17 | g.63957514del | CA2639315291 | SCN4A | c.2026del (p.Val676SerfsTer11)
| gnomAD v4 |
17 | g.63957514C>A | CA400631446 | SCN4A | c.2024G>T (p.Arg675Leu)
| |
17 | g.63957514C= | CA2270168708 | SCN4A | c.2024G= (p.Arg675=)
| |
17 | g.63957514C>G | CA400631448 | SCN4A | c.2024G>C (p.Arg675Pro)
| |
17 | g.63957514C>T | CA117851 | SCN4A | c.2024G>A (p.Arg675Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63957515G>A | CA117839 | SCN4A | c.2023C>T (p.Arg675Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63957515G>C | CA117850 | SCN4A | c.2023C>G (p.Arg675Gly)
| ClinVar dbSNP |
17 | g.63957515G= | CA2270168709 | SCN4A | c.2023C= (p.Arg675=)
| |
17 | g.63957515G>T | CA501225612 | SCN4A | c.2023C>A (p.Arg675=)
| |
17 | g.63957516C>A | CA501225613 | SCN4A | c.2022G>T (p.Leu674=)
| |
17 | g.63957516C>G | CA501225614 | SCN4A | c.2022G>C (p.Leu674=)
| |
17 | g.63957516C>T | CA501225615 | SCN4A | c.2022G>A (p.Leu674=)
| |
17 | g.63957517A>C | CA400631452 | SCN4A | c.2021T>G (p.Leu674Arg)
| |
17 | g.63957517A>G | CA400631453 | SCN4A | c.2021T>C (p.Leu674Pro)
| |
17 | g.63957517A>T | CA400631455 | SCN4A | c.2021T>A (p.Leu674Gln)
| |
17 | g.63957518G>A | CA501225616 | SCN4A | c.2020C>T (p.Leu674=)
| |
17 | g.63957518G>C | CA400631457 | SCN4A | c.2020C>G (p.Leu674Val)
| |
17 | g.63957518G>T | CA400631459 | SCN4A | c.2020C>A (p.Leu674Met)
| |
17 | g.63957519del | CA2639315332 | SCN4A | c.2020-1del (n.2020-1del)
| gnomAD v4 |
17 | g.63957519C>A | CA400631460 | SCN4A | c.2020-1G>T (n.2020-1G>T)
| |
17 | g.63957519C>G | CA400631462 | SCN4A | c.2020-1G>C (n.2020-1G>C)
| |
17 | g.63957519C>T | CA400631464 | SCN4A | c.2020-1G>A (n.2020-1G>A)
| COSMIC |
17 | g.63957520T>A | CA400631466 | SCN4A | c.2020-2A>T (n.2020-2A>T)
| |
17 | g.63957520T>C | CA400631467 | SCN4A | c.2020-2A>G (n.2020-2A>G)
| |
17 | g.63957520T>G | CA400631470 | SCN4A | c.2020-2A>C (n.2020-2A>C)
| gnomAD v4 |
17 | g.63957521G>A | CA2639315338 | SCN4A | c.2020-3C>T (n.2020-3C>T)
| gnomAD v4 |
17 | g.63957521G>C | CA2576355844 | SCN4A | c.2020-3C>G (n.2020-3C>G)
| |
17 | g.63957521dup | CA2576355843 | SCN4A | c.2020-3dup (n.2020-3dup)
| |
17 | g.63957522C>A | CA2639315340 | SCN4A | c.2020-4G>T (n.2020-4G>T)
| ClinVar gnomAD v4 |
17 | g.63957523C>A | CA2639315343 | SCN4A | c.2020-5G>T (n.2020-5G>T)
| gnomAD v4 |
17 | g.63957523C= | CA2270168710 | SCN4A | c.2020-5G= (n.2020-5G=)
| |
17 | g.63957523C>T | CA292966447 | SCN4A | c.2020-5G>A (n.2020-5G>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63957525A>G | CA2576355845 | SCN4A | c.2020-7T>C (n.2020-7T>C)
| |
17 | g.63957526G>T | CA2639315380 | SCN4A | c.2020-8C>A (n.2020-8C>A)
| gnomAD v4 |
17 | g.63957527C>T | CA2639315381 | SCN4A | c.2020-9G>A (n.2020-9G>A)
| gnomAD v4 |
17 | g.63957527_63957531delinsCAGGG | CA2270168711 | SCN4A | c.2020-13_2020-9delinsCCCTG (n.2020-13_2020-9delinsCCCTG)
| |
17 | g.63957532_63957535del | CA627150565 | SCN4A | c.2020-13_2020-10del (n.2020-13_2020-10del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63957529G>A | CA2639315383 | SCN4A | c.2020-11C>T (n.2020-11C>T)
| gnomAD v4 |
17 | g.63957529G>C | CA2639315384 | SCN4A | c.2020-11C>G (n.2020-11C>G)
| gnomAD v4 |
17 | g.63957531G>T | CA2639315388 | SCN4A | c.2020-13C>A (n.2020-13C>A)
| gnomAD v4 |
17 | g.63957532A>G | CA2639315389 | SCN4A | c.2020-14T>C (n.2020-14T>C)
| gnomAD v4 |
17 | g.63957533G>A | CA2639315391 | SCN4A | c.2020-15C>T (n.2020-15C>T)
| gnomAD v4 |
17 | g.63957533G>T | CA2639315392 | SCN4A | c.2020-15C>A (n.2020-15C>A)
| gnomAD v4 |
17 | g.63957535G>A | CA2270168713 | SCN4A | c.2020-17C>T (n.2020-17C>T)
| dbSNP |
17 | g.63957535G= | CA2270168712 | SCN4A | c.2020-17C= (n.2020-17C=)
| |
17 | g.63957535G>T | CA774000201 | SCN4A | c.2020-17C>A (n.2020-17C>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63957536C>T | CA2576355846 | SCN4A | c.2020-18G>A (n.2020-18G>A)
| ClinVar gnomAD v4 |
17 | g.63957538A>G | CA2639315393 | SCN4A | c.2020-20T>C (n.2020-20T>C)
| gnomAD v4 |
17 | g.63957539G>A | CA627150566 | SCN4A | c.2020-21C>T (n.2020-21C>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63957539G= | CA2270168714 | SCN4A | c.2020-21C= (n.2020-21C=)
| |