Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38560316T>A | CA062799 | SCN5A | c.4073A>T (p.Lys1358Met) c.4076A>T (p.Lys1359Met) c.3914A>T (p.Lys1305Met) c.3947A>T (p.Lys1316Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560316T>C | CA352147134 | SCN5A | c.4073A>G (p.Lys1358Arg) c.4076A>G (p.Lys1359Arg) c.3914A>G (p.Lys1305Arg) c.3947A>G (p.Lys1316Arg) | |
3 | g.38560316T>G | CA352147136 | SCN5A | c.4073A>C (p.Lys1358Thr) c.4076A>C (p.Lys1359Thr) c.3914A>C (p.Lys1305Thr) c.3947A>C (p.Lys1316Thr) | ClinVar dbSNP |
3 | g.38560316T= | CA1358565719 | SCN5A | c.4073A= (p.Lys1358=) c.4076A= (p.Lys1359=) c.3914A= (p.Lys1305=) c.3947A= (p.Lys1316=) | |
3 | g.38560317T>A | CA352147138 | SCN5A | c.4072A>T (p.Lys1358Ter) c.4075A>T (p.Lys1359Ter) c.3913A>T (p.Lys1305Ter) c.3946A>T (p.Lys1316Ter) | dbSNP |
3 | g.38560317T>C | CA352147141 | SCN5A | c.4072A>G (p.Lys1358Glu) c.4075A>G (p.Lys1359Glu) c.3913A>G (p.Lys1305Glu) c.3946A>G (p.Lys1316Glu) | |
3 | g.38560317T>G | CA352147144 | SCN5A | c.4072A>C (p.Lys1358Gln) c.4075A>C (p.Lys1359Gln) c.3913A>C (p.Lys1305Gln) c.3946A>C (p.Lys1316Gln) | |
3 | g.38560317T= | CA1358565720 | SCN5A | c.4072A= (p.Lys1358=) c.4075A= (p.Lys1359=) c.3913A= (p.Lys1305=) c.3946A= (p.Lys1316=) | |
3 | g.38560318C>A | CA433332442 | SCN5A | c.4071G>T (p.Gly1357=) c.4074G>T (p.Gly1358=) c.3912G>T (p.Gly1304=) c.3945G>T (p.Gly1315=) | |
3 | g.38560318C= | CA1358565721 | SCN5A | c.4071G= (p.Gly1357=) c.4074G= (p.Gly1358=) c.3912G= (p.Gly1304=) c.3945G= (p.Gly1315=) | |
3 | g.38560318C>G | CA433332443 | SCN5A | c.4071G>C (p.Gly1357=) c.4074G>C (p.Gly1358=) c.3912G>C (p.Gly1304=) c.3945G>C (p.Gly1315=) | |
3 | g.38560318C>T | CA062794 | SCN5A | c.4071G>A (p.Gly1357=) c.4074G>A (p.Gly1358=) c.3912G>A (p.Gly1304=) c.3945G>A (p.Gly1315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38560319C>A | CA352147160 | SCN5A | c.4070G>T (p.Gly1357Val) c.4073G>T (p.Gly1358Val) c.3911G>T (p.Gly1304Val) c.3944G>T (p.Gly1315Val) | |
3 | g.38560319C= | CA1358565722 | SCN5A | c.4070G= (p.Gly1357=) c.4073G= (p.Gly1358=) c.3911G= (p.Gly1304=) c.3944G= (p.Gly1315=) | |
3 | g.38560319C>G | CA352147158 | SCN5A | c.4070G>C (p.Gly1357Ala) c.4073G>C (p.Gly1358Ala) c.3911G>C (p.Gly1304Ala) c.3944G>C (p.Gly1315Ala) | |
3 | g.38560319C>T | CA352147155 | SCN5A | c.4070G>A (p.Gly1357Glu) c.4073G>A (p.Gly1358Glu) c.3911G>A (p.Gly1304Glu) c.3944G>A (p.Gly1315Glu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38560320C>A | CA017852 | SCN5A | c.4069G>T (p.Gly1357Trp) c.4072G>T (p.Gly1358Trp) c.3910G>T (p.Gly1304Trp) c.3943G>T (p.Gly1315Trp) | ClinVar dbSNP |
