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.38605912T>C | CA2665115222 | SCN5A | c.1338+39A>G (n.1338+39A>G) c.1209+39A>G (n.1209+39A>G) | gnomAD v4 |
| 3 | g.38605913G>A | CA906895199 | SCN5A | c.1338+38C>T (n.1338+38C>T) c.1209+38C>T (n.1209+38C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38605913G= | CA1358585888 | SCN5A | c.1338+38C= (n.1338+38C=) c.1209+38C= (n.1209+38C=) | |
| 3 | g.38605914A>C | CA2665115223 | SCN5A | c.1338+37T>G (n.1338+37T>G) c.1209+37T>G (n.1209+37T>G) | gnomAD v4 |
| 3 | g.38605916G>T | CA2665115224 | SCN5A | c.1338+35C>A (n.1338+35C>A) c.1209+35C>A (n.1209+35C>A) | gnomAD v4 |
| 3 | g.38605917G>A | CA1046996345 | SCN5A | c.1338+34C>T (n.1338+34C>T) c.1209+34C>T (n.1209+34C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38605917G= | CA1358585889 | SCN5A | c.1338+34C= (n.1338+34C=) c.1209+34C= (n.1209+34C=) | |
| 3 | g.38605917G>T | CA2665115225 | SCN5A | c.1338+34C>A (n.1338+34C>A) c.1209+34C>A (n.1209+34C>A) | gnomAD v4 |
| 3 | g.38605918C>A | CA2665115226 | SCN5A | c.1338+33G>T (n.1338+33G>T) c.1209+33G>T (n.1209+33G>T) | gnomAD v4 |
| 3 | g.38605918C= | CA1358585890 | SCN5A | c.1338+33G= (n.1338+33G=) c.1209+33G= (n.1209+33G=) | |
| 3 | g.38605918C>T | CA057579 | SCN5A | c.1338+33G>A (n.1338+33G>A) c.1209+33G>A (n.1209+33G>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.38605920T>C | CA542615741 | SCN5A | c.1338+31A>G (n.1338+31A>G) c.1209+31A>G (n.1209+31A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38605920T= | CA1358585891 | SCN5A | c.1338+31A= (n.1338+31A=) c.1209+31A= (n.1209+31A=) | |
| 3 | g.38605921A>T | CA2665115227 | SCN5A | c.1338+30T>A (n.1338+30T>A) c.1209+30T>A (n.1209+30T>A) | gnomAD v4 |
| 3 | g.38605922G>A | CA72940267 | SCN5A | c.1338+29C>T (n.1338+29C>T) c.1209+29C>T (n.1209+29C>T) | dbSNP gnomAD v4 |
| 3 | g.38605922G>C | CA2665115228 | SCN5A | c.1338+29C>G (n.1338+29C>G) c.1209+29C>G (n.1209+29C>G) | gnomAD v4 |
| 3 | g.38605922G= | CA1358585892 | SCN5A | c.1338+29C= (n.1338+29C=) c.1209+29C= (n.1209+29C=) | |
| 3 | g.38605924G>A | CA1358585894 | SCN5A | c.1338+27C>T (n.1338+27C>T) c.1209+27C>T (n.1209+27C>T) | dbSNP |
| 3 | g.38605924G= | CA1358585893 | SCN5A | c.1338+27C= (n.1338+27C=) c.1209+27C= (n.1209+27C=) | |
| 3 | g.38605924G>T | CA72940272 | SCN5A | c.1338+27C>A (n.1338+27C>A) c.1209+27C>A (n.1209+27C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38605925G>T | CA2665115229 | SCN5A | c.1338+26C>A (n.1338+26C>A) c.1209+26C>A (n.1209+26C>A) | gnomAD v4 |
| 3 | g.38605926C>T | CA2665115230 | SCN5A | c.1338+25G>A (n.1338+25G>A) c.1209+25G>A (n.1209+25G>A) | gnomAD v4 |
| 3 | g.38605928C= | CA1358585895 | SCN5A | c.1338+23G= (n.1338+23G=) c.1209+23G= (n.1209+23G=) | |
| 3 | g.38605928C>T | CA1358585896 | SCN5A | c.1338+23G>A (n.1338+23G>A) c.1209+23G>A (n.1209+23G>A) | dbSNP |
| 3 | g.38605929C= | CA1358585897 | SCN5A | c.1338+22G= (n.1338+22G=) c.1209+22G= (n.1209+22G=) | |
| 3 | g.38605929C>G | CA542615742 | SCN5A | c.1338+22G>C (n.1338+22G>C) c.1209+22G>C (n.1209+22G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38605929C>T | CA906895203 | SCN5A | c.1338+22G>A (n.1338+22G>A) c.1209+22G>A (n.1209+22G>A) | dbSNP gnomAD v4 |
| 3 | g.38605930T>C | CA2665115231 | SCN5A | c.1338+21A>G (n.1338+21A>G) c.1209+21A>G (n.1209+21A>G) | gnomAD v4 |
| 3 | g.38605931C= | CA1358585898 | SCN5A | c.1338+20G= (n.1338+20G=) c.1209+20G= (n.1209+20G=) | |
| 3 | g.38605931C>T | CA057574 | SCN5A | c.1338+20G>A (n.1338+20G>A) c.1209+20G>A (n.1209+20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38605932G>A | CA542615743 | SCN5A | c.1338+19C>T (n.1338+19C>T) c.1209+19C>T (n.1209+19C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38605932G>C | CA2580069736 | SCN5A | c.1338+19C>G (n.1338+19C>G) c.1209+19C>G (n.1209+19C>G) | ClinVar |
