| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165344566C>A | CA349013120 | SCN2A | c.2574C>A (p.Phe858Leu) c.*893C>A (n.*893C>A) c.*561C>A (n.*561C>A) c.*3097C>A (n.*3097C>A) c.*516C>A (n.*516C>A) c.2178C>A (p.Phe726Leu) c.12C>A (p.Phe4Leu) c.425C>A n.2717C>A c.2544C>A (p.Phe848Leu) c.1821C>A (p.Phe607Leu) c.372C>A (p.Phe124Leu) | |
| 2 | g.165344566C= | CA1304545443 | SCN2A | c.2574C= (p.Phe858=) c.*893C= (n.*893C=) c.*561C= (n.*561C=) c.*3097C= (n.*3097C=) c.*516C= (n.*516C=) c.2178C= (p.Phe726=) c.12C= (p.Phe4=) c.425C= n.2717C= c.2544C= (p.Phe848=) c.1821C= (p.Phe607=) c.372C= (p.Phe124=) | |
| 2 | g.165344566C>G | CA349013122 | SCN2A | c.2574C>G (p.Phe858Leu) c.*893C>G (n.*893C>G) c.*561C>G (n.*561C>G) c.*3097C>G (n.*3097C>G) c.*516C>G (n.*516C>G) c.2178C>G (p.Phe726Leu) c.12C>G (p.Phe4Leu) c.425C>G n.2717C>G c.2544C>G (p.Phe848Leu) c.1821C>G (p.Phe607Leu) c.372C>G (p.Phe124Leu) | |
| 2 | g.165344566C>T | CA1940009 | SCN2A | c.2574C>T (p.Phe858=) c.*893C>T (n.*893C>T) c.*561C>T (n.*561C>T) c.*3097C>T (n.*3097C>T) c.*516C>T (n.*516C>T) c.2178C>T (p.Phe726=) c.12C>T (p.Phe4=) c.425C>T n.2717C>T c.2544C>T (p.Phe848=) c.1821C>T (p.Phe607=) c.372C>T (p.Phe124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.165344567A= | CA1304545444 | SCN2A | c.2575A= (p.Lys859=) c.*894A= (n.*894A=) c.*562A= (n.*562A=) c.*3098A= (n.*3098A=) c.*517A= (n.*517A=) c.2179A= (p.Lys727=) c.13A= (p.Lys5=) c.426A= n.2718A= c.2545A= (p.Lys849=) c.1822A= (p.Lys608=) c.373A= (p.Lys125=) | |
| 2 | g.165344567A>C | CA349013124 | SCN2A | c.2575A>C (p.Lys859Gln) c.*894A>C (n.*894A>C) c.*562A>C (n.*562A>C) c.*3098A>C (n.*3098A>C) c.*517A>C (n.*517A>C) c.2179A>C (p.Lys727Gln) c.13A>C (p.Lys5Gln) c.426A>C n.2718A>C c.2545A>C (p.Lys849Gln) c.1822A>C (p.Lys608Gln) c.373A>C (p.Lys125Gln) | dbSNP |
| 2 | g.165344567A>G | CA349013126 | SCN2A | c.2575A>G (p.Lys859Glu) c.*894A>G (n.*894A>G) c.*562A>G (n.*562A>G) c.*3098A>G (n.*3098A>G) c.*517A>G (n.*517A>G) c.2179A>G (p.Lys727Glu) c.13A>G (p.Lys5Glu) c.426A>G n.2718A>G c.2545A>G (p.Lys849Glu) c.1822A>G (p.Lys608Glu) c.373A>G (p.Lys125Glu) | |
| 2 | g.165344567A>T | CA349013128 | SCN2A | c.2575A>T (p.Lys859Ter) c.*894A>T (n.*894A>T) c.*562A>T (n.*562A>T) c.*3098A>T (n.*3098A>T) c.*517A>T (n.*517A>T) c.2179A>T (p.Lys727Ter) c.13A>T (p.Lys5Ter) c.426A>T n.2718A>T c.2545A>T (p.Lys849Ter) c.1822A>T (p.Lys608Ter) c.373A>T (p.Lys125Ter) | dbSNP |
