UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38560191T>A | CA352146367 | SCN5A | c.4198A>T (p.Asn1400Tyr) c.4201A>T (p.Asn1401Tyr) c.4039A>T (p.Asn1347Tyr) c.4072A>T (p.Asn1358Tyr) | |
| 3 | g.38560191T>C | CA352146374 | SCN5A | c.4198A>G (p.Asn1400Asp) c.4201A>G (p.Asn1401Asp) c.4039A>G (p.Asn1347Asp) c.4072A>G (p.Asn1358Asp) | |
| 3 | g.38560191T>G | CA352146382 | SCN5A | c.4198A>C (p.Asn1400His) c.4201A>C (p.Asn1401His) c.4039A>C (p.Asn1347His) c.4072A>C (p.Asn1358His) | |
| 3 | g.38560192G>A | CA433332312 | SCN5A | c.4197C>T (p.Val1399=) c.4200C>T (p.Val1400=) c.4038C>T (p.Val1346=) c.4071C>T (p.Val1357=) | |
| 3 | g.38560192G>C | CA433332313 | SCN5A | c.4197C>G (p.Val1399=) c.4200C>G (p.Val1400=) c.4038C>G (p.Val1346=) c.4071C>G (p.Val1357=) | |
| 3 | g.38560192G>T | CA433332315 | SCN5A | c.4197C>A (p.Val1399=) c.4200C>A (p.Val1400=) c.4038C>A (p.Val1346=) c.4071C>A (p.Val1357=) | |
| 3 | g.38560193A= | CA1358565661 | SCN5A | c.4196T= (p.Val1399=) c.4199T= (p.Val1400=) c.4037T= (p.Val1346=) c.4070T= (p.Val1357=) | |
| 3 | g.38560193A>C | CA352146387 | SCN5A | c.4196T>G (p.Val1399Gly) c.4199T>G (p.Val1400Gly) c.4037T>G (p.Val1346Gly) c.4070T>G (p.Val1357Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38560193A>G | CA352146392 | SCN5A | c.4196T>C (p.Val1399Ala) c.4199T>C (p.Val1400Ala) c.4037T>C (p.Val1346Ala) c.4070T>C (p.Val1357Ala) | |
| 3 | g.38560193A>T | CA352146396 | SCN5A | c.4196T>A (p.Val1399Asp) c.4199T>A (p.Val1400Asp) c.4037T>A (p.Val1346Asp) c.4070T>A (p.Val1357Asp) | |
| 3 | g.38560194C>A | CA352146399 | SCN5A | c.4195G>T (p.Val1399Phe) c.4198G>T (p.Val1400Phe) c.4036G>T (p.Val1346Phe) c.4069G>T (p.Val1357Phe) | |
| 3 | g.38560194C= | CA1358565662 | SCN5A | c.4195G= (p.Val1399=) c.4198G= (p.Val1400=) c.4036G= (p.Val1346=) c.4069G= (p.Val1357=) | |
| 3 | g.38560194C>G | CA352146405 | SCN5A | c.4195G>C (p.Val1399Leu) c.4198G>C (p.Val1400Leu) c.4036G>C (p.Val1346Leu) c.4069G>C (p.Val1357Leu) | |
| 3 | g.38560194C>T | CA352146402 | SCN5A | c.4195G>A (p.Val1399Ile) c.4198G>A (p.Val1400Ile) c.4036G>A (p.Val1346Ile) c.4069G>A (p.Val1357Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38560195T>A | CA352146410 | SCN5A | c.4194A>T (p.Lys1398Asn) c.4197A>T (p.Lys1399Asn) c.4035A>T (p.Lys1345Asn) c.4068A>T (p.Lys1356Asn) | |
| 3 | g.38560195T>C | CA433332320 | SCN5A | c.4194A>G (p.Lys1398=) c.4197A>G (p.Lys1399=) c.4035A>G (p.Lys1345=) c.4068A>G (p.Lys1356=) | |
| 3 | g.38560195T>G | CA352146414 | SCN5A | c.4194A>C (p.Lys1398Asn) c.4197A>C (p.Lys1399Asn) c.4035A>C (p.Lys1345Asn) c.4068A>C (p.Lys1356Asn) | |
| 3 | g.38560196T>A | CA352146416 | SCN5A | c.4193A>T (p.Lys1398Ile) c.4196A>T (p.Lys1399Ile) c.4034A>T (p.Lys1345Ile) c.4067A>T (p.Lys1356Ile) | |
| 3 | g.38560196T>C | CA352146418 | SCN5A | c.4193A>G (p.Lys1398Arg) c.4196A>G (p.Lys1399Arg) c.4034A>G (p.Lys1345Arg) c.4067A>G (p.Lys1356Arg) | |
| 3 | g.38560196T>G | CA352146420 | SCN5A | c.4193A>C (p.Lys1398Thr) c.4196A>C (p.Lys1399Thr) c.4034A>C (p.Lys1345Thr) c.4067A>C (p.Lys1356Thr) | |
| 3 | g.38560197T>A | CA352146424 | SCN5A | c.4192A>T (p.Lys1398Ter) c.4195A>T (p.Lys1399Ter) c.4033A>T (p.Lys1345Ter) c.4066A>T (p.Lys1356Ter) | dbSNP |
| 3 | g.38560197T>C | CA352146427 | SCN5A | c.4192A>G (p.Lys1398Glu) c.4195A>G (p.Lys1399Glu) c.4033A>G (p.Lys1345Glu) c.4066A>G (p.Lys1356Glu) | |
| 3 | g.38560197T>G | CA352146428 | SCN5A | c.4192A>C (p.Lys1398Gln) c.4195A>C (p.Lys1399Gln) c.4033A>C (p.Lys1345Gln) c.4066A>C (p.Lys1356Gln) | |
| 3 | g.38560197T= | CA1358565664 | SCN5A | c.4192A= (p.Lys1398=) c.4195A= (p.Lys1399=) c.4033A= (p.Lys1345=) c.4066A= (p.Lys1356=) | |
| 3 | g.38560197_38560198delinsTC | CA1358565663 | SCN5A | c.4191_4192delinsGA (p.Val1397=) c.4194_4195delinsGA (p.Val1398=) c.4032_4033delinsGA (p.Val1344=) c.4065_4066delinsGA (p.Val1355=) | |
| 3 | g.38560198del | CA16617947 | SCN5A | c.4191del (p.Val1399SerfsTer?) c.4194del (p.Val1400SerfsTer?) c.4032del (p.Val1346SerfsTer?) c.4065del (p.Val1357SerfsTer?) | ClinVar dbSNP |
| 3 | g.38560198C>A | CA433332325 | SCN5A | c.4191G>T (p.Val1397=) c.4194G>T (p.Val1398=) c.4032G>T (p.Val1344=) c.4065G>T (p.Val1355=) | |
| 3 | g.38560198C= | CA1358565665 | SCN5A | c.4191G= (p.Val1397=) c.4194G= (p.Val1398=) c.4032G= (p.Val1344=) c.4065G= (p.Val1355=) | |
| 3 | g.38560198C>G | CA062920 | SCN5A | c.4191G>C (p.Val1397=) c.4194G>C (p.Val1398=) c.4032G>C (p.Val1344=) c.4065G>C (p.Val1355=) | dbSNP ExAC gnomAD v2 |
| 3 | g.38560198C>T | CA433332324 | SCN5A | c.4191G>A (p.Val1397=) c.4194G>A (p.Val1398=) c.4032G>A (p.Val1344=) c.4065G>A (p.Val1355=) | ClinVar dbSNP |
| 3 | g.38560199A>C | CA352146434 | SCN5A | c.4190T>G (p.Val1397Gly) c.4193T>G (p.Val1398Gly) c.4031T>G (p.Val1344Gly) c.4064T>G (p.Val1355Gly) | |
| 3 | g.38560199A>G | CA352146439 | SCN5A | c.4190T>C (p.Val1397Ala) c.4193T>C (p.Val1398Ala) c.4031T>C (p.Val1344Ala) c.4064T>C (p.Val1355Ala) | |
| 3 | g.38560199A>T | CA352146441 | SCN5A | c.4190T>A (p.Val1397Glu) c.4193T>A (p.Val1398Glu) c.4031T>A (p.Val1344Glu) c.4064T>A (p.Val1355Glu) | gnomAD v4 |
| 3 | g.38560200C>A | CA352146449 | SCN5A | c.4189G>T (p.Val1397Leu) c.4192G>T (p.Val1398Leu) c.4030G>T (p.Val1344Leu) c.4063G>T (p.Val1355Leu) | |
| 3 | g.38560200C= | CA1358565666 | SCN5A | c.4189G= (p.Val1397=) c.4192G= (p.Val1398=) c.4030G= (p.Val1344=) c.4063G= (p.Val1355=) | |
| 3 | g.38560200C>G | CA352146446 | SCN5A | c.4189G>C (p.Val1397Leu) c.4192G>C (p.Val1398Leu) c.4030G>C (p.Val1344Leu) c.4063G>C (p.Val1355Leu) | |
| 3 | g.38560200C>T | CA352146443 | SCN5A | c.4189G>A (p.Val1397Met) c.4192G>A (p.Val1398Met) c.4030G>A (p.Val1344Met) c.4063G>A (p.Val1355Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38560201C>A | CA352146452 | SCN5A | c.4188G>T (p.Lys1396Asn) c.4191G>T (p.Lys1397Asn) c.4029G>T (p.Lys1343Asn) c.4062G>T (p.Lys1354Asn) | COSMIC COSMIC COSMIC |
| 3 | g.38560201C>G | CA352146454 | SCN5A | c.4188G>C (p.Lys1396Asn) c.4191G>C (p.Lys1397Asn) c.4029G>C (p.Lys1343Asn) c.4062G>C (p.Lys1354Asn) | gnomAD v4 |
| 3 | g.38560201C>T | CA433332333 | SCN5A | c.4188G>A (p.Lys1396=) c.4191G>A (p.Lys1397=) c.4029G>A (p.Lys1343=) c.4062G>A (p.Lys1354=) | ClinVar dbSNP |
| 3 | g.38560201_38560202delinsCT | CA1358565667 | SCN5A | c.4187_4188delinsAG (p.Lys1396=) c.4190_4191delinsAG (p.Lys1397=) c.4028_4029delinsAG (p.Lys1343=) c.4061_4062delinsAG (p.Lys1354=) | |
| 3 | g.38560202T>A | CA352146458 | SCN5A | c.4187A>T (p.Lys1396Met) c.4190A>T (p.Lys1397Met) c.4028A>T (p.Lys1343Met) c.4061A>T (p.Lys1354Met) | |
| 3 | g.38560202T>C | CA352146460 | SCN5A | c.4187A>G (p.Lys1396Arg) c.4190A>G (p.Lys1397Arg) c.4028A>G (p.Lys1343Arg) c.4061A>G (p.Lys1354Arg) | gnomAD v4 |
| 3 | g.38560202T>G | CA352146463 | SCN5A | c.4187A>C (p.Lys1396Thr) c.4190A>C (p.Lys1397Thr) c.4028A>C (p.Lys1343Thr) c.4061A>C (p.Lys1354Thr) | |
