Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.165386773_165386796del | CA2573130278 | SCN2A | c.4579_4602del (p.Phe1527_Asp1534del) c.*2898_*2921del (n.*2898_*2921del) c.*2566_*2589del (n.*2566_*2589del) c.*5102_*5125del (n.*5102_*5125del) c.*2521_*2544del (n.*2521_*2544del) c.4183_4206del (p.Phe1395_Asp1402del) n.8010_8033del c.4549_4572del (p.Phe1517_Asp1524del) c.3826_3849del (p.Phe1276_Asp1283del) c.2377_2400del (p.Phe793_Asp800del) | ClinVar dbSNP |
2 | g.165386775dup | CA2586970192 | SCN2A | c.4581dup (p.Val1528CysfsTer7) c.*2900dup (n.*2900dup) c.*2568dup (n.*2568dup) c.*5104dup (n.*5104dup) c.*2523dup (n.*2523dup) c.4185dup (p.Val1396CysfsTer7) n.8012dup c.4551dup (p.Val1518CysfsTer7) c.3828dup (p.Val1277CysfsTer7) c.2379dup (p.Val794CysfsTer7) | |
2 | g.165386775del | CA2586970191 | SCN2A | c.4581del (p.Phe1527LeufsTer2) c.*2900del (n.*2900del) c.*2568del (n.*2568del) c.*5104del (n.*5104del) c.*2523del (n.*2523del) c.4185del (p.Phe1395LeufsTer2) n.8012del c.4551del (p.Phe1517LeufsTer2) c.3828del (p.Phe1276LeufsTer2) c.2379del (p.Phe793LeufsTer2) | |
2 | g.165386775T>A | CA349036212 | SCN2A | c.4581T>A (p.Phe1527Leu) c.*2900T>A (n.*2900T>A) c.*2568T>A (n.*2568T>A) c.*5104T>A (n.*5104T>A) c.*2523T>A (n.*2523T>A) c.4185T>A (p.Phe1395Leu) n.8012T>A c.4551T>A (p.Phe1517Leu) c.3828T>A (p.Phe1276Leu) c.2379T>A (p.Phe793Leu) | |
2 | g.165386775T>C | CA429972442 | SCN2A | c.4581T>C (p.Phe1527=) c.*2900T>C (n.*2900T>C) c.*2568T>C (n.*2568T>C) c.*5104T>C (n.*5104T>C) c.*2523T>C (n.*2523T>C) c.4185T>C (p.Phe1395=) n.8012T>C c.4551T>C (p.Phe1517=) c.3828T>C (p.Phe1276=) c.2379T>C (p.Phe793=) | |
2 | g.165386775T>G | CA349036213 | SCN2A | c.4581T>G (p.Phe1527Leu) c.*2900T>G (n.*2900T>G) c.*2568T>G (n.*2568T>G) c.*5104T>G (n.*5104T>G) c.*2523T>G (n.*2523T>G) c.4185T>G (p.Phe1395Leu) n.8012T>G c.4551T>G (p.Phe1517Leu) c.3828T>G (p.Phe1276Leu) c.2379T>G (p.Phe793Leu) | ClinVar |
2 | g.165386776G>A | CA349036214 | SCN2A | c.4582G>A (p.Val1528Ile) c.*2901G>A (n.*2901G>A) c.*2569G>A (n.*2569G>A) c.*5105G>A (n.*5105G>A) c.*2524G>A (n.*2524G>A) c.4186G>A (p.Val1396Ile) n.8013G>A c.4552G>A (p.Val1518Ile) c.3829G>A (p.Val1277Ile) c.2380G>A (p.Val794Ile) | |
2 | g.165386776G>C | CA349036215 | SCN2A | c.4582G>C (p.Val1528Leu) c.*2901G>C (n.*2901G>C) c.*2569G>C (n.*2569G>C) c.*5105G>C (n.*5105G>C) c.*2524G>C (n.*2524G>C) c.4186G>C (p.Val1396Leu) n.8013G>C c.4552G>C (p.Val1518Leu) c.3829G>C (p.Val1277Leu) c.2380G>C (p.Val794Leu) | |
2 | g.165386776G>T | CA349036216 | SCN2A | c.4582G>T (p.Val1528Leu) c.*2901G>T (n.*2901G>T) c.*2569G>T (n.*2569G>T) c.*5105G>T (n.*5105G>T) c.*2524G>T (n.*2524G>T) c.4186G>T (p.Val1396Leu) n.8013G>T c.4552G>T (p.Val1518Leu) c.3829G>T (p.Val1277Leu) c.2380G>T (p.Val794Leu) | |
2 | g.165386777T>A | CA349036217 | SCN2A | c.4583T>A (p.Val1528Glu) c.*2902T>A (n.*2902T>A) c.*2570T>A (n.*2570T>A) c.*5106T>A (n.*5106T>A) c.*2525T>A (n.*2525T>A) c.4187T>A (p.Val1396Glu) n.8014T>A c.4553T>A (p.Val1518Glu) c.3830T>A (p.Val1277Glu) c.2381T>A (p.Val794Glu) | |
2 | g.165386777T>C | CA349036218 | SCN2A | c.4583T>C (p.Val1528Ala) c.*2902T>C (n.*2902T>C) c.*2570T>C (n.*2570T>C) c.*5106T>C (n.*5106T>C) c.*2525T>C (n.*2525T>C) c.4187T>C (p.Val1396Ala) n.8014T>C c.4553T>C (p.Val1518Ala) c.3830T>C (p.Val1277Ala) c.2381T>C (p.Val794Ala) | |
2 | g.165386777T>G | CA349036219 | SCN2A | c.4583T>G (p.Val1528Gly) c.*2902T>G (n.*2902T>G) c.*2570T>G (n.*2570T>G) c.*5106T>G (n.*5106T>G) c.*2525T>G (n.*2525T>G) c.4187T>G (p.Val1396Gly) n.8014T>G c.4553T>G (p.Val1518Gly) c.3830T>G (p.Val1277Gly) c.2381T>G (p.Val794Gly) | |
2 | g.165386778A= | CA1304563744 | SCN2A | c.4584A= (p.Val1528=) c.*2903A= (n.*2903A=) c.*2571A= (n.*2571A=) c.*5107A= (n.*5107A=) c.*2526A= (n.*2526A=) c.4188A= (p.Val1396=) n.8015A= c.4554A= (p.Val1518=) c.3831A= (p.Val1277=) c.2382A= (p.Val794=) | |
2 | g.165386778A>C | CA429972446 | SCN2A | c.4584A>C (p.Val1528=) c.*2903A>C (n.*2903A>C) c.*2571A>C (n.*2571A>C) c.*5107A>C (n.*5107A>C) c.*2526A>C (n.*2526A>C) c.4188A>C (p.Val1396=) n.8015A>C c.4554A>C (p.Val1518=) c.3831A>C (p.Val1277=) c.2382A>C (p.Val794=) | |
2 | g.165386778A>G | CA429972447 | SCN2A | c.4584A>G (p.Val1528=) c.*2903A>G (n.*2903A>G) c.*2571A>G (n.*2571A>G) c.*5107A>G (n.*5107A>G) c.*2526A>G (n.*2526A>G) c.4188A>G (p.Val1396=) n.8015A>G c.4554A>G (p.Val1518=) c.3831A>G (p.Val1277=) c.2382A>G (p.Val794=) | |
2 | g.165386778A>T | CA59750860 | SCN2A | c.4584A>T (p.Val1528=) c.*2903A>T (n.*2903A>T) c.*2571A>T (n.*2571A>T) c.*5107A>T (n.*5107A>T) c.*2526A>T (n.*2526A>T) c.4188A>T (p.Val1396=) n.8015A>T c.4554A>T (p.Val1518=) c.3831A>T (p.Val1277=) c.2382A>T (p.Val794=) | dbSNP |
2 | g.165386779A= | CA1304563745 | SCN2A | c.4585A= (p.Thr1529=) c.*2904A= (n.*2904A=) c.*2572A= (n.*2572A=) c.*5108A= (n.*5108A=) c.*2527A= (n.*2527A=) c.4189A= (p.Thr1397=) n.8016A= c.4555A= (p.Thr1519=) c.3832A= (p.Thr1278=) c.2383A= (p.Thr795=) | |
2 | g.165386779A>C | CA349036220 | SCN2A | c.4585A>C (p.Thr1529Pro) c.*2904A>C (n.*2904A>C) c.*2572A>C (n.*2572A>C) c.*5108A>C (n.*5108A>C) c.*2527A>C (n.*2527A>C) c.4189A>C (p.Thr1397Pro) n.8016A>C c.4555A>C (p.Thr1519Pro) c.3832A>C (p.Thr1278Pro) c.2383A>C (p.Thr795Pro) | |
2 | g.165386779A>G | CA349036221 | SCN2A | c.4585A>G (p.Thr1529Ala) c.*2904A>G (n.*2904A>G) c.*2572A>G (n.*2572A>G) c.*5108A>G (n.*5108A>G) c.*2527A>G (n.*2527A>G) c.4189A>G (p.Thr1397Ala) n.8016A>G c.4555A>G (p.Thr1519Ala) c.3832A>G (p.Thr1278Ala) c.2383A>G (p.Thr795Ala) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.165386779A>T | CA349036222 | SCN2A | c.4585A>T (p.Thr1529Ser) c.*2904A>T (n.*2904A>T) c.*2572A>T (n.*2572A>T) c.*5108A>T (n.*5108A>T) c.*2527A>T (n.*2527A>T) c.4189A>T (p.Thr1397Ser) n.8016A>T c.4555A>T (p.Thr1519Ser) c.3832A>T (p.Thr1278Ser) c.2383A>T (p.Thr795Ser) | |
2 | g.165386780C>A | CA349036224 | SCN2A | c.4586C>A (p.Thr1529Asn) c.*2905C>A (n.*2905C>A) c.*2573C>A (n.*2573C>A) c.*5109C>A (n.*5109C>A) c.*2528C>A (n.*2528C>A) c.4190C>A (p.Thr1397Asn) n.8017C>A c.4556C>A (p.Thr1519Asn) c.3833C>A (p.Thr1278Asn) c.2384C>A (p.Thr795Asn) | |
