Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178564605_178564612delCA2580064780TTN,TTN-AS1c.73818_73825del (p.Gly24607Ter)
c.54903_54910del (p.Gly18302Ter)
c.54702_54709del (p.Gly18235Ter)
c.54327_54334del (p.Gly18110Ter)
c.81522_81529del (p.Gly27175Ter)
c.76599_76606del (p.Gly25534Ter)
n.447-6695_447-6688del
n.2044-17967_2044-17960del
c.80619_80626del (p.Gly26874Ter)
c.54513_54520del (p.Gly18172Ter)
c.54372_54379del (p.Gly18125Ter)
c.80415_80422del (p.Gly26806Ter)
c.75813_75820del (p.Gly25272Ter)
c.75810_75817del (p.Gly25271Ter)
c.72852_72859del (p.Gly24285Ter)
c.54468_54475del (p.Gly18157Ter)
c.75963_75970del (p.Gly25322Ter)
c.75960_75967del (p.Gly25321Ter)
c.75393_75400del (p.Gly25132Ter)
c.72735_72742del (p.Gly24246Ter)
c.72654_72661del (p.Gly24219Ter)
c.54417_54424del (p.Gly18140Ter)
c.44271_44278del (p.Gly14758Ter)
 ClinVar
2g.178564605C>ACA1989195TTN,TTN-AS1c.73823G>T (p.Arg24608Leu)
c.54908G>T (p.Arg18303Leu)
c.54707G>T (p.Arg18236Leu)
c.54332G>T (p.Arg18111Leu)
c.81527G>T (p.Arg27176Leu)
c.76604G>T (p.Arg25535Leu)
n.447-6695C>A
n.2044-17967C>A
c.80624G>T (p.Arg26875Leu)
c.54518G>T (p.Arg18173Leu)
c.54377G>T (p.Arg18126Leu)
c.80420G>T (p.Arg26807Leu)
c.75818G>T (p.Arg25273Leu)
c.75815G>T (p.Arg25272Leu)
c.72857G>T (p.Arg24286Leu)
c.54473G>T (p.Arg18158Leu)
c.75968G>T (p.Arg25323Leu)
c.75965G>T (p.Arg25322Leu)
c.75398G>T (p.Arg25133Leu)
c.72740G>T (p.Arg24247Leu)
c.72659G>T (p.Arg24220Leu)
c.54422G>T (p.Arg18141Leu)
c.44276G>T (p.Arg14759Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178564605C=CA1310528348TTN,TTN-AS1c.73823G= (p.Arg24608=)
c.54908G= (p.Arg18303=)
c.54707G= (p.Arg18236=)
c.54332G= (p.Arg18111=)
c.81527G= (p.Arg27176=)
c.76604G= (p.Arg25535=)
n.447-6695C=
n.2044-17967C=
c.80624G= (p.Arg26875=)
c.54518G= (p.Arg18173=)
c.54377G= (p.Arg18126=)
c.80420G= (p.Arg26807=)
c.75818G= (p.Arg25273=)
c.75815G= (p.Arg25272=)
c.72857G= (p.Arg24286=)
c.54473G= (p.Arg18158=)
c.75968G= (p.Arg25323=)
c.75965G= (p.Arg25322=)
c.75398G= (p.Arg25133=)
c.72740G= (p.Arg24247=)
c.72659G= (p.Arg24220=)
c.54422G= (p.Arg18141=)
c.44276G= (p.Arg14759=)
2g.178564605C>GCA349581313TTN,TTN-AS1c.73823G>C (p.Arg24608Pro)
c.54908G>C (p.Arg18303Pro)
c.54707G>C (p.Arg18236Pro)
c.54332G>C (p.Arg18111Pro)
c.81527G>C (p.Arg27176Pro)
c.76604G>C (p.Arg25535Pro)
n.447-6695C>G
n.2044-17967C>G
c.80624G>C (p.Arg26875Pro)
c.54518G>C (p.Arg18173Pro)
c.54377G>C (p.Arg18126Pro)
c.80420G>C (p.Arg26807Pro)
c.75818G>C (p.Arg25273Pro)
c.75815G>C (p.Arg25272Pro)
c.72857G>C (p.Arg24286Pro)
c.54473G>C (p.Arg18158Pro)
c.75968G>C (p.Arg25323Pro)
c.75965G>C (p.Arg25322Pro)
c.75398G>C (p.Arg25133Pro)
c.72740G>C (p.Arg24247Pro)
c.72659G>C (p.Arg24220Pro)
c.54422G>C (p.Arg18141Pro)
c.44276G>C (p.Arg14759Pro)
2g.178564605C>TCA1989196TTN,TTN-AS1c.73823G>A (p.Arg24608His)
c.54908G>A (p.Arg18303His)
c.54707G>A (p.Arg18236His)
c.54332G>A (p.Arg18111His)
c.81527G>A (p.Arg27176His)
c.76604G>A (p.Arg25535His)
n.447-6695C>T
n.2044-17967C>T
c.80624G>A (p.Arg26875His)
c.54518G>A (p.Arg18173His)
c.54377G>A (p.Arg18126His)
c.80420G>A (p.Arg26807His)
c.75818G>A (p.Arg25273His)
c.75815G>A (p.Arg25272His)
c.72857G>A (p.Arg24286His)
c.54473G>A (p.Arg18158His)
c.75968G>A (p.Arg25323His)
c.75965G>A (p.Arg25322His)
c.75398G>A (p.Arg25133His)
c.72740G>A (p.Arg24247His)
c.72659G>A (p.Arg24220His)
c.54422G>A (p.Arg18141His)
c.44276G>A (p.Arg14759His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178564606G>ACA1989197TTN,TTN-AS1c.73822C>T (p.Arg24608Cys)
c.54907C>T (p.Arg18303Cys)
c.54706C>T (p.Arg18236Cys)
c.54331C>T (p.Arg18111Cys)
c.81526C>T (p.Arg27176Cys)
c.76603C>T (p.Arg25535Cys)
n.447-6694G>A
n.2044-17966G>A
c.80623C>T (p.Arg26875Cys)
c.54517C>T (p.Arg18173Cys)
c.54376C>T (p.Arg18126Cys)
c.80419C>T (p.Arg26807Cys)
c.75817C>T (p.Arg25273Cys)
c.75814C>T (p.Arg25272Cys)
c.72856C>T (p.Arg24286Cys)
c.54472C>T (p.Arg18158Cys)
c.75967C>T (p.Arg25323Cys)
c.75964C>T (p.Arg25322Cys)
c.75397C>T (p.Arg25133Cys)
c.72739C>T (p.Arg24247Cys)
c.72658C>T (p.Arg24220Cys)
c.54421C>T (p.Arg18141Cys)
