Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178740839G>A | CA349615301 | TTN | c.10361-2479C>T (n.10361-2479C>T) c.11881C>T (p.Leu3961Phe) c.11680C>T (p.Leu3894Phe) c.11305C>T (p.Leu3769Phe) c.12394C>T (p.Leu4132Phe) c.11443C>T (p.Leu3815Phe) c.11491C>T (p.Leu3831Phe) c.11350C>T (p.Leu3784Phe) c.11446C>T (p.Leu3816Phe) c.10364-2479C>T (n.10364-2479C>T) | gnomAD v4 |
2 | g.178740839G>C | CA2002719 | TTN | c.10361-2479C>G (n.10361-2479C>G) c.11881C>G (p.Leu3961Val) c.11680C>G (p.Leu3894Val) c.11305C>G (p.Leu3769Val) c.12394C>G (p.Leu4132Val) c.11443C>G (p.Leu3815Val) c.11491C>G (p.Leu3831Val) c.11350C>G (p.Leu3784Val) c.11446C>G (p.Leu3816Val) c.10364-2479C>G (n.10364-2479C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178740839G= | CA1310601736 | TTN | c.10361-2479C= (n.10361-2479C=) c.11881C= (p.Leu3961=) c.11680C= (p.Leu3894=) c.11305C= (p.Leu3769=) c.12394C= (p.Leu4132=) c.11443C= (p.Leu3815=) c.11491C= (p.Leu3831=) c.11350C= (p.Leu3784=) c.11446C= (p.Leu3816=) c.10364-2479C= (n.10364-2479C=) | |
2 | g.178740839G>T | CA349615303 | TTN | c.10361-2479C>A (n.10361-2479C>A) c.11881C>A (p.Leu3961Ile) c.11680C>A (p.Leu3894Ile) c.11305C>A (p.Leu3769Ile) c.12394C>A (p.Leu4132Ile) c.11443C>A (p.Leu3815Ile) c.11491C>A (p.Leu3831Ile) c.11350C>A (p.Leu3784Ile) c.11446C>A (p.Leu3816Ile) c.10364-2479C>A (n.10364-2479C>A) | gnomAD v4 COSMIC COSMIC |
2 | g.178740840A>C | CA349615306 | TTN | c.10361-2480T>G (n.10361-2480T>G) c.11880T>G (p.Phe3960Leu) c.11679T>G (p.Phe3893Leu) c.11304T>G (p.Phe3768Leu) c.12393T>G (p.Phe4131Leu) c.11442T>G (p.Phe3814Leu) c.11490T>G (p.Phe3830Leu) c.11349T>G (p.Phe3783Leu) c.11445T>G (p.Phe3815Leu) c.10364-2480T>G (n.10364-2480T>G) | |
2 | g.178740840A>G | CA430296546 | TTN | c.10361-2480T>C (n.10361-2480T>C) c.11880T>C (p.Phe3960=) c.11679T>C (p.Phe3893=) c.11304T>C (p.Phe3768=) c.12393T>C (p.Phe4131=) c.11442T>C (p.Phe3814=) c.11490T>C (p.Phe3830=) c.11349T>C (p.Phe3783=) c.11445T>C (p.Phe3815=) c.10364-2480T>C (n.10364-2480T>C) | |
2 | g.178740840A>T | CA349615307 | TTN | c.10361-2480T>A (n.10361-2480T>A) c.11880T>A (p.Phe3960Leu) c.11679T>A (p.Phe3893Leu) c.11304T>A (p.Phe3768Leu) c.12393T>A (p.Phe4131Leu) c.11442T>A (p.Phe3814Leu) c.11490T>A (p.Phe3830Leu) c.11349T>A (p.Phe3783Leu) c.11445T>A (p.Phe3815Leu) c.10364-2480T>A (n.10364-2480T>A) | |
