Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178557800C>A | CA349535610 | TTN,TTN-AS1 | c.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) | |
2 | g.178557800C= | CA1310525930 | TTN,TTN-AS1 | c.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=) | |
2 | g.178557800C>G | CA349535611 | TTN,TTN-AS1 | c.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) | |
2 | g.178557800C>T | CA16042363 | TTN,TTN-AS1 | c.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 |
2 | g.178557801A= | CA1310525931 | TTN,TTN-AS1 | c.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=) | |
2 | g.178557801A>C | CA349535612 | TTN,TTN-AS1 | c.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 |
2 | g.178557801A>G | CA1988304 | TTN,TTN-AS1 | c.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 |
2 | g.178557801A>T | CA349535614 | TTN,TTN-AS1 | c.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) | |
2 | g.178557801_178557802insGG | CA2553087767 | TTN,TTN-AS1 | c.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) | |
2 | g.178557802C>A | CA430247680 | TTN,TTN-AS1 | c.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=) | |
2 | g.178557802C>G | CA430247681 | TTN,TTN-AS1 | c.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=) | |
2 | g.178557802C>T | CA430247682 | TTN,TTN-AS1 | c.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 |
2 | g.178557803A>C | CA349535615 | TTN,TTN-AS1 | c.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 |
2 | g.178557803A>G | CA349535616 | TTN,TTN-AS1 | c.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 |
2 | g.178557803A>T | CA349535619 | TTN,TTN-AS1 | c.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) | |
2 | g.178557804C>A | CA349535629 | TTN,TTN-AS1 | c.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 |
2 | g.178557804C= | CA1310525932 | TTN,TTN-AS1 | c.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=) | |
2 | g.178557804C>G | CA349535623 | TTN,TTN-AS1 | c.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) | |
2 | g.178557804C>T | CA60981703 | TTN,TTN-AS1 | c.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 |
2 | g.178557804_178557805del | CA2502201646 | TTN,TTN-AS1 | c.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) | |
2 | g.178557805T>A | CA430247689 | TTN,TTN-AS1 | c.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 |
2 | g.178557805T>C | CA430247691 | TTN,TTN-AS1 | c.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=) | |
2 | g.178557805T>G | CA430247692 | TTN,TTN-AS1 | c.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=) | |
2 | g.178557805T= | CA1310525933 | TTN,TTN-AS1 | c.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=) | |
2 | g.178557806G>A | CA349535632 | TTN,TTN-AS1 | c.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 |
2 | g.178557806G>C | CA349535634 | TTN,TTN-AS1 | c.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) | |
2 | g.178557806G= | CA1310525934 | TTN,TTN-AS1 | c.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=) | |
2 | g.178557806G>T | CA1988305 | TTN,TTN-AS1 | c.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 |
2 | g.178557807C>A | CA349535635 | TTN,TTN-AS1 | c.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) | |
2 | g.178557807C>G | CA349535636 | TTN,TTN-AS1 | c.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) | |
2 | g.178557807C>T | CA349535637 | TTN,TTN-AS1 | c.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 |
2 | g.178557808A= | CA1310525935 | TTN,TTN-AS1 | c.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=) | |
2 | g.178557808A>C | CA430247695 | TTN,TTN-AS1 | c.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 |
2 | g.178557808A>G | CA430247697 | TTN,TTN-AS1 | c.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=) | |
2 | g.178557808A>T | CA430247694 | TTN,TTN-AS1 | c.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 |
2 | g.178557809G>A | CA349535647 | TTN,TTN-AS1 | c.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 |
2 | g.178557809G>C | CA349535639 | TTN,TTN-AS1 | c.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) | |
2 | g.178557809G= | CA1310525936 | TTN,TTN-AS1 | c.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=) | |
2 | g.178557809G>T | CA349535645 | TTN,TTN-AS1 | c.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) | |
2 | g.178557810T>A | CA349535648 | TTN,TTN-AS1 | c.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) | |
2 | g.178557810T>C | CA349535652 | TTN,TTN-AS1 | c.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) | |
2 | g.178557810T>G | CA349535655 | TTN,TTN-AS1 | c.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) | |
2 | g.178557811A>C | CA349535657 | TTN,TTN-AS1 | c.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) | |
2 | g.178557811A>G | CA430247705 | TTN,TTN-AS1 | c.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=) | |
2 | g.178557811A>T | CA349535658 | TTN,TTN-AS1 | c.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) | |
2 | g.178557812C>A | CA349535659 | TTN,TTN-AS1 | c.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) | |
2 | g.178557812C= | CA1310525937 | TTN,TTN-AS1 | c.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=) | |
2 | g.178557812C>G | CA349535660 | TTN,TTN-AS1 | c.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) | |
2 | g.178557812C>T | CA1988306 | TTN,TTN-AS1 | c.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 |
2 | g.178557813T>A | CA349535662 | TTN,TTN-AS1 | c.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) |