| 3 | g.38605932G= | CA1358585899 | SCN5A | c.1338+19C= (n.1338+19C=) c.1209+19C= (n.1209+19C=) | |
| 3 | g.38605932G>T | CA2665115232 | SCN5A | c.1338+19C>A (n.1338+19C>A) c.1209+19C>A (n.1209+19C>A) | gnomAD v4 |
| 3 | g.38605933G>A | CA057567 | SCN5A | c.1338+18C>T (n.1338+18C>T) c.1209+18C>T (n.1209+18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38605933G>C | CA057564 | SCN5A | c.1338+18C>G (n.1338+18C>G) c.1209+18C>G (n.1209+18C>G) | ClinVar dbSNP ExAC gnomAD v4 |
| 3 | g.38605933G= | CA1358585900 | SCN5A | c.1338+18C= (n.1338+18C=) c.1209+18C= (n.1209+18C=) | |
| 3 | g.38605934T>C | CA1358585902 | SCN5A | c.1338+17A>G (n.1338+17A>G) c.1209+17A>G (n.1209+17A>G) | dbSNP gnomAD v4 |
| 3 | g.38605934T= | CA1358585901 | SCN5A | c.1338+17A= (n.1338+17A=) c.1209+17A= (n.1209+17A=) | |
| 3 | g.38605935G>A | CA2665115233 | SCN5A | c.1338+16C>T (n.1338+16C>T) c.1209+16C>T (n.1209+16C>T) | gnomAD v4 |
| 3 | g.38605937C= | CA1358585903 | SCN5A | c.1338+14G= (n.1338+14G=) c.1209+14G= (n.1209+14G=) | |
| 3 | g.38605937C>T | CA1358585904 | SCN5A | c.1338+14G>A (n.1338+14G>A) c.1209+14G>A (n.1209+14G>A) | ClinVar dbSNP |
| 3 | g.38605939C>A | CA2665115234 | SCN5A | c.1338+12G>T (n.1338+12G>T) c.1209+12G>T (n.1209+12G>T) | gnomAD v4 |
| 3 | g.38605939C>G | CA2573136275 | SCN5A | c.1338+12G>C (n.1338+12G>C) c.1209+12G>C (n.1209+12G>C) | ClinVar dbSNP |
| 3 | g.38605939C>T | CA2665115235 | SCN5A | c.1338+12G>A (n.1338+12G>A) c.1209+12G>A (n.1209+12G>A) | gnomAD v4 |
| 3 | g.38605940T>C | CA542615744 | SCN5A | c.1338+11A>G (n.1338+11A>G) c.1209+11A>G (n.1209+11A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38605940T= | CA1358585905 | SCN5A | c.1338+11A= (n.1338+11A=) c.1209+11A= (n.1209+11A=) | |
| 3 | g.38605941G>A | CA2665115236 | SCN5A | c.1338+10C>T (n.1338+10C>T) c.1209+10C>T (n.1209+10C>T) | gnomAD v4 |
| 3 | g.38605942C>A | CA2665115237 | SCN5A | c.1338+9G>T (n.1338+9G>T) c.1209+9G>T (n.1209+9G>T) | gnomAD v4 |
| 3 | g.38605942C= | CA1358585906 | SCN5A | c.1338+9G= (n.1338+9G=) c.1209+9G= (n.1209+9G=) | |
| 3 | g.38605942C>G | CA72940282 | SCN5A | c.1338+9G>C (n.1338+9G>C) c.1209+9G>C (n.1209+9G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38605942C>T | CA2577553476 | SCN5A | c.1338+9G>A (n.1338+9G>A) c.1209+9G>A (n.1209+9G>A) | |
| 3 | g.38605944C= | CA1358585907 | SCN5A | c.1338+7G= (n.1338+7G=) c.1209+7G= (n.1209+7G=) | |
| 3 | g.38605944C>T | CA542615745 | SCN5A | c.1338+7G>A (n.1338+7G>A) c.1209+7G>A (n.1209+7G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38605945A>C | CA2665115238 | SCN5A | c.1338+6T>G (n.1338+6T>G) c.1209+6T>G (n.1209+6T>G) | gnomAD v4 |
| 3 | g.38605947C>A | CA2665115239 | SCN5A | c.1338+4G>T (n.1338+4G>T) c.1209+4G>T (n.1209+4G>T) | gnomAD v4 |
| 3 | g.38605947C>G | CA2577553477 | SCN5A | c.1338+4G>C (n.1338+4G>C) c.1209+4G>C (n.1209+4G>C) | |
| 3 | g.38605948C= | CA1358585908 | SCN5A | c.1338+3G= (n.1338+3G=) c.1209+3G= (n.1209+3G=) | |
| 3 | g.38605948C>T | CA658683338 | SCN5A | c.1338+3G>A (n.1338+3G>A) c.1209+3G>A (n.1209+3G>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38605949A= | CA1358585909 | SCN5A | c.1338+2T= (n.1338+2T=) c.1209+2T= (n.1209+2T=) | |
| 3 | g.38605949A>C | CA352148299 | SCN5A | c.1338+2T>G (n.1338+2T>G) c.1209+2T>G (n.1209+2T>G) | |
| 3 | g.38605949A>G | CA352148300 | SCN5A | c.1338+2T>C (n.1338+2T>C) c.1209+2T>C (n.1209+2T>C) | dbSNP |
| 3 | g.38605949A>T | CA014714 | SCN5A | c.1338+2T>A (n.1338+2T>A) c.1209+2T>A (n.1209+2T>A) | ClinVar dbSNP |
| 3 | g.38605950C>A | CA352148303 | SCN5A | c.1338+1G>T (n.1338+1G>T) c.1209+1G>T (n.1209+1G>T) | |
| 3 | g.38605950C>G | CA352148301 | SCN5A | c.1338+1G>C (n.1338+1G>C) c.1209+1G>C (n.1209+1G>C) | |
| 3 | g.38605950C>T | CA352148302 | SCN5A | c.1338+1G>A (n.1338+1G>A) c.1209+1G>A (n.1209+1G>A) | |
