Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38566554del | CA2580069778 | SCN5A | c.3693del (p.Lys1232ArgfsTer?) c.3696del (p.Lys1233ArgfsTer?) c.3534del (p.Lys1179ArgfsTer?) c.3567del (p.Lys1190ArgfsTer?) | ClinVar |
3 | g.38566554C>A | CA352149402 | SCN5A | c.3692G>T (p.Arg1231Leu) c.3695G>T (p.Arg1232Leu) c.3533G>T (p.Arg1178Leu) c.3566G>T (p.Arg1189Leu) | |
3 | g.38566554C= | CA1358569768 | SCN5A | c.3692G= (p.Arg1231=) c.3695G= (p.Arg1232=) c.3533G= (p.Arg1178=) c.3566G= (p.Arg1189=) | |
3 | g.38566554C>G | CA352149403 | SCN5A | c.3692G>C (p.Arg1231Pro) c.3695G>C (p.Arg1232Pro) c.3533G>C (p.Arg1178Pro) c.3566G>C (p.Arg1189Pro) | |
3 | g.38566554C>T | CA017422 | SCN5A | c.3692G>A (p.Arg1231Gln) c.3695G>A (p.Arg1232Gln) c.3533G>A (p.Arg1178Gln) c.3566G>A (p.Arg1189Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38566555G>A | CA017416 | SCN5A | c.3691C>T (p.Arg1231Trp) c.3694C>T (p.Arg1232Trp) c.3532C>T (p.Arg1178Trp) c.3565C>T (p.Arg1189Trp) | ClinVar dbSNP gnomAD v4 |
3 | g.38566555G>C | CA352149406 | SCN5A | c.3691C>G (p.Arg1231Gly) c.3694C>G (p.Arg1232Gly) c.3532C>G (p.Arg1178Gly) c.3565C>G (p.Arg1189Gly) | |
3 | g.38566555G= | CA1358569777 | SCN5A | c.3691C= (p.Arg1231=) c.3694C= (p.Arg1232=) c.3532C= (p.Arg1178=) c.3565C= (p.Arg1189=) | |
3 | g.38566555G>T | CA433136933 | SCN5A | c.3691C>A (p.Arg1231=) c.3694C>A (p.Arg1232=) c.3532C>A (p.Arg1178=) c.3565C>A (p.Arg1189=) | COSMIC COSMIC COSMIC |
3 | g.38566556C>A | CA352149407 | SCN5A | c.3690G>T (p.Glu1230Asp) c.3693G>T (p.Glu1231Asp) c.3531G>T (p.Glu1177Asp) c.3564G>T (p.Glu1188Asp) | |
3 | g.38566556C= | CA1358569781 | SCN5A | c.3690G= (p.Glu1230=) c.3693G= (p.Glu1231=) c.3531G= (p.Glu1177=) c.3564G= (p.Glu1188=) | |
3 | g.38566556C>G | CA352149409 | SCN5A | c.3690G>C (p.Glu1230Asp) c.3693G>C (p.Glu1231Asp) c.3531G>C (p.Glu1177Asp) c.3564G>C (p.Glu1188Asp) | |
3 | g.38566556C>T | CA433136934 | SCN5A | c.3690G>A (p.Glu1230=) c.3693G>A (p.Glu1231=) c.3531G>A (p.Glu1177=) c.3564G>A (p.Glu1188=) | dbSNP |
3 | g.38566557T>A | CA352149415 | SCN5A | c.3689A>T (p.Glu1230Val) c.3692A>T (p.Glu1231Val) c.3530A>T (p.Glu1177Val) c.3563A>T (p.Glu1188Val) | |
3 | g.38566557T>C | CA352149411 | SCN5A | c.3689A>G (p.Glu1230Gly) c.3692A>G (p.Glu1231Gly) c.3530A>G (p.Glu1177Gly) c.3563A>G (p.Glu1188Gly) | gnomAD v4 |
3 | g.38566557T>G | CA352149413 | SCN5A | c.3689A>C (p.Glu1230Ala) c.3692A>C (p.Glu1231Ala) c.3530A>C (p.Glu1177Ala) c.3563A>C (p.Glu1188Ala) | ClinVar dbSNP |