2 | g.178740841A>C | CA349615309 | TTN | c.10361-2481T>G (n.10361-2481T>G) c.11879T>G (p.Phe3960Cys) c.11678T>G (p.Phe3893Cys) c.11303T>G (p.Phe3768Cys) c.12392T>G (p.Phe4131Cys) c.11441T>G (p.Phe3814Cys) c.11489T>G (p.Phe3830Cys) c.11348T>G (p.Phe3783Cys) c.11444T>G (p.Phe3815Cys) c.10364-2481T>G (n.10364-2481T>G) | dbSNP |
2 | g.178740841A>G | CA349615311 | TTN | c.10361-2481T>C (n.10361-2481T>C) c.11879T>C (p.Phe3960Ser) c.11678T>C (p.Phe3893Ser) c.11303T>C (p.Phe3768Ser) c.12392T>C (p.Phe4131Ser) c.11441T>C (p.Phe3814Ser) c.11489T>C (p.Phe3830Ser) c.11348T>C (p.Phe3783Ser) c.11444T>C (p.Phe3815Ser) c.10364-2481T>C (n.10364-2481T>C) | |
2 | g.178740841A>T | CA349615312 | TTN | c.10361-2481T>A (n.10361-2481T>A) c.11879T>A (p.Phe3960Tyr) c.11678T>A (p.Phe3893Tyr) c.11303T>A (p.Phe3768Tyr) c.12392T>A (p.Phe4131Tyr) c.11441T>A (p.Phe3814Tyr) c.11489T>A (p.Phe3830Tyr) c.11348T>A (p.Phe3783Tyr) c.11444T>A (p.Phe3815Tyr) c.10364-2481T>A (n.10364-2481T>A) | |
2 | g.178740842A= | CA1310601738 | TTN | c.10361-2482T= (n.10361-2482T=) c.11878T= (p.Phe3960=) c.11677T= (p.Phe3893=) c.11302T= (p.Phe3768=) c.12391T= (p.Phe4131=) c.11440T= (p.Phe3814=) c.11488T= (p.Phe3830=) c.11347T= (p.Phe3783=) c.11443T= (p.Phe3815=) c.10364-2482T= (n.10364-2482T=) | |
2 | g.178740842A>C | CA349615316 | TTN | c.10361-2482T>G (n.10361-2482T>G) c.11878T>G (p.Phe3960Val) c.11677T>G (p.Phe3893Val) c.11302T>G (p.Phe3768Val) c.12391T>G (p.Phe4131Val) c.11440T>G (p.Phe3814Val) c.11488T>G (p.Phe3830Val) c.11347T>G (p.Phe3783Val) c.11443T>G (p.Phe3815Val) c.10364-2482T>G (n.10364-2482T>G) | |
2 | g.178740842A>G | CA2002721 | TTN | c.10361-2482T>C (n.10361-2482T>C) c.11878T>C (p.Phe3960Leu) c.11677T>C (p.Phe3893Leu) c.11302T>C (p.Phe3768Leu) c.12391T>C (p.Phe4131Leu) c.11440T>C (p.Phe3814Leu) c.11488T>C (p.Phe3830Leu) c.11347T>C (p.Phe3783Leu) c.11443T>C (p.Phe3815Leu) c.10364-2482T>C (n.10364-2482T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178740842A>T | CA2002720 | TTN | c.10361-2482T>A (n.10361-2482T>A) c.11878T>A (p.Phe3960Ile) c.11677T>A (p.Phe3893Ile) c.11302T>A (p.Phe3768Ile) c.12391T>A (p.Phe4131Ile) c.11440T>A (p.Phe3814Ile) c.11488T>A (p.Phe3830Ile) c.11347T>A (p.Phe3783Ile) c.11443T>A (p.Phe3815Ile) c.10364-2482T>A (n.10364-2482T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178740843T>A | CA349615319 | TTN | c.10361-2483A>T (n.10361-2483A>T) c.11877A>T (p.Glu3959Asp) c.11676A>T (p.Glu3892Asp) c.11301A>T (p.Glu3767Asp) c.12390A>T (p.Glu4130Asp) c.11439A>T (p.Glu3813Asp) c.11487A>T (p.Glu3829Asp) c.11346A>T (p.Glu3782Asp) c.11442A>T (p.Glu3814Asp) c.10364-2483A>T (n.10364-2483A>T) | |
