| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165367327G>A | CA128708 | SCN2A | c.3631G>A (p.Glu1211Lys) c.*1950G>A (n.*1950G>A) c.*1618G>A (n.*1618G>A) c.*4154G>A (n.*4154G>A) c.*1573G>A (n.*1573G>A) c.3235G>A (p.Glu1079Lys) n.3774G>A c.3601G>A (p.Glu1201Lys) c.2878G>A (p.Glu960Lys) c.1429G>A (p.Glu477Lys) | ClinVar dbSNP |
| 2 | g.165367327G>C | CA349026253 | SCN2A | c.3631G>C (p.Glu1211Gln) c.*1950G>C (n.*1950G>C) c.*1618G>C (n.*1618G>C) c.*4154G>C (n.*4154G>C) c.*1573G>C (n.*1573G>C) c.3235G>C (p.Glu1079Gln) n.3774G>C c.3601G>C (p.Glu1201Gln) c.2878G>C (p.Glu960Gln) c.1429G>C (p.Glu477Gln) | |
| 2 | g.165367327G= | CA1304555342 | SCN2A | c.3631G= (p.Glu1211=) c.*1950G= (n.*1950G=) c.*1618G= (n.*1618G=) c.*4154G= (n.*4154G=) c.*1573G= (n.*1573G=) c.3235G= (p.Glu1079=) n.3774G= c.3601G= (p.Glu1201=) c.2878G= (p.Glu960=) c.1429G= (p.Glu477=) | |
| 2 | g.165367327G>T | CA349026256 | SCN2A | c.3631G>T (p.Glu1211Ter) c.*1950G>T (n.*1950G>T) c.*1618G>T (n.*1618G>T) c.*4154G>T (n.*4154G>T) c.*1573G>T (n.*1573G>T) c.3235G>T (p.Glu1079Ter) n.3774G>T c.3601G>T (p.Glu1201Ter) c.2878G>T (p.Glu960Ter) c.1429G>T (p.Glu477Ter) | dbSNP |
| 2 | g.165367328A>C | CA349026263 | SCN2A | c.3632A>C (p.Glu1211Ala) c.*1951A>C (n.*1951A>C) c.*1619A>C (n.*1619A>C) c.*4155A>C (n.*4155A>C) c.*1574A>C (n.*1574A>C) c.3236A>C (p.Glu1079Ala) n.3775A>C c.3602A>C (p.Glu1201Ala) c.2879A>C (p.Glu960Ala) c.1430A>C (p.Glu477Ala) | |
| 2 | g.165367328A>G | CA349026262 | SCN2A | c.3632A>G (p.Glu1211Gly) c.*1951A>G (n.*1951A>G) c.*1619A>G (n.*1619A>G) c.*4155A>G (n.*4155A>G) c.*1574A>G (n.*1574A>G) c.3236A>G (p.Glu1079Gly) n.3775A>G c.3602A>G (p.Glu1201Gly) c.2879A>G (p.Glu960Gly) c.1430A>G (p.Glu477Gly) | |
| 2 | g.165367328A>T | CA349026260 | SCN2A | c.3632A>T (p.Glu1211Val) c.*1951A>T (n.*1951A>T) c.*1619A>T (n.*1619A>T) c.*4155A>T (n.*4155A>T) c.*1574A>T (n.*1574A>T) c.3236A>T (p.Glu1079Val) n.3775A>T c.3602A>T (p.Glu1201Val) c.2879A>T (p.Glu960Val) c.1430A>T (p.Glu477Val) | |
| 2 | g.165367329A>C | CA349026264 | SCN2A | c.3633A>C (p.Glu1211Asp) c.*1952A>C (n.*1952A>C) c.*1620A>C (n.*1620A>C) c.*4156A>C (n.*4156A>C) c.*1575A>C (n.*1575A>C) c.3237A>C (p.Glu1079Asp) n.3776A>C c.3603A>C (p.Glu1201Asp) c.2880A>C (p.Glu960Asp) c.1431A>C (p.Glu477Asp) | |
| 2 | g.165367329A>G | CA429886088 | SCN2A | c.3633A>G (p.Glu1211=) c.*1952A>G (n.*1952A>G) c.*1620A>G (n.*1620A>G) c.*4156A>G (n.*4156A>G) c.*1575A>G (n.*1575A>G) c.3237A>G (p.Glu1079=) n.3776A>G c.3603A>G (p.Glu1201=) c.2880A>G (p.Glu960=) c.1431A>G (p.Glu477=) | |
| 2 | g.165367329A>T | CA349026265 | SCN2A | c.3633A>T (p.Glu1211Asp) c.*1952A>T (n.*1952A>T) c.*1620A>T (n.*1620A>T) c.*4156A>T (n.*4156A>T) c.*1575A>T (n.*1575A>T) c.3237A>T (p.Glu1079Asp) n.3776A>T c.3603A>T (p.Glu1201Asp) c.2880A>T (p.Glu960Asp) c.1431A>T (p.Glu477Asp) | |
| 2 | g.165367330A= | CA1304555343 | SCN2A | c.3634A= (p.Thr1212=) c.*1953A= (n.*1953A=) c.*1621A= (n.*1621A=) c.*4157A= (n.*4157A=) c.*1576A= (n.*1576A=) c.3238A= (p.Thr1080=) n.3777A= c.3604A= (p.Thr1202=) c.2881A= (p.Thr961=) c.1432A= (p.Thr478=) | |
| 2 | g.165367330A>C | CA349026266 | SCN2A | c.3634A>C (p.Thr1212Pro) c.*1953A>C (n.*1953A>C) c.*1621A>C (n.*1621A>C) c.*4157A>C (n.*4157A>C) c.*1576A>C (n.*1576A>C) c.3238A>C (p.Thr1080Pro) n.3777A>C c.3604A>C (p.Thr1202Pro) c.2881A>C (p.Thr961Pro) c.1432A>C (p.Thr478Pro) | ClinVar dbSNP |
| 2 | g.165367330A>G | CA349026270 | SCN2A | c.3634A>G (p.Thr1212Ala) c.*1953A>G (n.*1953A>G) c.*1621A>G (n.*1621A>G) c.*4157A>G (n.*4157A>G) c.*1576A>G (n.*1576A>G) c.3238A>G (p.Thr1080Ala) n.3777A>G c.3604A>G (p.Thr1202Ala) c.2881A>G (p.Thr961Ala) c.1432A>G (p.Thr478Ala) | |
| 2 | g.165367330A>T | CA349026268 | SCN2A | c.3634A>T (p.Thr1212Ser) c.*1953A>T (n.*1953A>T) c.*1621A>T (n.*1621A>T) c.*4157A>T (n.*4157A>T) c.*1576A>T (n.*1576A>T) c.3238A>T (p.Thr1080Ser) n.3777A>T c.3604A>T (p.Thr1202Ser) c.2881A>T (p.Thr961Ser) c.1432A>T (p.Thr478Ser) | |
| 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 |
| 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=) | |
| 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=) | |
| 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=) | |
| 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) | gnomAD v4 |
| 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=) | |
| 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=) | |
| 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=) |