| 2 | g.165344568A>C | CA349013130 | SCN2A | c.2576A>C (p.Lys859Thr) c.*895A>C (n.*895A>C) c.*563A>C (n.*563A>C) c.*3099A>C (n.*3099A>C) c.*518A>C (n.*518A>C) c.2180A>C (p.Lys727Thr) c.14A>C (p.Lys5Thr) c.427A>C n.2719A>C c.2546A>C (p.Lys849Thr) c.1823A>C (p.Lys608Thr) c.374A>C (p.Lys125Thr) | |
| 2 | g.165344568A>G | CA349013134 | SCN2A | c.2576A>G (p.Lys859Arg) c.*895A>G (n.*895A>G) c.*563A>G (n.*563A>G) c.*3099A>G (n.*3099A>G) c.*518A>G (n.*518A>G) c.2180A>G (p.Lys727Arg) c.14A>G (p.Lys5Arg) c.427A>G n.2719A>G c.2546A>G (p.Lys849Arg) c.1823A>G (p.Lys608Arg) c.374A>G (p.Lys125Arg) | |
| 2 | g.165344568A>T | CA349013132 | SCN2A | c.2576A>T (p.Lys859Met) c.*895A>T (n.*895A>T) c.*563A>T (n.*563A>T) c.*3099A>T (n.*3099A>T) c.*518A>T (n.*518A>T) c.2180A>T (p.Lys727Met) c.14A>T (p.Lys5Met) c.427A>T n.2719A>T c.2546A>T (p.Lys849Met) c.1823A>T (p.Lys608Met) c.374A>T (p.Lys125Met) | |
| 2 | g.165344569G>A | CA429885328 | SCN2A | c.2577G>A (p.Lys859=) c.*896G>A (n.*896G>A) c.*564G>A (n.*564G>A) c.*3100G>A (n.*3100G>A) c.*519G>A (n.*519G>A) c.2181G>A (p.Lys727=) c.15G>A (p.Lys5=) c.428G>A n.2720G>A c.2547G>A (p.Lys849=) c.1824G>A (p.Lys608=) c.375G>A (p.Lys125=) | COSMIC COSMIC |
| 2 | g.165344569G>C | CA349013136 | SCN2A | c.2577G>C (p.Lys859Asn) c.*896G>C (n.*896G>C) c.*564G>C (n.*564G>C) c.*3100G>C (n.*3100G>C) c.*519G>C (n.*519G>C) c.2181G>C (p.Lys727Asn) c.15G>C (p.Lys5Asn) c.428G>C n.2720G>C c.2547G>C (p.Lys849Asn) c.1824G>C (p.Lys608Asn) c.375G>C (p.Lys125Asn) | |
| 2 | g.165344569G>T | CA349013138 | SCN2A | c.2577G>T (p.Lys859Asn) c.*896G>T (n.*896G>T) c.*564G>T (n.*564G>T) c.*3100G>T (n.*3100G>T) c.*519G>T (n.*519G>T) c.2181G>T (p.Lys727Asn) c.15G>T (p.Lys5Asn) c.428G>T n.2720G>T c.2547G>T (p.Lys849Asn) c.1824G>T (p.Lys608Asn) c.375G>T (p.Lys125Asn) | |
| 2 | g.165344570T>A | CA349013140 | SCN2A | c.2578T>A (p.Leu860Met) c.*897T>A (n.*897T>A) c.*565T>A (n.*565T>A) c.*3101T>A (n.*3101T>A) c.*520T>A (n.*520T>A) c.2182T>A (p.Leu728Met) c.16T>A (p.Leu6Met) c.429T>A n.2721T>A c.2548T>A (p.Leu850Met) c.1825T>A (p.Leu609Met) c.376T>A (p.Leu126Met) | |
| 2 | g.165344570T>C | CA429885331 | SCN2A | c.2578T>C (p.Leu860=) c.*897T>C (n.*897T>C) c.*565T>C (n.*565T>C) c.*3101T>C (n.*3101T>C) c.*520T>C (n.*520T>C) c.2182T>C (p.Leu728=) c.16T>C (p.Leu6=) c.429T>C n.2721T>C c.2548T>C (p.Leu850=) c.1825T>C (p.Leu609=) c.376T>C (p.Leu126=) | |
| 2 | g.165344570T>G | CA349013142 | SCN2A | c.2578T>G (p.Leu860Val) c.*897T>G (n.*897T>G) c.*565T>G (n.*565T>G) c.*3101T>G (n.*3101T>G) c.*520T>G (n.*520T>G) c.2182T>G (p.Leu728Val) c.16T>G (p.Leu6Val) c.429T>G n.2721T>G c.2548T>G (p.Leu850Val) c.1825T>G (p.Leu609Val) c.376T>G (p.Leu126Val) | |
