Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38566430C>A | CA062309 | SCN5A | c.3816G>T (p.Trp1272Cys) c.3819G>T (p.Trp1273Cys) c.3657G>T (p.Trp1219Cys) c.3690G>T (p.Trp1230Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38566430C= | CA1358569472 | SCN5A | c.3816G= (p.Trp1272=) c.3819G= (p.Trp1273=) c.3657G= (p.Trp1219=) c.3690G= (p.Trp1230=) | |
3 | g.38566430C>G | CA352148919 | SCN5A | c.3816G>C (p.Trp1272Cys) c.3819G>C (p.Trp1273Cys) c.3657G>C (p.Trp1219Cys) c.3690G>C (p.Trp1230Cys) | gnomAD v4 |
3 | g.38566430C>T | CA352148921 | SCN5A | c.3816G>A (p.Trp1272Ter) c.3819G>A (p.Trp1273Ter) c.3657G>A (p.Trp1219Ter) c.3690G>A (p.Trp1230Ter) | ClinVar dbSNP |
3 | g.38566431C>A | CA352148924 | SCN5A | c.3815G>T (p.Trp1272Leu) c.3818G>T (p.Trp1273Leu) c.3656G>T (p.Trp1219Leu) c.3689G>T (p.Trp1230Leu) | |
3 | g.38566431C>G | CA352148925 | SCN5A | c.3815G>C (p.Trp1272Ser) c.3818G>C (p.Trp1273Ser) c.3656G>C (p.Trp1219Ser) c.3689G>C (p.Trp1230Ser) | |
3 | g.38566431C>T | CA352148923 | SCN5A | c.3815G>A (p.Trp1272Ter) c.3818G>A (p.Trp1273Ter) c.3656G>A (p.Trp1219Ter) c.3689G>A (p.Trp1230Ter) | |
3 | g.38566432A= | CA1358569477 | SCN5A | c.3814T= (p.Trp1272=) c.3817T= (p.Trp1273=) c.3655T= (p.Trp1219=) c.3688T= (p.Trp1230=) | |
3 | g.38566432A>C | CA352148927 | SCN5A | c.3814T>G (p.Trp1272Gly) c.3817T>G (p.Trp1273Gly) c.3655T>G (p.Trp1219Gly) c.3688T>G (p.Trp1230Gly) | ClinVar dbSNP |
3 | g.38566432A>G | CA352148928 | SCN5A | c.3814T>C (p.Trp1272Arg) c.3817T>C (p.Trp1273Arg) c.3655T>C (p.Trp1219Arg) c.3688T>C (p.Trp1230Arg) | |
3 | g.38566432A>T | CA352148930 | SCN5A | c.3814T>A (p.Trp1272Arg) c.3817T>A (p.Trp1273Arg) c.3655T>A (p.Trp1219Arg) c.3688T>A (p.Trp1230Arg) | |
3 | g.38566433G>A | CA433136701 | SCN5A | c.3813C>T (p.Cys1271=) c.3816C>T (p.Cys1272=) c.3654C>T (p.Cys1218=) c.3687C>T (p.Cys1229=) | |
3 | g.38566433G>C | CA352148932 | SCN5A | c.3813C>G (p.Cys1271Trp) c.3816C>G (p.Cys1272Trp) c.3654C>G (p.Cys1218Trp) c.3687C>G (p.Cys1229Trp) | |
3 | g.38566433G= | CA1358569479 | SCN5A | c.3813C= (p.Cys1271=) c.3816C= (p.Cys1272=) c.3654C= (p.Cys1218=) c.3687C= (p.Cys1229=) | |
3 | g.38566433G>T | CA352148934 | SCN5A | c.3813C>A (p.Cys1271Ter) c.3816C>A (p.Cys1272Ter) c.3654C>A (p.Cys1218Ter) c.3687C>A (p.Cys1229Ter) | dbSNP |
3 | g.38566434C>A | CA352148936 | SCN5A | c.3812G>T (p.Cys1271Phe) c.3815G>T (p.Cys1272Phe) c.3653G>T (p.Cys1218Phe) c.3686G>T (p.Cys1229Phe) | |
3 | g.38566434C>G | CA352148938 | SCN5A | c.3812G>C (p.Cys1271Ser) c.3815G>C (p.Cys1272Ser) c.3653G>C (p.Cys1218Ser) c.3686G>C (p.Cys1229Ser) | |
3 | g.38566434C>T | CA352148940 | SCN5A | c.3812G>A (p.Cys1271Tyr) c.3815G>A (p.Cys1272Tyr) c.3653G>A (p.Cys1218Tyr) c.3686G>A (p.Cys1229Tyr) | ClinVar |
3 | g.38566435A>C | CA352148942 | SCN5A | c.3811T>G (p.Cys1271Gly) c.3814T>G (p.Cys1272Gly) c.3652T>G (p.Cys1218Gly) c.3685T>G (p.Cys1229Gly) | |
3 | g.38566435A>G | CA352148944 | SCN5A | c.3811T>C (p.Cys1271Arg) c.3814T>C (p.Cys1272Arg) c.3652T>C (p.Cys1218Arg) c.3685T>C (p.Cys1229Arg) | |
3 | g.38566435A>T | CA352148946 | SCN5A | c.3811T>A (p.Cys1271Ser) c.3814T>A (p.Cys1272Ser) c.3652T>A (p.Cys1218Ser) c.3685T>A (p.Cys1229Ser) | |
3 | g.38566436C>A | CA352148951 | SCN5A | c.3810G>T (p.Trp1270Cys) c.3813G>T (p.Trp1271Cys) c.3651G>T (p.Trp1217Cys) c.3684G>T (p.Trp1228Cys) | |
3 | g.38566436C= | CA1358569482 | SCN5A | c.3810G= (p.Trp1270=) c.3813G= (p.Trp1271=) c.3651G= (p.Trp1217=) c.3684G= (p.Trp1228=) | |
3 | g.38566436C>G | CA017524 | SCN5A | c.3810G>C (p.Trp1270Cys) c.3813G>C (p.Trp1271Cys) c.3651G>C (p.Trp1217Cys) c.3684G>C (p.Trp1228Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.38566436C>T | CA352148948 | SCN5A | c.3810G>A (p.Trp1270Ter) c.3813G>A (p.Trp1271Ter) c.3651G>A (p.Trp1217Ter) c.3684G>A (p.Trp1228Ter) | ClinVar dbSNP |
3 | g.38566437C>A | CA352148952 | SCN5A | c.3809G>T (p.Trp1270Leu) c.3812G>T (p.Trp1271Leu) c.3650G>T (p.Trp1217Leu) c.3683G>T (p.Trp1228Leu) | |
3 | g.38566437C= | CA1358569489 | SCN5A | c.3809G= (p.Trp1270=) c.3812G= (p.Trp1271=) c.3650G= (p.Trp1217=) c.3683G= (p.Trp1228=) | |
3 | g.38566437C>G | CA352148954 | SCN5A | c.3809G>C (p.Trp1270Ser) c.3812G>C (p.Trp1271Ser) c.3650G>C (p.Trp1217Ser) c.3683G>C (p.Trp1228Ser) | |
3 | g.38566437C>T | CA352148956 | SCN5A | c.3809G>A (p.Trp1270Ter) c.3812G>A (p.Trp1271Ter) c.3650G>A (p.Trp1217Ter) c.3683G>A (p.Trp1228Ter) | ClinVar dbSNP |
3 | g.38566438A>C | CA352148958 | SCN5A | c.3808T>G (p.Trp1270Gly) c.3811T>G (p.Trp1271Gly) c.3649T>G (p.Trp1217Gly) c.3682T>G (p.Trp1228Gly) | |
3 | g.38566438A>G | CA352148960 | SCN5A | c.3808T>C (p.Trp1270Arg) c.3811T>C (p.Trp1271Arg) c.3649T>C (p.Trp1217Arg) c.3682T>C (p.Trp1228Arg) | |
3 | g.38566438A>T | CA352148962 | SCN5A | c.3808T>A (p.Trp1270Arg) c.3811T>A (p.Trp1271Arg) c.3649T>A (p.Trp1217Arg) c.3682T>A (p.Trp1228Arg) | |
3 | g.38566439G>A | CA017518 | SCN5A | c.3807C>T (p.Ala1269=) c.3810C>T (p.Ala1270=) c.3648C>T (p.Ala1216=) c.3681C>T (p.Ala1227=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566439G>C | CA433136709 | SCN5A | c.3807C>G (p.Ala1269=) c.3810C>G (p.Ala1270=) c.3648C>G (p.Ala1216=) c.3681C>G (p.Ala1227=) | COSMIC COSMIC COSMIC |
3 | g.38566439G= | CA1358569496 | SCN5A | c.3807C= (p.Ala1269=) c.3810C= (p.Ala1270=) c.3648C= (p.Ala1216=) c.3681C= (p.Ala1227=) | |
3 | g.38566439G>T | CA433136710 | SCN5A | c.3807C>A (p.Ala1269=) c.3810C>A (p.Ala1270=) c.3648C>A (p.Ala1216=) c.3681C>A (p.Ala1227=) | |
3 | g.38566440G>A | CA352148964 | SCN5A | c.3806C>T (p.Ala1269Val) c.3809C>T (p.Ala1270Val) c.3647C>T (p.Ala1216Val) c.3680C>T (p.Ala1227Val) | |
3 | g.38566440G>C | CA352148966 | SCN5A | c.3806C>G (p.Ala1269Gly) c.3809C>G (p.Ala1270Gly) c.3647C>G (p.Ala1216Gly) c.3680C>G (p.Ala1227Gly) | |
3 | g.38566440G>T | CA352148968 | SCN5A | c.3806C>A (p.Ala1269Asp) c.3809C>A (p.Ala1270Asp) c.3647C>A (p.Ala1216Asp) c.3680C>A (p.Ala1227Asp) | |
3 | g.38566441C>A | CA352148969 | SCN5A | c.3805G>T (p.Ala1269Ser) c.3808G>T (p.Ala1270Ser) c.3646G>T (p.Ala1216Ser) c.3679G>T (p.Ala1227Ser) | gnomAD v4 |
3 | g.38566441C>G | CA352148971 | SCN5A | c.3805G>C (p.Ala1269Pro) c.3808G>C (p.Ala1270Pro) c.3646G>C (p.Ala1216Pro) c.3679G>C (p.Ala1227Pro) | |
3 | g.38566441C>T | CA352148973 | SCN5A | c.3805G>A (p.Ala1269Thr) c.3808G>A (p.Ala1270Thr) c.3646G>A (p.Ala1216Thr) c.3679G>A (p.Ala1227Thr) | |
3 | g.38566442A>C | CA352148975 | SCN5A | c.3804T>G (p.Asn1268Lys) c.3807T>G (p.Asn1269Lys) c.3645T>G (p.Asn1215Lys) c.3678T>G (p.Asn1226Lys) | |
3 | g.38566442A>G | CA433136715 | SCN5A | c.3804T>C (p.Asn1268=) c.3807T>C (p.Asn1269=) c.3645T>C (p.Asn1215=) c.3678T>C (p.Asn1226=) | ClinVar gnomAD v4 |
3 | g.38566442A>T | CA352148977 | SCN5A | c.3804T>A (p.Asn1268Lys) c.3807T>A (p.Asn1269Lys) c.3645T>A (p.Asn1215Lys) c.3678T>A (p.Asn1226Lys) | gnomAD v4 |