| 3 | g.38560203del | CA017930 | SCN5A | c.4187del (p.Lys1396ArgfsTer2) c.4190del (p.Lys1397ArgfsTer2) c.4028del (p.Lys1343ArgfsTer2) c.4061del (p.Lys1354ArgfsTer2) | ClinVar dbSNP |
| 3 | g.38560203T>A | CA352146474 | SCN5A | c.4186A>T (p.Lys1396Ter) c.4189A>T (p.Lys1397Ter) c.4027A>T (p.Lys1343Ter) c.4060A>T (p.Lys1354Ter) | dbSNP |
| 3 | g.38560203T>C | CA352146471 | SCN5A | c.4186A>G (p.Lys1396Glu) c.4189A>G (p.Lys1397Glu) c.4027A>G (p.Lys1343Glu) c.4060A>G (p.Lys1354Glu) | |
| 3 | g.38560203T>G | CA352146469 | SCN5A | c.4186A>C (p.Lys1396Gln) c.4189A>C (p.Lys1397Gln) c.4027A>C (p.Lys1343Gln) c.4060A>C (p.Lys1354Gln) | |
| 3 | g.38560203T= | CA1358565668 | SCN5A | c.4186A= (p.Lys1396=) c.4189A= (p.Lys1397=) c.4027A= (p.Lys1343=) c.4060A= (p.Lys1354=) | |
| 3 | g.38560204G>A | CA433332335 | SCN5A | c.4185C>T (p.Thr1395=) c.4188C>T (p.Thr1396=) c.4026C>T (p.Thr1342=) c.4059C>T (p.Thr1353=) | gnomAD v4 |
| 3 | g.38560204G>C | CA433332338 | SCN5A | c.4185C>G (p.Thr1395=) c.4188C>G (p.Thr1396=) c.4026C>G (p.Thr1342=) c.4059C>G (p.Thr1353=) | |
| 3 | g.38560204G>T | CA433332337 | SCN5A | c.4185C>A (p.Thr1395=) c.4188C>A (p.Thr1396=) c.4026C>A (p.Thr1342=) c.4059C>A (p.Thr1353=) | |
| 3 | g.38560205G>A | CA352146475 | SCN5A | c.4184C>T (p.Thr1395Ile) c.4187C>T (p.Thr1396Ile) c.4025C>T (p.Thr1342Ile) c.4058C>T (p.Thr1353Ile) | |
| 3 | g.38560205G>C | CA352146476 | SCN5A | c.4184C>G (p.Thr1395Ser) c.4187C>G (p.Thr1396Ser) c.4025C>G (p.Thr1342Ser) c.4058C>G (p.Thr1353Ser) | ClinVar |
| 3 | g.38560205G>T | CA352146477 | SCN5A | c.4184C>A (p.Thr1395Asn) c.4187C>A (p.Thr1396Asn) c.4025C>A (p.Thr1342Asn) c.4058C>A (p.Thr1353Asn) | |
| 3 | g.38560206del | CA645530249 | SCN5A | c.4183del (p.Thr1395ProfsTer3) c.4186del (p.Thr1396ProfsTer3) c.4024del (p.Thr1342ProfsTer3) c.4057del (p.Thr1353ProfsTer3) | COSMIC COSMIC COSMIC |
| 3 | g.38560206T>A | CA352146478 | SCN5A | c.4183A>T (p.Thr1395Ser) c.4186A>T (p.Thr1396Ser) c.4024A>T (p.Thr1342Ser) c.4057A>T (p.Thr1353Ser) | |
| 3 | g.38560206T>C | CA352146479 | SCN5A | c.4183A>G (p.Thr1395Ala) c.4186A>G (p.Thr1396Ala) c.4024A>G (p.Thr1342Ala) c.4057A>G (p.Thr1353Ala) | |
| 3 | g.38560206T>G | CA352146480 | SCN5A | c.4183A>C (p.Thr1395Pro) c.4186A>C (p.Thr1396Pro) c.4024A>C (p.Thr1342Pro) c.4057A>C (p.Thr1353Pro) | |
| 3 | g.38560207C>A | CA352146482 | SCN5A | c.4182G>T (p.Trp1394Cys) c.4185G>T (p.Trp1395Cys) c.4023G>T (p.Trp1341Cys) c.4056G>T (p.Trp1352Cys) | |
| 3 | g.38560207C= | CA1358565669 | SCN5A | c.4182G= (p.Trp1394=) c.4185G= (p.Trp1395=) c.4023G= (p.Trp1341=) c.4056G= (p.Trp1352=) | |
| 3 | g.38560207C>G | CA352146487 | SCN5A | c.4182G>C (p.Trp1394Cys) c.4185G>C (p.Trp1395Cys) c.4023G>C (p.Trp1341Cys) c.4056G>C (p.Trp1352Cys) | |
| 3 | g.38560207C>T | CA352146484 | SCN5A | c.4182G>A (p.Trp1394Ter) c.4185G>A (p.Trp1395Ter) c.4023G>A (p.Trp1341Ter) c.4056G>A (p.Trp1352Ter) | dbSNP |
| 3 | g.38560208C>A | CA352146490 | SCN5A | c.4181G>T (p.Trp1394Leu) c.4184G>T (p.Trp1395Leu) c.4022G>T (p.Trp1341Leu) c.4055G>T (p.Trp1352Leu) | |
| 3 | g.38560208C>G | CA352146493 | SCN5A | c.4181G>C (p.Trp1394Ser) c.4184G>C (p.Trp1395Ser) c.4022G>C (p.Trp1341Ser) c.4055G>C (p.Trp1352Ser) | |
| 3 | g.38560208C>T | CA352146494 | SCN5A | c.4181G>A (p.Trp1394Ter) c.4184G>A (p.Trp1395Ter) c.4022G>A (p.Trp1341Ter) c.4055G>A (p.Trp1352Ter) | ClinVar |
| 3 | g.38560209A= | CA1358565670 | SCN5A | c.4180T= (p.Trp1394=) c.4183T= (p.Trp1395=) c.4021T= (p.Trp1341=) c.4054T= (p.Trp1352=) | |
| 3 | g.38560209A>C | CA352146495 | SCN5A | c.4180T>G (p.Trp1394Gly) c.4183T>G (p.Trp1395Gly) c.4021T>G (p.Trp1341Gly) c.4054T>G (p.Trp1352Gly) | |
| 3 | g.38560209A>G | CA352146496 | SCN5A | c.4180T>C (p.Trp1394Arg) c.4183T>C (p.Trp1395Arg) c.4021T>C (p.Trp1341Arg) c.4054T>C (p.Trp1352Arg) | ClinVar dbSNP |
| 3 | g.38560209A>T | CA352146499 | SCN5A | c.4180T>A (p.Trp1394Arg) c.4183T>A (p.Trp1395Arg) c.4021T>A (p.Trp1341Arg) c.4054T>A (p.Trp1352Arg) | |
| 3 | g.38560209_38560210delinsAG | CA1358565671 | SCN5A | c.4179_4180delinsCT (p.Tyr1393=) c.4182_4183delinsCT (p.Tyr1394=) c.4020_4021delinsCT (p.Tyr1340=) c.4053_4054delinsCT (p.Tyr1351=) | |
| 3 | g.38560210del | CA916079916 | SCN5A | c.4179del (p.Trp1394GlyfsTer4) c.4182del (p.Trp1395GlyfsTer4) c.4020del (p.Trp1341GlyfsTer4) c.4053del (p.Trp1352GlyfsTer4) | ClinVar dbSNP |
| 3 | g.38560210G>A | CA433332343 | SCN5A | c.4179C>T (p.Tyr1393=) c.4182C>T (p.Tyr1394=) c.4020C>T (p.Tyr1340=) c.4053C>T (p.Tyr1351=) | ClinVar |
| 3 | g.38560210G>C | CA338535 | SCN5A | c.4179C>G (p.Tyr1393Ter) c.4182C>G (p.Tyr1394Ter) c.4020C>G (p.Tyr1340Ter) c.4053C>G (p.Tyr1351Ter) | ClinVar dbSNP |
| 3 | g.38560210G= | CA1358565672 | SCN5A | c.4179C= (p.Tyr1393=) c.4182C= (p.Tyr1394=) c.4020C= (p.Tyr1340=) c.4053C= (p.Tyr1351=) | |
| 3 | g.38560210G>T | CA352146501 | SCN5A | c.4179C>A (p.Tyr1393Ter) c.4182C>A (p.Tyr1394Ter) c.4020C>A (p.Tyr1340Ter) c.4053C>A (p.Tyr1351Ter) | |
| 3 | g.38560211T>A | CA352146503 | SCN5A | c.4178A>T (p.Tyr1393Phe) c.4181A>T (p.Tyr1394Phe) c.4019A>T (p.Tyr1340Phe) c.4052A>T (p.Tyr1351Phe) | dbSNP |
| 3 | g.38560211T>C | CA352146506 | SCN5A | c.4178A>G (p.Tyr1393Cys) c.4181A>G (p.Tyr1394Cys) c.4019A>G (p.Tyr1340Cys) c.4052A>G (p.Tyr1351Cys) | ClinVar dbSNP |
| 3 | g.38560211T>G | CA352146510 | SCN5A | c.4178A>C (p.Tyr1393Ser) c.4181A>C (p.Tyr1394Ser) c.4019A>C (p.Tyr1340Ser) c.4052A>C (p.Tyr1351Ser) | |
| 3 | g.38560211T= | CA1358565673 | SCN5A | c.4178A= (p.Tyr1393=) c.4181A= (p.Tyr1394=) c.4019A= (p.Tyr1340=) c.4052A= (p.Tyr1351=) | |
| 3 | g.38560212A>C | CA352146519 | SCN5A | c.4177T>G (p.Tyr1393Asp) c.4180T>G (p.Tyr1394Asp) c.4018T>G (p.Tyr1340Asp) c.4051T>G (p.Tyr1351Asp) | |
| 3 | g.38560212A>G | CA352146513 | SCN5A | c.4177T>C (p.Tyr1393His) c.4180T>C (p.Tyr1394His) c.4018T>C (p.Tyr1340His) c.4051T>C (p.Tyr1351His) | |
| 3 | g.38560212A>T | CA352146516 | SCN5A | c.4177T>A (p.Tyr1393Asn) c.4180T>A (p.Tyr1394Asn) c.4018T>A (p.Tyr1340Asn) c.4051T>A (p.Tyr1351Asn) | |
| 3 | g.38560213C>A | CA352146521 | SCN5A | c.4176G>T (p.Leu1392Phe) c.4179G>T (p.Leu1393Phe) c.4017G>T (p.Leu1339Phe) c.4050G>T (p.Leu1350Phe) | |
| 3 | g.38560213C= | CA1358565674 | SCN5A | c.4176G= (p.Leu1392=) c.4179G= (p.Leu1393=) c.4017G= (p.Leu1339=) c.4050G= (p.Leu1350=) | |
| 3 | g.38560213C>G | CA352146523 | SCN5A | c.4176G>C (p.Leu1392Phe) c.4179G>C (p.Leu1393Phe) c.4017G>C (p.Leu1339Phe) c.4050G>C (p.Leu1350Phe) | |
| 3 | g.38560213C>T | CA72944748 | SCN5A | c.4176G>A (p.Leu1392=) c.4179G>A (p.Leu1393=) c.4017G>A (p.Leu1339=) c.4050G>A (p.Leu1350=) | dbSNP gnomAD v4 |
| 3 | g.38560214A= | CA1358565675 | SCN5A | c.4175T= (p.Leu1392=) c.4178T= (p.Leu1393=) c.4016T= (p.Leu1339=) c.4049T= (p.Leu1350=) | |
| 3 | g.38560214A>C | CA352146527 | SCN5A | c.4175T>G (p.Leu1392Trp) c.4178T>G (p.Leu1393Trp) c.4016T>G (p.Leu1339Trp) c.4049T>G (p.Leu1350Trp) | |
