Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38575326_38575329delinsAGAT | CA1358572530 | SCN5A | c.3631_3634delinsATCT (p.Ile1211=) c.3634_3637delinsATCT (p.Ile1212=) c.3472_3475delinsATCT (p.Ile1158=) c.3505_3508delinsATCT (p.Ile1169=) | |
3 | g.38575332_38575334del | CA017359 | SCN5A | c.3631_3633del (p.Ile1211del) c.3634_3636del (p.Ile1212del) c.3472_3474del (p.Ile1158del) c.3505_3507del (p.Ile1169del) | ClinVar dbSNP |
3 | g.38575329T>A | CA352138038 | SCN5A | c.3631A>T (p.Ile1211Phe) c.3634A>T (p.Ile1212Phe) c.3472A>T (p.Ile1158Phe) c.3505A>T (p.Ile1169Phe) | |
3 | g.38575329T>C | CA352138039 | SCN5A | c.3631A>G (p.Ile1211Val) c.3634A>G (p.Ile1212Val) c.3472A>G (p.Ile1158Val) c.3505A>G (p.Ile1169Val) | |
3 | g.38575329T>G | CA352138040 | SCN5A | c.3631A>C (p.Ile1211Leu) c.3634A>C (p.Ile1212Leu) c.3472A>C (p.Ile1158Leu) c.3505A>C (p.Ile1169Leu) | |
3 | g.38575330G>A | CA433134021 | SCN5A | c.3630C>T (p.Ile1210=) c.3633C>T (p.Ile1211=) c.3471C>T (p.Ile1157=) c.3504C>T (p.Ile1168=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575330G>C | CA352138041 | SCN5A | c.3630C>G (p.Ile1210Met) c.3633C>G (p.Ile1211Met) c.3471C>G (p.Ile1157Met) c.3504C>G (p.Ile1168Met) | |
3 | g.38575330G= | CA1358572531 | SCN5A | c.3630C= (p.Ile1210=) c.3633C= (p.Ile1211=) c.3471C= (p.Ile1157=) c.3504C= (p.Ile1168=) | |
3 | g.38575330G>T | CA433134022 | SCN5A | c.3630C>A (p.Ile1210=) c.3633C>A (p.Ile1211=) c.3471C>A (p.Ile1157=) c.3504C>A (p.Ile1168=) | |
3 | g.38575331A>C | CA352138044 | SCN5A | c.3629T>G (p.Ile1210Ser) c.3632T>G (p.Ile1211Ser) c.3470T>G (p.Ile1157Ser) c.3503T>G (p.Ile1168Ser) | |
3 | g.38575331A>G | CA352138042 | SCN5A | c.3629T>C (p.Ile1210Thr) c.3632T>C (p.Ile1211Thr) c.3470T>C (p.Ile1157Thr) c.3503T>C (p.Ile1168Thr) | gnomAD v4 |
3 | g.38575331A>T | CA352138043 | SCN5A | c.3629T>A (p.Ile1210Asn) c.3632T>A (p.Ile1211Asn) c.3470T>A (p.Ile1157Asn) c.3503T>A (p.Ile1168Asn) | gnomAD v4 |
3 | g.38575332T>A | CA352138045 | SCN5A | c.3628A>T (p.Ile1210Phe) c.3631A>T (p.Ile1211Phe) c.3469A>T (p.Ile1157Phe) c.3502A>T (p.Ile1168Phe) | |
3 | g.38575332T>C | CA352138046 | SCN5A | c.3628A>G (p.Ile1210Val) c.3631A>G (p.Ile1211Val) c.3469A>G (p.Ile1157Val) c.3502A>G (p.Ile1168Val) | |
3 | g.38575332T>G | CA352138047 | SCN5A | c.3628A>C (p.Ile1210Leu) c.3631A>C (p.Ile1211Leu) c.3469A>C (p.Ile1157Leu) c.3502A>C (p.Ile1168Leu) | |
3 | g.38575333G>A | CA72923163 | SCN5A | c.3627C>T (p.Phe1209=) c.3630C>T (p.Phe1210=) c.3468C>T (p.Phe1156=) c.3501C>T (p.Phe1167=) | ClinVar dbSNP gnomAD v4 |
3 | g.38575333G>C | CA352138048 | SCN5A | c.3627C>G (p.Phe1209Leu) c.3630C>G (p.Phe1210Leu) c.3468C>G (p.Phe1156Leu) c.3501C>G (p.Phe1167Leu) | gnomAD v4 |
3 | g.38575333G= | CA1358572532 | SCN5A | c.3627C= (p.Phe1209=) c.3630C= (p.Phe1210=) c.3468C= (p.Phe1156=) c.3501C= (p.Phe1167=) | |
3 | g.38575333G>T | CA352138049 | SCN5A | c.3627C>A (p.Phe1209Leu) c.3630C>A (p.Phe1210Leu) c.3468C>A (p.Phe1156Leu) c.3501C>A (p.Phe1167Leu) | |
3 | g.38575334A= | CA1358572533 | SCN5A | c.3626T= (p.Phe1209=) c.3629T= (p.Phe1210=) c.3467T= (p.Phe1156=) c.3500T= (p.Phe1167=) | |
3 | g.38575334A>C | CA352138050 | SCN5A | c.3626T>G (p.Phe1209Cys) c.3629T>G (p.Phe1210Cys) c.3467T>G (p.Phe1156Cys) c.3500T>G (p.Phe1167Cys) | ClinVar |
3 | g.38575334A>G | CA017347 | SCN5A | c.3626T>C (p.Phe1209Ser) c.3629T>C (p.Phe1210Ser) c.3467T>C (p.Phe1156Ser) c.3500T>C (p.Phe1167Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.38575334A>T | CA352138051 | SCN5A | c.3626T>A (p.Phe1209Tyr) c.3629T>A (p.Phe1210Tyr) c.3467T>A (p.Phe1156Tyr) c.3500T>A (p.Phe1167Tyr) | |
3 | g.38575335A= | CA1358572534 | SCN5A | c.3625T= (p.Phe1209=) c.3628T= (p.Phe1210=) c.3466T= (p.Phe1156=) c.3499T= (p.Phe1167=) | |
3 | g.38575335A>C | CA352138052 | SCN5A | c.3625T>G (p.Phe1209Val) c.3628T>G (p.Phe1210Val) c.3466T>G (p.Phe1156Val) c.3499T>G (p.Phe1167Val) | |
3 | g.38575335A>G | CA352138053 | SCN5A | c.3625T>C (p.Phe1209Leu) c.3628T>C (p.Phe1210Leu) c.3466T>C (p.Phe1156Leu) c.3499T>C (p.Phe1167Leu) | dbSNP |
3 | g.38575335A>T | CA352138054 | SCN5A | c.3625T>A (p.Phe1209Ile) c.3628T>A (p.Phe1210Ile) c.3466T>A (p.Phe1156Ile) c.3499T>A (p.Phe1167Ile) | |
3 | g.38575336T>A | CA433134023 | SCN5A | c.3624A>T (p.Thr1208=) c.3627A>T (p.Thr1209=) c.3465A>T (p.Thr1155=) c.3498A>T (p.Thr1166=) | ClinVar dbSNP |
3 | g.38575336T>C | CA433134024 | SCN5A | c.3624A>G (p.Thr1208=) c.3627A>G (p.Thr1209=) c.3465A>G (p.Thr1155=) c.3498A>G (p.Thr1166=) | ClinVar dbSNP gnomAD v4 |
3 | g.38575336T>G | CA433134025 | SCN5A | c.3624A>C (p.Thr1208=) c.3627A>C (p.Thr1209=) c.3465A>C (p.Thr1155=) c.3498A>C (p.Thr1166=) | |
3 | g.38575336T= | CA1358572535 | SCN5A | c.3624A= (p.Thr1208=) c.3627A= (p.Thr1209=) c.3465A= (p.Thr1155=) c.3498A= (p.Thr1166=) | |
3 | g.38575337G>A | CA352138057 | SCN5A | c.3623C>T (p.Thr1208Ile) c.3626C>T (p.Thr1209Ile) c.3464C>T (p.Thr1155Ile) c.3497C>T (p.Thr1166Ile) | dbSNP |
3 | g.38575337G>C | CA352138055 | SCN5A | c.3623C>G (p.Thr1208Arg) c.3626C>G (p.Thr1209Arg) c.3464C>G (p.Thr1155Arg) c.3497C>G (p.Thr1166Arg) | |
3 | g.38575337G= | CA1358572536 | SCN5A | c.3623C= (p.Thr1208=) c.3626C= (p.Thr1209=) c.3464C= (p.Thr1155=) c.3497C= (p.Thr1166=) | |
3 | g.38575337G>T | CA352138056 | SCN5A | c.3623C>A (p.Thr1208Lys) c.3626C>A (p.Thr1209Lys) c.3464C>A (p.Thr1155Lys) c.3497C>A (p.Thr1166Lys) | |
3 | g.38575338T>A | CA352138058 | SCN5A | c.3622A>T (p.Thr1208Ser) c.3625A>T (p.Thr1209Ser) c.3463A>T (p.Thr1155Ser) c.3496A>T (p.Thr1166Ser) | |
3 | g.38575338T>C | CA352138059 | SCN5A | c.3622A>G (p.Thr1208Ala) c.3625A>G (p.Thr1209Ala) c.3463A>G (p.Thr1155Ala) c.3496A>G (p.Thr1166Ala) | gnomAD v4 |
3 | g.38575338T>G | CA352138060 | SCN5A | c.3622A>C (p.Thr1208Pro) c.3625A>C (p.Thr1209Pro) c.3463A>C (p.Thr1155Pro) c.3496A>C (p.Thr1166Pro) | |
3 | g.38575339C>A | CA352138061 | SCN5A | c.3621G>T (p.Glu1207Asp) c.3624G>T (p.Glu1208Asp) c.3462G>T (p.Glu1154Asp) c.3495G>T (p.Glu1165Asp) | |
3 | g.38575339C= | CA1358572537 | SCN5A | c.3621G= (p.Glu1207=) c.3624G= (p.Glu1208=) c.3462G= (p.Glu1154=) c.3495G= (p.Glu1165=) | |
3 | g.38575339C>G | CA352138062 | SCN5A | c.3621G>C (p.Glu1207Asp) c.3624G>C (p.Glu1208Asp) c.3462G>C (p.Glu1154Asp) c.3495G>C (p.Glu1165Asp) | |
3 | g.38575339C>T | CA433134026 | SCN5A | c.3621G>A (p.Glu1207=) c.3624G>A (p.Glu1208=) c.3462G>A (p.Glu1154=) c.3495G>A (p.Glu1165=) | dbSNP |
3 | g.38575340T>A | CA352138063 | SCN5A | c.3620A>T (p.Glu1207Val) c.3623A>T (p.Glu1208Val) c.3461A>T (p.Glu1154Val) c.3494A>T (p.Glu1165Val) | |
3 | g.38575340T>C | CA352138064 | SCN5A | c.3620A>G (p.Glu1207Gly) c.3623A>G (p.Glu1208Gly) c.3461A>G (p.Glu1154Gly) c.3494A>G (p.Glu1165Gly) | COSMIC COSMIC COSMIC |
3 | g.38575340T>G | CA352138065 | SCN5A | c.3620A>C (p.Glu1207Ala) c.3623A>C (p.Glu1208Ala) c.3461A>C (p.Glu1154Ala) c.3494A>C (p.Glu1165Ala) | |
3 | g.38575341C>A | CA10602904 | SCN5A | c.3619G>T (p.Glu1207Ter) c.3622G>T (p.Glu1208Ter) c.3460G>T (p.Glu1154Ter) c.3493G>T (p.Glu1165Ter) | ClinVar dbSNP |
3 | g.38575341C= | CA1358572538 | SCN5A | c.3619G= (p.Glu1207=) c.3622G= (p.Glu1208=) c.3460G= (p.Glu1154=) c.3493G= (p.Glu1165=) | |