2 | g.165386780C>G | CA349036225 | SCN2A | c.4586C>G (p.Thr1529Ser) c.*2905C>G (n.*2905C>G) c.*2573C>G (n.*2573C>G) c.*5109C>G (n.*5109C>G) c.*2528C>G (n.*2528C>G) c.4190C>G (p.Thr1397Ser) n.8017C>G c.4556C>G (p.Thr1519Ser) c.3833C>G (p.Thr1278Ser) c.2384C>G (p.Thr795Ser) | |
2 | g.165386780C>T | CA349036223 | SCN2A | c.4586C>T (p.Thr1529Ile) c.*2905C>T (n.*2905C>T) c.*2573C>T (n.*2573C>T) c.*5109C>T (n.*5109C>T) c.*2528C>T (n.*2528C>T) c.4190C>T (p.Thr1397Ile) n.8017C>T c.4556C>T (p.Thr1519Ile) c.3833C>T (p.Thr1278Ile) c.2384C>T (p.Thr795Ile) | COSMIC COSMIC |
2 | g.165386781C>A | CA429972451 | SCN2A | c.4587C>A (p.Thr1529=) c.*2906C>A (n.*2906C>A) c.*2574C>A (n.*2574C>A) c.*5110C>A (n.*5110C>A) c.*2529C>A (n.*2529C>A) c.4191C>A (p.Thr1397=) n.8018C>A c.4557C>A (p.Thr1519=) c.3834C>A (p.Thr1278=) c.2385C>A (p.Thr795=) | |
2 | g.165386781C>G | CA429972452 | SCN2A | c.4587C>G (p.Thr1529=) c.*2906C>G (n.*2906C>G) c.*2574C>G (n.*2574C>G) c.*5110C>G (n.*5110C>G) c.*2529C>G (n.*2529C>G) c.4191C>G (p.Thr1397=) n.8018C>G c.4557C>G (p.Thr1519=) c.3834C>G (p.Thr1278=) c.2385C>G (p.Thr795=) | |
2 | g.165386781C>T | CA429972453 | SCN2A | c.4587C>T (p.Thr1529=) c.*2906C>T (n.*2906C>T) c.*2574C>T (n.*2574C>T) c.*5110C>T (n.*5110C>T) c.*2529C>T (n.*2529C>T) c.4191C>T (p.Thr1397=) n.8018C>T c.4557C>T (p.Thr1519=) c.3834C>T (p.Thr1278=) c.2385C>T (p.Thr795=) | |
2 | g.165386782A= | CA1304563746 | SCN2A | c.4588A= (p.Lys1530=) c.*2907A= (n.*2907A=) c.*2575A= (n.*2575A=) c.*5111A= (n.*5111A=) c.*2530A= (n.*2530A=) c.4192A= (p.Lys1398=) n.8019A= c.4558A= (p.Lys1520=) c.3835A= (p.Lys1279=) c.2386A= (p.Lys796=) | |
2 | g.165386782A>C | CA349036228 | SCN2A | c.4588A>C (p.Lys1530Gln) c.*2907A>C (n.*2907A>C) c.*2575A>C (n.*2575A>C) c.*5111A>C (n.*5111A>C) c.*2530A>C (n.*2530A>C) c.4192A>C (p.Lys1398Gln) n.8019A>C c.4558A>C (p.Lys1520Gln) c.3835A>C (p.Lys1279Gln) c.2386A>C (p.Lys796Gln) | |
2 | g.165386782A>G | CA349036226 | SCN2A | c.4588A>G (p.Lys1530Glu) c.*2907A>G (n.*2907A>G) c.*2575A>G (n.*2575A>G) c.*5111A>G (n.*5111A>G) c.*2530A>G (n.*2530A>G) c.4192A>G (p.Lys1398Glu) n.8019A>G c.4558A>G (p.Lys1520Glu) c.3835A>G (p.Lys1279Glu) c.2386A>G (p.Lys796Glu) | |
2 | g.165386782A>T | CA349036227 | SCN2A | c.4588A>T (p.Lys1530Ter) c.*2907A>T (n.*2907A>T) c.*2575A>T (n.*2575A>T) c.*5111A>T (n.*5111A>T) c.*2530A>T (n.*2530A>T) c.4192A>T (p.Lys1398Ter) n.8019A>T c.4558A>T (p.Lys1520Ter) c.3835A>T (p.Lys1279Ter) c.2386A>T (p.Lys796Ter) | dbSNP |
2 | g.165386783A>C | CA349036229 | SCN2A | c.4589A>C (p.Lys1530Thr) c.*2908A>C (n.*2908A>C) c.*2576A>C (n.*2576A>C) c.*5112A>C (n.*5112A>C) c.*2531A>C (n.*2531A>C) c.4193A>C (p.Lys1398Thr) n.8020A>C c.4559A>C (p.Lys1520Thr) c.3836A>C (p.Lys1279Thr) c.2387A>C (p.Lys796Thr) | |
2 | g.165386783A>G | CA349036230 | SCN2A | c.4589A>G (p.Lys1530Arg) c.*2908A>G (n.*2908A>G) c.*2576A>G (n.*2576A>G) c.*5112A>G (n.*5112A>G) c.*2531A>G (n.*2531A>G) c.4193A>G (p.Lys1398Arg) n.8020A>G c.4559A>G (p.Lys1520Arg) c.3836A>G (p.Lys1279Arg) c.2387A>G (p.Lys796Arg) | |
2 | g.165386783A>T | CA349036231 | SCN2A | c.4589A>T (p.Lys1530Ile) c.*2908A>T (n.*2908A>T) c.*2576A>T (n.*2576A>T) c.*5112A>T (n.*5112A>T) c.*2531A>T (n.*2531A>T) c.4193A>T (p.Lys1398Ile) n.8020A>T c.4559A>T (p.Lys1520Ile) c.3836A>T (p.Lys1279Ile) c.2387A>T (p.Lys796Ile) | |
2 | g.165386784A= | CA1304563747 | SCN2A | c.4590A= (p.Lys1530=) c.*2909A= (n.*2909A=) c.*2577A= (n.*2577A=) c.*5113A= (n.*5113A=) c.*2532A= (n.*2532A=) c.4194A= (p.Lys1398=) n.8021A= c.4560A= (p.Lys1520=) c.3837A= (p.Lys1279=) c.2388A= (p.Lys796=) | |
2 | g.165386784A>C | CA349036232 | SCN2A | c.4590A>C (p.Lys1530Asn) c.*2909A>C (n.*2909A>C) c.*2577A>C (n.*2577A>C) c.*5113A>C (n.*5113A>C) c.*2532A>C (n.*2532A>C) c.4194A>C (p.Lys1398Asn) n.8021A>C c.4560A>C (p.Lys1520Asn) c.3837A>C (p.Lys1279Asn) c.2388A>C (p.Lys796Asn) | |
2 | g.165386784A>G | CA429972457 | SCN2A | c.4590A>G (p.Lys1530=) c.*2909A>G (n.*2909A>G) c.*2577A>G (n.*2577A>G) c.*5113A>G (n.*5113A>G) c.*2532A>G (n.*2532A>G) c.4194A>G (p.Lys1398=) n.8021A>G c.4560A>G (p.Lys1520=) c.3837A>G (p.Lys1279=) c.2388A>G (p.Lys796=) | dbSNP |
2 | g.165386784A>T | CA349036233 | SCN2A | c.4590A>T (p.Lys1530Asn) c.*2909A>T (n.*2909A>T) c.*2577A>T (n.*2577A>T) c.*5113A>T (n.*5113A>T) c.*2532A>T (n.*2532A>T) c.4194A>T (p.Lys1398Asn) n.8021A>T c.4560A>T (p.Lys1520Asn) c.3837A>T (p.Lys1279Asn) c.2388A>T (p.Lys796Asn) | |
2 | g.165386785C>A | CA349036234 | SCN2A | c.4591C>A (p.Gln1531Lys) c.*2910C>A (n.*2910C>A) c.*2578C>A (n.*2578C>A) c.*5114C>A (n.*5114C>A) c.*2533C>A (n.*2533C>A) c.4195C>A (p.Gln1399Lys) n.8022C>A c.4561C>A (p.Gln1521Lys) c.3838C>A (p.Gln1280Lys) c.2389C>A (p.Gln797Lys) | |
2 | g.165386785C= | CA1304563748 | SCN2A | c.4591C= (p.Gln1531=) c.*2910C= (n.*2910C=) c.*2578C= (n.*2578C=) c.*5114C= (n.*5114C=) c.*2533C= (n.*2533C=) c.4195C= (p.Gln1399=) n.8022C= c.4561C= (p.Gln1521=) c.3838C= (p.Gln1280=) c.2389C= (p.Gln797=) | |
2 | g.165386785C>G | CA349036235 | SCN2A | c.4591C>G (p.Gln1531Glu) c.*2910C>G (n.*2910C>G) c.*2578C>G (n.*2578C>G) c.*5114C>G (n.*5114C>G) c.*2533C>G (n.*2533C>G) c.4195C>G (p.Gln1399Glu) n.8022C>G c.4561C>G (p.Gln1521Glu) c.3838C>G (p.Gln1280Glu) c.2389C>G (p.Gln797Glu) | |
2 | g.165386785C>T | CA349036236 | SCN2A | c.4591C>T (p.Gln1531Ter) c.*2910C>T (n.*2910C>T) c.*2578C>T (n.*2578C>T) c.*5114C>T (n.*5114C>T) c.*2533C>T (n.*2533C>T) c.4195C>T (p.Gln1399Ter) n.8022C>T c.4561C>T (p.Gln1521Ter) c.3838C>T (p.Gln1280Ter) c.2389C>T (p.Gln797Ter) | ClinVar dbSNP |
2 | g.165386786A>C | CA349036237 | SCN2A | c.4592A>C (p.Gln1531Pro) c.*2911A>C (n.*2911A>C) c.*2579A>C (n.*2579A>C) c.*5115A>C (n.*5115A>C) c.*2534A>C (n.*2534A>C) c.4196A>C (p.Gln1399Pro) n.8023A>C c.4562A>C (p.Gln1521Pro) c.3839A>C (p.Gln1280Pro) c.2390A>C (p.Gln797Pro) | |
2 | g.165386786A>G | CA349036238 | SCN2A | c.4592A>G (p.Gln1531Arg) c.*2911A>G (n.*2911A>G) c.*2579A>G (n.*2579A>G) c.*5115A>G (n.*5115A>G) c.*2534A>G (n.*2534A>G) c.4196A>G (p.Gln1399Arg) n.8023A>G c.4562A>G (p.Gln1521Arg) c.3839A>G (p.Gln1280Arg) c.2390A>G (p.Gln797Arg) | |
2 | g.165386786A>T | CA349036239 | SCN2A | c.4592A>T (p.Gln1531Leu) c.*2911A>T (n.*2911A>T) c.*2579A>T (n.*2579A>T) c.*5115A>T (n.*5115A>T) c.*2534A>T (n.*2534A>T) c.4196A>T (p.Gln1399Leu) n.8023A>T c.4562A>T (p.Gln1521Leu) c.3839A>T (p.Gln1280Leu) c.2390A>T (p.Gln797Leu) | |