| 3 | g.38560214A>G | CA352146530 | SCN5A | c.4175T>C (p.Leu1392Ser) c.4178T>C (p.Leu1393Ser) c.4016T>C (p.Leu1339Ser) c.4049T>C (p.Leu1350Ser) | |
| 3 | g.38560214A>T | CA352146533 | SCN5A | c.4175T>A (p.Leu1392Ter) c.4178T>A (p.Leu1393Ter) c.4016T>A (p.Leu1339Ter) c.4049T>A (p.Leu1350Ter) | dbSNP |
| 3 | g.38560215A= | CA1358565676 | SCN5A | c.4174T= (p.Leu1392=) c.4177T= (p.Leu1393=) c.4015T= (p.Leu1339=) c.4048T= (p.Leu1350=) | |
| 3 | g.38560215A>C | CA352146540 | SCN5A | c.4174T>G (p.Leu1392Val) c.4177T>G (p.Leu1393Val) c.4015T>G (p.Leu1339Val) c.4048T>G (p.Leu1350Val) | |
| 3 | g.38560215A>G | CA062913 | SCN5A | c.4174T>C (p.Leu1392=) c.4177T>C (p.Leu1393=) c.4015T>C (p.Leu1339=) c.4048T>C (p.Leu1350=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560215A>T | CA352146538 | SCN5A | c.4174T>A (p.Leu1392Met) c.4177T>A (p.Leu1393Met) c.4015T>A (p.Leu1339Met) c.4048T>A (p.Leu1350Met) | |
| 3 | g.38560216T>A | CA352146543 | SCN5A | c.4173A>T (p.Glu1391Asp) c.4176A>T (p.Glu1392Asp) c.4014A>T (p.Glu1338Asp) c.4047A>T (p.Glu1349Asp) | |
| 3 | g.38560216T>C | CA433332346 | SCN5A | c.4173A>G (p.Glu1391=) c.4176A>G (p.Glu1392=) c.4014A>G (p.Glu1338=) c.4047A>G (p.Glu1349=) | |
| 3 | g.38560216T>G | CA352146544 | SCN5A | c.4173A>C (p.Glu1391Asp) c.4176A>C (p.Glu1392Asp) c.4014A>C (p.Glu1338Asp) c.4047A>C (p.Glu1349Asp) | |
| 3 | g.38560217T>A | CA352146547 | SCN5A | c.4172A>T (p.Glu1391Val) c.4175A>T (p.Glu1392Val) c.4013A>T (p.Glu1338Val) c.4046A>T (p.Glu1349Val) | |
| 3 | g.38560217T>C | CA352146548 | SCN5A | c.4172A>G (p.Glu1391Gly) c.4175A>G (p.Glu1392Gly) c.4013A>G (p.Glu1338Gly) c.4046A>G (p.Glu1349Gly) | ClinVar dbSNP |
| 3 | g.38560217T>G | CA352146550 | SCN5A | c.4172A>C (p.Glu1391Ala) c.4175A>C (p.Glu1392Ala) c.4013A>C (p.Glu1338Ala) c.4046A>C (p.Glu1349Ala) | |
| 3 | g.38560217T= | CA1358565677 | SCN5A | c.4172A= (p.Glu1391=) c.4175A= (p.Glu1392=) c.4013A= (p.Glu1338=) c.4046A= (p.Glu1349=) | |
| 3 | g.38560218C>A | CA352146552 | SCN5A | c.4171G>T (p.Glu1391Ter) c.4174G>T (p.Glu1392Ter) c.4012G>T (p.Glu1338Ter) c.4045G>T (p.Glu1349Ter) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38560218C= | CA1358565678 | SCN5A | c.4171G= (p.Glu1391=) c.4174G= (p.Glu1392=) c.4012G= (p.Glu1338=) c.4045G= (p.Glu1349=) | |
| 3 | g.38560218C>G | CA352146555 | SCN5A | c.4171G>C (p.Glu1391Gln) c.4174G>C (p.Glu1392Gln) c.4012G>C (p.Glu1338Gln) c.4045G>C (p.Glu1349Gln) | |
| 3 | g.38560218C>T | CA352146554 | SCN5A | c.4171G>A (p.Glu1391Lys) c.4174G>A (p.Glu1392Lys) c.4012G>A (p.Glu1338Lys) c.4045G>A (p.Glu1349Lys) | ClinVar gnomAD v4 |
| 3 | g.38560219T>A | CA433332348 | SCN5A | c.4170A>T (p.Gly1390=) c.4173A>T (p.Gly1391=) c.4011A>T (p.Gly1337=) c.4044A>T (p.Gly1348=) | |
| 3 | g.38560219T>C | CA433332349 | SCN5A | c.4170A>G (p.Gly1390=) c.4173A>G (p.Gly1391=) c.4011A>G (p.Gly1337=) c.4044A>G (p.Gly1348=) | |
| 3 | g.38560219T>G | CA433332350 | SCN5A | c.4170A>C (p.Gly1390=) c.4173A>C (p.Gly1391=) c.4011A>C (p.Gly1337=) c.4044A>C (p.Gly1348=) | |
| 3 | g.38560220C>A | CA352146559 | SCN5A | c.4169G>T (p.Gly1390Val) c.4172G>T (p.Gly1391Val) c.4010G>T (p.Gly1337Val) c.4043G>T (p.Gly1348Val) | ClinVar dbSNP |
| 3 | g.38560220C>G | CA352146562 | SCN5A | c.4169G>C (p.Gly1390Ala) c.4172G>C (p.Gly1391Ala) c.4010G>C (p.Gly1337Ala) c.4043G>C (p.Gly1348Ala) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38560220C>T | CA352146565 | SCN5A | c.4169G>A (p.Gly1390Glu) c.4172G>A (p.Gly1391Glu) c.4010G>A (p.Gly1337Glu) c.4043G>A (p.Gly1348Glu) | COSMIC COSMIC COSMIC |
| 3 | g.38560220_38560221insT | CA2586965768 | SCN5A | c.4168_4169insA (p.Gly1390GlufsTer13) c.4171_4172insA (p.Gly1391GlufsTer13) c.4009_4010insA (p.Gly1337GlufsTer13) c.4042_4043insA (p.Gly1348GlufsTer13) | |
| 3 | g.38560221C>A | CA352146571 | SCN5A | c.4168G>T (p.Gly1390Ter) c.4171G>T (p.Gly1391Ter) c.4009G>T (p.Gly1337Ter) c.4042G>T (p.Gly1348Ter) | dbSNP |
| 3 | g.38560221C= | CA1358565679 | SCN5A | c.4168G= (p.Gly1390=) c.4171G= (p.Gly1391=) c.4009G= (p.Gly1337=) c.4042G= (p.Gly1348=) | |
| 3 | g.38560221C>G | CA352146574 | SCN5A | c.4168G>C (p.Gly1390Arg) c.4171G>C (p.Gly1391Arg) c.4009G>C (p.Gly1337Arg) c.4042G>C (p.Gly1348Arg) | |
| 3 | g.38560221C>T | CA017925 | SCN5A | c.4168G>A (p.Gly1390Arg) c.4171G>A (p.Gly1391Arg) c.4009G>A (p.Gly1337Arg) c.4042G>A (p.Gly1348Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38560222G>A | CA062902 | SCN5A | c.4167C>T (p.Thr1389=) c.4170C>T (p.Thr1390=) c.4008C>T (p.Thr1336=) c.4041C>T (p.Thr1347=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560222G>C | CA433332353 | SCN5A | c.4167C>G (p.Thr1389=) c.4170C>G (p.Thr1390=) c.4008C>G (p.Thr1336=) c.4041C>G (p.Thr1347=) | |
| 3 | g.38560222G= | CA1358565680 | SCN5A | c.4167C= (p.Thr1389=) c.4170C= (p.Thr1390=) c.4008C= (p.Thr1336=) c.4041C= (p.Thr1347=) | |
| 3 | g.38560222G>T | CA062897 | SCN5A | c.4167C>A (p.Thr1389=) c.4170C>A (p.Thr1390=) c.4008C>A (p.Thr1336=) c.4041C>A (p.Thr1347=) | dbSNP ExAC |
| 3 | g.38560223G>A | CA352146585 | SCN5A | c.4166C>T (p.Thr1389Ile) c.4169C>T (p.Thr1390Ile) c.4007C>T (p.Thr1336Ile) c.4040C>T (p.Thr1347Ile) | |
| 3 | g.38560223G>C | CA352146586 | SCN5A | c.4166C>G (p.Thr1389Ser) c.4169C>G (p.Thr1390Ser) c.4007C>G (p.Thr1336Ser) c.4040C>G (p.Thr1347Ser) | |
| 3 | g.38560223G>T | CA352146589 | SCN5A | c.4166C>A (p.Thr1389Asn) c.4169C>A (p.Thr1390Asn) c.4007C>A (p.Thr1336Asn) c.4040C>A (p.Thr1347Asn) | |
| 3 | g.38560224T>A | CA352146592 | SCN5A | c.4165A>T (p.Thr1389Ser) c.4168A>T (p.Thr1390Ser) c.4006A>T (p.Thr1336Ser) c.4039A>T (p.Thr1347Ser) | |
| 3 | g.38560224T>C | CA352146596 | SCN5A | c.4165A>G (p.Thr1389Ala) c.4168A>G (p.Thr1390Ala) c.4006A>G (p.Thr1336Ala) c.4039A>G (p.Thr1347Ala) | ClinVar dbSNP |
| 3 | g.38560224T>G | CA352146594 | SCN5A | c.4165A>C (p.Thr1389Pro) c.4168A>C (p.Thr1390Pro) c.4006A>C (p.Thr1336Pro) c.4039A>C (p.Thr1347Pro) | |
| 3 | g.38560224T= | CA1358565681 | SCN5A | c.4165A= (p.Thr1389=) c.4168A= (p.Thr1390=) c.4006A= (p.Thr1336=) c.4039A= (p.Thr1347=) | |
| 3 | g.38560225C>A | CA352146599 | SCN5A | c.4164G>T (p.Leu1388Phe) c.4167G>T (p.Leu1389Phe) c.4005G>T (p.Leu1335Phe) c.4038G>T (p.Leu1346Phe) | |
| 3 | g.38560225C>G | CA352146602 | SCN5A | c.4164G>C (p.Leu1388Phe) c.4167G>C (p.Leu1389Phe) c.4005G>C (p.Leu1335Phe) c.4038G>C (p.Leu1346Phe) | gnomAD v4 |
| 3 | g.38560225C>T | CA433332355 | SCN5A | c.4164G>A (p.Leu1388=) c.4167G>A (p.Leu1389=) c.4005G>A (p.Leu1335=) c.4038G>A (p.Leu1346=) | |
| 3 | g.38560226A= | CA1358565682 | SCN5A | c.4163T= (p.Leu1388=) c.4166T= (p.Leu1389=) c.4004T= (p.Leu1335=) c.4037T= (p.Leu1346=) | |
| 3 | g.38560226A>C | CA352146604 | SCN5A | c.4163T>G (p.Leu1388Trp) c.4166T>G (p.Leu1389Trp) c.4004T>G (p.Leu1335Trp) c.4037T>G (p.Leu1346Trp) | gnomAD v4 |
