Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178579663C>ACA236089TTN,TTN-AS1c.59830G>T (p.Asp19944Tyr)
c.40915G>T (p.Asp13639Tyr)
c.40714G>T (p.Asp13572Tyr)
c.40339G>T (p.Asp13447Tyr)
c.67534G>T (p.Asp22512Tyr)
c.62611G>T (p.Asp20871Tyr)
n.596+8214C>A
n.2044-2909C>A
c.66631G>T (p.Asp22211Tyr)
c.40525G>T (p.Asp13509Tyr)
c.40384G>T (p.Asp13462Tyr)
c.66427G>T (p.Asp22143Tyr)
c.61825G>T (p.Asp20609Tyr)
c.61822G>T (p.Asp20608Tyr)
c.58864G>T (p.Asp19622Tyr)
c.40480G>T (p.Asp13494Tyr)
c.61975G>T (p.Asp20659Tyr)
c.61972G>T (p.Asp20658Tyr)
c.61405G>T (p.Asp20469Tyr)
c.58747G>T (p.Asp19583Tyr)
c.58666G>T (p.Asp19556Tyr)
c.40429G>T (p.Asp13477Tyr)
c.30283G>T (p.Asp10095Tyr)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178579663C=CA1310534703TTN,TTN-AS1c.59830G= (p.Asp19944=)
c.40915G= (p.Asp13639=)
c.40714G= (p.Asp13572=)
c.40339G= (p.Asp13447=)
c.67534G= (p.Asp22512=)
c.62611G= (p.Asp20871=)
n.596+8214C=
n.2044-2909C=
c.66631G= (p.Asp22211=)
c.40525G= (p.Asp13509=)
c.40384G= (p.Asp13462=)
c.66427G= (p.Asp22143=)
c.61825G= (p.Asp20609=)
c.61822G= (p.Asp20608=)
c.58864G= (p.Asp19622=)
c.40480G= (p.Asp13494=)
c.61975G= (p.Asp20659=)
c.61972G= (p.Asp20658=)
c.61405G= (p.Asp20469=)
c.58747G= (p.Asp19583=)
c.58666G= (p.Asp19556=)
c.40429G= (p.Asp13477=)
c.30283G= (p.Asp10095=)
2g.178579663C>GCA349423546TTN,TTN-AS1c.59830G>C (p.Asp19944His)
c.40915G>C (p.Asp13639His)
c.40714G>C (p.Asp13572His)
c.40339G>C (p.Asp13447His)
c.67534G>C (p.Asp22512His)
c.62611G>C (p.Asp20871His)
n.596+8214C>G
n.2044-2909C>G
c.66631G>C (p.Asp22211His)
c.40525G>C (p.Asp13509His)
c.40384G>C (p.Asp13462His)
c.66427G>C (p.Asp22143His)
c.61825G>C (p.Asp20609His)
c.61822G>C (p.Asp20608His)
c.58864G>C (p.Asp19622His)
c.40480G>C (p.Asp13494His)
c.61975G>C (p.Asp20659His)
c.61972G>C (p.Asp20658His)
c.61405G>C (p.Asp20469His)
c.58747G>C (p.Asp19583His)
c.58666G>C (p.Asp19556His)
c.40429G>C (p.Asp13477His)
c.30283G>C (p.Asp10095His)
2g.178579663C>TCA349423547TTN,TTN-AS1c.59830G>A (p.Asp19944Asn)
c.40915G>A (p.Asp13639Asn)
c.40714G>A (p.Asp13572Asn)
c.40339G>A (p.Asp13447Asn)
c.67534G>A (p.Asp22512Asn)
c.62611G>A (p.Asp20871Asn)
n.596+8214C>T
n.2044-2909C>T
c.66631G>A (p.Asp22211Asn)
c.40525G>A (p.Asp13509Asn)
c.40384G>A (p.Asp13462Asn)
c.66427G>A (p.Asp22143Asn)
c.61825G>A (p.Asp20609Asn)
c.61822G>A (p.Asp20608Asn)
c.58864G>A (p.Asp19622Asn)
c.40480G>A (p.Asp13494Asn)
c.61975G>A (p.Asp20659Asn)
c.61972G>A (p.Asp20658Asn)
c.61405G>A (p.Asp20469Asn)
c.58747G>A (p.Asp19583Asn)
c.58666G>A (p.Asp19556Asn)
c.40429G>A (p.Asp13477Asn)
c.30283G>A (p.Asp10095Asn)
2g.178579664T>ACA349423548TTN,TTN-AS1c.59829A>T (p.Lys19943Asn)
c.40914A>T (p.Lys13638Asn)
c.40713A>T (p.Lys13571Asn)
c.40338A>T (p.Lys13446Asn)
c.67533A>T (p.Lys22511Asn)
c.62610A>T (p.Lys20870Asn)
n.596+8215T>A
n.2044-2908T>A
c.66630A>T (p.Lys22210Asn)
c.40524A>T (p.Lys13508Asn)
c.40383A>T (p.Lys13461Asn)
c.66426A>T (p.Lys22142Asn)
c.61824A>T (p.Lys20608Asn)
c.61821A>T (p.Lys20607Asn)
c.58863A>T (p.Lys19621Asn)
c.40479A>T (p.Lys13493Asn)
c.61974A>T (p.Lys20658Asn)
c.61971A>T (p.Lys20657Asn)
c.61404A>T (p.Lys20468Asn)
c.58746A>T (p.Lys19582Asn)
c.58665A>T (p.Lys19555Asn)
c.40428A>T (p.Lys13476Asn)
c.30282A>T (p.Lys10094Asn)
2g.178579664T>CCA430260366TTN,TTN-AS1c.59829A>G (p.Lys19943=)
c.40914A>G (p.Lys13638=)
c.40713A>G (p.Lys13571=)
c.40338A>G (p.Lys13446=)
c.67533A>G (p.Lys22511=)
c.62610A>G (p.Lys20870=)
n.596+8215T>C
n.2044-2908T>C
c.66630A>G (p.Lys22210=)
c.40524A>G (p.Lys13508=)
c.40383A>G (p.Lys13461=)
c.66426A>G (p.Lys22142=)
c.61824A>G (p.Lys20608=)
c.61821A>G (p.Lys20607=)
c.58863A>G (p.Lys19621=)
c.40479A>G (p.Lys13493=)
c.61974A>G (p.Lys20658=)
c.61971A>G (p.Lys20657=)
c.61404A>G (p.Lys20468=)
c.58746A>G (p.Lys19582=)
c.58665A>G (p.Lys19555=)
c.40428A>G (p.Lys13476=)
c.30282A>G (p.Lys10094=)
 gnomAD v4
2g.178579664T>GCA349423549TTN,TTN-AS1c.59829A>C (p.Lys19943Asn)
c.40914A>C (p.Lys13638Asn)
c.40713A>C (p.Lys13571Asn)
