| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166277134C>A | CA349077716 | SCN1A-AS1,SCN9A | c.2723G>T (p.Trp908Leu) c.2690G>T (p.Trp897Leu) c.380G>T (p.Trp127Leu) c.1725G>T n.916C>A c.2336G>T (p.Trp779Leu) c.1979G>T (p.Trp660Leu) n.3037G>T | |
| 2 | g.166277134C= | CA1304964952 | SCN1A-AS1,SCN9A | c.2723G= (p.Trp908=) c.2690G= (p.Trp897=) c.380G= (p.Trp127=) c.1725G= n.916C= c.2336G= (p.Trp779=) c.1979G= (p.Trp660=) n.3037G= | |
| 2 | g.166277134C>G | CA349077717 | SCN1A-AS1,SCN9A | c.2723G>C (p.Trp908Ser) c.2690G>C (p.Trp897Ser) c.380G>C (p.Trp127Ser) c.1725G>C n.916C>G c.2336G>C (p.Trp779Ser) c.1979G>C (p.Trp660Ser) n.3037G>C | |
| 2 | g.166277134C>T | CA203854 | SCN1A-AS1,SCN9A | c.2723G>A (p.Trp908Ter) c.2690G>A (p.Trp897Ter) c.380G>A (p.Trp127Ter) c.1725G>A n.916C>T c.2336G>A (p.Trp779Ter) c.1979G>A (p.Trp660Ter) n.3037G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.166277135A>C | CA349077718 | SCN1A-AS1,SCN9A | c.2722T>G (p.Trp908Gly) c.2689T>G (p.Trp897Gly) c.379T>G (p.Trp127Gly) c.1724T>G n.917A>C c.2335T>G (p.Trp779Gly) c.1978T>G (p.Trp660Gly) n.3036T>G | |
| 2 | g.166277135A>G | CA349077719 | SCN1A-AS1,SCN9A | c.2722T>C (p.Trp908Arg) c.2689T>C (p.Trp897Arg) c.379T>C (p.Trp127Arg) c.1724T>C n.917A>G c.2335T>C (p.Trp779Arg) c.1978T>C (p.Trp660Arg) n.3036T>C | gnomAD v4 |
| 2 | g.166277135A>T | CA349077720 | SCN1A-AS1,SCN9A | c.2722T>A (p.Trp908Arg) c.2689T>A (p.Trp897Arg) c.379T>A (p.Trp127Arg) c.1724T>A n.917A>T c.2335T>A (p.Trp779Arg) c.1978T>A (p.Trp660Arg) n.3036T>A | |
| 2 | g.166277136C>A | CA429978261 | SCN1A-AS1,SCN9A | c.2721G>T (p.Arg907=) c.2688G>T (p.Arg896=) c.378G>T (p.Arg126=) c.1723G>T n.918C>A c.2334G>T (p.Arg778=) c.1977G>T (p.Arg659=) n.3035G>T | dbSNP |
| 2 | g.166277136C= | CA1304964958 | SCN1A-AS1,SCN9A | c.2721G= (p.Arg907=) c.2688G= (p.Arg896=) c.378G= (p.Arg126=) c.1723G= n.918C= c.2334G= (p.Arg778=) c.1977G= (p.Arg659=) n.3035G= | |
| 2 | g.166277136C>G | CA429978262 | SCN1A-AS1,SCN9A | c.2721G>C (p.Arg907=) c.2688G>C (p.Arg896=) c.378G>C (p.Arg126=) c.1723G>C n.918C>G c.2334G>C (p.Arg778=) c.1977G>C (p.Arg659=) n.3035G>C | |
| 2 | g.166277136C>T | CA429978263 | SCN1A-AS1,SCN9A | c.2721G>A (p.Arg907=) c.2688G>A (p.Arg896=) c.378G>A (p.Arg126=) c.1723G>A n.918C>T c.2334G>A (p.Arg778=) c.1977G>A (p.Arg659=) n.3035G>A | |
| 2 | g.166277137C>A | CA349077722 | SCN1A-AS1,SCN9A | c.2720G>T (p.Arg907Leu) c.2687G>T (p.Arg896Leu) c.377G>T (p.Arg126Leu) c.1722G>T n.919C>A c.2333G>T (p.Arg778Leu) c.1976G>T (p.Arg659Leu) n.3034G>T | |
| 2 | g.166277137C= | CA1304964965 | SCN1A-AS1,SCN9A | c.2720G= (p.Arg907=) c.2687G= (p.Arg896=) c.377G= (p.Arg126=) c.1722G= n.919C= c.2333G= (p.Arg778=) c.1976G= (p.Arg659=) n.3034G= | |