| 3 | g.38560226A>G | CA352146605 | SCN5A | c.4163T>C (p.Leu1388Ser) c.4166T>C (p.Leu1389Ser) c.4004T>C (p.Leu1335Ser) c.4037T>C (p.Leu1346Ser) | |
| 3 | g.38560226A>T | CA352146607 | SCN5A | c.4163T>A (p.Leu1388Ter) c.4166T>A (p.Leu1389Ter) c.4004T>A (p.Leu1335Ter) c.4037T>A (p.Leu1346Ter) | dbSNP |
| 3 | g.38560227A>C | CA352146609 | SCN5A | c.4162T>G (p.Leu1388Val) c.4165T>G (p.Leu1389Val) c.4003T>G (p.Leu1335Val) c.4036T>G (p.Leu1346Val) | |
| 3 | g.38560227A>G | CA433332357 | SCN5A | c.4162T>C (p.Leu1388=) c.4165T>C (p.Leu1389=) c.4003T>C (p.Leu1335=) c.4036T>C (p.Leu1346=) | |
| 3 | g.38560227A>T | CA352146611 | SCN5A | c.4162T>A (p.Leu1388Met) c.4165T>A (p.Leu1389Met) c.4003T>A (p.Leu1335Met) c.4036T>A (p.Leu1346Met) | dbSNP |
| 3 | g.38560228G>A | CA433332358 | SCN5A | c.4161C>T (p.Asn1387=) c.4164C>T (p.Asn1388=) c.4002C>T (p.Asn1334=) c.4035C>T (p.Asn1345=) | gnomAD v4 |
| 3 | g.38560228G>C | CA352146613 | SCN5A | c.4161C>G (p.Asn1387Lys) c.4164C>G (p.Asn1388Lys) c.4002C>G (p.Asn1334Lys) c.4035C>G (p.Asn1345Lys) | |
| 3 | g.38560228G>T | CA352146615 | SCN5A | c.4161C>A (p.Asn1387Lys) c.4164C>A (p.Asn1388Lys) c.4002C>A (p.Asn1334Lys) c.4035C>A (p.Asn1345Lys) | gnomAD v4 |
| 3 | g.38560229T>A | CA352146618 | SCN5A | c.4160A>T (p.Asn1387Ile) c.4163A>T (p.Asn1388Ile) c.4001A>T (p.Asn1334Ile) c.4034A>T (p.Asn1345Ile) | |
| 3 | g.38560229T>C | CA352146621 | SCN5A | c.4160A>G (p.Asn1387Ser) c.4163A>G (p.Asn1388Ser) c.4001A>G (p.Asn1334Ser) c.4034A>G (p.Asn1345Ser) | |
| 3 | g.38560229T>G | CA352146624 | SCN5A | c.4160A>C (p.Asn1387Thr) c.4163A>C (p.Asn1388Thr) c.4001A>C (p.Asn1334Thr) c.4034A>C (p.Asn1345Thr) | |
| 3 | g.38560230T>A | CA352146626 | SCN5A | c.4159A>T (p.Asn1387Tyr) c.4162A>T (p.Asn1388Tyr) c.4000A>T (p.Asn1334Tyr) c.4033A>T (p.Asn1345Tyr) | |
| 3 | g.38560230T>C | CA352146629 | SCN5A | c.4159A>G (p.Asn1387Asp) c.4162A>G (p.Asn1388Asp) c.4000A>G (p.Asn1334Asp) c.4033A>G (p.Asn1345Asp) | |
| 3 | g.38560230T>G | CA352146635 | SCN5A | c.4159A>C (p.Asn1387His) c.4162A>C (p.Asn1388His) c.4000A>C (p.Asn1334His) c.4033A>C (p.Asn1345His) | |
| 3 | g.38560231C>A | CA352146637 | SCN5A | c.4158G>T (p.Leu1386Phe) c.4161G>T (p.Leu1387Phe) c.3999G>T (p.Leu1333Phe) c.4032G>T (p.Leu1344Phe) | |
| 3 | g.38560231C= | CA1358565683 | SCN5A | c.4158G= (p.Leu1386=) c.4161G= (p.Leu1387=) c.3999G= (p.Leu1333=) c.4032G= (p.Leu1344=) | |
| 3 | g.38560231C>G | CA062892 | SCN5A | c.4158G>C (p.Leu1386Phe) c.4161G>C (p.Leu1387Phe) c.3999G>C (p.Leu1333Phe) c.4032G>C (p.Leu1344Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38560231C>T | CA433332360 | SCN5A | c.4158G>A (p.Leu1386=) c.4161G>A (p.Leu1387=) c.3999G>A (p.Leu1333=) c.4032G>A (p.Leu1344=) | |
| 3 | g.38560232A= | CA1358565684 | SCN5A | c.4157T= (p.Leu1386=) c.4160T= (p.Leu1387=) c.3998T= (p.Leu1333=) c.4031T= (p.Leu1344=) | |
| 3 | g.38560232A>C | CA352146641 | SCN5A | c.4157T>G (p.Leu1386Trp) c.4160T>G (p.Leu1387Trp) c.3998T>G (p.Leu1333Trp) c.4031T>G (p.Leu1344Trp) | |
| 3 | g.38560232A>G | CA352146644 | SCN5A | c.4157T>C (p.Leu1386Ser) c.4160T>C (p.Leu1387Ser) c.3998T>C (p.Leu1333Ser) c.4031T>C (p.Leu1344Ser) | |
| 3 | g.38560232A>T | CA352146647 | SCN5A | c.4157T>A (p.Leu1386Ter) c.4160T>A (p.Leu1387Ter) c.3998T>A (p.Leu1333Ter) c.4031T>A (p.Leu1344Ter) | dbSNP |
| 3 | g.38560233A>C | CA352146650 | SCN5A | c.4156T>G (p.Leu1386Val) c.4159T>G (p.Leu1387Val) c.3997T>G (p.Leu1333Val) c.4030T>G (p.Leu1344Val) | |
| 3 | g.38560233A>G | CA433332361 | SCN5A | c.4156T>C (p.Leu1386=) c.4159T>C (p.Leu1387=) c.3997T>C (p.Leu1333=) c.4030T>C (p.Leu1344=) | |
| 3 | g.38560233A>T | CA352146652 | SCN5A | c.4156T>A (p.Leu1386Met) c.4159T>A (p.Leu1387Met) c.3997T>A (p.Leu1333Met) c.4030T>A (p.Leu1344Met) | |
| 3 | g.38560234G>A | CA433332365 | SCN5A | c.4155C>T (p.Ser1385=) c.4158C>T (p.Ser1386=) c.3996C>T (p.Ser1332=) c.4029C>T (p.Ser1343=) | ClinVar dbSNP |
| 3 | g.38560234G>C | CA433332366 | SCN5A | c.4155C>G (p.Ser1385=) c.4158C>G (p.Ser1386=) c.3996C>G (p.Ser1332=) c.4029C>G (p.Ser1343=) | |
| 3 | g.38560234G= | CA1358565685 | SCN5A | c.4155C= (p.Ser1385=) c.4158C= (p.Ser1386=) c.3996C= (p.Ser1332=) c.4029C= (p.Ser1343=) | |
| 3 | g.38560234G>T | CA433332367 | SCN5A | c.4155C>A (p.Ser1385=) c.4158C>A (p.Ser1386=) c.3996C>A (p.Ser1332=) c.4029C>A (p.Ser1343=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38560235G>A | CA352146654 | SCN5A | c.4154C>T (p.Ser1385Phe) c.4157C>T (p.Ser1386Phe) c.3995C>T (p.Ser1332Phe) c.4028C>T (p.Ser1343Phe) | |
| 3 | g.38560235G>C | CA352146656 | SCN5A | c.4154C>G (p.Ser1385Cys) c.4157C>G (p.Ser1386Cys) c.3995C>G (p.Ser1332Cys) c.4028C>G (p.Ser1343Cys) | |
| 3 | g.38560235G>T | CA352146658 | SCN5A | c.4154C>A (p.Ser1385Tyr) c.4157C>A (p.Ser1386Tyr) c.3995C>A (p.Ser1332Tyr) c.4028C>A (p.Ser1343Tyr) | |
| 3 | g.38560236A>C | CA352146661 | SCN5A | c.4153T>G (p.Ser1385Ala) c.4156T>G (p.Ser1386Ala) c.3994T>G (p.Ser1332Ala) c.4027T>G (p.Ser1343Ala) | |
| 3 | g.38560236A>G | CA352146663 | SCN5A | c.4153T>C (p.Ser1385Pro) c.4156T>C (p.Ser1386Pro) c.3994T>C (p.Ser1332Pro) c.4027T>C (p.Ser1343Pro) | |
| 3 | g.38560236A>T | CA352146670 | SCN5A | c.4153T>A (p.Ser1385Thr) c.4156T>A (p.Ser1386Thr) c.3994T>A (p.Ser1332Thr) c.4027T>A (p.Ser1343Thr) | |
| 3 | g.38560237C>A | CA352146672 | SCN5A | c.4152G>T (p.Glu1384Asp) c.4155G>T (p.Glu1385Asp) c.3993G>T (p.Glu1331Asp) c.4026G>T (p.Glu1342Asp) | |
| 3 | g.38560237C>G | CA352146674 | SCN5A | c.4152G>C (p.Glu1384Asp) c.4155G>C (p.Glu1385Asp) c.3993G>C (p.Glu1331Asp) c.4026G>C (p.Glu1342Asp) | gnomAD v4 |
| 3 | g.38560237C>T | CA433332369 | SCN5A | c.4152G>A (p.Glu1384=) c.4155G>A (p.Glu1385=) c.3993G>A (p.Glu1331=) c.4026G>A (p.Glu1342=) | ClinVar dbSNP |
| 3 | g.38560238T>A | CA352146681 | SCN5A | c.4151A>T (p.Glu1384Val) c.4154A>T (p.Glu1385Val) c.3992A>T (p.Glu1331Val) c.4025A>T (p.Glu1342Val) | |
| 3 | g.38560238T>C | CA352146676 | SCN5A | c.4151A>G (p.Glu1384Gly) c.4154A>G (p.Glu1385Gly) c.3992A>G (p.Glu1331Gly) c.4025A>G (p.Glu1342Gly) | |
| 3 | g.38560238T>G | CA352146679 | SCN5A | c.4151A>C (p.Glu1384Ala) c.4154A>C (p.Glu1385Ala) c.3992A>C (p.Glu1331Ala) c.4025A>C (p.Glu1342Ala) | |
| 3 | g.38560239C>A | CA352146683 | SCN5A | c.4150G>T (p.Glu1384Ter) c.4153G>T (p.Glu1385Ter) c.3991G>T (p.Glu1331Ter) c.4024G>T (p.Glu1342Ter) | dbSNP |
| 3 | g.38560239C= | CA1358565686 | SCN5A | c.4150G= (p.Glu1384=) c.4153G= (p.Glu1385=) c.3991G= (p.Glu1331=) c.4024G= (p.Glu1342=) | |
| 3 | g.38560239C>G | CA352146685 | SCN5A | c.4150G>C (p.Glu1384Gln) c.4153G>C (p.Glu1385Gln) c.3991G>C (p.Glu1331Gln) c.4024G>C (p.Glu1342Gln) | |
| 3 | g.38560239C>T | CA352146688 | SCN5A | c.4150G>A (p.Glu1384Lys) c.4153G>A (p.Glu1385Lys) c.3991G>A (p.Glu1331Lys) c.4024G>A (p.Glu1342Lys) | |