3 | g.38575341C>G | CA352138066 | SCN5A | c.3619G>C (p.Glu1207Gln) c.3622G>C (p.Glu1208Gln) c.3460G>C (p.Glu1154Gln) c.3493G>C (p.Glu1165Gln) | |
3 | g.38575341C>T | CA062091 | SCN5A | c.3619G>A (p.Glu1207Lys) c.3622G>A (p.Glu1208Lys) c.3460G>A (p.Glu1154Lys) c.3493G>A (p.Glu1165Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38575342G>A | CA017335 | SCN5A | c.3618C>T (p.Phe1206=) c.3621C>T (p.Phe1207=) c.3459C>T (p.Phe1153=) c.3492C>T (p.Phe1164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575342G>C | CA352138068 | SCN5A | c.3618C>G (p.Phe1206Leu) c.3621C>G (p.Phe1207Leu) c.3459C>G (p.Phe1153Leu) c.3492C>G (p.Phe1164Leu) | |
3 | g.38575342G= | CA1358572539 | SCN5A | c.3618C= (p.Phe1206=) c.3621C= (p.Phe1207=) c.3459C= (p.Phe1153=) c.3492C= (p.Phe1164=) | |
3 | g.38575342G>T | CA352138067 | SCN5A | c.3618C>A (p.Phe1206Leu) c.3621C>A (p.Phe1207Leu) c.3459C>A (p.Phe1153Leu) c.3492C>A (p.Phe1164Leu) | |
3 | g.38575343A>C | CA352138069 | SCN5A | c.3617T>G (p.Phe1206Cys) c.3620T>G (p.Phe1207Cys) c.3458T>G (p.Phe1153Cys) c.3491T>G (p.Phe1164Cys) | |
3 | g.38575343A>G | CA352138071 | SCN5A | c.3617T>C (p.Phe1206Ser) c.3620T>C (p.Phe1207Ser) c.3458T>C (p.Phe1153Ser) c.3491T>C (p.Phe1164Ser) | |
3 | g.38575343A>T | CA352138070 | SCN5A | c.3617T>A (p.Phe1206Tyr) c.3620T>A (p.Phe1207Tyr) c.3458T>A (p.Phe1153Tyr) c.3491T>A (p.Phe1164Tyr) | |
3 | g.38575344A>C | CA352138072 | SCN5A | c.3616T>G (p.Phe1206Val) c.3619T>G (p.Phe1207Val) c.3457T>G (p.Phe1153Val) c.3490T>G (p.Phe1164Val) | |
3 | g.38575344A>G | CA352138074 | SCN5A | c.3616T>C (p.Phe1206Leu) c.3619T>C (p.Phe1207Leu) c.3457T>C (p.Phe1153Leu) c.3490T>C (p.Phe1164Leu) | |
3 | g.38575344A>T | CA352138073 | SCN5A | c.3616T>A (p.Phe1206Ile) c.3619T>A (p.Phe1207Ile) c.3457T>A (p.Phe1153Ile) c.3490T>A (p.Phe1164Ile) | |
3 | g.38575344_38575345insTTCATGGGTCAGACTGGCCCATGGCTCACCAGGCCG | CA2665112174 | SCN5A | c.3615_3616insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA (p.Trp1205_Phe1206insArgProGlyGluProTrpAlaSerLeuThrHisGlu) c.3618_3619insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA (p.Trp1206_Phe1207insArgProGlyGluProTrpAlaSerLeuThrHisGlu) c.3456_3457insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA (p.Trp1152_Phe1153insArgProGlyGluProTrpAlaSerLeuThrHisGlu) c.3489_3490insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA (p.Trp1163_Phe1164insArgProGlyGluProTrpAlaSerLeuThrHisGlu) | gnomAD v4 |
3 | g.38575345C>A | CA017325 | SCN5A | c.3615G>T (p.Trp1205Cys) c.3618G>T (p.Trp1206Cys) c.3456G>T (p.Trp1152Cys) c.3489G>T (p.Trp1163Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38575345C= | CA1358572540 | SCN5A | c.3615G= (p.Trp1205=) c.3618G= (p.Trp1206=) c.3456G= (p.Trp1152=) c.3489G= (p.Trp1163=) | |
3 | g.38575345C>G | CA352138075 | SCN5A | c.3615G>C (p.Trp1205Cys) c.3618G>C (p.Trp1206Cys) c.3456G>C (p.Trp1152Cys) c.3489G>C (p.Trp1163Cys) | |
3 | g.38575345C>T | CA352138076 | SCN5A | c.3615G>A (p.Trp1205Ter) c.3618G>A (p.Trp1206Ter) c.3456G>A (p.Trp1152Ter) c.3489G>A (p.Trp1163Ter) | dbSNP |
3 | g.38575346C>A | CA352138077 | SCN5A | c.3614G>T (p.Trp1205Leu) c.3617G>T (p.Trp1206Leu) c.3455G>T (p.Trp1152Leu) c.3488G>T (p.Trp1163Leu) | |
3 | g.38575346C>G | CA352138078 | SCN5A | c.3614G>C (p.Trp1205Ser) c.3617G>C (p.Trp1206Ser) c.3455G>C (p.Trp1152Ser) c.3488G>C (p.Trp1163Ser) | |
3 | g.38575346C>T | CA352138079 | SCN5A | c.3614G>A (p.Trp1205Ter) c.3617G>A (p.Trp1206Ter) c.3455G>A (p.Trp1152Ter) c.3488G>A (p.Trp1163Ter) | COSMIC COSMIC COSMIC |
3 | g.38575347A= | CA1358572541 | SCN5A | c.3613T= (p.Trp1205=) c.3616T= (p.Trp1206=) c.3454T= (p.Trp1152=) c.3487T= (p.Trp1163=) | |
3 | g.38575347A>C | CA352138082 | SCN5A | c.3613T>G (p.Trp1205Gly) c.3616T>G (p.Trp1206Gly) c.3454T>G (p.Trp1152Gly) c.3487T>G (p.Trp1163Gly) | |
3 | g.38575347A>G | CA352138080 | SCN5A | c.3613T>C (p.Trp1205Arg) c.3616T>C (p.Trp1206Arg) c.3454T>C (p.Trp1152Arg) c.3487T>C (p.Trp1163Arg) | gnomAD v4 |
3 | g.38575347A>T | CA352138081 | SCN5A | c.3613T>A (p.Trp1205Arg) c.3616T>A (p.Trp1206Arg) c.3454T>A (p.Trp1152Arg) c.3487T>A (p.Trp1163Arg) | dbSNP |
3 | g.38575347_38575386delinsAGCTGTGCTCCACGATGTGGTAGCAGGTCTTGCGCAACCG | CA1358572542 | SCN5A | c.3574_3613delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1192=) c.3577_3616delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1193=) c.3415_3454delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1139=) c.3448_3487delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1150=) | |
3 | g.38575348G>A | CA433134027 | SCN5A | c.3612C>T (p.Ser1204=) c.3615C>T (p.Ser1205=) c.3453C>T (p.Ser1151=) c.3486C>T (p.Ser1162=) | gnomAD v4 |
3 | g.38575348G>C | CA352138083 | SCN5A | c.3612C>G (p.Ser1204Arg) c.3615C>G (p.Ser1205Arg) c.3453C>G (p.Ser1151Arg) c.3486C>G (p.Ser1162Arg) | |
3 | g.38575348G>T | CA352138084 | SCN5A | c.3612C>A (p.Ser1204Arg) c.3615C>A (p.Ser1205Arg) c.3453C>A (p.Ser1151Arg) c.3486C>A (p.Ser1162Arg) | |
3 | g.38575348_38575386del | CA1047000738 | SCN5A | c.3574_3612del (p.Arg1192_Ser1204del) c.3577_3615del (p.Arg1193_Ser1205del) c.3415_3453del (p.Arg1139_Ser1151del) c.3448_3486del (p.Arg1150_Ser1162del) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38575349C>A | CA352138085 | SCN5A | c.3611G>T (p.Ser1204Ile) c.3614G>T (p.Ser1205Ile) c.3452G>T (p.Ser1151Ile) c.3485G>T (p.Ser1162Ile) | |
3 | g.38575349C>G | CA352138086 | SCN5A | c.3611G>C (p.Ser1204Thr) c.3614G>C (p.Ser1205Thr) c.3452G>C (p.Ser1151Thr) c.3485G>C (p.Ser1162Thr) | |
3 | g.38575349C>T | CA352138087 | SCN5A | c.3611G>A (p.Ser1204Asn) c.3614G>A (p.Ser1205Asn) c.3452G>A (p.Ser1151Asn) c.3485G>A (p.Ser1162Asn) | |
3 | g.38575350T>A | CA352138088 | SCN5A | c.3610A>T (p.Ser1204Cys) c.3613A>T (p.Ser1205Cys) c.3451A>T (p.Ser1151Cys) c.3484A>T (p.Ser1162Cys) | |
3 | g.38575350T>C | CA352138090 | SCN5A | c.3610A>G (p.Ser1204Gly) c.3613A>G (p.Ser1205Gly) c.3451A>G (p.Ser1151Gly) c.3484A>G (p.Ser1162Gly) | gnomAD v4 |
3 | g.38575350T>G | CA352138089 | SCN5A | c.3610A>C (p.Ser1204Arg) c.3613A>C (p.Ser1205Arg) c.3451A>C (p.Ser1151Arg) c.3484A>C (p.Ser1162Arg) | |
3 | g.38575351G>A | CA062087 | SCN5A | c.3609C>T (p.His1203=) c.3612C>T (p.His1204=) c.3450C>T (p.His1150=) c.3483C>T (p.His1161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38575351G>C | CA352138091 | SCN5A | c.3609C>G (p.His1203Gln) c.3612C>G (p.His1204Gln) c.3450C>G (p.His1150Gln) c.3483C>G (p.His1161Gln) | gnomAD v4 |
3 | g.38575351G= | CA1358572543 | SCN5A | c.3609C= (p.His1203=) c.3612C= (p.His1204=) c.3450C= (p.His1150=) c.3483C= (p.His1161=) | |
3 | g.38575351G>T | CA352138092 | SCN5A | c.3609C>A (p.His1203Gln) c.3612C>A (p.His1204Gln) c.3450C>A (p.His1150Gln) c.3483C>A (p.His1161Gln) | ClinVar dbSNP |
3 | g.38575352T>A | CA352138093 | SCN5A | c.3608A>T (p.His1203Leu) c.3611A>T (p.His1204Leu) c.3449A>T (p.His1150Leu) c.3482A>T (p.His1161Leu) | |
3 | g.38575352T>C | CA352138094 | SCN5A | c.3608A>G (p.His1203Arg) c.3611A>G (p.His1204Arg) c.3449A>G (p.His1150Arg) c.3482A>G (p.His1161Arg) | |
3 | g.38575352T>G | CA352138095 | SCN5A | c.3608A>C (p.His1203Pro) c.3611A>C (p.His1204Pro) c.3449A>C (p.His1150Pro) c.3482A>C (p.His1161Pro) | |