| 3 | g.38605951C>A | CA352148304 | SCN5A | c.1338G>T (p.Glu446Asp) c.1209G>T (p.Glu403Asp) | |
| 3 | g.38605951C= | CA1358585910 | SCN5A | c.1338G= (p.Glu446=) c.1209G= (p.Glu403=) | |
| 3 | g.38605951C>G | CA352148305 | SCN5A | c.1338G>C (p.Glu446Asp) c.1209G>C (p.Glu403Asp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38605951C>T | CA433137501 | SCN5A | c.1338G>A (p.Glu446=) c.1209G>A (p.Glu403=) | ClinVar dbSNP |
| 3 | g.38605952T>A | CA352148306 | SCN5A | c.1337A>T (p.Glu446Val) c.1208A>T (p.Glu403Val) | |
| 3 | g.38605952T>C | CA352148307 | SCN5A | c.1337A>G (p.Glu446Gly) c.1208A>G (p.Glu403Gly) | |
| 3 | g.38605952T>G | CA352148308 | SCN5A | c.1337A>C (p.Glu446Ala) c.1208A>C (p.Glu403Ala) | |
| 3 | g.38605953C>A | CA352148309 | SCN5A | c.1336G>T (p.Glu446Ter) c.1207G>T (p.Glu403Ter) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38605953C= | CA1358585911 | SCN5A | c.1336G= (p.Glu446=) c.1207G= (p.Glu403=) | |
| 3 | g.38605953C>G | CA352148310 | SCN5A | c.1336G>C (p.Glu446Gln) c.1207G>C (p.Glu403Gln) | ClinVar dbSNP |
| 3 | g.38605953C>T | CA014706 | SCN5A | c.1336G>A (p.Glu446Lys) c.1207G>A (p.Glu403Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38605954G>A | CA057551 | SCN5A | c.1335C>T (p.His445=) c.1206C>T (p.His402=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38605954G>C | CA352148311 | SCN5A | c.1335C>G (p.His445Gln) c.1206C>G (p.His402Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38605954G= | CA1358585912 | SCN5A | c.1335C= (p.His445=) c.1206C= (p.His402=) | |
| 3 | g.38605954G>T | CA057543 | SCN5A | c.1335C>A (p.His445Gln) c.1206C>A (p.His402Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38605955T>A | CA352148312 | SCN5A | c.1334A>T (p.His445Leu) c.1205A>T (p.His402Leu) | |
| 3 | g.38605955T>C | CA352148314 | SCN5A | c.1334A>G (p.His445Arg) c.1205A>G (p.His402Arg) | |
| 3 | g.38605955T>G | CA352148313 | SCN5A | c.1334A>C (p.His445Pro) c.1205A>C (p.His402Pro) | |
| 3 | g.38605956G>A | CA352148315 | SCN5A | c.1333C>T (p.His445Tyr) c.1204C>T (p.His402Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38605956G>C | CA014695 | SCN5A | c.1333C>G (p.His445Asp) c.1204C>G (p.His402Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38605956G= | CA1358585913 | SCN5A | c.1333C= (p.His445=) c.1204C= (p.His402=) | |
| 3 | g.38605956G>T | CA352148316 | SCN5A | c.1333C>A (p.His445Asn) c.1204C>A (p.His402Asn) | |
| 3 | g.38605957T>A | CA352148317 | SCN5A | c.1332A>T (p.Glu444Asp) c.1203A>T (p.Glu401Asp) | |
| 3 | g.38605957T>C | CA433137506 | SCN5A | c.1332A>G (p.Glu444=) c.1203A>G (p.Glu401=) | |
| 3 | g.38605957T>G | CA352148318 | SCN5A | c.1332A>C (p.Glu444Asp) c.1203A>C (p.Glu401Asp) | |
| 3 | g.38605958T>A | CA352148319 | SCN5A | c.1331A>T (p.Glu444Val) c.1202A>T (p.Glu401Val) | |
| 3 | g.38605958T>C | CA352148320 | SCN5A | c.1331A>G (p.Glu444Gly) c.1202A>G (p.Glu401Gly) | |
| 3 | g.38605958T>G | CA352148321 | SCN5A | c.1331A>C (p.Glu444Ala) c.1202A>C (p.Glu401Ala) | |
| 3 | g.38605959C>A | CA352148323 | SCN5A | c.1330G>T (p.Glu444Ter) c.1201G>T (p.Glu401Ter) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38605959C= | CA1358585914 | SCN5A | c.1330G= (p.Glu444=) c.1201G= (p.Glu401=) | |
| 3 | g.38605959C>G | CA352148324 | SCN5A | c.1330G>C (p.Glu444Gln) c.1201G>C (p.Glu401Gln) | |
| 3 | g.38605959C>T | CA352148326 | SCN5A | c.1330G>A (p.Glu444Lys) c.1201G>A (p.Glu401Lys) | gnomAD v4 |
| 3 | g.38605960T>A | CA352148328 | SCN5A | c.1329A>T (p.Lys443Asn) c.1200A>T (p.Lys400Asn) | |
| 3 | g.38605960T>C | CA433137508 | SCN5A | c.1329A>G (p.Lys443=) c.1200A>G (p.Lys400=) | ClinVar dbSNP |
| 3 | g.38605960T>G | CA352148329 | SCN5A | c.1329A>C (p.Lys443Asn) c.1200A>C (p.Lys400Asn) | |