3 | g.38566443T>A | CA352148980 | SCN5A | c.3803A>T (p.Asn1268Ile) c.3806A>T (p.Asn1269Ile) c.3644A>T (p.Asn1215Ile) c.3677A>T (p.Asn1226Ile) | |
3 | g.38566443T>C | CA062301 | SCN5A | c.3803A>G (p.Asn1268Ser) c.3806A>G (p.Asn1269Ser) c.3644A>G (p.Asn1215Ser) c.3677A>G (p.Asn1226Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38566443T>G | CA352148982 | SCN5A | c.3803A>C (p.Asn1268Thr) c.3806A>C (p.Asn1269Thr) c.3644A>C (p.Asn1215Thr) c.3677A>C (p.Asn1226Thr) | |
3 | g.38566443T= | CA1358569505 | SCN5A | c.3803A= (p.Asn1268=) c.3806A= (p.Asn1269=) c.3644A= (p.Asn1215=) c.3677A= (p.Asn1226=) | |
3 | g.38566444T>A | CA352148984 | SCN5A | c.3802A>T (p.Asn1268Tyr) c.3805A>T (p.Asn1269Tyr) c.3643A>T (p.Asn1215Tyr) c.3676A>T (p.Asn1226Tyr) | |
3 | g.38566444T>C | CA352148986 | SCN5A | c.3802A>G (p.Asn1268Asp) c.3805A>G (p.Asn1269Asp) c.3643A>G (p.Asn1215Asp) c.3676A>G (p.Asn1226Asp) | |
3 | g.38566444T>G | CA352148988 | SCN5A | c.3802A>C (p.Asn1268His) c.3805A>C (p.Asn1269His) c.3643A>C (p.Asn1215His) c.3676A>C (p.Asn1226His) | |
3 | g.38566445G>A | CA433136720 | SCN5A | c.3801C>T (p.Thr1267=) c.3804C>T (p.Thr1268=) c.3642C>T (p.Thr1214=) c.3675C>T (p.Thr1225=) | |
3 | g.38566445G>C | CA433136723 | SCN5A | c.3801C>G (p.Thr1267=) c.3804C>G (p.Thr1268=) c.3642C>G (p.Thr1214=) c.3675C>G (p.Thr1225=) | COSMIC |
3 | g.38566445G>T | CA433136724 | SCN5A | c.3801C>A (p.Thr1267=) c.3804C>A (p.Thr1268=) c.3642C>A (p.Thr1214=) c.3675C>A (p.Thr1225=) | |
3 | g.38566446G>A | CA352148990 | SCN5A | c.3800C>T (p.Thr1267Ile) c.3803C>T (p.Thr1268Ile) c.3641C>T (p.Thr1214Ile) c.3674C>T (p.Thr1225Ile) | |
3 | g.38566446G>C | CA352148992 | SCN5A | c.3800C>G (p.Thr1267Ser) c.3803C>G (p.Thr1268Ser) c.3641C>G (p.Thr1214Ser) c.3674C>G (p.Thr1225Ser) | gnomAD v4 |
3 | g.38566446G= | CA1358569511 | SCN5A | c.3800C= (p.Thr1267=) c.3803C= (p.Thr1268=) c.3641C= (p.Thr1214=) c.3674C= (p.Thr1225=) | |
3 | g.38566446G>T | CA352148993 | SCN5A | c.3800C>A (p.Thr1267Asn) c.3803C>A (p.Thr1268Asn) c.3641C>A (p.Thr1214Asn) c.3674C>A (p.Thr1225Asn) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566447T>A | CA352148995 | SCN5A | c.3799A>T (p.Thr1267Ser) c.3802A>T (p.Thr1268Ser) c.3640A>T (p.Thr1214Ser) c.3673A>T (p.Thr1225Ser) | dbSNP gnomAD v2 |
3 | g.38566447T>C | CA352148997 | SCN5A | c.3799A>G (p.Thr1267Ala) c.3802A>G (p.Thr1268Ala) c.3640A>G (p.Thr1214Ala) c.3673A>G (p.Thr1225Ala) | |
3 | g.38566447T>G | CA352148999 | SCN5A | c.3799A>C (p.Thr1267Pro) c.3802A>C (p.Thr1268Pro) c.3640A>C (p.Thr1214Pro) c.3673A>C (p.Thr1225Pro) | |
3 | g.38566447T= | CA1358569515 | SCN5A | c.3799A= (p.Thr1267=) c.3802A= (p.Thr1268=) c.3640A= (p.Thr1214=) c.3673A= (p.Thr1225=) | |
3 | g.38566448G>A | CA062297 | SCN5A | c.3798C>T (p.Phe1266=) c.3801C>T (p.Phe1267=) c.3639C>T (p.Phe1213=) c.3672C>T (p.Phe1224=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38566448G>C | CA352149002 | SCN5A | c.3798C>G (p.Phe1266Leu) c.3801C>G (p.Phe1267Leu) c.3639C>G (p.Phe1213Leu) c.3672C>G (p.Phe1224Leu) | |
3 | g.38566448G= | CA1358569517 | SCN5A | c.3798C= (p.Phe1266=) c.3801C= (p.Phe1267=) c.3639C= (p.Phe1213=) c.3672C= (p.Phe1224=) | |
3 | g.38566448G>T | CA352149003 | SCN5A | c.3798C>A (p.Phe1266Leu) c.3801C>A (p.Phe1267Leu) c.3639C>A (p.Phe1213Leu) c.3672C>A (p.Phe1224Leu) | |
3 | g.38566449A>C | CA352149007 | SCN5A | c.3797T>G (p.Phe1266Cys) c.3800T>G (p.Phe1267Cys) c.3638T>G (p.Phe1213Cys) c.3671T>G (p.Phe1224Cys) | |
3 | g.38566449A>G | CA352149005 | SCN5A | c.3797T>C (p.Phe1266Ser) c.3800T>C (p.Phe1267Ser) c.3638T>C (p.Phe1213Ser) c.3671T>C (p.Phe1224Ser) | |
3 | g.38566449A>T | CA352149006 | SCN5A | c.3797T>A (p.Phe1266Tyr) c.3800T>A (p.Phe1267Tyr) c.3638T>A (p.Phe1213Tyr) c.3671T>A (p.Phe1224Tyr) | |
3 | g.38566450A>C | CA352149008 | SCN5A | c.3796T>G (p.Phe1266Val) c.3799T>G (p.Phe1267Val) c.3637T>G (p.Phe1213Val) c.3670T>G (p.Phe1224Val) | |
3 | g.38566450A>G | CA352149010 | SCN5A | c.3796T>C (p.Phe1266Leu) c.3799T>C (p.Phe1267Leu) c.3637T>C (p.Phe1213Leu) c.3670T>C (p.Phe1224Leu) | |
3 | g.38566450A>T | CA352149012 | SCN5A | c.3796T>A (p.Phe1266Ile) c.3799T>A (p.Phe1267Ile) c.3637T>A (p.Phe1213Ile) c.3670T>A (p.Phe1224Ile) | |
3 | g.38566451G>A | CA062289 | SCN5A | c.3795C>T (p.Tyr1265=) c.3798C>T (p.Tyr1266=) c.3636C>T (p.Tyr1212=) c.3669C>T (p.Tyr1223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566451G>C | CA352149014 | SCN5A | c.3795C>G (p.Tyr1265Ter) c.3798C>G (p.Tyr1266Ter) c.3636C>G (p.Tyr1212Ter) c.3669C>G (p.Tyr1223Ter) | |
3 | g.38566451G= | CA1358569520 | SCN5A | c.3795C= (p.Tyr1265=) c.3798C= (p.Tyr1266=) c.3636C= (p.Tyr1212=) c.3669C= (p.Tyr1223=) | |
3 | g.38566451G>T | CA352149015 | SCN5A | c.3795C>A (p.Tyr1265Ter) c.3798C>A (p.Tyr1266Ter) c.3636C>A (p.Tyr1212Ter) c.3669C>A (p.Tyr1223Ter) | |
3 | g.38566452T>A | CA352149017 | SCN5A | c.3794A>T (p.Tyr1265Phe) c.3797A>T (p.Tyr1266Phe) c.3635A>T (p.Tyr1212Phe) c.3668A>T (p.Tyr1223Phe) | |
3 | g.38566452T>C | CA352149019 | SCN5A | c.3794A>G (p.Tyr1265Cys) c.3797A>G (p.Tyr1266Cys) c.3635A>G (p.Tyr1212Cys) c.3668A>G (p.Tyr1223Cys) | |
3 | g.38566452T>G | CA352149020 | SCN5A | c.3794A>C (p.Tyr1265Ser) c.3797A>C (p.Tyr1266Ser) c.3635A>C (p.Tyr1212Ser) c.3668A>C (p.Tyr1223Ser) | |
3 | g.38566453A>C | CA352149022 | SCN5A | c.3793T>G (p.Tyr1265Asp) c.3796T>G (p.Tyr1266Asp) c.3634T>G (p.Tyr1212Asp) c.3667T>G (p.Tyr1223Asp) | |
3 | g.38566453A>G | CA352149023 | SCN5A | c.3793T>C (p.Tyr1265His) c.3796T>C (p.Tyr1266His) c.3634T>C (p.Tyr1212His) c.3667T>C (p.Tyr1223His) | |
3 | g.38566453A>T | CA352149024 | SCN5A | c.3793T>A (p.Tyr1265Asn) c.3796T>A (p.Tyr1266Asn) c.3634T>A (p.Tyr1212Asn) c.3667T>A (p.Tyr1223Asn) | |
3 | g.38566454C>A | CA352149026 | SCN5A | c.3792G>T (p.Lys1264Asn) c.3795G>T (p.Lys1265Asn) c.3633G>T (p.Lys1211Asn) c.3666G>T (p.Lys1222Asn) | ClinVar dbSNP gnomAD v4 |
3 | g.38566454C= | CA1358569532 | SCN5A | c.3792G= (p.Lys1264=) c.3795G= (p.Lys1265=) c.3633G= (p.Lys1211=) c.3666G= (p.Lys1222=) | |
3 | g.38566454C>G | CA352149027 | SCN5A | c.3792G>C (p.Lys1264Asn) c.3795G>C (p.Lys1265Asn) c.3633G>C (p.Lys1211Asn) c.3666G>C (p.Lys1222Asn) | |
3 | g.38566454C>T | CA433136735 | SCN5A | c.3792G>A (p.Lys1264=) c.3795G>A (p.Lys1265=) c.3633G>A (p.Lys1211=) c.3666G>A (p.Lys1222=) | ClinVar dbSNP gnomAD v4 |
3 | g.38566455T>A | CA352149029 | SCN5A | c.3791A>T (p.Lys1264Met) c.3794A>T (p.Lys1265Met) c.3632A>T (p.Lys1211Met) c.3665A>T (p.Lys1222Met) | |
3 | g.38566455T>C | CA352149031 | SCN5A | c.3791A>G (p.Lys1264Arg) c.3794A>G (p.Lys1265Arg) c.3632A>G (p.Lys1211Arg) c.3665A>G (p.Lys1222Arg) | |
3 | g.38566455T>G | CA352149032 | SCN5A | c.3791A>C (p.Lys1264Thr) c.3794A>C (p.Lys1265Thr) c.3632A>C (p.Lys1211Thr) c.3665A>C (p.Lys1222Thr) | |