3 | g.38575353G>A | CA352138096 | SCN5A | c.3607C>T (p.His1203Tyr) c.3610C>T (p.His1204Tyr) c.3448C>T (p.His1150Tyr) c.3481C>T (p.His1161Tyr) | |
3 | g.38575353G>C | CA352138097 | SCN5A | c.3607C>G (p.His1203Asp) c.3610C>G (p.His1204Asp) c.3448C>G (p.His1150Asp) c.3481C>G (p.His1161Asp) | |
3 | g.38575353G>T | CA352138098 | SCN5A | c.3607C>A (p.His1203Asn) c.3610C>A (p.His1204Asn) c.3448C>A (p.His1150Asn) c.3481C>A (p.His1161Asn) | |
3 | g.38575354del | CA2665112175 | SCN5A | c.3606del (p.Glu1202AspfsTer12) c.3609del (p.Glu1203AspfsTer12) c.3447del (p.Glu1149AspfsTer12) c.3480del (p.Glu1160AspfsTer12) | gnomAD v4 |
3 | g.38575354C>A | CA352138099 | SCN5A | c.3606G>T (p.Glu1202Asp) c.3609G>T (p.Glu1203Asp) c.3447G>T (p.Glu1149Asp) c.3480G>T (p.Glu1160Asp) | |
3 | g.38575354C= | CA1358572544 | SCN5A | c.3606G= (p.Glu1202=) c.3609G= (p.Glu1203=) c.3447G= (p.Glu1149=) c.3480G= (p.Glu1160=) | |
3 | g.38575354C>G | CA352138100 | SCN5A | c.3606G>C (p.Glu1202Asp) c.3609G>C (p.Glu1203Asp) c.3447G>C (p.Glu1149Asp) c.3480G>C (p.Glu1160Asp) | |
3 | g.38575354C>T | CA433134028 | SCN5A | c.3606G>A (p.Glu1202=) c.3609G>A (p.Glu1203=) c.3447G>A (p.Glu1149=) c.3480G>A (p.Glu1160=) | dbSNP |
3 | g.38575355T>A | CA352138101 | SCN5A | c.3605A>T (p.Glu1202Val) c.3608A>T (p.Glu1203Val) c.3446A>T (p.Glu1149Val) c.3479A>T (p.Glu1160Val) | |
3 | g.38575355T>C | CA352138103 | SCN5A | c.3605A>G (p.Glu1202Gly) c.3608A>G (p.Glu1203Gly) c.3446A>G (p.Glu1149Gly) c.3479A>G (p.Glu1160Gly) | |
3 | g.38575355T>G | CA352138102 | SCN5A | c.3605A>C (p.Glu1202Ala) c.3608A>C (p.Glu1203Ala) c.3446A>C (p.Glu1149Ala) c.3479A>C (p.Glu1160Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.38575356C>A | CA352138104 | SCN5A | c.3604G>T (p.Glu1202Ter) c.3607G>T (p.Glu1203Ter) c.3445G>T (p.Glu1149Ter) c.3478G>T (p.Glu1160Ter) | dbSNP |
3 | g.38575356C= | CA1358572545 | SCN5A | c.3604G= (p.Glu1202=) c.3607G= (p.Glu1203=) c.3445G= (p.Glu1149=) c.3478G= (p.Glu1160=) | |
3 | g.38575356C>G | CA352138105 | SCN5A | c.3604G>C (p.Glu1202Gln) c.3607G>C (p.Glu1203Gln) c.3445G>C (p.Glu1149Gln) c.3478G>C (p.Glu1160Gln) | |
3 | g.38575356C>T | CA352138106 | SCN5A | c.3604G>A (p.Glu1202Lys) c.3607G>A (p.Glu1203Lys) c.3445G>A (p.Glu1149Lys) c.3478G>A (p.Glu1160Lys) | |
3 | g.38575357C>A | CA433134029 | SCN5A | c.3603G>T (p.Val1201=) c.3606G>T (p.Val1202=) c.3444G>T (p.Val1148=) c.3477G>T (p.Val1159=) | dbSNP |
3 | g.38575357C>G | CA433134030 | SCN5A | c.3603G>C (p.Val1201=) c.3606G>C (p.Val1202=) c.3444G>C (p.Val1148=) c.3477G>C (p.Val1159=) | |
3 | g.38575357C>T | CA433134031 | SCN5A | c.3603G>A (p.Val1201=) c.3606G>A (p.Val1202=) c.3444G>A (p.Val1148=) c.3477G>A (p.Val1159=) | ClinVar |
3 | g.38575358A>C | CA352138107 | SCN5A | c.3602T>G (p.Val1201Gly) c.3605T>G (p.Val1202Gly) c.3443T>G (p.Val1148Gly) c.3476T>G (p.Val1159Gly) | |
3 | g.38575358A>G | CA352138108 | SCN5A | c.3602T>C (p.Val1201Ala) c.3605T>C (p.Val1202Ala) c.3443T>C (p.Val1148Ala) c.3476T>C (p.Val1159Ala) | |
3 | g.38575358A>T | CA352138109 | SCN5A | c.3602T>A (p.Val1201Glu) c.3605T>A (p.Val1202Glu) c.3443T>A (p.Val1148Glu) c.3476T>A (p.Val1159Glu) | |
3 | g.38575359C>A | CA352138110 | SCN5A | c.3601G>T (p.Val1201Leu) c.3604G>T (p.Val1202Leu) c.3442G>T (p.Val1148Leu) c.3475G>T (p.Val1159Leu) | |
3 | g.38575359C= | CA1358572546 | SCN5A | c.3601G= (p.Val1201=) c.3604G= (p.Val1202=) c.3442G= (p.Val1148=) c.3475G= (p.Val1159=) | |
3 | g.38575359C>G | CA352138111 | SCN5A | c.3601G>C (p.Val1201Leu) c.3604G>C (p.Val1202Leu) c.3442G>C (p.Val1148Leu) c.3475G>C (p.Val1159Leu) | |
3 | g.38575359C>T | CA72923192 | SCN5A | c.3601G>A (p.Val1201Met) c.3604G>A (p.Val1202Met) c.3442G>A (p.Val1148Met) c.3475G>A (p.Val1159Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575360G>A | CA062081 | SCN5A | c.3600C>T (p.Ile1200=) c.3603C>T (p.Ile1201=) c.3441C>T (p.Ile1147=) c.3474C>T (p.Ile1158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575360G>C | CA062076 | SCN5A | c.3600C>G (p.Ile1200Met) c.3603C>G (p.Ile1201Met) c.3441C>G (p.Ile1147Met) c.3474C>G (p.Ile1158Met) | dbSNP ExAC gnomAD v2 |
3 | g.38575360G= | CA1358572547 | SCN5A | c.3600C= (p.Ile1200=) c.3603C= (p.Ile1201=) c.3441C= (p.Ile1147=) c.3474C= (p.Ile1158=) | |
3 | g.38575360G>T | CA433134032 | SCN5A | c.3600C>A (p.Ile1200=) c.3603C>A (p.Ile1201=) c.3441C>A (p.Ile1147=) c.3474C>A (p.Ile1158=) | |
3 | g.38575360dup | CA2840078011 | SCN5A | c.3600dup (p.Val1201ArgfsTer?) c.3603dup (p.Val1202ArgfsTer?) c.3441dup (p.Val1148ArgfsTer?) c.3474dup (p.Val1159ArgfsTer?) | |
3 | g.38575361A>C | CA352138114 | SCN5A | c.3599T>G (p.Ile1200Ser) c.3602T>G (p.Ile1201Ser) c.3440T>G (p.Ile1147Ser) c.3473T>G (p.Ile1158Ser) | |
3 | g.38575361A>G | CA352138112 | SCN5A | c.3599T>C (p.Ile1200Thr) c.3602T>C (p.Ile1201Thr) c.3440T>C (p.Ile1147Thr) c.3473T>C (p.Ile1158Thr) | |
3 | g.38575361A>T | CA352138113 | SCN5A | c.3599T>A (p.Ile1200Asn) c.3602T>A (p.Ile1201Asn) c.3440T>A (p.Ile1147Asn) c.3473T>A (p.Ile1158Asn) | |
3 | g.38575362T>A | CA352138115 | SCN5A | c.3598A>T (p.Ile1200Phe) c.3601A>T (p.Ile1201Phe) c.3439A>T (p.Ile1147Phe) c.3472A>T (p.Ile1158Phe) | ClinVar dbSNP gnomAD v4 |
3 | g.38575362T>C | CA352138116 | SCN5A | c.3598A>G (p.Ile1200Val) c.3601A>G (p.Ile1201Val) c.3439A>G (p.Ile1147Val) c.3472A>G (p.Ile1158Val) | |
3 | g.38575362T>G | CA352138117 | SCN5A | c.3598A>C (p.Ile1200Leu) c.3601A>C (p.Ile1201Leu) c.3439A>C (p.Ile1147Leu) c.3472A>C (p.Ile1158Leu) | |
3 | g.38575363G>A | CA433134033 | SCN5A | c.3597C>T (p.His1199=) c.3600C>T (p.His1200=) c.3438C>T (p.His1146=) c.3471C>T (p.His1157=) | |
3 | g.38575363G>C | CA352138118 | SCN5A | c.3597C>G (p.His1199Gln) c.3600C>G (p.His1200Gln) c.3438C>G (p.His1146Gln) c.3471C>G (p.His1157Gln) | |
3 | g.38575363G>T | CA352138119 | SCN5A | c.3597C>A (p.His1199Gln) c.3600C>A (p.His1200Gln) c.3438C>A (p.His1146Gln) c.3471C>A (p.His1157Gln) | |
3 | g.38575364T>A | CA352138120 | SCN5A | c.3596A>T (p.His1199Leu) c.3599A>T (p.His1200Leu) c.3437A>T (p.His1146Leu) c.3470A>T (p.His1157Leu) | |
3 | g.38575364T>C | CA352138121 | SCN5A | c.3596A>G (p.His1199Arg) c.3599A>G (p.His1200Arg) c.3437A>G (p.His1146Arg) c.3470A>G (p.His1157Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575364T>G | CA352138122 | SCN5A | c.3596A>C (p.His1199Pro) c.3599A>C (p.His1200Pro) c.3437A>C (p.His1146Pro) c.3470A>C (p.His1157Pro) | |
3 | g.38575364T= | CA1358572548 | SCN5A | c.3596A= (p.His1199=) c.3599A= (p.His1200=) c.3437A= (p.His1146=) c.3470A= (p.His1157=) | |
3 | g.38575365G>A | CA352138123 | SCN5A | c.3595C>T (p.His1199Tyr) c.3598C>T (p.His1200Tyr) c.3436C>T (p.His1146Tyr) c.3469C>T (p.His1157Tyr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575365G>C | CA352138124 | SCN5A | c.3595C>G (p.His1199Asp) c.3598C>G (p.His1200Asp) c.3436C>G (p.His1146Asp) c.3469C>G (p.His1157Asp) | |
3 | g.38575365G= | CA1358572549 | SCN5A | c.3595C= (p.His1199=) c.3598C= (p.His1200=) c.3436C= (p.His1146=) c.3469C= (p.His1157=) | |
3 | g.38575365G>T | CA352138125 | SCN5A | c.3595C>A (p.His1199Asn) c.3598C>A (p.His1200Asn) c.3436C>A (p.His1146Asn) c.3469C>A (p.His1157Asn) | |