2 | g.165386787A>C | CA349036241 | SCN2A | c.4593A>C (p.Gln1531His) c.*2912A>C (n.*2912A>C) c.*2580A>C (n.*2580A>C) c.*5116A>C (n.*5116A>C) c.*2535A>C (n.*2535A>C) c.4197A>C (p.Gln1399His) n.8024A>C c.4563A>C (p.Gln1521His) c.3840A>C (p.Gln1280His) c.2391A>C (p.Gln797His) | |
2 | g.165386787A>G | CA429972468 | SCN2A | c.4593A>G (p.Gln1531=) c.*2912A>G (n.*2912A>G) c.*2580A>G (n.*2580A>G) c.*5116A>G (n.*5116A>G) c.*2535A>G (n.*2535A>G) c.4197A>G (p.Gln1399=) n.8024A>G c.4563A>G (p.Gln1521=) c.3840A>G (p.Gln1280=) c.2391A>G (p.Gln797=) | |
2 | g.165386787A>T | CA349036240 | SCN2A | c.4593A>T (p.Gln1531His) c.*2912A>T (n.*2912A>T) c.*2580A>T (n.*2580A>T) c.*5116A>T (n.*5116A>T) c.*2535A>T (n.*2535A>T) c.4197A>T (p.Gln1399His) n.8024A>T c.4563A>T (p.Gln1521His) c.3840A>T (p.Gln1280His) c.2391A>T (p.Gln797His) | ClinVar dbSNP |
2 | g.165386788G>A | CA349036242 | SCN2A | c.4594G>A (p.Val1532Ile) c.*2913G>A (n.*2913G>A) c.*2581G>A (n.*2581G>A) c.*5117G>A (n.*5117G>A) c.*2536G>A (n.*2536G>A) c.4198G>A (p.Val1400Ile) n.8025G>A c.4564G>A (p.Val1522Ile) c.3841G>A (p.Val1281Ile) c.2392G>A (p.Val798Ile) | |
2 | g.165386788G>C | CA349036243 | SCN2A | c.4594G>C (p.Val1532Leu) c.*2913G>C (n.*2913G>C) c.*2581G>C (n.*2581G>C) c.*5117G>C (n.*5117G>C) c.*2536G>C (n.*2536G>C) c.4198G>C (p.Val1400Leu) n.8025G>C c.4564G>C (p.Val1522Leu) c.3841G>C (p.Val1281Leu) c.2392G>C (p.Val798Leu) | |
2 | g.165386788G>T | CA349036244 | SCN2A | c.4594G>T (p.Val1532Phe) c.*2913G>T (n.*2913G>T) c.*2581G>T (n.*2581G>T) c.*5117G>T (n.*5117G>T) c.*2536G>T (n.*2536G>T) c.4198G>T (p.Val1400Phe) n.8025G>T c.4564G>T (p.Val1522Phe) c.3841G>T (p.Val1281Phe) c.2392G>T (p.Val798Phe) | |
2 | g.165386789T>A | CA349036245 | SCN2A | c.4595T>A (p.Val1532Asp) c.*2914T>A (n.*2914T>A) c.*2582T>A (n.*2582T>A) c.*5118T>A (n.*5118T>A) c.*2537T>A (n.*2537T>A) c.4199T>A (p.Val1400Asp) n.8026T>A c.4565T>A (p.Val1522Asp) c.3842T>A (p.Val1281Asp) c.2393T>A (p.Val798Asp) | |
2 | g.165386789T>C | CA349036246 | SCN2A | c.4595T>C (p.Val1532Ala) c.*2914T>C (n.*2914T>C) c.*2582T>C (n.*2582T>C) c.*5118T>C (n.*5118T>C) c.*2537T>C (n.*2537T>C) c.4199T>C (p.Val1400Ala) n.8026T>C c.4565T>C (p.Val1522Ala) c.3842T>C (p.Val1281Ala) c.2393T>C (p.Val798Ala) | gnomAD v4 |
2 | g.165386789T>G | CA349036247 | SCN2A | c.4595T>G (p.Val1532Gly) c.*2914T>G (n.*2914T>G) c.*2582T>G (n.*2582T>G) c.*5118T>G (n.*5118T>G) c.*2537T>G (n.*2537T>G) c.4199T>G (p.Val1400Gly) n.8026T>G c.4565T>G (p.Val1522Gly) c.3842T>G (p.Val1281Gly) c.2393T>G (p.Val798Gly) | |
2 | g.165386790del | CA2580614379 | SCN2A | c.4596del (p.Phe1533LeufsTer6) c.*2915del (n.*2915del) c.*2583del (n.*2583del) c.*5119del (n.*5119del) c.*2538del (n.*2538del) c.4200del (p.Phe1401LeufsTer6) n.8027del c.4566del (p.Phe1523LeufsTer6) c.3843del (p.Phe1282LeufsTer6) c.2394del (p.Phe799LeufsTer6) | ClinVar |
2 | g.165386790C>A | CA1940305 | SCN2A | c.4596C>A (p.Val1532=) c.*2915C>A (n.*2915C>A) c.*2583C>A (n.*2583C>A) c.*5119C>A (n.*5119C>A) c.*2538C>A (n.*2538C>A) c.4200C>A (p.Val1400=) n.8027C>A c.4566C>A (p.Val1522=) c.3843C>A (p.Val1281=) c.2394C>A (p.Val798=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.165386790C= | CA1304563749 | SCN2A | c.4596C= (p.Val1532=) c.*2915C= (n.*2915C=) c.*2583C= (n.*2583C=) c.*5119C= (n.*5119C=) c.*2538C= (n.*2538C=) c.4200C= (p.Val1400=) n.8027C= c.4566C= (p.Val1522=) c.3843C= (p.Val1281=) c.2394C= (p.Val798=) | |
2 | g.165386790C>G | CA429972471 | SCN2A | c.4596C>G (p.Val1532=) c.*2915C>G (n.*2915C>G) c.*2583C>G (n.*2583C>G) c.*5119C>G (n.*5119C>G) c.*2538C>G (n.*2538C>G) c.4200C>G (p.Val1400=) n.8027C>G c.4566C>G (p.Val1522=) c.3843C>G (p.Val1281=) c.2394C>G (p.Val798=) | ClinVar dbSNP |
2 | g.165386790C>T | CA429972473 | SCN2A | c.4596C>T (p.Val1532=) c.*2915C>T (n.*2915C>T) c.*2583C>T (n.*2583C>T) c.*5119C>T (n.*5119C>T) c.*2538C>T (n.*2538C>T) c.4200C>T (p.Val1400=) n.8027C>T c.4566C>T (p.Val1522=) c.3843C>T (p.Val1281=) c.2394C>T (p.Val798=) | COSMIC COSMIC |
2 | g.165386791T>A | CA349036248 | SCN2A | c.4597T>A (p.Phe1533Ile) c.*2916T>A (n.*2916T>A) c.*2584T>A (n.*2584T>A) c.*5120T>A (n.*5120T>A) c.*2539T>A (n.*2539T>A) c.4201T>A (p.Phe1401Ile) n.8028T>A c.4567T>A (p.Phe1523Ile) c.3844T>A (p.Phe1282Ile) c.2395T>A (p.Phe799Ile) | |
2 | g.165386791T>C | CA349036249 | SCN2A | c.4597T>C (p.Phe1533Leu) c.*2916T>C (n.*2916T>C) c.*2584T>C (n.*2584T>C) c.*5120T>C (n.*5120T>C) c.*2539T>C (n.*2539T>C) c.4201T>C (p.Phe1401Leu) n.8028T>C c.4567T>C (p.Phe1523Leu) c.3844T>C (p.Phe1282Leu) c.2395T>C (p.Phe799Leu) | |
2 | g.165386791T>G | CA349036250 | SCN2A | c.4597T>G (p.Phe1533Val) c.*2916T>G (n.*2916T>G) c.*2584T>G (n.*2584T>G) c.*5120T>G (n.*5120T>G) c.*2539T>G (n.*2539T>G) c.4201T>G (p.Phe1401Val) n.8028T>G c.4567T>G (p.Phe1523Val) c.3844T>G (p.Phe1282Val) c.2395T>G (p.Phe799Val) | dbSNP |
2 | g.165386791T= | CA1304563750 | SCN2A | c.4597T= (p.Phe1533=) c.*2916T= (n.*2916T=) c.*2584T= (n.*2584T=) c.*5120T= (n.*5120T=) c.*2539T= (n.*2539T=) c.4201T= (p.Phe1401=) n.8028T= c.4567T= (p.Phe1523=) c.3844T= (p.Phe1282=) c.2395T= (p.Phe799=) | |
2 | g.165386792T>A | CA349036251 | SCN2A | c.4598T>A (p.Phe1533Tyr) c.*2917T>A (n.*2917T>A) c.*2585T>A (n.*2585T>A) c.*5121T>A (n.*5121T>A) c.*2540T>A (n.*2540T>A) c.4202T>A (p.Phe1401Tyr) n.8029T>A c.4568T>A (p.Phe1523Tyr) c.3845T>A (p.Phe1282Tyr) c.2396T>A (p.Phe799Tyr) | |
2 | g.165386792T>C | CA349036252 | SCN2A | c.4598T>C (p.Phe1533Ser) c.*2917T>C (n.*2917T>C) c.*2585T>C (n.*2585T>C) c.*5121T>C (n.*5121T>C) c.*2540T>C (n.*2540T>C) c.4202T>C (p.Phe1401Ser) n.8029T>C c.4568T>C (p.Phe1523Ser) c.3845T>C (p.Phe1282Ser) c.2396T>C (p.Phe799Ser) | |
2 | g.165386792T>G | CA349036253 | SCN2A | c.4598T>G (p.Phe1533Cys) c.*2917T>G (n.*2917T>G) c.*2585T>G (n.*2585T>G) c.*5121T>G (n.*5121T>G) c.*2540T>G (n.*2540T>G) c.4202T>G (p.Phe1401Cys) n.8029T>G c.4568T>G (p.Phe1523Cys) c.3845T>G (p.Phe1282Cys) c.2396T>G (p.Phe799Cys) | |
2 | g.165386793T>A | CA349036255 | SCN2A | c.4599T>A (p.Phe1533Leu) c.*2918T>A (n.*2918T>A) c.*2586T>A (n.*2586T>A) c.*5122T>A (n.*5122T>A) c.*2541T>A (n.*2541T>A) c.4203T>A (p.Phe1401Leu) n.8030T>A c.4569T>A (p.Phe1523Leu) c.3846T>A (p.Phe1282Leu) c.2397T>A (p.Phe799Leu) | |