3 | g.38566456T>A | CA352149034 | SCN5A | c.3790A>T (p.Lys1264Ter) c.3793A>T (p.Lys1265Ter) c.3631A>T (p.Lys1211Ter) c.3664A>T (p.Lys1222Ter) | dbSNP |
3 | g.38566456T>C | CA352149035 | SCN5A | c.3790A>G (p.Lys1264Glu) c.3793A>G (p.Lys1265Glu) c.3631A>G (p.Lys1211Glu) c.3664A>G (p.Lys1222Glu) | |
3 | g.38566456T>G | CA352149036 | SCN5A | c.3790A>C (p.Lys1264Gln) c.3793A>C (p.Lys1265Gln) c.3631A>C (p.Lys1211Gln) c.3664A>C (p.Lys1222Gln) | |
3 | g.38566456T= | CA1358569538 | SCN5A | c.3790A= (p.Lys1264=) c.3793A= (p.Lys1265=) c.3631A= (p.Lys1211=) c.3664A= (p.Lys1222=) | |
3 | g.38566457C>A | CA352149037 | SCN5A | c.3789G>T (p.Lys1263Asn) c.3792G>T (p.Lys1264Asn) c.3630G>T (p.Lys1210Asn) c.3663G>T (p.Lys1221Asn) | |
3 | g.38566457C= | CA1358569541 | SCN5A | c.3789G= (p.Lys1263=) c.3792G= (p.Lys1264=) c.3630G= (p.Lys1210=) c.3663G= (p.Lys1221=) | |
3 | g.38566457C>G | CA062282 | SCN5A | c.3789G>C (p.Lys1263Asn) c.3792G>C (p.Lys1264Asn) c.3630G>C (p.Lys1210Asn) c.3663G>C (p.Lys1221Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38566457C>T | CA433136737 | SCN5A | c.3789G>A (p.Lys1263=) c.3792G>A (p.Lys1264=) c.3630G>A (p.Lys1210=) c.3663G>A (p.Lys1221=) | ClinVar gnomAD v4 |
3 | g.38566458T>A | CA352149039 | SCN5A | c.3788A>T (p.Lys1263Met) c.3791A>T (p.Lys1264Met) c.3629A>T (p.Lys1210Met) c.3662A>T (p.Lys1221Met) | |
3 | g.38566458T>C | CA352149041 | SCN5A | c.3788A>G (p.Lys1263Arg) c.3791A>G (p.Lys1264Arg) c.3629A>G (p.Lys1210Arg) c.3662A>G (p.Lys1221Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566458T>G | CA352149042 | SCN5A | c.3788A>C (p.Lys1263Thr) c.3791A>C (p.Lys1264Thr) c.3629A>C (p.Lys1210Thr) c.3662A>C (p.Lys1221Thr) | |
3 | g.38566458T= | CA1358569546 | SCN5A | c.3788A= (p.Lys1263=) c.3791A= (p.Lys1264=) c.3629A= (p.Lys1210=) c.3662A= (p.Lys1221=) | |
3 | g.38566459T>A | CA352149044 | SCN5A | c.3787A>T (p.Lys1263Ter) c.3790A>T (p.Lys1264Ter) c.3628A>T (p.Lys1210Ter) c.3661A>T (p.Lys1221Ter) | dbSNP |
3 | g.38566459T>C | CA352149045 | SCN5A | c.3787A>G (p.Lys1263Glu) c.3790A>G (p.Lys1264Glu) c.3628A>G (p.Lys1210Glu) c.3661A>G (p.Lys1221Glu) | gnomAD v4 |
3 | g.38566459T>G | CA352149047 | SCN5A | c.3787A>C (p.Lys1263Gln) c.3790A>C (p.Lys1264Gln) c.3628A>C (p.Lys1210Gln) c.3661A>C (p.Lys1221Gln) | |
3 | g.38566459T= | CA1358569550 | SCN5A | c.3787A= (p.Lys1263=) c.3790A= (p.Lys1264=) c.3628A= (p.Lys1210=) c.3661A= (p.Lys1221=) | |
3 | g.38566460G>A | CA433136742 | SCN5A | c.3786C>T (p.Phe1262=) c.3789C>T (p.Phe1263=) c.3627C>T (p.Phe1209=) c.3660C>T (p.Phe1220=) | |
3 | g.38566460G>C | CA352149049 | SCN5A | c.3786C>G (p.Phe1262Leu) c.3789C>G (p.Phe1263Leu) c.3627C>G (p.Phe1209Leu) c.3660C>G (p.Phe1220Leu) | |
3 | g.38566460G>T | CA352149051 | SCN5A | c.3786C>A (p.Phe1262Leu) c.3789C>A (p.Phe1263Leu) c.3627C>A (p.Phe1209Leu) c.3660C>A (p.Phe1220Leu) | |
3 | g.38566461A= | CA1358569553 | SCN5A | c.3785T= (p.Phe1262=) c.3788T= (p.Phe1263=) c.3626T= (p.Phe1209=) c.3659T= (p.Phe1220=) | |
3 | g.38566461A>C | CA352149054 | SCN5A | c.3785T>G (p.Phe1262Cys) c.3788T>G (p.Phe1263Cys) c.3626T>G (p.Phe1209Cys) c.3659T>G (p.Phe1220Cys) | |
3 | g.38566461A>G | CA352149055 | SCN5A | c.3785T>C (p.Phe1262Ser) c.3788T>C (p.Phe1263Ser) c.3626T>C (p.Phe1209Ser) c.3659T>C (p.Phe1220Ser) | dbSNP |
3 | g.38566461A>T | CA352149057 | SCN5A | c.3785T>A (p.Phe1262Tyr) c.3788T>A (p.Phe1263Tyr) c.3626T>A (p.Phe1209Tyr) c.3659T>A (p.Phe1220Tyr) | |
3 | g.38566462A>C | CA352149058 | SCN5A | c.3784T>G (p.Phe1262Val) c.3787T>G (p.Phe1263Val) c.3625T>G (p.Phe1209Val) c.3658T>G (p.Phe1220Val) | |
3 | g.38566462A>G | CA352149059 | SCN5A | c.3784T>C (p.Phe1262Leu) c.3787T>C (p.Phe1263Leu) c.3625T>C (p.Phe1209Leu) c.3658T>C (p.Phe1220Leu) | |
3 | g.38566462A>T | CA352149061 | SCN5A | c.3784T>A (p.Phe1262Ile) c.3787T>A (p.Phe1263Ile) c.3625T>A (p.Phe1209Ile) c.3658T>A (p.Phe1220Ile) | |
3 | g.38566463G>A | CA433136744 | SCN5A | c.3783C>T (p.Gly1261=) c.3786C>T (p.Gly1262=) c.3624C>T (p.Gly1208=) c.3657C>T (p.Gly1219=) | COSMIC COSMIC COSMIC |
3 | g.38566463G>C | CA433136747 | SCN5A | c.3783C>G (p.Gly1261=) c.3786C>G (p.Gly1262=) c.3624C>G (p.Gly1208=) c.3657C>G (p.Gly1219=) | |
3 | g.38566463G>T | CA433136746 | SCN5A | c.3783C>A (p.Gly1261=) c.3786C>A (p.Gly1262=) c.3624C>A (p.Gly1208=) c.3657C>A (p.Gly1219=) | |
3 | g.38566464C>A | CA352149063 | SCN5A | c.3782G>T (p.Gly1261Val) c.3785G>T (p.Gly1262Val) c.3623G>T (p.Gly1208Val) c.3656G>T (p.Gly1219Val) | |
3 | g.38566464C= | CA1358569556 | SCN5A | c.3782G= (p.Gly1261=) c.3785G= (p.Gly1262=) c.3623G= (p.Gly1208=) c.3656G= (p.Gly1219=) | |
3 | g.38566464C>G | CA352149065 | SCN5A | c.3782G>C (p.Gly1261Ala) c.3785G>C (p.Gly1262Ala) c.3623G>C (p.Gly1208Ala) c.3656G>C (p.Gly1219Ala) | |
3 | g.38566464C>T | CA352149066 | SCN5A | c.3782G>A (p.Gly1261Asp) c.3785G>A (p.Gly1262Asp) c.3623G>A (p.Gly1208Asp) c.3656G>A (p.Gly1219Asp) | dbSNP |
3 | g.38566465C>A | CA352149068 | SCN5A | c.3781G>T (p.Gly1261Cys) c.3784G>T (p.Gly1262Cys) c.3622G>T (p.Gly1208Cys) c.3655G>T (p.Gly1219Cys) | ClinVar dbSNP |
3 | g.38566465C= | CA1358569561 | SCN5A | c.3781G= (p.Gly1261=) c.3784G= (p.Gly1262=) c.3622G= (p.Gly1208=) c.3655G= (p.Gly1219=) | |
3 | g.38566465C>G | CA352149069 | SCN5A | c.3781G>C (p.Gly1261Arg) c.3784G>C (p.Gly1262Arg) c.3622G>C (p.Gly1208Arg) c.3655G>C (p.Gly1219Arg) | |
3 | g.38566465C>T | CA017513 | SCN5A | c.3781G>A (p.Gly1261Ser) c.3784G>A (p.Gly1262Ser) c.3622G>A (p.Gly1208Ser) c.3655G>A (p.Gly1219Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566466G>A | CA062271 | SCN5A | c.3780C>T (p.Tyr1260=) c.3783C>T (p.Tyr1261=) c.3621C>T (p.Tyr1207=) c.3654C>T (p.Tyr1218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38566466G>C | CA352149074 | SCN5A | c.3780C>G (p.Tyr1260Ter) c.3783C>G (p.Tyr1261Ter) c.3621C>G (p.Tyr1207Ter) c.3654C>G (p.Tyr1218Ter) | |
3 | g.38566466G= | CA1358569564 | SCN5A | c.3780C= (p.Tyr1260=) c.3783C= (p.Tyr1261=) c.3621C= (p.Tyr1207=) c.3654C= (p.Tyr1218=) | |
3 | g.38566466G>T | CA352149072 | SCN5A | c.3780C>A (p.Tyr1260Ter) c.3783C>A (p.Tyr1261Ter) c.3621C>A (p.Tyr1207Ter) c.3654C>A (p.Tyr1218Ter) | |
3 | g.38566467T>A | CA352149076 | SCN5A | c.3779A>T (p.Tyr1260Phe) c.3782A>T (p.Tyr1261Phe) c.3620A>T (p.Tyr1207Phe) c.3653A>T (p.Tyr1218Phe) | |
3 | g.38566467T>C | CA352149079 | SCN5A | c.3779A>G (p.Tyr1260Cys) c.3782A>G (p.Tyr1261Cys) c.3620A>G (p.Tyr1207Cys) c.3653A>G (p.Tyr1218Cys) | gnomAD v4 |
3 | g.38566467T>G | CA352149077 | SCN5A | c.3779A>C (p.Tyr1260Ser) c.3782A>C (p.Tyr1261Ser) c.3620A>C (p.Tyr1207Ser) c.3653A>C (p.Tyr1218Ser) | |
3 | g.38566468A>C | CA352149081 | SCN5A | c.3778T>G (p.Tyr1260Asp) c.3781T>G (p.Tyr1261Asp) c.3619T>G (p.Tyr1207Asp) c.3652T>G (p.Tyr1218Asp) | gnomAD v4 |
