Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178557800C>ACA349535610TTN,TTN-AS1c.79850G>T (p.Trp26617Leu)
c.60935G>T (p.Trp20312Leu)
c.60734G>T (p.Trp20245Leu)
c.60359G>T (p.Trp20120Leu)
c.87554G>T (p.Trp29185Leu)
c.82631G>T (p.Trp27544Leu)
n.447-13500C>A
n.2043+15439C>A
c.86651G>T (p.Trp28884Leu)
c.60545G>T (p.Trp20182Leu)
c.60404G>T (p.Trp20135Leu)
c.86447G>T (p.Trp28816Leu)
c.81845G>T (p.Trp27282Leu)
c.81842G>T (p.Trp27281Leu)
c.78884G>T (p.Trp26295Leu)
c.60500G>T (p.Trp20167Leu)
c.81995G>T (p.Trp27332Leu)
c.81992G>T (p.Trp27331Leu)
c.81425G>T (p.Trp27142Leu)
c.78767G>T (p.Trp26256Leu)
c.78686G>T (p.Trp26229Leu)
c.60449G>T (p.Trp20150Leu)
c.50303G>T (p.Trp16768Leu)
2g.178557800C=CA1310525930TTN,TTN-AS1c.79850G= (p.Trp26617=)
c.60935G= (p.Trp20312=)
c.60734G= (p.Trp20245=)
c.60359G= (p.Trp20120=)
c.87554G= (p.Trp29185=)
c.82631G= (p.Trp27544=)
n.447-13500C=
n.2043+15439C=
c.86651G= (p.Trp28884=)
c.60545G= (p.Trp20182=)
c.60404G= (p.Trp20135=)
c.86447G= (p.Trp28816=)
c.81845G= (p.Trp27282=)
c.81842G= (p.Trp27281=)
c.78884G= (p.Trp26295=)
c.60500G= (p.Trp20167=)
c.81995G= (p.Trp27332=)
c.81992G= (p.Trp27331=)
c.81425G= (p.Trp27142=)
c.78767G= (p.Trp26256=)
c.78686G= (p.Trp26229=)
c.60449G= (p.Trp20150=)
c.50303G= (p.Trp16768=)
2g.178557800C>GCA349535611TTN,TTN-AS1c.79850G>C (p.Trp26617Ser)
c.60935G>C (p.Trp20312Ser)
c.60734G>C (p.Trp20245Ser)
c.60359G>C (p.Trp20120Ser)
c.87554G>C (p.Trp29185Ser)
c.82631G>C (p.Trp27544Ser)
n.447-13500C>G
n.2043+15439C>G
c.86651G>C (p.Trp28884Ser)
c.60545G>C (p.Trp20182Ser)
c.60404G>C (p.Trp20135Ser)
c.86447G>C (p.Trp28816Ser)
c.81845G>C (p.Trp27282Ser)
c.81842G>C (p.Trp27281Ser)
c.78884G>C (p.Trp26295Ser)
c.60500G>C (p.Trp20167Ser)
c.81995G>C (p.Trp27332Ser)
c.81992G>C (p.Trp27331Ser)
c.81425G>C (p.Trp27142Ser)
c.78767G>C (p.Trp26256Ser)
c.78686G>C (p.Trp26229Ser)
c.60449G>C (p.Trp20150Ser)
c.50303G>C (p.Trp16768Ser)
2g.178557800C>TCA16042363TTN,TTN-AS1c.79850G>A (p.Trp26617Ter)
c.60935G>A (p.Trp20312Ter)
c.60734G>A (p.Trp20245Ter)
c.60359G>A (p.Trp20120Ter)
c.87554G>A (p.Trp29185Ter)
c.82631G>A (p.Trp27544Ter)
n.447-13500C>T
n.2043+15439C>T
c.86651G>A (p.Trp28884Ter)
c.60545G>A (p.Trp20182Ter)
c.60404G>A (p.Trp20135Ter)
c.86447G>A (p.Trp28816Ter)
c.81845G>A (p.Trp27282Ter)
c.81842G>A (p.Trp27281Ter)
c.78884G>A (p.Trp26295Ter)
c.60500G>A (p.Trp20167Ter)
c.81995G>A (p.Trp27332Ter)
c.81992G>A (p.Trp27331Ter)
c.81425G>A (p.Trp27142Ter)
c.78767G>A (p.Trp26256Ter)
c.78686G>A (p.Trp26229Ter)
c.60449G>A (p.Trp20150Ter)
c.50303G>A (p.Trp16768Ter)
ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
2g.178557801A=CA1310525931TTN,TTN-AS1c.79849T= (p.Trp26617=)
c.60934T= (p.Trp20312=)
c.60733T= (p.Trp20245=)
c.60358T= (p.Trp20120=)
c.87553T= (p.Trp29185=)
c.82630T= (p.Trp27544=)
n.447-13499A=
n.2043+15440A=
c.86650T= (p.Trp28884=)
c.60544T= (p.Trp20182=)
c.60403T= (p.Trp20135=)
c.86446T= (p.Trp28816=)
c.81844T= (p.Trp27282=)
c.81841T= (p.Trp27281=)
c.78883T= (p.Trp26295=)
c.60499T= (p.Trp20167=)
c.81994T= (p.Trp27332=)
c.81991T= (p.Trp27331=)
c.81424T= (p.Trp27142=)
c.78766T= (p.Trp26256=)
c.78685T= (p.Trp26229=)
c.60448T= (p.Trp20150=)
c.50302T= (p.Trp16768=)
2g.178557801A>CCA349535612TTN,TTN-AS1c.79849T>G (p.Trp26617Gly)
c.60934T>G (p.Trp20312Gly)
c.60733T>G (p.Trp20245Gly)
c.60358T>G (p.Trp20120Gly)
c.87553T>G (p.Trp29185Gly)
c.82630T>G (p.Trp27544Gly)
n.447-13499A>C
n.2043+15440A>C
c.86650T>G (p.Trp28884Gly)
c.60544T>G (p.Trp20182Gly)
c.60403T>G (p.Trp20135Gly)
c.86446T>G (p.Trp28816Gly)
c.81844T>G (p.Trp27282Gly)
c.81841T>G (p.Trp27281Gly)
c.78883T>G (p.Trp26295Gly)
c.60499T>G (p.Trp20167Gly)
c.81994T>G (p.Trp27332Gly)
c.81991T>G (p.Trp27331Gly)
c.81424T>G (p.Trp27142Gly)
c.78766T>G (p.Trp26256Gly)
c.78685T>G (p.Trp26229Gly)
c.60448T>G (p.Trp20150Gly)
c.50302T>G (p.Trp16768Gly)
gnomAD v4
2g.178557801A>GCA1988304TTN,TTN-AS1c.79849T>C (p.Trp26617Arg)
c.60934T>C (p.Trp20312Arg)
c.60733T>C (p.Trp20245Arg)
c.60358T>C (p.Trp20120Arg)
c.87553T>C (p.Trp29185Arg)
c.82630T>C (p.Trp27544Arg)