| 3 | g.38605961T>A | CA352148331 | SCN5A | c.1328A>T (p.Lys443Ile) c.1199A>T (p.Lys400Ile) | |
| 3 | g.38605961T>C | CA352148332 | SCN5A | c.1328A>G (p.Lys443Arg) c.1199A>G (p.Lys400Arg) | |
| 3 | g.38605961T>G | CA352148334 | SCN5A | c.1328A>C (p.Lys443Thr) c.1199A>C (p.Lys400Thr) | |
| 3 | g.38605962T>A | CA352148339 | SCN5A | c.1327A>T (p.Lys443Ter) c.1198A>T (p.Lys400Ter) | dbSNP |
| 3 | g.38605962T>C | CA352148338 | SCN5A | c.1327A>G (p.Lys443Glu) c.1198A>G (p.Lys400Glu) | |
| 3 | g.38605962T>G | CA352148336 | SCN5A | c.1327A>C (p.Lys443Gln) c.1198A>C (p.Lys400Gln) | |
| 3 | g.38605962T= | CA1358585915 | SCN5A | c.1327A= (p.Lys443=) c.1198A= (p.Lys400=) | |
| 3 | g.38605963C>A | CA352148341 | SCN5A | c.1326G>T (p.Lys442Asn) c.1197G>T (p.Lys399Asn) | |
| 3 | g.38605963C>G | CA352148343 | SCN5A | c.1326G>C (p.Lys442Asn) c.1197G>C (p.Lys399Asn) | |
| 3 | g.38605963C>T | CA433137509 | SCN5A | c.1326G>A (p.Lys442=) c.1197G>A (p.Lys399=) | |
| 3 | g.38605964T>A | CA352148345 | SCN5A | c.1325A>T (p.Lys442Met) c.1196A>T (p.Lys399Met) | |
| 3 | g.38605964T>C | CA352148346 | SCN5A | c.1325A>G (p.Lys442Arg) c.1196A>G (p.Lys399Arg) | |
| 3 | g.38605964T>G | CA352148348 | SCN5A | c.1325A>C (p.Lys442Thr) c.1196A>C (p.Lys399Thr) | |
| 3 | g.38605965T>A | CA352148350 | SCN5A | c.1324A>T (p.Lys442Ter) c.1195A>T (p.Lys399Ter) | dbSNP |
| 3 | g.38605965T>C | CA352148352 | SCN5A | c.1324A>G (p.Lys442Glu) c.1195A>G (p.Lys399Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38605965T>G | CA352148353 | SCN5A | c.1324A>C (p.Lys442Gln) c.1195A>C (p.Lys399Gln) | ClinVar gnomAD v4 |
| 3 | g.38605965T= | CA1358585916 | SCN5A | c.1324A= (p.Lys442=) c.1195A= (p.Lys399=) | |
| 3 | g.38605966G>A | CA433137513 | SCN5A | c.1323C>T (p.Leu441=) c.1194C>T (p.Leu398=) | ClinVar dbSNP |
| 3 | g.38605966G>C | CA433137514 | SCN5A | c.1323C>G (p.Leu441=) c.1194C>G (p.Leu398=) | ClinVar dbSNP |
| 3 | g.38605966G>T | CA433137515 | SCN5A | c.1323C>A (p.Leu441=) c.1194C>A (p.Leu398=) | |
| 3 | g.38605967A= | CA1358585917 | SCN5A | c.1322T= (p.Leu441=) c.1193T= (p.Leu398=) | |
| 3 | g.38605967A>C | CA057525 | SCN5A | c.1322T>G (p.Leu441Arg) c.1193T>G (p.Leu398Arg) | dbSNP ExAC |
| 3 | g.38605967A>G | CA352148356 | SCN5A | c.1322T>C (p.Leu441Pro) c.1193T>C (p.Leu398Pro) | gnomAD v4 |
| 3 | g.38605967A>T | CA352148358 | SCN5A | c.1322T>A (p.Leu441His) c.1193T>A (p.Leu398His) | |
| 3 | g.38605968G>A | CA057516 | SCN5A | c.1321C>T (p.Leu441Phe) c.1192C>T (p.Leu398Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38605968G>C | CA352148360 | SCN5A | c.1321C>G (p.Leu441Val) c.1192C>G (p.Leu398Val) | |
| 3 | g.38605968G= | CA1358585918 | SCN5A | c.1321C= (p.Leu441=) c.1192C= (p.Leu398=) | |
| 3 | g.38605968G>T | CA352148359 | SCN5A | c.1321C>A (p.Leu441Ile) c.1192C>A (p.Leu398Ile) | |
| 3 | g.38605969C>A | CA352148362 | SCN5A | c.1320G>T (p.Met440Ile) c.1191G>T (p.Met397Ile) | |
| 3 | g.38605969C>G | CA352148363 | SCN5A | c.1320G>C (p.Met440Ile) c.1191G>C (p.Met397Ile) | |
| 3 | g.38605969C>T | CA352148364 | SCN5A | c.1320G>A (p.Met440Ile) c.1191G>A (p.Met397Ile) | dbSNP gnomAD v4 |
| 3 | g.38605970A>C | CA352148365 | SCN5A | c.1319T>G (p.Met440Arg) c.1190T>G (p.Met397Arg) | |
| 3 | g.38605970A>G | CA352148367 | SCN5A | c.1319T>C (p.Met440Thr) c.1190T>C (p.Met397Thr) | |
| 3 | g.38605970A>T | CA352148368 | SCN5A | c.1319T>A (p.Met440Lys) c.1190T>A (p.Met397Lys) | |
| 3 | g.38605971T>A | CA352148369 | SCN5A | c.1318A>T (p.Met440Leu) c.1189A>T (p.Met397Leu) | |
| 3 | g.38605971T>C | CA352148370 | SCN5A | c.1318A>G (p.Met440Val) c.1189A>G (p.Met397Val) | |
| 3 | g.38605971T>G | CA352148371 | SCN5A | c.1318A>C (p.Met440Leu) c.1189A>C (p.Met397Leu) | |
| 3 | g.38605972T>A | CA352148372 | SCN5A | c.1317A>T (p.Glu439Asp) c.1188A>T (p.Glu396Asp) | |
