Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35033666C>A | CA507298135 | SCN1B | c.375C>A (p.Arg125=) c.276C>A (p.Arg92=) c.208-46C>A (n.208-46C>A) n.384C>A | |
19 | g.35033666C>G | CA507298136 | SCN1B | c.375C>G (p.Arg125=) c.276C>G (p.Arg92=) c.208-46C>G (n.208-46C>G) n.384C>G | |
19 | g.35033666C>T | CA507298137 | SCN1B | c.375C>T (p.Arg125=) c.276C>T (p.Arg92=) c.208-46C>T (n.208-46C>T) n.384C>T | |
19 | g.35033667C>A | CA405328898 | SCN1B | c.376C>A (p.Leu126Met) c.277C>A (p.Leu93Met) c.208-45C>A (n.208-45C>A) n.385C>A | gnomAD v4 |
19 | g.35033667C>G | CA405328899 | SCN1B | c.376C>G (p.Leu126Val) c.277C>G (p.Leu93Val) c.208-45C>G (n.208-45C>G) n.385C>G | |
19 | g.35033667C>T | CA507298138 | SCN1B | c.376C>T (p.Leu126=) c.277C>T (p.Leu93=) c.208-45C>T (n.208-45C>T) n.385C>T | |
19 | g.35033668T>A | CA405328900 | SCN1B | c.377T>A (p.Leu126Gln) c.278T>A (p.Leu93Gln) c.208-44T>A (n.208-44T>A) n.386T>A | |
19 | g.35033668T>C | CA405328901 | SCN1B | c.377T>C (p.Leu126Pro) c.278T>C (p.Leu93Pro) c.208-44T>C (n.208-44T>C) n.386T>C | |
19 | g.35033668T>G | CA405328902 | SCN1B | c.377T>G (p.Leu126Arg) c.278T>G (p.Leu93Arg) c.208-44T>G (n.208-44T>G) n.386T>G | |
19 | g.35033669G>A | CA507298140 | SCN1B | c.378G>A (p.Leu126=) c.279G>A (p.Leu93=) c.208-43G>A (n.208-43G>A) n.387G>A | ClinVar |
19 | g.35033669G>C | CA507298142 | SCN1B | c.378G>C (p.Leu126=) c.279G>C (p.Leu93=) c.208-43G>C (n.208-43G>C) n.387G>C | |
19 | g.35033669G>T | CA507298144 | SCN1B | c.378G>T (p.Leu126=) c.279G>T (p.Leu93=) c.208-43G>T (n.208-43G>T) n.387G>T | |
19 | g.35033670C>A | CA405328905 | SCN1B | c.379C>A (p.Leu127Ile) c.280C>A (p.Leu94Ile) c.208-42C>A (n.208-42C>A) n.388C>A | |
19 | g.35033670C= | CA2333467041 | SCN1B | c.379C= (p.Leu127=) c.280C= (p.Leu94=) c.208-42C= (n.208-42C=) n.388C= | |
19 | g.35033670C>G | CA405328903 | SCN1B | c.379C>G (p.Leu127Val) c.280C>G (p.Leu94Val) c.208-42C>G (n.208-42C>G) n.388C>G | |
19 | g.35033670C>T | CA405328904 | SCN1B | c.379C>T (p.Leu127Phe) c.280C>T (p.Leu94Phe) c.208-42C>T (n.208-42C>T) n.388C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35033670_35033673delinsCTCT | CA2333467040 | SCN1B | c.379_382delinsCTCT (p.Leu127=) c.280_283delinsCTCT (p.Leu94=) c.208-42_208-39delinsCTCT (n.208-42_208-39delinsCTCT) n.388_391delinsCTCT | |
19 | g.35033671T>A | CA405328906 | SCN1B | c.380T>A (p.Leu127His) c.281T>A (p.Leu94His) c.208-41T>A (n.208-41T>A) n.389T>A | |
19 | g.35033671T>C | CA405328907 | SCN1B | c.380T>C (p.Leu127Pro) c.281T>C (p.Leu94Pro) c.208-41T>C (n.208-41T>C) n.389T>C | |
19 | g.35033671T>G | CA405328908 | SCN1B | c.380T>G (p.Leu127Arg) c.281T>G (p.Leu94Arg) c.208-41T>G (n.208-41T>G) n.389T>G | |
19 | g.35033676_35033678del | CA9372009 | SCN1B | c.385_387del (p.Phe129del) c.286_288del (p.Phe96del) c.208-36_208-34del (n.208-36_208-34del) n.394_396del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35033672C>A | CA507298147 | SCN1B | c.381C>A (p.Leu127=) c.282C>A (p.Leu94=) c.208-40C>A (n.208-40C>A) n.390C>A | |
19 | g.35033672C= | CA2333467042 | SCN1B | c.381C= (p.Leu127=) c.282C= (p.Leu94=) c.208-40C= (n.208-40C=) n.390C= | |
19 | g.35033672C>G | CA507298148 | SCN1B | c.381C>G (p.Leu127=) c.282C>G (p.Leu94=) c.208-40C>G (n.208-40C>G) n.390C>G | ClinVar |