| 2 | g.166277137C>G | CA349077721 | SCN1A-AS1,SCN9A | c.2720G>C (p.Arg907Pro) c.2687G>C (p.Arg896Pro) c.377G>C (p.Arg126Pro) c.1722G>C n.919C>G c.2333G>C (p.Arg778Pro) c.1976G>C (p.Arg659Pro) n.3034G>C | |
| 2 | g.166277137C>T | CA59794605 | SCN1A-AS1,SCN9A | c.2720G>A (p.Arg907Gln) c.2687G>A (p.Arg896Gln) c.377G>A (p.Arg126Gln) c.1722G>A n.919C>T c.2333G>A (p.Arg778Gln) c.1976G>A (p.Arg659Gln) n.3034G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166277138G>A | CA1944214 | SCN1A-AS1,SCN9A | c.2719C>T (p.Arg907Trp) c.2686C>T (p.Arg896Trp) c.376C>T (p.Arg126Trp) c.1721C>T n.920G>A c.2332C>T (p.Arg778Trp) c.1975C>T (p.Arg659Trp) n.3033C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166277138G>C | CA349077723 | SCN1A-AS1,SCN9A | c.2719C>G (p.Arg907Gly) c.2686C>G (p.Arg896Gly) c.376C>G (p.Arg126Gly) c.1721C>G n.920G>C c.2332C>G (p.Arg778Gly) c.1975C>G (p.Arg659Gly) n.3033C>G | |
| 2 | g.166277138G= | CA1304964971 | SCN1A-AS1,SCN9A | c.2719C= (p.Arg907=) c.2686C= (p.Arg896=) c.376C= (p.Arg126=) c.1721C= n.920G= c.2332C= (p.Arg778=) c.1975C= (p.Arg659=) n.3033C= | |
| 2 | g.166277138G>T | CA429978270 | SCN1A-AS1,SCN9A | c.2719C>A (p.Arg907=) c.2686C>A (p.Arg896=) c.376C>A (p.Arg126=) c.1721C>A n.920G>T c.2332C>A (p.Arg778=) c.1975C>A (p.Arg659=) n.3033C>A | |
| 2 | g.166277139T>A | CA429978272 | SCN1A-AS1,SCN9A | c.2718A>T (p.Pro906=) c.2685A>T (p.Pro895=) c.375A>T (p.Pro125=) c.1720A>T n.921T>A c.2331A>T (p.Pro777=) c.1974A>T (p.Pro658=) n.3032A>T | |
| 2 | g.166277139T>C | CA429978274 | SCN1A-AS1,SCN9A | c.2718A>G (p.Pro906=) c.2685A>G (p.Pro895=) c.375A>G (p.Pro125=) c.1720A>G n.921T>C c.2331A>G (p.Pro777=) c.1974A>G (p.Pro658=) n.3032A>G | ClinVar dbSNP |
| 2 | g.166277139T>G | CA429978275 | SCN1A-AS1,SCN9A | c.2718A>C (p.Pro906=) c.2685A>C (p.Pro895=) c.375A>C (p.Pro125=) c.1720A>C n.921T>G c.2331A>C (p.Pro777=) c.1974A>C (p.Pro658=) n.3032A>C | |
| 2 | g.166277140G>A | CA349077724 | SCN1A-AS1,SCN9A | c.2717C>T (p.Pro906Leu) c.2684C>T (p.Pro895Leu) c.374C>T (p.Pro125Leu) c.1719C>T n.922G>A c.2330C>T (p.Pro777Leu) c.1973C>T (p.Pro658Leu) n.3031C>T | |
| 2 | g.166277140G>C | CA349077725 | SCN1A-AS1,SCN9A | c.2717C>G (p.Pro906Arg) c.2684C>G (p.Pro895Arg) c.374C>G (p.Pro125Arg) c.1719C>G n.922G>C c.2330C>G (p.Pro777Arg) c.1973C>G (p.Pro658Arg) n.3031C>G | |
| 2 | g.166277140G>T | CA349077726 | SCN1A-AS1,SCN9A | c.2717C>A (p.Pro906Gln) c.2684C>A (p.Pro895Gln) c.374C>A (p.Pro125Gln) c.1719C>A n.922G>T c.2330C>A (p.Pro777Gln) c.1973C>A (p.Pro658Gln) n.3031C>A | |