2 | g.165386793T>C | CA429972481 | SCN2A | c.4599T>C (p.Phe1533=) c.*2918T>C (n.*2918T>C) c.*2586T>C (n.*2586T>C) c.*5122T>C (n.*5122T>C) c.*2541T>C (n.*2541T>C) c.4203T>C (p.Phe1401=) n.8030T>C c.4569T>C (p.Phe1523=) c.3846T>C (p.Phe1282=) c.2397T>C (p.Phe799=) | |
2 | g.165386793T>G | CA349036254 | SCN2A | c.4599T>G (p.Phe1533Leu) c.*2918T>G (n.*2918T>G) c.*2586T>G (n.*2586T>G) c.*5122T>G (n.*5122T>G) c.*2541T>G (n.*2541T>G) c.4203T>G (p.Phe1401Leu) n.8030T>G c.4569T>G (p.Phe1523Leu) c.3846T>G (p.Phe1282Leu) c.2397T>G (p.Phe799Leu) | |
2 | g.165386794G>A | CA349036256 | SCN2A | c.4600G>A (p.Asp1534Asn) c.*2919G>A (n.*2919G>A) c.*2587G>A (n.*2587G>A) c.*5123G>A (n.*5123G>A) c.*2542G>A (n.*2542G>A) c.4204G>A (p.Asp1402Asn) n.8031G>A c.4570G>A (p.Asp1524Asn) c.3847G>A (p.Asp1283Asn) c.2398G>A (p.Asp800Asn) | |
2 | g.165386794G>C | CA349036257 | SCN2A | c.4600G>C (p.Asp1534His) c.*2919G>C (n.*2919G>C) c.*2587G>C (n.*2587G>C) c.*5123G>C (n.*5123G>C) c.*2542G>C (n.*2542G>C) c.4204G>C (p.Asp1402His) n.8031G>C c.4570G>C (p.Asp1524His) c.3847G>C (p.Asp1283His) c.2398G>C (p.Asp800His) | |
2 | g.165386794G>T | CA349036258 | SCN2A | c.4600G>T (p.Asp1534Tyr) c.*2919G>T (n.*2919G>T) c.*2587G>T (n.*2587G>T) c.*5123G>T (n.*5123G>T) c.*2542G>T (n.*2542G>T) c.4204G>T (p.Asp1402Tyr) n.8031G>T c.4570G>T (p.Asp1524Tyr) c.3847G>T (p.Asp1283Tyr) c.2398G>T (p.Asp800Tyr) | |
2 | g.165386795A>C | CA349036259 | SCN2A | c.4601A>C (p.Asp1534Ala) c.*2920A>C (n.*2920A>C) c.*2588A>C (n.*2588A>C) c.*5124A>C (n.*5124A>C) c.*2543A>C (n.*2543A>C) c.4205A>C (p.Asp1402Ala) n.8032A>C c.4571A>C (p.Asp1524Ala) c.3848A>C (p.Asp1283Ala) c.2399A>C (p.Asp800Ala) | |
2 | g.165386795A>G | CA349036260 | SCN2A | c.4601A>G (p.Asp1534Gly) c.*2920A>G (n.*2920A>G) c.*2588A>G (n.*2588A>G) c.*5124A>G (n.*5124A>G) c.*2543A>G (n.*2543A>G) c.4205A>G (p.Asp1402Gly) n.8032A>G c.4571A>G (p.Asp1524Gly) c.3848A>G (p.Asp1283Gly) c.2399A>G (p.Asp800Gly) | |
2 | g.165386795A>T | CA349036261 | SCN2A | c.4601A>T (p.Asp1534Val) c.*2920A>T (n.*2920A>T) c.*2588A>T (n.*2588A>T) c.*5124A>T (n.*5124A>T) c.*2543A>T (n.*2543A>T) c.4205A>T (p.Asp1402Val) n.8032A>T c.4571A>T (p.Asp1524Val) c.3848A>T (p.Asp1283Val) c.2399A>T (p.Asp800Val) | |
2 | g.165386796T>A | CA349036262 | SCN2A | c.4602T>A (p.Asp1534Glu) c.*2921T>A (n.*2921T>A) c.*2589T>A (n.*2589T>A) c.*5125T>A (n.*5125T>A) c.*2544T>A (n.*2544T>A) c.4206T>A (p.Asp1402Glu) n.8033T>A c.4572T>A (p.Asp1524Glu) c.3849T>A (p.Asp1283Glu) c.2400T>A (p.Asp800Glu) | |
2 | g.165386796T>C | CA429972485 | SCN2A | c.4602T>C (p.Asp1534=) c.*2921T>C (n.*2921T>C) c.*2589T>C (n.*2589T>C) c.*5125T>C (n.*5125T>C) c.*2544T>C (n.*2544T>C) c.4206T>C (p.Asp1402=) n.8033T>C c.4572T>C (p.Asp1524=) c.3849T>C (p.Asp1283=) c.2400T>C (p.Asp800=) | gnomAD v4 |
2 | g.165386796T>G | CA349036263 | SCN2A | c.4602T>G (p.Asp1534Glu) c.*2921T>G (n.*2921T>G) c.*2589T>G (n.*2589T>G) c.*5125T>G (n.*5125T>G) c.*2544T>G (n.*2544T>G) c.4206T>G (p.Asp1402Glu) n.8033T>G c.4572T>G (p.Asp1524Glu) c.3849T>G (p.Asp1283Glu) c.2400T>G (p.Asp800Glu) | |
2 | g.165386797A= | CA1304563751 | SCN2A | c.4603A= (p.Ile1535=) c.*2922A= (n.*2922A=) c.*2590A= (n.*2590A=) c.*5126A= (n.*5126A=) c.*2545A= (n.*2545A=) c.4207A= (p.Ile1403=) n.8034A= c.4573A= (p.Ile1525=) c.3850A= (p.Ile1284=) c.2401A= (p.Ile801=) | |
2 | g.165386797A>C | CA349036264 | SCN2A | c.4603A>C (p.Ile1535Leu) c.*2922A>C (n.*2922A>C) c.*2590A>C (n.*2590A>C) c.*5126A>C (n.*5126A>C) c.*2545A>C (n.*2545A>C) c.4207A>C (p.Ile1403Leu) n.8034A>C c.4573A>C (p.Ile1525Leu) c.3850A>C (p.Ile1284Leu) c.2401A>C (p.Ile801Leu) | |
2 | g.165386797A>G | CA349036266 | SCN2A | c.4603A>G (p.Ile1535Val) c.*2922A>G (n.*2922A>G) c.*2590A>G (n.*2590A>G) c.*5126A>G (n.*5126A>G) c.*2545A>G (n.*2545A>G) c.4207A>G (p.Ile1403Val) n.8034A>G c.4573A>G (p.Ile1525Val) c.3850A>G (p.Ile1284Val) c.2401A>G (p.Ile801Val) | ClinVar dbSNP |
2 | g.165386797A>T | CA349036265 | SCN2A | c.4603A>T (p.Ile1535Phe) c.*2922A>T (n.*2922A>T) c.*2590A>T (n.*2590A>T) c.*5126A>T (n.*5126A>T) c.*2545A>T (n.*2545A>T) c.4207A>T (p.Ile1403Phe) n.8034A>T c.4573A>T (p.Ile1525Phe) c.3850A>T (p.Ile1284Phe) c.2401A>T (p.Ile801Phe) | |
2 | g.165386798T>A | CA349036267 | SCN2A | c.4604T>A (p.Ile1535Asn) c.*2923T>A (n.*2923T>A) c.*2591T>A (n.*2591T>A) c.*5127T>A (n.*5127T>A) c.*2546T>A (n.*2546T>A) c.4208T>A (p.Ile1403Asn) n.8035T>A c.4574T>A (p.Ile1525Asn) c.3851T>A (p.Ile1284Asn) c.2402T>A (p.Ile801Asn) | |
2 | g.165386798T>C | CA349036268 | SCN2A | c.4604T>C (p.Ile1535Thr) c.*2923T>C (n.*2923T>C) c.*2591T>C (n.*2591T>C) c.*5127T>C (n.*5127T>C) c.*2546T>C (n.*2546T>C) c.4208T>C (p.Ile1403Thr) n.8035T>C c.4574T>C (p.Ile1525Thr) c.3851T>C (p.Ile1284Thr) c.2402T>C (p.Ile801Thr) | |
2 | g.165386798T>G | CA349036269 | SCN2A | c.4604T>G (p.Ile1535Ser) c.*2923T>G (n.*2923T>G) c.*2591T>G (n.*2591T>G) c.*5127T>G (n.*5127T>G) c.*2546T>G (n.*2546T>G) c.4208T>G (p.Ile1403Ser) n.8035T>G c.4574T>G (p.Ile1525Ser) c.3851T>G (p.Ile1284Ser) c.2402T>G (p.Ile801Ser) | |
2 | g.165386799C>A | CA429972490 | SCN2A | c.4605C>A (p.Ile1535=) c.*2924C>A (n.*2924C>A) c.*2592C>A (n.*2592C>A) c.*5128C>A (n.*5128C>A) c.*2547C>A (n.*2547C>A) c.4209C>A (p.Ile1403=) n.8036C>A c.4575C>A (p.Ile1525=) c.3852C>A (p.Ile1284=) c.2403C>A (p.Ile801=) | |
2 | g.165386799C>G | CA349036270 | SCN2A | c.4605C>G (p.Ile1535Met) c.*2924C>G (n.*2924C>G) c.*2592C>G (n.*2592C>G) c.*5128C>G (n.*5128C>G) c.*2547C>G (n.*2547C>G) c.4209C>G (p.Ile1403Met) n.8036C>G c.4575C>G (p.Ile1525Met) c.3852C>G (p.Ile1284Met) c.2403C>G (p.Ile801Met) | |
2 | g.165386799C>T | CA429972491 | SCN2A | c.4605C>T (p.Ile1535=) c.*2924C>T (n.*2924C>T) c.*2592C>T (n.*2592C>T) c.*5128C>T (n.*5128C>T) c.*2547C>T (n.*2547C>T) c.4209C>T (p.Ile1403=) n.8036C>T c.4575C>T (p.Ile1525=) c.3852C>T (p.Ile1284=) c.2403C>T (p.Ile801=) | |
2 | g.165386800A= | CA1304563752 | SCN2A | c.4606A= (p.Ser1536=) c.*2925A= (n.*2925A=) c.*2593A= (n.*2593A=) c.*5129A= (n.*5129A=) c.*2548A= (n.*2548A=) c.4210A= (p.Ser1404=) n.8037A= c.4576A= (p.Ser1526=) c.3853A= (p.Ser1285=) c.2404A= (p.Ser802=) | |