2 | g.178740843T>C | CA430296547 | TTN | c.10361-2483A>G (n.10361-2483A>G) c.11877A>G (p.Glu3959=) c.11676A>G (p.Glu3892=) c.11301A>G (p.Glu3767=) c.12390A>G (p.Glu4130=) c.11439A>G (p.Glu3813=) c.11487A>G (p.Glu3829=) c.11346A>G (p.Glu3782=) c.11442A>G (p.Glu3814=) c.10364-2483A>G (n.10364-2483A>G) | |
2 | g.178740843T>G | CA349615320 | TTN | c.10361-2483A>C (n.10361-2483A>C) c.11877A>C (p.Glu3959Asp) c.11676A>C (p.Glu3892Asp) c.11301A>C (p.Glu3767Asp) c.12390A>C (p.Glu4130Asp) c.11439A>C (p.Glu3813Asp) c.11487A>C (p.Glu3829Asp) c.11346A>C (p.Glu3782Asp) c.11442A>C (p.Glu3814Asp) c.10364-2483A>C (n.10364-2483A>C) | COSMIC COSMIC |
2 | g.178740844T>A | CA2002722 | TTN | c.10361-2484A>T (n.10361-2484A>T) c.11876A>T (p.Glu3959Val) c.11675A>T (p.Glu3892Val) c.11300A>T (p.Glu3767Val) c.12389A>T (p.Glu4130Val) c.11438A>T (p.Glu3813Val) c.11486A>T (p.Glu3829Val) c.11345A>T (p.Glu3782Val) c.11441A>T (p.Glu3814Val) c.10364-2484A>T (n.10364-2484A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178740844T>C | CA349615323 | TTN | c.10361-2484A>G (n.10361-2484A>G) c.11876A>G (p.Glu3959Gly) c.11675A>G (p.Glu3892Gly) c.11300A>G (p.Glu3767Gly) c.12389A>G (p.Glu4130Gly) c.11438A>G (p.Glu3813Gly) c.11486A>G (p.Glu3829Gly) c.11345A>G (p.Glu3782Gly) c.11441A>G (p.Glu3814Gly) c.10364-2484A>G (n.10364-2484A>G) | |
2 | g.178740844T>G | CA349615324 | TTN | c.10361-2484A>C (n.10361-2484A>C) c.11876A>C (p.Glu3959Ala) c.11675A>C (p.Glu3892Ala) c.11300A>C (p.Glu3767Ala) c.12389A>C (p.Glu4130Ala) c.11438A>C (p.Glu3813Ala) c.11486A>C (p.Glu3829Ala) c.11345A>C (p.Glu3782Ala) c.11441A>C (p.Glu3814Ala) c.10364-2484A>C (n.10364-2484A>C) | dbSNP |
2 | g.178740844T= | CA1310601741 | TTN | c.10361-2484A= (n.10361-2484A=) c.11876A= (p.Glu3959=) c.11675A= (p.Glu3892=) c.11300A= (p.Glu3767=) c.12389A= (p.Glu4130=) c.11438A= (p.Glu3813=) c.11486A= (p.Glu3829=) c.11345A= (p.Glu3782=) c.11441A= (p.Glu3814=) c.10364-2484A= (n.10364-2484A=) | |