| 3 | g.38560240A= | CA1358565687 | SCN5A | c.4149T= (p.Cys1383=) c.4152T= (p.Cys1384=) c.3990T= (p.Cys1330=) c.4023T= (p.Cys1341=) | |
| 3 | g.38560240A>C | CA352146690 | SCN5A | c.4149T>G (p.Cys1383Trp) c.4152T>G (p.Cys1384Trp) c.3990T>G (p.Cys1330Trp) c.4023T>G (p.Cys1341Trp) | gnomAD v4 |
| 3 | g.38560240A>G | CA433332370 | SCN5A | c.4149T>C (p.Cys1383=) c.4152T>C (p.Cys1384=) c.3990T>C (p.Cys1330=) c.4023T>C (p.Cys1341=) | |
| 3 | g.38560240A>T | CA352146691 | SCN5A | c.4149T>A (p.Cys1383Ter) c.4152T>A (p.Cys1384Ter) c.3990T>A (p.Cys1330Ter) c.4023T>A (p.Cys1341Ter) | dbSNP |
| 3 | g.38560241C>A | CA352146693 | SCN5A | c.4148G>T (p.Cys1383Phe) c.4151G>T (p.Cys1384Phe) c.3989G>T (p.Cys1330Phe) c.4022G>T (p.Cys1341Phe) | |
| 3 | g.38560241C= | CA1358565688 | SCN5A | c.4148G= (p.Cys1383=) c.4151G= (p.Cys1384=) c.3989G= (p.Cys1330=) c.4022G= (p.Cys1341=) | |
| 3 | g.38560241C>G | CA352146694 | SCN5A | c.4148G>C (p.Cys1383Ser) c.4151G>C (p.Cys1384Ser) c.3989G>C (p.Cys1330Ser) c.4022G>C (p.Cys1341Ser) | |
| 3 | g.38560241C>T | CA352146695 | SCN5A | c.4148G>A (p.Cys1383Tyr) c.4151G>A (p.Cys1384Tyr) c.3989G>A (p.Cys1330Tyr) c.4022G>A (p.Cys1341Tyr) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38560242A>C | CA352146696 | SCN5A | c.4147T>G (p.Cys1383Gly) c.4150T>G (p.Cys1384Gly) c.3988T>G (p.Cys1330Gly) c.4021T>G (p.Cys1341Gly) | |
| 3 | g.38560242A>G | CA352146698 | SCN5A | c.4147T>C (p.Cys1383Arg) c.4150T>C (p.Cys1384Arg) c.3988T>C (p.Cys1330Arg) c.4021T>C (p.Cys1341Arg) | ClinVar dbSNP |
| 3 | g.38560242A>T | CA352146700 | SCN5A | c.4147T>A (p.Cys1383Ser) c.4150T>A (p.Cys1384Ser) c.3988T>A (p.Cys1330Ser) c.4021T>A (p.Cys1341Ser) | |
| 3 | g.38560243C>A | CA352146702 | SCN5A | c.4146G>T (p.Gln1382His) c.4149G>T (p.Gln1383His) c.3987G>T (p.Gln1329His) c.4020G>T (p.Gln1340His) | gnomAD v4 |
| 3 | g.38560243C>G | CA352146705 | SCN5A | c.4146G>C (p.Gln1382His) c.4149G>C (p.Gln1383His) c.3987G>C (p.Gln1329His) c.4020G>C (p.Gln1340His) | |
| 3 | g.38560243C>T | CA433332373 | SCN5A | c.4146G>A (p.Gln1382=) c.4149G>A (p.Gln1383=) c.3987G>A (p.Gln1329=) c.4020G>A (p.Gln1340=) | gnomAD v4 |
| 3 | g.38560244T>A | CA352146713 | SCN5A | c.4145A>T (p.Gln1382Leu) c.4148A>T (p.Gln1383Leu) c.3986A>T (p.Gln1329Leu) c.4019A>T (p.Gln1340Leu) | |
| 3 | g.38560244T>C | CA352146711 | SCN5A | c.4145A>G (p.Gln1382Arg) c.4148A>G (p.Gln1383Arg) c.3986A>G (p.Gln1329Arg) c.4019A>G (p.Gln1340Arg) | |
| 3 | g.38560244T>G | CA352146708 | SCN5A | c.4145A>C (p.Gln1382Pro) c.4148A>C (p.Gln1383Pro) c.3986A>C (p.Gln1329Pro) c.4019A>C (p.Gln1340Pro) | ClinVar |
| 3 | g.38560245G>A | CA352146716 | SCN5A | c.4144C>T (p.Gln1382Ter) c.4147C>T (p.Gln1383Ter) c.3985C>T (p.Gln1329Ter) c.4018C>T (p.Gln1340Ter) | ClinVar dbSNP |
| 3 | g.38560245G>C | CA352146719 | SCN5A | c.4144C>G (p.Gln1382Glu) c.4147C>G (p.Gln1383Glu) c.3985C>G (p.Gln1329Glu) c.4018C>G (p.Gln1340Glu) | |
| 3 | g.38560245G= | CA1358565689 | SCN5A | c.4144C= (p.Gln1382=) c.4147C= (p.Gln1383=) c.3985C= (p.Gln1329=) c.4018C= (p.Gln1340=) | |
| 3 | g.38560245G>T | CA352146723 | SCN5A | c.4144C>A (p.Gln1382Lys) c.4147C>A (p.Gln1383Lys) c.3985C>A (p.Gln1329Lys) c.4018C>A (p.Gln1340Lys) | |
| 3 | g.38560246G>A | CA433332375 | SCN5A | c.4143C>T (p.Ser1381=) c.4146C>T (p.Ser1382=) c.3984C>T (p.Ser1328=) c.4017C>T (p.Ser1339=) | |
| 3 | g.38560246G>C | CA352146725 | SCN5A | c.4143C>G (p.Ser1381Arg) c.4146C>G (p.Ser1382Arg) c.3984C>G (p.Ser1328Arg) c.4017C>G (p.Ser1339Arg) | |
| 3 | g.38560246G>T | CA352146728 | SCN5A | c.4143C>A (p.Ser1381Arg) c.4146C>A (p.Ser1382Arg) c.3984C>A (p.Ser1328Arg) c.4017C>A (p.Ser1339Arg) | |
| 3 | g.38560247C>A | CA017913 | SCN5A | c.4142G>T (p.Ser1381Ile) c.4145G>T (p.Ser1382Ile) c.3983G>T (p.Ser1328Ile) c.4016G>T (p.Ser1339Ile) | ClinVar dbSNP |
| 3 | g.38560247C= | CA1358565690 | SCN5A | c.4142G= (p.Ser1381=) c.4145G= (p.Ser1382=) c.3983G= (p.Ser1328=) c.4016G= (p.Ser1339=) | |
| 3 | g.38560247C>G | CA352146732 | SCN5A | c.4142G>C (p.Ser1381Thr) c.4145G>C (p.Ser1382Thr) c.3983G>C (p.Ser1328Thr) c.4016G>C (p.Ser1339Thr) | |
| 3 | g.38560247C>T | CA352146735 | SCN5A | c.4142G>A (p.Ser1381Asn) c.4145G>A (p.Ser1382Asn) c.3983G>A (p.Ser1328Asn) c.4016G>A (p.Ser1339Asn) | |
| 3 | g.38560248T>A | CA352146739 | SCN5A | c.4141A>T (p.Ser1381Cys) c.4144A>T (p.Ser1382Cys) c.3982A>T (p.Ser1328Cys) c.4015A>T (p.Ser1339Cys) | |
| 3 | g.38560248T>C | CA352146741 | SCN5A | c.4141A>G (p.Ser1381Gly) c.4144A>G (p.Ser1382Gly) c.3982A>G (p.Ser1328Gly) c.4015A>G (p.Ser1339Gly) | |
| 3 | g.38560248T>G | CA352146743 | SCN5A | c.4141A>C (p.Ser1381Arg) c.4144A>C (p.Ser1382Arg) c.3982A>C (p.Ser1328Arg) c.4015A>C (p.Ser1339Arg) | |
| 3 | g.38560249C>A | CA352146746 | SCN5A | c.4140G>T (p.Lys1380Asn) c.4143G>T (p.Lys1381Asn) c.3981G>T (p.Lys1327Asn) c.4014G>T (p.Lys1338Asn) | |
| 3 | g.38560249C= | CA1358565692 | SCN5A | c.4140G= (p.Lys1380=) c.4143G= (p.Lys1381=) c.3981G= (p.Lys1327=) c.4014G= (p.Lys1338=) | |
| 3 | g.38560249C>G | CA352146748 | SCN5A | c.4140G>C (p.Lys1380Asn) c.4143G>C (p.Lys1381Asn) c.3981G>C (p.Lys1327Asn) c.4014G>C (p.Lys1338Asn) | ClinVar |
| 3 | g.38560249C>T | CA433332376 | SCN5A | c.4140G>A (p.Lys1380=) c.4143G>A (p.Lys1381=) c.3981G>A (p.Lys1327=) c.4014G>A (p.Lys1338=) | ClinVar dbSNP |
| 3 | g.38560249_38560252delinsCTTG | CA1358565691 | SCN5A | c.4137_4140delinsCAAG (p.Asn1379=) c.4140_4143delinsCAAG (p.Asn1380=) c.3978_3981delinsCAAG (p.Asn1326=) c.4011_4014delinsCAAG (p.Asn1337=) | |
| 3 | g.38560250T>A | CA352146757 | SCN5A | c.4139A>T (p.Lys1380Met) c.4142A>T (p.Lys1381Met) c.3980A>T (p.Lys1327Met) c.4013A>T (p.Lys1338Met) | ClinVar |
| 3 | g.38560250T>C | CA352146751 | SCN5A | c.4139A>G (p.Lys1380Arg) c.4142A>G (p.Lys1381Arg) c.3980A>G (p.Lys1327Arg) c.4013A>G (p.Lys1338Arg) | |
| 3 | g.38560250T>G | CA352146754 | SCN5A | c.4139A>C (p.Lys1380Thr) c.4142A>C (p.Lys1381Thr) c.3980A>C (p.Lys1327Thr) c.4013A>C (p.Lys1338Thr) | |
| 3 | g.38560255_38560257del | CA017894 | SCN5A | c.4137_4139del (p.Asn1379del) c.4140_4142del (p.Asn1380del) c.3978_3980del (p.Asn1326del) c.4011_4013del (p.Asn1337del) | ClinVar dbSNP |
| 3 | g.38560251T>A | CA352146763 | SCN5A | c.4138A>T (p.Lys1380Ter) c.4141A>T (p.Lys1381Ter) c.3979A>T (p.Lys1327Ter) c.4012A>T (p.Lys1338Ter) | |
| 3 | g.38560251T>C | CA352146760 | SCN5A | c.4138A>G (p.Lys1380Glu) c.4141A>G (p.Lys1381Glu) c.3979A>G (p.Lys1327Glu) c.4012A>G (p.Lys1338Glu) | ClinVar dbSNP |
| 3 | g.38560251T>G | CA352146764 | SCN5A | c.4138A>C (p.Lys1380Gln) c.4141A>C (p.Lys1381Gln) c.3979A>C (p.Lys1327Gln) c.4012A>C (p.Lys1338Gln) | |
| 3 | g.38560251T= | CA1358565693 | SCN5A | c.4138A= (p.Lys1380=) c.4141A= (p.Lys1381=) c.3979A= (p.Lys1327=) c.4012A= (p.Lys1338=) | |
| 3 | g.38560252G>A | CA433332380 | SCN5A | c.4137C>T (p.Asn1379=) c.4140C>T (p.Asn1380=) c.3978C>T (p.Asn1326=) c.4011C>T (p.Asn1337=) | |
