Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.63951866_63951868del | CA2639313112 | SCN4A | c.2411_2413del (p.Ser804del) | gnomAD v4 |
17 | g.63951866G>A | CA117838 | SCN4A | c.2411C>T (p.Ser804Phe) | ClinVar dbSNP gnomAD v4 |
17 | g.63951866G>C | CA400627209 | SCN4A | c.2411C>G (p.Ser804Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63951866G= | CA2270166115 | SCN4A | c.2411C= (p.Ser804=) | |
17 | g.63951866G>T | CA400627210 | SCN4A | c.2411C>A (p.Ser804Tyr) | gnomAD v4 |
17 | g.63951867A>C | CA400627211 | SCN4A | c.2410T>G (p.Ser804Ala) | |
17 | g.63951867A>G | CA400627212 | SCN4A | c.2410T>C (p.Ser804Pro) | gnomAD v4 |
17 | g.63951867A>T | CA400627213 | SCN4A | c.2410T>A (p.Ser804Thr) | |
17 | g.63951868G>A | CA501224863 | SCN4A | c.2409C>T (p.Ser803=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63951868G>C | CA400627214 | SCN4A | c.2409C>G (p.Ser803Arg) | gnomAD v4 |
17 | g.63951868G= | CA2270166116 | SCN4A | c.2409C= (p.Ser803=) | |
17 | g.63951868G>T | CA400627215 | SCN4A | c.2409C>A (p.Ser803Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63951869C>A | CA400627216 | SCN4A | c.2408G>T (p.Ser803Ile) | gnomAD v4 |
17 | g.63951869C>G | CA400627217 | SCN4A | c.2408G>C (p.Ser803Thr) | |
17 | g.63951869C>T | CA400627218 | SCN4A | c.2408G>A (p.Ser803Asn) | |
17 | g.63951870T>A | CA400627221 | SCN4A | c.2407A>T (p.Ser803Cys) | gnomAD v4 |
17 | g.63951870T>C | CA400627220 | SCN4A | c.2407A>G (p.Ser803Gly) | |
17 | g.63951870T>G | CA400627219 | SCN4A | c.2407A>C (p.Ser803Arg) | |
17 | g.63951871C>A | CA501224867 | SCN4A | c.2406G>T (p.Leu802=) | gnomAD v4 |
17 | g.63951871C>G | CA501224868 | SCN4A | c.2406G>C (p.Leu802=) | |
17 | g.63951871C>T | CA501224869 | SCN4A | c.2406G>A (p.Leu802=) | gnomAD v4 |
17 | g.63951877_63951879del | CA2580613251 | SCN4A | c.2404_2406del (p.Leu802del) | ClinVar |
17 | g.63951872A>C | CA400627222 | SCN4A | c.2405T>G (p.Leu802Arg) | |
17 | g.63951872A>G | CA400627223 | SCN4A | c.2405T>C (p.Leu802Pro) | gnomAD v4 |
17 | g.63951872A>T | CA400627224 | SCN4A | c.2405T>A (p.Leu802Gln) | |
17 | g.63951873G>A | CA501224871 | SCN4A | c.2404C>T (p.Leu802=) | gnomAD v4 |
17 | g.63951873G>C | CA400627225 | SCN4A | c.2404C>G (p.Leu802Val) | |
17 | g.63951873G>T | CA400627226 | SCN4A | c.2404C>A (p.Leu802Met) | gnomAD v4 |
17 | g.63951874C>A | CA501224873 | SCN4A | c.2403G>T (p.Leu801=) | gnomAD v4 |
17 | g.63951874C= | CA2270166117 | SCN4A | c.2403G= (p.Leu801=) | |
17 | g.63951874C>G | CA501224874 | SCN4A | c.2403G>C (p.Leu801=) | |
17 | g.63951874C>T | CA501224875 | SCN4A | c.2403G>A (p.Leu801=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63951875A>C | CA400627227 | SCN4A | c.2402T>G (p.Leu801Arg) | |
17 | g.63951875A>G | CA400627228 | SCN4A | c.2402T>C (p.Leu801Pro) | gnomAD v4 |
17 | g.63951875A>T | CA400627229 | SCN4A | c.2402T>A (p.Leu801Gln) | |
17 | g.63951876G>A | CA501224878 | SCN4A | c.2401C>T (p.Leu801=) | ClinVar gnomAD v4 |
17 | g.63951876G>C | CA400627230 | SCN4A | c.2401C>G (p.Leu801Val) | |
17 | g.63951876G>T | CA400627231 | SCN4A | c.2401C>A (p.Leu801Met) | gnomAD v4 |
17 | g.63951877C>A | CA501224880 | SCN4A | c.2400G>T (p.Leu800=) | gnomAD v4 |
17 | g.63951877C= | CA2270166118 | SCN4A | c.2400G= (p.Leu800=) | |
17 | g.63951877C>G | CA501224881 | SCN4A | c.2400G>C (p.Leu800=) | |
17 | g.63951877C>T | CA501224882 | SCN4A | c.2400G>A (p.Leu800=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63951878A>C | CA400627232 | SCN4A | c.2399T>G (p.Leu800Arg) | |
17 | g.63951878A>G | CA400627233 | SCN4A | c.2399T>C (p.Leu800Pro) | gnomAD v4 |
17 | g.63951878A>T | CA400627234 | SCN4A | c.2399T>A (p.Leu800Gln) | gnomAD v4 |
17 | g.63951879G>A | CA501224886 | SCN4A | c.2398C>T (p.Leu800=) | |
17 | g.63951879G>C | CA400627235 | SCN4A | c.2398C>G (p.Leu800Val) | |
17 | g.63951879G>T | CA400627236 | SCN4A | c.2398C>A (p.Leu800Met) | gnomAD v4 |
17 | g.63951880A>C | CA501224891 | SCN4A | c.2397T>G (p.Ala799=) | |
17 | g.63951880A>G | CA501224892 | SCN4A | c.2397T>C (p.Ala799=) |