2 | g.178740845C>A | CA349615328 | TTN | c.10361-2485G>T (n.10361-2485G>T) c.11875G>T (p.Glu3959Ter) c.11674G>T (p.Glu3892Ter) c.11299G>T (p.Glu3767Ter) c.12388G>T (p.Glu4130Ter) c.11437G>T (p.Glu3813Ter) c.11485G>T (p.Glu3829Ter) c.11344G>T (p.Glu3782Ter) c.11440G>T (p.Glu3814Ter) c.10364-2485G>T (n.10364-2485G>T) | |
2 | g.178740845C>G | CA349615329 | TTN | c.10361-2485G>C (n.10361-2485G>C) c.11875G>C (p.Glu3959Gln) c.11674G>C (p.Glu3892Gln) c.11299G>C (p.Glu3767Gln) c.12388G>C (p.Glu4130Gln) c.11437G>C (p.Glu3813Gln) c.11485G>C (p.Glu3829Gln) c.11344G>C (p.Glu3782Gln) c.11440G>C (p.Glu3814Gln) c.10364-2485G>C (n.10364-2485G>C) | |
2 | g.178740845C>T | CA349615330 | TTN | c.10361-2485G>A (n.10361-2485G>A) c.11875G>A (p.Glu3959Lys) c.11674G>A (p.Glu3892Lys) c.11299G>A (p.Glu3767Lys) c.12388G>A (p.Glu4130Lys) c.11437G>A (p.Glu3813Lys) c.11485G>A (p.Glu3829Lys) c.11344G>A (p.Glu3782Lys) c.11440G>A (p.Glu3814Lys) c.10364-2485G>A (n.10364-2485G>A) | COSMIC COSMIC |
2 | g.178740846C>A | CA349615333 | TTN | c.10361-2486G>T (n.10361-2486G>T) c.11874G>T (p.Arg3958Ser) c.11673G>T (p.Arg3891Ser) c.11298G>T (p.Arg3766Ser) c.12387G>T (p.Arg4129Ser) c.11436G>T (p.Arg3812Ser) c.11484G>T (p.Arg3828Ser) c.11343G>T (p.Arg3781Ser) c.11439G>T (p.Arg3813Ser) c.10364-2486G>T (n.10364-2486G>T) | |
2 | g.178740846C= | CA1310601743 | TTN | c.10361-2486G= (n.10361-2486G=) c.11874G= (p.Arg3958=) c.11673G= (p.Arg3891=) c.11298G= (p.Arg3766=) c.12387G= (p.Arg4129=) c.11436G= (p.Arg3812=) c.11484G= (p.Arg3828=) c.11343G= (p.Arg3781=) c.11439G= (p.Arg3813=) c.10364-2486G= (n.10364-2486G=) | |
2 | g.178740846C>G | CA238161 | TTN | c.10361-2486G>C (n.10361-2486G>C) c.11874G>C (p.Arg3958Ser) c.11673G>C (p.Arg3891Ser) c.11298G>C (p.Arg3766Ser) c.12387G>C (p.Arg4129Ser) c.11436G>C (p.Arg3812Ser) c.11484G>C (p.Arg3828Ser) c.11343G>C (p.Arg3781Ser) c.11439G>C (p.Arg3813Ser) c.10364-2486G>C (n.10364-2486G>C) | ClinVar dbSNP gnomAD v4 |
2 | g.178740846C>T | CA2002723 | TTN | c.10361-2486G>A (n.10361-2486G>A) c.11874G>A (p.Arg3958=) c.11673G>A (p.Arg3891=) c.11298G>A (p.Arg3766=) c.12387G>A (p.Arg4129=) c.11436G>A (p.Arg3812=) c.11484G>A (p.Arg3828=) c.11343G>A (p.Arg3781=) c.11439G>A (p.Arg3813=) c.10364-2486G>A (n.10364-2486G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178740847C>A | CA349615338 | TTN | c.10361-2487G>T (n.10361-2487G>T) c.11873G>T (p.Arg3958Met) c.11672G>T (p.Arg3891Met) c.11297G>T (p.Arg3766Met) c.12386G>T (p.Arg4129Met) c.11435G>T (p.Arg3812Met) c.11483G>T (p.Arg3828Met) c.11342G>T (p.Arg3781Met) c.11438G>T (p.Arg3813Met) c.10364-2487G>T (n.10364-2487G>T) | |