| 3 | g.38605972T>C | CA433137522 | SCN5A | c.1317A>G (p.Glu439=) c.1188A>G (p.Glu396=) | |
| 3 | g.38605972T>G | CA352148373 | SCN5A | c.1317A>C (p.Glu439Asp) c.1188A>C (p.Glu396Asp) | |
| 3 | g.38605973T>A | CA352148385 | SCN5A | c.1316A>T (p.Glu439Val) c.1187A>T (p.Glu396Val) | dbSNP gnomAD v4 |
| 3 | g.38605973T>C | CA352148376 | SCN5A | c.1316A>G (p.Glu439Gly) c.1187A>G (p.Glu396Gly) | |
| 3 | g.38605973T>G | CA352148374 | SCN5A | c.1316A>C (p.Glu439Ala) c.1187A>C (p.Glu396Ala) | |
| 3 | g.38605973T= | CA1358585919 | SCN5A | c.1316A= (p.Glu439=) c.1187A= (p.Glu396=) | |
| 3 | g.38605974C>A | CA352148386 | SCN5A | c.1315G>T (p.Glu439Ter) c.1186G>T (p.Glu396Ter) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38605974C= | CA1358585920 | SCN5A | c.1315G= (p.Glu439=) c.1186G= (p.Glu396=) | |
| 3 | g.38605974C>G | CA352148388 | SCN5A | c.1315G>C (p.Glu439Gln) c.1186G>C (p.Glu396Gln) | |
| 3 | g.38605974C>T | CA014686 | SCN5A | c.1315G>A (p.Glu439Lys) c.1186G>A (p.Glu396Lys) | ClinVar dbSNP |
| 3 | g.38605975C>A | CA352148390 | SCN5A | c.1314G>T (p.Met438Ile) c.1185G>T (p.Met395Ile) | |
| 3 | g.38605975C>G | CA352148393 | SCN5A | c.1314G>C (p.Met438Ile) c.1185G>C (p.Met395Ile) | |
| 3 | g.38605975C>T | CA352148395 | SCN5A | c.1314G>A (p.Met438Ile) c.1185G>A (p.Met395Ile) | COSMIC COSMIC COSMIC |
| 3 | g.38605976A= | CA1358585921 | SCN5A | c.1313T= (p.Met438=) c.1184T= (p.Met395=) | |
| 3 | g.38605976A>C | CA352148396 | SCN5A | c.1313T>G (p.Met438Arg) c.1184T>G (p.Met395Arg) | |
| 3 | g.38605976A>G | CA72940306 | SCN5A | c.1313T>C (p.Met438Thr) c.1184T>C (p.Met395Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38605976A>T | CA352148398 | SCN5A | c.1313T>A (p.Met438Lys) c.1184T>A (p.Met395Lys) | |
| 3 | g.38605977T>A | CA352148400 | SCN5A | c.1312A>T (p.Met438Leu) c.1183A>T (p.Met395Leu) | ClinVar gnomAD v4 |
| 3 | g.38605977T>C | CA72940309 | SCN5A | c.1312A>G (p.Met438Val) c.1183A>G (p.Met395Val) | ClinVar dbSNP |
| 3 | g.38605977T>G | CA352148403 | SCN5A | c.1312A>C (p.Met438Leu) c.1183A>C (p.Met395Leu) | |
| 3 | g.38605977T= | CA1358585922 | SCN5A | c.1312A= (p.Met438=) c.1183A= (p.Met395=) | |
| 3 | g.38605980_38605987del | CA2580069739 | SCN5A | c.1305_1312del (p.Gln435HisfsTer22) c.1176_1183del (p.Gln392HisfsTer22) | ClinVar |
| 3 | g.38605978G>A | CA433137527 | SCN5A | c.1311C>T (p.Ala437=) c.1182C>T (p.Ala394=) | |
| 3 | g.38605978G>C | CA433137528 | SCN5A | c.1311C>G (p.Ala437=) c.1182C>G (p.Ala394=) | |
| 3 | g.38605978G>T | CA433137529 | SCN5A | c.1311C>A (p.Ala437=) c.1182C>A (p.Ala394=) | |
| 3 | g.38605979G>A | CA057504 | SCN5A | c.1310C>T (p.Ala437Val) c.1181C>T (p.Ala394Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38605979G>C | CA352148407 | SCN5A | c.1310C>G (p.Ala437Gly) c.1181C>G (p.Ala394Gly) | |
| 3 | g.38605979G= | CA1358585923 | SCN5A | c.1310C= (p.Ala437=) c.1181C= (p.Ala394=) | |
| 3 | g.38605979G>T | CA352148405 | SCN5A | c.1310C>A (p.Ala437Asp) c.1181C>A (p.Ala394Asp) | |
| 3 | g.38605980C>A | CA352148413 | SCN5A | c.1309G>T (p.Ala437Ser) c.1180G>T (p.Ala394Ser) | |
| 3 | g.38605980C= | CA1358585924 | SCN5A | c.1309G= (p.Ala437=) c.1180G= (p.Ala394=) | |
| 3 | g.38605980C>G | CA352148410 | SCN5A | c.1309G>C (p.Ala437Pro) c.1180G>C (p.Ala394Pro) | |
| 3 | g.38605980C>T | CA352148412 | SCN5A | c.1309G>A (p.Ala437Thr) c.1180G>A (p.Ala394Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38605981C>A | CA352148415 | SCN5A | c.1308G>T (p.Glu436Asp) c.1179G>T (p.Glu393Asp) | |
| 3 | g.38605981C= | CA1358585925 | SCN5A | c.1308G= (p.Glu436=) c.1179G= (p.Glu393=) | |
| 3 | g.38605981C>G | CA352148416 | SCN5A | c.1308G>C (p.Glu436Asp) c.1179G>C (p.Glu393Asp) | |
| 3 | g.38605981C>T | CA057493 | SCN5A | c.1308G>A (p.Glu436=) c.1179G>A (p.Glu393=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38605982T>A | CA352148419 | SCN5A | c.1307A>T (p.Glu436Val) c.1178A>T (p.Glu393Val) | |
