Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.63947100C>A | CA400620459 | SCN4A | c.3386G>T (p.Arg1129Leu) | |
17 | g.63947100C= | CA2270163784 | SCN4A | c.3386G= (p.Arg1129=) | |
17 | g.63947100C>G | CA292962517 | SCN4A | c.3386G>C (p.Arg1129Pro) | ClinVar dbSNP |
17 | g.63947100C>T | CA345719 | SCN4A | c.3386G>A (p.Arg1129Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63947101G>A | CA8709295 | SCN4A | c.3385C>T (p.Arg1129Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.63947101G>C | CA400620464 | SCN4A | c.3385C>G (p.Arg1129Gly) | |
17 | g.63947101G= | CA2270163785 | SCN4A | c.3385C= (p.Arg1129=) | |
17 | g.63947101G>T | CA501220230 | SCN4A | c.3385C>A (p.Arg1129=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63947102C>A | CA501220232 | SCN4A | c.3384G>T (p.Leu1128=) | |
17 | g.63947102C>G | CA501220234 | SCN4A | c.3384G>C (p.Leu1128=) | |
17 | g.63947102C>T | CA501220236 | SCN4A | c.3384G>A (p.Leu1128=) | |
17 | g.63947103A>C | CA400620470 | SCN4A | c.3383T>G (p.Leu1128Arg) | |
17 | g.63947103A>G | CA400620474 | SCN4A | c.3383T>C (p.Leu1128Pro) | gnomAD v4 |
17 | g.63947103A>T | CA400620476 | SCN4A | c.3383T>A (p.Leu1128Gln) | |
17 | g.63947104G>A | CA501220237 | SCN4A | c.3382C>T (p.Leu1128=) | |
17 | g.63947104G>C | CA400620480 | SCN4A | c.3382C>G (p.Leu1128Val) | |
17 | g.63947104G>T | CA400620482 | SCN4A | c.3382C>A (p.Leu1128Met) | |
17 | g.63947105G>A | CA501220239 | SCN4A | c.3381C>T (p.Ser1127=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63947105G>C | CA501220240 | SCN4A | c.3381C>G (p.Ser1127=) | |
17 | g.63947105G= | CA2270163786 | SCN4A | c.3381C= (p.Ser1127=) | |
17 | g.63947105G>T | CA501220238 | SCN4A | c.3381C>A (p.Ser1127=) | |
17 | g.63947106G>A | CA400620484 | SCN4A | c.3380C>T (p.Ser1127Phe) | gnomAD v4 |
17 | g.63947106G>C | CA400620487 | SCN4A | c.3380C>G (p.Ser1127Cys) | |
17 | g.63947106G>T | CA400620490 | SCN4A | c.3380C>A (p.Ser1127Tyr) | |
17 | g.63947107A>C | CA400620495 | SCN4A | c.3379T>G (p.Ser1127Ala) | |
17 | g.63947107A>G | CA400620498 | SCN4A | c.3379T>C (p.Ser1127Pro) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63947107A>T | CA400620501 | SCN4A | c.3379T>A (p.Ser1127Thr) | gnomAD v4 |
17 | g.63947108T>A | CA400620506 | SCN4A | c.3378A>T (p.Lys1126Asn) | |
17 | g.63947108T>C | CA501220243 | SCN4A | c.3378A>G (p.Lys1126=) | |
17 | g.63947108T>G | CA400620508 | SCN4A | c.3378A>C (p.Lys1126Asn) | |
17 | g.63947110del | CA2576355668 | SCN4A | c.3378del (p.Lys1126AsnfsTer12) | |
17 | g.63947109T>A | CA400620513 | SCN4A | c.3377A>T (p.Lys1126Ile) | |
17 | g.63947109T>C | CA400620516 | SCN4A | c.3377A>G (p.Lys1126Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63947109T>G | CA400620520 | SCN4A | c.3377A>C (p.Lys1126Thr) | |
17 | g.63947109T= | CA2270163787 | SCN4A | c.3377A= (p.Lys1126=) | |
17 | g.63947110T>A | CA400620523 | SCN4A | c.3376A>T (p.Lys1126Ter) | dbSNP |
17 | g.63947110T>C | CA400620524 | SCN4A | c.3376A>G (p.Lys1126Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63947110T>G | CA400620527 | SCN4A | c.3376A>C (p.Lys1126Gln) | gnomAD v4 |
17 | g.63947110T= | CA2270163788 | SCN4A | c.3376A= (p.Lys1126=) | |
17 | g.63947111G>A | CA501220249 | SCN4A | c.3375C>T (p.Ile1125=) | |
17 | g.63947111G>C | CA400620530 | SCN4A | c.3375C>G (p.Ile1125Met) | |
17 | g.63947111G>T | CA501220250 | SCN4A | c.3375C>A (p.Ile1125=) | |
17 | g.63947112A= | CA2270163789 | SCN4A | c.3374T= (p.Ile1125=) | |
17 | g.63947112A>C | CA400620534 | SCN4A | c.3374T>G (p.Ile1125Ser) | gnomAD v4 |
17 | g.63947112A>G | CA400620537 | SCN4A | c.3374T>C (p.Ile1125Thr) | |
17 | g.63947112A>T | CA400620541 | SCN4A | c.3374T>A (p.Ile1125Asn) | dbSNP |
17 | g.63947113del | CA2639315910 | SCN4A | c.3373del (p.Ile1125SerfsTer13) | gnomAD v4 |
17 | g.63947113T>A | CA400620544 | SCN4A | c.3373A>T (p.Ile1125Phe) | |
17 | g.63947113T>C | CA400620546 | SCN4A | c.3373A>G (p.Ile1125Val) | |
17 | g.63947113T>G | CA400620549 | SCN4A | c.3373A>C (p.Ile1125Leu) | gnomAD v4 |