3 | g.38566468A>G | CA352149084 | SCN5A | c.3778T>C (p.Tyr1260His) c.3781T>C (p.Tyr1261His) c.3619T>C (p.Tyr1207His) c.3652T>C (p.Tyr1218His) | |
3 | g.38566468A>T | CA352149083 | SCN5A | c.3778T>A (p.Tyr1260Asn) c.3781T>A (p.Tyr1261Asn) c.3619T>A (p.Tyr1207Asn) c.3652T>A (p.Tyr1218Asn) | |
3 | g.38566469G>A | CA433136756 | SCN5A | c.3777C>T (p.Ala1259=) c.3780C>T (p.Ala1260=) c.3618C>T (p.Ala1206=) c.3651C>T (p.Ala1217=) | ClinVar |
3 | g.38566469G>C | CA433136758 | SCN5A | c.3777C>G (p.Ala1259=) c.3780C>G (p.Ala1260=) c.3618C>G (p.Ala1206=) c.3651C>G (p.Ala1217=) | |
3 | g.38566469G>T | CA433136760 | SCN5A | c.3777C>A (p.Ala1259=) c.3780C>A (p.Ala1260=) c.3618C>A (p.Ala1206=) c.3651C>A (p.Ala1217=) | |
3 | g.38566470G>A | CA352149087 | SCN5A | c.3776C>T (p.Ala1259Val) c.3779C>T (p.Ala1260Val) c.3617C>T (p.Ala1206Val) c.3650C>T (p.Ala1217Val) | |
3 | g.38566470G>C | CA352149088 | SCN5A | c.3776C>G (p.Ala1259Gly) c.3779C>G (p.Ala1260Gly) c.3617C>G (p.Ala1206Gly) c.3650C>G (p.Ala1217Gly) | |
3 | g.38566470G= | CA1358569570 | SCN5A | c.3776C= (p.Ala1259=) c.3779C= (p.Ala1260=) c.3617C= (p.Ala1206=) c.3650C= (p.Ala1217=) | |
3 | g.38566470G>T | CA72947520 | SCN5A | c.3776C>A (p.Ala1259Asp) c.3779C>A (p.Ala1260Asp) c.3617C>A (p.Ala1206Asp) c.3650C>A (p.Ala1217Asp) | dbSNP |
3 | g.38566471C>A | CA352149090 | SCN5A | c.3775G>T (p.Ala1259Ser) c.3778G>T (p.Ala1260Ser) c.3616G>T (p.Ala1206Ser) c.3649G>T (p.Ala1217Ser) | ClinVar dbSNP |
3 | g.38566471C>G | CA352149093 | SCN5A | c.3775G>C (p.Ala1259Pro) c.3778G>C (p.Ala1260Pro) c.3616G>C (p.Ala1206Pro) c.3649G>C (p.Ala1217Pro) | |
3 | g.38566471C>T | CA352149092 | SCN5A | c.3775G>A (p.Ala1259Thr) c.3778G>A (p.Ala1260Thr) c.3616G>A (p.Ala1206Thr) c.3649G>A (p.Ala1217Thr) | |
3 | g.38566472C>A | CA433136761 | SCN5A | c.3774G>T (p.Val1258=) c.3777G>T (p.Val1259=) c.3615G>T (p.Val1205=) c.3648G>T (p.Val1216=) | |
3 | g.38566472C>G | CA433136762 | SCN5A | c.3774G>C (p.Val1258=) c.3777G>C (p.Val1259=) c.3615G>C (p.Val1205=) c.3648G>C (p.Val1216=) | |
3 | g.38566472C>T | CA433136763 | SCN5A | c.3774G>A (p.Val1258=) c.3777G>A (p.Val1259=) c.3615G>A (p.Val1205=) c.3648G>A (p.Val1216=) | |
3 | g.38566473A>C | CA352149096 | SCN5A | c.3773T>G (p.Val1258Gly) c.3776T>G (p.Val1259Gly) c.3614T>G (p.Val1205Gly) c.3647T>G (p.Val1216Gly) | |
3 | g.38566473A>G | CA352149099 | SCN5A | c.3773T>C (p.Val1258Ala) c.3776T>C (p.Val1259Ala) c.3614T>C (p.Val1205Ala) c.3647T>C (p.Val1216Ala) | |
3 | g.38566473A>T | CA352149097 | SCN5A | c.3773T>A (p.Val1258Glu) c.3776T>A (p.Val1259Glu) c.3614T>A (p.Val1205Glu) c.3647T>A (p.Val1216Glu) | |
3 | g.38566474C>A | CA352149102 | SCN5A | c.3772G>T (p.Val1258Leu) c.3775G>T (p.Val1259Leu) c.3613G>T (p.Val1205Leu) c.3646G>T (p.Val1216Leu) | |
3 | g.38566474C>G | CA352149103 | SCN5A | c.3772G>C (p.Val1258Leu) c.3775G>C (p.Val1259Leu) c.3613G>C (p.Val1205Leu) c.3646G>C (p.Val1216Leu) | |
3 | g.38566474C>T | CA352149104 | SCN5A | c.3772G>A (p.Val1258Met) c.3775G>A (p.Val1259Met) c.3613G>A (p.Val1205Met) c.3646G>A (p.Val1216Met) | |
3 | g.38566475C>A | CA352149106 | SCN5A | c.3771G>T (p.Trp1257Cys) c.3774G>T (p.Trp1258Cys) c.3612G>T (p.Trp1204Cys) c.3645G>T (p.Trp1215Cys) | COSMIC COSMIC COSMIC |
3 | g.38566475C= | CA1358569574 | SCN5A | c.3771G= (p.Trp1257=) c.3774G= (p.Trp1258=) c.3612G= (p.Trp1204=) c.3645G= (p.Trp1215=) | |
3 | g.38566475C>G | CA352149108 | SCN5A | c.3771G>C (p.Trp1257Cys) c.3774G>C (p.Trp1258Cys) c.3612G>C (p.Trp1204Cys) c.3645G>C (p.Trp1215Cys) | |
3 | g.38566475C>T | CA352149110 | SCN5A | c.3771G>A (p.Trp1257Ter) c.3774G>A (p.Trp1258Ter) c.3612G>A (p.Trp1204Ter) c.3645G>A (p.Trp1215Ter) | dbSNP COSMIC COSMIC COSMIC |
3 | g.38566476C>A | CA352149115 | SCN5A | c.3770G>T (p.Trp1257Leu) c.3773G>T (p.Trp1258Leu) c.3611G>T (p.Trp1204Leu) c.3644G>T (p.Trp1215Leu) | |
3 | g.38566476C>G | CA352149113 | SCN5A | c.3770G>C (p.Trp1257Ser) c.3773G>C (p.Trp1258Ser) c.3611G>C (p.Trp1204Ser) c.3644G>C (p.Trp1215Ser) | gnomAD v4 |
3 | g.38566476C>T | CA352149114 | SCN5A | c.3770G>A (p.Trp1257Ter) c.3773G>A (p.Trp1258Ter) c.3611G>A (p.Trp1204Ter) c.3644G>A (p.Trp1215Ter) | |
3 | g.38566477A>C | CA352149117 | SCN5A | c.3769T>G (p.Trp1257Gly) c.3772T>G (p.Trp1258Gly) c.3610T>G (p.Trp1204Gly) c.3643T>G (p.Trp1215Gly) | |
3 | g.38566477A>G | CA352149119 | SCN5A | c.3769T>C (p.Trp1257Arg) c.3772T>C (p.Trp1258Arg) c.3610T>C (p.Trp1204Arg) c.3643T>C (p.Trp1215Arg) | |
3 | g.38566477A>T | CA352149120 | SCN5A | c.3769T>A (p.Trp1257Arg) c.3772T>A (p.Trp1258Arg) c.3610T>A (p.Trp1204Arg) c.3643T>A (p.Trp1215Arg) | gnomAD v4 |
3 | g.38566478C>A | CA352149123 | SCN5A | c.3768G>T (p.Lys1256Asn) c.3771G>T (p.Lys1257Asn) c.3609G>T (p.Lys1203Asn) c.3642G>T (p.Lys1214Asn) | |
3 | g.38566478C>G | CA352149125 | SCN5A | c.3768G>C (p.Lys1256Asn) c.3771G>C (p.Lys1257Asn) c.3609G>C (p.Lys1203Asn) c.3642G>C (p.Lys1214Asn) | |
3 | g.38566478C>T | CA433136767 | SCN5A | c.3768G>A (p.Lys1256=) c.3771G>A (p.Lys1257=) c.3609G>A (p.Lys1203=) c.3642G>A (p.Lys1214=) | gnomAD v4 |
3 | g.38566479T>A | CA352149128 | SCN5A | c.3767A>T (p.Lys1256Met) c.3770A>T (p.Lys1257Met) c.3608A>T (p.Lys1203Met) c.3641A>T (p.Lys1214Met) | |
3 | g.38566479T>C | CA352149131 | SCN5A | c.3767A>G (p.Lys1256Arg) c.3770A>G (p.Lys1257Arg) c.3608A>G (p.Lys1203Arg) c.3641A>G (p.Lys1214Arg) | |
3 | g.38566479T>G | CA352149129 | SCN5A | c.3767A>C (p.Lys1256Thr) c.3770A>C (p.Lys1257Thr) c.3608A>C (p.Lys1203Thr) c.3641A>C (p.Lys1214Thr) | |
3 | g.38566480T>A | CA352149134 | SCN5A | c.3766A>T (p.Lys1256Ter) c.3769A>T (p.Lys1257Ter) c.3607A>T (p.Lys1203Ter) c.3640A>T (p.Lys1214Ter) | dbSNP |
3 | g.38566480T>C | CA352149135 | SCN5A | c.3766A>G (p.Lys1256Glu) c.3769A>G (p.Lys1257Glu) c.3607A>G (p.Lys1203Glu) c.3640A>G (p.Lys1214Glu) | |
3 | g.38566480T>G | CA352149137 | SCN5A | c.3766A>C (p.Lys1256Gln) c.3769A>C (p.Lys1257Gln) c.3607A>C (p.Lys1203Gln) c.3640A>C (p.Lys1214Gln) | gnomAD v4 |
3 | g.38566480T= | CA1358569578 | SCN5A | c.3766A= (p.Lys1256=) c.3769A= (p.Lys1257=) c.3607A= (p.Lys1203=) c.3640A= (p.Lys1214=) | |
3 | g.38566481G>A | CA433136773 | SCN5A | c.3765C>T (p.Leu1255=) c.3768C>T (p.Leu1256=) c.3606C>T (p.Leu1202=) c.3639C>T (p.Leu1213=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566481G>C | CA433136774 | SCN5A | c.3765C>G (p.Leu1255=) c.3768C>G (p.Leu1256=) c.3606C>G (p.Leu1202=) c.3639C>G (p.Leu1213=) | |
3 | g.38566481G= | CA1358569584 | SCN5A | c.3765C= (p.Leu1255=) c.3768C= (p.Leu1256=) c.3606C= (p.Leu1202=) c.3639C= (p.Leu1213=) | |
3 | g.38566481G>T | CA062265 | SCN5A | c.3765C>A (p.Leu1255=) c.3768C>A (p.Leu1256=) c.3606C>A (p.Leu1202=) c.3639C>A (p.Leu1213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566482A>C | CA352149140 | SCN5A | c.3764T>G (p.Leu1255Arg) c.3767T>G (p.Leu1256Arg) c.3605T>G (p.Leu1202Arg) c.3638T>G (p.Leu1213Arg) | |
