30626=)
c.72962C= (p.Pro24321=)
c.72761C= (p.Pro24254=)
c.72386C= (p.Pro24129=)
c.99581C= (p.Pro33194=)
c.94658C= (p.Pro31553=)
n.446+13990G=
n.582G=
c.98678C= (p.Pro32893=)
c.72572C= (p.Pro24191=)
c.72431C= (p.Pro24144=)
c.98474C= (p.Pro32825=)
c.93872C= (p.Pro31291=)
c.93869C= (p.Pro31290=)
c.90911C= (p.Pro30304=)
c.72527C= (p.Pro24176=)
c.94022C= (p.Pro31341=)
c.94019C= (p.Pro31340=)
c.93452C= (p.Pro31151=)
c.90794C= (p.Pro30265=)
c.90713C= (p.Pro30238=)
c.72476C= (p.Pro24159=)
c.62330C= (p.Pro20777=)
2g.178537626G>TCA349427912TTN,TTN-AS1c.91877C>A (p.Pro30626Gln)
c.72962C>A (p.Pro24321Gln)
c.72761C>A (p.Pro24254Gln)
c.72386C>A (p.Pro24129Gln)
c.99581C>A (p.Pro33194Gln)
c.94658C>A (p.Pro31553Gln)
n.446+13990G>T
n.582G>T
c.98678C>A (p.Pro32893Gln)
c.72572C>A (p.Pro24191Gln)
c.72431C>A (p.Pro24144Gln)
c.98474C>A (p.Pro32825Gln)
c.93872C>A (p.Pro31291Gln)
c.93869C>A (p.Pro31290Gln)
c.90911C>A (p.Pro30304Gln)
c.72527C>A (p.Pro24176Gln)
c.94022C>A (p.Pro31341Gln)
c.94019C>A (p.Pro31340Gln)
c.93452C>A (p.Pro31151Gln)
c.90794C>A (p.Pro30265Gln)
c.90713C>A (p.Pro30238Gln)
c.72476C>A (p.Pro24159Gln)
c.62330C>A (p.Pro20777Gln)
2g.178537627_178537629delCA2662121293TTN,TTN-AS1c.91875_91877del (p.Pro30626del)
c.72960_72962del (p.Pro24321del)
c.72759_72761del (p.Pro24254del)
c.72384_72386del (p.Pro24129del)
c.99579_99581del (p.Pro33194del)
c.94656_94658del (p.Pro31553del)
n.446+13991_446+13993del
n.583_585del
c.98676_98678del (p.Pro32893del)
c.72570_72572del (p.Pro24191del)
c.72429_72431del (p.Pro24144del)
c.98472_98474del (p.Pro32825del)
c.93870_93872del (p.Pro31291del)
c.93867_93869del (p.Pro31290del)
c.90909_90911del (p.Pro30304del)
c.72525_72527del (p.Pro24176del)
c.94020_94022del (p.Pro31341del)
c.94017_94019del (p.Pro31340del)
c.93450_93452del (p.Pro31151del)
c.90792_90794del (p.Pro30265del)
c.90711_90713del (p.Pro30238del)
c.72474_72476del (p.Pro24159del)
c.62328_62330del (p.Pro20777del)
 gnomAD v4

Number of alleles fetched