2 | g.178740847C>G | CA349615339 | TTN | c.10361-2487G>C (n.10361-2487G>C) c.11873G>C (p.Arg3958Thr) c.11672G>C (p.Arg3891Thr) c.11297G>C (p.Arg3766Thr) c.12386G>C (p.Arg4129Thr) c.11435G>C (p.Arg3812Thr) c.11483G>C (p.Arg3828Thr) c.11342G>C (p.Arg3781Thr) c.11438G>C (p.Arg3813Thr) c.10364-2487G>C (n.10364-2487G>C) | |
2 | g.178740847C>T | CA349615341 | TTN | c.10361-2487G>A (n.10361-2487G>A) c.11873G>A (p.Arg3958Lys) c.11672G>A (p.Arg3891Lys) c.11297G>A (p.Arg3766Lys) c.12386G>A (p.Arg4129Lys) c.11435G>A (p.Arg3812Lys) c.11483G>A (p.Arg3828Lys) c.11342G>A (p.Arg3781Lys) c.11438G>A (p.Arg3813Lys) c.10364-2487G>A (n.10364-2487G>A) | |
2 | g.178740848T>A | CA349615344 | TTN | c.10361-2488A>T (n.10361-2488A>T) c.11872A>T (p.Arg3958Trp) c.11671A>T (p.Arg3891Trp) c.11296A>T (p.Arg3766Trp) c.12385A>T (p.Arg4129Trp) c.11434A>T (p.Arg3812Trp) c.11482A>T (p.Arg3828Trp) c.11341A>T (p.Arg3781Trp) c.11437A>T (p.Arg3813Trp) c.10364-2488A>T (n.10364-2488A>T) | |
2 | g.178740848T>C | CA349615345 | TTN | c.10361-2488A>G (n.10361-2488A>G) c.11872A>G (p.Arg3958Gly) c.11671A>G (p.Arg3891Gly) c.11296A>G (p.Arg3766Gly) c.12385A>G (p.Arg4129Gly) c.11434A>G (p.Arg3812Gly) c.11482A>G (p.Arg3828Gly) c.11341A>G (p.Arg3781Gly) c.11437A>G (p.Arg3813Gly) c.10364-2488A>G (n.10364-2488A>G) | |
2 | g.178740848T>G | CA430296549 | TTN | c.10361-2488A>C (n.10361-2488A>C) c.11872A>C (p.Arg3958=) c.11671A>C (p.Arg3891=) c.11296A>C (p.Arg3766=) c.12385A>C (p.Arg4129=) c.11434A>C (p.Arg3812=) c.11482A>C (p.Arg3828=) c.11341A>C (p.Arg3781=) c.11437A>C (p.Arg3813=) c.10364-2488A>C (n.10364-2488A>C) | |
2 | g.178740849G>A | CA430296551 | TTN | c.10361-2489C>T (n.10361-2489C>T) c.11871C>T (p.Thr3957=) c.11670C>T (p.Thr3890=) c.11295C>T (p.Thr3765=) c.12384C>T (p.Thr4128=) c.11433C>T (p.Thr3811=) c.11481C>T (p.Thr3827=) c.11340C>T (p.Thr3780=) c.11436C>T (p.Thr3812=) c.10364-2489C>T (n.10364-2489C>T) | |
2 | g.178740849G>C | CA430296552 | TTN | c.10361-2489C>G (n.10361-2489C>G) c.11871C>G (p.Thr3957=) c.11670C>G (p.Thr3890=) c.11295C>G (p.Thr3765=) c.12384C>G (p.Thr4128=) c.11433C>G (p.Thr3811=) c.11481C>G (p.Thr3827=) c.11340C>G (p.Thr3780=) c.11436C>G (p.Thr3812=) c.10364-2489C>G (n.10364-2489C>G) | dbSNP |