3 | g.38566482A>G | CA352149142 | SCN5A | c.3764T>C (p.Leu1255Pro) c.3767T>C (p.Leu1256Pro) c.3605T>C (p.Leu1202Pro) c.3638T>C (p.Leu1213Pro) | gnomAD v4 |
3 | g.38566482A>T | CA352149144 | SCN5A | c.3764T>A (p.Leu1255His) c.3767T>A (p.Leu1256His) c.3605T>A (p.Leu1202His) c.3638T>A (p.Leu1213His) | |
3 | g.38566483G>A | CA352149146 | SCN5A | c.3763C>T (p.Leu1255Phe) c.3766C>T (p.Leu1256Phe) c.3604C>T (p.Leu1202Phe) c.3637C>T (p.Leu1213Phe) | gnomAD v4 |
3 | g.38566483G>C | CA352149148 | SCN5A | c.3763C>G (p.Leu1255Val) c.3766C>G (p.Leu1256Val) c.3604C>G (p.Leu1202Val) c.3637C>G (p.Leu1213Val) | |
3 | g.38566483G>T | CA352149150 | SCN5A | c.3763C>A (p.Leu1255Ile) c.3766C>A (p.Leu1256Ile) c.3604C>A (p.Leu1202Ile) c.3637C>A (p.Leu1213Ile) | |
3 | g.38566484del | CA2499216737 | SCN5A | c.3762del (p.Leu1255SerfsTer24) c.3765del (p.Leu1256SerfsTer24) c.3603del (p.Leu1202SerfsTer24) c.3636del (p.Leu1213SerfsTer24) | ClinVar dbSNP |
3 | g.38566484C>A | CA433136783 | SCN5A | c.3762G>T (p.Leu1254=) c.3765G>T (p.Leu1255=) c.3603G>T (p.Leu1201=) c.3636G>T (p.Leu1212=) | |
3 | g.38566484C= | CA1358569590 | SCN5A | c.3762G= (p.Leu1254=) c.3765G= (p.Leu1255=) c.3603G= (p.Leu1201=) c.3636G= (p.Leu1212=) | |
3 | g.38566484C>G | CA433136782 | SCN5A | c.3762G>C (p.Leu1254=) c.3765G>C (p.Leu1255=) c.3603G>C (p.Leu1201=) c.3636G>C (p.Leu1212=) | |
3 | g.38566484C>T | CA433136779 | SCN5A | c.3762G>A (p.Leu1254=) c.3765G>A (p.Leu1255=) c.3603G>A (p.Leu1201=) c.3636G>A (p.Leu1212=) | dbSNP |
3 | g.38566485A>C | CA352149153 | SCN5A | c.3761T>G (p.Leu1254Arg) c.3764T>G (p.Leu1255Arg) c.3602T>G (p.Leu1201Arg) c.3635T>G (p.Leu1212Arg) | |
3 | g.38566485A>G | CA352149156 | SCN5A | c.3761T>C (p.Leu1254Pro) c.3764T>C (p.Leu1255Pro) c.3602T>C (p.Leu1201Pro) c.3635T>C (p.Leu1212Pro) | gnomAD v4 |
3 | g.38566485A>T | CA352149155 | SCN5A | c.3761T>A (p.Leu1254Gln) c.3764T>A (p.Leu1255Gln) c.3602T>A (p.Leu1201Gln) c.3635T>A (p.Leu1212Gln) | |
3 | g.38566486G>A | CA433136786 | SCN5A | c.3760C>T (p.Leu1254=) c.3763C>T (p.Leu1255=) c.3601C>T (p.Leu1201=) c.3634C>T (p.Leu1212=) | |
3 | g.38566486G>C | CA352149158 | SCN5A | c.3760C>G (p.Leu1254Val) c.3763C>G (p.Leu1255Val) c.3601C>G (p.Leu1201Val) c.3634C>G (p.Leu1212Val) | |
3 | g.38566486G= | CA1358569595 | SCN5A | c.3760C= (p.Leu1254=) c.3763C= (p.Leu1255=) c.3601C= (p.Leu1201=) c.3634C= (p.Leu1212=) | |
3 | g.38566486G>T | CA062259 | SCN5A | c.3760C>A (p.Leu1254Met) c.3763C>A (p.Leu1255Met) c.3601C>A (p.Leu1201Met) c.3634C>A (p.Leu1212Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38566487C>A | CA352149162 | SCN5A | c.3759G>T (p.Met1253Ile) c.3762G>T (p.Met1254Ile) c.3600G>T (p.Met1200Ile) c.3633G>T (p.Met1211Ile) | |
3 | g.38566487C>G | CA352149163 | SCN5A | c.3759G>C (p.Met1253Ile) c.3762G>C (p.Met1254Ile) c.3600G>C (p.Met1200Ile) c.3633G>C (p.Met1211Ile) | |
3 | g.38566487C>T | CA352149164 | SCN5A | c.3759G>A (p.Met1253Ile) c.3762G>A (p.Met1254Ile) c.3600G>A (p.Met1200Ile) c.3633G>A (p.Met1211Ile) | |
3 | g.38566488del | CA2499216738 | SCN5A | c.3758del (p.Met1253SerfsTer26) c.3761del (p.Met1254SerfsTer26) c.3599del (p.Met1200SerfsTer26) c.3632del (p.Met1211SerfsTer26) | ClinVar dbSNP |
3 | g.38566488A= | CA1358569599 | SCN5A | c.3758T= (p.Met1253=) c.3761T= (p.Met1254=) c.3599T= (p.Met1200=) c.3632T= (p.Met1211=) | |
3 | g.38566488A>C | CA352149165 | SCN5A | c.3758T>G (p.Met1253Arg) c.3761T>G (p.Met1254Arg) c.3599T>G (p.Met1200Arg) c.3632T>G (p.Met1211Arg) | |
3 | g.38566488A>G | CA352149166 | SCN5A | c.3758T>C (p.Met1253Thr) c.3761T>C (p.Met1254Thr) c.3599T>C (p.Met1200Thr) c.3632T>C (p.Met1211Thr) | |
3 | g.38566488A>T | CA352149167 | SCN5A | c.3758T>A (p.Met1253Lys) c.3761T>A (p.Met1254Lys) c.3599T>A (p.Met1200Lys) c.3632T>A (p.Met1211Lys) | ClinVar dbSNP |
3 | g.38566489T>A | CA352149168 | SCN5A | c.3757A>T (p.Met1253Leu) c.3760A>T (p.Met1254Leu) c.3598A>T (p.Met1200Leu) c.3631A>T (p.Met1211Leu) | |
3 | g.38566489T>C | CA352149169 | SCN5A | c.3757A>G (p.Met1253Val) c.3760A>G (p.Met1254Val) c.3598A>G (p.Met1200Val) c.3631A>G (p.Met1211Val) | |
3 | g.38566489T>G | CA352149170 | SCN5A | c.3757A>C (p.Met1253Leu) c.3760A>C (p.Met1254Leu) c.3598A>C (p.Met1200Leu) c.3631A>C (p.Met1211Leu) | |
3 | g.38566490C>A | CA352149172 | SCN5A | c.3756G>T (p.Glu1252Asp) c.3759G>T (p.Glu1253Asp) c.3597G>T (p.Glu1199Asp) c.3630G>T (p.Glu1210Asp) | |
3 | g.38566490C>G | CA352149171 | SCN5A | c.3756G>C (p.Glu1252Asp) c.3759G>C (p.Glu1253Asp) c.3597G>C (p.Glu1199Asp) c.3630G>C (p.Glu1210Asp) | |
3 | g.38566490C>T | CA433136794 | SCN5A | c.3756G>A (p.Glu1252=) c.3759G>A (p.Glu1253=) c.3597G>A (p.Glu1199=) c.3630G>A (p.Glu1210=) | |
3 | g.38566491T>A | CA352149173 | SCN5A | c.3755A>T (p.Glu1252Val) c.3758A>T (p.Glu1253Val) c.3596A>T (p.Glu1199Val) c.3629A>T (p.Glu1210Val) | |
3 | g.38566491T>C | CA017500 | SCN5A | c.3755A>G (p.Glu1252Gly) c.3758A>G (p.Glu1253Gly) c.3596A>G (p.Glu1199Gly) c.3629A>G (p.Glu1210Gly) | ClinVar dbSNP |
3 | g.38566491T>G | CA352149174 | SCN5A | c.3755A>C (p.Glu1252Ala) c.3758A>C (p.Glu1253Ala) c.3596A>C (p.Glu1199Ala) c.3629A>C (p.Glu1210Ala) | |
3 | g.38566491T= | CA1358569603 | SCN5A | c.3755A= (p.Glu1252=) c.3758A= (p.Glu1253=) c.3596A= (p.Glu1199=) c.3629A= (p.Glu1210=) | |
3 | g.38566492C>A | CA352149175 | SCN5A | c.3754G>T (p.Glu1252Ter) c.3757G>T (p.Glu1253Ter) c.3595G>T (p.Glu1199Ter) c.3628G>T (p.Glu1210Ter) | dbSNP |
3 | g.38566492C= | CA1358569606 | SCN5A | c.3754G= (p.Glu1252=) c.3757G= (p.Glu1253=) c.3595G= (p.Glu1199=) c.3628G= (p.Glu1210=) | |
3 | g.38566492C>G | CA352149176 | SCN5A | c.3754G>C (p.Glu1252Gln) c.3757G>C (p.Glu1253Gln) c.3595G>C (p.Glu1199Gln) c.3628G>C (p.Glu1210Gln) | |
3 | g.38566492C>T | CA352149177 | SCN5A | c.3754G>A (p.Glu1252Lys) c.3757G>A (p.Glu1253Lys) c.3595G>A (p.Glu1199Lys) c.3628G>A (p.Glu1210Lys) | COSMIC COSMIC COSMIC |
3 | g.38566493dup | CA2839670670 | SCN5A | c.3754dup (p.Glu1252GlyfsTer?) c.3757dup (p.Glu1253GlyfsTer?) c.3595dup (p.Glu1199GlyfsTer?) c.3628dup (p.Glu1210GlyfsTer?) | |
3 | g.38566493C>A | CA433136801 | SCN5A | c.3753G>T (p.Leu1251=) c.3756G>T (p.Leu1252=) c.3594G>T (p.Leu1198=) c.3627G>T (p.Leu1209=) | |
3 | g.38566493C= | CA1358569609 | SCN5A | c.3753G= (p.Leu1251=) c.3756G= (p.Leu1252=) c.3594G= (p.Leu1198=) c.3627G= (p.Leu1209=) | |
3 | g.38566493C>G | CA433136803 | SCN5A | c.3753G>C (p.Leu1251=) c.3756G>C (p.Leu1252=) c.3594G>C (p.Leu1198=) c.3627G>C (p.Leu1209=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566493C>T | CA433136804 | SCN5A | c.3753G>A (p.Leu1251=) c.3756G>A (p.Leu1252=) c.3594G>A (p.Leu1198=) c.3627G>A (p.Leu1209=) | |