| 3 | g.38560252G>C | CA017900 | SCN5A | c.4137C>G (p.Asn1379Lys) c.4140C>G (p.Asn1380Lys) c.3978C>G (p.Asn1326Lys) c.4011C>G (p.Asn1337Lys) | ClinVar dbSNP |
| 3 | g.38560252G= | CA1358565694 | SCN5A | c.4137C= (p.Asn1379=) c.4140C= (p.Asn1380=) c.3978C= (p.Asn1326=) c.4011C= (p.Asn1337=) | |
| 3 | g.38560252G>T | CA352146767 | SCN5A | c.4137C>A (p.Asn1379Lys) c.4140C>A (p.Asn1380Lys) c.3978C>A (p.Asn1326Lys) c.4011C>A (p.Asn1337Lys) | |
| 3 | g.38560253T>A | CA352146770 | SCN5A | c.4136A>T (p.Asn1379Ile) c.4139A>T (p.Asn1380Ile) c.3977A>T (p.Asn1326Ile) c.4010A>T (p.Asn1337Ile) | |
| 3 | g.38560253T>C | CA352146771 | SCN5A | c.4136A>G (p.Asn1379Ser) c.4139A>G (p.Asn1380Ser) c.3977A>G (p.Asn1326Ser) c.4010A>G (p.Asn1337Ser) | |
| 3 | g.38560253T>G | CA352146773 | SCN5A | c.4136A>C (p.Asn1379Thr) c.4139A>C (p.Asn1380Thr) c.3977A>C (p.Asn1326Thr) c.4010A>C (p.Asn1337Thr) | |
| 3 | g.38560254T>A | CA352146776 | SCN5A | c.4135A>T (p.Asn1379Tyr) c.4138A>T (p.Asn1380Tyr) c.3976A>T (p.Asn1326Tyr) c.4009A>T (p.Asn1337Tyr) | |
| 3 | g.38560254T>C | CA352146778 | SCN5A | c.4135A>G (p.Asn1379Asp) c.4138A>G (p.Asn1380Asp) c.3976A>G (p.Asn1326Asp) c.4009A>G (p.Asn1337Asp) | |
| 3 | g.38560254T>G | CA352146780 | SCN5A | c.4135A>C (p.Asn1379His) c.4138A>C (p.Asn1380His) c.3976A>C (p.Asn1326His) c.4009A>C (p.Asn1337His) | |
| 3 | g.38560255G>A | CA433332382 | SCN5A | c.4134C>T (p.Asn1378=) c.4137C>T (p.Asn1379=) c.3975C>T (p.Asn1325=) c.4008C>T (p.Asn1336=) | |
| 3 | g.38560255G>C | CA352146783 | SCN5A | c.4134C>G (p.Asn1378Lys) c.4137C>G (p.Asn1379Lys) c.3975C>G (p.Asn1325Lys) c.4008C>G (p.Asn1336Lys) | |
| 3 | g.38560255G>T | CA352146785 | SCN5A | c.4134C>A (p.Asn1378Lys) c.4137C>A (p.Asn1379Lys) c.3975C>A (p.Asn1325Lys) c.4008C>A (p.Asn1336Lys) | |
| 3 | g.38560256T>A | CA352146791 | SCN5A | c.4133A>T (p.Asn1378Ile) c.4136A>T (p.Asn1379Ile) c.3974A>T (p.Asn1325Ile) c.4007A>T (p.Asn1336Ile) | |
| 3 | g.38560256T>C | CA352146789 | SCN5A | c.4133A>G (p.Asn1378Ser) c.4136A>G (p.Asn1379Ser) c.3974A>G (p.Asn1325Ser) c.4007A>G (p.Asn1336Ser) | ClinVar dbSNP |
| 3 | g.38560256T>G | CA352146787 | SCN5A | c.4133A>C (p.Asn1378Thr) c.4136A>C (p.Asn1379Thr) c.3974A>C (p.Asn1325Thr) c.4007A>C (p.Asn1336Thr) | |
| 3 | g.38560256T= | CA1358565695 | SCN5A | c.4133A= (p.Asn1378=) c.4136A= (p.Asn1379=) c.3974A= (p.Asn1325=) c.4007A= (p.Asn1336=) | |
| 3 | g.38560257T>A | CA352146793 | SCN5A | c.4132A>T (p.Asn1378Tyr) c.4135A>T (p.Asn1379Tyr) c.3973A>T (p.Asn1325Tyr) c.4006A>T (p.Asn1336Tyr) | gnomAD v4 |
| 3 | g.38560257T>C | CA352146795 | SCN5A | c.4132A>G (p.Asn1378Asp) c.4135A>G (p.Asn1379Asp) c.3973A>G (p.Asn1325Asp) c.4006A>G (p.Asn1336Asp) | |
| 3 | g.38560257T>G | CA352146798 | SCN5A | c.4132A>C (p.Asn1378His) c.4135A>C (p.Asn1379His) c.3973A>C (p.Asn1325His) c.4006A>C (p.Asn1336His) | |
| 3 | g.38560258C>A | CA433332383 | SCN5A | c.4131G>T (p.Val1377=) c.4134G>T (p.Val1378=) c.3972G>T (p.Val1324=) c.4005G>T (p.Val1335=) | |
| 3 | g.38560258C= | CA1358565696 | SCN5A | c.4131G= (p.Val1377=) c.4134G= (p.Val1378=) c.3972G= (p.Val1324=) c.4005G= (p.Val1335=) | |
| 3 | g.38560258C>G | CA433332384 | SCN5A | c.4131G>C (p.Val1377=) c.4134G>C (p.Val1378=) c.3972G>C (p.Val1324=) c.4005G>C (p.Val1335=) | |
| 3 | g.38560258C>T | CA72944778 | SCN5A | c.4131G>A (p.Val1377=) c.4134G>A (p.Val1378=) c.3972G>A (p.Val1324=) c.4005G>A (p.Val1335=) | dbSNP COSMIC |
| 3 | g.38560259A>C | CA352146803 | SCN5A | c.4130T>G (p.Val1377Gly) c.4133T>G (p.Val1378Gly) c.3971T>G (p.Val1324Gly) c.4004T>G (p.Val1335Gly) | |
| 3 | g.38560259A>G | CA352146805 | SCN5A | c.4130T>C (p.Val1377Ala) c.4133T>C (p.Val1378Ala) c.3971T>C (p.Val1324Ala) c.4004T>C (p.Val1335Ala) | |
| 3 | g.38560259A>T | CA352146808 | SCN5A | c.4130T>A (p.Val1377Glu) c.4133T>A (p.Val1378Glu) c.3971T>A (p.Val1324Glu) c.4004T>A (p.Val1335Glu) | |
| 3 | g.38560260C>A | CA352146811 | SCN5A | c.4129G>T (p.Val1377Leu) c.4132G>T (p.Val1378Leu) c.3970G>T (p.Val1324Leu) c.4003G>T (p.Val1335Leu) | dbSNP |
| 3 | g.38560260C= | CA1358565697 | SCN5A | c.4129G= (p.Val1377=) c.4132G= (p.Val1378=) c.3970G= (p.Val1324=) c.4003G= (p.Val1335=) | |
| 3 | g.38560260C>G | CA352146814 | SCN5A | c.4129G>C (p.Val1377Leu) c.4132G>C (p.Val1378Leu) c.3970G>C (p.Val1324Leu) c.4003G>C (p.Val1335Leu) | |
| 3 | g.38560260C>T | CA062884 | SCN5A | c.4129G>A (p.Val1377Met) c.4132G>A (p.Val1378Met) c.3970G>A (p.Val1324Met) c.4003G>A (p.Val1335Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560261G>A | CA062875 | SCN5A | c.4128C>T (p.Ile1376=) c.4131C>T (p.Ile1377=) c.3969C>T (p.Ile1323=) c.4002C>T (p.Ile1334=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38560261G>C | CA062867 | SCN5A | c.4128C>G (p.Ile1376Met) c.4131C>G (p.Ile1377Met) c.3969C>G (p.Ile1323Met) c.4002C>G (p.Ile1334Met) | dbSNP ExAC gnomAD v2 |
| 3 | g.38560261G= | CA1358565698 | SCN5A | c.4128C= (p.Ile1376=) c.4131C= (p.Ile1377=) c.3969C= (p.Ile1323=) c.4002C= (p.Ile1334=) | |
| 3 | g.38560261G>T | CA433332386 | SCN5A | c.4128C>A (p.Ile1376=) c.4131C>A (p.Ile1377=) c.3969C>A (p.Ile1323=) c.4002C>A (p.Ile1334=) | COSMIC COSMIC COSMIC |
| 3 | g.38560262A>C | CA352146825 | SCN5A | c.4127T>G (p.Ile1376Ser) c.4130T>G (p.Ile1377Ser) c.3968T>G (p.Ile1323Ser) c.4001T>G (p.Ile1334Ser) | |
| 3 | g.38560262A>G | CA352146828 | SCN5A | c.4127T>C (p.Ile1376Thr) c.4130T>C (p.Ile1377Thr) c.3968T>C (p.Ile1323Thr) c.4001T>C (p.Ile1334Thr) | |
| 3 | g.38560262A>T | CA352146822 | SCN5A | c.4127T>A (p.Ile1376Asn) c.4130T>A (p.Ile1377Asn) c.3968T>A (p.Ile1323Asn) c.4001T>A (p.Ile1334Asn) | |
| 3 | g.38560263T>A | CA352146832 | SCN5A | c.4126A>T (p.Ile1376Phe) c.4129A>T (p.Ile1377Phe) c.3967A>T (p.Ile1323Phe) c.4000A>T (p.Ile1334Phe) | |
| 3 | g.38560263T>C | CA352146835 | SCN5A | c.4126A>G (p.Ile1376Val) c.4129A>G (p.Ile1377Val) c.3967A>G (p.Ile1323Val) c.4000A>G (p.Ile1334Val) | gnomAD v4 |
| 3 | g.38560263T>G | CA352146836 | SCN5A | c.4126A>C (p.Ile1376Leu) c.4129A>C (p.Ile1377Leu) c.3967A>C (p.Ile1323Leu) c.4000A>C (p.Ile1334Leu) | |
| 3 | g.38560264G>A | CA433332387 | SCN5A | c.4125C>T (p.Thr1375=) c.4128C>T (p.Thr1376=) c.3966C>T (p.Thr1322=) c.3999C>T (p.Thr1333=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38560264G>C | CA433332389 | SCN5A | c.4125C>G (p.Thr1375=) c.4128C>G (p.Thr1376=) c.3966C>G (p.Thr1322=) c.3999C>G (p.Thr1333=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560264G= | CA1358565699 | SCN5A | c.4125C= (p.Thr1375=) c.4128C= (p.Thr1376=) c.3966C= (p.Thr1322=) c.3999C= (p.Thr1333=) | |
| 3 | g.38560264G>T | CA433332390 | SCN5A | c.4125C>A (p.Thr1375=) c.4128C>A (p.Thr1376=) c.3966C>A (p.Thr1322=) c.3999C>A (p.Thr1333=) | |
| 3 | g.38560265G>A | CA352146837 | SCN5A | c.4124C>T (p.Thr1375Ile) c.4127C>T (p.Thr1376Ile) c.3965C>T (p.Thr1322Ile) c.3998C>T (p.Thr1333Ile) | |