2 | g.165386800A>C | CA349036271 | SCN2A | c.4606A>C (p.Ser1536Arg) c.*2925A>C (n.*2925A>C) c.*2593A>C (n.*2593A>C) c.*5129A>C (n.*5129A>C) c.*2548A>C (n.*2548A>C) c.4210A>C (p.Ser1404Arg) n.8037A>C c.4576A>C (p.Ser1526Arg) c.3853A>C (p.Ser1285Arg) c.2404A>C (p.Ser802Arg) | |
2 | g.165386800A>G | CA349036273 | SCN2A | c.4606A>G (p.Ser1536Gly) c.*2925A>G (n.*2925A>G) c.*2593A>G (n.*2593A>G) c.*5129A>G (n.*5129A>G) c.*2548A>G (n.*2548A>G) c.4210A>G (p.Ser1404Gly) n.8037A>G c.4576A>G (p.Ser1526Gly) c.3853A>G (p.Ser1285Gly) c.2404A>G (p.Ser802Gly) | ClinVar dbSNP |
2 | g.165386800A>T | CA349036272 | SCN2A | c.4606A>T (p.Ser1536Cys) c.*2925A>T (n.*2925A>T) c.*2593A>T (n.*2593A>T) c.*5129A>T (n.*5129A>T) c.*2548A>T (n.*2548A>T) c.4210A>T (p.Ser1404Cys) n.8037A>T c.4576A>T (p.Ser1526Cys) c.3853A>T (p.Ser1285Cys) c.2404A>T (p.Ser802Cys) | |
2 | g.165386801G>A | CA59750878 | SCN2A | c.4607G>A (p.Ser1536Asn) c.*2926G>A (n.*2926G>A) c.*2594G>A (n.*2594G>A) c.*5130G>A (n.*5130G>A) c.*2549G>A (n.*2549G>A) c.4211G>A (p.Ser1404Asn) n.8038G>A c.4577G>A (p.Ser1526Asn) c.3854G>A (p.Ser1285Asn) c.2405G>A (p.Ser802Asn) | ClinVar dbSNP |
2 | g.165386801G>C | CA349036274 | SCN2A | c.4607G>C (p.Ser1536Thr) c.*2926G>C (n.*2926G>C) c.*2594G>C (n.*2594G>C) c.*5130G>C (n.*5130G>C) c.*2549G>C (n.*2549G>C) c.4211G>C (p.Ser1404Thr) n.8038G>C c.4577G>C (p.Ser1526Thr) c.3854G>C (p.Ser1285Thr) c.2405G>C (p.Ser802Thr) | |
2 | g.165386801G= | CA1304563753 | SCN2A | c.4607G= (p.Ser1536=) c.*2926G= (n.*2926G=) c.*2594G= (n.*2594G=) c.*5130G= (n.*5130G=) c.*2549G= (n.*2549G=) c.4211G= (p.Ser1404=) n.8038G= c.4577G= (p.Ser1526=) c.3854G= (p.Ser1285=) c.2405G= (p.Ser802=) | |
2 | g.165386801G>T | CA349036275 | SCN2A | c.4607G>T (p.Ser1536Ile) c.*2926G>T (n.*2926G>T) c.*2594G>T (n.*2594G>T) c.*5130G>T (n.*5130G>T) c.*2549G>T (n.*2549G>T) c.4211G>T (p.Ser1404Ile) n.8038G>T c.4577G>T (p.Ser1526Ile) c.3854G>T (p.Ser1285Ile) c.2405G>T (p.Ser802Ile) | |
2 | g.165386802C>A | CA349036276 | SCN2A | c.4608C>A (p.Ser1536Arg) c.*2927C>A (n.*2927C>A) c.*2595C>A (n.*2595C>A) c.*5131C>A (n.*5131C>A) c.*2550C>A (n.*2550C>A) c.4212C>A (p.Ser1404Arg) n.8039C>A c.4578C>A (p.Ser1526Arg) c.3855C>A (p.Ser1285Arg) c.2406C>A (p.Ser802Arg) | |
2 | g.165386802C= | CA1304563754 | SCN2A | c.4608C= (p.Ser1536=) c.*2927C= (n.*2927C=) c.*2595C= (n.*2595C=) c.*5131C= (n.*5131C=) c.*2550C= (n.*2550C=) c.4212C= (p.Ser1404=) n.8039C= c.4578C= (p.Ser1526=) c.3855C= (p.Ser1285=) c.2406C= (p.Ser802=) | |
2 | g.165386802C>G | CA349036277 | SCN2A | c.4608C>G (p.Ser1536Arg) c.*2927C>G (n.*2927C>G) c.*2595C>G (n.*2595C>G) c.*5131C>G (n.*5131C>G) c.*2550C>G (n.*2550C>G) c.4212C>G (p.Ser1404Arg) n.8039C>G c.4578C>G (p.Ser1526Arg) c.3855C>G (p.Ser1285Arg) c.2406C>G (p.Ser802Arg) | |
2 | g.165386802C>T | CA1940306 | SCN2A | c.4608C>T (p.Ser1536=) c.*2927C>T (n.*2927C>T) c.*2595C>T (n.*2595C>T) c.*5131C>T (n.*5131C>T) c.*2550C>T (n.*2550C>T) c.4212C>T (p.Ser1404=) n.8039C>T c.4578C>T (p.Ser1526=) c.3855C>T (p.Ser1285=) c.2406C>T (p.Ser802=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165386803A>C | CA349036278 | SCN2A | c.4609A>C (p.Ile1537Leu) c.*2928A>C (n.*2928A>C) c.*2596A>C (n.*2596A>C) c.*5132A>C (n.*5132A>C) c.*2551A>C (n.*2551A>C) c.4213A>C (p.Ile1405Leu) n.8040A>C c.4579A>C (p.Ile1527Leu) c.3856A>C (p.Ile1286Leu) c.2407A>C (p.Ile803Leu) | |
2 | g.165386803A>G | CA349036279 | SCN2A | c.4609A>G (p.Ile1537Val) c.*2928A>G (n.*2928A>G) c.*2596A>G (n.*2596A>G) c.*5132A>G (n.*5132A>G) c.*2551A>G (n.*2551A>G) c.4213A>G (p.Ile1405Val) n.8040A>G c.4579A>G (p.Ile1527Val) c.3856A>G (p.Ile1286Val) c.2407A>G (p.Ile803Val) | gnomAD v4 |
2 | g.165386803A>T | CA349036280 | SCN2A | c.4609A>T (p.Ile1537Phe) c.*2928A>T (n.*2928A>T) c.*2596A>T (n.*2596A>T) c.*5132A>T (n.*5132A>T) c.*2551A>T (n.*2551A>T) c.4213A>T (p.Ile1405Phe) n.8040A>T c.4579A>T (p.Ile1527Phe) c.3856A>T (p.Ile1286Phe) c.2407A>T (p.Ile803Phe) | |
2 | g.165386804T>A | CA349036281 | SCN2A | c.4610T>A (p.Ile1537Asn) c.*2929T>A (n.*2929T>A) c.*2597T>A (n.*2597T>A) c.*5133T>A (n.*5133T>A) c.*2552T>A (n.*2552T>A) c.4214T>A (p.Ile1405Asn) n.8041T>A c.4580T>A (p.Ile1527Asn) c.3857T>A (p.Ile1286Asn) c.2408T>A (p.Ile803Asn) | |
2 | g.165386804T>C | CA349036282 | SCN2A | c.4610T>C (p.Ile1537Thr) c.*2929T>C (n.*2929T>C) c.*2597T>C (n.*2597T>C) c.*5133T>C (n.*5133T>C) c.*2552T>C (n.*2552T>C) c.4214T>C (p.Ile1405Thr) n.8041T>C c.4580T>C (p.Ile1527Thr) c.3857T>C (p.Ile1286Thr) c.2408T>C (p.Ile803Thr) | ClinVar dbSNP |
2 | g.165386804T>G | CA317982 | SCN2A | c.4610T>G (p.Ile1537Ser) c.*2929T>G (n.*2929T>G) c.*2597T>G (n.*2597T>G) c.*5133T>G (n.*5133T>G) c.*2552T>G (n.*2552T>G) c.4214T>G (p.Ile1405Ser) n.8041T>G c.4580T>G (p.Ile1527Ser) c.3857T>G (p.Ile1286Ser) c.2408T>G (p.Ile803Ser) | dbSNP |
2 | g.165386804T= | CA1304563756 | SCN2A | c.4610T= (p.Ile1537=) c.*2929T= (n.*2929T=) c.*2597T= (n.*2597T=) c.*5133T= (n.*5133T=) c.*2552T= (n.*2552T=) c.4214T= (p.Ile1405=) n.8041T= c.4580T= (p.Ile1527=) c.3857T= (p.Ile1286=) c.2408T= (p.Ile803=) | |
2 | g.165386804_165386808delinsGCATC | CA318182 | SCN2A | c.4610_4614delinsGCATC (p.Ile1537_Met1538delinsSerIle) c.*2929_*2933delinsGCATC (n.*2929_*2933delinsGCATC) c.*2597_*2601delinsGCATC (n.*2597_*2601delinsGCATC) c.*5133_*5137delinsGCATC (n.*5133_*5137delinsGCATC) c.*2552_*2556delinsGCATC (n.*2552_*2556delinsGCATC) c.4214_4218delinsGCATC (p.Ile1405_Met1406delinsSerIle) n.8041_8045delinsGCATC c.4580_4584delinsGCATC (p.Ile1527_Met1528delinsSerIle) c.3857_3861delinsGCATC (p.Ile1286_Met1287delinsSerIle) c.2408_2412delinsGCATC (p.Ile803_Met804delinsSerIle) | ClinVar dbSNP |
2 | g.165386804_165386808delinsTCATG | CA1304563755 | SCN2A | c.4610_4614delinsTCATG (p.Ile1537=) c.*2929_*2933delinsTCATG (n.*2929_*2933delinsTCATG) c.*2597_*2601delinsTCATG (n.*2597_*2601delinsTCATG) c.*5133_*5137delinsTCATG (n.*5133_*5137delinsTCATG) c.*2552_*2556delinsTCATG (n.*2552_*2556delinsTCATG) c.4214_4218delinsTCATG (p.Ile1405=) n.8041_8045delinsTCATG c.4580_4584delinsTCATG (p.Ile1527=) c.3857_3861delinsTCATG (p.Ile1286=) c.2408_2412delinsTCATG (p.Ile803=) | |