| 3 | g.38605982T>C | CA352148421 | SCN5A | c.1307A>G (p.Glu436Gly) c.1178A>G (p.Glu393Gly) | |
| 3 | g.38605982T>G | CA352148423 | SCN5A | c.1307A>C (p.Glu436Ala) c.1178A>C (p.Glu393Ala) | |
| 3 | g.38605983C>A | CA352148425 | SCN5A | c.1306G>T (p.Glu436Ter) c.1177G>T (p.Glu393Ter) | dbSNP |
| 3 | g.38605983C= | CA1358585926 | SCN5A | c.1306G= (p.Glu436=) c.1177G= (p.Glu393=) | |
| 3 | g.38605983C>G | CA352148426 | SCN5A | c.1306G>C (p.Glu436Gln) c.1177G>C (p.Glu393Gln) | |
| 3 | g.38605983C>T | CA352148428 | SCN5A | c.1306G>A (p.Glu436Lys) c.1177G>A (p.Glu393Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38605984C>A | CA352148430 | SCN5A | c.1305G>T (p.Gln435His) c.1176G>T (p.Gln392His) | |
| 3 | g.38605984C>G | CA352148431 | SCN5A | c.1305G>C (p.Gln435His) c.1176G>C (p.Gln392His) | |
| 3 | g.38605984C>T | CA433137535 | SCN5A | c.1305G>A (p.Gln435=) c.1176G>A (p.Gln392=) | |
| 3 | g.38605985T>A | CA352148436 | SCN5A | c.1304A>T (p.Gln435Leu) c.1175A>T (p.Gln392Leu) | |
| 3 | g.38605985T>C | CA352148434 | SCN5A | c.1304A>G (p.Gln435Arg) c.1175A>G (p.Gln392Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38605985T>G | CA352148432 | SCN5A | c.1304A>C (p.Gln435Pro) c.1175A>C (p.Gln392Pro) | |
| 3 | g.38605985T= | CA1358585927 | SCN5A | c.1304A= (p.Gln435=) c.1175A= (p.Gln392=) | |
| 3 | g.38605986G>A | CA72940317 | SCN5A | c.1303C>T (p.Gln435Ter) c.1174C>T (p.Gln392Ter) | dbSNP gnomAD v4 |
| 3 | g.38605986G>C | CA352148439 | SCN5A | c.1303C>G (p.Gln435Glu) c.1174C>G (p.Gln392Glu) | |
| 3 | g.38605986G= | CA1358585928 | SCN5A | c.1303C= (p.Gln435=) c.1174C= (p.Gln392=) | |
| 3 | g.38605986G>T | CA352148441 | SCN5A | c.1303C>A (p.Gln435Lys) c.1174C>A (p.Gln392Lys) | |
| 3 | g.38605987G>A | CA014675 | SCN5A | c.1302C>T (p.Phe434=) c.1173C>T (p.Phe391=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38605987G>C | CA352148443 | SCN5A | c.1302C>G (p.Phe434Leu) c.1173C>G (p.Phe391Leu) | |
| 3 | g.38605987G= | CA1358585929 | SCN5A | c.1302C= (p.Phe434=) c.1173C= (p.Phe391=) | |
| 3 | g.38605987G>T | CA352148445 | SCN5A | c.1302C>A (p.Phe434Leu) c.1173C>A (p.Phe391Leu) | |
| 3 | g.38605988A>C | CA352148446 | SCN5A | c.1301T>G (p.Phe434Cys) c.1172T>G (p.Phe391Cys) | |
| 3 | g.38605988A>G | CA352148448 | SCN5A | c.1301T>C (p.Phe434Ser) c.1172T>C (p.Phe391Ser) | |
| 3 | g.38605988A>T | CA352148449 | SCN5A | c.1301T>A (p.Phe434Tyr) c.1172T>A (p.Phe391Tyr) | |
| 3 | g.38605989A= | CA1358585930 | SCN5A | c.1300T= (p.Phe434=) c.1171T= (p.Phe391=) | |
| 3 | g.38605989A>C | CA352148451 | SCN5A | c.1300T>G (p.Phe434Val) c.1171T>G (p.Phe391Val) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38605989A>G | CA352148453 | SCN5A | c.1300T>C (p.Phe434Leu) c.1171T>C (p.Phe391Leu) | |
| 3 | g.38605989A>T | CA352148455 | SCN5A | c.1300T>A (p.Phe434Ile) c.1171T>A (p.Phe391Ile) | ClinVar |
| 3 | g.38605990G>A | CA057477 | SCN5A | c.1299C>T (p.Arg433=) c.1170C>T (p.Arg390=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38605990G>C | CA433137538 | SCN5A | c.1299C>G (p.Arg433=) c.1170C>G (p.Arg390=) | |
| 3 | g.38605990G= | CA1358585931 | SCN5A | c.1299C= (p.Arg433=) c.1170C= (p.Arg390=) | |
| 3 | g.38605990G>T | CA433137539 | SCN5A | c.1299C>A (p.Arg433=) c.1170C>A (p.Arg390=) | |
| 3 | g.38605991C>A | CA352148459 | SCN5A | c.1298G>T (p.Arg433Leu) c.1169G>T (p.Arg390Leu) | gnomAD v4 |
| 3 | g.38605991C= | CA1358585932 | SCN5A | c.1298G= (p.Arg433=) c.1169G= (p.Arg390=) | |
| 3 | g.38605991C>G | CA352148460 | SCN5A | c.1298G>C (p.Arg433Pro) c.1169G>C (p.Arg390Pro) | |