3 | g.38575366dup | CA542615675 | SCN5A | c.3595dup (p.His1199ProfsTer?) c.3598dup (p.His1200ProfsTer?) c.3436dup (p.His1146ProfsTer?) c.3469dup (p.His1157ProfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575366G>A | CA433134034 | SCN5A | c.3594C>T (p.Tyr1198=) c.3597C>T (p.Tyr1199=) c.3435C>T (p.Tyr1145=) c.3468C>T (p.Tyr1156=) | |
3 | g.38575366G>C | CA352138127 | SCN5A | c.3594C>G (p.Tyr1198Ter) c.3597C>G (p.Tyr1199Ter) c.3435C>G (p.Tyr1145Ter) c.3468C>G (p.Tyr1156Ter) | |
3 | g.38575366G>T | CA352138126 | SCN5A | c.3594C>A (p.Tyr1198Ter) c.3597C>A (p.Tyr1199Ter) c.3435C>A (p.Tyr1145Ter) c.3468C>A (p.Tyr1156Ter) | |
3 | g.38575367T>A | CA352138128 | SCN5A | c.3593A>T (p.Tyr1198Phe) c.3596A>T (p.Tyr1199Phe) c.3434A>T (p.Tyr1145Phe) c.3467A>T (p.Tyr1156Phe) | |
3 | g.38575367T>C | CA352138129 | SCN5A | c.3593A>G (p.Tyr1198Cys) c.3596A>G (p.Tyr1199Cys) c.3434A>G (p.Tyr1145Cys) c.3467A>G (p.Tyr1156Cys) | gnomAD v4 |
3 | g.38575367T>G | CA017304 | SCN5A | c.3593A>C (p.Tyr1198Ser) c.3596A>C (p.Tyr1199Ser) c.3434A>C (p.Tyr1145Ser) c.3467A>C (p.Tyr1156Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.38575367T= | CA1358572550 | SCN5A | c.3593A= (p.Tyr1198=) c.3596A= (p.Tyr1199=) c.3434A= (p.Tyr1145=) c.3467A= (p.Tyr1156=) | |
3 | g.38575368A>C | CA352138130 | SCN5A | c.3592T>G (p.Tyr1198Asp) c.3595T>G (p.Tyr1199Asp) c.3433T>G (p.Tyr1145Asp) c.3466T>G (p.Tyr1156Asp) | |
3 | g.38575368A>G | CA352138131 | SCN5A | c.3592T>C (p.Tyr1198His) c.3595T>C (p.Tyr1199His) c.3433T>C (p.Tyr1145His) c.3466T>C (p.Tyr1156His) | |
3 | g.38575368A>T | CA352138132 | SCN5A | c.3592T>A (p.Tyr1198Asn) c.3595T>A (p.Tyr1199Asn) c.3433T>A (p.Tyr1145Asn) c.3466T>A (p.Tyr1156Asn) | COSMIC COSMIC COSMIC |
3 | g.38575369G>A | CA433134035 | SCN5A | c.3591C>T (p.Cys1197=) c.3594C>T (p.Cys1198=) c.3432C>T (p.Cys1144=) c.3465C>T (p.Cys1155=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575369G>C | CA352138133 | SCN5A | c.3591C>G (p.Cys1197Trp) c.3594C>G (p.Cys1198Trp) c.3432C>G (p.Cys1144Trp) c.3465C>G (p.Cys1155Trp) | |
3 | g.38575369G= | CA1358572551 | SCN5A | c.3591C= (p.Cys1197=) c.3594C= (p.Cys1198=) c.3432C= (p.Cys1144=) c.3465C= (p.Cys1155=) | |
3 | g.38575369G>T | CA352138134 | SCN5A | c.3591C>A (p.Cys1197Ter) c.3594C>A (p.Cys1198Ter) c.3432C>A (p.Cys1144Ter) c.3465C>A (p.Cys1155Ter) | dbSNP |
3 | g.38575370C>A | CA352138135 | SCN5A | c.3590G>T (p.Cys1197Phe) c.3593G>T (p.Cys1198Phe) c.3431G>T (p.Cys1144Phe) c.3464G>T (p.Cys1155Phe) | |
3 | g.38575370C>G | CA352138136 | SCN5A | c.3590G>C (p.Cys1197Ser) c.3593G>C (p.Cys1198Ser) c.3431G>C (p.Cys1144Ser) c.3464G>C (p.Cys1155Ser) | gnomAD v4 |
3 | g.38575370C>T | CA352138137 | SCN5A | c.3590G>A (p.Cys1197Tyr) c.3593G>A (p.Cys1198Tyr) c.3431G>A (p.Cys1144Tyr) c.3464G>A (p.Cys1155Tyr) | |
3 | g.38575371A>C | CA352138138 | SCN5A | c.3589T>G (p.Cys1197Gly) c.3592T>G (p.Cys1198Gly) c.3430T>G (p.Cys1144Gly) c.3463T>G (p.Cys1155Gly) | |
3 | g.38575371A>G | CA352138139 | SCN5A | c.3589T>C (p.Cys1197Arg) c.3592T>C (p.Cys1198Arg) c.3430T>C (p.Cys1144Arg) c.3463T>C (p.Cys1155Arg) | ClinVar |
3 | g.38575371A>T | CA352138140 | SCN5A | c.3589T>A (p.Cys1197Ser) c.3592T>A (p.Cys1198Ser) c.3430T>A (p.Cys1144Ser) c.3463T>A (p.Cys1155Ser) | |
3 | g.38575372G>A | CA433134036 | SCN5A | c.3588C>T (p.Thr1196=) c.3591C>T (p.Thr1197=) c.3429C>T (p.Thr1143=) c.3462C>T (p.Thr1154=) | |
3 | g.38575372G>C | CA433134037 | SCN5A | c.3588C>G (p.Thr1196=) c.3591C>G (p.Thr1197=) c.3429C>G (p.Thr1143=) c.3462C>G (p.Thr1154=) | ClinVar dbSNP |
3 | g.38575372G= | CA1358572552 | SCN5A | c.3588C= (p.Thr1196=) c.3591C= (p.Thr1197=) c.3429C= (p.Thr1143=) c.3462C= (p.Thr1154=) | |
3 | g.38575372G>T | CA433134038 | SCN5A | c.3588C>A (p.Thr1196=) c.3591C>A (p.Thr1197=) c.3429C>A (p.Thr1143=) c.3462C>A (p.Thr1154=) | dbSNP gnomAD v2 |
3 | g.38575373G>A | CA352138143 | SCN5A | c.3587C>T (p.Thr1196Ile) c.3590C>T (p.Thr1197Ile) c.3428C>T (p.Thr1143Ile) c.3461C>T (p.Thr1154Ile) | gnomAD v4 |
3 | g.38575373G>C | CA352138142 | SCN5A | c.3587C>G (p.Thr1196Ser) c.3590C>G (p.Thr1197Ser) c.3428C>G (p.Thr1143Ser) c.3461C>G (p.Thr1154Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.38575373G= | CA1358572553 | SCN5A | c.3587C= (p.Thr1196=) c.3590C= (p.Thr1197=) c.3428C= (p.Thr1143=) c.3461C= (p.Thr1154=) | |
3 | g.38575373G>T | CA352138141 | SCN5A | c.3587C>A (p.Thr1196Asn) c.3590C>A (p.Thr1197Asn) c.3428C>A (p.Thr1143Asn) c.3461C>A (p.Thr1154Asn) | gnomAD v4 |
3 | g.38575374T>A | CA352138144 | SCN5A | c.3586A>T (p.Thr1196Ser) c.3589A>T (p.Thr1197Ser) c.3427A>T (p.Thr1143Ser) c.3460A>T (p.Thr1154Ser) | |
3 | g.38575374T>C | CA352138145 | SCN5A | c.3586A>G (p.Thr1196Ala) c.3589A>G (p.Thr1197Ala) c.3427A>G (p.Thr1143Ala) c.3460A>G (p.Thr1154Ala) | |
3 | g.38575374T>G | CA352138146 | SCN5A | c.3586A>C (p.Thr1196Pro) c.3589A>C (p.Thr1197Pro) c.3427A>C (p.Thr1143Pro) c.3460A>C (p.Thr1154Pro) | dbSNP |
3 | g.38575374T= | CA1358572554 | SCN5A | c.3586A= (p.Thr1196=) c.3589A= (p.Thr1197=) c.3427A= (p.Thr1143=) c.3460A= (p.Thr1154=) | |
3 | g.38575375C>A | CA352138147 | SCN5A | c.3585G>T (p.Lys1195Asn) c.3588G>T (p.Lys1196Asn) c.3426G>T (p.Lys1142Asn) c.3459G>T (p.Lys1153Asn) | gnomAD v4 |
3 | g.38575375C>G | CA352138148 | SCN5A | c.3585G>C (p.Lys1195Asn) c.3588G>C (p.Lys1196Asn) c.3426G>C (p.Lys1142Asn) c.3459G>C (p.Lys1153Asn) | gnomAD v4 |
3 | g.38575375C>T | CA433134039 | SCN5A | c.3585G>A (p.Lys1195=) c.3588G>A (p.Lys1196=) c.3426G>A (p.Lys1142=) c.3459G>A (p.Lys1153=) | gnomAD v4 |
3 | g.38575376T>A | CA352138149 | SCN5A | c.3584A>T (p.Lys1195Met) c.3587A>T (p.Lys1196Met) c.3425A>T (p.Lys1142Met) c.3458A>T (p.Lys1153Met) | |
3 | g.38575376T>C | CA352138150 | SCN5A | c.3584A>G (p.Lys1195Arg) c.3587A>G (p.Lys1196Arg) c.3425A>G (p.Lys1142Arg) c.3458A>G (p.Lys1153Arg) | |
3 | g.38575376T>G | CA352138151 | SCN5A | c.3584A>C (p.Lys1195Thr) c.3587A>C (p.Lys1196Thr) c.3425A>C (p.Lys1142Thr) c.3458A>C (p.Lys1153Thr) | |
3 | g.38575377del | CA2580069786 | SCN5A | c.3584del (p.Lys1195ArgfsTer19) c.3587del (p.Lys1196ArgfsTer19) c.3425del (p.Lys1142ArgfsTer19) c.3458del (p.Lys1153ArgfsTer19) | ClinVar |
3 | g.38575377T>A | CA352138152 | SCN5A | c.3583A>T (p.Lys1195Ter) c.3586A>T (p.Lys1196Ter) c.3424A>T (p.Lys1142Ter) c.3457A>T (p.Lys1153Ter) | dbSNP |
3 | g.38575377T>C | CA352138153 | SCN5A | c.3583A>G (p.Lys1195Glu) c.3586A>G (p.Lys1196Glu) c.3424A>G (p.Lys1142Glu) c.3457A>G (p.Lys1153Glu) | gnomAD v4 |
3 | g.38575377T>G | CA352138154 | SCN5A | c.3583A>C (p.Lys1195Gln) c.3586A>C (p.Lys1196Gln) c.3424A>C (p.Lys1142Gln) c.3457A>C (p.Lys1153Gln) | |
3 | g.38575377T= | CA1358572555 | SCN5A | c.3583A= (p.Lys1195=) c.3586A= (p.Lys1196=) c.3424A= (p.Lys1142=) c.3457A= (p.Lys1153=) | |
3 | g.38575378G>A | CA433134040 | SCN5A | c.3582C>T (p.Arg1194=) c.3585C>T (p.Arg1195=) c.3423C>T (p.Arg1141=) c.3456C>T (p.Arg1152=) | |
3 | g.38575378G>C | CA433134041 | SCN5A | c.3582C>G (p.Arg1194=) c.3585C>G (p.Arg1195=) c.3423C>G (p.Arg1141=) c.3456C>G (p.Arg1152=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575378G= | CA1358572556 | SCN5A | c.3582C= (p.Arg1194=) c.3585C= (p.Arg1195=) c.3423C= (p.Arg1141=) c.3456C= (p.Arg1152=) | |
3 | g.38575378G>T | CA433134042 | SCN5A | c.3582C>A (p.Arg1194=) c.3585C>A (p.Arg1195=) c.3423C>A (p.Arg1141=) c.3456C>A (p.Arg1152=) | gnomAD v4 |