3 | g.38566494A>C | CA352149178 | SCN5A | c.3752T>G (p.Leu1251Arg) c.3755T>G (p.Leu1252Arg) c.3593T>G (p.Leu1198Arg) c.3626T>G (p.Leu1209Arg) | |
3 | g.38566494A>G | CA352149179 | SCN5A | c.3752T>C (p.Leu1251Pro) c.3755T>C (p.Leu1252Pro) c.3593T>C (p.Leu1198Pro) c.3626T>C (p.Leu1209Pro) | |
3 | g.38566494A>T | CA352149180 | SCN5A | c.3752T>A (p.Leu1251Gln) c.3755T>A (p.Leu1252Gln) c.3593T>A (p.Leu1198Gln) c.3626T>A (p.Leu1209Gln) | |
3 | g.38566495G>A | CA433136806 | SCN5A | c.3751C>T (p.Leu1251=) c.3754C>T (p.Leu1252=) c.3592C>T (p.Leu1198=) c.3625C>T (p.Leu1209=) | ClinVar dbSNP |
3 | g.38566495G>C | CA352149181 | SCN5A | c.3751C>G (p.Leu1251Val) c.3754C>G (p.Leu1252Val) c.3592C>G (p.Leu1198Val) c.3625C>G (p.Leu1209Val) | |
3 | g.38566495G= | CA1358569617 | SCN5A | c.3751C= (p.Leu1251=) c.3754C= (p.Leu1252=) c.3592C= (p.Leu1198=) c.3625C= (p.Leu1209=) | |
3 | g.38566495G>T | CA352149182 | SCN5A | c.3751C>A (p.Leu1251Met) c.3754C>A (p.Leu1252Met) c.3592C>A (p.Leu1198Met) c.3625C>A (p.Leu1209Met) | |
3 | g.38566496del | CA2665111942 | SCN5A | c.3750del (p.Leu1251TrpfsTer28) c.3753del (p.Leu1252TrpfsTer28) c.3591del (p.Leu1198TrpfsTer28) c.3624del (p.Leu1209TrpfsTer28) | gnomAD v4 |
3 | g.38566496C>A | CA433136809 | SCN5A | c.3750G>T (p.Val1250=) c.3753G>T (p.Val1251=) c.3591G>T (p.Val1197=) c.3624G>T (p.Val1208=) | |
3 | g.38566496C>G | CA433136811 | SCN5A | c.3750G>C (p.Val1250=) c.3753G>C (p.Val1251=) c.3591G>C (p.Val1197=) c.3624G>C (p.Val1208=) | |
3 | g.38566496C>T | CA433136810 | SCN5A | c.3750G>A (p.Val1250=) c.3753G>A (p.Val1251=) c.3591G>A (p.Val1197=) c.3624G>A (p.Val1208=) | |
3 | g.38566497A>C | CA352149184 | SCN5A | c.3749T>G (p.Val1250Gly) c.3752T>G (p.Val1251Gly) c.3590T>G (p.Val1197Gly) c.3623T>G (p.Val1208Gly) | |
3 | g.38566497A>G | CA352149185 | SCN5A | c.3749T>C (p.Val1250Ala) c.3752T>C (p.Val1251Ala) c.3590T>C (p.Val1197Ala) c.3623T>C (p.Val1208Ala) | gnomAD v4 |
3 | g.38566497A>T | CA352149183 | SCN5A | c.3749T>A (p.Val1250Glu) c.3752T>A (p.Val1251Glu) c.3590T>A (p.Val1197Glu) c.3623T>A (p.Val1208Glu) | |
3 | g.38566498C>A | CA352149186 | SCN5A | c.3748G>T (p.Val1250Leu) c.3751G>T (p.Val1251Leu) c.3589G>T (p.Val1197Leu) c.3622G>T (p.Val1208Leu) | gnomAD v4 |
3 | g.38566498C= | CA1358569624 | SCN5A | c.3748G= (p.Val1250=) c.3751G= (p.Val1251=) c.3589G= (p.Val1197=) c.3622G= (p.Val1208=) | |
3 | g.38566498C>G | CA352149187 | SCN5A | c.3748G>C (p.Val1250Leu) c.3751G>C (p.Val1251Leu) c.3589G>C (p.Val1197Leu) c.3622G>C (p.Val1208Leu) | |
3 | g.38566498C>T | CA017494 | SCN5A | c.3748G>A (p.Val1250Met) c.3751G>A (p.Val1251Met) c.3589G>A (p.Val1197Met) c.3622G>A (p.Val1208Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.38566499G>A | CA062251 | SCN5A | c.3747C>T (p.Phe1249=) c.3750C>T (p.Phe1250=) c.3588C>T (p.Phe1196=) c.3621C>T (p.Phe1207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38566499G>C | CA352149188 | SCN5A | c.3747C>G (p.Phe1249Leu) c.3750C>G (p.Phe1250Leu) c.3588C>G (p.Phe1196Leu) c.3621C>G (p.Phe1207Leu) | ClinVar dbSNP |
3 | g.38566499G= | CA1358569633 | SCN5A | c.3747C= (p.Phe1249=) c.3750C= (p.Phe1250=) c.3588C= (p.Phe1196=) c.3621C= (p.Phe1207=) | |
3 | g.38566499G>T | CA352149189 | SCN5A | c.3747C>A (p.Phe1249Leu) c.3750C>A (p.Phe1250Leu) c.3588C>A (p.Phe1196Leu) c.3621C>A (p.Phe1207Leu) | |
3 | g.38566500A>C | CA352149190 | SCN5A | c.3746T>G (p.Phe1249Cys) c.3749T>G (p.Phe1250Cys) c.3587T>G (p.Phe1196Cys) c.3620T>G (p.Phe1207Cys) | |
3 | g.38566500A>G | CA352149191 | SCN5A | c.3746T>C (p.Phe1249Ser) c.3749T>C (p.Phe1250Ser) c.3587T>C (p.Phe1196Ser) c.3620T>C (p.Phe1207Ser) | gnomAD v4 |
3 | g.38566500A>T | CA352149192 | SCN5A | c.3746T>A (p.Phe1249Tyr) c.3749T>A (p.Phe1250Tyr) c.3587T>A (p.Phe1196Tyr) c.3620T>A (p.Phe1207Tyr) | |
3 | g.38566501A= | CA1358569651 | SCN5A | c.3745T= (p.Phe1249=) c.3748T= (p.Phe1250=) c.3586T= (p.Phe1196=) c.3619T= (p.Phe1207=) | |
3 | g.38566501A>C | CA352149193 | SCN5A | c.3745T>G (p.Phe1249Val) c.3748T>G (p.Phe1250Val) c.3586T>G (p.Phe1196Val) c.3619T>G (p.Phe1207Val) | |
3 | g.38566501A>G | CA017490 | SCN5A | c.3745T>C (p.Phe1249Leu) c.3748T>C (p.Phe1250Leu) c.3586T>C (p.Phe1196Leu) c.3619T>C (p.Phe1207Leu) | ClinVar dbSNP |
3 | g.38566501A>T | CA352149194 | SCN5A | c.3745T>A (p.Phe1249Ile) c.3748T>A (p.Phe1250Ile) c.3586T>A (p.Phe1196Ile) c.3619T>A (p.Phe1207Ile) | |
3 | g.38566502G>A | CA433136818 | SCN5A | c.3744C>T (p.Val1248=) c.3747C>T (p.Val1249=) c.3585C>T (p.Val1195=) c.3618C>T (p.Val1206=) | |
3 | g.38566502G>C | CA433136820 | SCN5A | c.3744C>G (p.Val1248=) c.3747C>G (p.Val1249=) c.3585C>G (p.Val1195=) c.3618C>G (p.Val1206=) | |
3 | g.38566502G>T | CA433136821 | SCN5A | c.3744C>A (p.Val1248=) c.3747C>A (p.Val1249=) c.3585C>A (p.Val1195=) c.3618C>A (p.Val1206=) | COSMIC COSMIC COSMIC |
3 | g.38566502_38566503delinsAT | CA2697550807 | SCN5A | c.3743_3744delinsAT (p.Val1248Asp) c.3746_3747delinsAT (p.Val1249Asp) c.3584_3585delinsAT (p.Val1195Asp) c.3617_3618delinsAT (p.Val1206Asp) | ClinVar |
3 | g.38566503A= | CA1358569658 | SCN5A | c.3743T= (p.Val1248=) c.3746T= (p.Val1249=) c.3584T= (p.Val1195=) c.3617T= (p.Val1206=) | |
3 | g.38566503A>C | CA352149196 | SCN5A | c.3743T>G (p.Val1248Gly) c.3746T>G (p.Val1249Gly) c.3584T>G (p.Val1195Gly) c.3617T>G (p.Val1206Gly) | |
3 | g.38566503A>G | CA352149195 | SCN5A | c.3743T>C (p.Val1248Ala) c.3746T>C (p.Val1249Ala) c.3584T>C (p.Val1195Ala) c.3617T>C (p.Val1206Ala) | |
3 | g.38566503A>T | CA017484 | SCN5A | c.3743T>A (p.Val1248Asp) c.3746T>A (p.Val1249Asp) c.3584T>A (p.Val1195Asp) c.3617T>A (p.Val1206Asp) | ClinVar dbSNP |
3 | g.38566504C>A | CA352149197 | SCN5A | c.3742G>T (p.Val1248Phe) c.3745G>T (p.Val1249Phe) c.3583G>T (p.Val1195Phe) c.3616G>T (p.Val1206Phe) | |
3 | g.38566504C>G | CA352149198 | SCN5A | c.3742G>C (p.Val1248Leu) c.3745G>C (p.Val1249Leu) c.3583G>C (p.Val1195Leu) c.3616G>C (p.Val1206Leu) | |
3 | g.38566504C>T | CA352149199 | SCN5A | c.3742G>A (p.Val1248Ile) c.3745G>A (p.Val1249Ile) c.3583G>A (p.Val1195Ile) c.3616G>A (p.Val1206Ile) | |
3 | g.38566505A>C | CA352149200 | SCN5A | c.3741T>G (p.Tyr1247Ter) c.3744T>G (p.Tyr1248Ter) c.3582T>G (p.Tyr1194Ter) c.3615T>G (p.Tyr1205Ter) | |
3 | g.38566505A>G | CA433136824 | SCN5A | c.3741T>C (p.Tyr1247=) c.3744T>C (p.Tyr1248=) c.3582T>C (p.Tyr1194=) c.3615T>C (p.Tyr1205=) | |
3 | g.38566505A>T | CA352149201 | SCN5A | c.3741T>A (p.Tyr1247Ter) c.3744T>A (p.Tyr1248Ter) c.3582T>A (p.Tyr1194Ter) c.3615T>A (p.Tyr1205Ter) | |
3 | g.38566506T>A | CA352149202 | SCN5A | c.3740A>T (p.Tyr1247Phe) c.3743A>T (p.Tyr1248Phe) c.3581A>T (p.Tyr1194Phe) c.3614A>T (p.Tyr1205Phe) | ClinVar |
3 | g.38566506T>C | CA352149203 | SCN5A | c.3740A>G (p.Tyr1247Cys) c.3743A>G (p.Tyr1248Cys) c.3581A>G (p.Tyr1194Cys) c.3614A>G (p.Tyr1205Cys) | |