| 2 | g.165344571T>A | CA349013144 | SCN2A | c.2579T>A (p.Leu860Ter) c.*898T>A (n.*898T>A) c.*566T>A (n.*566T>A) c.*3102T>A (n.*3102T>A) c.*521T>A (n.*521T>A) c.2183T>A (p.Leu728Ter) c.17T>A (p.Leu6Ter) c.430T>A n.2722T>A c.2549T>A (p.Leu850Ter) c.1826T>A (p.Leu609Ter) c.377T>A (p.Leu126Ter) | dbSNP |
| 2 | g.165344571T>C | CA349013145 | SCN2A | c.2579T>C (p.Leu860Ser) c.*898T>C (n.*898T>C) c.*566T>C (n.*566T>C) c.*3102T>C (n.*3102T>C) c.*521T>C (n.*521T>C) c.2183T>C (p.Leu728Ser) c.17T>C (p.Leu6Ser) c.430T>C n.2722T>C c.2549T>C (p.Leu850Ser) c.1826T>C (p.Leu609Ser) c.377T>C (p.Leu126Ser) | |
| 2 | g.165344571T>G | CA349013147 | SCN2A | c.2579T>G (p.Leu860Trp) c.*898T>G (n.*898T>G) c.*566T>G (n.*566T>G) c.*3102T>G (n.*3102T>G) c.*521T>G (n.*521T>G) c.2183T>G (p.Leu728Trp) c.17T>G (p.Leu6Trp) c.430T>G n.2722T>G c.2549T>G (p.Leu850Trp) c.1826T>G (p.Leu609Trp) c.377T>G (p.Leu126Trp) | |
| 2 | g.165344571T= | CA1304545446 | SCN2A | c.2579T= (p.Leu860=) c.*898T= (n.*898T=) c.*566T= (n.*566T=) c.*3102T= (n.*3102T=) c.*521T= (n.*521T=) c.2183T= (p.Leu728=) c.17T= (p.Leu6=) c.430T= n.2722T= c.2549T= (p.Leu850=) c.1826T= (p.Leu609=) c.377T= (p.Leu126=) | |
| 2 | g.165344571_165344572delinsTG | CA1304545445 | SCN2A | c.2579_2580delinsTG (p.Leu860=) c.*898_*899delinsTG (n.*898_*899delinsTG) c.*566_*567delinsTG (n.*566_*567delinsTG) c.*3102_*3103delinsTG (n.*3102_*3103delinsTG) c.*521_*522delinsTG (n.*521_*522delinsTG) c.2183_2184delinsTG (p.Leu728=) c.17_18delinsTG (p.Leu6=) c.430_431delinsTG n.2722_2723delinsTG c.2549_2550delinsTG (p.Leu850=) c.1826_1827delinsTG (p.Leu609=) c.377_378delinsTG (p.Leu126=) | |
| 2 | g.165344572G>A | CA429885334 | SCN2A | c.2580G>A (p.Leu860=) c.*899G>A (n.*899G>A) c.*567G>A (n.*567G>A) c.*3103G>A (n.*3103G>A) c.*522G>A (n.*522G>A) c.2184G>A (p.Leu728=) c.18G>A (p.Leu6=) c.431G>A n.2723G>A c.2550G>A (p.Leu850=) c.1827G>A (p.Leu609=) c.378G>A (p.Leu126=) | |
| 2 | g.165344572G>C | CA349013149 | SCN2A | c.2580G>C (p.Leu860Phe) c.*899G>C (n.*899G>C) c.*567G>C (n.*567G>C) c.*3103G>C (n.*3103G>C) c.*522G>C (n.*522G>C) c.2184G>C (p.Leu728Phe) c.18G>C (p.Leu6Phe) c.431G>C n.2723G>C c.2550G>C (p.Leu850Phe) c.1827G>C (p.Leu609Phe) c.378G>C (p.Leu126Phe) | |
| 2 | g.165344572G>T | CA349013151 | SCN2A | c.2580G>T (p.Leu860Phe) c.*899G>T (n.*899G>T) c.*567G>T (n.*567G>T) c.*3103G>T (n.*3103G>T) c.*522G>T (n.*522G>T) c.2184G>T (p.Leu728Phe) c.18G>T (p.Leu6Phe) c.431G>T n.2723G>T c.2550G>T (p.Leu850Phe) c.1827G>T (p.Leu609Phe) c.378G>T (p.Leu126Phe) | |