n.447-13499A>G
n.2043+15440A>G
c.86650T>C (p.Trp28884Arg)
c.60544T>C (p.Trp20182Arg)
c.60403T>C (p.Trp20135Arg)
c.86446T>C (p.Trp28816Arg)
c.81844T>C (p.Trp27282Arg)
c.81841T>C (p.Trp27281Arg)
c.78883T>C (p.Trp26295Arg)
c.60499T>C (p.Trp20167Arg)
c.81994T>C (p.Trp27332Arg)
c.81991T>C (p.Trp27331Arg)
c.81424T>C (p.Trp27142Arg)
c.78766T>C (p.Trp26256Arg)
c.78685T>C (p.Trp26229Arg)
c.60448T>C (p.Trp20150Arg)
c.50302T>C (p.Trp16768Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.178557801A>TCA349535614TTN,TTN-AS1c.79849T>A (p.Trp26617Arg)
c.60934T>A (p.Trp20312Arg)
c.60733T>A (p.Trp20245Arg)
c.60358T>A (p.Trp20120Arg)
c.87553T>A (p.Trp29185Arg)
c.82630T>A (p.Trp27544Arg)
n.447-13499A>T
n.2043+15440A>T
c.86650T>A (p.Trp28884Arg)
c.60544T>A (p.Trp20182Arg)
c.60403T>A (p.Trp20135Arg)
c.86446T>A (p.Trp28816Arg)
c.81844T>A (p.Trp27282Arg)
c.81841T>A (p.Trp27281Arg)
c.78883T>A (p.Trp26295Arg)
c.60499T>A (p.Trp20167Arg)
c.81994T>A (p.Trp27332Arg)
c.81991T>A (p.Trp27331Arg)
c.81424T>A (p.Trp27142Arg)
c.78766T>A (p.Trp26256Arg)
c.78685T>A (p.Trp26229Arg)
c.60448T>A (p.Trp20150Arg)
c.50302T>A (p.Trp16768Arg)
2g.178557801_178557802insGGCA2553087767TTN,TTN-AS1c.79848_79849insCC (p.Trp26617ProfsTer13)
c.60933_60934insCC (p.Trp20312ProfsTer13)
c.60732_60733insCC (p.Trp20245ProfsTer13)
c.60357_60358insCC (p.Trp20120ProfsTer13)
c.87552_87553insCC (p.Trp29185ProfsTer13)
c.82629_82630insCC (p.Trp27544ProfsTer13)
n.447-13499_447-13498insGG
n.2043+15440_2043+15441insGG
c.86649_86650insCC (p.Trp28884ProfsTer13)
c.60543_60544insCC (p.Trp20182ProfsTer13)
c.60402_60403insCC (p.Trp20135ProfsTer13)
c.86445_86446insCC (p.Trp28816ProfsTer13)
c.81843_81844insCC (p.Trp27282ProfsTer13)
c.81840_81841insCC (p.Trp27281ProfsTer13)
c.78882_78883insCC (p.Trp26295ProfsTer13)
c.60498_60499insCC (p.Trp20167ProfsTer13)
c.81993_81994insCC (p.Trp27332ProfsTer13)
c.81990_81991insCC (p.Trp27331ProfsTer13)
c.81423_81424insCC (p.Trp27142ProfsTer13)
c.78765_78766insCC (p.Trp26256ProfsTer13)
c.78684_78685insCC (p.Trp26229ProfsTer13)
c.60447_60448insCC (p.Trp20150ProfsTer13)
c.50301_50302insCC (p.Trp16768ProfsTer13)
2g.178557802C>ACA430247680TTN,TTN-AS1c.79848G>T (p.Val26616=)
c.60933G>T (p.Val20311=)
c.60732G>T (p.Val20244=)
c.60357G>T (p.Val20119=)
c.87552G>T (p.Val29184=)
c.82629G>T (p.Val27543=)
n.447-13498C>A
n.2043+15441C>A
c.86649G>T (p.Val28883=)
c.60543G>T (p.Val20181=)
c.60402G>T (p.Val20134=)
c.86445G>T (p.Val28815=)
c.81843G>T (p.Val27281=)
c.81840G>T (p.Val27280=)
c.78882G>T (p.Val26294=)
c.60498G>T (p.Val20166=)
c.81993G>T (p.Val27331=)
c.81990G>T (p.Val27330=)
c.81423G>T (p.Val27141=)
c.78765G>T (p.Val26255=)
c.78684G>T (p.Val26228=)
c.60447G>T (p.Val20149=)
c.50301G>T (p.Val16767=)
2g.178557802C>GCA430247681TTN,TTN-AS1c.79848G>C (p.Val26616=)
c.60933G>C (p.Val20311=)
c.60732G>C (p.Val20244=)
c.60357G>C (p.Val20119=)
c.87552G>C (p.Val29184=)
c.82629G>C (p.Val27543=)
n.447-13498C>G
n.2043+15441C>G
c.86649G>C (p.Val28883=)
c.60543G>C (p.Val20181=)
c.60402G>C (p.Val20134=)
c.86445G>C (p.Val28815=)
c.81843G>C (p.Val27281=)
c.81840G>C (p.Val27280=)
c.78882G>C (p.Val26294=)
c.60498G>C (p.Val20166=)
c.81993G>C (p.Val27331=)
c.81990G>C (p.Val27330=)
c.81423G>C (p.Val27141=)
c.78765G>C (p.Val26255=)
c.78684G>C (p.Val26228=)
c.60447G>C (p.Val20149=)
c.50301G>C (p.Val16767=)
2g.178557802C>TCA430247682TTN,TTN-AS1c.79848G>A (p.Val26616=)
c.60933G>A (p.Val20311=)
c.60732G>A (p.Val20244=)
c.60357G>A (p.Val20119=)
c.87552G>A (p.Val29184=)
c.82629G>A (p.Val27543=)
n.447-13498C>T
n.2043+15441C>T
c.86649G>A (p.Val28883=)
c.60543G>A (p.Val20181=)
c.60402G>A (p.Val20134=)
c.86445G>A (p.Val28815=)
c.81843G>A (p.Val27281=)
c.81840G>A (p.Val27280=)
c.78882G>A (p.Val26294=)
c.60498G>A (p.Val20166=)
c.81993G>A (p.Val27331=)
c.81990G>A (p.Val27330=)
c.81423G>A (p.Val27141=)
c.78765G>A (p.Val26255=)
c.78684G>A (p.Val26228=)
c.60447G>A (p.Val20149=)
c.50301G>A (p.Val16767=)
gnomAD v4
2g.178557803A>CCA349535615TTN,TTN-AS1c.79847T>G (p.Val26616Gly)
c.60932T>G (p.Val20311Gly)