c.44275C>T (p.Arg14759Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178564606G>CCA349581314TTN,TTN-AS1c.73822C>G (p.Arg24608Gly)
c.54907C>G (p.Arg18303Gly)
c.54706C>G (p.Arg18236Gly)
c.54331C>G (p.Arg18111Gly)
c.81526C>G (p.Arg27176Gly)
c.76603C>G (p.Arg25535Gly)
n.447-6694G>C
n.2044-17966G>C
c.80623C>G (p.Arg26875Gly)
c.54517C>G (p.Arg18173Gly)
c.54376C>G (p.Arg18126Gly)
c.80419C>G (p.Arg26807Gly)
c.75817C>G (p.Arg25273Gly)
c.75814C>G (p.Arg25272Gly)
c.72856C>G (p.Arg24286Gly)
c.54472C>G (p.Arg18158Gly)
c.75967C>G (p.Arg25323Gly)
c.75964C>G (p.Arg25322Gly)
c.75397C>G (p.Arg25133Gly)
c.72739C>G (p.Arg24247Gly)
c.72658C>G (p.Arg24220Gly)
c.54421C>G (p.Arg18141Gly)
c.44275C>G (p.Arg14759Gly)
 dbSNP gnomAD v4
2g.178564606G=CA1310528352TTN,TTN-AS1c.73822C= (p.Arg24608=)
c.54907C= (p.Arg18303=)
c.54706C= (p.Arg18236=)
c.54331C= (p.Arg18111=)
c.81526C= (p.Arg27176=)
c.76603C= (p.Arg25535=)
n.447-6694G=
n.2044-17966G=
c.80623C= (p.Arg26875=)
c.54517C= (p.Arg18173=)
c.54376C= (p.Arg18126=)
c.80419C= (p.Arg26807=)
c.75817C= (p.Arg25273=)
c.75814C= (p.Arg25272=)
c.72856C= (p.Arg24286=)
c.54472C= (p.Arg18158=)
c.75967C= (p.Arg25323=)
c.75964C= (p.Arg25322=)
c.75397C= (p.Arg25133=)
c.72739C= (p.Arg24247=)
c.72658C= (p.Arg24220=)
c.54421C= (p.Arg18141=)
c.44275C= (p.Arg14759=)
2g.178564606G>TCA349581315TTN,TTN-AS1c.73822C>A (p.Arg24608Ser)
c.54907C>A (p.Arg18303Ser)
c.54706C>A (p.Arg18236Ser)
c.54331C>A (p.Arg18111Ser)
c.81526C>A (p.Arg27176Ser)
c.76603C>A (p.Arg25535Ser)
n.447-6694G>T
n.2044-17966G>T
c.80623C>A (p.Arg26875Ser)
c.54517C>A (p.Arg18173Ser)
c.54376C>A (p.Arg18126Ser)
c.80419C>A (p.Arg26807Ser)
c.75817C>A (p.Arg25273Ser)
c.75814C>A (p.Arg25272Ser)
c.72856C>A (p.Arg24286Ser)
c.54472C>A (p.Arg18158Ser)
c.75967C>A (p.Arg25323Ser)
c.75964C>A (p.Arg25322Ser)
c.75397C>A (p.Arg25133Ser)
c.72739C>A (p.Arg24247Ser)
c.72658C>A (p.Arg24220Ser)
c.54421C>A (p.Arg18141Ser)
c.44275C>A (p.Arg14759Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.178564607A>CCA430251107TTN,TTN-AS1c.73821T>G (p.Gly24607=)
c.54906T>G (p.Gly18302=)
c.54705T>G (p.Gly18235=)
c.54330T>G (p.Gly18110=)
c.81525T>G (p.Gly27175=)
c.76602T>G (p.Gly25534=)
n.447-6693A>C
n.2044-17965A>C
c.80622T>G (p.Gly26874=)
c.54516T>G (p.Gly18172=)
c.54375T>G (p.Gly18125=)
c.80418T>G (p.Gly26806=)
c.75816T>G (p.Gly25272=)
c.75813T>G (p.Gly25271=)
c.72855T>G (p.Gly24285=)
c.54471T>G (p.Gly18157=)
c.75966T>G (p.Gly25322=)
c.75963T>G (p.Gly25321=)
c.75396T>G (p.Gly25132=)
c.72738T>G (p.Gly24246=)
c.72657T>G (p.Gly24219=)
c.54420T>G (p.Gly18140=)
c.44274T>G (p.Gly14758=)
2g.178564607A>GCA430251108TTN,TTN-AS1c.73821T>C (p.Gly24607=)
c.54906T>C (p.Gly18302=)
c.54705T>C (p.Gly18235=)
c.54330T>C (p.Gly18110=)
c.81525T>C (p.Gly27175=)
c.76602T>C (p.Gly25534=)
n.447-6693A>G
n.2044-17965A>G
c.80622T>C (p.Gly26874=)
c.54516T>C (p.Gly18172=)
c.54375T>C (p.Gly18125=)
c.80418T>C (p.Gly26806=)
c.75816T>C (p.Gly25272=)
c.75813T>C (p.Gly25271=)
c.72855T>C (p.Gly24285=)
c.54471T>C (p.Gly18157=)
c.75966T>C (p.Gly25322=)
c.75963T>C (p.Gly25321=)
c.75396T>C (p.Gly25132=)
c.72738T>C (p.Gly24246=)
c.72657T>C (p.Gly24219=)
c.54420T>C (p.Gly18140=)
c.44274T>C (p.Gly14758=)
2g.178564607A>TCA430251109TTN,TTN-AS1c.73821T>A (p.Gly24607=)
c.54906T>A (p.Gly18302=)
c.54705T>A (p.Gly18235=)
c.54330T>A (p.Gly18110=)
c.81525T>A (p.Gly27175=)
c.76602T>A (p.Gly25534=)
n.447-6693A>T
n.2044-17965A>T
c.80622T>A (p.Gly26874=)
c.54516T>A (p.Gly18172=)
c.54375T>A (p.Gly18125=)
c.80418T>A (p.Gly26806=)
c.75816T>A (p.Gly25272=)
c.75813T>A (p.Gly25271=)
c.72855T>A (p.Gly24285=)
c.54471T>A (p.Gly18157=)
c.75966T>A (p.Gly25322=)
c.75963T>A (p.Gly25321=)
c.75396T>A (p.Gly25132=)
c.72738T>A (p.Gly24246=)
c.72657T>A (p.Gly24219=)
c.54420T>A (p.Gly18140=)
c.44274T>A (p.Gly14758=)
2g.178564608C>ACA349581316TTN,TTN-AS1c.73820G>T (p.Gly24607Val)
c.54905G>T (p.Gly18302Val)
c.54704G>T (p.Gly18235Val)
c.54329G>T (p.Gly18110Val)
c.81524G>T (p.Gly27175Val)
c.76601G>T (p.Gly25534Val)
n.447-6692C>A
n.2044-17964C>A
c.80621G>T (p.Gly26874Val)
c.54515G>T (p.Gly18172Val)
c.54374G>T (p.Gly18125Val)