c.40338A>C (p.Lys13446Asn)
c.67533A>C (p.Lys22511Asn)
c.62610A>C (p.Lys20870Asn)
n.596+8215T>G
n.2044-2908T>G
c.66630A>C (p.Lys22210Asn)
c.40524A>C (p.Lys13508Asn)
c.40383A>C (p.Lys13461Asn)
c.66426A>C (p.Lys22142Asn)
c.61824A>C (p.Lys20608Asn)
c.61821A>C (p.Lys20607Asn)
c.58863A>C (p.Lys19621Asn)
c.40479A>C (p.Lys13493Asn)
c.61974A>C (p.Lys20658Asn)
c.61971A>C (p.Lys20657Asn)
c.61404A>C (p.Lys20468Asn)
c.58746A>C (p.Lys19582Asn)
c.58665A>C (p.Lys19555Asn)
c.40428A>C (p.Lys13476Asn)
c.30282A>C (p.Lys10094Asn)
2g.178579665T>ACA349423550TTN,TTN-AS1c.59828A>T (p.Lys19943Ile)
c.40913A>T (p.Lys13638Ile)
c.40712A>T (p.Lys13571Ile)
c.40337A>T (p.Lys13446Ile)
c.67532A>T (p.Lys22511Ile)
c.62609A>T (p.Lys20870Ile)
n.596+8216T>A
n.2044-2907T>A
c.66629A>T (p.Lys22210Ile)
c.40523A>T (p.Lys13508Ile)
c.40382A>T (p.Lys13461Ile)
c.66425A>T (p.Lys22142Ile)
c.61823A>T (p.Lys20608Ile)
c.61820A>T (p.Lys20607Ile)
c.58862A>T (p.Lys19621Ile)
c.40478A>T (p.Lys13493Ile)
c.61973A>T (p.Lys20658Ile)
c.61970A>T (p.Lys20657Ile)
c.61403A>T (p.Lys20468Ile)
c.58745A>T (p.Lys19582Ile)
c.58664A>T (p.Lys19555Ile)
c.40427A>T (p.Lys13476Ile)
c.30281A>T (p.Lys10094Ile)
2g.178579665T>CCA1991293TTN,TTN-AS1c.59828A>G (p.Lys19943Arg)
c.40913A>G (p.Lys13638Arg)
c.40712A>G (p.Lys13571Arg)
c.40337A>G (p.Lys13446Arg)
c.67532A>G (p.Lys22511Arg)
c.62609A>G (p.Lys20870Arg)
n.596+8216T>C
n.2044-2907T>C
c.66629A>G (p.Lys22210Arg)
c.40523A>G (p.Lys13508Arg)
c.40382A>G (p.Lys13461Arg)
c.66425A>G (p.Lys22142Arg)
c.61823A>G (p.Lys20608Arg)
c.61820A>G (p.Lys20607Arg)
c.58862A>G (p.Lys19621Arg)
c.40478A>G (p.Lys13493Arg)
c.61973A>G (p.Lys20658Arg)
c.61970A>G (p.Lys20657Arg)
c.61403A>G (p.Lys20468Arg)
c.58745A>G (p.Lys19582Arg)
c.58664A>G (p.Lys19555Arg)
c.40427A>G (p.Lys13476Arg)
c.30281A>G (p.Lys10094Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178579665T>GCA349423551TTN,TTN-AS1c.59828A>C (p.Lys19943Thr)
c.40913A>C (p.Lys13638Thr)
c.40712A>C (p.Lys13571Thr)
c.40337A>C (p.Lys13446Thr)
c.67532A>C (p.Lys22511Thr)
c.62609A>C (p.Lys20870Thr)
n.596+8216T>G
n.2044-2907T>G
c.66629A>C (p.Lys22210Thr)
c.40523A>C (p.Lys13508Thr)
c.40382A>C (p.Lys13461Thr)
c.66425A>C (p.Lys22142Thr)
c.61823A>C (p.Lys20608Thr)
c.61820A>C (p.Lys20607Thr)
c.58862A>C (p.Lys19621Thr)
c.40478A>C (p.Lys13493Thr)
c.61973A>C (p.Lys20658Thr)
c.61970A>C (p.Lys20657Thr)
c.61403A>C (p.Lys20468Thr)
c.58745A>C (p.Lys19582Thr)
c.58664A>C (p.Lys19555Thr)
c.40427A>C (p.Lys13476Thr)
c.30281A>C (p.Lys10094Thr)
2g.178579665T=CA1310534709TTN,TTN-AS1c.59828A= (p.Lys19943=)
c.40913A= (p.Lys13638=)
c.40712A= (p.Lys13571=)
c.40337A= (p.Lys13446=)
c.67532A= (p.Lys22511=)
c.62609A= (p.Lys20870=)
n.596+8216T=
n.2044-2907T=
c.66629A= (p.Lys22210=)
c.40523A= (p.Lys13508=)
c.40382A= (p.Lys13461=)
c.66425A= (p.Lys22142=)
c.61823A= (p.Lys20608=)
c.61820A= (p.Lys20607=)
c.58862A= (p.Lys19621=)
c.40478A= (p.Lys13493=)
c.61973A= (p.Lys20658=)
c.61970A= (p.Lys20657=)
c.61403A= (p.Lys20468=)
c.58745A= (p.Lys19582=)
c.58664A= (p.Lys19555=)
c.40427A= (p.Lys13476=)
c.30281A= (p.Lys10094=)
2g.178579666T>ACA349423552TTN,TTN-AS1c.59827A>T (p.Lys19943Ter)
c.40912A>T (p.Lys13638Ter)
c.40711A>T (p.Lys13571Ter)
c.40336A>T (p.Lys13446Ter)
c.67531A>T (p.Lys22511Ter)
c.62608A>T (p.Lys20870Ter)
n.596+8217T>A
n.2044-2906T>A
c.66628A>T (p.Lys22210Ter)
c.40522A>T (p.Lys13508Ter)
c.40381A>T (p.Lys13461Ter)
c.66424A>T (p.Lys22142Ter)
c.61822A>T (p.Lys20608Ter)
c.61819A>T (p.Lys20607Ter)
c.58861A>T (p.Lys19621Ter)
c.40477A>T (p.Lys13493Ter)
c.61972A>T (p.Lys20658Ter)
c.61969A>T (p.Lys20657Ter)
c.61402A>T (p.Lys20468Ter)
c.58744A>T (p.Lys19582Ter)
c.58663A>T (p.Lys19555Ter)
c.40426A>T (p.Lys13476Ter)
c.30280A>T (p.Lys10094Ter)
2g.178579666T>CCA349423553TTN,TTN-AS1c.59827A>G (p.Lys19943Glu)
c.40912A>G (p.Lys13638Glu)
c.40711A>G (p.Lys13571Glu)
c.40336A>G (p.Lys13446Glu)
c.67531A>G (p.Lys22511Glu)
c.62608A>G (p.Lys20870Glu)
n.596+8217T>C
n.2044-2906T>C
c.66628A>G (p.Lys22210Glu)