2 | g.165386805C>A | CA429972500 | SCN2A | c.4611C>A (p.Ile1537=) c.*2930C>A (n.*2930C>A) c.*2598C>A (n.*2598C>A) c.*5134C>A (n.*5134C>A) c.*2553C>A (n.*2553C>A) c.4215C>A (p.Ile1405=) n.8042C>A c.4581C>A (p.Ile1527=) c.3858C>A (p.Ile1286=) c.2409C>A (p.Ile803=) | |
2 | g.165386805C>G | CA349036283 | SCN2A | c.4611C>G (p.Ile1537Met) c.*2930C>G (n.*2930C>G) c.*2598C>G (n.*2598C>G) c.*5134C>G (n.*5134C>G) c.*2553C>G (n.*2553C>G) c.4215C>G (p.Ile1405Met) n.8042C>G c.4581C>G (p.Ile1527Met) c.3858C>G (p.Ile1286Met) c.2409C>G (p.Ile803Met) | |
2 | g.165386805C>T | CA429972502 | SCN2A | c.4611C>T (p.Ile1537=) c.*2930C>T (n.*2930C>T) c.*2598C>T (n.*2598C>T) c.*5134C>T (n.*5134C>T) c.*2553C>T (n.*2553C>T) c.4215C>T (p.Ile1405=) n.8042C>T c.4581C>T (p.Ile1527=) c.3858C>T (p.Ile1286=) c.2409C>T (p.Ile803=) | |
2 | g.165386806A= | CA1304563757 | SCN2A | c.4612A= (p.Met1538=) c.*2931A= (n.*2931A=) c.*2599A= (n.*2599A=) c.*5135A= (n.*5135A=) c.*2554A= (n.*2554A=) c.4216A= (p.Met1406=) n.8043A= c.4582A= (p.Met1528=) c.3859A= (p.Met1287=) c.2410A= (p.Met804=) | |
2 | g.165386806A>C | CA349036284 | SCN2A | c.4612A>C (p.Met1538Leu) c.*2931A>C (n.*2931A>C) c.*2599A>C (n.*2599A>C) c.*5135A>C (n.*5135A>C) c.*2554A>C (n.*2554A>C) c.4216A>C (p.Met1406Leu) n.8043A>C c.4582A>C (p.Met1528Leu) c.3859A>C (p.Met1287Leu) c.2410A>C (p.Met804Leu) | |
2 | g.165386806A>G | CA317988 | SCN2A | c.4612A>G (p.Met1538Val) c.*2931A>G (n.*2931A>G) c.*2599A>G (n.*2599A>G) c.*5135A>G (n.*5135A>G) c.*2554A>G (n.*2554A>G) c.4216A>G (p.Met1406Val) n.8043A>G c.4582A>G (p.Met1528Val) c.3859A>G (p.Met1287Val) c.2410A>G (p.Met804Val) | ClinVar dbSNP |
2 | g.165386806A>T | CA349036285 | SCN2A | c.4612A>T (p.Met1538Leu) c.*2931A>T (n.*2931A>T) c.*2599A>T (n.*2599A>T) c.*5135A>T (n.*5135A>T) c.*2554A>T (n.*2554A>T) c.4216A>T (p.Met1406Leu) n.8043A>T c.4582A>T (p.Met1528Leu) c.3859A>T (p.Met1287Leu) c.2410A>T (p.Met804Leu) | |
2 | g.165386807T>A | CA349036286 | SCN2A | c.4613T>A (p.Met1538Lys) c.*2932T>A (n.*2932T>A) c.*2600T>A (n.*2600T>A) c.*5136T>A (n.*5136T>A) c.*2555T>A (n.*2555T>A) c.4217T>A (p.Met1406Lys) n.8044T>A c.4583T>A (p.Met1528Lys) c.3860T>A (p.Met1287Lys) c.2411T>A (p.Met804Lys) | |
2 | g.165386807T>C | CA349036288 | SCN2A | c.4613T>C (p.Met1538Thr) c.*2932T>C (n.*2932T>C) c.*2600T>C (n.*2600T>C) c.*5136T>C (n.*5136T>C) c.*2555T>C (n.*2555T>C) c.4217T>C (p.Met1406Thr) n.8044T>C c.4583T>C (p.Met1528Thr) c.3860T>C (p.Met1287Thr) c.2411T>C (p.Met804Thr) | |
2 | g.165386807T>G | CA349036287 | SCN2A | c.4613T>G (p.Met1538Arg) c.*2932T>G (n.*2932T>G) c.*2600T>G (n.*2600T>G) c.*5136T>G (n.*5136T>G) c.*2555T>G (n.*2555T>G) c.4217T>G (p.Met1406Arg) n.8044T>G c.4583T>G (p.Met1528Arg) c.3860T>G (p.Met1287Arg) c.2411T>G (p.Met804Arg) | |
2 | g.165386808G>A | CA349036289 | SCN2A | c.4614G>A (p.Met1538Ile) c.*2933G>A (n.*2933G>A) c.*2601G>A (n.*2601G>A) c.*5137G>A (n.*5137G>A) c.*2556G>A (n.*2556G>A) c.4218G>A (p.Met1406Ile) n.8045G>A c.4584G>A (p.Met1528Ile) c.3861G>A (p.Met1287Ile) c.2412G>A (p.Met804Ile) | ClinVar dbSNP |
2 | g.165386808G>C | CA317991 | SCN2A | c.4614G>C (p.Met1538Ile) c.*2933G>C (n.*2933G>C) c.*2601G>C (n.*2601G>C) c.*5137G>C (n.*5137G>C) c.*2556G>C (n.*2556G>C) c.4218G>C (p.Met1406Ile) n.8045G>C c.4584G>C (p.Met1528Ile) c.3861G>C (p.Met1287Ile) c.2412G>C (p.Met804Ile) | ClinVar dbSNP gnomAD v4 |
2 | g.165386808G= | CA1304563758 | SCN2A | c.4614G= (p.Met1538=) c.*2933G= (n.*2933G=) c.*2601G= (n.*2601G=) c.*5137G= (n.*5137G=) c.*2556G= (n.*2556G=) c.4218G= (p.Met1406=) n.8045G= c.4584G= (p.Met1528=) c.3861G= (p.Met1287=) c.2412G= (p.Met804=) | |
2 | g.165386808G>T | CA349036290 | SCN2A | c.4614G>T (p.Met1538Ile) c.*2933G>T (n.*2933G>T) c.*2601G>T (n.*2601G>T) c.*5137G>T (n.*5137G>T) c.*2556G>T (n.*2556G>T) c.4218G>T (p.Met1406Ile) n.8045G>T c.4584G>T (p.Met1528Ile) c.3861G>T (p.Met1287Ile) c.2412G>T (p.Met804Ile) | ClinVar dbSNP |
2 | g.165386809A= | CA1304563759 | SCN2A | c.4615A= (p.Ile1539=) c.*2934A= (n.*2934A=) c.*2602A= (n.*2602A=) c.*5138A= (n.*5138A=) c.*2557A= (n.*2557A=) c.4219A= (p.Ile1407=) n.8046A= c.4585A= (p.Ile1529=) c.3862A= (p.Ile1288=) c.2413A= (p.Ile805=) | |
2 | g.165386809A>C | CA349036291 | SCN2A | c.4615A>C (p.Ile1539Leu) c.*2934A>C (n.*2934A>C) c.*2602A>C (n.*2602A>C) c.*5138A>C (n.*5138A>C) c.*2557A>C (n.*2557A>C) c.4219A>C (p.Ile1407Leu) n.8046A>C c.4585A>C (p.Ile1529Leu) c.3862A>C (p.Ile1288Leu) c.2413A>C (p.Ile805Leu) | |
2 | g.165386809A>G | CA1940307 | SCN2A | c.4615A>G (p.Ile1539Val) c.*2934A>G (n.*2934A>G) c.*2602A>G (n.*2602A>G) c.*5138A>G (n.*5138A>G) c.*2557A>G (n.*2557A>G) c.4219A>G (p.Ile1407Val) n.8046A>G c.4585A>G (p.Ile1529Val) c.3862A>G (p.Ile1288Val) c.2413A>G (p.Ile805Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165386809A>T | CA349036292 | SCN2A | c.4615A>T (p.Ile1539Phe) c.*2934A>T (n.*2934A>T) c.*2602A>T (n.*2602A>T) c.*5138A>T (n.*5138A>T) c.*2557A>T (n.*2557A>T) c.4219A>T (p.Ile1407Phe) n.8046A>T c.4585A>T (p.Ile1529Phe) c.3862A>T (p.Ile1288Phe) c.2413A>T (p.Ile805Phe) | dbSNP gnomAD v2 |
2 | g.165386810T>A | CA349036293 | SCN2A | c.4616T>A (p.Ile1539Asn) c.*2935T>A (n.*2935T>A) c.*2603T>A (n.*2603T>A) c.*5139T>A (n.*5139T>A) c.*2558T>A (n.*2558T>A) c.4220T>A (p.Ile1407Asn) n.8047T>A c.4586T>A (p.Ile1529Asn) c.3863T>A (p.Ile1288Asn) c.2414T>A (p.Ile805Asn) | |
2 | g.165386810T>C | CA349036294 | SCN2A | c.4616T>C (p.Ile1539Thr) c.*2935T>C (n.*2935T>C) c.*2603T>C (n.*2603T>C) c.*5139T>C (n.*5139T>C) c.*2558T>C (n.*2558T>C) c.4220T>C (p.Ile1407Thr) n.8047T>C c.4586T>C (p.Ile1529Thr) c.3863T>C (p.Ile1288Thr) c.2414T>C (p.Ile805Thr) | |
2 | g.165386810T>G | CA349036295 | SCN2A | c.4616T>G (p.Ile1539Ser) c.*2935T>G (n.*2935T>G) c.*2603T>G (n.*2603T>G) c.*5139T>G (n.*5139T>G) c.*2558T>G (n.*2558T>G) c.4220T>G (p.Ile1407Ser) n.8047T>G c.4586T>G (p.Ile1529Ser) c.3863T>G (p.Ile1288Ser) c.2414T>G (p.Ile805Ser) | |
2 | g.165386811C>A | CA1940308 | SCN2A | c.4617C>A (p.Ile1539=) c.*2936C>A (n.*2936C>A) c.*2604C>A (n.*2604C>A) c.*5140C>A (n.*5140C>A) c.*2559C>A (n.*2559C>A) c.4221C>A (p.Ile1407=) n.8048C>A c.4587C>A (p.Ile1529=) c.3864C>A (p.Ile1288=) c.2415C>A (p.Ile805=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165386811C= | CA1304563760 | SCN2A | c.4617C= (p.Ile1539=) c.*2936C= (n.*2936C=) c.*2604C= (n.*2604C=) c.*5140C= (n.*5140C=) c.*2559C= (n.*2559C=) c.4221C= (p.Ile1407=) n.8048C= c.4587C= (p.Ile1529=) c.3864C= (p.Ile1288=) c.2415C= (p.Ile805=) | |