c.60731T>G (p.Val20244Gly)
c.60356T>G (p.Val20119Gly)
c.87551T>G (p.Val29184Gly)
c.82628T>G (p.Val27543Gly)
n.447-13497A>C
n.2043+15442A>C
c.86648T>G (p.Val28883Gly)
c.60542T>G (p.Val20181Gly)
c.60401T>G (p.Val20134Gly)
c.86444T>G (p.Val28815Gly)
c.81842T>G (p.Val27281Gly)
c.81839T>G (p.Val27280Gly)
c.78881T>G (p.Val26294Gly)
c.60497T>G (p.Val20166Gly)
c.81992T>G (p.Val27331Gly)
c.81989T>G (p.Val27330Gly)
c.81422T>G (p.Val27141Gly)
c.78764T>G (p.Val26255Gly)
c.78683T>G (p.Val26228Gly)
c.60446T>G (p.Val20149Gly)
c.50300T>G (p.Val16767Gly)
gnomAD v4
2g.178557803A>GCA349535616TTN,TTN-AS1c.79847T>C (p.Val26616Ala)
c.60932T>C (p.Val20311Ala)
c.60731T>C (p.Val20244Ala)
c.60356T>C (p.Val20119Ala)
c.87551T>C (p.Val29184Ala)
c.82628T>C (p.Val27543Ala)
n.447-13497A>G
n.2043+15442A>G
c.86648T>C (p.Val28883Ala)
c.60542T>C (p.Val20181Ala)
c.60401T>C (p.Val20134Ala)
c.86444T>C (p.Val28815Ala)
c.81842T>C (p.Val27281Ala)
c.81839T>C (p.Val27280Ala)
c.78881T>C (p.Val26294Ala)
c.60497T>C (p.Val20166Ala)
c.81992T>C (p.Val27331Ala)
c.81989T>C (p.Val27330Ala)
c.81422T>C (p.Val27141Ala)
c.78764T>C (p.Val26255Ala)
c.78683T>C (p.Val26228Ala)
c.60446T>C (p.Val20149Ala)
c.50300T>C (p.Val16767Ala)
gnomAD v4
2g.178557803A>TCA349535619TTN,TTN-AS1c.79847T>A (p.Val26616Glu)
c.60932T>A (p.Val20311Glu)
c.60731T>A (p.Val20244Glu)
c.60356T>A (p.Val20119Glu)
c.87551T>A (p.Val29184Glu)
c.82628T>A (p.Val27543Glu)
n.447-13497A>T
n.2043+15442A>T
c.86648T>A (p.Val28883Glu)
c.60542T>A (p.Val20181Glu)
c.60401T>A (p.Val20134Glu)
c.86444T>A (p.Val28815Glu)
c.81842T>A (p.Val27281Glu)
c.81839T>A (p.Val27280Glu)
c.78881T>A (p.Val26294Glu)
c.60497T>A (p.Val20166Glu)
c.81992T>A (p.Val27331Glu)
c.81989T>A (p.Val27330Glu)
c.81422T>A (p.Val27141Glu)
c.78764T>A (p.Val26255Glu)
c.78683T>A (p.Val26228Glu)
c.60446T>A (p.Val20149Glu)
c.50300T>A (p.Val16767Glu)
2g.178557804C>ACA349535629TTN,TTN-AS1c.79846G>T (p.Val26616Leu)
c.60931G>T (p.Val20311Leu)
c.60730G>T (p.Val20244Leu)
c.60355G>T (p.Val20119Leu)
c.87550G>T (p.Val29184Leu)
c.82627G>T (p.Val27543Leu)
n.447-13496C>A
n.2043+15443C>A
c.86647G>T (p.Val28883Leu)
c.60541G>T (p.Val20181Leu)
c.60400G>T (p.Val20134Leu)
c.86443G>T (p.Val28815Leu)
c.81841G>T (p.Val27281Leu)
c.81838G>T (p.Val27280Leu)
c.78880G>T (p.Val26294Leu)
c.60496G>T (p.Val20166Leu)
c.81991G>T (p.Val27331Leu)
c.81988G>T (p.Val27330Leu)
c.81421G>T (p.Val27141Leu)
c.78763G>T (p.Val26255Leu)
c.78682G>T (p.Val26228Leu)
c.60445G>T (p.Val20149Leu)
c.50299G>T (p.Val16767Leu)
gnomAD v4
2g.178557804C=CA1310525932TTN,TTN-AS1c.79846G= (p.Val26616=)
c.60931G= (p.Val20311=)
c.60730G= (p.Val20244=)
c.60355G= (p.Val20119=)
c.87550G= (p.Val29184=)
c.82627G= (p.Val27543=)
n.447-13496C=
n.2043+15443C=
c.86647G= (p.Val28883=)
c.60541G= (p.Val20181=)
c.60400G= (p.Val20134=)
c.86443G= (p.Val28815=)
c.81841G= (p.Val27281=)
c.81838G= (p.Val27280=)
c.78880G= (p.Val26294=)
c.60496G= (p.Val20166=)
c.81991G= (p.Val27331=)
c.81988G= (p.Val27330=)
c.81421G= (p.Val27141=)
c.78763G= (p.Val26255=)
c.78682G= (p.Val26228=)
c.60445G= (p.Val20149=)
c.50299G= (p.Val16767=)
2g.178557804C>GCA349535623TTN,TTN-AS1c.79846G>C (p.Val26616Leu)
c.60931G>C (p.Val20311Leu)
c.60730G>C (p.Val20244Leu)
c.60355G>C (p.Val20119Leu)
c.87550G>C (p.Val29184Leu)
c.82627G>C (p.Val27543Leu)
n.447-13496C>G
n.2043+15443C>G
c.86647G>C (p.Val28883Leu)
c.60541G>C (p.Val20181Leu)
c.60400G>C (p.Val20134Leu)
c.86443G>C (p.Val28815Leu)
c.81841G>C (p.Val27281Leu)
c.81838G>C (p.Val27280Leu)
c.78880G>C (p.Val26294Leu)
c.60496G>C (p.Val20166Leu)
c.81991G>C (p.Val27331Leu)
c.81988G>C (p.Val27330Leu)
c.81421G>C (p.Val27141Leu)
c.78763G>C (p.Val26255Leu)
c.78682G>C (p.Val26228Leu)
c.60445G>C (p.Val20149Leu)
c.50299G>C (p.Val16767Leu)
2g.178557804C>TCA60981703TTN,TTN-AS1c.79846G>A (p.Val26616Met)
c.60931G>A (p.Val20311Met)
c.60730G>A (p.Val20244Met)
c.60355G>A (p.Val20119Met)
c.87550G>A (p.Val29184Met)
c.82627G>A (p.Val27543Met)
n.447-13496C>T
n.2043+15443C>T
c.86647G>A (p.Val28883Met)
c.60541G>A (p.Val20181Met)
c.60400G>A (p.Val20134Met)