c.80417G>T (p.Gly26806Val)
c.75815G>T (p.Gly25272Val)
c.75812G>T (p.Gly25271Val)
c.72854G>T (p.Gly24285Val)
c.54470G>T (p.Gly18157Val)
c.75965G>T (p.Gly25322Val)
c.75962G>T (p.Gly25321Val)
c.75395G>T (p.Gly25132Val)
c.72737G>T (p.Gly24246Val)
c.72656G>T (p.Gly24219Val)
c.54419G>T (p.Gly18140Val)
c.44273G>T (p.Gly14758Val)
2g.178564608C=CA1310528354TTN,TTN-AS1c.73820G= (p.Gly24607=)
c.54905G= (p.Gly18302=)
c.54704G= (p.Gly18235=)
c.54329G= (p.Gly18110=)
c.81524G= (p.Gly27175=)
c.76601G= (p.Gly25534=)
n.447-6692C=
n.2044-17964C=
c.80621G= (p.Gly26874=)
c.54515G= (p.Gly18172=)
c.54374G= (p.Gly18125=)
c.80417G= (p.Gly26806=)
c.75815G= (p.Gly25272=)
c.75812G= (p.Gly25271=)
c.72854G= (p.Gly24285=)
c.54470G= (p.Gly18157=)
c.75965G= (p.Gly25322=)
c.75962G= (p.Gly25321=)
c.75395G= (p.Gly25132=)
c.72737G= (p.Gly24246=)
c.72656G= (p.Gly24219=)
c.54419G= (p.Gly18140=)
c.44273G= (p.Gly14758=)
2g.178564608C>GCA349581317TTN,TTN-AS1c.73820G>C (p.Gly24607Ala)
c.54905G>C (p.Gly18302Ala)
c.54704G>C (p.Gly18235Ala)
c.54329G>C (p.Gly18110Ala)
c.81524G>C (p.Gly27175Ala)
c.76601G>C (p.Gly25534Ala)
n.447-6692C>G
n.2044-17964C>G
c.80621G>C (p.Gly26874Ala)
c.54515G>C (p.Gly18172Ala)
c.54374G>C (p.Gly18125Ala)
c.80417G>C (p.Gly26806Ala)
c.75815G>C (p.Gly25272Ala)
c.75812G>C (p.Gly25271Ala)
c.72854G>C (p.Gly24285Ala)
c.54470G>C (p.Gly18157Ala)
c.75965G>C (p.Gly25322Ala)
c.75962G>C (p.Gly25321Ala)
c.75395G>C (p.Gly25132Ala)
c.72737G>C (p.Gly24246Ala)
c.72656G>C (p.Gly24219Ala)
c.54419G>C (p.Gly18140Ala)
c.44273G>C (p.Gly14758Ala)
 gnomAD v4
2g.178564608C>TCA349581318TTN,TTN-AS1c.73820G>A (p.Gly24607Asp)
c.54905G>A (p.Gly18302Asp)
c.54704G>A (p.Gly18235Asp)
c.54329G>A (p.Gly18110Asp)
c.81524G>A (p.Gly27175Asp)
c.76601G>A (p.Gly25534Asp)
n.447-6692C>T
n.2044-17964C>T
c.80621G>A (p.Gly26874Asp)
c.54515G>A (p.Gly18172Asp)
c.54374G>A (p.Gly18125Asp)
c.80417G>A (p.Gly26806Asp)
c.75815G>A (p.Gly25272Asp)
c.75812G>A (p.Gly25271Asp)
c.72854G>A (p.Gly24285Asp)
c.54470G>A (p.Gly18157Asp)
c.75965G>A (p.Gly25322Asp)
c.75962G>A (p.Gly25321Asp)
c.75395G>A (p.Gly25132Asp)
c.72737G>A (p.Gly24246Asp)
c.72656G>A (p.Gly24219Asp)
c.54419G>A (p.Gly18140Asp)
c.44273G>A (p.Gly14758Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.178564609C>ACA349581319TTN,TTN-AS1c.73819G>T (p.Gly24607Cys)
c.54904G>T (p.Gly18302Cys)
c.54703G>T (p.Gly18235Cys)
c.54328G>T (p.Gly18110Cys)
c.81523G>T (p.Gly27175Cys)
c.76600G>T (p.Gly25534Cys)
n.447-6691C>A
n.2044-17963C>A
c.80620G>T (p.Gly26874Cys)
c.54514G>T (p.Gly18172Cys)
c.54373G>T (p.Gly18125Cys)
c.80416G>T (p.Gly26806Cys)
c.75814G>T (p.Gly25272Cys)
c.75811G>T (p.Gly25271Cys)
c.72853G>T (p.Gly24285Cys)
c.54469G>T (p.Gly18157Cys)
c.75964G>T (p.Gly25322Cys)
c.75961G>T (p.Gly25321Cys)
c.75394G>T (p.Gly25132Cys)
c.72736G>T (p.Gly24246Cys)
c.72655G>T (p.Gly24219Cys)
c.54418G>T (p.Gly18140Cys)
c.44272G>T (p.Gly14758Cys)
2g.178564609C=CA1310528357TTN,TTN-AS1c.73819G= (p.Gly24607=)
c.54904G= (p.Gly18302=)
c.54703G= (p.Gly18235=)
c.54328G= (p.Gly18110=)
c.81523G= (p.Gly27175=)
c.76600G= (p.Gly25534=)
n.447-6691C=
n.2044-17963C=
c.80620G= (p.Gly26874=)
c.54514G= (p.Gly18172=)
c.54373G= (p.Gly18125=)
c.80416G= (p.Gly26806=)
c.75814G= (p.Gly25272=)
c.75811G= (p.Gly25271=)
c.72853G= (p.Gly24285=)
c.54469G= (p.Gly18157=)
c.75964G= (p.Gly25322=)
c.75961G= (p.Gly25321=)
c.75394G= (p.Gly25132=)
c.72736G= (p.Gly24246=)
c.72655G= (p.Gly24219=)
c.54418G= (p.Gly18140=)
c.44272G= (p.Gly14758=)
2g.178564609C>GCA349581320TTN,TTN-AS1c.73819G>C (p.Gly24607Arg)
c.54904G>C (p.Gly18302Arg)
c.54703G>C (p.Gly18235Arg)
c.54328G>C (p.Gly18110Arg)
c.81523G>C (p.Gly27175Arg)
c.76600G>C (p.Gly25534Arg)
n.447-6691C>G
n.2044-17963C>G
c.80620G>C (p.Gly26874Arg)
c.54514G>C (p.Gly18172Arg)
c.54373G>C (p.Gly18125Arg)
c.80416G>C (p.Gly26806Arg)
c.75814G>C (p.Gly25272Arg)
c.75811G>C (p.Gly25271Arg)
c.72853G>C (p.Gly24285Arg)
c.54469G>C (p.Gly18157Arg)
c.75964G>C (p.Gly25322Arg)
c.75961G>C (p.Gly25321Arg)
c.75394G>C (p.Gly25132Arg)
c.72736G>C (p.Gly24246Arg)
c.72655G>C (p.Gly24219Arg)
c.54418G>C (p.Gly18140Arg)