| 2 | g.165344573del | CA915942906 | SCN2A | c.2581del (p.Ala861GlnfsTer7) c.*900del (n.*900del) c.*568del (n.*568del) c.*3104del (n.*3104del) c.*523del (n.*523del) c.2185del (p.Ala729GlnfsTer7) c.19del (p.Ala7GlnfsTer7) c.432del n.2724del c.2551del (p.Ala851GlnfsTer7) c.1828del (p.Ala610GlnfsTer7) c.379del (p.Ala127GlnfsTer7) | ClinVar dbSNP |
| 2 | g.165344573G>A | CA349013153 | SCN2A | c.2581G>A (p.Ala861Thr) c.*900G>A (n.*900G>A) c.*568G>A (n.*568G>A) c.*3104G>A (n.*3104G>A) c.*523G>A (n.*523G>A) c.2185G>A (p.Ala729Thr) c.19G>A (p.Ala7Thr) c.432G>A n.2724G>A c.2551G>A (p.Ala851Thr) c.1828G>A (p.Ala610Thr) c.379G>A (p.Ala127Thr) | |
| 2 | g.165344573G>C | CA349013155 | SCN2A | c.2581G>C (p.Ala861Pro) c.*900G>C (n.*900G>C) c.*568G>C (n.*568G>C) c.*3104G>C (n.*3104G>C) c.*523G>C (n.*523G>C) c.2185G>C (p.Ala729Pro) c.19G>C (p.Ala7Pro) c.432G>C n.2724G>C c.2551G>C (p.Ala851Pro) c.1828G>C (p.Ala610Pro) c.379G>C (p.Ala127Pro) | |
| 2 | g.165344573G>T | CA349013157 | SCN2A | c.2581G>T (p.Ala861Ser) c.*900G>T (n.*900G>T) c.*568G>T (n.*568G>T) c.*3104G>T (n.*3104G>T) c.*523G>T (n.*523G>T) c.2185G>T (p.Ala729Ser) c.19G>T (p.Ala7Ser) c.432G>T n.2724G>T c.2551G>T (p.Ala851Ser) c.1828G>T (p.Ala610Ser) c.379G>T (p.Ala127Ser) | |
| 2 | g.165344574C>A | CA349013163 | SCN2A | c.2582C>A (p.Ala861Glu) c.*901C>A (n.*901C>A) c.*569C>A (n.*569C>A) c.*3105C>A (n.*3105C>A) c.*524C>A (n.*524C>A) c.2186C>A (p.Ala729Glu) c.20C>A (p.Ala7Glu) c.433C>A n.2725C>A c.2552C>A (p.Ala851Glu) c.1829C>A (p.Ala610Glu) c.380C>A (p.Ala127Glu) | |
| 2 | g.165344574C>G | CA349013160 | SCN2A | c.2582C>G (p.Ala861Gly) c.*901C>G (n.*901C>G) c.*569C>G (n.*569C>G) c.*3105C>G (n.*3105C>G) c.*524C>G (n.*524C>G) c.2186C>G (p.Ala729Gly) c.20C>G (p.Ala7Gly) c.433C>G n.2725C>G c.2552C>G (p.Ala851Gly) c.1829C>G (p.Ala610Gly) c.380C>G (p.Ala127Gly) | |
| 2 | g.165344574C>T | CA349013161 | SCN2A | c.2582C>T (p.Ala861Val) c.*901C>T (n.*901C>T) c.*569C>T (n.*569C>T) c.*3105C>T (n.*3105C>T) c.*524C>T (n.*524C>T) c.2186C>T (p.Ala729Val) c.20C>T (p.Ala7Val) c.433C>T n.2725C>T c.2552C>T (p.Ala851Val) c.1829C>T (p.Ala610Val) c.380C>T (p.Ala127Val) | |
| 2 | g.165344575A>C | CA429885340 | SCN2A | c.2583A>C (p.Ala861=) c.*902A>C (n.*902A>C) c.*570A>C (n.*570A>C) c.*3106A>C (n.*3106A>C) c.*525A>C (n.*525A>C) c.2187A>C (p.Ala729=) c.21A>C (p.Ala7=) c.434A>C n.2726A>C c.2553A>C (p.Ala851=) c.1830A>C (p.Ala610=) c.381A>C (p.Ala127=) | |