c.40522A>G (p.Lys13508Glu)
c.40381A>G (p.Lys13461Glu)
c.66424A>G (p.Lys22142Glu)
c.61822A>G (p.Lys20608Glu)
c.61819A>G (p.Lys20607Glu)
c.58861A>G (p.Lys19621Glu)
c.40477A>G (p.Lys13493Glu)
c.61972A>G (p.Lys20658Glu)
c.61969A>G (p.Lys20657Glu)
c.61402A>G (p.Lys20468Glu)
c.58744A>G (p.Lys19582Glu)
c.58663A>G (p.Lys19555Glu)
c.40426A>G (p.Lys13476Glu)
c.30280A>G (p.Lys10094Glu)
2g.178579666T>GCA349423554TTN,TTN-AS1c.59827A>C (p.Lys19943Gln)
c.40912A>C (p.Lys13638Gln)
c.40711A>C (p.Lys13571Gln)
c.40336A>C (p.Lys13446Gln)
c.67531A>C (p.Lys22511Gln)
c.62608A>C (p.Lys20870Gln)
n.596+8217T>G
n.2044-2906T>G
c.66628A>C (p.Lys22210Gln)
c.40522A>C (p.Lys13508Gln)
c.40381A>C (p.Lys13461Gln)
c.66424A>C (p.Lys22142Gln)
c.61822A>C (p.Lys20608Gln)
c.61819A>C (p.Lys20607Gln)
c.58861A>C (p.Lys19621Gln)
c.40477A>C (p.Lys13493Gln)
c.61972A>C (p.Lys20658Gln)
c.61969A>C (p.Lys20657Gln)
c.61402A>C (p.Lys20468Gln)
c.58744A>C (p.Lys19582Gln)
c.58663A>C (p.Lys19555Gln)
c.40426A>C (p.Lys13476Gln)
c.30280A>C (p.Lys10094Gln)
2g.178579667T>ACA430260377TTN,TTN-AS1c.59826A>T (p.Ala19942=)
c.40911A>T (p.Ala13637=)
c.40710A>T (p.Ala13570=)
c.40335A>T (p.Ala13445=)
c.67530A>T (p.Ala22510=)
c.62607A>T (p.Ala20869=)
n.596+8218T>A
n.2044-2905T>A
c.66627A>T (p.Ala22209=)
c.40521A>T (p.Ala13507=)
c.40380A>T (p.Ala13460=)
c.66423A>T (p.Ala22141=)
c.61821A>T (p.Ala20607=)
c.61818A>T (p.Ala20606=)
c.58860A>T (p.Ala19620=)
c.40476A>T (p.Ala13492=)
c.61971A>T (p.Ala20657=)
c.61968A>T (p.Ala20656=)
c.61401A>T (p.Ala20467=)
c.58743A>T (p.Ala19581=)
c.58662A>T (p.Ala19554=)
c.40425A>T (p.Ala13475=)
c.30279A>T (p.Ala10093=)
2g.178579667T>CCA1991294TTN,TTN-AS1c.59826A>G (p.Ala19942=)
c.40911A>G (p.Ala13637=)
c.40710A>G (p.Ala13570=)
c.40335A>G (p.Ala13445=)
c.67530A>G (p.Ala22510=)
c.62607A>G (p.Ala20869=)
n.596+8218T>C
n.2044-2905T>C
c.66627A>G (p.Ala22209=)
c.40521A>G (p.Ala13507=)
c.40380A>G (p.Ala13460=)
c.66423A>G (p.Ala22141=)
c.61821A>G (p.Ala20607=)
c.61818A>G (p.Ala20606=)
c.58860A>G (p.Ala19620=)
c.40476A>G (p.Ala13492=)
c.61971A>G (p.Ala20657=)
c.61968A>G (p.Ala20656=)
c.61401A>G (p.Ala20467=)
c.58743A>G (p.Ala19581=)
c.58662A>G (p.Ala19554=)
c.40425A>G (p.Ala13475=)
c.30279A>G (p.Ala10093=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178579667T>GCA430260380TTN,TTN-AS1c.59826A>C (p.Ala19942=)
c.40911A>C (p.Ala13637=)
c.40710A>C (p.Ala13570=)
c.40335A>C (p.Ala13445=)
c.67530A>C (p.Ala22510=)
c.62607A>C (p.Ala20869=)
n.596+8218T>G
n.2044-2905T>G
c.66627A>C (p.Ala22209=)
c.40521A>C (p.Ala13507=)
c.40380A>C (p.Ala13460=)
c.66423A>C (p.Ala22141=)
c.61821A>C (p.Ala20607=)
c.61818A>C (p.Ala20606=)
c.58860A>C (p.Ala19620=)
c.40476A>C (p.Ala13492=)
c.61971A>C (p.Ala20657=)
c.61968A>C (p.Ala20656=)
c.61401A>C (p.Ala20467=)
c.58743A>C (p.Ala19581=)
c.58662A>C (p.Ala19554=)
c.40425A>C (p.Ala13475=)
c.30279A>C (p.Ala10093=)
 gnomAD v4
2g.178579667T=CA1310534713TTN,TTN-AS1c.59826A= (p.Ala19942=)
c.40911A= (p.Ala13637=)
c.40710A= (p.Ala13570=)
c.40335A= (p.Ala13445=)
c.67530A= (p.Ala22510=)
c.62607A= (p.Ala20869=)
n.596+8218T=
n.2044-2905T=
c.66627A= (p.Ala22209=)
c.40521A= (p.Ala13507=)
c.40380A= (p.Ala13460=)
c.66423A= (p.Ala22141=)
c.61821A= (p.Ala20607=)
c.61818A= (p.Ala20606=)
c.58860A= (p.Ala19620=)
c.40476A= (p.Ala13492=)
c.61971A= (p.Ala20657=)
c.61968A= (p.Ala20656=)
c.61401A= (p.Ala20467=)
c.58743A= (p.Ala19581=)
c.58662A= (p.Ala19554=)
c.40425A= (p.Ala13475=)
c.30279A= (p.Ala10093=)
2g.178579668G>ACA349423555TTN,TTN-AS1c.59825C>T (p.Ala19942Val)
c.40910C>T (p.Ala13637Val)
c.40709C>T (p.Ala13570Val)
c.40334C>T (p.Ala13445Val)
c.67529C>T (p.Ala22510Val)
c.62606C>T (p.Ala20869Val)
n.596+8219G>A
n.2044-2904G>A
c.66626C>T (p.Ala22209Val)
c.40520C>T (p.Ala13507Val)
c.40379C>T (p.Ala13460Val)
c.66422C>T (p.Ala22141Val)
c.61820C>T (p.Ala20607Val)
c.61817C>T (p.Ala20606Val)
c.58859C>T (p.Ala19620Val)
c.40475C>T (p.Ala13492Val)
c.61970C>T (p.Ala20657Val)
c.61967C>T (p.Ala20656Val)
c.61400C>T (p.Ala20467Val)