| 3 | g.38560265G>C | CA352146838 | SCN5A | c.4124C>G (p.Thr1375Ser) c.4127C>G (p.Thr1376Ser) c.3965C>G (p.Thr1322Ser) c.3998C>G (p.Thr1333Ser) | |
| 3 | g.38560265G>T | CA352146839 | SCN5A | c.4124C>A (p.Thr1375Asn) c.4127C>A (p.Thr1376Asn) c.3965C>A (p.Thr1322Asn) c.3998C>A (p.Thr1333Asn) | |
| 3 | g.38560267_38560268dup | CA1358565700 | SCN5A | c.4123_4124dup (p.Ile1376ProfsTer3) c.4126_4127dup (p.Ile1377ProfsTer3) c.3964_3965dup (p.Ile1323ProfsTer3) c.3997_3998dup (p.Ile1334ProfsTer3) | ClinVar dbSNP |
| 3 | g.38560266T>A | CA352146841 | SCN5A | c.4123A>T (p.Thr1375Ser) c.4126A>T (p.Thr1376Ser) c.3964A>T (p.Thr1322Ser) c.3997A>T (p.Thr1333Ser) | |
| 3 | g.38560266T>C | CA352146842 | SCN5A | c.4123A>G (p.Thr1375Ala) c.4126A>G (p.Thr1376Ala) c.3964A>G (p.Thr1322Ala) c.3997A>G (p.Thr1333Ala) | |
| 3 | g.38560266T>G | CA352146845 | SCN5A | c.4123A>C (p.Thr1375Pro) c.4126A>C (p.Thr1376Pro) c.3964A>C (p.Thr1322Pro) c.3997A>C (p.Thr1333Pro) | |
| 3 | g.38560267G>A | CA062862 | SCN5A | c.4122C>T (p.Tyr1374=) c.4125C>T (p.Tyr1375=) c.3963C>T (p.Tyr1321=) c.3996C>T (p.Tyr1332=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560267G>C | CA352146849 | SCN5A | c.4122C>G (p.Tyr1374Ter) c.4125C>G (p.Tyr1375Ter) c.3963C>G (p.Tyr1321Ter) c.3996C>G (p.Tyr1332Ter) | |
| 3 | g.38560267G= | CA1358565701 | SCN5A | c.4122C= (p.Tyr1374=) c.4125C= (p.Tyr1375=) c.3963C= (p.Tyr1321=) c.3996C= (p.Tyr1332=) | |
| 3 | g.38560267G>T | CA352146850 | SCN5A | c.4122C>A (p.Tyr1374Ter) c.4125C>A (p.Tyr1375Ter) c.3963C>A (p.Tyr1321Ter) c.3996C>A (p.Tyr1332Ter) | |
| 3 | g.38560268T>A | CA352146857 | SCN5A | c.4121A>T (p.Tyr1374Phe) c.4124A>T (p.Tyr1375Phe) c.3962A>T (p.Tyr1321Phe) c.3995A>T (p.Tyr1332Phe) | |
| 3 | g.38560268T>C | CA352146853 | SCN5A | c.4121A>G (p.Tyr1374Cys) c.4124A>G (p.Tyr1375Cys) c.3962A>G (p.Tyr1321Cys) c.3995A>G (p.Tyr1332Cys) | |
| 3 | g.38560268T>G | CA352146855 | SCN5A | c.4121A>C (p.Tyr1374Ser) c.4124A>C (p.Tyr1375Ser) c.3962A>C (p.Tyr1321Ser) c.3995A>C (p.Tyr1332Ser) | |
| 3 | g.38560269A= | CA1358565702 | SCN5A | c.4120T= (p.Tyr1374=) c.4123T= (p.Tyr1375=) c.3961T= (p.Tyr1321=) c.3994T= (p.Tyr1332=) | |
| 3 | g.38560269A>C | CA352146858 | SCN5A | c.4120T>G (p.Tyr1374Asp) c.4123T>G (p.Tyr1375Asp) c.3961T>G (p.Tyr1321Asp) c.3994T>G (p.Tyr1332Asp) | gnomAD v4 |
| 3 | g.38560269A>G | CA062856 | SCN5A | c.4120T>C (p.Tyr1374His) c.4123T>C (p.Tyr1375His) c.3961T>C (p.Tyr1321His) c.3994T>C (p.Tyr1332His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38560269A>T | CA352146859 | SCN5A | c.4120T>A (p.Tyr1374Asn) c.4123T>A (p.Tyr1375Asn) c.3961T>A (p.Tyr1321Asn) c.3994T>A (p.Tyr1332Asn) | |
| 3 | g.38560270G>A | CA433332392 | SCN5A | c.4119C>T (p.Asn1373=) c.4122C>T (p.Asn1374=) c.3960C>T (p.Asn1320=) c.3993C>T (p.Asn1331=) | ClinVar |
| 3 | g.38560270G>C | CA352146861 | SCN5A | c.4119C>G (p.Asn1373Lys) c.4122C>G (p.Asn1374Lys) c.3960C>G (p.Asn1320Lys) c.3993C>G (p.Asn1331Lys) | |
| 3 | g.38560270G>T | CA352146862 | SCN5A | c.4119C>A (p.Asn1373Lys) c.4122C>A (p.Asn1374Lys) c.3960C>A (p.Asn1320Lys) c.3993C>A (p.Asn1331Lys) | ClinVar |
| 3 | g.38560271T>A | CA352146864 | SCN5A | c.4118A>T (p.Asn1373Ile) c.4121A>T (p.Asn1374Ile) c.3959A>T (p.Asn1320Ile) c.3992A>T (p.Asn1331Ile) | |
| 3 | g.38560271T>C | CA352146865 | SCN5A | c.4118A>G (p.Asn1373Ser) c.4121A>G (p.Asn1374Ser) c.3959A>G (p.Asn1320Ser) c.3992A>G (p.Asn1331Ser) | gnomAD v4 |
| 3 | g.38560271T>G | CA352146866 | SCN5A | c.4118A>C (p.Asn1373Thr) c.4121A>C (p.Asn1374Thr) c.3959A>C (p.Asn1320Thr) c.3992A>C (p.Asn1331Thr) | |
| 3 | g.38560272T>A | CA352146867 | SCN5A | c.4117A>T (p.Asn1373Tyr) c.4120A>T (p.Asn1374Tyr) c.3958A>T (p.Asn1320Tyr) c.3991A>T (p.Asn1331Tyr) | |
| 3 | g.38560272T>C | CA352146868 | SCN5A | c.4117A>G (p.Asn1373Asp) c.4120A>G (p.Asn1374Asp) c.3958A>G (p.Asn1320Asp) c.3991A>G (p.Asn1331Asp) | |
| 3 | g.38560272T>G | CA352146870 | SCN5A | c.4117A>C (p.Asn1373His) c.4120A>C (p.Asn1374His) c.3958A>C (p.Asn1320His) c.3991A>C (p.Asn1331His) | |
| 3 | g.38560273C>A | CA352146872 | SCN5A | c.4116G>T (p.Leu1372Phe) c.4119G>T (p.Leu1373Phe) c.3957G>T (p.Leu1319Phe) c.3990G>T (p.Leu1330Phe) | |
| 3 | g.38560273C>G | CA352146878 | SCN5A | c.4116G>C (p.Leu1372Phe) c.4119G>C (p.Leu1373Phe) c.3957G>C (p.Leu1319Phe) c.3990G>C (p.Leu1330Phe) | COSMIC COSMIC COSMIC |
| 3 | g.38560273C>T | CA433332393 | SCN5A | c.4116G>A (p.Leu1372=) c.4119G>A (p.Leu1373=) c.3957G>A (p.Leu1319=) c.3990G>A (p.Leu1330=) | |
| 3 | g.38560274A>C | CA352146882 | SCN5A | c.4115T>G (p.Leu1372Trp) c.4118T>G (p.Leu1373Trp) c.3956T>G (p.Leu1319Trp) c.3989T>G (p.Leu1330Trp) | |
| 3 | g.38560274A>G | CA352146884 | SCN5A | c.4115T>C (p.Leu1372Ser) c.4118T>C (p.Leu1373Ser) c.3956T>C (p.Leu1319Ser) c.3989T>C (p.Leu1330Ser) | gnomAD v4 |
| 3 | g.38560274A>T | CA352146880 | SCN5A | c.4115T>A (p.Leu1372Ter) c.4118T>A (p.Leu1373Ter) c.3956T>A (p.Leu1319Ter) c.3989T>A (p.Leu1330Ter) | |
| 3 | g.38560276del | CA2586965772 | SCN5A | c.4115del (p.Leu1372Ter) c.4118del (p.Leu1373Ter) c.3956del (p.Leu1319Ter) c.3989del (p.Leu1330Ter) | |
| 3 | g.38560275A>C | CA352146886 | SCN5A | c.4114T>G (p.Leu1372Val) c.4117T>G (p.Leu1373Val) c.3955T>G (p.Leu1319Val) c.3988T>G (p.Leu1330Val) | |
| 3 | g.38560275A>G | CA433332394 | SCN5A | c.4114T>C (p.Leu1372=) c.4117T>C (p.Leu1373=) c.3955T>C (p.Leu1319=) c.3988T>C (p.Leu1330=) | |
| 3 | g.38560275A>T | CA352146888 | SCN5A | c.4114T>A (p.Leu1372Met) c.4117T>A (p.Leu1373Met) c.3955T>A (p.Leu1319Met) c.3988T>A (p.Leu1330Met) | |
| 3 | g.38560276A>C | CA433332395 | SCN5A | c.4113T>G (p.Pro1371=) c.4116T>G (p.Pro1372=) c.3954T>G (p.Pro1318=) c.3987T>G (p.Pro1329=) | |
| 3 | g.38560276A>G | CA433332396 | SCN5A | c.4113T>C (p.Pro1371=) c.4116T>C (p.Pro1372=) c.3954T>C (p.Pro1318=) c.3987T>C (p.Pro1329=) | |
| 3 | g.38560276A>T | CA433332397 | SCN5A | c.4113T>A (p.Pro1371=) c.4116T>A (p.Pro1372=) c.3954T>A (p.Pro1318=) c.3987T>A (p.Pro1329=) | |
| 3 | g.38560277G>A | CA352146890 | SCN5A | c.4112C>T (p.Pro1371Leu) c.4115C>T (p.Pro1372Leu) c.3953C>T (p.Pro1318Leu) c.3986C>T (p.Pro1329Leu) | |
| 3 | g.38560277G>C | CA352146893 | SCN5A | c.4112C>G (p.Pro1371Arg) c.4115C>G (p.Pro1372Arg) c.3953C>G (p.Pro1318Arg) c.3986C>G (p.Pro1329Arg) | |
| 3 | g.38560277G>T | CA352146895 | SCN5A | c.4112C>A (p.Pro1371His) c.4115C>A (p.Pro1372His) c.3953C>A (p.Pro1318His) c.3986C>A (p.Pro1329His) | |
| 3 | g.38560278G>A | CA352146899 | SCN5A | c.4111C>T (p.Pro1371Ser) c.4114C>T (p.Pro1372Ser) c.3952C>T (p.Pro1318Ser) c.3985C>T (p.Pro1329Ser) | |
| 3 | g.38560278G>C | CA352146902 | SCN5A | c.4111C>G (p.Pro1371Ala) c.4114C>G (p.Pro1372Ala) c.3952C>G (p.Pro1318Ala) c.3985C>G (p.Pro1329Ala) | |
| 3 | g.38560278G>T | CA352146903 | SCN5A | c.4111C>A (p.Pro1371Thr) c.4114C>A (p.Pro1372Thr) c.3952C>A (p.Pro1318Thr) c.3985C>A (p.Pro1329Thr) | |