3 | g.38566557T= | CA1358569785 | SCN5A | c.3689A= (p.Glu1230=) c.3692A= (p.Glu1231=) c.3530A= (p.Glu1177=) c.3563A= (p.Glu1188=) | |
3 | g.38566558C>A | CA352149417 | SCN5A | c.3688G>T (p.Glu1230Ter) c.3691G>T (p.Glu1231Ter) c.3529G>T (p.Glu1177Ter) c.3562G>T (p.Glu1188Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.38566558C= | CA1358569801 | SCN5A | c.3688G= (p.Glu1230=) c.3691G= (p.Glu1231=) c.3529G= (p.Glu1177=) c.3562G= (p.Glu1188=) | |
3 | g.38566558C>G | CA352149419 | SCN5A | c.3688G>C (p.Glu1230Gln) c.3691G>C (p.Glu1231Gln) c.3529G>C (p.Glu1177Gln) c.3562G>C (p.Glu1188Gln) | ClinVar dbSNP |
3 | g.38566558C>T | CA017410 | SCN5A | c.3688G>A (p.Glu1230Lys) c.3691G>A (p.Glu1231Lys) c.3529G>A (p.Glu1177Lys) c.3562G>A (p.Glu1188Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38566559C>A | CA352149421 | SCN5A | c.3687G>T (p.Glu1229Asp) c.3690G>T (p.Glu1230Asp) c.3528G>T (p.Glu1176Asp) c.3561G>T (p.Glu1187Asp) | |
3 | g.38566559C>G | CA352149422 | SCN5A | c.3687G>C (p.Glu1229Asp) c.3690G>C (p.Glu1230Asp) c.3528G>C (p.Glu1176Asp) c.3561G>C (p.Glu1187Asp) | |
3 | g.38566559C>T | CA433136940 | SCN5A | c.3687G>A (p.Glu1229=) c.3690G>A (p.Glu1230=) c.3528G>A (p.Glu1176=) c.3561G>A (p.Glu1187=) | |
3 | g.38566560T>A | CA352149423 | SCN5A | c.3686A>T (p.Glu1229Val) c.3689A>T (p.Glu1230Val) c.3527A>T (p.Glu1176Val) c.3560A>T (p.Glu1187Val) | |
3 | g.38566560T>C | CA352149425 | SCN5A | c.3686A>G (p.Glu1229Gly) c.3689A>G (p.Glu1230Gly) c.3527A>G (p.Glu1176Gly) c.3560A>G (p.Glu1187Gly) | |
3 | g.38566560T>G | CA352149426 | SCN5A | c.3686A>C (p.Glu1229Ala) c.3689A>C (p.Glu1230Ala) c.3527A>C (p.Glu1176Ala) c.3560A>C (p.Glu1187Ala) | |
3 | g.38566561C>A | CA352149427 | SCN5A | c.3685G>T (p.Glu1229Ter) c.3688G>T (p.Glu1230Ter) c.3526G>T (p.Glu1176Ter) c.3559G>T (p.Glu1187Ter) | dbSNP |
3 | g.38566561C= | CA1358569808 | SCN5A | c.3685G= (p.Glu1229=) c.3688G= (p.Glu1230=) c.3526G= (p.Glu1176=) c.3559G= (p.Glu1187=) | |
3 | g.38566561C>G | CA352149428 | SCN5A | c.3685G>C (p.Glu1229Gln) c.3688G>C (p.Glu1230Gln) c.3526G>C (p.Glu1176Gln) c.3559G>C (p.Glu1187Gln) | |
3 | g.38566561C>T | CA062201 | SCN5A | c.3685G>A (p.Glu1229Lys) c.3688G>A (p.Glu1230Lys) c.3526G>A (p.Glu1176Lys) c.3559G>A (p.Glu1187Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38566562T>A | CA433136946 | SCN5A | c.3684A>T (p.Leu1228=) c.3687A>T (p.Leu1229=) c.3525A>T (p.Leu1175=) c.3558A>T (p.Leu1186=) | |
3 | g.38566562T>C | CA433136947 | SCN5A | c.3684A>G (p.Leu1228=) c.3687A>G (p.Leu1229=) c.3525A>G (p.Leu1175=) c.3558A>G (p.Leu1186=) | ClinVar dbSNP |