| 2 | g.165344575A>G | CA429885338 | SCN2A | c.2583A>G (p.Ala861=) c.*902A>G (n.*902A>G) c.*570A>G (n.*570A>G) c.*3106A>G (n.*3106A>G) c.*525A>G (n.*525A>G) c.2187A>G (p.Ala729=) c.21A>G (p.Ala7=) c.434A>G n.2726A>G c.2553A>G (p.Ala851=) c.1830A>G (p.Ala610=) c.381A>G (p.Ala127=) | |
| 2 | g.165344575A>T | CA429885339 | SCN2A | c.2583A>T (p.Ala861=) c.*902A>T (n.*902A>T) c.*570A>T (n.*570A>T) c.*3106A>T (n.*3106A>T) c.*525A>T (n.*525A>T) c.2187A>T (p.Ala729=) c.21A>T (p.Ala7=) c.434A>T n.2726A>T c.2553A>T (p.Ala851=) c.1830A>T (p.Ala610=) c.381A>T (p.Ala127=) | |
| 2 | g.165344576A= | CA1304545447 | SCN2A | c.2584A= (p.Lys862=) c.*903A= (n.*903A=) c.*571A= (n.*571A=) c.*3107A= (n.*3107A=) c.*526A= (n.*526A=) c.2188A= (p.Lys730=) c.22A= (p.Lys8=) c.435A= n.2727A= c.2554A= (p.Lys852=) c.1831A= (p.Lys611=) c.382A= (p.Lys128=) | |
| 2 | g.165344576A>C | CA349013166 | SCN2A | c.2584A>C (p.Lys862Gln) c.*903A>C (n.*903A>C) c.*571A>C (n.*571A>C) c.*3107A>C (n.*3107A>C) c.*526A>C (n.*526A>C) c.2188A>C (p.Lys730Gln) c.22A>C (p.Lys8Gln) c.435A>C n.2727A>C c.2554A>C (p.Lys852Gln) c.1831A>C (p.Lys611Gln) c.382A>C (p.Lys128Gln) | |
| 2 | g.165344576A>G | CA349013167 | SCN2A | c.2584A>G (p.Lys862Glu) c.*903A>G (n.*903A>G) c.*571A>G (n.*571A>G) c.*3107A>G (n.*3107A>G) c.*526A>G (n.*526A>G) c.2188A>G (p.Lys730Glu) c.22A>G (p.Lys8Glu) c.435A>G n.2727A>G c.2554A>G (p.Lys852Glu) c.1831A>G (p.Lys611Glu) c.382A>G (p.Lys128Glu) | |
| 2 | g.165344576A>T | CA349013169 | SCN2A | c.2584A>T (p.Lys862Ter) c.*903A>T (n.*903A>T) c.*571A>T (n.*571A>T) c.*3107A>T (n.*3107A>T) c.*526A>T (n.*526A>T) c.2188A>T (p.Lys730Ter) c.22A>T (p.Lys8Ter) c.435A>T n.2727A>T c.2554A>T (p.Lys852Ter) c.1831A>T (p.Lys611Ter) c.382A>T (p.Lys128Ter) | dbSNP |
| 2 | g.165344577A>C | CA349013172 | SCN2A | c.2585A>C (p.Lys862Thr) c.*904A>C (n.*904A>C) c.*572A>C (n.*572A>C) c.*3108A>C (n.*3108A>C) c.*527A>C (n.*527A>C) c.2189A>C (p.Lys730Thr) c.23A>C (p.Lys8Thr) c.436A>C n.2728A>C c.2555A>C (p.Lys852Thr) c.1832A>C (p.Lys611Thr) c.383A>C (p.Lys128Thr) | |
| 2 | g.165344577A>G | CA349013174 | SCN2A | c.2585A>G (p.Lys862Arg) c.*904A>G (n.*904A>G) c.*572A>G (n.*572A>G) c.*3108A>G (n.*3108A>G) c.*527A>G (n.*527A>G) c.2189A>G (p.Lys730Arg) c.23A>G (p.Lys8Arg) c.436A>G n.2728A>G c.2555A>G (p.Lys852Arg) c.1832A>G (p.Lys611Arg) c.383A>G (p.Lys128Arg) | |
| 2 | g.165344577A>T | CA349013176 | SCN2A | c.2585A>T (p.Lys862Ile) c.*904A>T (n.*904A>T) c.*572A>T (n.*572A>T) c.*3108A>T (n.*3108A>T) c.*527A>T (n.*527A>T) c.2189A>T (p.Lys730Ile) c.23A>T (p.Lys8Ile) c.436A>T n.2728A>T c.2555A>T (p.Lys852Ile) c.1832A>T (p.Lys611Ile) c.383A>T (p.Lys128Ile) | |