c.58742C>T (p.Ala19581Val)
c.58661C>T (p.Ala19554Val)
c.40424C>T (p.Ala13475Val)
c.30278C>T (p.Ala10093Val)
2g.178579668G>CCA349423557TTN,TTN-AS1c.59825C>G (p.Ala19942Gly)
c.40910C>G (p.Ala13637Gly)
c.40709C>G (p.Ala13570Gly)
c.40334C>G (p.Ala13445Gly)
c.67529C>G (p.Ala22510Gly)
c.62606C>G (p.Ala20869Gly)
n.596+8219G>C
n.2044-2904G>C
c.66626C>G (p.Ala22209Gly)
c.40520C>G (p.Ala13507Gly)
c.40379C>G (p.Ala13460Gly)
c.66422C>G (p.Ala22141Gly)
c.61820C>G (p.Ala20607Gly)
c.61817C>G (p.Ala20606Gly)
c.58859C>G (p.Ala19620Gly)
c.40475C>G (p.Ala13492Gly)
c.61970C>G (p.Ala20657Gly)
c.61967C>G (p.Ala20656Gly)
c.61400C>G (p.Ala20467Gly)
c.58742C>G (p.Ala19581Gly)
c.58661C>G (p.Ala19554Gly)
c.40424C>G (p.Ala13475Gly)
c.30278C>G (p.Ala10093Gly)
2g.178579668G>TCA349423556TTN,TTN-AS1c.59825C>A (p.Ala19942Glu)
c.40910C>A (p.Ala13637Glu)
c.40709C>A (p.Ala13570Glu)
c.40334C>A (p.Ala13445Glu)
c.67529C>A (p.Ala22510Glu)
c.62606C>A (p.Ala20869Glu)
n.596+8219G>T
n.2044-2904G>T
c.66626C>A (p.Ala22209Glu)
c.40520C>A (p.Ala13507Glu)
c.40379C>A (p.Ala13460Glu)
c.66422C>A (p.Ala22141Glu)
c.61820C>A (p.Ala20607Glu)
c.61817C>A (p.Ala20606Glu)
c.58859C>A (p.Ala19620Glu)
c.40475C>A (p.Ala13492Glu)
c.61970C>A (p.Ala20657Glu)
c.61967C>A (p.Ala20656Glu)
c.61400C>A (p.Ala20467Glu)
c.58742C>A (p.Ala19581Glu)
c.58661C>A (p.Ala19554Glu)
c.40424C>A (p.Ala13475Glu)
c.30278C>A (p.Ala10093Glu)
2g.178579669C>ACA349423558TTN,TTN-AS1c.59824G>T (p.Ala19942Ser)
c.40909G>T (p.Ala13637Ser)
c.40708G>T (p.Ala13570Ser)
c.40333G>T (p.Ala13445Ser)
c.67528G>T (p.Ala22510Ser)
c.62605G>T (p.Ala20869Ser)
n.596+8220C>A
n.2044-2903C>A
c.66625G>T (p.Ala22209Ser)
c.40519G>T (p.Ala13507Ser)
c.40378G>T (p.Ala13460Ser)
c.66421G>T (p.Ala22141Ser)
c.61819G>T (p.Ala20607Ser)
c.61816G>T (p.Ala20606Ser)
c.58858G>T (p.Ala19620Ser)
c.40474G>T (p.Ala13492Ser)
c.61969G>T (p.Ala20657Ser)
c.61966G>T (p.Ala20656Ser)
c.61399G>T (p.Ala20467Ser)
c.58741G>T (p.Ala19581Ser)
c.58660G>T (p.Ala19554Ser)
c.40423G>T (p.Ala13475Ser)
c.30277G>T (p.Ala10093Ser)
2g.178579669C=CA1310534716TTN,TTN-AS1c.59824G= (p.Ala19942=)
c.40909G= (p.Ala13637=)
c.40708G= (p.Ala13570=)
c.40333G= (p.Ala13445=)
c.67528G= (p.Ala22510=)
c.62605G= (p.Ala20869=)
n.596+8220C=
n.2044-2903C=
c.66625G= (p.Ala22209=)
c.40519G= (p.Ala13507=)
c.40378G= (p.Ala13460=)
c.66421G= (p.Ala22141=)
c.61819G= (p.Ala20607=)
c.61816G= (p.Ala20606=)
c.58858G= (p.Ala19620=)
c.40474G= (p.Ala13492=)
c.61969G= (p.Ala20657=)
c.61966G= (p.Ala20656=)
c.61399G= (p.Ala20467=)
c.58741G= (p.Ala19581=)
c.58660G= (p.Ala19554=)
c.40423G= (p.Ala13475=)
c.30277G= (p.Ala10093=)
2g.178579669C>GCA349423559TTN,TTN-AS1c.59824G>C (p.Ala19942Pro)
c.40909G>C (p.Ala13637Pro)
c.40708G>C (p.Ala13570Pro)
c.40333G>C (p.Ala13445Pro)
c.67528G>C (p.Ala22510Pro)
c.62605G>C (p.Ala20869Pro)
n.596+8220C>G
n.2044-2903C>G
c.66625G>C (p.Ala22209Pro)
c.40519G>C (p.Ala13507Pro)
c.40378G>C (p.Ala13460Pro)
c.66421G>C (p.Ala22141Pro)
c.61819G>C (p.Ala20607Pro)
c.61816G>C (p.Ala20606Pro)
c.58858G>C (p.Ala19620Pro)
c.40474G>C (p.Ala13492Pro)
c.61969G>C (p.Ala20657Pro)
c.61966G>C (p.Ala20656Pro)
c.61399G>C (p.Ala20467Pro)
c.58741G>C (p.Ala19581Pro)
c.58660G>C (p.Ala19554Pro)
c.40423G>C (p.Ala13475Pro)
c.30277G>C (p.Ala10093Pro)
2g.178579669C>TCA349423560TTN,TTN-AS1c.59824G>A (p.Ala19942Thr)
c.40909G>A (p.Ala13637Thr)
c.40708G>A (p.Ala13570Thr)
c.40333G>A (p.Ala13445Thr)
c.67528G>A (p.Ala22510Thr)
c.62605G>A (p.Ala20869Thr)
n.596+8220C>T
n.2044-2903C>T
c.66625G>A (p.Ala22209Thr)
c.40519G>A (p.Ala13507Thr)
c.40378G>A (p.Ala13460Thr)
c.66421G>A (p.Ala22141Thr)
c.61819G>A (p.Ala20607Thr)
c.61816G>A (p.Ala20606Thr)
c.58858G>A (p.Ala19620Thr)
c.40474G>A (p.Ala13492Thr)
c.61969G>A (p.Ala20657Thr)
c.61966G>A (p.Ala20656Thr)
c.61399G>A (p.Ala20467Thr)
c.58741G>A (p.Ala19581Thr)
c.58660G>A (p.Ala19554Thr)
c.40423G>A (p.Ala13475Thr)
c.30277G>A (p.Ala10093Thr)
 dbSNP gnomAD v2
2g.178579670A>CCA430260393TTN,TTN-AS1c.59823T>G (p.Ser19941=)