3 | g.38566562T>G | CA433136949 | SCN5A | c.3684A>C (p.Leu1228=) c.3687A>C (p.Leu1229=) c.3525A>C (p.Leu1175=) c.3558A>C (p.Leu1186=) | |
3 | g.38566563A>C | CA352149436 | SCN5A | c.3683T>G (p.Leu1228Arg) c.3686T>G (p.Leu1229Arg) c.3524T>G (p.Leu1175Arg) c.3557T>G (p.Leu1186Arg) | |
3 | g.38566563A>G | CA352149433 | SCN5A | c.3683T>C (p.Leu1228Pro) c.3686T>C (p.Leu1229Pro) c.3524T>C (p.Leu1175Pro) c.3557T>C (p.Leu1186Pro) | |
3 | g.38566563A>T | CA352149432 | SCN5A | c.3683T>A (p.Leu1228Gln) c.3686T>A (p.Leu1229Gln) c.3524T>A (p.Leu1175Gln) c.3557T>A (p.Leu1186Gln) | gnomAD v4 |
3 | g.38566564G>A | CA433136950 | SCN5A | c.3682C>T (p.Leu1228=) c.3685C>T (p.Leu1229=) c.3523C>T (p.Leu1175=) c.3556C>T (p.Leu1186=) | ClinVar |
3 | g.38566564G>C | CA352149438 | SCN5A | c.3682C>G (p.Leu1228Val) c.3685C>G (p.Leu1229Val) c.3523C>G (p.Leu1175Val) c.3556C>G (p.Leu1186Val) | |
3 | g.38566564G>T | CA352149439 | SCN5A | c.3682C>A (p.Leu1228Ile) c.3685C>A (p.Leu1229Ile) c.3523C>A (p.Leu1175Ile) c.3556C>A (p.Leu1186Ile) | |
3 | g.38566565G>A | CA433136953 | SCN5A | c.3681C>T (p.Tyr1227=) c.3684C>T (p.Tyr1228=) c.3522C>T (p.Tyr1174=) c.3555C>T (p.Tyr1185=) | |
3 | g.38566565G>C | CA352149443 | SCN5A | c.3681C>G (p.Tyr1227Ter) c.3684C>G (p.Tyr1228Ter) c.3522C>G (p.Tyr1174Ter) c.3555C>G (p.Tyr1185Ter) | ClinVar dbSNP |
3 | g.38566565G= | CA1358569811 | SCN5A | c.3681C= (p.Tyr1227=) c.3684C= (p.Tyr1228=) c.3522C= (p.Tyr1174=) c.3555C= (p.Tyr1185=) | |
3 | g.38566565G>T | CA352149444 | SCN5A | c.3681C>A (p.Tyr1227Ter) c.3684C>A (p.Tyr1228Ter) c.3522C>A (p.Tyr1174Ter) c.3555C>A (p.Tyr1185Ter) | |
3 | g.38566566T>A | CA352149448 | SCN5A | c.3680A>T (p.Tyr1227Phe) c.3683A>T (p.Tyr1228Phe) c.3521A>T (p.Tyr1174Phe) c.3554A>T (p.Tyr1185Phe) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566566T>C | CA062194 | SCN5A | c.3680A>G (p.Tyr1227Cys) c.3683A>G (p.Tyr1228Cys) c.3521A>G (p.Tyr1174Cys) c.3554A>G (p.Tyr1185Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566566T>G | CA352149450 | SCN5A | c.3680A>C (p.Tyr1227Ser) c.3683A>C (p.Tyr1228Ser) c.3521A>C (p.Tyr1174Ser) c.3554A>C (p.Tyr1185Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.38566566T= | CA1358569819 | SCN5A | c.3680A= (p.Tyr1227=) c.3683A= (p.Tyr1228=) c.3521A= (p.Tyr1174=) c.3554A= (p.Tyr1185=) | |
3 | g.38566567A= | CA1358569827 | SCN5A | c.3679T= (p.Tyr1227=) c.3682T= (p.Tyr1228=) c.3520T= (p.Tyr1174=) c.3553T= (p.Tyr1185=) | |
3 | g.38566567A>C | CA352149452 | SCN5A | c.3679T>G (p.Tyr1227Asp) c.3682T>G (p.Tyr1228Asp) c.3520T>G (p.Tyr1174Asp) c.3553T>G (p.Tyr1185Asp) |