| 2 | g.166277141G>A | CA349077727 | SCN1A-AS1,SCN9A | c.2716C>T (p.Pro906Ser) c.2683C>T (p.Pro895Ser) c.373C>T (p.Pro125Ser) c.1718C>T n.923G>A c.2329C>T (p.Pro777Ser) c.1972C>T (p.Pro658Ser) n.3030C>T | dbSNP |
| 2 | g.166277141G>C | CA349077728 | SCN1A-AS1,SCN9A | c.2716C>G (p.Pro906Ala) c.2683C>G (p.Pro895Ala) c.373C>G (p.Pro125Ala) c.1718C>G n.923G>C c.2329C>G (p.Pro777Ala) c.1972C>G (p.Pro658Ala) n.3030C>G | |
| 2 | g.166277141G= | CA1304964979 | SCN1A-AS1,SCN9A | c.2716C= (p.Pro906=) c.2683C= (p.Pro895=) c.373C= (p.Pro125=) c.1718C= n.923G= c.2329C= (p.Pro777=) c.1972C= (p.Pro658=) n.3030C= | |
| 2 | g.166277141G>T | CA349077729 | SCN1A-AS1,SCN9A | c.2716C>A (p.Pro906Thr) c.2683C>A (p.Pro895Thr) c.373C>A (p.Pro125Thr) c.1718C>A n.923G>T c.2329C>A (p.Pro777Thr) c.1972C>A (p.Pro658Thr) n.3030C>A | |
| 2 | g.166277142G>A | CA429978276 | SCN1A-AS1,SCN9A | c.2715C>T (p.Leu905=) c.2682C>T (p.Leu894=) c.372C>T (p.Leu124=) c.1717C>T n.924G>A c.2328C>T (p.Leu776=) c.1971C>T (p.Leu657=) n.3029C>T | |
| 2 | g.166277142G>C | CA429978279 | SCN1A-AS1,SCN9A | c.2715C>G (p.Leu905=) c.2682C>G (p.Leu894=) c.372C>G (p.Leu124=) c.1717C>G n.924G>C c.2328C>G (p.Leu776=) c.1971C>G (p.Leu657=) n.3029C>G | |
| 2 | g.166277142G>T | CA429978278 | SCN1A-AS1,SCN9A | c.2715C>A (p.Leu905=) c.2682C>A (p.Leu894=) c.372C>A (p.Leu124=) c.1717C>A n.924G>T c.2328C>A (p.Leu776=) c.1971C>A (p.Leu657=) n.3029C>A | |
| 2 | g.166277143A= | CA1304964982 | SCN1A-AS1,SCN9A | c.2714T= (p.Leu905=) c.2681T= (p.Leu894=) c.371T= (p.Leu124=) c.1716T= n.925A= c.2327T= (p.Leu776=) c.1970T= (p.Leu657=) n.3028T= | |
| 2 | g.166277143A>C | CA349077730 | SCN1A-AS1,SCN9A | c.2714T>G (p.Leu905Arg) c.2681T>G (p.Leu894Arg) c.371T>G (p.Leu124Arg) c.1716T>G n.925A>C c.2327T>G (p.Leu776Arg) c.1970T>G (p.Leu657Arg) n.3028T>G | |
| 2 | g.166277143A>G | CA349077731 | SCN1A-AS1,SCN9A | c.2714T>C (p.Leu905Pro) c.2681T>C (p.Leu894Pro) c.371T>C (p.Leu124Pro) c.1716T>C n.925A>G c.2327T>C (p.Leu776Pro) c.1970T>C (p.Leu657Pro) n.3028T>C | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.166277143A>T | CA349077732 | SCN1A-AS1,SCN9A | c.2714T>A (p.Leu905His) c.2681T>A (p.Leu894His) c.371T>A (p.Leu124His) c.1716T>A n.925A>T c.2327T>A (p.Leu776His) c.1970T>A (p.Leu657His) n.3028T>A | |
| 2 | g.166277144G>A | CA349077735 | SCN1A-AS1,SCN9A | c.2713C>T (p.Leu905Phe) c.2680C>T (p.Leu894Phe) c.370C>T (p.Leu124Phe) c.1715C>T n.926G>A c.2326C>T (p.Leu776Phe) c.1969C>T (p.Leu657Phe) n.3027C>T | gnomAD v4 |
| 2 | g.166277144G>C | CA349077734 | SCN1A-AS1,SCN9A | c.2713C>G (p.Leu905Val) c.2680C>G (p.Leu894Val) c.370C>G (p.Leu124Val) c.1715C>G n.926G>C c.2326C>G (p.Leu776Val) c.1969C>G (p.Leu657Val) n.3027C>G | |