| 3 | g.38605991C>T | CA72940330 | SCN5A | c.1298G>A (p.Arg433His) c.1169G>A (p.Arg390His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38605992G>A | CA057469 | SCN5A | c.1297C>T (p.Arg433Cys) c.1168C>T (p.Arg390Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38605992G>C | CA352148463 | SCN5A | c.1297C>G (p.Arg433Gly) c.1168C>G (p.Arg390Gly) | |
| 3 | g.38605992G= | CA1358585933 | SCN5A | c.1297C= (p.Arg433=) c.1168C= (p.Arg390=) | |
| 3 | g.38605992G>T | CA057456 | SCN5A | c.1297C>A (p.Arg433Ser) c.1168C>A (p.Arg390Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38605993C>A | CA352148467 | SCN5A | c.1296G>T (p.Lys432Asn) c.1167G>T (p.Lys389Asn) | |
| 3 | g.38605993C= | CA1358585934 | SCN5A | c.1296G= (p.Lys432=) c.1167G= (p.Lys389=) | |
| 3 | g.38605993C>G | CA352148469 | SCN5A | c.1296G>C (p.Lys432Asn) c.1167G>C (p.Lys389Asn) | |
| 3 | g.38605993C>T | CA433137540 | SCN5A | c.1296G>A (p.Lys432=) c.1167G>A (p.Lys389=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38605994T>A | CA352148471 | SCN5A | c.1295A>T (p.Lys432Met) c.1166A>T (p.Lys389Met) | |
| 3 | g.38605994T>C | CA352148472 | SCN5A | c.1295A>G (p.Lys432Arg) c.1166A>G (p.Lys389Arg) | dbSNP |
| 3 | g.38605994T>G | CA352148473 | SCN5A | c.1295A>C (p.Lys432Thr) c.1166A>C (p.Lys389Thr) | |
| 3 | g.38605995T>A | CA352148477 | SCN5A | c.1294A>T (p.Lys432Ter) c.1165A>T (p.Lys389Ter) | dbSNP |
| 3 | g.38605995T>C | CA352148478 | SCN5A | c.1294A>G (p.Lys432Glu) c.1165A>G (p.Lys389Glu) | |
| 3 | g.38605995T>G | CA352148480 | SCN5A | c.1294A>C (p.Lys432Gln) c.1165A>C (p.Lys389Gln) | |
| 3 | g.38605995T= | CA1358585935 | SCN5A | c.1294A= (p.Lys432=) c.1165A= (p.Lys389=) | |
| 3 | g.38605996T>A | CA352148483 | SCN5A | c.1293A>T (p.Glu431Asp) c.1164A>T (p.Glu388Asp) | |
| 3 | g.38605996T>C | CA433137545 | SCN5A | c.1293A>G (p.Glu431=) c.1164A>G (p.Glu388=) | |
| 3 | g.38605996T>G | CA352148484 | SCN5A | c.1293A>C (p.Glu431Asp) c.1164A>C (p.Glu388Asp) | |
| 3 | g.38605997T>A | CA352148488 | SCN5A | c.1292A>T (p.Glu431Val) c.1163A>T (p.Glu388Val) | |
| 3 | g.38605997T>C | CA352148492 | SCN5A | c.1292A>G (p.Glu431Gly) c.1163A>G (p.Glu388Gly) | |
| 3 | g.38605997T>G | CA352148490 | SCN5A | c.1292A>C (p.Glu431Ala) c.1163A>C (p.Glu388Ala) | |
| 3 | g.38605998C>A | CA352148493 | SCN5A | c.1291G>T (p.Glu431Ter) c.1162G>T (p.Glu388Ter) | dbSNP |
| 3 | g.38605998C= | CA1358585936 | SCN5A | c.1291G= (p.Glu431=) c.1162G= (p.Glu388=) | |
| 3 | g.38605998C>G | CA352148495 | SCN5A | c.1291G>C (p.Glu431Gln) c.1162G>C (p.Glu388Gln) | |
| 3 | g.38605998C>T | CA352148498 | SCN5A | c.1291G>A (p.Glu431Lys) c.1162G>A (p.Glu388Lys) | |
| 3 | g.38605999C>A | CA352148501 | SCN5A | c.1290G>T (p.Lys430Asn) c.1161G>T (p.Lys387Asn) | |
| 3 | g.38605999C>G | CA352148502 | SCN5A | c.1290G>C (p.Lys430Asn) c.1161G>C (p.Lys387Asn) | |
| 3 | g.38605999C>T | CA433137547 | SCN5A | c.1290G>A (p.Lys430=) c.1161G>A (p.Lys387=) | |
| 3 | g.38606000T>A | CA352148504 | SCN5A | c.1289A>T (p.Lys430Met) c.1160A>T (p.Lys387Met) | |
| 3 | g.38606000T>C | CA352148506 | SCN5A | c.1289A>G (p.Lys430Arg) c.1160A>G (p.Lys387Arg) | |
| 3 | g.38606000T>G | CA352148508 | SCN5A | c.1289A>C (p.Lys430Thr) c.1160A>C (p.Lys387Thr) | |
| 3 | g.38606001T>A | CA352148510 | SCN5A | c.1288A>T (p.Lys430Ter) c.1159A>T (p.Lys387Ter) | dbSNP |
| 3 | g.38606001T>C | CA352148512 | SCN5A | c.1288A>G (p.Lys430Glu) c.1159A>G (p.Lys387Glu) | |
| 3 | g.38606001T>G | CA352148514 | SCN5A | c.1288A>C (p.Lys430Gln) c.1159A>C (p.Lys387Gln) | |
| 3 | g.38606001T= | CA1358585938 | SCN5A | c.1288A= (p.Lys430=) c.1159A= (p.Lys387=) | |
| 3 | g.38606001_38606004delinsTCTC | CA1358585937 | SCN5A | c.1285_1288delinsGAGA (p.Glu429=) c.1156_1159delinsGAGA (p.Glu386=) | |
| 3 | g.38606002C>A | CA352148519 | SCN5A | c.1287G>T (p.Glu429Asp) c.1158G>T (p.Glu386Asp) | ClinVar dbSNP |
| 3 | g.38606002C= | CA1358585939 | SCN5A | c.1287G= (p.Glu429=) c.1158G= (p.Glu386=) | |