c.40908T>G (p.Ser13636=)
c.40707T>G (p.Ser13569=)
c.40332T>G (p.Ser13444=)
c.67527T>G (p.Ser22509=)
c.62604T>G (p.Ser20868=)
n.596+8221A>C
n.2044-2902A>C
c.66624T>G (p.Ser22208=)
c.40518T>G (p.Ser13506=)
c.40377T>G (p.Ser13459=)
c.66420T>G (p.Ser22140=)
c.61818T>G (p.Ser20606=)
c.61815T>G (p.Ser20605=)
c.58857T>G (p.Ser19619=)
c.40473T>G (p.Ser13491=)
c.61968T>G (p.Ser20656=)
c.61965T>G (p.Ser20655=)
c.61398T>G (p.Ser20466=)
c.58740T>G (p.Ser19580=)
c.58659T>G (p.Ser19553=)
c.40422T>G (p.Ser13474=)
c.30276T>G (p.Ser10092=)
2g.178579670A>GCA430260389TTN,TTN-AS1c.59823T>C (p.Ser19941=)
c.40908T>C (p.Ser13636=)
c.40707T>C (p.Ser13569=)
c.40332T>C (p.Ser13444=)
c.67527T>C (p.Ser22509=)
c.62604T>C (p.Ser20868=)
n.596+8221A>G
n.2044-2902A>G
c.66624T>C (p.Ser22208=)
c.40518T>C (p.Ser13506=)
c.40377T>C (p.Ser13459=)
c.66420T>C (p.Ser22140=)
c.61818T>C (p.Ser20606=)
c.61815T>C (p.Ser20605=)
c.58857T>C (p.Ser19619=)
c.40473T>C (p.Ser13491=)
c.61968T>C (p.Ser20656=)
c.61965T>C (p.Ser20655=)
c.61398T>C (p.Ser20466=)
c.58740T>C (p.Ser19580=)
c.58659T>C (p.Ser19553=)
c.40422T>C (p.Ser13474=)
c.30276T>C (p.Ser10092=)
2g.178579670A>TCA430260391TTN,TTN-AS1c.59823T>A (p.Ser19941=)
c.40908T>A (p.Ser13636=)
c.40707T>A (p.Ser13569=)
c.40332T>A (p.Ser13444=)
c.67527T>A (p.Ser22509=)
c.62604T>A (p.Ser20868=)
n.596+8221A>T
n.2044-2902A>T
c.66624T>A (p.Ser22208=)
c.40518T>A (p.Ser13506=)
c.40377T>A (p.Ser13459=)
c.66420T>A (p.Ser22140=)
c.61818T>A (p.Ser20606=)
c.61815T>A (p.Ser20605=)
c.58857T>A (p.Ser19619=)
c.40473T>A (p.Ser13491=)
c.61968T>A (p.Ser20656=)
c.61965T>A (p.Ser20655=)
c.61398T>A (p.Ser20466=)
c.58740T>A (p.Ser19580=)
c.58659T>A (p.Ser19553=)
c.40422T>A (p.Ser13474=)
c.30276T>A (p.Ser10092=)
2g.178579671G>ACA60957023TTN,TTN-AS1c.59822C>T (p.Ser19941Phe)
c.40907C>T (p.Ser13636Phe)
c.40706C>T (p.Ser13569Phe)
c.40331C>T (p.Ser13444Phe)
c.67526C>T (p.Ser22509Phe)
c.62603C>T (p.Ser20868Phe)
n.596+8222G>A
n.2044-2901G>A
c.66623C>T (p.Ser22208Phe)
c.40517C>T (p.Ser13506Phe)
c.40376C>T (p.Ser13459Phe)
c.66419C>T (p.Ser22140Phe)
c.61817C>T (p.Ser20606Phe)
c.61814C>T (p.Ser20605Phe)
c.58856C>T (p.Ser19619Phe)
c.40472C>T (p.Ser13491Phe)
c.61967C>T (p.Ser20656Phe)
c.61964C>T (p.Ser20655Phe)
c.61397C>T (p.Ser20466Phe)
c.58739C>T (p.Ser19580Phe)
c.58658C>T (p.Ser19553Phe)
c.40421C>T (p.Ser13474Phe)
c.30275C>T (p.Ser10092Phe)
 dbSNP
2g.178579671G>CCA349423561TTN,TTN-AS1c.59822C>G (p.Ser19941Cys)
c.40907C>G (p.Ser13636Cys)
c.40706C>G (p.Ser13569Cys)
c.40331C>G (p.Ser13444Cys)
c.67526C>G (p.Ser22509Cys)
c.62603C>G (p.Ser20868Cys)
n.596+8222G>C
n.2044-2901G>C
c.66623C>G (p.Ser22208Cys)
c.40517C>G (p.Ser13506Cys)
c.40376C>G (p.Ser13459Cys)
c.66419C>G (p.Ser22140Cys)
c.61817C>G (p.Ser20606Cys)
c.61814C>G (p.Ser20605Cys)
c.58856C>G (p.Ser19619Cys)
c.40472C>G (p.Ser13491Cys)
c.61967C>G (p.Ser20656Cys)
c.61964C>G (p.Ser20655Cys)
c.61397C>G (p.Ser20466Cys)
c.58739C>G (p.Ser19580Cys)
c.58658C>G (p.Ser19553Cys)
c.40421C>G (p.Ser13474Cys)
c.30275C>G (p.Ser10092Cys)
2g.178579671G=CA1310534718TTN,TTN-AS1c.59822C= (p.Ser19941=)
c.40907C= (p.Ser13636=)
c.40706C= (p.Ser13569=)
c.40331C= (p.Ser13444=)
c.67526C= (p.Ser22509=)
c.62603C= (p.Ser20868=)
n.596+8222G=
n.2044-2901G=
c.66623C= (p.Ser22208=)
c.40517C= (p.Ser13506=)
c.40376C= (p.Ser13459=)
c.66419C= (p.Ser22140=)
c.61817C= (p.Ser20606=)
c.61814C= (p.Ser20605=)
c.58856C= (p.Ser19619=)
c.40472C= (p.Ser13491=)
c.61967C= (p.Ser20656=)
c.61964C= (p.Ser20655=)
c.61397C= (p.Ser20466=)
c.58739C= (p.Ser19580=)
c.58658C= (p.Ser19553=)
c.40421C= (p.Ser13474=)
c.30275C= (p.Ser10092=)
2g.178579671G>TCA349423562TTN,TTN-AS1c.59822C>A (p.Ser19941Tyr)
c.40907C>A (p.Ser13636Tyr)
c.40706C>A (p.Ser13569Tyr)
c.40331C>A (p.Ser13444Tyr)
c.67526C>A (p.Ser22509Tyr)
c.62603C>A (p.Ser20868Tyr)
n.596+8222G>T
n.2044-2901G>T
c.66623C>A (p.Ser22208Tyr)
c.40517C>A (p.Ser13506Tyr)
c.40376C>A (p.Ser13459Tyr)
c.66419C>A (p.Ser22140Tyr)
c.61817C>A (p.Ser20606Tyr)