| 2 | g.166277144G>T | CA349077733 | SCN1A-AS1,SCN9A | c.2713C>A (p.Leu905Ile) c.2680C>A (p.Leu894Ile) c.370C>A (p.Leu124Ile) c.1715C>A n.926G>T c.2326C>A (p.Leu776Ile) c.1969C>A (p.Leu657Ile) n.3027C>A | |
| 2 | g.166277145C>A | CA429978281 | SCN1A-AS1,SCN9A | c.2712G>T (p.Thr904=) c.2679G>T (p.Thr893=) c.369G>T (p.Thr123=) c.1714G>T n.927C>A c.2325G>T (p.Thr775=) c.1968G>T (p.Thr656=) n.3026G>T | gnomAD v3 gnomAD v4 |
| 2 | g.166277145C= | CA1304964986 | SCN1A-AS1,SCN9A | c.2712G= (p.Thr904=) c.2679G= (p.Thr893=) c.369G= (p.Thr123=) c.1714G= n.927C= c.2325G= (p.Thr775=) c.1968G= (p.Thr656=) n.3026G= | |
| 2 | g.166277145C>G | CA1944216 | SCN1A-AS1,SCN9A | c.2712G>C (p.Thr904=) c.2679G>C (p.Thr893=) c.369G>C (p.Thr123=) c.1714G>C n.927C>G c.2325G>C (p.Thr775=) c.1968G>C (p.Thr656=) n.3026G>C | ClinVar dbSNP ExAC gnomAD v2 |
| 2 | g.166277145C>T | CA1944215 | SCN1A-AS1,SCN9A | c.2712G>A (p.Thr904=) c.2679G>A (p.Thr893=) c.369G>A (p.Thr123=) c.1714G>A n.927C>T c.2325G>A (p.Thr775=) c.1968G>A (p.Thr656=) n.3026G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166277146G>A | CA1944217 | SCN1A-AS1,SCN9A | c.2711C>T (p.Thr904Met) c.2678C>T (p.Thr893Met) c.368C>T (p.Thr123Met) c.1713C>T n.928G>A c.2324C>T (p.Thr775Met) c.1967C>T (p.Thr656Met) n.3025C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.166277146G>C | CA349077736 | SCN1A-AS1,SCN9A | c.2711C>G (p.Thr904Arg) c.2678C>G (p.Thr893Arg) c.368C>G (p.Thr123Arg) c.1713C>G n.928G>C c.2324C>G (p.Thr775Arg) c.1967C>G (p.Thr656Arg) n.3025C>G | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.166277146G= | CA1304964995 | SCN1A-AS1,SCN9A | c.2711C= (p.Thr904=) c.2678C= (p.Thr893=) c.368C= (p.Thr123=) c.1713C= n.928G= c.2324C= (p.Thr775=) c.1967C= (p.Thr656=) n.3025C= | |
| 2 | g.166277146G>T | CA349077737 | SCN1A-AS1,SCN9A | c.2711C>A (p.Thr904Lys) c.2678C>A (p.Thr893Lys) c.368C>A (p.Thr123Lys) c.1713C>A n.928G>T c.2324C>A (p.Thr775Lys) c.1967C>A (p.Thr656Lys) n.3025C>A | |
| 2 | g.166277147T>A | CA349077738 | SCN1A-AS1,SCN9A | c.2710A>T (p.Thr904Ser) c.2677A>T (p.Thr893Ser) c.367A>T (p.Thr123Ser) c.1712A>T n.929T>A c.2323A>T (p.Thr775Ser) c.1966A>T (p.Thr656Ser) n.3024A>T | |
| 2 | g.166277147T>C | CA349077739 | SCN1A-AS1,SCN9A | c.2710A>G (p.Thr904Ala) c.2677A>G (p.Thr893Ala) c.367A>G (p.Thr123Ala) c.1712A>G n.929T>C c.2323A>G (p.Thr775Ala) c.1966A>G (p.Thr656Ala) n.3024A>G | |
| 2 | g.166277147T>G | CA349077740 | SCN1A-AS1,SCN9A | c.2710A>C (p.Thr904Pro) c.2677A>C (p.Thr893Pro) c.367A>C (p.Thr123Pro) c.1712A>C n.929T>G c.2323A>C (p.Thr775Pro) c.1966A>C (p.Thr656Pro) n.3024A>C |