| 3 | g.38560279C>A | CA352146905 | SCN5A | c.4110G>T (p.Leu1370Phe) c.4113G>T (p.Leu1371Phe) c.3951G>T (p.Leu1317Phe) c.3984G>T (p.Leu1328Phe) | gnomAD v4 |
| 3 | g.38560279C= | CA1358565703 | SCN5A | c.4110G= (p.Leu1370=) c.4113G= (p.Leu1371=) c.3951G= (p.Leu1317=) c.3984G= (p.Leu1328=) | |
| 3 | g.38560279C>G | CA352146908 | SCN5A | c.4110G>C (p.Leu1370Phe) c.4113G>C (p.Leu1371Phe) c.3951G>C (p.Leu1317Phe) c.3984G>C (p.Leu1328Phe) | |
| 3 | g.38560279C>T | CA433332399 | SCN5A | c.4110G>A (p.Leu1370=) c.4113G>A (p.Leu1371=) c.3951G>A (p.Leu1317=) c.3984G>A (p.Leu1328=) | ClinVar dbSNP |
| 3 | g.38560280A= | CA1358565704 | SCN5A | c.4109T= (p.Leu1370=) c.4112T= (p.Leu1371=) c.3950T= (p.Leu1317=) c.3983T= (p.Leu1328=) | |
| 3 | g.38560280A>C | CA352146911 | SCN5A | c.4109T>G (p.Leu1370Trp) c.4112T>G (p.Leu1371Trp) c.3950T>G (p.Leu1317Trp) c.3983T>G (p.Leu1328Trp) | |
| 3 | g.38560280A>G | CA352146913 | SCN5A | c.4109T>C (p.Leu1370Ser) c.4112T>C (p.Leu1371Ser) c.3950T>C (p.Leu1317Ser) c.3983T>C (p.Leu1328Ser) | |
| 3 | g.38560280A>T | CA352146916 | SCN5A | c.4109T>A (p.Leu1370Ter) c.4112T>A (p.Leu1371Ter) c.3950T>A (p.Leu1317Ter) c.3983T>A (p.Leu1328Ter) | dbSNP |
| 3 | g.38560281A>C | CA352146918 | SCN5A | c.4108T>G (p.Leu1370Val) c.4111T>G (p.Leu1371Val) c.3949T>G (p.Leu1317Val) c.3982T>G (p.Leu1328Val) | ClinVar |
| 3 | g.38560281A>G | CA433332400 | SCN5A | c.4108T>C (p.Leu1370=) c.4111T>C (p.Leu1371=) c.3949T>C (p.Leu1317=) c.3982T>C (p.Leu1328=) | |
| 3 | g.38560281A>T | CA352146920 | SCN5A | c.4108T>A (p.Leu1370Met) c.4111T>A (p.Leu1371Met) c.3949T>A (p.Leu1317Met) c.3982T>A (p.Leu1328Met) | |
| 3 | g.38560282G>A | CA433332401 | SCN5A | c.4107C>T (p.Asp1369=) c.4110C>T (p.Asp1370=) c.3948C>T (p.Asp1316=) c.3981C>T (p.Asp1327=) | |
| 3 | g.38560282G>C | CA352146925 | SCN5A | c.4107C>G (p.Asp1369Glu) c.4110C>G (p.Asp1370Glu) c.3948C>G (p.Asp1316Glu) c.3981C>G (p.Asp1327Glu) | |
| 3 | g.38560282G>T | CA352146923 | SCN5A | c.4107C>A (p.Asp1369Glu) c.4110C>A (p.Asp1370Glu) c.3948C>A (p.Asp1316Glu) c.3981C>A (p.Asp1327Glu) | |
| 3 | g.38560283T>A | CA352146929 | SCN5A | c.4106A>T (p.Asp1369Val) c.4109A>T (p.Asp1370Val) c.3947A>T (p.Asp1316Val) c.3980A>T (p.Asp1327Val) | |
| 3 | g.38560283T>C | CA017888 | SCN5A | c.4106A>G (p.Asp1369Gly) c.4109A>G (p.Asp1370Gly) c.3947A>G (p.Asp1316Gly) c.3980A>G (p.Asp1327Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560283T>G | CA352146932 | SCN5A | c.4106A>C (p.Asp1369Ala) c.4109A>C (p.Asp1370Ala) c.3947A>C (p.Asp1316Ala) c.3980A>C (p.Asp1327Ala) | dbSNP gnomAD v2 |
| 3 | g.38560283T= | CA1358565705 | SCN5A | c.4106A= (p.Asp1369=) c.4109A= (p.Asp1370=) c.3947A= (p.Asp1316=) c.3980A= (p.Asp1327=) | |
| 3 | g.38560284C>A | CA352146936 | SCN5A | c.4105G>T (p.Asp1369Tyr) c.4108G>T (p.Asp1370Tyr) c.3946G>T (p.Asp1316Tyr) c.3979G>T (p.Asp1327Tyr) | COSMIC COSMIC COSMIC |
| 3 | g.38560284C>G | CA352146939 | SCN5A | c.4105G>C (p.Asp1369His) c.4108G>C (p.Asp1370His) c.3946G>C (p.Asp1316His) c.3979G>C (p.Asp1327His) | |
| 3 | g.38560284C>T | CA352146941 | SCN5A | c.4105G>A (p.Asp1369Asn) c.4108G>A (p.Asp1370Asn) c.3946G>A (p.Asp1316Asn) c.3979G>A (p.Asp1327Asn) | ClinVar |
| 3 | g.38560285T>A | CA433332402 | SCN5A | c.4104A>T (p.Gly1368=) c.4107A>T (p.Gly1369=) c.3945A>T (p.Gly1315=) c.3978A>T (p.Gly1326=) | |
| 3 | g.38560285T>C | CA433332403 | SCN5A | c.4104A>G (p.Gly1368=) c.4107A>G (p.Gly1369=) c.3945A>G (p.Gly1315=) c.3978A>G (p.Gly1326=) | |
| 3 | g.38560285T>G | CA433332404 | SCN5A | c.4104A>C (p.Gly1368=) c.4107A>C (p.Gly1369=) c.3945A>C (p.Gly1315=) c.3978A>C (p.Gly1326=) | |
| 3 | g.38560286C>A | CA352146945 | SCN5A | c.4103G>T (p.Gly1368Val) c.4106G>T (p.Gly1369Val) c.3944G>T (p.Gly1315Val) c.3977G>T (p.Gly1326Val) | |
| 3 | g.38560286C>G | CA352146942 | SCN5A | c.4103G>C (p.Gly1368Ala) c.4106G>C (p.Gly1369Ala) c.3944G>C (p.Gly1315Ala) c.3977G>C (p.Gly1326Ala) | |
| 3 | g.38560286C>T | CA352146944 | SCN5A | c.4103G>A (p.Gly1368Glu) c.4106G>A (p.Gly1369Glu) c.3944G>A (p.Gly1315Glu) c.3977G>A (p.Gly1326Glu) | ClinVar |
| 3 | g.38560287C>A | CA352146947 | SCN5A | c.4102G>T (p.Gly1368Ter) c.4105G>T (p.Gly1369Ter) c.3943G>T (p.Gly1315Ter) c.3976G>T (p.Gly1326Ter) | dbSNP |
| 3 | g.38560287C= | CA1358565706 | SCN5A | c.4102G= (p.Gly1368=) c.4105G= (p.Gly1369=) c.3943G= (p.Gly1315=) c.3976G= (p.Gly1326=) | |
| 3 | g.38560287C>G | CA352146949 | SCN5A | c.4102G>C (p.Gly1368Arg) c.4105G>C (p.Gly1369Arg) c.3943G>C (p.Gly1315Arg) c.3976G>C (p.Gly1326Arg) | |
| 3 | g.38560287C>T | CA352146952 | SCN5A | c.4102G>A (p.Gly1368Arg) c.4105G>A (p.Gly1369Arg) c.3943G>A (p.Gly1315Arg) c.3976G>A (p.Gly1326Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38560288C>A | CA352146955 | SCN5A | c.4101G>T (p.Glu1367Asp) c.4104G>T (p.Glu1368Asp) c.3942G>T (p.Glu1314Asp) c.3975G>T (p.Glu1325Asp) | |
| 3 | g.38560288C>G | CA352146957 | SCN5A | c.4101G>C (p.Glu1367Asp) c.4104G>C (p.Glu1368Asp) c.3942G>C (p.Glu1314Asp) c.3975G>C (p.Glu1325Asp) | |
| 3 | g.38560288C>T | CA433332406 | SCN5A | c.4101G>A (p.Glu1367=) c.4104G>A (p.Glu1368=) c.3942G>A (p.Glu1314=) c.3975G>A (p.Glu1325=) | |
| 3 | g.38560289T>A | CA352146960 | SCN5A | c.4100A>T (p.Glu1367Val) c.4103A>T (p.Glu1368Val) c.3941A>T (p.Glu1314Val) c.3974A>T (p.Glu1325Val) | |
| 3 | g.38560289T>C | CA352146964 | SCN5A | c.4100A>G (p.Glu1367Gly) c.4103A>G (p.Glu1368Gly) c.3941A>G (p.Glu1314Gly) c.3974A>G (p.Glu1325Gly) | |
| 3 | g.38560289T>G | CA352146962 | SCN5A | c.4100A>C (p.Glu1367Ala) c.4103A>C (p.Glu1368Ala) c.3941A>C (p.Glu1314Ala) c.3974A>C (p.Glu1325Ala) | |
| 3 | g.38560290C>A | CA352146968 | SCN5A | c.4099G>T (p.Glu1367Ter) c.4102G>T (p.Glu1368Ter) c.3940G>T (p.Glu1314Ter) c.3973G>T (p.Glu1325Ter) | dbSNP |
| 3 | g.38560290C= | CA1358565707 | SCN5A | c.4099G= (p.Glu1367=) c.4102G= (p.Glu1368=) c.3940G= (p.Glu1314=) c.3973G= (p.Glu1325=) | |
| 3 | g.38560290C>G | CA352146971 | SCN5A | c.4099G>C (p.Glu1367Gln) c.4102G>C (p.Glu1368Gln) c.3940G>C (p.Glu1314Gln) c.3973G>C (p.Glu1325Gln) | |
| 3 | g.38560290C>T | CA352146973 | SCN5A | c.4099G>A (p.Glu1367Lys) c.4102G>A (p.Glu1368Lys) c.3940G>A (p.Glu1314Lys) c.3973G>A (p.Glu1325Lys) | |
| 3 | g.38560291T>A | CA433332408 | SCN5A | c.4098A>T (p.Thr1366=) c.4101A>T (p.Thr1367=) c.3939A>T (p.Thr1313=) c.3972A>T (p.Thr1324=) | |
| 3 | g.38560291T>C | CA062842 | SCN5A | c.4098A>G (p.Thr1366=) c.4101A>G (p.Thr1367=) c.3939A>G (p.Thr1313=) c.3972A>G (p.Thr1324=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38560291T>G | CA433332409 | SCN5A | c.4098A>C (p.Thr1366=) c.4101A>C (p.Thr1367=) c.3939A>C (p.Thr1313=) c.3972A>C (p.Thr1324=) | |
| 3 | g.38560291T= | CA1358565708 | SCN5A | c.4098A= (p.Thr1366=) c.4101A= (p.Thr1367=) c.3939A= (p.Thr1313=) c.3972A= (p.Thr1324=) |