3 | g.38575379C>A | CA352138156 | SCN5A | c.3581G>T (p.Arg1194Leu) c.3584G>T (p.Arg1195Leu) c.3422G>T (p.Arg1141Leu) c.3455G>T (p.Arg1152Leu) | |
3 | g.38575379C= | CA1358572557 | SCN5A | c.3581G= (p.Arg1194=) c.3584G= (p.Arg1195=) c.3422G= (p.Arg1141=) c.3455G= (p.Arg1152=) | |
3 | g.38575379C>G | CA352138155 | SCN5A | c.3581G>C (p.Arg1194Pro) c.3584G>C (p.Arg1195Pro) c.3422G>C (p.Arg1141Pro) c.3455G>C (p.Arg1152Pro) | dbSNP gnomAD v2 |
3 | g.38575379C>T | CA017297 | SCN5A | c.3581G>A (p.Arg1194His) c.3584G>A (p.Arg1195His) c.3422G>A (p.Arg1141His) c.3455G>A (p.Arg1152His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575380G>A | CA349214 | SCN5A | c.3580C>T (p.Arg1194Cys) c.3583C>T (p.Arg1195Cys) c.3421C>T (p.Arg1141Cys) c.3454C>T (p.Arg1152Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575380G>C | CA352138157 | SCN5A | c.3580C>G (p.Arg1194Gly) c.3583C>G (p.Arg1195Gly) c.3421C>G (p.Arg1141Gly) c.3454C>G (p.Arg1152Gly) | |
3 | g.38575380G= | CA1358572558 | SCN5A | c.3580C= (p.Arg1194=) c.3583C= (p.Arg1195=) c.3421C= (p.Arg1141=) c.3454C= (p.Arg1152=) | |
3 | g.38575380G>T | CA352138158 | SCN5A | c.3580C>A (p.Arg1194Ser) c.3583C>A (p.Arg1195Ser) c.3421C>A (p.Arg1141Ser) c.3454C>A (p.Arg1152Ser) | |
3 | g.38575381C>A | CA352138159 | SCN5A | c.3579G>T (p.Leu1193Phe) c.3582G>T (p.Leu1194Phe) c.3420G>T (p.Leu1140Phe) c.3453G>T (p.Leu1151Phe) | gnomAD v4 |
3 | g.38575381C>G | CA352138160 | SCN5A | c.3579G>C (p.Leu1193Phe) c.3582G>C (p.Leu1194Phe) c.3420G>C (p.Leu1140Phe) c.3453G>C (p.Leu1151Phe) | |
3 | g.38575381C>T | CA433134043 | SCN5A | c.3579G>A (p.Leu1193=) c.3582G>A (p.Leu1194=) c.3420G>A (p.Leu1140=) c.3453G>A (p.Leu1151=) | COSMIC COSMIC COSMIC |
3 | g.38575382A= | CA1358572559 | SCN5A | c.3578T= (p.Leu1193=) c.3581T= (p.Leu1194=) c.3419T= (p.Leu1140=) c.3452T= (p.Leu1151=) | |
3 | g.38575382A>C | CA352138161 | SCN5A | c.3578T>G (p.Leu1193Trp) c.3581T>G (p.Leu1194Trp) c.3419T>G (p.Leu1140Trp) c.3452T>G (p.Leu1151Trp) | ClinVar dbSNP |
3 | g.38575382A>G | CA352138162 | SCN5A | c.3578T>C (p.Leu1193Ser) c.3581T>C (p.Leu1194Ser) c.3419T>C (p.Leu1140Ser) c.3452T>C (p.Leu1151Ser) | |
3 | g.38575382A>T | CA352138163 | SCN5A | c.3578T>A (p.Leu1193Ter) c.3581T>A (p.Leu1194Ter) c.3419T>A (p.Leu1140Ter) c.3452T>A (p.Leu1151Ter) | dbSNP |
3 | g.38575383A= | CA1358572560 | SCN5A | c.3577T= (p.Leu1193=) c.3580T= (p.Leu1194=) c.3418T= (p.Leu1140=) c.3451T= (p.Leu1151=) | |
3 | g.38575383A>C | CA352138164 | SCN5A | c.3577T>G (p.Leu1193Val) c.3580T>G (p.Leu1194Val) c.3418T>G (p.Leu1140Val) c.3451T>G (p.Leu1151Val) | dbSNP |
3 | g.38575383A>G | CA433134044 | SCN5A | c.3577T>C (p.Leu1193=) c.3580T>C (p.Leu1194=) c.3418T>C (p.Leu1140=) c.3451T>C (p.Leu1151=) | |
3 | g.38575383A>T | CA352138165 | SCN5A | c.3577T>A (p.Leu1193Met) c.3580T>A (p.Leu1194Met) c.3418T>A (p.Leu1140Met) c.3451T>A (p.Leu1151Met) | ClinVar dbSNP |
3 | g.38575384C>A | CA433134045 | SCN5A | c.3576G>T (p.Arg1192=) c.3579G>T (p.Arg1193=) c.3417G>T (p.Arg1139=) c.3450G>T (p.Arg1150=) | |
3 | g.38575384C= | CA1358572561 | SCN5A | c.3576G= (p.Arg1192=) c.3579G= (p.Arg1193=) c.3417G= (p.Arg1139=) c.3450G= (p.Arg1150=) | |
3 | g.38575384C>G | CA433134046 | SCN5A | c.3576G>C (p.Arg1192=) c.3579G>C (p.Arg1193=) c.3417G>C (p.Arg1139=) c.3450G>C (p.Arg1150=) | |
3 | g.38575384C>T | CA062064 | SCN5A | c.3576G>A (p.Arg1192=) c.3579G>A (p.Arg1193=) c.3417G>A (p.Arg1139=) c.3450G>A (p.Arg1150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575385C>A | CA352138166 | SCN5A | c.3575G>T (p.Arg1192Leu) c.3578G>T (p.Arg1193Leu) c.3416G>T (p.Arg1139Leu) c.3449G>T (p.Arg1150Leu) | |
3 | g.38575385C= | CA1358572562 | SCN5A | c.3575G= (p.Arg1192=) c.3578G= (p.Arg1193=) c.3416G= (p.Arg1139=) c.3449G= (p.Arg1150=) | |
3 | g.38575385C>G | CA352138167 | SCN5A | c.3575G>C (p.Arg1192Pro) c.3578G>C (p.Arg1193Pro) c.3416G>C (p.Arg1139Pro) c.3449G>C (p.Arg1150Pro) | |
3 | g.38575385C>T | CA017287 | SCN5A | c.3575G>A (p.Arg1192Gln) c.3578G>A (p.Arg1193Gln) c.3416G>A (p.Arg1139Gln) c.3449G>A (p.Arg1150Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575386G>A | CA017280 | SCN5A | c.3574C>T (p.Arg1192Trp) c.3577C>T (p.Arg1193Trp) c.3415C>T (p.Arg1139Trp) c.3448C>T (p.Arg1150Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575386G>C | CA352138168 | SCN5A | c.3574C>G (p.Arg1192Gly) c.3577C>G (p.Arg1193Gly) c.3415C>G (p.Arg1139Gly) c.3448C>G (p.Arg1150Gly) | |
3 | g.38575386G= | CA1358572563 | SCN5A | c.3574C= (p.Arg1192=) c.3577C= (p.Arg1193=) c.3415C= (p.Arg1139=) c.3448C= (p.Arg1150=) | |
3 | g.38575386G>T | CA433134047 | SCN5A | c.3574C>A (p.Arg1192=) c.3577C>A (p.Arg1193=) c.3415C>A (p.Arg1139=) c.3448C>A (p.Arg1150=) | gnomAD v4 |
3 | g.38575387C>A | CA352138169 | SCN5A | c.3573G>T (p.Trp1191Cys) c.3576G>T (p.Trp1192Cys) c.3414G>T (p.Trp1138Cys) c.3447G>T (p.Trp1149Cys) | |
3 | g.38575387C= | CA1358572564 | SCN5A | c.3573G= (p.Trp1191=) c.3576G= (p.Trp1192=) c.3414G= (p.Trp1138=) c.3447G= (p.Trp1149=) | |
3 | g.38575387C>G | CA352138170 | SCN5A | c.3573G>C (p.Trp1191Cys) c.3576G>C (p.Trp1192Cys) c.3414G>C (p.Trp1138Cys) c.3447G>C (p.Trp1149Cys) | |
3 | g.38575387C>T | CA352138171 | SCN5A | c.3573G>A (p.Trp1191Ter) c.3576G>A (p.Trp1192Ter) c.3414G>A (p.Trp1138Ter) c.3447G>A (p.Trp1149Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC |
3 | g.38575388C>A | CA352138172 | SCN5A | c.3572G>T (p.Trp1191Leu) c.3575G>T (p.Trp1192Leu) c.3413G>T (p.Trp1138Leu) c.3446G>T (p.Trp1149Leu) | gnomAD v4 |
3 | g.38575388C= | CA1358572565 | SCN5A | c.3572G= (p.Trp1191=) c.3575G= (p.Trp1192=) c.3413G= (p.Trp1138=) c.3446G= (p.Trp1149=) | |
3 | g.38575388C>G | CA352138173 | SCN5A | c.3572G>C (p.Trp1191Ser) c.3575G>C (p.Trp1192Ser) c.3413G>C (p.Trp1138Ser) c.3446G>C (p.Trp1149Ser) | |
3 | g.38575388C>T | CA017274 | SCN5A | c.3572G>A (p.Trp1191Ter) c.3575G>A (p.Trp1192Ter) c.3413G>A (p.Trp1138Ter) c.3446G>A (p.Trp1149Ter) | ClinVar dbSNP |
3 | g.38575389A>C | CA352138174 | SCN5A | c.3571T>G (p.Trp1191Gly) c.3574T>G (p.Trp1192Gly) c.3412T>G (p.Trp1138Gly) c.3445T>G (p.Trp1149Gly) | |
3 | g.38575389A>G | CA352138175 | SCN5A | c.3571T>C (p.Trp1191Arg) c.3574T>C (p.Trp1192Arg) c.3412T>C (p.Trp1138Arg) c.3445T>C (p.Trp1149Arg) | |
3 | g.38575389A>T | CA352138176 | SCN5A | c.3571T>A (p.Trp1191Arg) c.3574T>A (p.Trp1192Arg) c.3412T>A (p.Trp1138Arg) c.3445T>A (p.Trp1149Arg) | |
3 | g.38575390C>A | CA352138177 | SCN5A | c.3570G>T (p.Trp1190Cys) c.3573G>T (p.Trp1191Cys) c.3411G>T (p.Trp1137Cys) c.3444G>T (p.Trp1148Cys) | dbSNP gnomAD v2 |
3 | g.38575390C= | CA1358572566 | SCN5A | c.3570G= (p.Trp1190=) c.3573G= (p.Trp1191=) c.3411G= (p.Trp1137=) c.3444G= (p.Trp1148=) | |
3 | g.38575390C>G | CA352138178 | SCN5A | c.3570G>C (p.Trp1190Cys) c.3573G>C (p.Trp1191Cys) c.3411G>C (p.Trp1137Cys) c.3444G>C (p.Trp1148Cys) | |
3 | g.38575390C>T | CA352138179 | SCN5A | c.3570G>A (p.Trp1190Ter) c.3573G>A (p.Trp1191Ter) c.3411G>A (p.Trp1137Ter) c.3444G>A (p.Trp1148Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.38575391C>A | CA352138181 | SCN5A | c.3569G>T (p.Trp1190Leu) c.3572G>T (p.Trp1191Leu) c.3410G>T (p.Trp1137Leu) c.3443G>T (p.Trp1148Leu) | |