3 | g.38560320C= | CA1358565723 | SCN5A | c.4069G= (p.Gly1357=) c.4072G= (p.Gly1358=) c.3910G= (p.Gly1304=) c.3943G= (p.Gly1315=) | |
3 | g.38560320C>G | CA352147166 | SCN5A | c.4069G>C (p.Gly1357Arg) c.4072G>C (p.Gly1358Arg) c.3910G>C (p.Gly1304Arg) c.3943G>C (p.Gly1315Arg) | |
3 | g.38560320C>T | CA352147167 | SCN5A | c.4069G>A (p.Gly1357Arg) c.4072G>A (p.Gly1358Arg) c.3910G>A (p.Gly1304Arg) c.3943G>A (p.Gly1315Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560321C>A | CA433332444 | SCN5A | c.4068G>T (p.Ala1356=) c.4071G>T (p.Ala1357=) c.3909G>T (p.Ala1303=) c.3942G>T (p.Ala1314=) | gnomAD v3 gnomAD v4 |
3 | g.38560321C= | CA1358565724 | SCN5A | c.4068G= (p.Ala1356=) c.4071G= (p.Ala1357=) c.3909G= (p.Ala1303=) c.3942G= (p.Ala1314=) | |
3 | g.38560321C>G | CA433332445 | SCN5A | c.4068G>C (p.Ala1356=) c.4071G>C (p.Ala1357=) c.3909G>C (p.Ala1303=) c.3942G>C (p.Ala1314=) | ClinVar dbSNP |
3 | g.38560321C>T | CA062789 | SCN5A | c.4068G>A (p.Ala1356=) c.4071G>A (p.Ala1357=) c.3909G>A (p.Ala1303=) c.3942G>A (p.Ala1314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38560322G>A | CA017845 | SCN5A | c.4067C>T (p.Ala1356Val) c.4070C>T (p.Ala1357Val) c.3908C>T (p.Ala1303Val) c.3941C>T (p.Ala1314Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560322G>C | CA352147173 | SCN5A | c.4067C>G (p.Ala1356Gly) c.4070C>G (p.Ala1357Gly) c.3908C>G (p.Ala1303Gly) c.3941C>G (p.Ala1314Gly) | gnomAD v4 |
3 | g.38560322G= | CA1358565725 | SCN5A | c.4067C= (p.Ala1356=) c.4070C= (p.Ala1357=) c.3908C= (p.Ala1303=) c.3941C= (p.Ala1314=) | |
3 | g.38560322G>T | CA352147176 | SCN5A | c.4067C>A (p.Ala1356Glu) c.4070C>A (p.Ala1357Glu) c.3908C>A (p.Ala1303Glu) c.3941C>A (p.Ala1314Glu) | gnomAD v4 |
3 | g.38560323C>A | CA352147177 | SCN5A | c.4066G>T (p.Ala1356Ser) c.4069G>T (p.Ala1357Ser) c.3907G>T (p.Ala1303Ser) c.3940G>T (p.Ala1314Ser) | gnomAD v4 |
3 | g.38560323C>G | CA352147178 | SCN5A | c.4066G>C (p.Ala1356Pro) c.4069G>C (p.Ala1357Pro) c.3907G>C (p.Ala1303Pro) c.3940G>C (p.Ala1314Pro) | |
3 | g.38560323C>T | CA352147179 | SCN5A | c.4066G>A (p.Ala1356Thr) c.4069G>A (p.Ala1357Thr) c.3907G>A (p.Ala1303Thr) c.3940G>A (p.Ala1314Thr) | |
3 | g.38560324A= | CA1358565726 | SCN5A | c.4065T= (p.Phe1355=) c.4068T= (p.Phe1356=) c.3906T= (p.Phe1302=) c.3939T= (p.Phe1313=) | |
3 | g.38560324A>C | CA352147182 | SCN5A | c.4065T>G (p.Phe1355Leu) c.4068T>G (p.Phe1356Leu) c.3906T>G (p.Phe1302Leu) c.3939T>G (p.Phe1313Leu) | |
