Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38575347_38575386delinsAGCTGTGCTCCACGATGTGGTAGCAGGTCTTGCGCAACCGCA1358572542SCN5Ac.3574_3613delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1192=)
c.3577_3616delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1193=)
c.3415_3454delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1139=)
c.3448_3487delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1150=)
3g.38575348_38575386delCA1047000738SCN5Ac.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
3g.38575352T>ACA352138093SCN5Ac.3608A>T (p.His1203Leu)
c.3611A>T (p.His1204Leu)
c.3449A>T (p.His1150Leu)
c.3482A>T (p.His1161Leu)
3g.38575352T>CCA352138094SCN5Ac.3608A>G (p.His1203Arg)
c.3611A>G (p.His1204Arg)
c.3449A>G (p.His1150Arg)
c.3482A>G (p.His1161Arg)
3g.38575352T>GCA352138095SCN5Ac.3608A>C (p.His1203Pro)
c.3611A>C (p.His1204Pro)
c.3449A>C (p.His1150Pro)
c.3482A>C (p.His1161Pro)
3g.38575353G>ACA352138096SCN5Ac.3607C>T (p.His1203Tyr)
c.3610C>T (p.His1204Tyr)
c.3448C>T (p.His1150Tyr)
c.3481C>T (p.His1161Tyr)
3g.38575353G>CCA352138097SCN5Ac.3607C>G (p.His1203Asp)
c.3610C>G (p.His1204Asp)
c.3448C>G (p.His1150Asp)
c.3481C>G (p.His1161Asp)
3g.38575353G>TCA352138098SCN5Ac.3607C>A (p.His1203Asn)
c.3610C>A (p.His1204Asn)
c.3448C>A (p.His1150Asn)
c.3481C>A (p.His1161Asn)
3g.38575354delCA2665112175SCN5Ac.3606del (p.Glu1202AspfsTer12)
c.3609del (p.Glu1203AspfsTer12)
c.3447del (p.Glu1149AspfsTer12)
c.3480del (p.Glu1160AspfsTer12)
 gnomAD v4
3g.38575354C>ACA352138099SCN5Ac.3606G>T (p.Glu1202Asp)
c.3609G>T (p.Glu1203Asp)
c.3447G>T (p.Glu1149Asp)
c.3480G>T (p.Glu1160Asp)
3g.38575354C=CA1358572544SCN5Ac.3606G= (p.Glu1202=)
c.3609G= (p.Glu1203=)
c.3447G= (p.Glu1149=)
c.3480G= (p.Glu1160=)
3g.38575354C>GCA352138100SCN5Ac.3606G>C (p.Glu1202Asp)
c.3609G>C (p.Glu1203Asp)
c.3447G>C (p.Glu1149Asp)
c.3480G>C (p.Glu1160Asp)
3g.38575354C>TCA433134028SCN5Ac.3606G>A (p.Glu1202=)
c.3609G>A (p.Glu1203=)
c.3447G>A (p.Glu1149=)
c.3480G>A (p.Glu1160=)
 dbSNP
3g.38575355T>ACA352138101SCN5Ac.3605A>T (p.Glu1202Val)
c.3608A>T (p.Glu1203Val)
c.3446A>T (p.Glu1149Val)
c.3479A>T (p.Glu1160Val)
3g.38575355T>CCA352138103SCN5Ac.3605A>G (p.Glu1202Gly)
c.3608A>G (p.Glu1203Gly)
c.3446A>G (p.Glu1149Gly)
c.3479A>G (p.Glu1160Gly)
3g.38575355T>GCA352138102SCN5Ac.3605A>C (p.Glu1202Ala)
c.3608A>C (p.Glu1203Ala)
c.3446A>C (p.Glu1149Ala)
c.3479A>C (p.Glu1160Ala)
 ClinVar dbSNP gnomAD v4
3g.38575356C>ACA352138104SCN5Ac.3604G>T (p.Glu1202Ter)
c.3607G>T (p.Glu1203Ter)
c.3445G>T (p.Glu1149Ter)
c.3478G>T (p.Glu1160Ter)
 dbSNP
3g.38575356C=CA1358572545SCN5Ac.3604G= (p.Glu1202=)
c.3607G= (p.Glu1203=)
c.3445G= (p.Glu1149=)
c.3478G= (p.Glu1160=)
3g.38575356C>GCA352138105SCN5Ac.3604G>C (p.Glu1202Gln)
c.3607G>C (p.Glu1203Gln)
c.3445G>C (p.Glu1149Gln)
c.3478G>C (p.Glu1160Gln)
3g.38575356C>TCA352138106SCN5Ac.3604G>A (p.Glu1202Lys)
c.3607G>A (p.Glu1203Lys)
c.3445G>A (p.Glu1149Lys)
c.3478G>A (p.Glu1160Lys)
3g.38575357C>ACA433134029SCN5Ac.3603G>T (p.Val1201=)
c.3606G>T (p.Val1202=)
c.3444G>T (p.Val1148=)
c.3477G>T (p.Val1159=)
 dbSNP
3g.38575357C>GCA433134030SCN5Ac.3603G>C (p.Val1201=)
c.3606G>C (p.Val1202=)
c.3444G>C (p.Val1148=)
c.3477G>C (p.Val1159=)
3g.38575357C>TCA433134031SCN5Ac.3603G>A (p.Val1201=)
c.3606G>A (p.Val1202=)
c.3444G>A (p.Val1148=)
c.3477G>A (p.Val1159=)
3g.38575358A>CCA352138107SCN5Ac.3602T>G (p.Val1201Gly)
