Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
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=) |