c.86443G>A (p.Val28815Met)
c.81841G>A (p.Val27281Met)
c.81838G>A (p.Val27280Met)
c.78880G>A (p.Val26294Met)
c.60496G>A (p.Val20166Met)
c.81991G>A (p.Val27331Met)
c.81988G>A (p.Val27330Met)
c.81421G>A (p.Val27141Met)
c.78763G>A (p.Val26255Met)
c.78682G>A (p.Val26228Met)
c.60445G>A (p.Val20149Met)
c.50299G>A (p.Val16767Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178557804_178557805delCA2502201646TTN,TTN-AS1c.79845_79846del (p.Trp26617AspfsTer2)
c.60930_60931del (p.Trp20312AspfsTer2)
c.60729_60730del (p.Trp20245AspfsTer2)
c.60354_60355del (p.Trp20120AspfsTer2)
c.87549_87550del (p.Trp29185AspfsTer2)
c.82626_82627del (p.Trp27544AspfsTer2)
n.447-13496_447-13495del
n.2043+15443_2043+15444del
c.86646_86647del (p.Trp28884AspfsTer2)
c.60540_60541del (p.Trp20182AspfsTer2)
c.60399_60400del (p.Trp20135AspfsTer2)
c.86442_86443del (p.Trp28816AspfsTer2)
c.81840_81841del (p.Trp27282AspfsTer2)
c.81837_81838del (p.Trp27281AspfsTer2)
c.78879_78880del (p.Trp26295AspfsTer2)
c.60495_60496del (p.Trp20167AspfsTer2)
c.81990_81991del (p.Trp27332AspfsTer2)
c.81987_81988del (p.Trp27331AspfsTer2)
c.81420_81421del (p.Trp27142AspfsTer2)
c.78762_78763del (p.Trp26256AspfsTer2)
c.78681_78682del (p.Trp26229AspfsTer2)
c.60444_60445del (p.Trp20150AspfsTer2)
c.50298_50299del (p.Trp16768AspfsTer2)
2g.178557805T>ACA430247689TTN,TTN-AS1c.79845A>T (p.Ala26615=)
c.60930A>T (p.Ala20310=)
c.60729A>T (p.Ala20243=)
c.60354A>T (p.Ala20118=)
c.87549A>T (p.Ala29183=)
c.82626A>T (p.Ala27542=)
n.447-13495T>A
n.2043+15444T>A
c.86646A>T (p.Ala28882=)
c.60540A>T (p.Ala20180=)
c.60399A>T (p.Ala20133=)
c.86442A>T (p.Ala28814=)
c.81840A>T (p.Ala27280=)
c.81837A>T (p.Ala27279=)
c.78879A>T (p.Ala26293=)
c.60495A>T (p.Ala20165=)
c.81990A>T (p.Ala27330=)
c.81987A>T (p.Ala27329=)
c.81420A>T (p.Ala27140=)
c.78762A>T (p.Ala26254=)
c.78681A>T (p.Ala26227=)
c.60444A>T (p.Ala20148=)
c.50298A>T (p.Ala16766=)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178557805T>CCA430247691TTN,TTN-AS1c.79845A>G (p.Ala26615=)
c.60930A>G (p.Ala20310=)
c.60729A>G (p.Ala20243=)
c.60354A>G (p.Ala20118=)
c.87549A>G (p.Ala29183=)
c.82626A>G (p.Ala27542=)
n.447-13495T>C
n.2043+15444T>C
c.86646A>G (p.Ala28882=)
c.60540A>G (p.Ala20180=)
c.60399A>G (p.Ala20133=)
c.86442A>G (p.Ala28814=)
c.81840A>G (p.Ala27280=)
c.81837A>G (p.Ala27279=)
c.78879A>G (p.Ala26293=)
c.60495A>G (p.Ala20165=)
c.81990A>G (p.Ala27330=)
c.81987A>G (p.Ala27329=)
c.81420A>G (p.Ala27140=)
c.78762A>G (p.Ala26254=)
c.78681A>G (p.Ala26227=)
c.60444A>G (p.Ala20148=)
c.50298A>G (p.Ala16766=)
2g.178557805T>GCA430247692TTN,TTN-AS1c.79845A>C (p.Ala26615=)
c.60930A>C (p.Ala20310=)
c.60729A>C (p.Ala20243=)
c.60354A>C (p.Ala20118=)
c.87549A>C (p.Ala29183=)
c.82626A>C (p.Ala27542=)
n.447-13495T>G
n.2043+15444T>G
c.86646A>C (p.Ala28882=)
c.60540A>C (p.Ala20180=)
c.60399A>C (p.Ala20133=)
c.86442A>C (p.Ala28814=)
c.81840A>C (p.Ala27280=)
c.81837A>C (p.Ala27279=)
c.78879A>C (p.Ala26293=)
c.60495A>C (p.Ala20165=)
c.81990A>C (p.Ala27330=)
c.81987A>C (p.Ala27329=)
c.81420A>C (p.Ala27140=)
c.78762A>C (p.Ala26254=)
c.78681A>C (p.Ala26227=)
c.60444A>C (p.Ala20148=)
c.50298A>C (p.Ala16766=)
2g.178557805T=CA1310525933TTN,TTN-AS1c.79845A= (p.Ala26615=)
c.60930A= (p.Ala20310=)
c.60729A= (p.Ala20243=)
c.60354A= (p.Ala20118=)
c.87549A= (p.Ala29183=)
c.82626A= (p.Ala27542=)
n.447-13495T=
n.2043+15444T=
c.86646A= (p.Ala28882=)
c.60540A= (p.Ala20180=)
c.60399A= (p.Ala20133=)
c.86442A= (p.Ala28814=)
c.81840A= (p.Ala27280=)
c.81837A= (p.Ala27279=)
c.78879A= (p.Ala26293=)
c.60495A= (p.Ala20165=)
c.81990A= (p.Ala27330=)
c.81987A= (p.Ala27329=)
c.81420A= (p.Ala27140=)
c.78762A= (p.Ala26254=)
c.78681A= (p.Ala26227=)
c.60444A= (p.Ala20148=)
c.50298A= (p.Ala16766=)
2g.178557806G>ACA349535632TTN,TTN-AS1c.79844C>T (p.Ala26615Val)
c.60929C>T (p.Ala20310Val)
c.60728C>T (p.Ala20243Val)
c.60353C>T (p.Ala20118Val)
c.87548C>T (p.Ala29183Val)
c.82625C>T (p.Ala27542Val)
n.447-13494G>A
n.2043+15445G>A
c.86645C>T (p.Ala28882Val)
c.60539C>T (p.Ala20180Val)
c.60398C>T (p.Ala20133Val)