3 | g.38575391C>G | CA352138182 | SCN5A | c.3569G>C (p.Trp1190Ser) c.3572G>C (p.Trp1191Ser) c.3410G>C (p.Trp1137Ser) c.3443G>C (p.Trp1148Ser) | |
3 | g.38575391C>T | CA352138180 | SCN5A | c.3569G>A (p.Trp1190Ter) c.3572G>A (p.Trp1191Ter) c.3410G>A (p.Trp1137Ter) c.3443G>A (p.Trp1148Ter) | gnomAD v4 |
3 | g.38575392A>C | CA352138183 | SCN5A | c.3568T>G (p.Trp1190Gly) c.3571T>G (p.Trp1191Gly) c.3409T>G (p.Trp1137Gly) c.3442T>G (p.Trp1148Gly) | |
3 | g.38575392A>G | CA352138184 | SCN5A | c.3568T>C (p.Trp1190Arg) c.3571T>C (p.Trp1191Arg) c.3409T>C (p.Trp1137Arg) c.3442T>C (p.Trp1148Arg) | |
3 | g.38575392A>T | CA352138185 | SCN5A | c.3568T>A (p.Trp1190Arg) c.3571T>A (p.Trp1191Arg) c.3409T>A (p.Trp1137Arg) c.3442T>A (p.Trp1148Arg) | |
3 | g.38575393G>A | CA433134048 | SCN5A | c.3567C>T (p.Val1189=) c.3570C>T (p.Val1190=) c.3408C>T (p.Val1136=) c.3441C>T (p.Val1147=) | |
3 | g.38575393G>C | CA433134049 | SCN5A | c.3567C>G (p.Val1189=) c.3570C>G (p.Val1190=) c.3408C>G (p.Val1136=) c.3441C>G (p.Val1147=) | |
3 | g.38575393G>T | CA433134050 | SCN5A | c.3567C>A (p.Val1189=) c.3570C>A (p.Val1190=) c.3408C>A (p.Val1136=) c.3441C>A (p.Val1147=) | |
3 | g.38575394A>C | CA352138186 | SCN5A | c.3566T>G (p.Val1189Gly) c.3569T>G (p.Val1190Gly) c.3407T>G (p.Val1136Gly) c.3440T>G (p.Val1147Gly) | gnomAD v4 |
3 | g.38575394A>G | CA352138187 | SCN5A | c.3566T>C (p.Val1189Ala) c.3569T>C (p.Val1190Ala) c.3407T>C (p.Val1136Ala) c.3440T>C (p.Val1147Ala) | |
3 | g.38575394A>T | CA352138188 | SCN5A | c.3566T>A (p.Val1189Asp) c.3569T>A (p.Val1190Asp) c.3407T>A (p.Val1136Asp) c.3440T>A (p.Val1147Asp) | |
3 | g.38575395C>A | CA352138191 | SCN5A | c.3565G>T (p.Val1189Phe) c.3568G>T (p.Val1190Phe) c.3406G>T (p.Val1136Phe) c.3439G>T (p.Val1147Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575395C= | CA1358572567 | SCN5A | c.3565G= (p.Val1189=) c.3568G= (p.Val1190=) c.3406G= (p.Val1136=) c.3439G= (p.Val1147=) | |
3 | g.38575395C>G | CA352138189 | SCN5A | c.3565G>C (p.Val1189Leu) c.3568G>C (p.Val1190Leu) c.3406G>C (p.Val1136Leu) c.3439G>C (p.Val1147Leu) | dbSNP |
3 | g.38575395C>T | CA352138190 | SCN5A | c.3565G>A (p.Val1189Ile) c.3568G>A (p.Val1190Ile) c.3406G>A (p.Val1136Ile) c.3439G>A (p.Val1147Ile) | |
3 | g.38575396C>A | CA352138192 | SCN5A | c.3564G>T (p.Lys1188Asn) c.3567G>T (p.Lys1189Asn) c.3405G>T (p.Lys1135Asn) c.3438G>T (p.Lys1146Asn) | |
3 | g.38575396C= | CA1358572568 | SCN5A | c.3564G= (p.Lys1188=) c.3567G= (p.Lys1189=) c.3405G= (p.Lys1135=) c.3438G= (p.Lys1146=) | |
3 | g.38575396C>G | CA352138193 | SCN5A | c.3564G>C (p.Lys1188Asn) c.3567G>C (p.Lys1189Asn) c.3405G>C (p.Lys1135Asn) c.3438G>C (p.Lys1146Asn) | ClinVar dbSNP |
3 | g.38575396C>T | CA433134052 | SCN5A | c.3564G>A (p.Lys1188=) c.3567G>A (p.Lys1189=) c.3405G>A (p.Lys1135=) c.3438G>A (p.Lys1146=) | ClinVar dbSNP gnomAD v4 |
3 | g.38575396_38575405del | CA2837240895 | SCN5A | c.3555_3564del (p.Pro1186SerfsTer25) c.3558_3567del (p.Pro1187SerfsTer25) c.3396_3405del (p.Pro1133SerfsTer25) c.3429_3438del (p.Pro1144SerfsTer25) | |
3 | g.38575397T>A | CA352138194 | SCN5A | c.3563A>T (p.Lys1188Met) c.3566A>T (p.Lys1189Met) c.3404A>T (p.Lys1135Met) c.3437A>T (p.Lys1146Met) | |
3 | g.38575397T>C | CA352138195 | SCN5A | c.3563A>G (p.Lys1188Arg) c.3566A>G (p.Lys1189Arg) c.3404A>G (p.Lys1135Arg) c.3437A>G (p.Lys1146Arg) | |
3 | g.38575397T>G | CA352138196 | SCN5A | c.3563A>C (p.Lys1188Thr) c.3566A>C (p.Lys1189Thr) c.3404A>C (p.Lys1135Thr) c.3437A>C (p.Lys1146Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575397T= | CA1358572569 | SCN5A | c.3563A= (p.Lys1188=) c.3566A= (p.Lys1189=) c.3404A= (p.Lys1135=) c.3437A= (p.Lys1146=) | |
3 | g.38575398T>A | CA352138199 | SCN5A | c.3562A>T (p.Lys1188Ter) c.3565A>T (p.Lys1189Ter) c.3403A>T (p.Lys1135Ter) c.3436A>T (p.Lys1146Ter) | dbSNP |
3 | g.38575398T>C | CA352138197 | SCN5A | c.3562A>G (p.Lys1188Glu) c.3565A>G (p.Lys1189Glu) c.3403A>G (p.Lys1135Glu) c.3436A>G (p.Lys1146Glu) | |
3 | g.38575398T>G | CA352138198 | SCN5A | c.3562A>C (p.Lys1188Gln) c.3565A>C (p.Lys1189Gln) c.3403A>C (p.Lys1135Gln) c.3436A>C (p.Lys1146Gln) | |
3 | g.38575398T= | CA1358572570 | SCN5A | c.3562A= (p.Lys1188=) c.3565A= (p.Lys1189=) c.3403A= (p.Lys1135=) c.3436A= (p.Lys1146=) | |
3 | g.38575399C>A | CA062045 | SCN5A | c.3561G>T (p.Gly1187=) c.3564G>T (p.Gly1188=) c.3402G>T (p.Gly1134=) c.3435G>T (p.Gly1145=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575399C= | CA1358572571 | SCN5A | c.3561G= (p.Gly1187=) c.3564G= (p.Gly1188=) c.3402G= (p.Gly1134=) c.3435G= (p.Gly1145=) | |
3 | g.38575399C>G | CA433134054 | SCN5A | c.3561G>C (p.Gly1187=) c.3564G>C (p.Gly1188=) c.3402G>C (p.Gly1134=) c.3435G>C (p.Gly1145=) | |
3 | g.38575399C>T | CA433134053 | SCN5A | c.3561G>A (p.Gly1187=) c.3564G>A (p.Gly1188=) c.3402G>A (p.Gly1134=) c.3435G>A (p.Gly1145=) | |
3 | g.38575400C>A | CA352138200 | SCN5A | c.3560G>T (p.Gly1187Val) c.3563G>T (p.Gly1188Val) c.3401G>T (p.Gly1134Val) c.3434G>T (p.Gly1145Val) | |
3 | g.38575400C>G | CA352138201 | SCN5A | c.3560G>C (p.Gly1187Ala) c.3563G>C (p.Gly1188Ala) c.3401G>C (p.Gly1134Ala) c.3434G>C (p.Gly1145Ala) | |
3 | g.38575400C>T | CA352138202 | SCN5A | c.3560G>A (p.Gly1187Glu) c.3563G>A (p.Gly1188Glu) c.3401G>A (p.Gly1134Glu) c.3434G>A (p.Gly1145Glu) | gnomAD v4 |
3 | g.38575401C>A | CA352138203 | SCN5A | c.3559G>T (p.Gly1187Trp) c.3562G>T (p.Gly1188Trp) c.3400G>T (p.Gly1134Trp) c.3433G>T (p.Gly1145Trp) | |
3 | g.38575401C>G | CA352138204 | SCN5A | c.3559G>C (p.Gly1187Arg) c.3562G>C (p.Gly1188Arg) c.3400G>C (p.Gly1134Arg) c.3433G>C (p.Gly1145Arg) | |
3 | g.38575401C>T | CA352138205 | SCN5A | c.3559G>A (p.Gly1187Arg) c.3562G>A (p.Gly1188Arg) c.3400G>A (p.Gly1134Arg) c.3433G>A (p.Gly1145Arg) | |
3 | g.38575402T>A | CA433134055 | SCN5A | c.3558A>T (p.Pro1186=) c.3561A>T (p.Pro1187=) c.3399A>T (p.Pro1133=) c.3432A>T (p.Pro1144=) | |
3 | g.38575402T>C | CA433134057 | SCN5A | c.3558A>G (p.Pro1186=) c.3561A>G (p.Pro1187=) c.3399A>G (p.Pro1133=) c.3432A>G (p.Pro1144=) | |
3 | g.38575402T>G | CA433134056 | SCN5A | c.3558A>C (p.Pro1186=) c.3561A>C (p.Pro1187=) c.3399A>C (p.Pro1133=) c.3432A>C (p.Pro1144=) | |
3 | g.38575403G>A | CA017267 | SCN5A | c.3557C>T (p.Pro1186Leu) c.3560C>T (p.Pro1187Leu) c.3398C>T (p.Pro1133Leu) c.3431C>T (p.Pro1144Leu) | ClinVar dbSNP |
3 | g.38575403G>C | CA352138206 | SCN5A | c.3557C>G (p.Pro1186Arg) c.3560C>G (p.Pro1187Arg) c.3398C>G (p.Pro1133Arg) c.3431C>G (p.Pro1144Arg) | |
3 | g.38575403G= | CA1358572572 | SCN5A | c.3557C= (p.Pro1186=) c.3560C= (p.Pro1187=) c.3398C= (p.Pro1133=) c.3431C= (p.Pro1144=) | |
3 | g.38575403G>T | CA062038 | SCN5A | c.3557C>A (p.Pro1186Gln) c.3560C>A (p.Pro1187Gln) c.3398C>A (p.Pro1133Gln) c.3431C>A (p.Pro1144Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38575406del | CA2595894910 | SCN5A | c.3557del (p.Pro1186GlnfsTer28) c.3560del (p.Pro1187GlnfsTer28) c.3398del (p.Pro1133GlnfsTer28) c.3431del (p.Pro1144GlnfsTer28) | gnomAD v3 gnomAD v4 |
3 | g.38575404G>A | CA352138207 | SCN5A | c.3556C>T (p.Pro1186Ser) c.3559C>T (p.Pro1187Ser) c.3397C>T (p.Pro1133Ser) c.3430C>T (p.Pro1144Ser) | |
3 | g.38575404G>C | CA352138208 | SCN5A | c.3556C>G (p.Pro1186Ala) c.3559C>G (p.Pro1187Ala) c.3397C>G (p.Pro1133Ala) c.3430C>G (p.Pro1144Ala) | |