c.44272G>C (p.Gly14758Arg)
2g.178564609C>TCA1989198TTN,TTN-AS1c.73819G>A (p.Gly24607Ser)
c.54904G>A (p.Gly18302Ser)
c.54703G>A (p.Gly18235Ser)
c.54328G>A (p.Gly18110Ser)
c.81523G>A (p.Gly27175Ser)
c.76600G>A (p.Gly25534Ser)
n.447-6691C>T
n.2044-17963C>T
c.80620G>A (p.Gly26874Ser)
c.54514G>A (p.Gly18172Ser)
c.54373G>A (p.Gly18125Ser)
c.80416G>A (p.Gly26806Ser)
c.75814G>A (p.Gly25272Ser)
c.75811G>A (p.Gly25271Ser)
c.72853G>A (p.Gly24285Ser)
c.54469G>A (p.Gly18157Ser)
c.75964G>A (p.Gly25322Ser)
c.75961G>A (p.Gly25321Ser)
c.75394G>A (p.Gly25132Ser)
c.72736G>A (p.Gly24246Ser)
c.72655G>A (p.Gly24219Ser)
c.54418G>A (p.Gly18140Ser)
c.44272G>A (p.Gly14758Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178564610A>CCA430251116TTN,TTN-AS1c.73818T>G (p.Pro24606=)
c.54903T>G (p.Pro18301=)
c.54702T>G (p.Pro18234=)
c.54327T>G (p.Pro18109=)
c.81522T>G (p.Pro27174=)
c.76599T>G (p.Pro25533=)
n.447-6690A>C
n.2044-17962A>C
c.80619T>G (p.Pro26873=)
c.54513T>G (p.Pro18171=)
c.54372T>G (p.Pro18124=)
c.80415T>G (p.Pro26805=)
c.75813T>G (p.Pro25271=)
c.75810T>G (p.Pro25270=)
c.72852T>G (p.Pro24284=)
c.54468T>G (p.Pro18156=)
c.75963T>G (p.Pro25321=)
c.75960T>G (p.Pro25320=)
c.75393T>G (p.Pro25131=)
c.72735T>G (p.Pro24245=)
c.72654T>G (p.Pro24218=)
c.54417T>G (p.Pro18139=)
c.44271T>G (p.Pro14757=)
2g.178564610A>GCA430251117TTN,TTN-AS1c.73818T>C (p.Pro24606=)
c.54903T>C (p.Pro18301=)
c.54702T>C (p.Pro18234=)
c.54327T>C (p.Pro18109=)
c.81522T>C (p.Pro27174=)
c.76599T>C (p.Pro25533=)
n.447-6690A>G
n.2044-17962A>G
c.80619T>C (p.Pro26873=)
c.54513T>C (p.Pro18171=)
c.54372T>C (p.Pro18124=)
c.80415T>C (p.Pro26805=)
c.75813T>C (p.Pro25271=)
c.75810T>C (p.Pro25270=)
c.72852T>C (p.Pro24284=)
c.54468T>C (p.Pro18156=)
c.75963T>C (p.Pro25321=)
c.75960T>C (p.Pro25320=)
c.75393T>C (p.Pro25131=)
c.72735T>C (p.Pro24245=)
c.72654T>C (p.Pro24218=)
c.54417T>C (p.Pro18139=)
c.44271T>C (p.Pro14757=)
2g.178564610A>TCA430251118TTN,TTN-AS1c.73818T>A (p.Pro24606=)
c.54903T>A (p.Pro18301=)
c.54702T>A (p.Pro18234=)
c.54327T>A (p.Pro18109=)
c.81522T>A (p.Pro27174=)
c.76599T>A (p.Pro25533=)
n.447-6690A>T
n.2044-17962A>T
c.80619T>A (p.Pro26873=)
c.54513T>A (p.Pro18171=)
c.54372T>A (p.Pro18124=)
c.80415T>A (p.Pro26805=)
c.75813T>A (p.Pro25271=)
c.75810T>A (p.Pro25270=)
c.72852T>A (p.Pro24284=)
c.54468T>A (p.Pro18156=)
c.75963T>A (p.Pro25321=)
c.75960T>A (p.Pro25320=)
c.75393T>A (p.Pro25131=)
c.72735T>A (p.Pro24245=)
c.72654T>A (p.Pro24218=)
c.54417T>A (p.Pro18139=)
c.44271T>A (p.Pro14757=)
2g.178564610_178564611delinsAGCA1310528359TTN,TTN-AS1c.73817_73818delinsCT (p.Pro24606=)
c.54902_54903delinsCT (p.Pro18301=)
c.54701_54702delinsCT (p.Pro18234=)
c.54326_54327delinsCT (p.Pro18109=)
c.81521_81522delinsCT (p.Pro27174=)
c.76598_76599delinsCT (p.Pro25533=)
n.447-6690_447-6689delinsAG
n.2044-17962_2044-17961delinsAG
c.80618_80619delinsCT (p.Pro26873=)
c.54512_54513delinsCT (p.Pro18171=)
c.54371_54372delinsCT (p.Pro18124=)
c.80414_80415delinsCT (p.Pro26805=)
c.75812_75813delinsCT (p.Pro25271=)
c.75809_75810delinsCT (p.Pro25270=)
c.72851_72852delinsCT (p.Pro24284=)
c.54467_54468delinsCT (p.Pro18156=)
c.75962_75963delinsCT (p.Pro25321=)
c.75959_75960delinsCT (p.Pro25320=)
c.75392_75393delinsCT (p.Pro25131=)
c.72734_72735delinsCT (p.Pro24245=)
c.72653_72654delinsCT (p.Pro24218=)
c.54416_54417delinsCT (p.Pro18139=)
c.44270_44271delinsCT (p.Pro14757=)
2g.178564611G>ACA349581321TTN,TTN-AS1c.73817C>T (p.Pro24606Leu)
c.54902C>T (p.Pro18301Leu)
c.54701C>T (p.Pro18234Leu)
c.54326C>T (p.Pro18109Leu)
c.81521C>T (p.Pro27174Leu)
c.76598C>T (p.Pro25533Leu)
n.447-6689G>A
n.2044-17961G>A
c.80618C>T (p.Pro26873Leu)
c.54512C>T (p.Pro18171Leu)
c.54371C>T (p.Pro18124Leu)
c.80414C>T (p.Pro26805Leu)
c.75812C>T (p.Pro25271Leu)
c.75809C>T (p.Pro25270Leu)
c.72851C>T (p.Pro24284Leu)
c.54467C>T (p.Pro18156Leu)
c.75962C>T (p.Pro25321Leu)
c.75959C>T (p.Pro25320Leu)
c.75392C>T (p.Pro25131Leu)
c.72734C>T (p.Pro24245Leu)
c.72653C>T (p.Pro24218Leu)
c.54416C>T (p.Pro18139Leu)
c.44270C>T (p.Pro14757Leu)
 gnomAD v4
2g.178564611G>CCA349581322TTN,TTN-AS1c.73817C>G (p.Pro24606Arg)