c.86441C>T (p.Ala28814Val)
c.81839C>T (p.Ala27280Val)
c.81836C>T (p.Ala27279Val)
c.78878C>T (p.Ala26293Val)
c.60494C>T (p.Ala20165Val)
c.81989C>T (p.Ala27330Val)
c.81986C>T (p.Ala27329Val)
c.81419C>T (p.Ala27140Val)
c.78761C>T (p.Ala26254Val)
c.78680C>T (p.Ala26227Val)
c.60443C>T (p.Ala20148Val)
c.50297C>T (p.Ala16766Val)
gnomAD v4
2g.178557806G>CCA349535634TTN,TTN-AS1c.79844C>G (p.Ala26615Gly)
c.60929C>G (p.Ala20310Gly)
c.60728C>G (p.Ala20243Gly)
c.60353C>G (p.Ala20118Gly)
c.87548C>G (p.Ala29183Gly)
c.82625C>G (p.Ala27542Gly)
n.447-13494G>C
n.2043+15445G>C
c.86645C>G (p.Ala28882Gly)
c.60539C>G (p.Ala20180Gly)
c.60398C>G (p.Ala20133Gly)
c.86441C>G (p.Ala28814Gly)
c.81839C>G (p.Ala27280Gly)
c.81836C>G (p.Ala27279Gly)
c.78878C>G (p.Ala26293Gly)
c.60494C>G (p.Ala20165Gly)
c.81989C>G (p.Ala27330Gly)
c.81986C>G (p.Ala27329Gly)
c.81419C>G (p.Ala27140Gly)
c.78761C>G (p.Ala26254Gly)
c.78680C>G (p.Ala26227Gly)
c.60443C>G (p.Ala20148Gly)
c.50297C>G (p.Ala16766Gly)
2g.178557806G=CA1310525934TTN,TTN-AS1c.79844C= (p.Ala26615=)
c.60929C= (p.Ala20310=)
c.60728C= (p.Ala20243=)
c.60353C= (p.Ala20118=)
c.87548C= (p.Ala29183=)
c.82625C= (p.Ala27542=)
n.447-13494G=
n.2043+15445G=
c.86645C= (p.Ala28882=)
c.60539C= (p.Ala20180=)
c.60398C= (p.Ala20133=)
c.86441C= (p.Ala28814=)
c.81839C= (p.Ala27280=)
c.81836C= (p.Ala27279=)
c.78878C= (p.Ala26293=)
c.60494C= (p.Ala20165=)
c.81989C= (p.Ala27330=)
c.81986C= (p.Ala27329=)
c.81419C= (p.Ala27140=)
c.78761C= (p.Ala26254=)
c.78680C= (p.Ala26227=)
c.60443C= (p.Ala20148=)
c.50297C= (p.Ala16766=)
2g.178557806G>TCA1988305TTN,TTN-AS1c.79844C>A (p.Ala26615Glu)
c.60929C>A (p.Ala20310Glu)
c.60728C>A (p.Ala20243Glu)
c.60353C>A (p.Ala20118Glu)
c.87548C>A (p.Ala29183Glu)
c.82625C>A (p.Ala27542Glu)
n.447-13494G>T
n.2043+15445G>T
c.86645C>A (p.Ala28882Glu)
c.60539C>A (p.Ala20180Glu)
c.60398C>A (p.Ala20133Glu)
c.86441C>A (p.Ala28814Glu)
c.81839C>A (p.Ala27280Glu)
c.81836C>A (p.Ala27279Glu)
c.78878C>A (p.Ala26293Glu)
c.60494C>A (p.Ala20165Glu)
c.81989C>A (p.Ala27330Glu)
c.81986C>A (p.Ala27329Glu)
c.81419C>A (p.Ala27140Glu)
c.78761C>A (p.Ala26254Glu)
c.78680C>A (p.Ala26227Glu)
c.60443C>A (p.Ala20148Glu)
c.50297C>A (p.Ala16766Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178557807C>ACA349535635TTN,TTN-AS1c.79843G>T (p.Ala26615Ser)
c.60928G>T (p.Ala20310Ser)
c.60727G>T (p.Ala20243Ser)
c.60352G>T (p.Ala20118Ser)
c.87547G>T (p.Ala29183Ser)
c.82624G>T (p.Ala27542Ser)
n.447-13493C>A
n.2043+15446C>A
c.86644G>T (p.Ala28882Ser)
c.60538G>T (p.Ala20180Ser)
c.60397G>T (p.Ala20133Ser)
c.86440G>T (p.Ala28814Ser)
c.81838G>T (p.Ala27280Ser)
c.81835G>T (p.Ala27279Ser)
c.78877G>T (p.Ala26293Ser)
c.60493G>T (p.Ala20165Ser)
c.81988G>T (p.Ala27330Ser)
c.81985G>T (p.Ala27329Ser)
c.81418G>T (p.Ala27140Ser)
c.78760G>T (p.Ala26254Ser)
c.78679G>T (p.Ala26227Ser)
c.60442G>T (p.Ala20148Ser)
c.50296G>T (p.Ala16766Ser)
2g.178557807C>GCA349535636TTN,TTN-AS1c.79843G>C (p.Ala26615Pro)
c.60928G>C (p.Ala20310Pro)
c.60727G>C (p.Ala20243Pro)
c.60352G>C (p.Ala20118Pro)
c.87547G>C (p.Ala29183Pro)
c.82624G>C (p.Ala27542Pro)
n.447-13493C>G
n.2043+15446C>G
c.86644G>C (p.Ala28882Pro)
c.60538G>C (p.Ala20180Pro)
c.60397G>C (p.Ala20133Pro)
c.86440G>C (p.Ala28814Pro)
c.81838G>C (p.Ala27280Pro)
c.81835G>C (p.Ala27279Pro)
c.78877G>C (p.Ala26293Pro)
c.60493G>C (p.Ala20165Pro)
c.81988G>C (p.Ala27330Pro)
c.81985G>C (p.Ala27329Pro)
c.81418G>C (p.Ala27140Pro)
c.78760G>C (p.Ala26254Pro)
c.78679G>C (p.Ala26227Pro)
c.60442G>C (p.Ala20148Pro)
c.50296G>C (p.Ala16766Pro)
2g.178557807C>TCA349535637TTN,TTN-AS1c.79843G>A (p.Ala26615Thr)
c.60928G>A (p.Ala20310Thr)
c.60727G>A (p.Ala20243Thr)
c.60352G>A (p.Ala20118Thr)
c.87547G>A (p.Ala29183Thr)
c.82624G>A (p.Ala27542Thr)
n.447-13493C>T
n.2043+15446C>T
c.86644G>A (p.Ala28882Thr)
c.60538G>A (p.Ala20180Thr)
c.60397G>A (p.Ala20133Thr)
c.86440G>A (p.Ala28814Thr)
c.81838G>A (p.Ala27280Thr)
c.81835G>A (p.Ala27279Thr)
c.78877G>A (p.Ala26293Thr)
c.60493G>A (p.Ala20165Thr)
c.81988G>A (p.Ala27330Thr)
c.81985G>A (p.Ala27329Thr)