3 | g.38566506T>G | CA352149204 | SCN5A | c.3740A>C (p.Tyr1247Ser) c.3743A>C (p.Tyr1248Ser) c.3581A>C (p.Tyr1194Ser) c.3614A>C (p.Tyr1205Ser) | |
3 | g.38566507A>C | CA352149205 | SCN5A | c.3739T>G (p.Tyr1247Asp) c.3742T>G (p.Tyr1248Asp) c.3580T>G (p.Tyr1194Asp) c.3613T>G (p.Tyr1205Asp) | |
3 | g.38566507A>G | CA352149206 | SCN5A | c.3739T>C (p.Tyr1247His) c.3742T>C (p.Tyr1248His) c.3580T>C (p.Tyr1194His) c.3613T>C (p.Tyr1205His) | gnomAD v4 |
3 | g.38566507A>T | CA352149207 | SCN5A | c.3739T>A (p.Tyr1247Asn) c.3742T>A (p.Tyr1248Asn) c.3580T>A (p.Tyr1194Asn) c.3613T>A (p.Tyr1205Asn) | |
3 | g.38566508T>A | CA433136829 | SCN5A | c.3738A>T (p.Thr1246=) c.3741A>T (p.Thr1247=) c.3579A>T (p.Thr1193=) c.3612A>T (p.Thr1204=) | |
3 | g.38566508T>C | CA433136830 | SCN5A | c.3738A>G (p.Thr1246=) c.3741A>G (p.Thr1247=) c.3579A>G (p.Thr1193=) c.3612A>G (p.Thr1204=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566508T>G | CA433136831 | SCN5A | c.3738A>C (p.Thr1246=) c.3741A>C (p.Thr1247=) c.3579A>C (p.Thr1193=) c.3612A>C (p.Thr1204=) | dbSNP |
3 | g.38566508T= | CA1358569667 | SCN5A | c.3738A= (p.Thr1246=) c.3741A= (p.Thr1247=) c.3579A= (p.Thr1193=) c.3612A= (p.Thr1204=) | |
3 | g.38566509G>A | CA062239 | SCN5A | c.3737C>T (p.Thr1246Ile) c.3740C>T (p.Thr1247Ile) c.3578C>T (p.Thr1193Ile) c.3611C>T (p.Thr1204Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38566509G>C | CA352149209 | SCN5A | c.3737C>G (p.Thr1246Arg) c.3740C>G (p.Thr1247Arg) c.3578C>G (p.Thr1193Arg) c.3611C>G (p.Thr1204Arg) | |
3 | g.38566509G= | CA1358569670 | SCN5A | c.3737C= (p.Thr1246=) c.3740C= (p.Thr1247=) c.3578C= (p.Thr1193=) c.3611C= (p.Thr1204=) | |
3 | g.38566509G>T | CA352149211 | SCN5A | c.3737C>A (p.Thr1246Lys) c.3740C>A (p.Thr1247Lys) c.3578C>A (p.Thr1193Lys) c.3611C>A (p.Thr1204Lys) | |
3 | g.38566510T>A | CA352149215 | SCN5A | c.3736A>T (p.Thr1246Ser) c.3739A>T (p.Thr1247Ser) c.3577A>T (p.Thr1193Ser) c.3610A>T (p.Thr1204Ser) | |
3 | g.38566510T>C | CA352149217 | SCN5A | c.3736A>G (p.Thr1246Ala) c.3739A>G (p.Thr1247Ala) c.3577A>G (p.Thr1193Ala) c.3610A>G (p.Thr1204Ala) | |
3 | g.38566510T>G | CA352149213 | SCN5A | c.3736A>C (p.Thr1246Pro) c.3739A>C (p.Thr1247Pro) c.3577A>C (p.Thr1193Pro) c.3610A>C (p.Thr1204Pro) | |
3 | g.38566511G>A | CA433136835 | SCN5A | c.3735C>T (p.Phe1245=) c.3738C>T (p.Phe1246=) c.3576C>T (p.Phe1192=) c.3609C>T (p.Phe1203=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566511G>C | CA352149218 | SCN5A | c.3735C>G (p.Phe1245Leu) c.3738C>G (p.Phe1246Leu) c.3576C>G (p.Phe1192Leu) c.3609C>G (p.Phe1203Leu) | |
3 | g.38566511G= | CA1358569672 | SCN5A | c.3735C= (p.Phe1245=) c.3738C= (p.Phe1246=) c.3576C= (p.Phe1192=) c.3609C= (p.Phe1203=) | |
3 | g.38566511G>T | CA352149219 | SCN5A | c.3735C>A (p.Phe1245Leu) c.3738C>A (p.Phe1246Leu) c.3576C>A (p.Phe1192Leu) c.3609C>A (p.Phe1203Leu) | |
3 | g.38566512A>C | CA352149221 | SCN5A | c.3734T>G (p.Phe1245Cys) c.3737T>G (p.Phe1246Cys) c.3575T>G (p.Phe1192Cys) c.3608T>G (p.Phe1203Cys) | |
3 | g.38566512A>G | CA352149223 | SCN5A | c.3734T>C (p.Phe1245Ser) c.3737T>C (p.Phe1246Ser) c.3575T>C (p.Phe1192Ser) c.3608T>C (p.Phe1203Ser) | |
3 | g.38566512A>T | CA352149224 | SCN5A | c.3734T>A (p.Phe1245Tyr) c.3737T>A (p.Phe1246Tyr) c.3575T>A (p.Phe1192Tyr) c.3608T>A (p.Phe1203Tyr) | |
3 | g.38566513A>C | CA352149225 | SCN5A | c.3733T>G (p.Phe1245Val) c.3736T>G (p.Phe1246Val) c.3574T>G (p.Phe1192Val) c.3607T>G (p.Phe1203Val) | |
3 | g.38566513A>G | CA352149226 | SCN5A | c.3733T>C (p.Phe1245Leu) c.3736T>C (p.Phe1246Leu) c.3574T>C (p.Phe1192Leu) c.3607T>C (p.Phe1203Leu) | |
3 | g.38566513A>T | CA352149227 | SCN5A | c.3733T>A (p.Phe1245Ile) c.3736T>A (p.Phe1246Ile) c.3574T>A (p.Phe1192Ile) c.3607T>A (p.Phe1203Ile) | |
3 | g.38566514C>A | CA352149230 | SCN5A | c.3732G>T (p.Met1244Ile) c.3735G>T (p.Met1245Ile) c.3573G>T (p.Met1191Ile) c.3606G>T (p.Met1202Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566514C= | CA1358569675 | SCN5A | c.3732G= (p.Met1244=) c.3735G= (p.Met1245=) c.3573G= (p.Met1191=) c.3606G= (p.Met1202=) | |
3 | g.38566514C>G | CA352149231 | SCN5A | c.3732G>C (p.Met1244Ile) c.3735G>C (p.Met1245Ile) c.3573G>C (p.Met1191Ile) c.3606G>C (p.Met1202Ile) | |
3 | g.38566514C>T | CA062231 | SCN5A | c.3732G>A (p.Met1244Ile) c.3735G>A (p.Met1245Ile) c.3573G>A (p.Met1191Ile) c.3606G>A (p.Met1202Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566515A= | CA1358569679 | SCN5A | c.3731T= (p.Met1244=) c.3734T= (p.Met1245=) c.3572T= (p.Met1191=) c.3605T= (p.Met1202=) | |
3 | g.38566515A>C | CA352149238 | SCN5A | c.3731T>G (p.Met1244Arg) c.3734T>G (p.Met1245Arg) c.3572T>G (p.Met1191Arg) c.3605T>G (p.Met1202Arg) | ClinVar dbSNP |
3 | g.38566515A>G | CA352149237 | SCN5A | c.3731T>C (p.Met1244Thr) c.3734T>C (p.Met1245Thr) c.3572T>C (p.Met1191Thr) c.3605T>C (p.Met1202Thr) | |
3 | g.38566515A>T | CA352149235 | SCN5A | c.3731T>A (p.Met1244Lys) c.3734T>A (p.Met1245Lys) c.3572T>A (p.Met1191Lys) c.3605T>A (p.Met1202Lys) | |
3 | g.38566516T>A | CA352149241 | SCN5A | c.3730A>T (p.Met1244Leu) c.3733A>T (p.Met1245Leu) c.3571A>T (p.Met1191Leu) c.3604A>T (p.Met1202Leu) | dbSNP gnomAD v4 |
3 | g.38566516T>C | CA352149242 | SCN5A | c.3730A>G (p.Met1244Val) c.3733A>G (p.Met1245Val) c.3571A>G (p.Met1191Val) c.3604A>G (p.Met1202Val) | ClinVar dbSNP |
3 | g.38566516T>G | CA352149245 | SCN5A | c.3730A>C (p.Met1244Leu) c.3733A>C (p.Met1245Leu) c.3571A>C (p.Met1191Leu) c.3604A>C (p.Met1202Leu) | |
3 | g.38566516T= | CA1358569684 | SCN5A | c.3730A= (p.Met1244=) c.3733A= (p.Met1245=) c.3571A= (p.Met1191=) c.3604A= (p.Met1202=) | |
3 | g.38566517C>A | CA352149247 | SCN5A | c.3729G>T (p.Lys1243Asn) c.3732G>T (p.Lys1244Asn) c.3570G>T (p.Lys1190Asn) c.3603G>T (p.Lys1201Asn) | |
3 | g.38566517C>G | CA352149249 | SCN5A | c.3729G>C (p.Lys1243Asn) c.3732G>C (p.Lys1244Asn) c.3570G>C (p.Lys1190Asn) c.3603G>C (p.Lys1201Asn) | |
3 | g.38566517C>T | CA433136850 | SCN5A | c.3729G>A (p.Lys1243=) c.3732G>A (p.Lys1244=) c.3570G>A (p.Lys1190=) c.3603G>A (p.Lys1201=) | |
3 | g.38566518T>A | CA352149252 | SCN5A | c.3728A>T (p.Lys1243Met) c.3731A>T (p.Lys1244Met) c.3569A>T (p.Lys1190Met) c.3602A>T (p.Lys1201Met) | |
3 | g.38566518T>C | CA352149253 | SCN5A | c.3728A>G (p.Lys1243Arg) c.3731A>G (p.Lys1244Arg) c.3569A>G (p.Lys1190Arg) c.3602A>G (p.Lys1201Arg) | |
3 | g.38566518T>G | CA352149254 | SCN5A | c.3728A>C (p.Lys1243Thr) c.3731A>C (p.Lys1244Thr) c.3569A>C (p.Lys1190Thr) c.3602A>C (p.Lys1201Thr) | ClinVar dbSNP |
3 | g.38566518T= | CA1358569686 | SCN5A | c.3728A= (p.Lys1243=) c.3731A= (p.Lys1244=) c.3569A= (p.Lys1190=) c.3602A= (p.Lys1201=) | |
3 | g.38566519T>A | CA352149255 | SCN5A | c.3727A>T (p.Lys1243Ter) c.3730A>T (p.Lys1244Ter) c.3568A>T (p.Lys1190Ter) c.3601A>T (p.Lys1201Ter) | |
