| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63941940G>A | CA117835 | SCN4A | c.4342C>T (p.Arg1448Cys) | ClinVar dbSNP gnomAD v4 |
| 17 | g.63941940G>C | CA400616190 | SCN4A | c.4342C>G (p.Arg1448Gly) | ClinVar dbSNP |
| 17 | g.63941940G= | CA2270161188 | SCN4A | c.4342C= (p.Arg1448=) | |
| 17 | g.63941940G>T | CA350903 | SCN4A | c.4342C>A (p.Arg1448Ser) | ClinVar dbSNP |
| 17 | g.63941941G>A | CA501348542 | SCN4A | c.4341C>T (p.Phe1447=) | ClinVar dbSNP |
| 17 | g.63941941G>C | CA400616191 | SCN4A | c.4341C>G (p.Phe1447Leu) | |
| 17 | g.63941941G= | CA2270161189 | SCN4A | c.4341C= (p.Phe1447=) | |
| 17 | g.63941941G>T | CA400616192 | SCN4A | c.4341C>A (p.Phe1447Leu) | |
| 17 | g.63941942A>C | CA400616193 | SCN4A | c.4340T>G (p.Phe1447Cys) | |
| 17 | g.63941942A>G | CA400616194 | SCN4A | c.4340T>C (p.Phe1447Ser) | ClinVar |
| 17 | g.63941942A>T | CA400616195 | SCN4A | c.4340T>A (p.Phe1447Tyr) | |
| 17 | g.63941943A>C | CA400616196 | SCN4A | c.4339T>G (p.Phe1447Val) | |
| 17 | g.63941943A>G | CA400616197 | SCN4A | c.4339T>C (p.Phe1447Leu) | |
| 17 | g.63941943A>T | CA400616198 | SCN4A | c.4339T>A (p.Phe1447Ile) | |
| 17 | g.63941944C>A | CA501348544 | SCN4A | c.4338G>T (p.Leu1446=) | |
| 17 | g.63941944C= | CA2270161190 | SCN4A | c.4338G= (p.Leu1446=) | |
| 17 | g.63941944C>G | CA8708990 | SCN4A | c.4338G>C (p.Leu1446=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63941944C>T | CA292957369 | SCN4A | c.4338G>A (p.Leu1446=) | dbSNP |
| 17 | g.63941945A>C | CA400616201 | SCN4A | c.4337T>G (p.Leu1446Arg) | |
| 17 | g.63941945A>G | CA400616200 | SCN4A | c.4337T>C (p.Leu1446Pro) | |
| 17 | g.63941945A>T | CA400616199 | SCN4A | c.4337T>A (p.Leu1446Gln) | |
| 17 | g.63941946G>A | CA501348546 | SCN4A | c.4336C>T (p.Leu1446=) | |
| 17 | g.63941946G>C | CA400616202 | SCN4A | c.4336C>G (p.Leu1446Val) | |
| 17 | g.63941946G>T | CA400616203 | SCN4A | c.4336C>A (p.Leu1446Met) | |
| 17 | g.63941947C>A | CA501348548 | SCN4A | c.4335G>T (p.Thr1445=) | dbSNP gnomAD v4 |
| 17 | g.63941947C= | CA2270161191 | SCN4A | c.4335G= (p.Thr1445=) | |
| 17 | g.63941947C>G | CA501348547 | SCN4A | c.4335G>C (p.Thr1445=) | |
| 17 | g.63941947C>T | CA8708991 | SCN4A | c.4335G>A (p.Thr1445=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63941948G>A | CA8708992 | SCN4A | c.4334C>T (p.Thr1445Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63941948G>C | CA400616204 | SCN4A | c.4334C>G (p.Thr1445Arg) | |
| 17 | g.63941948G= | CA2270161192 | SCN4A | c.4334C= (p.Thr1445=) | |
| 17 | g.63941948G>T | CA400616205 | SCN4A | c.4334C>A (p.Thr1445Lys) | gnomAD v4 |
| 17 | g.63941949T>A | CA400616206 | SCN4A | c.4333A>T (p.Thr1445Ser) | |
| 17 | g.63941949T>C | CA400616207 | SCN4A | c.4333A>G (p.Thr1445Ala) | |
| 17 | g.63941949T>G | CA400616208 | SCN4A | c.4333A>C (p.Thr1445Pro) | |
| 17 | g.63941950G>A | CA501348549 | SCN4A | c.4332C>T (p.Pro1444=) | |
| 17 | g.63941950G>C | CA501348550 | SCN4A | c.4332C>G (p.Pro1444=) | |
| 17 | g.63941950G>T | CA501348551 | SCN4A | c.4332C>A (p.Pro1444=) | |
| 17 | g.63941951G>A | CA400616209 | SCN4A | c.4331C>T (p.Pro1444Leu) | |
| 17 | g.63941951G>C | CA400616210 | SCN4A | c.4331C>G (p.Pro1444Arg) | |
| 17 | g.63941951G>T | CA400616211 | SCN4A | c.4331C>A (p.Pro1444His) | |
| 17 | g.63941952G>A | CA400616212 | SCN4A | c.4330C>T (p.Pro1444Ser) | gnomAD v4 |
| 17 | g.63941952G>C | CA400616213 | SCN4A | c.4330C>G (p.Pro1444Ala) | |
| 17 | g.63941952G= | CA2270161193 | SCN4A | c.4330C= (p.Pro1444=) | |
| 17 | g.63941952G>T | CA400616214 | SCN4A | c.4330C>A (p.Pro1444Thr) | dbSNP |
| 17 | g.63941953T>A | CA501348553 | SCN4A | c.4329A>T (p.Ser1443=) | |
| 17 | g.63941953T>C | CA501348555 | SCN4A | c.4329A>G (p.Ser1443=) | |
| 17 | g.63941953T>G | CA501348554 | SCN4A | c.4329A>C (p.Ser1443=) | |
| 17 | g.63941954G>A | CA400616217 | SCN4A | c.4328C>T (p.Ser1443Leu) | gnomAD v4 |
| 17 | g.63941954G>C | CA400616216 | SCN4A | c.4328C>G (p.Ser1443Ter) |