c.81418G>A (p.Ala27140Thr)
c.78760G>A (p.Ala26254Thr)
c.78679G>A (p.Ala26227Thr)
c.60442G>A (p.Ala20148Thr)
c.50296G>A (p.Ala16766Thr)
gnomAD v4
2g.178557808A=CA1310525935TTN,TTN-AS1c.79842T= (p.Thr26614=)
c.60927T= (p.Thr20309=)
c.60726T= (p.Thr20242=)
c.60351T= (p.Thr20117=)
c.87546T= (p.Thr29182=)
c.82623T= (p.Thr27541=)
n.447-13492A=
n.2043+15447A=
c.86643T= (p.Thr28881=)
c.60537T= (p.Thr20179=)
c.60396T= (p.Thr20132=)
c.86439T= (p.Thr28813=)
c.81837T= (p.Thr27279=)
c.81834T= (p.Thr27278=)
c.78876T= (p.Thr26292=)
c.60492T= (p.Thr20164=)
c.81987T= (p.Thr27329=)
c.81984T= (p.Thr27328=)
c.81417T= (p.Thr27139=)
c.78759T= (p.Thr26253=)
c.78678T= (p.Thr26226=)
c.60441T= (p.Thr20147=)
c.50295T= (p.Thr16765=)
2g.178557808A>CCA430247695TTN,TTN-AS1c.79842T>G (p.Thr26614=)
c.60927T>G (p.Thr20309=)
c.60726T>G (p.Thr20242=)
c.60351T>G (p.Thr20117=)
c.87546T>G (p.Thr29182=)
c.82623T>G (p.Thr27541=)
n.447-13492A>C
n.2043+15447A>C
c.86643T>G (p.Thr28881=)
c.60537T>G (p.Thr20179=)
c.60396T>G (p.Thr20132=)
c.86439T>G (p.Thr28813=)
c.81837T>G (p.Thr27279=)
c.81834T>G (p.Thr27278=)
c.78876T>G (p.Thr26292=)
c.60492T>G (p.Thr20164=)
c.81987T>G (p.Thr27329=)
c.81984T>G (p.Thr27328=)
c.81417T>G (p.Thr27139=)
c.78759T>G (p.Thr26253=)
c.78678T>G (p.Thr26226=)
c.60441T>G (p.Thr20147=)
c.50295T>G (p.Thr16765=)
dbSNP gnomAD v2 gnomAD v4
2g.178557808A>GCA430247697TTN,TTN-AS1c.79842T>C (p.Thr26614=)
c.60927T>C (p.Thr20309=)
c.60726T>C (p.Thr20242=)
c.60351T>C (p.Thr20117=)
c.87546T>C (p.Thr29182=)
c.82623T>C (p.Thr27541=)
n.447-13492A>G
n.2043+15447A>G
c.86643T>C (p.Thr28881=)
c.60537T>C (p.Thr20179=)
c.60396T>C (p.Thr20132=)
c.86439T>C (p.Thr28813=)
c.81837T>C (p.Thr27279=)
c.81834T>C (p.Thr27278=)
c.78876T>C (p.Thr26292=)
c.60492T>C (p.Thr20164=)
c.81987T>C (p.Thr27329=)
c.81984T>C (p.Thr27328=)
c.81417T>C (p.Thr27139=)
c.78759T>C (p.Thr26253=)
c.78678T>C (p.Thr26226=)
c.60441T>C (p.Thr20147=)
c.50295T>C (p.Thr16765=)
2g.178557808A>TCA430247694TTN,TTN-AS1c.79842T>A (p.Thr26614=)
c.60927T>A (p.Thr20309=)
c.60726T>A (p.Thr20242=)
c.60351T>A (p.Thr20117=)
c.87546T>A (p.Thr29182=)
c.82623T>A (p.Thr27541=)
n.447-13492A>T
n.2043+15447A>T
c.86643T>A (p.Thr28881=)
c.60537T>A (p.Thr20179=)
c.60396T>A (p.Thr20132=)
c.86439T>A (p.Thr28813=)
c.81837T>A (p.Thr27279=)
c.81834T>A (p.Thr27278=)
c.78876T>A (p.Thr26292=)
c.60492T>A (p.Thr20164=)
c.81987T>A (p.Thr27329=)
c.81984T>A (p.Thr27328=)
c.81417T>A (p.Thr27139=)
c.78759T>A (p.Thr26253=)
c.78678T>A (p.Thr26226=)
c.60441T>A (p.Thr20147=)
c.50295T>A (p.Thr16765=)
gnomAD v4
2g.178557809G>ACA349535647TTN,TTN-AS1c.79841C>T (p.Thr26614Ile)
c.60926C>T (p.Thr20309Ile)
c.60725C>T (p.Thr20242Ile)
c.60350C>T (p.Thr20117Ile)
c.87545C>T (p.Thr29182Ile)
c.82622C>T (p.Thr27541Ile)
n.447-13491G>A
n.2043+15448G>A
c.86642C>T (p.Thr28881Ile)
c.60536C>T (p.Thr20179Ile)
c.60395C>T (p.Thr20132Ile)
c.86438C>T (p.Thr28813Ile)
c.81836C>T (p.Thr27279Ile)
c.81833C>T (p.Thr27278Ile)
c.78875C>T (p.Thr26292Ile)
c.60491C>T (p.Thr20164Ile)
c.81986C>T (p.Thr27329Ile)
c.81983C>T (p.Thr27328Ile)
c.81416C>T (p.Thr27139Ile)
c.78758C>T (p.Thr26253Ile)
c.78677C>T (p.Thr26226Ile)
c.60440C>T (p.Thr20147Ile)
c.50294C>T (p.Thr16765Ile)
dbSNP gnomAD v3 gnomAD v4
2g.178557809G>CCA349535639TTN,TTN-AS1c.79841C>G (p.Thr26614Ser)
c.60926C>G (p.Thr20309Ser)
c.60725C>G (p.Thr20242Ser)
c.60350C>G (p.Thr20117Ser)
c.87545C>G (p.Thr29182Ser)
c.82622C>G (p.Thr27541Ser)
n.447-13491G>C
n.2043+15448G>C
c.86642C>G (p.Thr28881Ser)
c.60536C>G (p.Thr20179Ser)
c.60395C>G (p.Thr20132Ser)
c.86438C>G (p.Thr28813Ser)
c.81836C>G (p.Thr27279Ser)
c.81833C>G (p.Thr27278Ser)
c.78875C>G (p.Thr26292Ser)
c.60491C>G (p.Thr20164Ser)
c.81986C>G (p.Thr27329Ser)
c.81983C>G (p.Thr27328Ser)
c.81416C>G (p.Thr27139Ser)
c.78758C>G (p.Thr26253Ser)
c.78677C>G (p.Thr26226Ser)
c.60440C>G (p.Thr20147Ser)
c.50294C>G (p.Thr16765Ser)
2g.178557809G=CA1310525936TTN,TTN-AS1c.79841C= (p.Thr26614=)
c.60926C= (p.Thr20309=)
c.60725C= (p.Thr20242=)
c.60350C= (p.Thr20117=)
c.87545C= (p.Thr29182=)
c.82622C= (p.Thr27541=)
