| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63941957A= | CA2270161194 | SCN4A | c.4325T= (p.Val1442=) | |
| 17 | g.63941957A>C | CA400616221 | SCN4A | c.4325T>G (p.Val1442Gly) | |
| 17 | g.63941957A>G | CA400616222 | SCN4A | c.4325T>C (p.Val1442Ala) | |
| 17 | g.63941957A>T | CA117848 | SCN4A | c.4325T>A (p.Val1442Glu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.63941958C>A | CA400616223 | SCN4A | c.4324G>T (p.Val1442Leu) | gnomAD v4 |
| 17 | g.63941958C= | CA2270161195 | SCN4A | c.4324G= (p.Val1442=) | |
| 17 | g.63941958C>G | CA400616224 | SCN4A | c.4324G>C (p.Val1442Leu) | gnomAD v4 |
| 17 | g.63941958C>T | CA8708993 | SCN4A | c.4324G>A (p.Val1442Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63941959G>A | CA8708994 | SCN4A | c.4323C>T (p.Phe1441=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.63941959G>C | CA400616225 | SCN4A | c.4323C>G (p.Phe1441Leu) | |
| 17 | g.63941959G= | CA2270161196 | SCN4A | c.4323C= (p.Phe1441=) | |
| 17 | g.63941959G>T | CA400616226 | SCN4A | c.4323C>A (p.Phe1441Leu) | gnomAD v4 |
| 17 | g.63941960A>C | CA400616228 | SCN4A | c.4322T>G (p.Phe1441Cys) | |
| 17 | g.63941960A>G | CA400616229 | SCN4A | c.4322T>C (p.Phe1441Ser) | |
| 17 | g.63941960A>T | CA400616227 | SCN4A | c.4322T>A (p.Phe1441Tyr) | |
| 17 | g.63941961A= | CA2270161197 | SCN4A | c.4321T= (p.Phe1441=) | |
| 17 | g.63941961A>C | CA400616230 | SCN4A | c.4321T>G (p.Phe1441Val) | |
| 17 | g.63941961A>G | CA400616231 | SCN4A | c.4321T>C (p.Phe1441Leu) | |
| 17 | g.63941961A>T | CA400616232 | SCN4A | c.4321T>A (p.Phe1441Ile) | dbSNP gnomAD v4 |
| 17 | g.63941962G>A | CA292957400 | SCN4A | c.4320C>T (p.Tyr1440=) | dbSNP |
| 17 | g.63941962G>C | CA400616233 | SCN4A | c.4320C>G (p.Tyr1440Ter) | |
| 17 | g.63941962G= | CA2270161198 | SCN4A | c.4320C= (p.Tyr1440=) | |
| 17 | g.63941962G>T | CA400616234 | SCN4A | c.4320C>A (p.Tyr1440Ter) | |
| 17 | g.63941963T>A | CA400616235 | SCN4A | c.4319A>T (p.Tyr1440Phe) | |
| 17 | g.63941963T>C | CA400616236 | SCN4A | c.4319A>G (p.Tyr1440Cys) | |
| 17 | g.63941963T>G | CA400616237 | SCN4A | c.4319A>C (p.Tyr1440Ser) | |
| 17 | g.63941964A>C | CA400616238 | SCN4A | c.4318T>G (p.Tyr1440Asp) | |
| 17 | g.63941964A>G | CA400616239 | SCN4A | c.4318T>C (p.Tyr1440His) | |
| 17 | g.63941964A>T | CA400616240 | SCN4A | c.4318T>A (p.Tyr1440Asn) | |
| 17 | g.63941965C>A | CA400616241 | SCN4A | c.4317G>T (p.Lys1439Asn) | gnomAD v4 |
| 17 | g.63941965C>G | CA400616242 | SCN4A | c.4317G>C (p.Lys1439Asn) | |
| 17 | g.63941965C>T | CA501348580 | SCN4A | c.4317G>A (p.Lys1439=) | gnomAD v4 |
| 17 | g.63941966T>A | CA400616245 | SCN4A | c.4316A>T (p.Lys1439Met) | |
| 17 | g.63941966T>C | CA400616244 | SCN4A | c.4316A>G (p.Lys1439Arg) | |
| 17 | g.63941966T>G | CA400616243 | SCN4A | c.4316A>C (p.Lys1439Thr) | |
| 17 | g.63941967T>A | CA400616246 | SCN4A | c.4315A>T (p.Lys1439Ter) | dbSNP |
| 17 | g.63941967T>C | CA400616247 | SCN4A | c.4315A>G (p.Lys1439Glu) | gnomAD v4 |
| 17 | g.63941967T>G | CA400616248 | SCN4A | c.4315A>C (p.Lys1439Gln) | |
| 17 | g.63941967T= | CA2270161199 | SCN4A | c.4315A= (p.Lys1439=) | |
| 17 | g.63941968C>A | CA400616249 | SCN4A | c.4314G>T (p.Gln1438His) | gnomAD v4 |
| 17 | g.63941968C= | CA2270161200 | SCN4A | c.4314G= (p.Gln1438=) | |
| 17 | g.63941968C>G | CA400616250 | SCN4A | c.4314G>C (p.Gln1438His) | |
| 17 | g.63941968C>T | CA501348584 | SCN4A | c.4314G>A (p.Gln1438=) | dbSNP gnomAD v2 |
| 17 | g.63941969T>A | CA400616251 | SCN4A | c.4313A>T (p.Gln1438Leu) | |
| 17 | g.63941969T>C | CA8708995 | SCN4A | c.4313A>G (p.Gln1438Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63941969T>G | CA400616252 | SCN4A | c.4313A>C (p.Gln1438Pro) | |
| 17 | g.63941969T= | CA2270161201 | SCN4A | c.4313A= (p.Gln1438=) | |
| 17 | g.63941970G>A | CA400616253 | SCN4A | c.4312C>T (p.Gln1438Ter) | |
| 17 | g.63941970G>C | CA400616254 | SCN4A | c.4312C>G (p.Gln1438Glu) | |
| 17 | g.63941970G>T | CA400616255 | SCN4A | c.4312C>A (p.Gln1438Lys) | gnomAD v4 |