2 | g.178740849G= | CA1310601747 | TTN | c.10361-2489C= (n.10361-2489C=) c.11871C= (p.Thr3957=) c.11670C= (p.Thr3890=) c.11295C= (p.Thr3765=) c.12384C= (p.Thr4128=) c.11433C= (p.Thr3811=) c.11481C= (p.Thr3827=) c.11340C= (p.Thr3780=) c.11436C= (p.Thr3812=) c.10364-2489C= (n.10364-2489C=) | |
2 | g.178740849G>T | CA2002724 | TTN | c.10361-2489C>A (n.10361-2489C>A) c.11871C>A (p.Thr3957=) c.11670C>A (p.Thr3890=) c.11295C>A (p.Thr3765=) c.12384C>A (p.Thr4128=) c.11433C>A (p.Thr3811=) c.11481C>A (p.Thr3827=) c.11340C>A (p.Thr3780=) c.11436C>A (p.Thr3812=) c.10364-2489C>A (n.10364-2489C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178740850G>A | CA349615349 | TTN | c.10361-2490C>T (n.10361-2490C>T) c.11870C>T (p.Thr3957Ile) c.11669C>T (p.Thr3890Ile) c.11294C>T (p.Thr3765Ile) c.12383C>T (p.Thr4128Ile) c.11432C>T (p.Thr3811Ile) c.11480C>T (p.Thr3827Ile) c.11339C>T (p.Thr3780Ile) c.11435C>T (p.Thr3812Ile) c.10364-2490C>T (n.10364-2490C>T) | |
2 | g.178740850G>C | CA349615351 | TTN | c.10361-2490C>G (n.10361-2490C>G) c.11870C>G (p.Thr3957Ser) c.11669C>G (p.Thr3890Ser) c.11294C>G (p.Thr3765Ser) c.12383C>G (p.Thr4128Ser) c.11432C>G (p.Thr3811Ser) c.11480C>G (p.Thr3827Ser) c.11339C>G (p.Thr3780Ser) c.11435C>G (p.Thr3812Ser) c.10364-2490C>G (n.10364-2490C>G) | |
2 | g.178740850G>T | CA349615353 | TTN | c.10361-2490C>A (n.10361-2490C>A) c.11870C>A (p.Thr3957Asn) c.11669C>A (p.Thr3890Asn) c.11294C>A (p.Thr3765Asn) c.12383C>A (p.Thr4128Asn) c.11432C>A (p.Thr3811Asn) c.11480C>A (p.Thr3827Asn) c.11339C>A (p.Thr3780Asn) c.11435C>A (p.Thr3812Asn) c.10364-2490C>A (n.10364-2490C>A) | |
2 | g.178740851T>A | CA349615355 | TTN | c.10361-2491A>T (n.10361-2491A>T) c.11869A>T (p.Thr3957Ser) c.11668A>T (p.Thr3890Ser) c.11293A>T (p.Thr3765Ser) c.12382A>T (p.Thr4128Ser) c.11431A>T (p.Thr3811Ser) c.11479A>T (p.Thr3827Ser) c.11338A>T (p.Thr3780Ser) c.11434A>T (p.Thr3812Ser) c.10364-2491A>T (n.10364-2491A>T) | |
2 | g.178740851T>C | CA349615357 | TTN | c.10361-2491A>G (n.10361-2491A>G) c.11869A>G (p.Thr3957Ala) c.11668A>G (p.Thr3890Ala) c.11293A>G (p.Thr3765Ala) c.12382A>G (p.Thr4128Ala) c.11431A>G (p.Thr3811Ala) c.11479A>G (p.Thr3827Ala) c.11338A>G (p.Thr3780Ala) c.11434A>G (p.Thr3812Ala) c.10364-2491A>G (n.10364-2491A>G) | |