n.447-13491G=
n.2043+15448G=
c.86642C= (p.Thr28881=)
c.60536C= (p.Thr20179=)
c.60395C= (p.Thr20132=)
c.86438C= (p.Thr28813=)
c.81836C= (p.Thr27279=)
c.81833C= (p.Thr27278=)
c.78875C= (p.Thr26292=)
c.60491C= (p.Thr20164=)
c.81986C= (p.Thr27329=)
c.81983C= (p.Thr27328=)
c.81416C= (p.Thr27139=)
c.78758C= (p.Thr26253=)
c.78677C= (p.Thr26226=)
c.60440C= (p.Thr20147=)
c.50294C= (p.Thr16765=)
2g.178557809G>TCA349535645TTN,TTN-AS1c.79841C>A (p.Thr26614Asn)
c.60926C>A (p.Thr20309Asn)
c.60725C>A (p.Thr20242Asn)
c.60350C>A (p.Thr20117Asn)
c.87545C>A (p.Thr29182Asn)
c.82622C>A (p.Thr27541Asn)
n.447-13491G>T
n.2043+15448G>T
c.86642C>A (p.Thr28881Asn)
c.60536C>A (p.Thr20179Asn)
c.60395C>A (p.Thr20132Asn)
c.86438C>A (p.Thr28813Asn)
c.81836C>A (p.Thr27279Asn)
c.81833C>A (p.Thr27278Asn)
c.78875C>A (p.Thr26292Asn)
c.60491C>A (p.Thr20164Asn)
c.81986C>A (p.Thr27329Asn)
c.81983C>A (p.Thr27328Asn)
c.81416C>A (p.Thr27139Asn)
c.78758C>A (p.Thr26253Asn)
c.78677C>A (p.Thr26226Asn)
c.60440C>A (p.Thr20147Asn)
c.50294C>A (p.Thr16765Asn)
2g.178557810T>ACA349535648TTN,TTN-AS1c.79840A>T (p.Thr26614Ser)
c.60925A>T (p.Thr20309Ser)
c.60724A>T (p.Thr20242Ser)
c.60349A>T (p.Thr20117Ser)
c.87544A>T (p.Thr29182Ser)
c.82621A>T (p.Thr27541Ser)
n.447-13490T>A
n.2043+15449T>A
c.86641A>T (p.Thr28881Ser)
c.60535A>T (p.Thr20179Ser)
c.60394A>T (p.Thr20132Ser)
c.86437A>T (p.Thr28813Ser)
c.81835A>T (p.Thr27279Ser)
c.81832A>T (p.Thr27278Ser)
c.78874A>T (p.Thr26292Ser)
c.60490A>T (p.Thr20164Ser)
c.81985A>T (p.Thr27329Ser)
c.81982A>T (p.Thr27328Ser)
c.81415A>T (p.Thr27139Ser)
c.78757A>T (p.Thr26253Ser)
c.78676A>T (p.Thr26226Ser)
c.60439A>T (p.Thr20147Ser)
c.50293A>T (p.Thr16765Ser)
2g.178557810T>CCA349535652TTN,TTN-AS1c.79840A>G (p.Thr26614Ala)
c.60925A>G (p.Thr20309Ala)
c.60724A>G (p.Thr20242Ala)
c.60349A>G (p.Thr20117Ala)
c.87544A>G (p.Thr29182Ala)
c.82621A>G (p.Thr27541Ala)
n.447-13490T>C
n.2043+15449T>C
c.86641A>G (p.Thr28881Ala)
c.60535A>G (p.Thr20179Ala)
c.60394A>G (p.Thr20132Ala)
c.86437A>G (p.Thr28813Ala)
c.81835A>G (p.Thr27279Ala)
c.81832A>G (p.Thr27278Ala)
c.78874A>G (p.Thr26292Ala)
c.60490A>G (p.Thr20164Ala)
c.81985A>G (p.Thr27329Ala)
c.81982A>G (p.Thr27328Ala)
c.81415A>G (p.Thr27139Ala)
c.78757A>G (p.Thr26253Ala)
c.78676A>G (p.Thr26226Ala)
c.60439A>G (p.Thr20147Ala)
c.50293A>G (p.Thr16765Ala)
2g.178557810T>GCA349535655TTN,TTN-AS1c.79840A>C (p.Thr26614Pro)
c.60925A>C (p.Thr20309Pro)
c.60724A>C (p.Thr20242Pro)
c.60349A>C (p.Thr20117Pro)
c.87544A>C (p.Thr29182Pro)
c.82621A>C (p.Thr27541Pro)
n.447-13490T>G
n.2043+15449T>G
c.86641A>C (p.Thr28881Pro)
c.60535A>C (p.Thr20179Pro)
c.60394A>C (p.Thr20132Pro)
c.86437A>C (p.Thr28813Pro)
c.81835A>C (p.Thr27279Pro)
c.81832A>C (p.Thr27278Pro)
c.78874A>C (p.Thr26292Pro)
c.60490A>C (p.Thr20164Pro)
c.81985A>C (p.Thr27329Pro)
c.81982A>C (p.Thr27328Pro)
c.81415A>C (p.Thr27139Pro)
c.78757A>C (p.Thr26253Pro)
c.78676A>C (p.Thr26226Pro)
c.60439A>C (p.Thr20147Pro)
c.50293A>C (p.Thr16765Pro)
2g.178557811A>CCA349535657TTN,TTN-AS1c.79839T>G (p.Ser26613Arg)
c.60924T>G (p.Ser20308Arg)
c.60723T>G (p.Ser20241Arg)
c.60348T>G (p.Ser20116Arg)
c.87543T>G (p.Ser29181Arg)
c.82620T>G (p.Ser27540Arg)
n.447-13489A>C
n.2043+15450A>C
c.86640T>G (p.Ser28880Arg)
c.60534T>G (p.Ser20178Arg)
c.60393T>G (p.Ser20131Arg)
c.86436T>G (p.Ser28812Arg)
c.81834T>G (p.Ser27278Arg)
c.81831T>G (p.Ser27277Arg)
c.78873T>G (p.Ser26291Arg)
c.60489T>G (p.Ser20163Arg)
c.81984T>G (p.Ser27328Arg)
c.81981T>G (p.Ser27327Arg)
c.81414T>G (p.Ser27138Arg)
c.78756T>G (p.Ser26252Arg)
c.78675T>G (p.Ser26225Arg)
c.60438T>G (p.Ser20146Arg)
c.50292T>G (p.Ser16764Arg)
2g.178557811A>GCA430247705TTN,TTN-AS1c.79839T>C (p.Ser26613=)
c.60924T>C (p.Ser20308=)
c.60723T>C (p.Ser20241=)
c.60348T>C (p.Ser20116=)
c.87543T>C (p.Ser29181=)
c.82620T>C (p.Ser27540=)
n.447-13489A>G
n.2043+15450A>G
c.86640T>C (p.Ser28880=)
c.60534T>C (p.Ser20178=)
c.60393T>C (p.Ser20131=)
c.86436T>C (p.Ser28812=)
c.81834T>C (p.Ser27278=)
c.81831T>C (p.Ser27277=)
c.78873T>C (p.Ser26291=)
c.60489T>C (p.Ser20163=)
