Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35033654C>A | CA405328872 | SCN1B | c.363C>A (p.Cys121Ter) c.264C>A (p.Cys88Ter) c.208-58C>A (n.208-58C>A) n.372C>A | dbSNP |
19 | g.35033654C= | CA2333467034 | SCN1B | c.363C= (p.Cys121=) c.264C= (p.Cys88=) c.208-58C= (n.208-58C=) n.372C= | |
19 | g.35033654C>G | CA203839 | SCN1B | c.363C>G (p.Cys121Trp) c.264C>G (p.Cys88Trp) c.208-58C>G (n.208-58C>G) n.372C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35033654C>T | CA307703655 | SCN1B | c.363C>T (p.Cys121=) c.264C>T (p.Cys88=) c.208-58C>T (n.208-58C>T) n.372C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.35033655C>A | CA405328873 | SCN1B | c.364C>A (p.His122Asn) c.265C>A (p.His89Asn) c.208-57C>A (n.208-57C>A) n.373C>A | |
19 | g.35033655C>G | CA405328874 | SCN1B | c.364C>G (p.His122Asp) c.265C>G (p.His89Asp) c.208-57C>G (n.208-57C>G) n.373C>G | |
19 | g.35033655C>T | CA405328875 | SCN1B | c.364C>T (p.His122Tyr) c.265C>T (p.His89Tyr) c.208-57C>T (n.208-57C>T) n.373C>T | |
19 | g.35033656A>C | CA405328878 | SCN1B | c.365A>C (p.His122Pro) c.266A>C (p.His89Pro) c.208-56A>C (n.208-56A>C) n.374A>C | |
19 | g.35033656A>G | CA405328876 | SCN1B | c.365A>G (p.His122Arg) c.266A>G (p.His89Arg) c.208-56A>G (n.208-56A>G) n.374A>G | |
19 | g.35033656A>T | CA405328877 | SCN1B | c.365A>T (p.His122Leu) c.266A>T (p.His89Leu) c.208-56A>T (n.208-56A>T) n.374A>T | |
19 | g.35033657C>A | CA9372008 | SCN1B | c.366C>A (p.His122Gln) c.267C>A (p.His89Gln) c.208-55C>A (n.208-55C>A) n.375C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35033657C= | CA2333467035 | SCN1B | c.366C= (p.His122=) c.267C= (p.His89=) c.208-55C= (n.208-55C=) n.375C= | |
19 | g.35033657C>G | CA405328879 | SCN1B | c.366C>G (p.His122Gln) c.267C>G (p.His89Gln) c.208-55C>G (n.208-55C>G) n.375C>G | |
19 | g.35033657C>T | CA9372007 | SCN1B | c.366C>T (p.His122=) c.267C>T (p.His89=) c.208-55C>T (n.208-55C>T) n.375C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35033658G>A | CA302159 | SCN1B | c.367G>A (p.Val123Ile) c.268G>A (p.Val90Ile) c.208-54G>A (n.208-54G>A) n.376G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.35033658G>C | CA405328880 | SCN1B | c.367G>C (p.Val123Leu) c.268G>C (p.Val90Leu) c.208-54G>C (n.208-54G>C) n.376G>C | |
19 | g.35033658G= | CA2333467036 | SCN1B | c.367G= (p.Val123=) c.268G= (p.Val90=) c.208-54G= (n.208-54G=) n.376G= | |
19 | g.35033658G>T | CA405328881 | SCN1B | c.367G>T (p.Val123Phe) c.268G>T (p.Val90Phe) c.208-54G>T (n.208-54G>T) n.376G>T | ClinVar dbSNP |
19 | g.35033659T>A | CA405328882 | SCN1B | c.368T>A (p.Val123Asp) c.269T>A (p.Val90Asp) c.208-53T>A (n.208-53T>A) n.377T>A | |
19 | g.35033659T>C | CA405328883 | SCN1B | c.368T>C (p.Val123Ala) c.269T>C (p.Val90Ala) c.208-53T>C (n.208-53T>C) n.377T>C | COSMIC COSMIC |
19 | g.35033659T>G | CA405328884 | SCN1B | c.368T>G (p.Val123Gly) c.269T>G (p.Val90Gly) c.208-53T>G (n.208-53T>G) n.377T>G | |