c.54902C>G (p.Pro18301Arg)
c.54701C>G (p.Pro18234Arg)
c.54326C>G (p.Pro18109Arg)
c.81521C>G (p.Pro27174Arg)
c.76598C>G (p.Pro25533Arg)
n.447-6689G>C
n.2044-17961G>C
c.80618C>G (p.Pro26873Arg)
c.54512C>G (p.Pro18171Arg)
c.54371C>G (p.Pro18124Arg)
c.80414C>G (p.Pro26805Arg)
c.75812C>G (p.Pro25271Arg)
c.75809C>G (p.Pro25270Arg)
c.72851C>G (p.Pro24284Arg)
c.54467C>G (p.Pro18156Arg)
c.75962C>G (p.Pro25321Arg)
c.75959C>G (p.Pro25320Arg)
c.75392C>G (p.Pro25131Arg)
c.72734C>G (p.Pro24245Arg)
c.72653C>G (p.Pro24218Arg)
c.54416C>G (p.Pro18139Arg)
c.44270C>G (p.Pro14757Arg)
 gnomAD v4
2g.178564611G>TCA349581323TTN,TTN-AS1c.73817C>A (p.Pro24606His)
c.54902C>A (p.Pro18301His)
c.54701C>A (p.Pro18234His)
c.54326C>A (p.Pro18109His)
c.81521C>A (p.Pro27174His)
c.76598C>A (p.Pro25533His)
n.447-6689G>T
n.2044-17961G>T
c.80618C>A (p.Pro26873His)
c.54512C>A (p.Pro18171His)
c.54371C>A (p.Pro18124His)
c.80414C>A (p.Pro26805His)
c.75812C>A (p.Pro25271His)
c.75809C>A (p.Pro25270His)
c.72851C>A (p.Pro24284His)
c.54467C>A (p.Pro18156His)
c.75962C>A (p.Pro25321His)
c.75959C>A (p.Pro25320His)
c.75392C>A (p.Pro25131His)
c.72734C>A (p.Pro24245His)
c.72653C>A (p.Pro24218His)
c.54416C>A (p.Pro18139His)
c.44270C>A (p.Pro14757His)
2g.178564612delCA658796020TTN,TTN-AS1c.73817del (p.Pro24606LeufsTer16)
c.54902del (p.Pro18301LeufsTer16)
c.54701del (p.Pro18234LeufsTer16)
c.54326del (p.Pro18109LeufsTer16)
c.81521del (p.Pro27174LeufsTer16)
c.76598del (p.Pro25533LeufsTer16)
n.447-6688del
n.2044-17960del
c.80618del (p.Pro26873LeufsTer16)
c.54512del (p.Pro18171LeufsTer16)
c.54371del (p.Pro18124LeufsTer16)
c.80414del (p.Pro26805LeufsTer16)
c.75812del (p.Pro25271LeufsTer16)
c.75809del (p.Pro25270LeufsTer16)
c.72851del (p.Pro24284LeufsTer16)
c.54467del (p.Pro18156LeufsTer16)
c.75962del (p.Pro25321LeufsTer16)
c.75959del (p.Pro25320LeufsTer16)
c.75392del (p.Pro25131LeufsTer16)
c.72734del (p.Pro24245LeufsTer16)
c.72653del (p.Pro24218LeufsTer16)
c.54416del (p.Pro18139LeufsTer16)
c.44270del (p.Pro14757LeufsTer16)
 ClinVar dbSNP
2g.178564612G>ACA349581326TTN,TTN-AS1c.73816C>T (p.Pro24606Ser)
c.54901C>T (p.Pro18301Ser)
c.54700C>T (p.Pro18234Ser)
c.54325C>T (p.Pro18109Ser)
c.81520C>T (p.Pro27174Ser)
c.76597C>T (p.Pro25533Ser)
n.447-6688G>A
n.2044-17960G>A
c.80617C>T (p.Pro26873Ser)
c.54511C>T (p.Pro18171Ser)
c.54370C>T (p.Pro18124Ser)
c.80413C>T (p.Pro26805Ser)
c.75811C>T (p.Pro25271Ser)
c.75808C>T (p.Pro25270Ser)
c.72850C>T (p.Pro24284Ser)
c.54466C>T (p.Pro18156Ser)
c.75961C>T (p.Pro25321Ser)
c.75958C>T (p.Pro25320Ser)
c.75391C>T (p.Pro25131Ser)
c.72733C>T (p.Pro24245Ser)
c.72652C>T (p.Pro24218Ser)
c.54415C>T (p.Pro18139Ser)
c.44269C>T (p.Pro14757Ser)
2g.178564612G>CCA349581324TTN,TTN-AS1c.73816C>G (p.Pro24606Ala)
c.54901C>G (p.Pro18301Ala)
c.54700C>G (p.Pro18234Ala)
c.54325C>G (p.Pro18109Ala)
c.81520C>G (p.Pro27174Ala)
c.76597C>G (p.Pro25533Ala)
n.447-6688G>C
n.2044-17960G>C
c.80617C>G (p.Pro26873Ala)
c.54511C>G (p.Pro18171Ala)
c.54370C>G (p.Pro18124Ala)
c.80413C>G (p.Pro26805Ala)
c.75811C>G (p.Pro25271Ala)
c.75808C>G (p.Pro25270Ala)
c.72850C>G (p.Pro24284Ala)
c.54466C>G (p.Pro18156Ala)
c.75961C>G (p.Pro25321Ala)
c.75958C>G (p.Pro25320Ala)
c.75391C>G (p.Pro25131Ala)
c.72733C>G (p.Pro24245Ala)
c.72652C>G (p.Pro24218Ala)
c.54415C>G (p.Pro18139Ala)
c.44269C>G (p.Pro14757Ala)
2g.178564612G>TCA349581325TTN,TTN-AS1c.73816C>A (p.Pro24606Thr)
c.54901C>A (p.Pro18301Thr)
c.54700C>A (p.Pro18234Thr)
c.54325C>A (p.Pro18109Thr)
c.81520C>A (p.Pro27174Thr)
c.76597C>A (p.Pro25533Thr)
n.447-6688G>T
n.2044-17960G>T
c.80617C>A (p.Pro26873Thr)
c.54511C>A (p.Pro18171Thr)
c.54370C>A (p.Pro18124Thr)
c.80413C>A (p.Pro26805Thr)
c.75811C>A (p.Pro25271Thr)
c.75808C>A (p.Pro25270Thr)
c.72850C>A (p.Pro24284Thr)
c.54466C>A (p.Pro18156Thr)
c.75961C>A (p.Pro25321Thr)
c.75958C>A (p.Pro25320Thr)
c.75391C>A (p.Pro25131Thr)
c.72733C>A (p.Pro24245Thr)
c.72652C>A (p.Pro24218Thr)
c.54415C>A (p.Pro18139Thr)
c.44269C>A (p.Pro14757Thr)
2g.178564613T>ACA430251126TTN,TTN-AS1c.73815A>T (p.Pro24605=)
c.54900A>T (p.Pro18300=)
c.54699A>T (p.Pro18233=)