2 | g.165386811C>G | CA349036296 | SCN2A | c.4617C>G (p.Ile1539Met) c.*2936C>G (n.*2936C>G) c.*2604C>G (n.*2604C>G) c.*5140C>G (n.*5140C>G) c.*2559C>G (n.*2559C>G) c.4221C>G (p.Ile1407Met) n.8048C>G c.4587C>G (p.Ile1529Met) c.3864C>G (p.Ile1288Met) c.2415C>G (p.Ile805Met) | |
2 | g.165386811C>T | CA429972508 | SCN2A | c.4617C>T (p.Ile1539=) c.*2936C>T (n.*2936C>T) c.*2604C>T (n.*2604C>T) c.*5140C>T (n.*5140C>T) c.*2559C>T (n.*2559C>T) c.4221C>T (p.Ile1407=) n.8048C>T c.4587C>T (p.Ile1529=) c.3864C>T (p.Ile1288=) c.2415C>T (p.Ile805=) | dbSNP gnomAD v2 |
2 | g.165386812C>A | CA349036298 | SCN2A | c.4618C>A (p.Leu1540Ile) c.*2937C>A (n.*2937C>A) c.*2605C>A (n.*2605C>A) c.*5141C>A (n.*5141C>A) c.*2560C>A (n.*2560C>A) c.4222C>A (p.Leu1408Ile) n.8049C>A c.4588C>A (p.Leu1530Ile) c.3865C>A (p.Leu1289Ile) c.2416C>A (p.Leu806Ile) | |
2 | g.165386812C= | CA1304563761 | SCN2A | c.4618C= (p.Leu1540=) c.*2937C= (n.*2937C=) c.*2605C= (n.*2605C=) c.*5141C= (n.*5141C=) c.*2560C= (n.*2560C=) c.4222C= (p.Leu1408=) n.8049C= c.4588C= (p.Leu1530=) c.3865C= (p.Leu1289=) c.2416C= (p.Leu806=) | |
2 | g.165386812C>G | CA349036297 | SCN2A | c.4618C>G (p.Leu1540Val) c.*2937C>G (n.*2937C>G) c.*2605C>G (n.*2605C>G) c.*5141C>G (n.*5141C>G) c.*2560C>G (n.*2560C>G) c.4222C>G (p.Leu1408Val) n.8049C>G c.4588C>G (p.Leu1530Val) c.3865C>G (p.Leu1289Val) c.2416C>G (p.Leu806Val) | |
2 | g.165386812C>T | CA1940309 | SCN2A | c.4618C>T (p.Leu1540Phe) c.*2937C>T (n.*2937C>T) c.*2605C>T (n.*2605C>T) c.*5141C>T (n.*5141C>T) c.*2560C>T (n.*2560C>T) c.4222C>T (p.Leu1408Phe) n.8049C>T c.4588C>T (p.Leu1530Phe) c.3865C>T (p.Leu1289Phe) c.2416C>T (p.Leu806Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165386813T>A | CA349036299 | SCN2A | c.4619T>A (p.Leu1540His) c.*2938T>A (n.*2938T>A) c.*2606T>A (n.*2606T>A) c.*5142T>A (n.*5142T>A) c.*2561T>A (n.*2561T>A) c.4223T>A (p.Leu1408His) n.8050T>A c.4589T>A (p.Leu1530His) c.3866T>A (p.Leu1289His) c.2417T>A (p.Leu806His) | |
2 | g.165386813T>C | CA349036300 | SCN2A | c.4619T>C (p.Leu1540Pro) c.*2938T>C (n.*2938T>C) c.*2606T>C (n.*2606T>C) c.*5142T>C (n.*5142T>C) c.*2561T>C (n.*2561T>C) c.4223T>C (p.Leu1408Pro) n.8050T>C c.4589T>C (p.Leu1530Pro) c.3866T>C (p.Leu1289Pro) c.2417T>C (p.Leu806Pro) | |
2 | g.165386813T>G | CA349036301 | SCN2A | c.4619T>G (p.Leu1540Arg) c.*2938T>G (n.*2938T>G) c.*2606T>G (n.*2606T>G) c.*5142T>G (n.*5142T>G) c.*2561T>G (n.*2561T>G) c.4223T>G (p.Leu1408Arg) n.8050T>G c.4589T>G (p.Leu1530Arg) c.3866T>G (p.Leu1289Arg) c.2417T>G (p.Leu806Arg) | |
2 | g.165386814C>A | CA429972510 | SCN2A | c.4620C>A (p.Leu1540=) c.*2939C>A (n.*2939C>A) c.*2607C>A (n.*2607C>A) c.*5143C>A (n.*5143C>A) c.*2562C>A (n.*2562C>A) c.4224C>A (p.Leu1408=) n.8051C>A c.4590C>A (p.Leu1530=) c.3867C>A (p.Leu1289=) c.2418C>A (p.Leu806=) | |
2 | g.165386814C= | CA1304563762 | SCN2A | c.4620C= (p.Leu1540=) c.*2939C= (n.*2939C=) c.*2607C= (n.*2607C=) c.*5143C= (n.*5143C=) c.*2562C= (n.*2562C=) c.4224C= (p.Leu1408=) n.8051C= c.4590C= (p.Leu1530=) c.3867C= (p.Leu1289=) c.2418C= (p.Leu806=) | |
2 | g.165386814C>G | CA429972512 | SCN2A | c.4620C>G (p.Leu1540=) c.*2939C>G (n.*2939C>G) c.*2607C>G (n.*2607C>G) c.*5143C>G (n.*5143C>G) c.*2562C>G (n.*2562C>G) c.4224C>G (p.Leu1408=) n.8051C>G c.4590C>G (p.Leu1530=) c.3867C>G (p.Leu1289=) c.2418C>G (p.Leu806=) | |
2 | g.165386814C>T | CA1940310 | SCN2A | c.4620C>T (p.Leu1540=) c.*2939C>T (n.*2939C>T) c.*2607C>T (n.*2607C>T) c.*5143C>T (n.*5143C>T) c.*2562C>T (n.*2562C>T) c.4224C>T (p.Leu1408=) n.8051C>T c.4590C>T (p.Leu1530=) c.3867C>T (p.Leu1289=) c.2418C>T (p.Leu806=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165386815A>C | CA349036302 | SCN2A | c.4621A>C (p.Ile1541Leu) c.*2940A>C (n.*2940A>C) c.*2608A>C (n.*2608A>C) c.*5144A>C (n.*5144A>C) c.*2563A>C (n.*2563A>C) c.4225A>C (p.Ile1409Leu) n.8052A>C c.4591A>C (p.Ile1531Leu) c.3868A>C (p.Ile1290Leu) c.2419A>C (p.Ile807Leu) | |
2 | g.165386815A>G | CA349036303 | SCN2A | c.4621A>G (p.Ile1541Val) c.*2940A>G (n.*2940A>G) c.*2608A>G (n.*2608A>G) c.*5144A>G (n.*5144A>G) c.*2563A>G (n.*2563A>G) c.4225A>G (p.Ile1409Val) n.8052A>G c.4591A>G (p.Ile1531Val) c.3868A>G (p.Ile1290Val) c.2419A>G (p.Ile807Val) | |
2 | g.165386815A>T | CA349036304 | SCN2A | c.4621A>T (p.Ile1541Phe) c.*2940A>T (n.*2940A>T) c.*2608A>T (n.*2608A>T) c.*5144A>T (n.*5144A>T) c.*2563A>T (n.*2563A>T) c.4225A>T (p.Ile1409Phe) n.8052A>T c.4591A>T (p.Ile1531Phe) c.3868A>T (p.Ile1290Phe) c.2419A>T (p.Ile807Phe) | |
2 | g.165386816T>A | CA349036305 | SCN2A | c.4622T>A (p.Ile1541Asn) c.*2941T>A (n.*2941T>A) c.*2609T>A (n.*2609T>A) c.*5145T>A (n.*5145T>A) c.*2564T>A (n.*2564T>A) c.4226T>A (p.Ile1409Asn) n.8053T>A c.4592T>A (p.Ile1531Asn) c.3869T>A (p.Ile1290Asn) c.2420T>A (p.Ile807Asn) | ClinVar |
2 | g.165386816T>C | CA349036306 | SCN2A | c.4622T>C (p.Ile1541Thr) c.*2941T>C (n.*2941T>C) c.*2609T>C (n.*2609T>C) c.*5145T>C (n.*5145T>C) c.*2564T>C (n.*2564T>C) c.4226T>C (p.Ile1409Thr) n.8053T>C c.4592T>C (p.Ile1531Thr) c.3869T>C (p.Ile1290Thr) c.2420T>C (p.Ile807Thr) | |
2 | g.165386816T>G | CA349036307 | SCN2A | c.4622T>G (p.Ile1541Ser) c.*2941T>G (n.*2941T>G) c.*2609T>G (n.*2609T>G) c.*5145T>G (n.*5145T>G) c.*2564T>G (n.*2564T>G) c.4226T>G (p.Ile1409Ser) n.8053T>G c.4592T>G (p.Ile1531Ser) c.3869T>G (p.Ile1290Ser) c.2420T>G (p.Ile807Ser) | |
2 | g.165386817C>A | CA429972518 | SCN2A | c.4623C>A (p.Ile1541=) c.*2942C>A (n.*2942C>A) c.*2610C>A (n.*2610C>A) c.*5146C>A (n.*5146C>A) c.*2565C>A (n.*2565C>A) c.4227C>A (p.Ile1409=) n.8054C>A c.4593C>A (p.Ile1531=) c.3870C>A (p.Ile1290=) c.2421C>A (p.Ile807=) | |
2 | g.165386817C>G | CA349036308 | SCN2A | c.4623C>G (p.Ile1541Met) c.*2942C>G (n.*2942C>G) c.*2610C>G (n.*2610C>G) c.*5146C>G (n.*5146C>G) c.*2565C>G (n.*2565C>G) c.4227C>G (p.Ile1409Met) n.8054C>G c.4593C>G (p.Ile1531Met) c.3870C>G (p.Ile1290Met) c.2421C>G (p.Ile807Met) | ClinVar |
2 | g.165386817C>T | CA429972515 | SCN2A | c.4623C>T (p.Ile1541=) c.*2942C>T (n.*2942C>T) c.*2610C>T (n.*2610C>T) c.*5146C>T (n.*5146C>T) c.*2565C>T (n.*2565C>T) c.4227C>T (p.Ile1409=) n.8054C>T c.4593C>T (p.Ile1531=) c.3870C>T (p.Ile1290=) c.2421C>T (p.Ile807=) | |