c.61814C>A (p.Ser20605Tyr)
c.58856C>A (p.Ser19619Tyr)
c.40472C>A (p.Ser13491Tyr)
c.61967C>A (p.Ser20656Tyr)
c.61964C>A (p.Ser20655Tyr)
c.61397C>A (p.Ser20466Tyr)
c.58739C>A (p.Ser19580Tyr)
c.58658C>A (p.Ser19553Tyr)
c.40421C>A (p.Ser13474Tyr)
c.30275C>A (p.Ser10092Tyr)
2g.178579672A>CCA349423563TTN,TTN-AS1c.59821T>G (p.Ser19941Ala)
c.40906T>G (p.Ser13636Ala)
c.40705T>G (p.Ser13569Ala)
c.40330T>G (p.Ser13444Ala)
c.67525T>G (p.Ser22509Ala)
c.62602T>G (p.Ser20868Ala)
n.596+8223A>C
n.2044-2900A>C
c.66622T>G (p.Ser22208Ala)
c.40516T>G (p.Ser13506Ala)
c.40375T>G (p.Ser13459Ala)
c.66418T>G (p.Ser22140Ala)
c.61816T>G (p.Ser20606Ala)
c.61813T>G (p.Ser20605Ala)
c.58855T>G (p.Ser19619Ala)
c.40471T>G (p.Ser13491Ala)
c.61966T>G (p.Ser20656Ala)
c.61963T>G (p.Ser20655Ala)
c.61396T>G (p.Ser20466Ala)
c.58738T>G (p.Ser19580Ala)
c.58657T>G (p.Ser19553Ala)
c.40420T>G (p.Ser13474Ala)
c.30274T>G (p.Ser10092Ala)
2g.178579672A>GCA349423564TTN,TTN-AS1c.59821T>C (p.Ser19941Pro)
c.40906T>C (p.Ser13636Pro)
c.40705T>C (p.Ser13569Pro)
c.40330T>C (p.Ser13444Pro)
c.67525T>C (p.Ser22509Pro)
c.62602T>C (p.Ser20868Pro)
n.596+8223A>G
n.2044-2900A>G
c.66622T>C (p.Ser22208Pro)
c.40516T>C (p.Ser13506Pro)
c.40375T>C (p.Ser13459Pro)
c.66418T>C (p.Ser22140Pro)
c.61816T>C (p.Ser20606Pro)
c.61813T>C (p.Ser20605Pro)
c.58855T>C (p.Ser19619Pro)
c.40471T>C (p.Ser13491Pro)
c.61966T>C (p.Ser20656Pro)
c.61963T>C (p.Ser20655Pro)
c.61396T>C (p.Ser20466Pro)
c.58738T>C (p.Ser19580Pro)
c.58657T>C (p.Ser19553Pro)
c.40420T>C (p.Ser13474Pro)
c.30274T>C (p.Ser10092Pro)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178579672A>TCA349423565TTN,TTN-AS1c.59821T>A (p.Ser19941Thr)
c.40906T>A (p.Ser13636Thr)
c.40705T>A (p.Ser13569Thr)
c.40330T>A (p.Ser13444Thr)
c.67525T>A (p.Ser22509Thr)
c.62602T>A (p.Ser20868Thr)
n.596+8223A>T
n.2044-2900A>T
c.66622T>A (p.Ser22208Thr)
c.40516T>A (p.Ser13506Thr)
c.40375T>A (p.Ser13459Thr)
c.66418T>A (p.Ser22140Thr)
c.61816T>A (p.Ser20606Thr)
c.61813T>A (p.Ser20605Thr)
c.58855T>A (p.Ser19619Thr)
c.40471T>A (p.Ser13491Thr)
c.61966T>A (p.Ser20656Thr)
c.61963T>A (p.Ser20655Thr)
c.61396T>A (p.Ser20466Thr)
c.58738T>A (p.Ser19580Thr)
c.58657T>A (p.Ser19553Thr)
c.40420T>A (p.Ser13474Thr)
c.30274T>A (p.Ser10092Thr)
2g.178579673G>ACA430260399TTN,TTN-AS1c.59820C>T (p.Tyr19940=)
c.40905C>T (p.Tyr13635=)
c.40704C>T (p.Tyr13568=)
c.40329C>T (p.Tyr13443=)
c.67524C>T (p.Tyr22508=)
c.62601C>T (p.Tyr20867=)
n.596+8224G>A
n.2044-2899G>A
c.66621C>T (p.Tyr22207=)
c.40515C>T (p.Tyr13505=)
c.40374C>T (p.Tyr13458=)
c.66417C>T (p.Tyr22139=)
c.61815C>T (p.Tyr20605=)
c.61812C>T (p.Tyr20604=)
c.58854C>T (p.Tyr19618=)
c.40470C>T (p.Tyr13490=)
c.61965C>T (p.Tyr20655=)
c.61962C>T (p.Tyr20654=)
c.61395C>T (p.Tyr20465=)
c.58737C>T (p.Tyr19579=)
c.58656C>T (p.Tyr19552=)
c.40419C>T (p.Tyr13473=)
c.30273C>T (p.Tyr10091=)
 ClinVar dbSNP gnomAD v4
2g.178579673G>CCA349423566TTN,TTN-AS1c.59820C>G (p.Tyr19940Ter)
c.40905C>G (p.Tyr13635Ter)
c.40704C>G (p.Tyr13568Ter)
c.40329C>G (p.Tyr13443Ter)
c.67524C>G (p.Tyr22508Ter)
c.62601C>G (p.Tyr20867Ter)
n.596+8224G>C
n.2044-2899G>C
c.66621C>G (p.Tyr22207Ter)
c.40515C>G (p.Tyr13505Ter)
c.40374C>G (p.Tyr13458Ter)
c.66417C>G (p.Tyr22139Ter)
c.61815C>G (p.Tyr20605Ter)
c.61812C>G (p.Tyr20604Ter)
c.58854C>G (p.Tyr19618Ter)
c.40470C>G (p.Tyr13490Ter)
c.61965C>G (p.Tyr20655Ter)
c.61962C>G (p.Tyr20654Ter)
c.61395C>G (p.Tyr20465Ter)
c.58737C>G (p.Tyr19579Ter)
c.58656C>G (p.Tyr19552Ter)
c.40419C>G (p.Tyr13473Ter)
c.30273C>G (p.Tyr10091Ter)
2g.178579673G>TCA349423567TTN,TTN-AS1c.59820C>A (p.Tyr19940Ter)
c.40905C>A (p.Tyr13635Ter)
c.40704C>A (p.Tyr13568Ter)
c.40329C>A (p.Tyr13443Ter)
c.67524C>A (p.Tyr22508Ter)
c.62601C>A (p.Tyr20867Ter)
n.596+8224G>T
n.2044-2899G>T
c.66621C>A (p.Tyr22207Ter)
c.40515C>A (p.Tyr13505Ter)
c.40374C>A (p.Tyr13458Ter)
c.66417C>A (p.Tyr22139Ter)
c.61815C>A (p.Tyr20605Ter)
c.61812C>A (p.Tyr20604Ter)
c.58854C>A (p.Tyr19618Ter)
c.40470C>A (p.Tyr13490Ter)