19 | g.35033660C>A | CA507298128 | SCN1B | c.369C>A (p.Val123=) c.270C>A (p.Val90=) c.208-52C>A (n.208-52C>A) n.378C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35033660C= | CA2333467037 | SCN1B | c.369C= (p.Val123=) c.270C= (p.Val90=) c.208-52C= (n.208-52C=) n.378C= | |
19 | g.35033660C>G | CA507298129 | SCN1B | c.369C>G (p.Val123=) c.270C>G (p.Val90=) c.208-52C>G (n.208-52C>G) n.378C>G | |
19 | g.35033660C>T | CA507298130 | SCN1B | c.369C>T (p.Val123=) c.270C>T (p.Val90=) c.208-52C>T (n.208-52C>T) n.378C>T | gnomAD v4 |
19 | g.35033661T>A | CA405328885 | SCN1B | c.370T>A (p.Tyr124Asn) c.271T>A (p.Tyr91Asn) c.208-51T>A (n.208-51T>A) n.379T>A | |
19 | g.35033661T>C | CA405328886 | SCN1B | c.370T>C (p.Tyr124His) c.271T>C (p.Tyr91His) c.208-51T>C (n.208-51T>C) n.379T>C | |
19 | g.35033661T>G | CA405328887 | SCN1B | c.370T>G (p.Tyr124Asp) c.271T>G (p.Tyr91Asp) c.208-51T>G (n.208-51T>G) n.379T>G | |
19 | g.35033662A>C | CA405328889 | SCN1B | c.371A>C (p.Tyr124Ser) c.272A>C (p.Tyr91Ser) c.208-50A>C (n.208-50A>C) n.380A>C | |
19 | g.35033662A>G | CA405328890 | SCN1B | c.371A>G (p.Tyr124Cys) c.272A>G (p.Tyr91Cys) c.208-50A>G (n.208-50A>G) n.380A>G | |
19 | g.35033662A>T | CA405328888 | SCN1B | c.371A>T (p.Tyr124Phe) c.272A>T (p.Tyr91Phe) c.208-50A>T (n.208-50A>T) n.380A>T | |
19 | g.35033663C>A | CA405328892 | SCN1B | c.372C>A (p.Tyr124Ter) c.273C>A (p.Tyr91Ter) c.208-49C>A (n.208-49C>A) n.381C>A | |
19 | g.35033663C>G | CA405328891 | SCN1B | c.372C>G (p.Tyr124Ter) c.273C>G (p.Tyr91Ter) c.208-49C>G (n.208-49C>G) n.381C>G | |
19 | g.35033663C>T | CA507298134 | SCN1B | c.372C>T (p.Tyr124=) c.273C>T (p.Tyr91=) c.208-49C>T (n.208-49C>T) n.381C>T | gnomAD v4 |
19 | g.35033664C>A | CA405328893 | SCN1B | c.373C>A (p.Arg125Ser) c.274C>A (p.Arg92Ser) c.208-48C>A (n.208-48C>A) n.382C>A | |
19 | g.35033664C= | CA2333467038 | SCN1B | c.373C= (p.Arg125=) c.274C= (p.Arg92=) c.208-48C= (n.208-48C=) n.382C= | |
19 | g.35033664C>G | CA405328894 | SCN1B | c.373C>G (p.Arg125Gly) c.274C>G (p.Arg92Gly) c.208-48C>G (n.208-48C>G) n.382C>G | gnomAD v4 |
19 | g.35033664C>T | CA405328895 | SCN1B | c.373C>T (p.Arg125Cys) c.274C>T (p.Arg92Cys) c.208-48C>T (n.208-48C>T) n.382C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35033665G>A | CA302194 | SCN1B | c.374G>A (p.Arg125His) c.275G>A (p.Arg92His) c.208-47G>A (n.208-47G>A) n.383G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35033665G>C | CA405328896 | SCN1B | c.374G>C (p.Arg125Pro) c.275G>C (p.Arg92Pro) c.208-47G>C (n.208-47G>C) n.383G>C | |
19 | g.35033665G= | CA2333467039 | SCN1B | c.374G= (p.Arg125=) c.275G= (p.Arg92=) c.208-47G= (n.208-47G=) n.383G= | |
19 | g.35033665G>T | CA405328897 | SCN1B | c.374G>T (p.Arg125Leu) c.275G>T (p.Arg92Leu) c.208-47G>T (n.208-47G>T) n.383G>T | ClinVar dbSNP |
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 |