| 3 | g.38606002C>G | CA352148521 | SCN5A | c.1287G>C (p.Glu429Asp) c.1158G>C (p.Glu386Asp) | |
| 3 | g.38606002C>T | CA057438 | SCN5A | c.1287G>A (p.Glu429=) c.1158G>A (p.Glu386=) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.38606005_38606007del | CA057434 | SCN5A | c.1285_1287del (p.Glu429del) c.1156_1158del (p.Glu386del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38606003T>A | CA352148525 | SCN5A | c.1286A>T (p.Glu429Val) c.1157A>T (p.Glu386Val) | |
| 3 | g.38606003T>C | CA352148523 | SCN5A | c.1286A>G (p.Glu429Gly) c.1157A>G (p.Glu386Gly) | ClinVar dbSNP |
| 3 | g.38606003T>G | CA352148526 | SCN5A | c.1286A>C (p.Glu429Ala) c.1157A>C (p.Glu386Ala) | |
| 3 | g.38606004C>A | CA352148528 | SCN5A | c.1285G>T (p.Glu429Ter) c.1156G>T (p.Glu386Ter) | dbSNP |
| 3 | g.38606004C= | CA1358585940 | SCN5A | c.1285G= (p.Glu429=) c.1156G= (p.Glu386=) | |
| 3 | g.38606004C>G | CA352148530 | SCN5A | c.1285G>C (p.Glu429Gln) c.1156G>C (p.Glu386Gln) | ClinVar dbSNP |
| 3 | g.38606004C>T | CA352148532 | SCN5A | c.1285G>A (p.Glu429Lys) c.1156G>A (p.Glu386Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38606005C>A | CA352148534 | SCN5A | c.1284G>T (p.Glu428Asp) c.1155G>T (p.Glu385Asp) | |
| 3 | g.38606005C>G | CA352148536 | SCN5A | c.1284G>C (p.Glu428Asp) c.1155G>C (p.Glu385Asp) | |
| 3 | g.38606005C>T | CA433137550 | SCN5A | c.1284G>A (p.Glu428=) c.1155G>A (p.Glu385=) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38606006T>A | CA352148538 | SCN5A | c.1283A>T (p.Glu428Val) c.1154A>T (p.Glu385Val) | |
| 3 | g.38606006T>C | CA352148540 | SCN5A | c.1283A>G (p.Glu428Gly) c.1154A>G (p.Glu385Gly) | |
| 3 | g.38606006T>G | CA352148541 | SCN5A | c.1283A>C (p.Glu428Ala) c.1154A>C (p.Glu385Ala) | |
| 3 | g.38606007C>A | CA352148542 | SCN5A | c.1282G>T (p.Glu428Ter) c.1153G>T (p.Glu385Ter) | dbSNP |
| 3 | g.38606007C= | CA1358585941 | SCN5A | c.1282G= (p.Glu428=) c.1153G= (p.Glu385=) | |
| 3 | g.38606007C>G | CA352148543 | SCN5A | c.1282G>C (p.Glu428Gln) c.1153G>C (p.Glu385Gln) | gnomAD v4 |
| 3 | g.38606007C>T | CA014651 | SCN5A | c.1282G>A (p.Glu428Lys) c.1153G>A (p.Glu385Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606008G>A | CA014633 | SCN5A | c.1281C>T (p.Thr427=) c.1152C>T (p.Thr384=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606008G>C | CA433137553 | SCN5A | c.1281C>G (p.Thr427=) c.1152C>G (p.Thr384=) | |
| 3 | g.38606008G= | CA1358585942 | SCN5A | c.1281C= (p.Thr427=) c.1152C= (p.Thr384=) | |
| 3 | g.38606008G>T | CA433137554 | SCN5A | c.1281C>A (p.Thr427=) c.1152C>A (p.Thr384=) | |
| 3 | g.38606009G>A | CA352148548 | SCN5A | c.1280C>T (p.Thr427Ile) c.1151C>T (p.Thr384Ile) | |
| 3 | g.38606009G>C | CA352148544 | SCN5A | c.1280C>G (p.Thr427Ser) c.1151C>G (p.Thr384Ser) | |
| 3 | g.38606009G= | CA1358585943 | SCN5A | c.1280C= (p.Thr427=) c.1151C= (p.Thr384=) | |
| 3 | g.38606009G>T | CA352148545 | SCN5A | c.1280C>A (p.Thr427Asn) c.1151C>A (p.Thr384Asn) | ClinVar dbSNP |
| 3 | g.38606010T>A | CA352148550 | SCN5A | c.1279A>T (p.Thr427Ser) c.1150A>T (p.Thr384Ser) | |
| 3 | g.38606010T>C | CA352148551 | SCN5A | c.1279A>G (p.Thr427Ala) c.1150A>G (p.Thr384Ala) | |
| 3 | g.38606010T>G | CA352148553 | SCN5A | c.1279A>C (p.Thr427Pro) c.1150A>C (p.Thr384Pro) | |
| 3 | g.38606011C>A | CA352148554 | SCN5A | c.1278G>T (p.Glu426Asp) c.1149G>T (p.Glu383Asp) | |
| 3 | g.38606011C>G | CA352148557 | SCN5A | c.1278G>C (p.Glu426Asp) c.1149G>C (p.Glu383Asp) | |
| 3 | g.38606011C>T | CA433137557 | SCN5A | c.1278G>A (p.Glu426=) c.1149G>A (p.Glu383=) | |
| 3 | g.38606012T>A | CA352148560 | SCN5A | c.1277A>T (p.Glu426Val) c.1148A>T (p.Glu383Val) | |
| 3 | g.38606012T>C | CA352148561 | SCN5A | c.1277A>G (p.Glu426Gly) c.1148A>G (p.Glu383Gly) | |
| 3 | g.38606012T>G | CA352148563 | SCN5A | c.1277A>C (p.Glu426Ala) c.1148A>C (p.Glu383Ala) |