3 | g.38560324A>G | CA433332446 | SCN5A | c.4065T>C (p.Phe1355=) c.4068T>C (p.Phe1356=) c.3906T>C (p.Phe1302=) c.3939T>C (p.Phe1313=) | ClinVar dbSNP |
3 | g.38560324A>T | CA352147184 | SCN5A | c.4065T>A (p.Phe1355Leu) c.4068T>A (p.Phe1356Leu) c.3906T>A (p.Phe1302Leu) c.3939T>A (p.Phe1313Leu) | |
3 | g.38560325_38560326del | CA2586965778 | SCN5A | c.4064_4065del (p.Phe1355CysfsTer29) c.4067_4068del (p.Phe1356CysfsTer29) c.3905_3906del (p.Phe1302CysfsTer29) c.3938_3939del (p.Phe1313CysfsTer29) | |
3 | g.38560325A>C | CA352147189 | SCN5A | c.4064T>G (p.Phe1355Cys) c.4067T>G (p.Phe1356Cys) c.3905T>G (p.Phe1302Cys) c.3938T>G (p.Phe1313Cys) | |
3 | g.38560325A>G | CA352147188 | SCN5A | c.4064T>C (p.Phe1355Ser) c.4067T>C (p.Phe1356Ser) c.3905T>C (p.Phe1302Ser) c.3938T>C (p.Phe1313Ser) | |
3 | g.38560325A>T | CA352147186 | SCN5A | c.4064T>A (p.Phe1355Tyr) c.4067T>A (p.Phe1356Tyr) c.3905T>A (p.Phe1302Tyr) c.3938T>A (p.Phe1313Tyr) | |
3 | g.38560326A>C | CA352147192 | SCN5A | c.4063T>G (p.Phe1355Val) c.4066T>G (p.Phe1356Val) c.3904T>G (p.Phe1302Val) c.3937T>G (p.Phe1313Val) | |
3 | g.38560326A>G | CA352147208 | SCN5A | c.4063T>C (p.Phe1355Leu) c.4066T>C (p.Phe1356Leu) c.3904T>C (p.Phe1302Leu) c.3937T>C (p.Phe1313Leu) | |
3 | g.38560326A>T | CA352147195 | SCN5A | c.4063T>A (p.Phe1355Ile) c.4066T>A (p.Phe1356Ile) c.3904T>A (p.Phe1302Ile) c.3937T>A (p.Phe1313Ile) | |
3 | g.38560327G>A | CA72944832 | SCN5A | c.4062C>T (p.Leu1354=) c.4065C>T (p.Leu1355=) c.3903C>T (p.Leu1301=) c.3936C>T (p.Leu1312=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560327G>C | CA433332447 | SCN5A | c.4062C>G (p.Leu1354=) c.4065C>G (p.Leu1355=) c.3903C>G (p.Leu1301=) c.3936C>G (p.Leu1312=) | |
3 | g.38560327G= | CA1358565727 | SCN5A | c.4062C= (p.Leu1354=) c.4065C= (p.Leu1355=) c.3903C= (p.Leu1301=) c.3936C= (p.Leu1312=) | |
3 | g.38560327G>T | CA433332448 | SCN5A | c.4062C>A (p.Leu1354=) c.4065C>A (p.Leu1355=) c.3903C>A (p.Leu1301=) c.3936C>A (p.Leu1312=) | |
3 | g.38560328A= | CA1358565728 | SCN5A | c.4061T= (p.Leu1354=) c.4064T= (p.Leu1355=) c.3902T= (p.Leu1301=) c.3935T= (p.Leu1312=) | |
3 | g.38560328A>C | CA352147211 | SCN5A | c.4061T>G (p.Leu1354Arg) c.4064T>G (p.Leu1355Arg) c.3902T>G (p.Leu1301Arg) c.3935T>G (p.Leu1312Arg) | |
3 | g.38560328A>G | CA352147218 | SCN5A | c.4061T>C (p.Leu1354Pro) c.4064T>C (p.Leu1355Pro) c.3902T>C (p.Leu1301Pro) c.3935T>C (p.Leu1312Pro) | ClinVar dbSNP |
3 | g.38560328A>T | CA352147214 | SCN5A | c.4061T>A (p.Leu1354His) c.4064T>A (p.Leu1355His) c.3902T>A (p.Leu1301His) c.3935T>A (p.Leu1312His) |