3 | g.38575404G>T | CA352138209 | SCN5A | c.3556C>A (p.Pro1186Thr) c.3559C>A (p.Pro1187Thr) c.3397C>A (p.Pro1133Thr) c.3430C>A (p.Pro1144Thr) | |
3 | g.38575405G>A | CA433134058 | SCN5A | c.3555C>T (p.Ala1185=) c.3558C>T (p.Ala1186=) c.3396C>T (p.Ala1132=) c.3429C>T (p.Ala1143=) | |
3 | g.38575405G>C | CA433134059 | SCN5A | c.3555C>G (p.Ala1185=) c.3558C>G (p.Ala1186=) c.3396C>G (p.Ala1132=) c.3429C>G (p.Ala1143=) | |
3 | g.38575405G>T | CA433134060 | SCN5A | c.3555C>A (p.Ala1185=) c.3558C>A (p.Ala1186=) c.3396C>A (p.Ala1132=) c.3429C>A (p.Ala1143=) | gnomAD v3 gnomAD v4 |
3 | g.38575406G>A | CA352138212 | SCN5A | c.3554C>T (p.Ala1185Val) c.3557C>T (p.Ala1186Val) c.3395C>T (p.Ala1132Val) c.3428C>T (p.Ala1143Val) | |
3 | g.38575406G>C | CA352138210 | SCN5A | c.3554C>G (p.Ala1185Gly) c.3557C>G (p.Ala1186Gly) c.3395C>G (p.Ala1132Gly) c.3428C>G (p.Ala1143Gly) | |
3 | g.38575406G= | CA1358572573 | SCN5A | c.3554C= (p.Ala1185=) c.3557C= (p.Ala1186=) c.3395C= (p.Ala1132=) c.3428C= (p.Ala1143=) | |
3 | g.38575406G>T | CA352138211 | SCN5A | c.3554C>A (p.Ala1185Asp) c.3557C>A (p.Ala1186Asp) c.3395C>A (p.Ala1132Asp) c.3428C>A (p.Ala1143Asp) | ClinVar dbSNP |
3 | g.38575407C>A | CA352138213 | SCN5A | c.3553G>T (p.Ala1185Ser) c.3556G>T (p.Ala1186Ser) c.3394G>T (p.Ala1132Ser) c.3427G>T (p.Ala1143Ser) | dbSNP gnomAD v4 |
3 | g.38575407C= | CA1358572574 | SCN5A | c.3553G= (p.Ala1185=) c.3556G= (p.Ala1186=) c.3394G= (p.Ala1132=) c.3427G= (p.Ala1143=) | |
3 | g.38575407C>G | CA352138214 | SCN5A | c.3553G>C (p.Ala1185Pro) c.3556G>C (p.Ala1186Pro) c.3394G>C (p.Ala1132Pro) c.3427G>C (p.Ala1143Pro) | |
3 | g.38575407C>T | CA017261 | SCN5A | c.3553G>A (p.Ala1185Thr) c.3556G>A (p.Ala1186Thr) c.3394G>A (p.Ala1132Thr) c.3427G>A (p.Ala1143Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575408C>A | CA352138215 | SCN5A | c.3552G>T (p.Gln1184His) c.3555G>T (p.Gln1185His) c.3393G>T (p.Gln1131His) c.3426G>T (p.Gln1142His) | gnomAD v4 |
3 | g.38575408C>G | CA352138216 | SCN5A | c.3552G>C (p.Gln1184His) c.3555G>C (p.Gln1185His) c.3393G>C (p.Gln1131His) c.3426G>C (p.Gln1142His) | |
3 | g.38575408C>T | CA433134061 | SCN5A | c.3552G>A (p.Gln1184=) c.3555G>A (p.Gln1185=) c.3393G>A (p.Gln1131=) c.3426G>A (p.Gln1142=) | gnomAD v4 |
3 | g.38575409T>A | CA352138218 | SCN5A | c.3551A>T (p.Gln1184Leu) c.3554A>T (p.Gln1185Leu) c.3392A>T (p.Gln1131Leu) c.3425A>T (p.Gln1142Leu) | gnomAD v4 |
3 | g.38575409T>C | CA72923237 | SCN5A | c.3551A>G (p.Gln1184Arg) c.3554A>G (p.Gln1185Arg) c.3392A>G (p.Gln1131Arg) c.3425A>G (p.Gln1142Arg) | ClinVar dbSNP |
3 | g.38575409T>G | CA352138217 | SCN5A | c.3551A>C (p.Gln1184Pro) c.3554A>C (p.Gln1185Pro) c.3392A>C (p.Gln1131Pro) c.3425A>C (p.Gln1142Pro) | gnomAD v4 |
3 | g.38575409T= | CA1358572575 | SCN5A | c.3551A= (p.Gln1184=) c.3554A= (p.Gln1185=) c.3392A= (p.Gln1131=) c.3425A= (p.Gln1142=) | |
3 | g.38575413_38575414del | CA2586972094 | SCN5A | c.3550_3551del (p.Gln1184GlyfsTer?) c.3553_3554del (p.Gln1185GlyfsTer?) c.3391_3392del (p.Gln1131GlyfsTer?) c.3424_3425del (p.Gln1142GlyfsTer?) | |
3 | g.38575410G>A | CA017254 | SCN5A | c.3550C>T (p.Gln1184Ter) c.3553C>T (p.Gln1185Ter) c.3391C>T (p.Gln1131Ter) c.3424C>T (p.Gln1142Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.38575410G>C | CA352138219 | SCN5A | c.3550C>G (p.Gln1184Glu) c.3553C>G (p.Gln1185Glu) c.3391C>G (p.Gln1131Glu) c.3424C>G (p.Gln1142Glu) | |
3 | g.38575410G= | CA1358572576 | SCN5A | c.3550C= (p.Gln1184=) c.3553C= (p.Gln1185=) c.3391C= (p.Gln1131=) c.3424C= (p.Gln1142=) | |
3 | g.38575410G>T | CA352138220 | SCN5A | c.3550C>A (p.Gln1184Lys) c.3553C>A (p.Gln1185Lys) c.3391C>A (p.Gln1131Lys) c.3424C>A (p.Gln1142Lys) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575411T>A | CA433134062 | SCN5A | c.3549A>T (p.Thr1183=) c.3552A>T (p.Thr1184=) c.3390A>T (p.Thr1130=) c.3423A>T (p.Thr1141=) | |
3 | g.38575411T>C | CA433134063 | SCN5A | c.3549A>G (p.Thr1183=) c.3552A>G (p.Thr1184=) c.3390A>G (p.Thr1130=) c.3423A>G (p.Thr1141=) | |
3 | g.38575411T>G | CA433134064 | SCN5A | c.3549A>C (p.Thr1183=) c.3552A>C (p.Thr1184=) c.3390A>C (p.Thr1130=) c.3423A>C (p.Thr1141=) | |
3 | g.38575412G>A | CA352138221 | SCN5A | c.3548C>T (p.Thr1183Ile) c.3551C>T (p.Thr1184Ile) c.3389C>T (p.Thr1130Ile) c.3422C>T (p.Thr1141Ile) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575412G>C | CA352138222 | SCN5A | c.3548C>G (p.Thr1183Arg) c.3551C>G (p.Thr1184Arg) c.3389C>G (p.Thr1130Arg) c.3422C>G (p.Thr1141Arg) | |
3 | g.38575412G= | CA1358572577 | SCN5A | c.3548C= (p.Thr1183=) c.3551C= (p.Thr1184=) c.3389C= (p.Thr1130=) c.3422C= (p.Thr1141=) | |
3 | g.38575412G>T | CA352138223 | SCN5A | c.3548C>A (p.Thr1183Lys) c.3551C>A (p.Thr1184Lys) c.3389C>A (p.Thr1130Lys) c.3422C>A (p.Thr1141Lys) | |
3 | g.38575413T>A | CA352138226 | SCN5A | c.3547A>T (p.Thr1183Ser) c.3550A>T (p.Thr1184Ser) c.3388A>T (p.Thr1130Ser) c.3421A>T (p.Thr1141Ser) | |
3 | g.38575413T>C | CA352138224 | SCN5A | c.3547A>G (p.Thr1183Ala) c.3550A>G (p.Thr1184Ala) c.3388A>G (p.Thr1130Ala) c.3421A>G (p.Thr1141Ala) | |
3 | g.38575413T>G | CA352138225 | SCN5A | c.3547A>C (p.Thr1183Pro) c.3550A>C (p.Thr1184Pro) c.3388A>C (p.Thr1130Pro) c.3421A>C (p.Thr1141Pro) | |
3 | g.38575414G>A | CA433134065 | SCN5A | c.3546C>T (p.Thr1182=) c.3549C>T (p.Thr1183=) c.3387C>T (p.Thr1129=) c.3420C>T (p.Thr1140=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575414G>C | CA433134066 | SCN5A | c.3546C>G (p.Thr1182=) c.3549C>G (p.Thr1183=) c.3387C>G (p.Thr1129=) c.3420C>G (p.Thr1140=) | |
3 | g.38575414G= | CA1358572578 | SCN5A | c.3546C= (p.Thr1182=) c.3549C= (p.Thr1183=) c.3387C= (p.Thr1129=) c.3420C= (p.Thr1140=) | |
3 | g.38575414G>T | CA433134067 | SCN5A | c.3546C>A (p.Thr1182=) c.3549C>A (p.Thr1183=) c.3387C>A (p.Thr1129=) c.3420C>A (p.Thr1140=) | ClinVar |
3 | g.38575415G>A | CA352138227 | SCN5A | c.3545C>T (p.Thr1182Ile) c.3548C>T (p.Thr1183Ile) c.3386C>T (p.Thr1129Ile) c.3419C>T (p.Thr1140Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575415G>C | CA352138228 | SCN5A | c.3545C>G (p.Thr1182Ser) c.3548C>G (p.Thr1183Ser) c.3386C>G (p.Thr1129Ser) c.3419C>G (p.Thr1140Ser) | dbSNP |
3 | g.38575415G= | CA1358572579 | SCN5A | c.3545C= (p.Thr1182=) c.3548C= (p.Thr1183=) c.3386C= (p.Thr1129=) c.3419C= (p.Thr1140=) | |
3 | g.38575415G>T | CA352138229 | SCN5A | c.3545C>A (p.Thr1182Asn) c.3548C>A (p.Thr1183Asn) c.3386C>A (p.Thr1129Asn) c.3419C>A (p.Thr1140Asn) | |
3 | g.38575416T>A | CA352138230 | SCN5A | c.3544A>T (p.Thr1182Ser) c.3547A>T (p.Thr1183Ser) c.3385A>T (p.Thr1129Ser) c.3418A>T (p.Thr1140Ser) | |
3 | g.38575416T>C | CA352138231 | SCN5A | c.3544A>G (p.Thr1182Ala) c.3547A>G (p.Thr1183Ala) c.3385A>G (p.Thr1129Ala) c.3418A>G (p.Thr1140Ala) | |
3 | g.38575416T>G | CA352138232 | SCN5A | c.3544A>C (p.Thr1182Pro) c.3547A>C (p.Thr1183Pro) c.3385A>C (p.Thr1129Pro) c.3418A>C (p.Thr1140Pro) | |
3 | g.38575417G>A | CA062013 | SCN5A | c.3543C>T (p.Asp1181=) c.3546C>T (p.Asp1182=) c.3384C>T (p.Asp1128=) c.3417C>T (p.Asp1139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38575417G>C | CA352138233 | SCN5A | c.3543C>G (p.Asp1181Glu) c.3546C>G (p.Asp1182Glu) c.3384C>G (p.Asp1128Glu) c.3417C>G (p.Asp1139Glu) | |