c.61965C>A (p.Tyr20655Ter)
c.61962C>A (p.Tyr20654Ter)
c.61395C>A (p.Tyr20465Ter)
c.58737C>A (p.Tyr19579Ter)
c.58656C>A (p.Tyr19552Ter)
c.40419C>A (p.Tyr13473Ter)
c.30273C>A (p.Tyr10091Ter)
2g.178579674T>ACA349423570TTN,TTN-AS1c.59819A>T (p.Tyr19940Phe)
c.40904A>T (p.Tyr13635Phe)
c.40703A>T (p.Tyr13568Phe)
c.40328A>T (p.Tyr13443Phe)
c.67523A>T (p.Tyr22508Phe)
c.62600A>T (p.Tyr20867Phe)
n.596+8225T>A
n.2044-2898T>A
c.66620A>T (p.Tyr22207Phe)
c.40514A>T (p.Tyr13505Phe)
c.40373A>T (p.Tyr13458Phe)
c.66416A>T (p.Tyr22139Phe)
c.61814A>T (p.Tyr20605Phe)
c.61811A>T (p.Tyr20604Phe)
c.58853A>T (p.Tyr19618Phe)
c.40469A>T (p.Tyr13490Phe)
c.61964A>T (p.Tyr20655Phe)
c.61961A>T (p.Tyr20654Phe)
c.61394A>T (p.Tyr20465Phe)
c.58736A>T (p.Tyr19579Phe)
c.58655A>T (p.Tyr19552Phe)
c.40418A>T (p.Tyr13473Phe)
c.30272A>T (p.Tyr10091Phe)
 gnomAD v4
2g.178579674T>CCA349423568TTN,TTN-AS1c.59819A>G (p.Tyr19940Cys)
c.40904A>G (p.Tyr13635Cys)
c.40703A>G (p.Tyr13568Cys)
c.40328A>G (p.Tyr13443Cys)
c.67523A>G (p.Tyr22508Cys)
c.62600A>G (p.Tyr20867Cys)
n.596+8225T>C
n.2044-2898T>C
c.66620A>G (p.Tyr22207Cys)
c.40514A>G (p.Tyr13505Cys)
c.40373A>G (p.Tyr13458Cys)
c.66416A>G (p.Tyr22139Cys)
c.61814A>G (p.Tyr20605Cys)
c.61811A>G (p.Tyr20604Cys)
c.58853A>G (p.Tyr19618Cys)
c.40469A>G (p.Tyr13490Cys)
c.61964A>G (p.Tyr20655Cys)
c.61961A>G (p.Tyr20654Cys)
c.61394A>G (p.Tyr20465Cys)
c.58736A>G (p.Tyr19579Cys)
c.58655A>G (p.Tyr19552Cys)
c.40418A>G (p.Tyr13473Cys)
c.30272A>G (p.Tyr10091Cys)
2g.178579674T>GCA349423569TTN,TTN-AS1c.59819A>C (p.Tyr19940Ser)
c.40904A>C (p.Tyr13635Ser)
c.40703A>C (p.Tyr13568Ser)
c.40328A>C (p.Tyr13443Ser)
c.67523A>C (p.Tyr22508Ser)
c.62600A>C (p.Tyr20867Ser)
n.596+8225T>G
n.2044-2898T>G
c.66620A>C (p.Tyr22207Ser)
c.40514A>C (p.Tyr13505Ser)
c.40373A>C (p.Tyr13458Ser)
c.66416A>C (p.Tyr22139Ser)
c.61814A>C (p.Tyr20605Ser)
c.61811A>C (p.Tyr20604Ser)
c.58853A>C (p.Tyr19618Ser)
c.40469A>C (p.Tyr13490Ser)
c.61964A>C (p.Tyr20655Ser)
c.61961A>C (p.Tyr20654Ser)
c.61394A>C (p.Tyr20465Ser)
c.58736A>C (p.Tyr19579Ser)
c.58655A>C (p.Tyr19552Ser)
c.40418A>C (p.Tyr13473Ser)
c.30272A>C (p.Tyr10091Ser)
2g.178579675A=CA1310534722TTN,TTN-AS1c.59818T= (p.Tyr19940=)
c.40903T= (p.Tyr13635=)
c.40702T= (p.Tyr13568=)
c.40327T= (p.Tyr13443=)
c.67522T= (p.Tyr22508=)
c.62599T= (p.Tyr20867=)
n.596+8226A=
n.2044-2897A=
c.66619T= (p.Tyr22207=)
c.40513T= (p.Tyr13505=)
c.40372T= (p.Tyr13458=)
c.66415T= (p.Tyr22139=)
c.61813T= (p.Tyr20605=)
c.61810T= (p.Tyr20604=)
c.58852T= (p.Tyr19618=)
c.40468T= (p.Tyr13490=)
c.61963T= (p.Tyr20655=)
c.61960T= (p.Tyr20654=)
c.61393T= (p.Tyr20465=)
c.58735T= (p.Tyr19579=)
c.58654T= (p.Tyr19552=)
c.40417T= (p.Tyr13473=)
c.30271T= (p.Tyr10091=)
2g.178579675A>CCA1991295TTN,TTN-AS1c.59818T>G (p.Tyr19940Asp)
c.40903T>G (p.Tyr13635Asp)
c.40702T>G (p.Tyr13568Asp)
c.40327T>G (p.Tyr13443Asp)
c.67522T>G (p.Tyr22508Asp)
c.62599T>G (p.Tyr20867Asp)
n.596+8226A>C
n.2044-2897A>C
c.66619T>G (p.Tyr22207Asp)
c.40513T>G (p.Tyr13505Asp)
c.40372T>G (p.Tyr13458Asp)
c.66415T>G (p.Tyr22139Asp)
c.61813T>G (p.Tyr20605Asp)
c.61810T>G (p.Tyr20604Asp)
c.58852T>G (p.Tyr19618Asp)
c.40468T>G (p.Tyr13490Asp)
c.61963T>G (p.Tyr20655Asp)
c.61960T>G (p.Tyr20654Asp)
c.61393T>G (p.Tyr20465Asp)
c.58735T>G (p.Tyr19579Asp)
c.58654T>G (p.Tyr19552Asp)
c.40417T>G (p.Tyr13473Asp)
c.30271T>G (p.Tyr10091Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178579675A>GCA349423571TTN,TTN-AS1c.59818T>C (p.Tyr19940His)
c.40903T>C (p.Tyr13635His)
c.40702T>C (p.Tyr13568His)
c.40327T>C (p.Tyr13443His)
c.67522T>C (p.Tyr22508His)
c.62599T>C (p.Tyr20867His)
n.596+8226A>G
n.2044-2897A>G
c.66619T>C (p.Tyr22207His)
c.40513T>C (p.Tyr13505His)
c.40372T>C (p.Tyr13458His)
c.66415T>C (p.Tyr22139His)
c.61813T>C (p.Tyr20605His)
c.61810T>C (p.Tyr20604His)
c.58852T>C (p.Tyr19618His)
c.40468T>C (p.Tyr13490His)
c.61963T>C (p.Tyr20655His)
c.61960T>C (p.Tyr20654His)
c.61393T>C (p.Tyr20465His)
c.58735T>C (p.Tyr19579His)
c.58654T>C (p.Tyr19552His)
