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)

Number of alleles fetched