3 | g.38566519T>C | CA352149257 | SCN5A | c.3727A>G (p.Lys1243Glu) c.3730A>G (p.Lys1244Glu) c.3568A>G (p.Lys1190Glu) c.3601A>G (p.Lys1201Glu) | dbSNP gnomAD v4 |
3 | g.38566519T>G | CA352149258 | SCN5A | c.3727A>C (p.Lys1243Gln) c.3730A>C (p.Lys1244Gln) c.3568A>C (p.Lys1190Gln) c.3601A>C (p.Lys1201Gln) | |
3 | g.38566519T= | CA1358569690 | SCN5A | c.3727A= (p.Lys1243=) c.3730A= (p.Lys1244=) c.3568A= (p.Lys1190=) c.3601A= (p.Lys1201=) | |
3 | g.38566520G>A | CA433136856 | SCN5A | c.3726C>T (p.Asp1242=) c.3729C>T (p.Asp1243=) c.3567C>T (p.Asp1189=) c.3600C>T (p.Asp1200=) | |
3 | g.38566520G>C | CA352149260 | SCN5A | c.3726C>G (p.Asp1242Glu) c.3729C>G (p.Asp1243Glu) c.3567C>G (p.Asp1189Glu) c.3600C>G (p.Asp1200Glu) | ClinVar dbSNP gnomAD v4 |
3 | g.38566520G= | CA1358569693 | SCN5A | c.3726C= (p.Asp1242=) c.3729C= (p.Asp1243=) c.3567C= (p.Asp1189=) c.3600C= (p.Asp1200=) | |
3 | g.38566520G>T | CA352149262 | SCN5A | c.3726C>A (p.Asp1242Glu) c.3729C>A (p.Asp1243Glu) c.3567C>A (p.Asp1189Glu) c.3600C>A (p.Asp1200Glu) | |
3 | g.38566521_38566523del | CA2580069777 | SCN5A | c.3724_3726del (p.Asp1242del) c.3727_3729del (p.Asp1243del) c.3565_3567del (p.Asp1189del) c.3598_3600del (p.Asp1200del) | ClinVar |
3 | g.38566521T>A | CA352149266 | SCN5A | c.3725A>T (p.Asp1242Val) c.3728A>T (p.Asp1243Val) c.3566A>T (p.Asp1189Val) c.3599A>T (p.Asp1200Val) | ClinVar |
3 | g.38566521T>C | CA352149268 | SCN5A | c.3725A>G (p.Asp1242Gly) c.3728A>G (p.Asp1243Gly) c.3566A>G (p.Asp1189Gly) c.3599A>G (p.Asp1200Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.38566521T>G | CA352149264 | SCN5A | c.3725A>C (p.Asp1242Ala) c.3728A>C (p.Asp1243Ala) c.3566A>C (p.Asp1189Ala) c.3599A>C (p.Asp1200Ala) | |
3 | g.38566521T= | CA1358569698 | SCN5A | c.3725A= (p.Asp1242=) c.3728A= (p.Asp1243=) c.3566A= (p.Asp1189=) c.3599A= (p.Asp1200=) | |
3 | g.38566522C>A | CA352149270 | SCN5A | c.3724G>T (p.Asp1242Tyr) c.3727G>T (p.Asp1243Tyr) c.3565G>T (p.Asp1189Tyr) c.3598G>T (p.Asp1200Tyr) | ClinVar |
3 | g.38566522C= | CA1358569704 | SCN5A | c.3724G= (p.Asp1242=) c.3727G= (p.Asp1243=) c.3565G= (p.Asp1189=) c.3598G= (p.Asp1200=) | |
3 | g.38566522C>G | CA352149272 | SCN5A | c.3724G>C (p.Asp1242His) c.3727G>C (p.Asp1243His) c.3565G>C (p.Asp1189His) c.3598G>C (p.Asp1200His) | |
3 | g.38566522C>T | CA017472 | SCN5A | c.3724G>A (p.Asp1242Asn) c.3727G>A (p.Asp1243Asn) c.3565G>A (p.Asp1189Asn) c.3598G>A (p.Asp1200Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566523G>A | CA062223 | SCN5A | c.3723C>T (p.Ala1241=) c.3726C>T (p.Ala1242=) c.3564C>T (p.Ala1188=) c.3597C>T (p.Ala1199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566523G>C | CA433136863 | SCN5A | c.3723C>G (p.Ala1241=) c.3726C>G (p.Ala1242=) c.3564C>G (p.Ala1188=) c.3597C>G (p.Ala1199=) | ClinVar |
3 | g.38566523G= | CA1358569709 | SCN5A | c.3723C= (p.Ala1241=) c.3726C= (p.Ala1242=) c.3564C= (p.Ala1188=) c.3597C= (p.Ala1199=) | |
3 | g.38566523G>T | CA433136865 | SCN5A | c.3723C>A (p.Ala1241=) c.3726C>A (p.Ala1242=) c.3564C>A (p.Ala1188=) c.3597C>A (p.Ala1199=) | |
3 | g.38566524G>A | CA352149277 | SCN5A | c.3722C>T (p.Ala1241Val) c.3725C>T (p.Ala1242Val) c.3563C>T (p.Ala1188Val) c.3596C>T (p.Ala1199Val) | COSMIC COSMIC COSMIC |
3 | g.38566524G>C | CA352149279 | SCN5A | c.3722C>G (p.Ala1241Gly) c.3725C>G (p.Ala1242Gly) c.3563C>G (p.Ala1188Gly) c.3596C>G (p.Ala1199Gly) | gnomAD v4 |
3 | g.38566524G>T | CA352149280 | SCN5A | c.3722C>A (p.Ala1241Asp) c.3725C>A (p.Ala1242Asp) c.3563C>A (p.Ala1188Asp) c.3596C>A (p.Ala1199Asp) | |
3 | g.38566525C>A | CA352149282 | SCN5A | c.3721G>T (p.Ala1241Ser) c.3724G>T (p.Ala1242Ser) c.3562G>T (p.Ala1188Ser) c.3595G>T (p.Ala1199Ser) | |
3 | g.38566525C>G | CA352149284 | SCN5A | c.3721G>C (p.Ala1241Pro) c.3724G>C (p.Ala1242Pro) c.3562G>C (p.Ala1188Pro) c.3595G>C (p.Ala1199Pro) | |
3 | g.38566525C>T | CA352149285 | SCN5A | c.3721G>A (p.Ala1241Thr) c.3724G>A (p.Ala1242Thr) c.3562G>A (p.Ala1188Thr) c.3595G>A (p.Ala1199Thr) | |
3 | g.38566526A= | CA1358569713 | SCN5A | c.3720T= (p.Tyr1240=) c.3723T= (p.Tyr1241=) c.3561T= (p.Tyr1187=) c.3594T= (p.Tyr1198=) | |
3 | g.38566526A>C | CA352149286 | SCN5A | c.3720T>G (p.Tyr1240Ter) c.3723T>G (p.Tyr1241Ter) c.3561T>G (p.Tyr1187Ter) c.3594T>G (p.Tyr1198Ter) | |
3 | g.38566526A>G | CA433136869 | SCN5A | c.3720T>C (p.Tyr1240=) c.3723T>C (p.Tyr1241=) c.3561T>C (p.Tyr1187=) c.3594T>C (p.Tyr1198=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566526A>T | CA352149287 | SCN5A | c.3720T>A (p.Tyr1240Ter) c.3723T>A (p.Tyr1241Ter) c.3561T>A (p.Tyr1187Ter) c.3594T>A (p.Tyr1198Ter) | |
3 | g.38566527T>A | CA352149292 | SCN5A | c.3719A>T (p.Tyr1240Phe) c.3722A>T (p.Tyr1241Phe) c.3560A>T (p.Tyr1187Phe) c.3593A>T (p.Tyr1198Phe) | |
3 | g.38566527T>C | CA352149290 | SCN5A | c.3719A>G (p.Tyr1240Cys) c.3722A>G (p.Tyr1241Cys) c.3560A>G (p.Tyr1187Cys) c.3593A>G (p.Tyr1198Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.38566527T>G | CA017466 | SCN5A | c.3719A>C (p.Tyr1240Ser) c.3722A>C (p.Tyr1241Ser) c.3560A>C (p.Tyr1187Ser) c.3593A>C (p.Tyr1198Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.38566527T= | CA1358569716 | SCN5A | c.3719A= (p.Tyr1240=) c.3722A= (p.Tyr1241=) c.3560A= (p.Tyr1187=) c.3593A= (p.Tyr1198=) | |
3 | g.38566528A>C | CA352149294 | SCN5A | c.3718T>G (p.Tyr1240Asp) c.3721T>G (p.Tyr1241Asp) c.3559T>G (p.Tyr1187Asp) c.3592T>G (p.Tyr1198Asp) | |
3 | g.38566528A>G | CA352149296 | SCN5A | c.3718T>C (p.Tyr1240His) c.3721T>C (p.Tyr1241His) c.3559T>C (p.Tyr1187His) c.3592T>C (p.Tyr1198His) | |
3 | g.38566528A>T | CA352149298 | SCN5A | c.3718T>A (p.Tyr1240Asn) c.3721T>A (p.Tyr1241Asn) c.3559T>A (p.Tyr1187Asn) c.3592T>A (p.Tyr1198Asn) | COSMIC |
3 | g.38566529C>A | CA352149300 | SCN5A | c.3717G>T (p.Glu1239Asp) c.3720G>T (p.Glu1240Asp) c.3558G>T (p.Glu1186Asp) c.3591G>T (p.Glu1197Asp) | |
3 | g.38566529C>G | CA352149301 | SCN5A | c.3717G>C (p.Glu1239Asp) c.3720G>C (p.Glu1240Asp) c.3558G>C (p.Glu1186Asp) c.3591G>C (p.Glu1197Asp) | |
3 | g.38566529C>T | CA433136878 | SCN5A | c.3717G>A (p.Glu1239=) c.3720G>A (p.Glu1240=) c.3558G>A (p.Glu1186=) c.3591G>A (p.Glu1197=) | |
3 | g.38566530T>A | CA352149304 | SCN5A | c.3716A>T (p.Glu1239Val) c.3719A>T (p.Glu1240Val) c.3557A>T (p.Glu1186Val) c.3590A>T (p.Glu1197Val) | |
3 | g.38566530T>C | CA352149306 | SCN5A | c.3716A>G (p.Glu1239Gly) c.3719A>G (p.Glu1240Gly) c.3557A>G (p.Glu1186Gly) c.3590A>G (p.Glu1197Gly) | |
3 | g.38566530T>G | CA352149308 | SCN5A | c.3716A>C (p.Glu1239Ala) c.3719A>C (p.Glu1240Ala) c.3557A>C (p.Glu1186Ala) c.3590A>C (p.Glu1197Ala) | dbSNP |
3 | g.38566530T= | CA1358569721 | SCN5A | c.3716A= (p.Glu1239=) c.3719A= (p.Glu1240=) c.3557A= (p.Glu1186=) c.3590A= (p.Glu1197=) |