c.54324A>T (p.Pro18108=)
c.81519A>T (p.Pro27173=)
c.76596A>T (p.Pro25532=)
n.447-6687T>A
n.2044-17959T>A
c.80616A>T (p.Pro26872=)
c.54510A>T (p.Pro18170=)
c.54369A>T (p.Pro18123=)
c.80412A>T (p.Pro26804=)
c.75810A>T (p.Pro25270=)
c.75807A>T (p.Pro25269=)
c.72849A>T (p.Pro24283=)
c.54465A>T (p.Pro18155=)
c.75960A>T (p.Pro25320=)
c.75957A>T (p.Pro25319=)
c.75390A>T (p.Pro25130=)
c.72732A>T (p.Pro24244=)
c.72651A>T (p.Pro24217=)
c.54414A>T (p.Pro18138=)
c.44268A>T (p.Pro14756=)
2g.178564613T>CCA430251125TTN,TTN-AS1c.73815A>G (p.Pro24605=)
c.54900A>G (p.Pro18300=)
c.54699A>G (p.Pro18233=)
c.54324A>G (p.Pro18108=)
c.81519A>G (p.Pro27173=)
c.76596A>G (p.Pro25532=)
n.447-6687T>C
n.2044-17959T>C
c.80616A>G (p.Pro26872=)
c.54510A>G (p.Pro18170=)
c.54369A>G (p.Pro18123=)
c.80412A>G (p.Pro26804=)
c.75810A>G (p.Pro25270=)
c.75807A>G (p.Pro25269=)
c.72849A>G (p.Pro24283=)
c.54465A>G (p.Pro18155=)
c.75960A>G (p.Pro25320=)
c.75957A>G (p.Pro25319=)
c.75390A>G (p.Pro25130=)
c.72732A>G (p.Pro24244=)
c.72651A>G (p.Pro24217=)
c.54414A>G (p.Pro18138=)
c.44268A>G (p.Pro14756=)
 dbSNP
2g.178564613T>GCA430251122TTN,TTN-AS1c.73815A>C (p.Pro24605=)
c.54900A>C (p.Pro18300=)
c.54699A>C (p.Pro18233=)
c.54324A>C (p.Pro18108=)
c.81519A>C (p.Pro27173=)
c.76596A>C (p.Pro25532=)
n.447-6687T>G
n.2044-17959T>G
c.80616A>C (p.Pro26872=)
c.54510A>C (p.Pro18170=)
c.54369A>C (p.Pro18123=)
c.80412A>C (p.Pro26804=)
c.75810A>C (p.Pro25270=)
c.75807A>C (p.Pro25269=)
c.72849A>C (p.Pro24283=)
c.54465A>C (p.Pro18155=)
c.75960A>C (p.Pro25320=)
c.75957A>C (p.Pro25319=)
c.75390A>C (p.Pro25130=)
c.72732A>C (p.Pro24244=)
c.72651A>C (p.Pro24217=)
c.54414A>C (p.Pro18138=)
c.44268A>C (p.Pro14756=)
 dbSNP
2g.178564613T=CA1310528363TTN,TTN-AS1c.73815A= (p.Pro24605=)
c.54900A= (p.Pro18300=)
c.54699A= (p.Pro18233=)
c.54324A= (p.Pro18108=)
c.81519A= (p.Pro27173=)
c.76596A= (p.Pro25532=)
n.447-6687T=
n.2044-17959T=
c.80616A= (p.Pro26872=)
c.54510A= (p.Pro18170=)
c.54369A= (p.Pro18123=)
c.80412A= (p.Pro26804=)
c.75810A= (p.Pro25270=)
c.75807A= (p.Pro25269=)
c.72849A= (p.Pro24283=)
c.54465A= (p.Pro18155=)
c.75960A= (p.Pro25320=)
c.75957A= (p.Pro25319=)
c.75390A= (p.Pro25130=)
c.72732A= (p.Pro24244=)
c.72651A= (p.Pro24217=)
c.54414A= (p.Pro18138=)
c.44268A= (p.Pro14756=)
2g.178564613_178564614delinsTGCA1310528362TTN,TTN-AS1c.73814_73815delinsCA (p.Pro24605=)
c.54899_54900delinsCA (p.Pro18300=)
c.54698_54699delinsCA (p.Pro18233=)
c.54323_54324delinsCA (p.Pro18108=)
c.81518_81519delinsCA (p.Pro27173=)
c.76595_76596delinsCA (p.Pro25532=)
n.447-6687_447-6686delinsTG
n.2044-17959_2044-17958delinsTG
c.80615_80616delinsCA (p.Pro26872=)
c.54509_54510delinsCA (p.Pro18170=)
c.54368_54369delinsCA (p.Pro18123=)
c.80411_80412delinsCA (p.Pro26804=)
c.75809_75810delinsCA (p.Pro25270=)
c.75806_75807delinsCA (p.Pro25269=)
c.72848_72849delinsCA (p.Pro24283=)
c.54464_54465delinsCA (p.Pro18155=)
c.75959_75960delinsCA (p.Pro25320=)
c.75956_75957delinsCA (p.Pro25319=)
c.75389_75390delinsCA (p.Pro25130=)
c.72731_72732delinsCA (p.Pro24244=)
c.72650_72651delinsCA (p.Pro24217=)
c.54413_54414delinsCA (p.Pro18138=)
c.44267_44268delinsCA (p.Pro14756=)
2g.178564614G>ACA60988203TTN,TTN-AS1c.73814C>T (p.Pro24605Leu)
c.54899C>T (p.Pro18300Leu)
c.54698C>T (p.Pro18233Leu)
c.54323C>T (p.Pro18108Leu)
c.81518C>T (p.Pro27173Leu)
c.76595C>T (p.Pro25532Leu)
n.447-6686G>A
n.2044-17958G>A
c.80615C>T (p.Pro26872Leu)
c.54509C>T (p.Pro18170Leu)
c.54368C>T (p.Pro18123Leu)
c.80411C>T (p.Pro26804Leu)
c.75809C>T (p.Pro25270Leu)
c.75806C>T (p.Pro25269Leu)
c.72848C>T (p.Pro24283Leu)
c.54464C>T (p.Pro18155Leu)
c.75959C>T (p.Pro25320Leu)
c.75956C>T (p.Pro25319Leu)
c.75389C>T (p.Pro25130Leu)
c.72731C>T (p.Pro24244Leu)
c.72650C>T (p.Pro24217Leu)
c.54413C>T (p.Pro18138Leu)
c.44267C>T (p.Pro14756Leu)
 dbSNP gnomAD v4
2g.178564614G>CCA349581327TTN,TTN-AS1c.73814C>G (p.Pro24605Arg)
c.54899C>G (p.Pro18300Arg)
c.54698C>G (p.Pro18233Arg)
c.54323C>G (p.Pro18108Arg)
c.81518C>G (p.Pro27173Arg)
c.76595C>G (p.Pro25532Arg)
n.447-6686G>C
n.2044-17958G>C
c.80615C>G (p.Pro26872Arg)
c.54509C>G (p.Pro18170Arg)