c.81984T>C (p.Ser27328=)
c.81981T>C (p.Ser27327=)
c.81414T>C (p.Ser27138=)
c.78756T>C (p.Ser26252=)
c.78675T>C (p.Ser26225=)
c.60438T>C (p.Ser20146=)
c.50292T>C (p.Ser16764=)
2g.178557811A>TCA349535658TTN,TTN-AS1c.79839T>A (p.Ser26613Arg)
c.60924T>A (p.Ser20308Arg)
c.60723T>A (p.Ser20241Arg)
c.60348T>A (p.Ser20116Arg)
c.87543T>A (p.Ser29181Arg)
c.82620T>A (p.Ser27540Arg)
n.447-13489A>T
n.2043+15450A>T
c.86640T>A (p.Ser28880Arg)
c.60534T>A (p.Ser20178Arg)
c.60393T>A (p.Ser20131Arg)
c.86436T>A (p.Ser28812Arg)
c.81834T>A (p.Ser27278Arg)
c.81831T>A (p.Ser27277Arg)
c.78873T>A (p.Ser26291Arg)
c.60489T>A (p.Ser20163Arg)
c.81984T>A (p.Ser27328Arg)
c.81981T>A (p.Ser27327Arg)
c.81414T>A (p.Ser27138Arg)
c.78756T>A (p.Ser26252Arg)
c.78675T>A (p.Ser26225Arg)
c.60438T>A (p.Ser20146Arg)
c.50292T>A (p.Ser16764Arg)
2g.178557812C>ACA349535659TTN,TTN-AS1c.79838G>T (p.Ser26613Ile)
c.60923G>T (p.Ser20308Ile)
c.60722G>T (p.Ser20241Ile)
c.60347G>T (p.Ser20116Ile)
c.87542G>T (p.Ser29181Ile)
c.82619G>T (p.Ser27540Ile)
n.447-13488C>A
n.2043+15451C>A
c.86639G>T (p.Ser28880Ile)
c.60533G>T (p.Ser20178Ile)
c.60392G>T (p.Ser20131Ile)
c.86435G>T (p.Ser28812Ile)
c.81833G>T (p.Ser27278Ile)
c.81830G>T (p.Ser27277Ile)
c.78872G>T (p.Ser26291Ile)
c.60488G>T (p.Ser20163Ile)
c.81983G>T (p.Ser27328Ile)
c.81980G>T (p.Ser27327Ile)
c.81413G>T (p.Ser27138Ile)
c.78755G>T (p.Ser26252Ile)
c.78674G>T (p.Ser26225Ile)
c.60437G>T (p.Ser20146Ile)
c.50291G>T (p.Ser16764Ile)
2g.178557812C=CA1310525937TTN,TTN-AS1c.79838G= (p.Ser26613=)
c.60923G= (p.Ser20308=)
c.60722G= (p.Ser20241=)
c.60347G= (p.Ser20116=)
c.87542G= (p.Ser29181=)
c.82619G= (p.Ser27540=)
n.447-13488C=
n.2043+15451C=
c.86639G= (p.Ser28880=)
c.60533G= (p.Ser20178=)
c.60392G= (p.Ser20131=)
c.86435G= (p.Ser28812=)
c.81833G= (p.Ser27278=)
c.81830G= (p.Ser27277=)
c.78872G= (p.Ser26291=)
c.60488G= (p.Ser20163=)
c.81983G= (p.Ser27328=)
c.81980G= (p.Ser27327=)
c.81413G= (p.Ser27138=)
c.78755G= (p.Ser26252=)
c.78674G= (p.Ser26225=)
c.60437G= (p.Ser20146=)
c.50291G= (p.Ser16764=)
2g.178557812C>GCA349535660TTN,TTN-AS1c.79838G>C (p.Ser26613Thr)
c.60923G>C (p.Ser20308Thr)
c.60722G>C (p.Ser20241Thr)
c.60347G>C (p.Ser20116Thr)
c.87542G>C (p.Ser29181Thr)
c.82619G>C (p.Ser27540Thr)
n.447-13488C>G
n.2043+15451C>G
c.86639G>C (p.Ser28880Thr)
c.60533G>C (p.Ser20178Thr)
c.60392G>C (p.Ser20131Thr)
c.86435G>C (p.Ser28812Thr)
c.81833G>C (p.Ser27278Thr)
c.81830G>C (p.Ser27277Thr)
c.78872G>C (p.Ser26291Thr)
c.60488G>C (p.Ser20163Thr)
c.81983G>C (p.Ser27328Thr)
c.81980G>C (p.Ser27327Thr)
c.81413G>C (p.Ser27138Thr)
c.78755G>C (p.Ser26252Thr)
c.78674G>C (p.Ser26225Thr)
c.60437G>C (p.Ser20146Thr)
c.50291G>C (p.Ser16764Thr)
2g.178557812C>TCA1988306TTN,TTN-AS1c.79838G>A (p.Ser26613Asn)
c.60923G>A (p.Ser20308Asn)
c.60722G>A (p.Ser20241Asn)
c.60347G>A (p.Ser20116Asn)
c.87542G>A (p.Ser29181Asn)
c.82619G>A (p.Ser27540Asn)
n.447-13488C>T
n.2043+15451C>T
c.86639G>A (p.Ser28880Asn)
c.60533G>A (p.Ser20178Asn)
c.60392G>A (p.Ser20131Asn)
c.86435G>A (p.Ser28812Asn)
c.81833G>A (p.Ser27278Asn)
c.81830G>A (p.Ser27277Asn)
c.78872G>A (p.Ser26291Asn)
c.60488G>A (p.Ser20163Asn)
c.81983G>A (p.Ser27328Asn)
c.81980G>A (p.Ser27327Asn)
c.81413G>A (p.Ser27138Asn)
c.78755G>A (p.Ser26252Asn)
c.78674G>A (p.Ser26225Asn)
c.60437G>A (p.Ser20146Asn)
c.50291G>A (p.Ser16764Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.178557813T>ACA349535662TTN,TTN-AS1c.79837A>T (p.Ser26613Cys)
c.60922A>T (p.Ser20308Cys)
c.60721A>T (p.Ser20241Cys)
c.60346A>T (p.Ser20116Cys)
c.87541A>T (p.Ser29181Cys)
c.82618A>T (p.Ser27540Cys)
n.447-13487T>A
n.2043+15452T>A
c.86638A>T (p.Ser28880Cys)
c.60532A>T (p.Ser20178Cys)
c.60391A>T (p.Ser20131Cys)
c.86434A>T (p.Ser28812Cys)
c.81832A>T (p.Ser27278Cys)
c.81829A>T (p.Ser27277Cys)
c.78871A>T (p.Ser26291Cys)
c.60487A>T (p.Ser20163Cys)
c.81982A>T (p.Ser27328Cys)
c.81979A>T (p.Ser27327Cys)
c.81412A>T (p.Ser27138Cys)
c.78754A>T (p.Ser26252Cys)
c.78673A>T (p.Ser26225Cys)
c.60436A>T (p.Ser20146Cys)
c.50290A>T (p.Ser16764Cys)

Number of alleles fetched