| 2 | g.165344578A>C | CA349013178 | SCN2A | c.2586A>C (p.Lys862Asn) c.*905A>C (n.*905A>C) c.*573A>C (n.*573A>C) c.*3109A>C (n.*3109A>C) c.*528A>C (n.*528A>C) c.2190A>C (p.Lys730Asn) c.24A>C (p.Lys8Asn) c.437A>C n.2729A>C c.2556A>C (p.Lys852Asn) c.1833A>C (p.Lys611Asn) c.384A>C (p.Lys128Asn) | |
| 2 | g.165344578A>G | CA429885345 | SCN2A | c.2586A>G (p.Lys862=) c.*905A>G (n.*905A>G) c.*573A>G (n.*573A>G) c.*3109A>G (n.*3109A>G) c.*528A>G (n.*528A>G) c.2190A>G (p.Lys730=) c.24A>G (p.Lys8=) c.437A>G n.2729A>G c.2556A>G (p.Lys852=) c.1833A>G (p.Lys611=) c.384A>G (p.Lys128=) | |
| 2 | g.165344578A>T | CA349013180 | SCN2A | c.2586A>T (p.Lys862Asn) c.*905A>T (n.*905A>T) c.*573A>T (n.*573A>T) c.*3109A>T (n.*3109A>T) c.*528A>T (n.*528A>T) c.2190A>T (p.Lys730Asn) c.24A>T (p.Lys8Asn) c.437A>T n.2729A>T c.2556A>T (p.Lys852Asn) c.1833A>T (p.Lys611Asn) c.384A>T (p.Lys128Asn) | |
| 2 | g.165344579T>A | CA349013182 | SCN2A | c.2587T>A (p.Ser863Thr) c.*906T>A (n.*906T>A) c.*574T>A (n.*574T>A) c.*3110T>A (n.*3110T>A) c.*529T>A (n.*529T>A) c.2191T>A (p.Ser731Thr) c.25T>A (p.Ser9Thr) c.438T>A n.2730T>A c.2557T>A (p.Ser853Thr) c.1834T>A (p.Ser612Thr) c.385T>A (p.Ser129Thr) | |
| 2 | g.165344579T>C | CA349013184 | SCN2A | c.2587T>C (p.Ser863Pro) c.*906T>C (n.*906T>C) c.*574T>C (n.*574T>C) c.*3110T>C (n.*3110T>C) c.*529T>C (n.*529T>C) c.2191T>C (p.Ser731Pro) c.25T>C (p.Ser9Pro) c.438T>C n.2730T>C c.2557T>C (p.Ser853Pro) c.1834T>C (p.Ser612Pro) c.385T>C (p.Ser129Pro) | |
| 2 | g.165344579T>G | CA349013187 | SCN2A | c.2587T>G (p.Ser863Ala) c.*906T>G (n.*906T>G) c.*574T>G (n.*574T>G) c.*3110T>G (n.*3110T>G) c.*529T>G (n.*529T>G) c.2191T>G (p.Ser731Ala) c.25T>G (p.Ser9Ala) c.438T>G n.2730T>G c.2557T>G (p.Ser853Ala) c.1834T>G (p.Ser612Ala) c.385T>G (p.Ser129Ala) | |
| 2 | g.165344580C>A | CA349013193 | SCN2A | c.2588C>A (p.Ser863Tyr) c.*907C>A (n.*907C>A) c.*575C>A (n.*575C>A) c.*3111C>A (n.*3111C>A) c.*530C>A (n.*530C>A) c.2192C>A (p.Ser731Tyr) c.26C>A (p.Ser9Tyr) c.439C>A n.2731C>A c.2558C>A (p.Ser853Tyr) c.1835C>A (p.Ser612Tyr) c.386C>A (p.Ser129Tyr) | ClinVar dbSNP |
| 2 | g.165344580C= | CA1304545448 | SCN2A | c.2588C= (p.Ser863=) c.*907C= (n.*907C=) c.*575C= (n.*575C=) c.*3111C= (n.*3111C=) c.*530C= (n.*530C=) c.2192C= (p.Ser731=) c.26C= (p.Ser9=) c.439C= n.2731C= c.2558C= (p.Ser853=) c.1835C= (p.Ser612=) c.386C= (p.Ser129=) |