c.54368C>G (p.Pro18123Arg)
c.80411C>G (p.Pro26804Arg)
c.75809C>G (p.Pro25270Arg)
c.75806C>G (p.Pro25269Arg)
c.72848C>G (p.Pro24283Arg)
c.54464C>G (p.Pro18155Arg)
c.75959C>G (p.Pro25320Arg)
c.75956C>G (p.Pro25319Arg)
c.75389C>G (p.Pro25130Arg)
c.72731C>G (p.Pro24244Arg)
c.72650C>G (p.Pro24217Arg)
c.54413C>G (p.Pro18138Arg)
c.44267C>G (p.Pro14756Arg)
2g.178564614G=CA1310528365TTN,TTN-AS1c.73814C= (p.Pro24605=)
c.54899C= (p.Pro18300=)
c.54698C= (p.Pro18233=)
c.54323C= (p.Pro18108=)
c.81518C= (p.Pro27173=)
c.76595C= (p.Pro25532=)
n.447-6686G=
n.2044-17958G=
c.80615C= (p.Pro26872=)
c.54509C= (p.Pro18170=)
c.54368C= (p.Pro18123=)
c.80411C= (p.Pro26804=)
c.75809C= (p.Pro25270=)
c.75806C= (p.Pro25269=)
c.72848C= (p.Pro24283=)
c.54464C= (p.Pro18155=)
c.75959C= (p.Pro25320=)
c.75956C= (p.Pro25319=)
c.75389C= (p.Pro25130=)
c.72731C= (p.Pro24244=)
c.72650C= (p.Pro24217=)
c.54413C= (p.Pro18138=)
c.44267C= (p.Pro14756=)
2g.178564614G>TCA349581328TTN,TTN-AS1c.73814C>A (p.Pro24605Gln)
c.54899C>A (p.Pro18300Gln)
c.54698C>A (p.Pro18233Gln)
c.54323C>A (p.Pro18108Gln)
c.81518C>A (p.Pro27173Gln)
c.76595C>A (p.Pro25532Gln)
n.447-6686G>T
n.2044-17958G>T
c.80615C>A (p.Pro26872Gln)
c.54509C>A (p.Pro18170Gln)
c.54368C>A (p.Pro18123Gln)
c.80411C>A (p.Pro26804Gln)
c.75809C>A (p.Pro25270Gln)
c.75806C>A (p.Pro25269Gln)
c.72848C>A (p.Pro24283Gln)
c.54464C>A (p.Pro18155Gln)
c.75959C>A (p.Pro25320Gln)
c.75956C>A (p.Pro25319Gln)
c.75389C>A (p.Pro25130Gln)
c.72731C>A (p.Pro24244Gln)
c.72650C>A (p.Pro24217Gln)
c.54413C>A (p.Pro18138Gln)
c.44267C>A (p.Pro14756Gln)
2g.178564616delCA353040TTN,TTN-AS1c.73814del (p.Pro24605HisfsTer17)
c.54899del (p.Pro18300HisfsTer17)
c.54698del (p.Pro18233HisfsTer17)
c.54323del (p.Pro18108HisfsTer17)
c.81518del (p.Pro27173HisfsTer17)
c.76595del (p.Pro25532HisfsTer17)
n.447-6684del
n.2044-17956del
c.80615del (p.Pro26872HisfsTer17)
c.54509del (p.Pro18170HisfsTer17)
c.54368del (p.Pro18123HisfsTer17)
c.80411del (p.Pro26804HisfsTer17)
c.75809del (p.Pro25270HisfsTer17)
c.75806del (p.Pro25269HisfsTer17)
c.72848del (p.Pro24283HisfsTer17)
c.54464del (p.Pro18155HisfsTer17)
c.75959del (p.Pro25320HisfsTer17)
c.75956del (p.Pro25319HisfsTer17)
c.75389del (p.Pro25130HisfsTer17)
c.72731del (p.Pro24244HisfsTer17)
c.72650del (p.Pro24217HisfsTer17)
c.54413del (p.Pro18138HisfsTer17)
c.44267del (p.Pro14756HisfsTer17)
 ClinVar dbSNP
2g.178564615G>ACA349581329TTN,TTN-AS1c.73813C>T (p.Pro24605Ser)
c.54898C>T (p.Pro18300Ser)
c.54697C>T (p.Pro18233Ser)
c.54322C>T (p.Pro18108Ser)
c.81517C>T (p.Pro27173Ser)
c.76594C>T (p.Pro25532Ser)
n.447-6685G>A
n.2044-17957G>A
c.80614C>T (p.Pro26872Ser)
c.54508C>T (p.Pro18170Ser)
c.54367C>T (p.Pro18123Ser)
c.80410C>T (p.Pro26804Ser)
c.75808C>T (p.Pro25270Ser)
c.75805C>T (p.Pro25269Ser)
c.72847C>T (p.Pro24283Ser)
c.54463C>T (p.Pro18155Ser)
c.75958C>T (p.Pro25320Ser)
c.75955C>T (p.Pro25319Ser)
c.75388C>T (p.Pro25130Ser)
c.72730C>T (p.Pro24244Ser)
c.72649C>T (p.Pro24217Ser)
c.54412C>T (p.Pro18138Ser)
c.44266C>T (p.Pro14756Ser)
2g.178564615G>CCA1989199TTN,TTN-AS1c.73813C>G (p.Pro24605Ala)
c.54898C>G (p.Pro18300Ala)
c.54697C>G (p.Pro18233Ala)
c.54322C>G (p.Pro18108Ala)
c.81517C>G (p.Pro27173Ala)
c.76594C>G (p.Pro25532Ala)
n.447-6685G>C
n.2044-17957G>C
c.80614C>G (p.Pro26872Ala)
c.54508C>G (p.Pro18170Ala)
c.54367C>G (p.Pro18123Ala)
c.80410C>G (p.Pro26804Ala)
c.75808C>G (p.Pro25270Ala)
c.75805C>G (p.Pro25269Ala)
c.72847C>G (p.Pro24283Ala)
c.54463C>G (p.Pro18155Ala)
c.75958C>G (p.Pro25320Ala)
c.75955C>G (p.Pro25319Ala)
c.75388C>G (p.Pro25130Ala)
c.72730C>G (p.Pro24244Ala)
c.72649C>G (p.Pro24217Ala)
c.54412C>G (p.Pro18138Ala)
c.44266C>G (p.Pro14756Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178564615G=CA1310528367TTN,TTN-AS1c.73813C= (p.Pro24605=)
c.54898C= (p.Pro18300=)
c.54697C= (p.Pro18233=)
c.54322C= (p.Pro18108=)
c.81517C= (p.Pro27173=)
c.76594C= (p.Pro25532=)
n.447-6685G=
n.2044-17957G=
c.80614C= (p.Pro26872=)
c.54508C= (p.Pro18170=)
c.54367C= (p.Pro18123=)
c.80410C= (p.Pro26804=)
c.75808C= (p.Pro25270=)
c.75805C= (p.Pro25269=)
c.72847C= (p.Pro24283=)