19 | g.35033672C>T | CA507298149 | SCN1B | c.381C>T (p.Leu127=) c.282C>T (p.Leu94=) c.208-40C>T (n.208-40C>T) n.390C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35033673T>A | CA405328909 | SCN1B | c.382T>A (p.Phe128Ile) c.283T>A (p.Phe95Ile) c.208-39T>A (n.208-39T>A) n.391T>A | |
19 | g.35033673T>C | CA405328910 | SCN1B | c.382T>C (p.Phe128Leu) c.283T>C (p.Phe95Leu) c.208-39T>C (n.208-39T>C) n.391T>C | |
19 | g.35033673T>G | CA405328911 | SCN1B | c.382T>G (p.Phe128Val) c.283T>G (p.Phe95Val) c.208-39T>G (n.208-39T>G) n.391T>G | |
19 | g.35033674T>A | CA405328912 | SCN1B | c.383T>A (p.Phe128Tyr) c.284T>A (p.Phe95Tyr) c.208-38T>A (n.208-38T>A) n.392T>A | |
19 | g.35033674T>C | CA405328913 | SCN1B | c.383T>C (p.Phe128Ser) c.284T>C (p.Phe95Ser) c.208-38T>C (n.208-38T>C) n.392T>C | |
19 | g.35033674T>G | CA405328914 | SCN1B | c.383T>G (p.Phe128Cys) c.284T>G (p.Phe95Cys) c.208-38T>G (n.208-38T>G) n.392T>G | |
19 | g.35033675C>A | CA405328915 | SCN1B | c.384C>A (p.Phe128Leu) c.285C>A (p.Phe95Leu) c.208-37C>A (n.208-37C>A) n.393C>A | |
19 | g.35033675C>G | CA405328916 | SCN1B | c.384C>G (p.Phe128Leu) c.285C>G (p.Phe95Leu) c.208-37C>G (n.208-37C>G) n.393C>G | |
19 | g.35033675C>T | CA507298154 | SCN1B | c.384C>T (p.Phe128=) c.285C>T (p.Phe95=) c.208-37C>T (n.208-37C>T) n.393C>T | |
19 | g.35033676T>A | CA405328918 | SCN1B | c.385T>A (p.Phe129Ile) c.286T>A (p.Phe96Ile) c.208-36T>A (n.208-36T>A) n.394T>A | |
19 | g.35033676T>C | CA405328919 | SCN1B | c.385T>C (p.Phe129Leu) c.286T>C (p.Phe96Leu) c.208-36T>C (n.208-36T>C) n.394T>C | |
19 | g.35033676T>G | CA405328917 | SCN1B | c.385T>G (p.Phe129Val) c.286T>G (p.Phe96Val) c.208-36T>G (n.208-36T>G) n.394T>G | |
19 | g.35033677T>A | CA405328920 | SCN1B | c.386T>A (p.Phe129Tyr) c.287T>A (p.Phe96Tyr) c.208-35T>A (n.208-35T>A) n.395T>A | COSMIC COSMIC |
19 | g.35033677T>C | CA405328921 | SCN1B | c.386T>C (p.Phe129Ser) c.287T>C (p.Phe96Ser) c.208-35T>C (n.208-35T>C) n.395T>C | |
19 | g.35033677T>G | CA405328922 | SCN1B | c.386T>G (p.Phe129Cys) c.287T>G (p.Phe96Cys) c.208-35T>G (n.208-35T>G) n.395T>G | |
19 | g.35033678C>A | CA405328923 | SCN1B | c.387C>A (p.Phe129Leu) c.288C>A (p.Phe96Leu) c.208-34C>A (n.208-34C>A) n.396C>A | dbSNP |
19 | g.35033678C= | CA2333467043 | SCN1B | c.387C= (p.Phe129=) c.288C= (p.Phe96=) c.208-34C= (n.208-34C=) n.396C= | |
19 | g.35033678C>G | CA405328924 | SCN1B | c.387C>G (p.Phe129Leu) c.288C>G (p.Phe96Leu) c.208-34C>G (n.208-34C>G) n.396C>G | |
19 | g.35033678C>T | CA307703677 | SCN1B | c.387C>T (p.Phe129=) c.288C>T (p.Phe96=) c.208-34C>T (n.208-34C>T) n.396C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.35033679G>A | CA405328925 | SCN1B | c.388G>A (p.Glu130Lys) c.289G>A (p.Glu97Lys) c.208-33G>A (n.208-33G>A) n.397G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.35033679G>C | CA405328926 | SCN1B | c.388G>C (p.Glu130Gln) c.289G>C (p.Glu97Gln) c.208-33G>C (n.208-33G>C) n.397G>C | |
19 | g.35033679G= | CA2333467044 | SCN1B | c.388G= (p.Glu130=) c.289G= (p.Glu97=) c.208-33G= (n.208-33G=) n.397G= | |
19 | g.35033679G>T | CA405328927 | SCN1B | c.388G>T (p.Glu130Ter) c.289G>T (p.Glu97Ter) c.208-33G>T (n.208-33G>T) n.397G>T | dbSNP |
19 | g.35033680A= | CA2333467045 | SCN1B | c.389A= (p.Glu130=) c.290A= (p.Glu97=) c.208-32A= (n.208-32A=) n.398A= | |
19 | g.35033680A>C | CA405328928 | SCN1B | c.389A>C (p.Glu130Ala) c.290A>C (p.Glu97Ala) c.208-32A>C (n.208-32A>C) n.398A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |