| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165367331C>A | CA349026273 | SCN2A | c.3635C>A (p.Thr1212Asn) c.*1954C>A (n.*1954C>A) c.*1622C>A (n.*1622C>A) c.*4158C>A (n.*4158C>A) c.*1577C>A (n.*1577C>A) c.3239C>A (p.Thr1080Asn) n.3778C>A c.3605C>A (p.Thr1202Asn) c.2882C>A (p.Thr961Asn) c.1433C>A (p.Thr478Asn) | |
| 2 | g.165367331C>G | CA349026282 | SCN2A | c.3635C>G (p.Thr1212Ser) c.*1954C>G (n.*1954C>G) c.*1622C>G (n.*1622C>G) c.*4158C>G (n.*4158C>G) c.*1577C>G (n.*1577C>G) c.3239C>G (p.Thr1080Ser) n.3778C>G c.3605C>G (p.Thr1202Ser) c.2882C>G (p.Thr961Ser) c.1433C>G (p.Thr478Ser) | |
| 2 | g.165367331C>T | CA349026284 | SCN2A | c.3635C>T (p.Thr1212Ile) c.*1954C>T (n.*1954C>T) c.*1622C>T (n.*1622C>T) c.*4158C>T (n.*4158C>T) c.*1577C>T (n.*1577C>T) c.3239C>T (p.Thr1080Ile) n.3778C>T c.3605C>T (p.Thr1202Ile) c.2882C>T (p.Thr961Ile) c.1433C>T (p.Thr478Ile) | |
| 2 | g.165367332C>A | CA429886089 | SCN2A | c.3636C>A (p.Thr1212=) c.*1955C>A (n.*1955C>A) c.*1623C>A (n.*1623C>A) c.*4159C>A (n.*4159C>A) c.*1578C>A (n.*1578C>A) c.3240C>A (p.Thr1080=) n.3779C>A c.3606C>A (p.Thr1202=) c.2883C>A (p.Thr961=) c.1434C>A (p.Thr478=) | ClinVar dbSNP |
| 2 | g.165367332C= | CA1304555344 | SCN2A | c.3636C= (p.Thr1212=) c.*1955C= (n.*1955C=) c.*1623C= (n.*1623C=) c.*4159C= (n.*4159C=) c.*1578C= (n.*1578C=) c.3240C= (p.Thr1080=) n.3779C= c.3606C= (p.Thr1202=) c.2883C= (p.Thr961=) c.1434C= (p.Thr478=) | dbSNP |
| 2 | g.165367332C>G | CA429886090 | SCN2A | c.3636C>G (p.Thr1212=) c.*1955C>G (n.*1955C>G) c.*1623C>G (n.*1623C>G) c.*4159C>G (n.*4159C>G) c.*1578C>G (n.*1578C>G) c.3240C>G (p.Thr1080=) n.3779C>G c.3606C>G (p.Thr1202=) c.2883C>G (p.Thr961=) c.1434C>G (p.Thr478=) | dbSNP gnomAD v2 |
| 2 | g.165367332C>T | CA429886091 | SCN2A | c.3636C>T (p.Thr1212=) c.*1955C>T (n.*1955C>T) c.*1623C>T (n.*1623C>T) c.*4159C>T (n.*4159C>T) c.*1578C>T (n.*1578C>T) c.3240C>T (p.Thr1080=) n.3779C>T c.3606C>T (p.Thr1202=) c.2883C>T (p.Thr961=) c.1434C>T (p.Thr478=) | |
| 2 | g.165367333T>A | CA349026286 | SCN2A | c.3637T>A (p.Phe1213Ile) c.*1956T>A (n.*1956T>A) c.*1624T>A (n.*1624T>A) c.*4160T>A (n.*4160T>A) c.*1579T>A (n.*1579T>A) c.3241T>A (p.Phe1081Ile) n.3780T>A c.3607T>A (p.Phe1203Ile) c.2884T>A (p.Phe962Ile) c.1435T>A (p.Phe479Ile) | |
| 2 | g.165367333T>C | CA349026288 | SCN2A | c.3637T>C (p.Phe1213Leu) c.*1956T>C (n.*1956T>C) c.*1624T>C (n.*1624T>C) c.*4160T>C (n.*4160T>C) c.*1579T>C (n.*1579T>C) c.3241T>C (p.Phe1081Leu) n.3780T>C c.3607T>C (p.Phe1203Leu) c.2884T>C (p.Phe962Leu) c.1435T>C (p.Phe479Leu) | |
| 2 | g.165367333T>G | CA204867 | SCN2A | c.3637T>G (p.Phe1213Val) c.*1956T>G (n.*1956T>G) c.*1624T>G (n.*1624T>G) c.*4160T>G (n.*4160T>G) c.*1579T>G (n.*1579T>G) c.3241T>G (p.Phe1081Val) n.3780T>G c.3607T>G (p.Phe1203Val) c.2884T>G (p.Phe962Val) c.1435T>G (p.Phe479Val) | ClinVar dbSNP gnomAD v4 |
| 2 | g.165367333T= | CA1304555345 | SCN2A | c.3637T= (p.Phe1213=) c.*1956T= (n.*1956T=) c.*1624T= (n.*1624T=) c.*4160T= (n.*4160T=) c.*1579T= (n.*1579T=) c.3241T= (p.Phe1081=) n.3780T= c.3607T= (p.Phe1203=) c.2884T= (p.Phe962=) c.1435T= (p.Phe479=) | dbSNP |
| 2 | g.165367334T>A | CA349026296 | SCN2A | c.3638T>A (p.Phe1213Tyr) c.*1957T>A (n.*1957T>A) c.*1625T>A (n.*1625T>A) c.*4161T>A (n.*4161T>A) c.*1580T>A (n.*1580T>A) c.3242T>A (p.Phe1081Tyr) n.3781T>A c.3608T>A (p.Phe1203Tyr) c.2885T>A (p.Phe962Tyr) c.1436T>A (p.Phe479Tyr) | |
| 2 | g.165367334T>C | CA349026298 | SCN2A | c.3638T>C (p.Phe1213Ser) c.*1957T>C (n.*1957T>C) c.*1625T>C (n.*1625T>C) c.*4161T>C (n.*4161T>C) c.*1580T>C (n.*1580T>C) c.3242T>C (p.Phe1081Ser) n.3781T>C c.3608T>C (p.Phe1203Ser) c.2885T>C (p.Phe962Ser) c.1436T>C (p.Phe479Ser) | |
| 2 | g.165367334T>G | CA349026299 | SCN2A | c.3638T>G (p.Phe1213Cys) c.*1957T>G (n.*1957T>G) c.*1625T>G (n.*1625T>G) c.*4161T>G (n.*4161T>G) c.*1580T>G (n.*1580T>G) c.3242T>G (p.Phe1081Cys) n.3781T>G c.3608T>G (p.Phe1203Cys) c.2885T>G (p.Phe962Cys) c.1436T>G (p.Phe479Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.165367334T= | CA1304555346 | SCN2A | c.3638T= (p.Phe1213=) c.*1957T= (n.*1957T=) c.*1625T= (n.*1625T=) c.*4161T= (n.*4161T=) c.*1580T= (n.*1580T=) c.3242T= (p.Phe1081=) n.3781T= c.3608T= (p.Phe1203=) c.2885T= (p.Phe962=) c.1436T= (p.Phe479=) | dbSNP |
| 2 | g.165367335C>A | CA349026300 | SCN2A | c.3639C>A (p.Phe1213Leu) c.*1958C>A (n.*1958C>A) c.*1626C>A (n.*1626C>A) c.*4162C>A (n.*4162C>A) c.*1581C>A (n.*1581C>A) c.3243C>A (p.Phe1081Leu) n.3782C>A c.3609C>A (p.Phe1203Leu) c.2886C>A (p.Phe962Leu) c.1437C>A (p.Phe479Leu) | dbSNP gnomAD v4 |
| 2 | g.165367335C= | CA3094596722 | SCN2A | c.3639C= (p.Phe1213=) c.*1958C= (n.*1958C=) c.*1626C= (n.*1626C=) c.*4162C= (n.*4162C=) c.*1581C= (n.*1581C=) c.3243C= (p.Phe1081=) n.3782C= c.3609C= (p.Phe1203=) c.2886C= (p.Phe962=) c.1437C= (p.Phe479=) | dbSNP |
| 2 | g.165367335C>G | CA349026301 | SCN2A | c.3639C>G (p.Phe1213Leu) c.*1958C>G (n.*1958C>G) c.*1626C>G (n.*1626C>G) c.*4162C>G (n.*4162C>G) c.*1581C>G (n.*1581C>G) c.3243C>G (p.Phe1081Leu) n.3782C>G c.3609C>G (p.Phe1203Leu) c.2886C>G (p.Phe962Leu) c.1437C>G (p.Phe479Leu) | |
| 2 | g.165367335C>T | CA429886093 | SCN2A | c.3639C>T (p.Phe1213=) c.*1958C>T (n.*1958C>T) c.*1626C>T (n.*1626C>T) c.*4162C>T (n.*4162C>T) c.*1581C>T (n.*1581C>T) c.3243C>T (p.Phe1081=) n.3782C>T c.3609C>T (p.Phe1203=) c.2886C>T (p.Phe962=) c.1437C>T (p.Phe479=) | COSMIC COSMIC |
| 2 | g.165367336A= | CA1304555347 | SCN2A | c.3640A= (p.Ile1214=) c.*1959A= (n.*1959A=) c.*1627A= (n.*1627A=) c.*4163A= (n.*4163A=) c.*1582A= (n.*1582A=) c.3244A= (p.Ile1082=) n.3783A= c.3610A= (p.Ile1204=) c.2887A= (p.Ile963=) c.1438A= (p.Ile480=) | dbSNP |
| 2 | g.165367336A>C | CA349026309 | SCN2A | c.3640A>C (p.Ile1214Leu) c.*1959A>C (n.*1959A>C) c.*1627A>C (n.*1627A>C) c.*4163A>C (n.*4163A>C) c.*1582A>C (n.*1582A>C) c.3244A>C (p.Ile1082Leu) n.3783A>C c.3610A>C (p.Ile1204Leu) c.2887A>C (p.Ile963Leu) c.1438A>C (p.Ile480Leu) | |
| 2 | g.165367336A>G | CA1940147 | SCN2A | c.3640A>G (p.Ile1214Val) c.*1959A>G (n.*1959A>G) c.*1627A>G (n.*1627A>G) c.*4163A>G (n.*4163A>G) c.*1582A>G (n.*1582A>G) c.3244A>G (p.Ile1082Val) n.3783A>G c.3610A>G (p.Ile1204Val) c.2887A>G (p.Ile963Val) c.1438A>G (p.Ile480Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.165367336A>T | CA349026303 | SCN2A | c.3640A>T (p.Ile1214Phe) c.*1959A>T (n.*1959A>T) c.*1627A>T (n.*1627A>T) c.*4163A>T (n.*4163A>T) c.*1582A>T (n.*1582A>T) c.3244A>T (p.Ile1082Phe) n.3783A>T c.3610A>T (p.Ile1204Phe) c.2887A>T (p.Ile963Phe) c.1438A>T (p.Ile480Phe) | |
| 2 | g.165367337T>A | CA349026310 | SCN2A | c.3641T>A (p.Ile1214Asn) c.*1960T>A (n.*1960T>A) c.*1628T>A (n.*1628T>A) c.*4164T>A (n.*4164T>A) c.*1583T>A (n.*1583T>A) c.3245T>A (p.Ile1082Asn) n.3784T>A c.3611T>A (p.Ile1204Asn) c.2888T>A (p.Ile963Asn) c.1439T>A (p.Ile480Asn) | |
| 2 | g.165367337T>C | CA349026313 | SCN2A | c.3641T>C (p.Ile1214Thr) c.*1960T>C (n.*1960T>C) c.*1628T>C (n.*1628T>C) c.*4164T>C (n.*4164T>C) c.*1583T>C (n.*1583T>C) c.3245T>C (p.Ile1082Thr) n.3784T>C c.3611T>C (p.Ile1204Thr) c.2888T>C (p.Ile963Thr) c.1439T>C (p.Ile480Thr) | |
| 2 | g.165367337T>G | CA349026316 | SCN2A | c.3641T>G (p.Ile1214Ser) c.*1960T>G (n.*1960T>G) c.*1628T>G (n.*1628T>G) c.*4164T>G (n.*4164T>G) c.*1583T>G (n.*1583T>G) c.3245T>G (p.Ile1082Ser) n.3784T>G c.3611T>G (p.Ile1204Ser) c.2888T>G (p.Ile963Ser) c.1439T>G (p.Ile480Ser) | |
| 2 | g.165367338T>A | CA429886096 | SCN2A | c.3642T>A (p.Ile1214=) c.*1961T>A (n.*1961T>A) c.*1629T>A (n.*1629T>A) c.*4165T>A (n.*4165T>A) c.*1584T>A (n.*1584T>A) c.3246T>A (p.Ile1082=) n.3785T>A c.3612T>A (p.Ile1204=) c.2889T>A (p.Ile963=) c.1440T>A (p.Ile480=) | |
| 2 | g.165367338T>C | CA429886097 | SCN2A | c.3642T>C (p.Ile1214=) c.*1961T>C (n.*1961T>C) c.*1629T>C (n.*1629T>C) c.*4165T>C (n.*4165T>C) c.*1584T>C (n.*1584T>C) c.3246T>C (p.Ile1082=) n.3785T>C c.3612T>C (p.Ile1204=) c.2889T>C (p.Ile963=) c.1440T>C (p.Ile480=) | |
| 2 | g.165367338T>G | CA349026318 | SCN2A | c.3642T>G (p.Ile1214Met) c.*1961T>G (n.*1961T>G) c.*1629T>G (n.*1629T>G) c.*4165T>G (n.*4165T>G) c.*1584T>G (n.*1584T>G) c.3246T>G (p.Ile1082Met) n.3785T>G c.3612T>G (p.Ile1204Met) c.2889T>G (p.Ile963Met) c.1440T>G (p.Ile480Met) | |
| 2 | g.165367339G>A | CA349026323 | SCN2A | c.3643G>A (p.Val1215Ile) c.*1962G>A (n.*1962G>A) c.*1630G>A (n.*1630G>A) c.*4166G>A (n.*4166G>A) c.*1585G>A (n.*1585G>A) c.3247G>A (p.Val1083Ile) n.3786G>A c.3613G>A (p.Val1205Ile) c.2890G>A (p.Val964Ile) c.1441G>A (p.Val481Ile) | |
| 2 | g.165367339G>C | CA349026331 | SCN2A | c.3643G>C (p.Val1215Leu) c.*1962G>C (n.*1962G>C) c.*1630G>C (n.*1630G>C) c.*4166G>C (n.*4166G>C) c.*1585G>C (n.*1585G>C) c.3247G>C (p.Val1083Leu) n.3786G>C c.3613G>C (p.Val1205Leu) c.2890G>C (p.Val964Leu) c.1441G>C (p.Val481Leu) | |
| 2 | g.165367339G= | CA1304555348 | SCN2A | c.3643G= (p.Val1215=) c.*1962G= (n.*1962G=) c.*1630G= (n.*1630G=) c.*4166G= (n.*4166G=) c.*1585G= (n.*1585G=) c.3247G= (p.Val1083=) n.3786G= c.3613G= (p.Val1205=) c.2890G= (p.Val964=) c.1441G= (p.Val481=) | dbSNP |
| 2 | g.165367339G>T | CA16617268 | SCN2A | c.3643G>T (p.Val1215Phe) c.*1962G>T (n.*1962G>T) c.*1630G>T (n.*1630G>T) c.*4166G>T (n.*4166G>T) c.*1585G>T (n.*1585G>T) c.3247G>T (p.Val1083Phe) n.3786G>T c.3613G>T (p.Val1205Phe) c.2890G>T (p.Val964Phe) c.1441G>T (p.Val481Phe) | ClinVar dbSNP |
| 2 | g.165367340T>A | CA349026336 | SCN2A | c.3644T>A (p.Val1215Asp) c.*1963T>A (n.*1963T>A) c.*1631T>A (n.*1631T>A) c.*4167T>A (n.*4167T>A) c.*1586T>A (n.*1586T>A) c.3248T>A (p.Val1083Asp) n.3787T>A c.3614T>A (p.Val1205Asp) c.2891T>A (p.Val964Asp) c.1442T>A (p.Val481Asp) | |
| 2 | g.165367340T>C | CA349026339 | SCN2A | c.3644T>C (p.Val1215Ala) c.*1963T>C (n.*1963T>C) c.*1631T>C (n.*1631T>C) c.*4167T>C (n.*4167T>C) c.*1586T>C (n.*1586T>C) c.3248T>C (p.Val1083Ala) n.3787T>C c.3614T>C (p.Val1205Ala) c.2891T>C (p.Val964Ala) c.1442T>C (p.Val481Ala) | |
| 2 | g.165367340T>G | CA59732098 | SCN2A | c.3644T>G (p.Val1215Gly) c.*1963T>G (n.*1963T>G) c.*1631T>G (n.*1631T>G) c.*4167T>G (n.*4167T>G) c.*1586T>G (n.*1586T>G) c.3248T>G (p.Val1083Gly) n.3787T>G c.3614T>G (p.Val1205Gly) c.2891T>G (p.Val964Gly) c.1442T>G (p.Val481Gly) | dbSNP |
| 2 | g.165367340T= | CA1304555349 | SCN2A | c.3644T= (p.Val1215=) c.*1963T= (n.*1963T=) c.*1631T= (n.*1631T=) c.*4167T= (n.*4167T=) c.*1586T= (n.*1586T=) c.3248T= (p.Val1083=) n.3787T= c.3614T= (p.Val1205=) c.2891T= (p.Val964=) c.1442T= (p.Val481=) | dbSNP |
| 2 | g.165367341C>A | CA429886101 | SCN2A | c.3645C>A (p.Val1215=) c.*1964C>A (n.*1964C>A) c.*1632C>A (n.*1632C>A) c.*4168C>A (n.*4168C>A) c.*1587C>A (n.*1587C>A) c.3249C>A (p.Val1083=) n.3788C>A c.3615C>A (p.Val1205=) c.2892C>A (p.Val964=) c.1443C>A (p.Val481=) | |
| 2 | g.165367341C>G | CA429886102 | SCN2A | c.3645C>G (p.Val1215=) c.*1964C>G (n.*1964C>G) c.*1632C>G (n.*1632C>G) c.*4168C>G (n.*4168C>G) c.*1587C>G (n.*1587C>G) c.3249C>G (p.Val1083=) n.3788C>G c.3615C>G (p.Val1205=) c.2892C>G (p.Val964=) c.1443C>G (p.Val481=) | |
| 2 | g.165367341C>T | CA429886103 | SCN2A | c.3645C>T (p.Val1215=) c.*1964C>T (n.*1964C>T) c.*1632C>T (n.*1632C>T) c.*4168C>T (n.*4168C>T) c.*1587C>T (n.*1587C>T) c.3249C>T (p.Val1083=) n.3788C>T c.3615C>T (p.Val1205=) c.2892C>T (p.Val964=) c.1443C>T (p.Val481=) | |
| 2 | g.165367342T>A | CA349026344 | SCN2A | c.3646T>A (p.Phe1216Ile) c.*1965T>A (n.*1965T>A) c.*1633T>A (n.*1633T>A) c.*4169T>A (n.*4169T>A) c.*1588T>A (n.*1588T>A) c.3250T>A (p.Phe1084Ile) n.3789T>A c.3616T>A (p.Phe1206Ile) c.2893T>A (p.Phe965Ile) c.1444T>A (p.Phe482Ile) | |
| 2 | g.165367342T>C | CA349026347 | SCN2A | c.3646T>C (p.Phe1216Leu) c.*1965T>C (n.*1965T>C) c.*1633T>C (n.*1633T>C) c.*4169T>C (n.*4169T>C) c.*1588T>C (n.*1588T>C) c.3250T>C (p.Phe1084Leu) n.3789T>C c.3616T>C (p.Phe1206Leu) c.2893T>C (p.Phe965Leu) c.1444T>C (p.Phe482Leu) | |
| 2 | g.165367342T>G | CA349026342 | SCN2A | c.3646T>G (p.Phe1216Val) c.*1965T>G (n.*1965T>G) c.*1633T>G (n.*1633T>G) c.*4169T>G (n.*4169T>G) c.*1588T>G (n.*1588T>G) c.3250T>G (p.Phe1084Val) n.3789T>G c.3616T>G (p.Phe1206Val) c.2893T>G (p.Phe965Val) c.1444T>G (p.Phe482Val) | |
| 2 | g.165367343T>A | CA349026350 | SCN2A | c.3647T>A (p.Phe1216Tyr) c.*1966T>A (n.*1966T>A) c.*1634T>A (n.*1634T>A) c.*4170T>A (n.*4170T>A) c.*1589T>A (n.*1589T>A) c.3251T>A (p.Phe1084Tyr) n.3790T>A c.3617T>A (p.Phe1206Tyr) c.2894T>A (p.Phe965Tyr) c.1445T>A (p.Phe482Tyr) | |
| 2 | g.165367343T>C | CA349026353 | SCN2A | c.3647T>C (p.Phe1216Ser) c.*1966T>C (n.*1966T>C) c.*1634T>C (n.*1634T>C) c.*4170T>C (n.*4170T>C) c.*1589T>C (n.*1589T>C) c.3251T>C (p.Phe1084Ser) n.3790T>C c.3617T>C (p.Phe1206Ser) c.2894T>C (p.Phe965Ser) c.1445T>C (p.Phe482Ser) | |
| 2 | g.165367343T>G | CA349026355 | SCN2A | c.3647T>G (p.Phe1216Cys) c.*1966T>G (n.*1966T>G) c.*1634T>G (n.*1634T>G) c.*4170T>G (n.*4170T>G) c.*1589T>G (n.*1589T>G) c.3251T>G (p.Phe1084Cys) n.3790T>G c.3617T>G (p.Phe1206Cys) c.2894T>G (p.Phe965Cys) c.1445T>G (p.Phe482Cys) | |
| 2 | g.165367344C>A | CA349026356 | SCN2A | c.3648C>A (p.Phe1216Leu) c.*1967C>A (n.*1967C>A) c.*1635C>A (n.*1635C>A) c.*4171C>A (n.*4171C>A) c.*1590C>A (n.*1590C>A) c.3252C>A (p.Phe1084Leu) n.3791C>A c.3618C>A (p.Phe1206Leu) c.2895C>A (p.Phe965Leu) c.1446C>A (p.Phe482Leu) | |
| 2 | g.165367344C>G | CA349026358 | SCN2A | c.3648C>G (p.Phe1216Leu) c.*1967C>G (n.*1967C>G) c.*1635C>G (n.*1635C>G) c.*4171C>G (n.*4171C>G) c.*1590C>G (n.*1590C>G) c.3252C>G (p.Phe1084Leu) n.3791C>G c.3618C>G (p.Phe1206Leu) c.2895C>G (p.Phe965Leu) c.1446C>G (p.Phe482Leu) | |
| 2 | g.165367344C>T | CA429886104 | SCN2A | c.3648C>T (p.Phe1216=) c.*1967C>T (n.*1967C>T) c.*1635C>T (n.*1635C>T) c.*4171C>T (n.*4171C>T) c.*1590C>T (n.*1590C>T) c.3252C>T (p.Phe1084=) n.3791C>T c.3618C>T (p.Phe1206=) c.2895C>T (p.Phe965=) c.1446C>T (p.Phe482=) | |
| 2 | g.165367345A>C | CA349026361 | SCN2A | c.3649A>C (p.Met1217Leu) c.*1968A>C (n.*1968A>C) c.*1636A>C (n.*1636A>C) c.*4172A>C (n.*4172A>C) c.*1591A>C (n.*1591A>C) c.3253A>C (p.Met1085Leu) n.3792A>C c.3619A>C (p.Met1207Leu) c.2896A>C (p.Met966Leu) c.1447A>C (p.Met483Leu) | ClinVar |