c.54463C= (p.Pro18155=)
c.75958C= (p.Pro25320=)
c.75955C= (p.Pro25319=)
c.75388C= (p.Pro25130=)
c.72730C= (p.Pro24244=)
c.72649C= (p.Pro24217=)
c.54412C= (p.Pro18138=)
c.44266C= (p.Pro14756=)
2g.178564615G>TCA349581330TTN,TTN-AS1c.73813C>A (p.Pro24605Thr)
c.54898C>A (p.Pro18300Thr)
c.54697C>A (p.Pro18233Thr)
c.54322C>A (p.Pro18108Thr)
c.81517C>A (p.Pro27173Thr)
c.76594C>A (p.Pro25532Thr)
n.447-6685G>T
n.2044-17957G>T
c.80614C>A (p.Pro26872Thr)
c.54508C>A (p.Pro18170Thr)
c.54367C>A (p.Pro18123Thr)
c.80410C>A (p.Pro26804Thr)
c.75808C>A (p.Pro25270Thr)
c.75805C>A (p.Pro25269Thr)
c.72847C>A (p.Pro24283Thr)
c.54463C>A (p.Pro18155Thr)
c.75958C>A (p.Pro25320Thr)
c.75955C>A (p.Pro25319Thr)
c.75388C>A (p.Pro25130Thr)
c.72730C>A (p.Pro24244Thr)
c.72649C>A (p.Pro24217Thr)
c.54412C>A (p.Pro18138Thr)
c.44266C>A (p.Pro14756Thr)
2g.178564616G>ACA430251129TTN,TTN-AS1c.73812C>T (p.Asp24604=)
c.54897C>T (p.Asp18299=)
c.54696C>T (p.Asp18232=)
c.54321C>T (p.Asp18107=)
c.81516C>T (p.Asp27172=)
c.76593C>T (p.Asp25531=)
n.447-6684G>A
n.2044-17956G>A
c.80613C>T (p.Asp26871=)
c.54507C>T (p.Asp18169=)
c.54366C>T (p.Asp18122=)
c.80409C>T (p.Asp26803=)
c.75807C>T (p.Asp25269=)
c.75804C>T (p.Asp25268=)
c.72846C>T (p.Asp24282=)
c.54462C>T (p.Asp18154=)
c.75957C>T (p.Asp25319=)
c.75954C>T (p.Asp25318=)
c.75387C>T (p.Asp25129=)
c.72729C>T (p.Asp24243=)
c.72648C>T (p.Asp24216=)
c.54411C>T (p.Asp18137=)
c.44265C>T (p.Asp14755=)
2g.178564616G>CCA349581331TTN,TTN-AS1c.73812C>G (p.Asp24604Glu)
c.54897C>G (p.Asp18299Glu)
c.54696C>G (p.Asp18232Glu)
c.54321C>G (p.Asp18107Glu)
c.81516C>G (p.Asp27172Glu)
c.76593C>G (p.Asp25531Glu)
n.447-6684G>C
n.2044-17956G>C
c.80613C>G (p.Asp26871Glu)
c.54507C>G (p.Asp18169Glu)
c.54366C>G (p.Asp18122Glu)
c.80409C>G (p.Asp26803Glu)
c.75807C>G (p.Asp25269Glu)
c.75804C>G (p.Asp25268Glu)
c.72846C>G (p.Asp24282Glu)
c.54462C>G (p.Asp18154Glu)
c.75957C>G (p.Asp25319Glu)
c.75954C>G (p.Asp25318Glu)
c.75387C>G (p.Asp25129Glu)
c.72729C>G (p.Asp24243Glu)
c.72648C>G (p.Asp24216Glu)
c.54411C>G (p.Asp18137Glu)
c.44265C>G (p.Asp14755Glu)
2g.178564616G>TCA349581332TTN,TTN-AS1c.73812C>A (p.Asp24604Glu)
c.54897C>A (p.Asp18299Glu)
c.54696C>A (p.Asp18232Glu)
c.54321C>A (p.Asp18107Glu)
c.81516C>A (p.Asp27172Glu)
c.76593C>A (p.Asp25531Glu)
n.447-6684G>T
n.2044-17956G>T
c.80613C>A (p.Asp26871Glu)
c.54507C>A (p.Asp18169Glu)
c.54366C>A (p.Asp18122Glu)
c.80409C>A (p.Asp26803Glu)
c.75807C>A (p.Asp25269Glu)
c.75804C>A (p.Asp25268Glu)
c.72846C>A (p.Asp24282Glu)
c.54462C>A (p.Asp18154Glu)
c.75957C>A (p.Asp25319Glu)
c.75954C>A (p.Asp25318Glu)
c.75387C>A (p.Asp25129Glu)
c.72729C>A (p.Asp24243Glu)
c.72648C>A (p.Asp24216Glu)
c.54411C>A (p.Asp18137Glu)
c.44265C>A (p.Asp14755Glu)
2g.178564617T>ACA349581333TTN,TTN-AS1c.73811A>T (p.Asp24604Val)
c.54896A>T (p.Asp18299Val)
c.54695A>T (p.Asp18232Val)
c.54320A>T (p.Asp18107Val)
c.81515A>T (p.Asp27172Val)
c.76592A>T (p.Asp25531Val)
n.447-6683T>A
n.2044-17955T>A
c.80612A>T (p.Asp26871Val)
c.54506A>T (p.Asp18169Val)
c.54365A>T (p.Asp18122Val)
c.80408A>T (p.Asp26803Val)
c.75806A>T (p.Asp25269Val)
c.75803A>T (p.Asp25268Val)
c.72845A>T (p.Asp24282Val)
c.54461A>T (p.Asp18154Val)
c.75956A>T (p.Asp25319Val)
c.75953A>T (p.Asp25318Val)
c.75386A>T (p.Asp25129Val)
c.72728A>T (p.Asp24243Val)
c.72647A>T (p.Asp24216Val)
c.54410A>T (p.Asp18137Val)
c.44264A>T (p.Asp14755Val)
 ClinVar gnomAD v4
2g.178564617T>CCA349581334TTN,TTN-AS1c.73811A>G (p.Asp24604Gly)
c.54896A>G (p.Asp18299Gly)
c.54695A>G (p.Asp18232Gly)
c.54320A>G (p.Asp18107Gly)
c.81515A>G (p.Asp27172Gly)
c.76592A>G (p.Asp25531Gly)
n.447-6683T>C
n.2044-17955T>C
c.80612A>G (p.Asp26871Gly)
c.54506A>G (p.Asp18169Gly)
c.54365A>G (p.Asp18122Gly)
c.80408A>G (p.Asp26803Gly)
c.75806A>G (p.Asp25269Gly)
c.75803A>G (p.Asp25268Gly)
c.72845A>G (p.Asp24282Gly)
c.54461A>G (p.Asp18154Gly)
c.75956A>G (p.Asp25319Gly)
c.75953A>G (p.Asp25318Gly)
c.75386A>G (p.Asp25129Gly)
c.72728A>G (p.Asp24243Gly)
c.72647A>G (p.Asp24216Gly)
c.54410A>G (p.Asp18137Gly)
c.44264A>G (p.Asp14755Gly)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched