| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38566422A>C | CA352148883 | SCN5A | c.3824T>G (p.Phe1275Cys) c.3827T>G (p.Phe1276Cys) c.3665T>G (p.Phe1222Cys) c.3698T>G (p.Phe1233Cys) | |
| 3 | g.38566422A>G | CA352148884 | SCN5A | c.3824T>C (p.Phe1275Ser) c.3827T>C (p.Phe1276Ser) c.3665T>C (p.Phe1222Ser) c.3698T>C (p.Phe1233Ser) | |
| 3 | g.38566422A>T | CA352148886 | SCN5A | c.3824T>A (p.Phe1275Tyr) c.3827T>A (p.Phe1276Tyr) c.3665T>A (p.Phe1222Tyr) c.3698T>A (p.Phe1233Tyr) | |
| 3 | g.38566423A>C | CA352148887 | SCN5A | c.3823T>G (p.Phe1275Val) c.3826T>G (p.Phe1276Val) c.3664T>G (p.Phe1222Val) c.3697T>G (p.Phe1233Val) | |
| 3 | g.38566423A>G | CA352148889 | SCN5A | c.3823T>C (p.Phe1275Leu) c.3826T>C (p.Phe1276Leu) c.3664T>C (p.Phe1222Leu) c.3697T>C (p.Phe1233Leu) | |
| 3 | g.38566423A>T | CA352148891 | SCN5A | c.3823T>A (p.Phe1275Ile) c.3826T>A (p.Phe1276Ile) c.3664T>A (p.Phe1222Ile) c.3697T>A (p.Phe1233Ile) | |
| 3 | g.38566424G>A | CA433136694 | SCN5A | c.3822C>T (p.Asp1274=) c.3825C>T (p.Asp1275=) c.3663C>T (p.Asp1221=) c.3696C>T (p.Asp1232=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38566424G>C | CA352148894 | SCN5A | c.3822C>G (p.Asp1274Glu) c.3825C>G (p.Asp1275Glu) c.3663C>G (p.Asp1221Glu) c.3696C>G (p.Asp1232Glu) | |
| 3 | g.38566424G= | CA1358569455 | SCN5A | c.3822C= (p.Asp1274=) c.3825C= (p.Asp1275=) c.3663C= (p.Asp1221=) c.3696C= (p.Asp1232=) | |
| 3 | g.38566424G>T | CA352148895 | SCN5A | c.3822C>A (p.Asp1274Glu) c.3825C>A (p.Asp1275Glu) c.3663C>A (p.Asp1221Glu) c.3696C>A (p.Asp1232Glu) | |
| 3 | g.38566425T>A | CA352148902 | SCN5A | c.3821A>T (p.Asp1274Val) c.3824A>T (p.Asp1275Val) c.3662A>T (p.Asp1221Val) c.3695A>T (p.Asp1232Val) | |
| 3 | g.38566425T>C | CA352148900 | SCN5A | c.3821A>G (p.Asp1274Gly) c.3824A>G (p.Asp1275Gly) c.3662A>G (p.Asp1221Gly) c.3695A>G (p.Asp1232Gly) | ClinVar dbSNP |
| 3 | g.38566425T>G | CA352148898 | SCN5A | c.3821A>C (p.Asp1274Ala) c.3824A>C (p.Asp1275Ala) c.3662A>C (p.Asp1221Ala) c.3695A>C (p.Asp1232Ala) | |
| 3 | g.38566426C>A | CA017536 | SCN5A | c.3820G>T (p.Asp1274Tyr) c.3823G>T (p.Asp1275Tyr) c.3661G>T (p.Asp1221Tyr) c.3694G>T (p.Asp1232Tyr) | ClinVar dbSNP |
| 3 | g.38566426C= | CA1358569462 | SCN5A | c.3820G= (p.Asp1274=) c.3823G= (p.Asp1275=) c.3661G= (p.Asp1221=) c.3694G= (p.Asp1232=) | |
| 3 | g.38566426C>G | CA352148906 | SCN5A | c.3820G>C (p.Asp1274His) c.3823G>C (p.Asp1275His) c.3661G>C (p.Asp1221His) c.3694G>C (p.Asp1232His) | |
| 3 | g.38566426C>T | CA017530 | SCN5A | c.3820G>A (p.Asp1274Asn) c.3823G>A (p.Asp1275Asn) c.3661G>A (p.Asp1221Asn) c.3694G>A (p.Asp1232Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38566427G>A | CA062313 | SCN5A | c.3819C>T (p.Leu1273=) c.3822C>T (p.Leu1274=) c.3660C>T (p.Leu1220=) c.3693C>T (p.Leu1231=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38566427G>C | CA433136696 | SCN5A | c.3819C>G (p.Leu1273=) c.3822C>G (p.Leu1274=) c.3660C>G (p.Leu1220=) c.3693C>G (p.Leu1231=) | |
| 3 | g.38566427G= | CA1358569466 | SCN5A | c.3819C= (p.Leu1273=) c.3822C= (p.Leu1274=) c.3660C= (p.Leu1220=) c.3693C= (p.Leu1231=) | |
| 3 | g.38566427G>T | CA433136697 | SCN5A | c.3819C>A (p.Leu1273=) c.3822C>A (p.Leu1274=) c.3660C>A (p.Leu1220=) c.3693C>A (p.Leu1231=) | |
| 3 | g.38566428A>C | CA352148909 | SCN5A | c.3818T>G (p.Leu1273Arg) c.3821T>G (p.Leu1274Arg) c.3659T>G (p.Leu1220Arg) c.3692T>G (p.Leu1231Arg) | |
| 3 | g.38566428A>G | CA352148911 | SCN5A | c.3818T>C (p.Leu1273Pro) c.3821T>C (p.Leu1274Pro) c.3659T>C (p.Leu1220Pro) c.3692T>C (p.Leu1231Pro) | |
| 3 | g.38566428A>T | CA352148913 | SCN5A | c.3818T>A (p.Leu1273His) c.3821T>A (p.Leu1274His) c.3659T>A (p.Leu1220His) c.3692T>A (p.Leu1231His) | |
| 3 | g.38566429G>A | CA352148915 | SCN5A | c.3817C>T (p.Leu1273Phe) c.3820C>T (p.Leu1274Phe) c.3658C>T (p.Leu1220Phe) c.3691C>T (p.Leu1231Phe) | ClinVar dbSNP |
| 3 | g.38566429G>C | CA352148916 | SCN5A | c.3817C>G (p.Leu1273Val) c.3820C>G (p.Leu1274Val) c.3658C>G (p.Leu1220Val) c.3691C>G (p.Leu1231Val) | gnomAD v4 |
| 3 | g.38566429G= | CA1358569469 | SCN5A | c.3817C= (p.Leu1273=) c.3820C= (p.Leu1274=) c.3658C= (p.Leu1220=) c.3691C= (p.Leu1231=) | |
| 3 | g.38566429G>T | CA352148917 | SCN5A | c.3817C>A (p.Leu1273Ile) c.3820C>A (p.Leu1274Ile) c.3658C>A (p.Leu1220Ile) c.3691C>A (p.Leu1231Ile) | |
| 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) | |
| 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) |