c.40417T>C (p.Tyr13473His)
c.30271T>C (p.Tyr10091His)
 ClinVar dbSNP
2g.178579675A>TCA1991296TTN,TTN-AS1c.59818T>A (p.Tyr19940Asn)
c.40903T>A (p.Tyr13635Asn)
c.40702T>A (p.Tyr13568Asn)
c.40327T>A (p.Tyr13443Asn)
c.67522T>A (p.Tyr22508Asn)
c.62599T>A (p.Tyr20867Asn)
n.596+8226A>T
n.2044-2897A>T
c.66619T>A (p.Tyr22207Asn)
c.40513T>A (p.Tyr13505Asn)
c.40372T>A (p.Tyr13458Asn)
c.66415T>A (p.Tyr22139Asn)
c.61813T>A (p.Tyr20605Asn)
c.61810T>A (p.Tyr20604Asn)
c.58852T>A (p.Tyr19618Asn)
c.40468T>A (p.Tyr13490Asn)
c.61963T>A (p.Tyr20655Asn)
c.61960T>A (p.Tyr20654Asn)
c.61393T>A (p.Tyr20465Asn)
c.58735T>A (p.Tyr19579Asn)
c.58654T>A (p.Tyr19552Asn)
c.40417T>A (p.Tyr13473Asn)
c.30271T>A (p.Tyr10091Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178579676C>ACA349423572TTN,TTN-AS1c.59817G>T (p.Gln19939His)
c.40902G>T (p.Gln13634His)
c.40701G>T (p.Gln13567His)
c.40326G>T (p.Gln13442His)
c.67521G>T (p.Gln22507His)
c.62598G>T (p.Gln20866His)
n.596+8227C>A
n.2044-2896C>A
c.66618G>T (p.Gln22206His)
c.40512G>T (p.Gln13504His)
c.40371G>T (p.Gln13457His)
c.66414G>T (p.Gln22138His)
c.61812G>T (p.Gln20604His)
c.61809G>T (p.Gln20603His)
c.58851G>T (p.Gln19617His)
c.40467G>T (p.Gln13489His)
c.61962G>T (p.Gln20654His)
c.61959G>T (p.Gln20653His)
c.61392G>T (p.Gln20464His)
c.58734G>T (p.Gln19578His)
c.58653G>T (p.Gln19551His)
c.40416G>T (p.Gln13472His)
c.30270G>T (p.Gln10090His)
2g.178579676C>GCA349423573TTN,TTN-AS1c.59817G>C (p.Gln19939His)
c.40902G>C (p.Gln13634His)
c.40701G>C (p.Gln13567His)
c.40326G>C (p.Gln13442His)
c.67521G>C (p.Gln22507His)
c.62598G>C (p.Gln20866His)
n.596+8227C>G
n.2044-2896C>G
c.66618G>C (p.Gln22206His)
c.40512G>C (p.Gln13504His)
c.40371G>C (p.Gln13457His)
c.66414G>C (p.Gln22138His)
c.61812G>C (p.Gln20604His)
c.61809G>C (p.Gln20603His)
c.58851G>C (p.Gln19617His)
c.40467G>C (p.Gln13489His)
c.61962G>C (p.Gln20654His)
c.61959G>C (p.Gln20653His)
c.61392G>C (p.Gln20464His)
c.58734G>C (p.Gln19578His)
c.58653G>C (p.Gln19551His)
c.40416G>C (p.Gln13472His)
c.30270G>C (p.Gln10090His)
 gnomAD v4
2g.178579676C>TCA430260413TTN,TTN-AS1c.59817G>A (p.Gln19939=)
c.40902G>A (p.Gln13634=)
c.40701G>A (p.Gln13567=)
c.40326G>A (p.Gln13442=)
c.67521G>A (p.Gln22507=)
c.62598G>A (p.Gln20866=)
n.596+8227C>T
n.2044-2896C>T
c.66618G>A (p.Gln22206=)
c.40512G>A (p.Gln13504=)
c.40371G>A (p.Gln13457=)
c.66414G>A (p.Gln22138=)
c.61812G>A (p.Gln20604=)
c.61809G>A (p.Gln20603=)
c.58851G>A (p.Gln19617=)
c.40467G>A (p.Gln13489=)
c.61962G>A (p.Gln20654=)
c.61959G>A (p.Gln20653=)
c.61392G>A (p.Gln20464=)
c.58734G>A (p.Gln19578=)
c.58653G>A (p.Gln19551=)
c.40416G>A (p.Gln13472=)
c.30270G>A (p.Gln10090=)
2g.178579677T>ACA349423574TTN,TTN-AS1c.59816A>T (p.Gln19939Leu)
c.40901A>T (p.Gln13634Leu)
c.40700A>T (p.Gln13567Leu)
c.40325A>T (p.Gln13442Leu)
c.67520A>T (p.Gln22507Leu)
c.62597A>T (p.Gln20866Leu)
n.596+8228T>A
n.2044-2895T>A
c.66617A>T (p.Gln22206Leu)
c.40511A>T (p.Gln13504Leu)
c.40370A>T (p.Gln13457Leu)
c.66413A>T (p.Gln22138Leu)
c.61811A>T (p.Gln20604Leu)
c.61808A>T (p.Gln20603Leu)
c.58850A>T (p.Gln19617Leu)
c.40466A>T (p.Gln13489Leu)
c.61961A>T (p.Gln20654Leu)
c.61958A>T (p.Gln20653Leu)
c.61391A>T (p.Gln20464Leu)
c.58733A>T (p.Gln19578Leu)
c.58652A>T (p.Gln19551Leu)
c.40415A>T (p.Gln13472Leu)
c.30269A>T (p.Gln10090Leu)
2g.178579677T>CCA349423575TTN,TTN-AS1c.59816A>G (p.Gln19939Arg)
c.40901A>G (p.Gln13634Arg)
c.40700A>G (p.Gln13567Arg)
c.40325A>G (p.Gln13442Arg)
c.67520A>G (p.Gln22507Arg)
c.62597A>G (p.Gln20866Arg)
n.596+8228T>C
n.2044-2895T>C
c.66617A>G (p.Gln22206Arg)
c.40511A>G (p.Gln13504Arg)
c.40370A>G (p.Gln13457Arg)
c.66413A>G (p.Gln22138Arg)
c.61811A>G (p.Gln20604Arg)
c.61808A>G (p.Gln20603Arg)
c.58850A>G (p.Gln19617Arg)
c.40466A>G (p.Gln13489Arg)
c.61961A>G (p.Gln20654Arg)
c.61958A>G (p.Gln20653Arg)
c.61391A>G (p.Gln20464Arg)
c.58733A>G (p.Gln19578Arg)
c.58652A>G (p.Gln19551Arg)
c.40415A>G (p.Gln13472Arg)
c.30269A>G (p.Gln10090Arg)

Number of alleles fetched