c.3605T>G (p.Val1202Gly)
c.3443T>G (p.Val1148Gly)
c.3476T>G (p.Val1159Gly)
3g.38575358A>GCA352138108SCN5Ac.3602T>C (p.Val1201Ala)
c.3605T>C (p.Val1202Ala)
c.3443T>C (p.Val1148Ala)
c.3476T>C (p.Val1159Ala)
3g.38575358A>TCA352138109SCN5Ac.3602T>A (p.Val1201Glu)
c.3605T>A (p.Val1202Glu)
c.3443T>A (p.Val1148Glu)
c.3476T>A (p.Val1159Glu)
3g.38575359C>ACA352138110SCN5Ac.3601G>T (p.Val1201Leu)
c.3604G>T (p.Val1202Leu)
c.3442G>T (p.Val1148Leu)
c.3475G>T (p.Val1159Leu)
3g.38575359C=CA1358572546SCN5Ac.3601G= (p.Val1201=)
c.3604G= (p.Val1202=)
c.3442G= (p.Val1148=)
c.3475G= (p.Val1159=)
3g.38575359C>GCA352138111SCN5Ac.3601G>C (p.Val1201Leu)
c.3604G>C (p.Val1202Leu)
c.3442G>C (p.Val1148Leu)
c.3475G>C (p.Val1159Leu)
3g.38575359C>TCA72923192SCN5Ac.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
3g.38575360G>ACA062081SCN5Ac.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
3g.38575360G>CCA062076SCN5Ac.3600C>G (p.Ile1200Met)
c.3603C>G (p.Ile1201Met)
c.3441C>G (p.Ile1147Met)
c.3474C>G (p.Ile1158Met)
 dbSNP ExAC gnomAD v2
3g.38575360G=CA1358572547SCN5Ac.3600C= (p.Ile1200=)
c.3603C= (p.Ile1201=)
c.3441C= (p.Ile1147=)
c.3474C= (p.Ile1158=)
3g.38575360G>TCA433134032SCN5Ac.3600C>A (p.Ile1200=)
c.3603C>A (p.Ile1201=)
c.3441C>A (p.Ile1147=)
c.3474C>A (p.Ile1158=)
3g.38575361A>CCA352138114SCN5Ac.3599T>G (p.Ile1200Ser)
c.3602T>G (p.Ile1201Ser)
c.3440T>G (p.Ile1147Ser)
c.3473T>G (p.Ile1158Ser)
3g.38575361A>GCA352138112SCN5Ac.3599T>C (p.Ile1200Thr)
c.3602T>C (p.Ile1201Thr)
c.3440T>C (p.Ile1147Thr)
c.3473T>C (p.Ile1158Thr)
3g.38575361A>TCA352138113SCN5Ac.3599T>A (p.Ile1200Asn)
c.3602T>A (p.Ile1201Asn)
c.3440T>A (p.Ile1147Asn)
c.3473T>A (p.Ile1158Asn)
3g.38575362T>ACA352138115SCN5Ac.3598A>T (p.Ile1200Phe)
c.3601A>T (p.Ile1201Phe)
c.3439A>T (p.Ile1147Phe)
c.3472A>T (p.Ile1158Phe)
 ClinVar dbSNP gnomAD v4
3g.38575362T>CCA352138116SCN5Ac.3598A>G (p.Ile1200Val)
c.3601A>G (p.Ile1201Val)
c.3439A>G (p.Ile1147Val)
c.3472A>G (p.Ile1158Val)
3g.38575362T>GCA352138117SCN5Ac.3598A>C (p.Ile1200Leu)
c.3601A>C (p.Ile1201Leu)
c.3439A>C (p.Ile1147Leu)
c.3472A>C (p.Ile1158Leu)
3g.38575363G>ACA433134033SCN5Ac.3597C>T (p.His1199=)
c.3600C>T (p.His1200=)
c.3438C>T (p.His1146=)
c.3471C>T (p.His1157=)
3g.38575363G>CCA352138118SCN5Ac.3597C>G (p.His1199Gln)
c.3600C>G (p.His1200Gln)
c.3438C>G (p.His1146Gln)
c.3471C>G (p.His1157Gln)
3g.38575363G>TCA352138119SCN5Ac.3597C>A (p.His1199Gln)
c.3600C>A (p.His1200Gln)
c.3438C>A (p.His1146Gln)
c.3471C>A (p.His1157Gln)
3g.38575364T>ACA352138120SCN5Ac.3596A>T (p.His1199Leu)
c.3599A>T (p.His1200Leu)
c.3437A>T (p.His1146Leu)
c.3470A>T (p.His1157Leu)
3g.38575364T>CCA352138121SCN5Ac.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
3g.38575364T>GCA352138122SCN5Ac.3596A>C (p.His1199Pro)
c.3599A>C (p.His1200Pro)
c.3437A>C (p.His1146Pro)
c.3470A>C (p.His1157Pro)
3g.38575364T=CA1358572548SCN5Ac.3596A= (p.His1199=)
c.3599A= (p.His1200=)
c.3437A= (p.His1146=)
c.3470A= (p.His1157=)
3g.38575365G>ACA352138123SCN5Ac.3595C>T (p.His1199Tyr)
c.3598C>T (p.His1200Tyr)
c.3436C>T (p.His1146Tyr)
c.3469C>T (p.His1157Tyr)
 dbSNP gnomAD v2 gnomAD v4
3g.38575365G>CCA352138124SCN5Ac.3595C>G (p.His1199Asp)
c.3598C>G (p.His1200Asp)
c.3436C>G (p.His1146Asp)
c.3469C>G (p.His1157Asp)
3g.38575365G=CA1358572549SCN5Ac.3595C= (p.His1199=)
c.3598C= (p.His1200=)
c.3436C= (p.His1146=)
c.3469C= (p.His1157=)

Number of alleles fetched