3 | g.38575417G= | CA1358572580 | SCN5A | c.3543C= (p.Asp1181=) c.3546C= (p.Asp1182=) c.3384C= (p.Asp1128=) c.3417C= (p.Asp1139=) | |
3 | g.38575417G>T | CA352138234 | SCN5A | c.3543C>A (p.Asp1181Glu) c.3546C>A (p.Asp1182Glu) c.3384C>A (p.Asp1128Glu) c.3417C>A (p.Asp1139Glu) | gnomAD v4 |
3 | g.38575418T>A | CA352138235 | SCN5A | c.3542A>T (p.Asp1181Val) c.3545A>T (p.Asp1182Val) c.3383A>T (p.Asp1128Val) c.3416A>T (p.Asp1139Val) | gnomAD v4 |
3 | g.38575418T>C | CA352138236 | SCN5A | c.3542A>G (p.Asp1181Gly) c.3545A>G (p.Asp1182Gly) c.3383A>G (p.Asp1128Gly) c.3416A>G (p.Asp1139Gly) | gnomAD v4 |
3 | g.38575418T>G | CA352138237 | SCN5A | c.3542A>C (p.Asp1181Ala) c.3545A>C (p.Asp1182Ala) c.3383A>C (p.Asp1128Ala) c.3416A>C (p.Asp1139Ala) | |
3 | g.38575419C>A | CA352138238 | SCN5A | c.3541G>T (p.Asp1181Tyr) c.3544G>T (p.Asp1182Tyr) c.3382G>T (p.Asp1128Tyr) c.3415G>T (p.Asp1139Tyr) | |
3 | g.38575419C= | CA1358572581 | SCN5A | c.3541G= (p.Asp1181=) c.3544G= (p.Asp1182=) c.3382G= (p.Asp1128=) c.3415G= (p.Asp1139=) | |
3 | g.38575419C>G | CA352138240 | SCN5A | c.3541G>C (p.Asp1181His) c.3544G>C (p.Asp1182His) c.3382G>C (p.Asp1128His) c.3415G>C (p.Asp1139His) | |
3 | g.38575419C>T | CA352138239 | SCN5A | c.3541G>A (p.Asp1181Asn) c.3544G>A (p.Asp1182Asn) c.3382G>A (p.Asp1128Asn) c.3415G>A (p.Asp1139Asn) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38575420C>A | CA433134068 | SCN5A | c.3540G>T (p.Val1180=) c.3543G>T (p.Val1181=) c.3381G>T (p.Val1127=) c.3414G>T (p.Val1138=) | gnomAD v4 |
3 | g.38575420C= | CA1358572582 | SCN5A | c.3540G= (p.Val1180=) c.3543G= (p.Val1181=) c.3381G= (p.Val1127=) c.3414G= (p.Val1138=) | |
3 | g.38575420C>G | CA433134069 | SCN5A | c.3540G>C (p.Val1180=) c.3543G>C (p.Val1181=) c.3381G>C (p.Val1127=) c.3414G>C (p.Val1138=) | |
3 | g.38575420C>T | CA433134070 | SCN5A | c.3540G>A (p.Val1180=) c.3543G>A (p.Val1181=) c.3381G>A (p.Val1127=) c.3414G>A (p.Val1138=) | ClinVar dbSNP |
3 | g.38575421A= | CA1358572583 | SCN5A | c.3539T= (p.Val1180=) c.3542T= (p.Val1181=) c.3380T= (p.Val1127=) c.3413T= (p.Val1138=) | |
3 | g.38575421A>C | CA352138241 | SCN5A | c.3539T>G (p.Val1180Gly) c.3542T>G (p.Val1181Gly) c.3380T>G (p.Val1127Gly) c.3413T>G (p.Val1138Gly) | |
3 | g.38575421A>G | CA062009 | SCN5A | c.3539T>C (p.Val1180Ala) c.3542T>C (p.Val1181Ala) c.3380T>C (p.Val1127Ala) c.3413T>C (p.Val1138Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38575421A>T | CA352138242 | SCN5A | c.3539T>A (p.Val1180Glu) c.3542T>A (p.Val1181Glu) c.3380T>A (p.Val1127Glu) c.3413T>A (p.Val1138Glu) | |
3 | g.38575422C>A | CA017238 | SCN5A | c.3538G>T (p.Val1180Leu) c.3541G>T (p.Val1181Leu) c.3379G>T (p.Val1127Leu) c.3412G>T (p.Val1138Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575422C= | CA1358572584 | SCN5A | c.3538G= (p.Val1180=) c.3541G= (p.Val1181=) c.3379G= (p.Val1127=) c.3412G= (p.Val1138=) | |
3 | g.38575422C>G | CA352138243 | SCN5A | c.3538G>C (p.Val1180Leu) c.3541G>C (p.Val1181Leu) c.3379G>C (p.Val1127Leu) c.3412G>C (p.Val1138Leu) | |
3 | g.38575422C>T | CA352138244 | SCN5A | c.3538G>A (p.Val1180Met) c.3541G>A (p.Val1181Met) c.3379G>A (p.Val1127Met) c.3412G>A (p.Val1138Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575423C>A | CA433134071 | SCN5A | c.3537G>T (p.Ala1179=) c.3540G>T (p.Ala1180=) c.3378G>T (p.Ala1126=) c.3411G>T (p.Ala1137=) | ClinVar gnomAD v4 |
3 | g.38575423C= | CA1358572585 | SCN5A | c.3537G= (p.Ala1179=) c.3540G= (p.Ala1180=) c.3378G= (p.Ala1126=) c.3411G= (p.Ala1137=) | |
3 | g.38575423C>G | CA433134072 | SCN5A | c.3537G>C (p.Ala1179=) c.3540G>C (p.Ala1180=) c.3378G>C (p.Ala1126=) c.3411G>C (p.Ala1137=) | |
3 | g.38575423C>T | CA017231 | SCN5A | c.3537G>A (p.Ala1179=) c.3540G>A (p.Ala1180=) c.3378G>A (p.Ala1126=) c.3411G>A (p.Ala1137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575424G>A | CA017225 | SCN5A | c.3536C>T (p.Ala1179Val) c.3539C>T (p.Ala1180Val) c.3377C>T (p.Ala1126Val) c.3410C>T (p.Ala1137Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575424G>C | CA352138245 | SCN5A | c.3536C>G (p.Ala1179Gly) c.3539C>G (p.Ala1180Gly) c.3377C>G (p.Ala1126Gly) c.3410C>G (p.Ala1137Gly) | |
3 | g.38575424G= | CA1358572586 | SCN5A | c.3536C= (p.Ala1179=) c.3539C= (p.Ala1180=) c.3377C= (p.Ala1126=) c.3410C= (p.Ala1137=) | |
3 | g.38575424G>T | CA352138246 | SCN5A | c.3536C>A (p.Ala1179Glu) c.3539C>A (p.Ala1180Glu) c.3377C>A (p.Ala1126Glu) c.3410C>A (p.Ala1137Glu) | |
3 | g.38575425C>A | CA352138247 | SCN5A | c.3535G>T (p.Ala1179Ser) c.3538G>T (p.Ala1180Ser) c.3376G>T (p.Ala1126Ser) c.3409G>T (p.Ala1137Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.38575425C= | CA1358572587 | SCN5A | c.3535G= (p.Ala1179=) c.3538G= (p.Ala1180=) c.3376G= (p.Ala1126=) c.3409G= (p.Ala1137=) | |
3 | g.38575425C>G | CA352138248 | SCN5A | c.3535G>C (p.Ala1179Pro) c.3538G>C (p.Ala1180Pro) c.3376G>C (p.Ala1126Pro) c.3409G>C (p.Ala1137Pro) | |
3 | g.38575425C>T | CA352138249 | SCN5A | c.3535G>A (p.Ala1179Thr) c.3538G>A (p.Ala1180Thr) c.3376G>A (p.Ala1126Thr) c.3409G>A (p.Ala1137Thr) | ClinVar dbSNP |
3 | g.38575426A= | CA1358572588 | SCN5A | c.3534T= (p.Cys1178=) c.3537T= (p.Cys1179=) c.3375T= (p.Cys1125=) c.3408T= (p.Cys1136=) | |
3 | g.38575426A>C | CA352138250 | SCN5A | c.3534T>G (p.Cys1178Trp) c.3537T>G (p.Cys1179Trp) c.3375T>G (p.Cys1125Trp) c.3408T>G (p.Cys1136Trp) | |
3 | g.38575426A>G | CA061992 | SCN5A | c.3534T>C (p.Cys1178=) c.3537T>C (p.Cys1179=) c.3375T>C (p.Cys1125=) c.3408T>C (p.Cys1136=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38575426A>T | CA352138251 | SCN5A | c.3534T>A (p.Cys1178Ter) c.3537T>A (p.Cys1179Ter) c.3375T>A (p.Cys1125Ter) c.3408T>A (p.Cys1136Ter) | dbSNP |
3 | g.38575427C>A | CA352138252 | SCN5A | c.3533G>T (p.Cys1178Phe) c.3536G>T (p.Cys1179Phe) c.3374G>T (p.Cys1125Phe) c.3407G>T (p.Cys1136Phe) | |
3 | g.38575427C>G | CA352138254 | SCN5A | c.3533G>C (p.Cys1178Ser) c.3536G>C (p.Cys1179Ser) c.3374G>C (p.Cys1125Ser) c.3407G>C (p.Cys1136Ser) | ClinVar |
3 | g.38575427C>T | CA352138253 | SCN5A | c.3533G>A (p.Cys1178Tyr) c.3536G>A (p.Cys1179Tyr) c.3374G>A (p.Cys1125Tyr) c.3407G>A (p.Cys1136Tyr) | gnomAD v4 |
3 | g.38575428A>C | CA352138255 | SCN5A | c.3532T>G (p.Cys1178Gly) c.3535T>G (p.Cys1179Gly) c.3373T>G (p.Cys1125Gly) c.3406T>G (p.Cys1136Gly) | |
3 | g.38575428A>G | CA352138256 | SCN5A | c.3532T>C (p.Cys1178Arg) c.3535T>C (p.Cys1179Arg) c.3373T>C (p.Cys1125Arg) c.3406T>C (p.Cys1136Arg) | |
3 | g.38575428A>T | CA352138257 | SCN5A | c.3532T>A (p.Cys1178Ser) c.3535T>A (p.Cys1179Ser) c.3373T>A (p.Cys1125Ser) c.3406T>A (p.Cys1136Ser) | ClinVar dbSNP |
3 | g.38575429G>A | CA433134074 | SCN5A | c.3531C>T (p.Cys1177=) c.3534C>T (p.Cys1178=) c.3372C>T (p.Cys1124=) c.3405C>T (p.Cys1135=) | |
3 | g.38575429G>C | CA352138258 | SCN5A | c.3531C>G (p.Cys1177Trp) c.3534C>G (p.Cys1178Trp) c.3372C>G (p.Cys1124Trp) c.3405C>G (p.Cys1135Trp) | |
3 | g.38575429G= | CA1358572589 | SCN5A | c.3531C= (p.Cys1177=) c.3534C= (p.Cys1178=) c.3372C= (p.Cys1124=) c.3405C= (p.Cys1135=) | |
3 | g.38575429G>T | CA352138259 | SCN5A | c.3531C>A (p.Cys1177Ter) c.3534C>A (p.Cys1178Ter) c.3372C>A (p.Cys1124Ter) c.3405C>A (p.Cys1135Ter) | dbSNP gnomAD v4 |