2 | g.178740851T>G | CA349615358 | TTN | c.10361-2491A>C (n.10361-2491A>C) c.11869A>C (p.Thr3957Pro) c.11668A>C (p.Thr3890Pro) c.11293A>C (p.Thr3765Pro) c.12382A>C (p.Thr4128Pro) c.11431A>C (p.Thr3811Pro) c.11479A>C (p.Thr3827Pro) c.11338A>C (p.Thr3780Pro) c.11434A>C (p.Thr3812Pro) c.10364-2491A>C (n.10364-2491A>C) | |
2 | g.178740852G>A | CA430296553 | TTN | c.10361-2492C>T (n.10361-2492C>T) c.11868C>T (p.Ser3956=) c.11667C>T (p.Ser3889=) c.11292C>T (p.Ser3764=) c.12381C>T (p.Ser4127=) c.11430C>T (p.Ser3810=) c.11478C>T (p.Ser3826=) c.11337C>T (p.Ser3779=) c.11433C>T (p.Ser3811=) c.10364-2492C>T (n.10364-2492C>T) | ClinVar |
2 | g.178740852G>C | CA349615360 | TTN | c.10361-2492C>G (n.10361-2492C>G) c.11868C>G (p.Ser3956Arg) c.11667C>G (p.Ser3889Arg) c.11292C>G (p.Ser3764Arg) c.12381C>G (p.Ser4127Arg) c.11430C>G (p.Ser3810Arg) c.11478C>G (p.Ser3826Arg) c.11337C>G (p.Ser3779Arg) c.11433C>G (p.Ser3811Arg) c.10364-2492C>G (n.10364-2492C>G) | |
2 | g.178740852G>T | CA349615361 | TTN | c.10361-2492C>A (n.10361-2492C>A) c.11868C>A (p.Ser3956Arg) c.11667C>A (p.Ser3889Arg) c.11292C>A (p.Ser3764Arg) c.12381C>A (p.Ser4127Arg) c.11430C>A (p.Ser3810Arg) c.11478C>A (p.Ser3826Arg) c.11337C>A (p.Ser3779Arg) c.11433C>A (p.Ser3811Arg) c.10364-2492C>A (n.10364-2492C>A) | |
2 | g.178740853C>A | CA349615363 | TTN | c.10361-2493G>T (n.10361-2493G>T) c.11867G>T (p.Ser3956Ile) c.11666G>T (p.Ser3889Ile) c.11291G>T (p.Ser3764Ile) c.12380G>T (p.Ser4127Ile) c.11429G>T (p.Ser3810Ile) c.11477G>T (p.Ser3826Ile) c.11336G>T (p.Ser3779Ile) c.11432G>T (p.Ser3811Ile) c.10364-2493G>T (n.10364-2493G>T) | |
2 | g.178740853C>G | CA349615364 | TTN | c.10361-2493G>C (n.10361-2493G>C) c.11867G>C (p.Ser3956Thr) c.11666G>C (p.Ser3889Thr) c.11291G>C (p.Ser3764Thr) c.12380G>C (p.Ser4127Thr) c.11429G>C (p.Ser3810Thr) c.11477G>C (p.Ser3826Thr) c.11336G>C (p.Ser3779Thr) c.11432G>C (p.Ser3811Thr) c.10364-2493G>C (n.10364-2493G>C) | |
2 | g.178740853C>T | CA349615366 | TTN | c.10361-2493G>A (n.10361-2493G>A) c.11867G>A (p.Ser3956Asn) c.11666G>A (p.Ser3889Asn) c.11291G>A (p.Ser3764Asn) c.12380G>A (p.Ser4127Asn) c.11429G>A (p.Ser3810Asn) c.11477G>A (p.Ser3826Asn) c.11336G>A (p.Ser3779Asn) c.11432G>A (p.Ser3811Asn) c.10364-2493G>A (n.10364-2493G>A) |