2 | g.165386818T>A | CA349036311 | SCN2A | c.4624T>A (p.Cys1542Ser) c.*2943T>A (n.*2943T>A) c.*2611T>A (n.*2611T>A) c.*5147T>A (n.*5147T>A) c.*2566T>A (n.*2566T>A) c.4228T>A (p.Cys1410Ser) n.8055T>A c.4594T>A (p.Cys1532Ser) c.3871T>A (p.Cys1291Ser) c.2422T>A (p.Cys808Ser) | |
2 | g.165386818T>C | CA349036310 | SCN2A | c.4624T>C (p.Cys1542Arg) c.*2943T>C (n.*2943T>C) c.*2611T>C (n.*2611T>C) c.*5147T>C (n.*5147T>C) c.*2566T>C (n.*2566T>C) c.4228T>C (p.Cys1410Arg) n.8055T>C c.4594T>C (p.Cys1532Arg) c.3871T>C (p.Cys1291Arg) c.2422T>C (p.Cys808Arg) | |
2 | g.165386818T>G | CA349036309 | SCN2A | c.4624T>G (p.Cys1542Gly) c.*2943T>G (n.*2943T>G) c.*2611T>G (n.*2611T>G) c.*5147T>G (n.*5147T>G) c.*2566T>G (n.*2566T>G) c.4228T>G (p.Cys1410Gly) n.8055T>G c.4594T>G (p.Cys1532Gly) c.3871T>G (p.Cys1291Gly) c.2422T>G (p.Cys808Gly) | |
2 | g.165386819G>A | CA349036312 | SCN2A | c.4625G>A (p.Cys1542Tyr) c.*2944G>A (n.*2944G>A) c.*2612G>A (n.*2612G>A) c.*5148G>A (n.*5148G>A) c.*2567G>A (n.*2567G>A) c.4229G>A (p.Cys1410Tyr) n.8056G>A c.4595G>A (p.Cys1532Tyr) c.3872G>A (p.Cys1291Tyr) c.2423G>A (p.Cys808Tyr) | |
2 | g.165386819G>C | CA349036313 | SCN2A | c.4625G>C (p.Cys1542Ser) c.*2944G>C (n.*2944G>C) c.*2612G>C (n.*2612G>C) c.*5148G>C (n.*5148G>C) c.*2567G>C (n.*2567G>C) c.4229G>C (p.Cys1410Ser) n.8056G>C c.4595G>C (p.Cys1532Ser) c.3872G>C (p.Cys1291Ser) c.2423G>C (p.Cys808Ser) | ClinVar |
2 | g.165386819G= | CA1304563763 | SCN2A | c.4625G= (p.Cys1542=) c.*2944G= (n.*2944G=) c.*2612G= (n.*2612G=) c.*5148G= (n.*5148G=) c.*2567G= (n.*2567G=) c.4229G= (p.Cys1410=) n.8056G= c.4595G= (p.Cys1532=) c.3872G= (p.Cys1291=) c.2423G= (p.Cys808=) | |
2 | g.165386819G>T | CA349036314 | SCN2A | c.4625G>T (p.Cys1542Phe) c.*2944G>T (n.*2944G>T) c.*2612G>T (n.*2612G>T) c.*5148G>T (n.*5148G>T) c.*2567G>T (n.*2567G>T) c.4229G>T (p.Cys1410Phe) n.8056G>T c.4595G>T (p.Cys1532Phe) c.3872G>T (p.Cys1291Phe) c.2423G>T (p.Cys808Phe) | dbSNP |
2 | g.165386820C>A | CA349036315 | SCN2A | c.4626C>A (p.Cys1542Ter) c.*2945C>A (n.*2945C>A) c.*2613C>A (n.*2613C>A) c.*5149C>A (n.*5149C>A) c.*2568C>A (n.*2568C>A) c.4230C>A (p.Cys1410Ter) n.8057C>A c.4596C>A (p.Cys1532Ter) c.3873C>A (p.Cys1291Ter) c.2424C>A (p.Cys808Ter) | dbSNP |
2 | g.165386820C= | CA1304563764 | SCN2A | c.4626C= (p.Cys1542=) c.*2945C= (n.*2945C=) c.*2613C= (n.*2613C=) c.*5149C= (n.*5149C=) c.*2568C= (n.*2568C=) c.4230C= (p.Cys1410=) n.8057C= c.4596C= (p.Cys1532=) c.3873C= (p.Cys1291=) c.2424C= (p.Cys808=) | |
2 | g.165386820C>G | CA349036316 | SCN2A | c.4626C>G (p.Cys1542Trp) c.*2945C>G (n.*2945C>G) c.*2613C>G (n.*2613C>G) c.*5149C>G (n.*5149C>G) c.*2568C>G (n.*2568C>G) c.4230C>G (p.Cys1410Trp) n.8057C>G c.4596C>G (p.Cys1532Trp) c.3873C>G (p.Cys1291Trp) c.2424C>G (p.Cys808Trp) | |
2 | g.165386820C>T | CA429972525 | SCN2A | c.4626C>T (p.Cys1542=) c.*2945C>T (n.*2945C>T) c.*2613C>T (n.*2613C>T) c.*5149C>T (n.*5149C>T) c.*2568C>T (n.*2568C>T) c.4230C>T (p.Cys1410=) n.8057C>T c.4596C>T (p.Cys1532=) c.3873C>T (p.Cys1291=) c.2424C>T (p.Cys808=) | ClinVar dbSNP gnomAD v4 |
2 | g.165386821C>A | CA349036319 | SCN2A | c.4627C>A (p.Leu1543Ile) c.*2946C>A (n.*2946C>A) c.*2614C>A (n.*2614C>A) c.*5150C>A (n.*5150C>A) c.*2569C>A (n.*2569C>A) c.4231C>A (p.Leu1411Ile) n.8058C>A c.4597C>A (p.Leu1533Ile) c.3874C>A (p.Leu1292Ile) c.2425C>A (p.Leu809Ile) | |
2 | g.165386821C>G | CA349036318 | SCN2A | c.4627C>G (p.Leu1543Val) c.*2946C>G (n.*2946C>G) c.*2614C>G (n.*2614C>G) c.*5150C>G (n.*5150C>G) c.*2569C>G (n.*2569C>G) c.4231C>G (p.Leu1411Val) n.8058C>G c.4597C>G (p.Leu1533Val) c.3874C>G (p.Leu1292Val) c.2425C>G (p.Leu809Val) | |
2 | g.165386821C>T | CA349036317 | SCN2A | c.4627C>T (p.Leu1543Phe) c.*2946C>T (n.*2946C>T) c.*2614C>T (n.*2614C>T) c.*5150C>T (n.*5150C>T) c.*2569C>T (n.*2569C>T) c.4231C>T (p.Leu1411Phe) n.8058C>T c.4597C>T (p.Leu1533Phe) c.3874C>T (p.Leu1292Phe) c.2425C>T (p.Leu809Phe) | |
2 | g.165386822T>A | CA349036320 | SCN2A | c.4628T>A (p.Leu1543His) c.*2947T>A (n.*2947T>A) c.*2615T>A (n.*2615T>A) c.*5151T>A (n.*5151T>A) c.*2570T>A (n.*2570T>A) c.4232T>A (p.Leu1411His) n.8059T>A c.4598T>A (p.Leu1533His) c.3875T>A (p.Leu1292His) c.2426T>A (p.Leu809His) | |
2 | g.165386822T>C | CA349036321 | SCN2A | c.4628T>C (p.Leu1543Pro) c.*2947T>C (n.*2947T>C) c.*2615T>C (n.*2615T>C) c.*5151T>C (n.*5151T>C) c.*2570T>C (n.*2570T>C) c.4232T>C (p.Leu1411Pro) n.8059T>C c.4598T>C (p.Leu1533Pro) c.3875T>C (p.Leu1292Pro) c.2426T>C (p.Leu809Pro) | |
2 | g.165386822T>G | CA349036322 | SCN2A | c.4628T>G (p.Leu1543Arg) c.*2947T>G (n.*2947T>G) c.*2615T>G (n.*2615T>G) c.*5151T>G (n.*5151T>G) c.*2570T>G (n.*2570T>G) c.4232T>G (p.Leu1411Arg) n.8059T>G c.4598T>G (p.Leu1533Arg) c.3875T>G (p.Leu1292Arg) c.2426T>G (p.Leu809Arg) | |
2 | g.165386823T>A | CA429972530 | SCN2A | c.4629T>A (p.Leu1543=) c.*2948T>A (n.*2948T>A) c.*2616T>A (n.*2616T>A) c.*5152T>A (n.*5152T>A) c.*2571T>A (n.*2571T>A) c.4233T>A (p.Leu1411=) n.8060T>A c.4599T>A (p.Leu1533=) c.3876T>A (p.Leu1292=) c.2427T>A (p.Leu809=) | |
2 | g.165386823T>C | CA429972533 | SCN2A | c.4629T>C (p.Leu1543=) c.*2948T>C (n.*2948T>C) c.*2616T>C (n.*2616T>C) c.*5152T>C (n.*5152T>C) c.*2571T>C (n.*2571T>C) c.4233T>C (p.Leu1411=) n.8060T>C c.4599T>C (p.Leu1533=) c.3876T>C (p.Leu1292=) c.2427T>C (p.Leu809=) | |
2 | g.165386823T>G | CA429972532 | SCN2A | c.4629T>G (p.Leu1543=) c.*2948T>G (n.*2948T>G) c.*2616T>G (n.*2616T>G) c.*5152T>G (n.*5152T>G) c.*2571T>G (n.*2571T>G) c.4233T>G (p.Leu1411=) n.8060T>G c.4599T>G (p.Leu1533=) c.3876T>G (p.Leu1292=) c.2427T>G (p.Leu809=) | gnomAD v4 |
2 | g.165386824A= | CA1304563765 | SCN2A | c.4630A= (p.Asn1544=) c.*2949A= (n.*2949A=) c.*2617A= (n.*2617A=) c.*5153A= (n.*5153A=) c.*2572A= (n.*2572A=) c.4234A= (p.Asn1412=) n.8061A= c.4600A= (p.Asn1534=) c.3877A= (p.Asn1293=) c.2428A= (p.Asn810=) | |
2 | g.165386824A>C | CA349036323 | SCN2A | c.4630A>C (p.Asn1544His) c.*2949A>C (n.*2949A>C) c.*2617A>C (n.*2617A>C) c.*5153A>C (n.*5153A>C) c.*2572A>C (n.*2572A>C) c.4234A>C (p.Asn1412His) n.8061A>C c.4600A>C (p.Asn1534His) c.3877A>C (p.Asn1293His) c.2428A>C (p.Asn810His) | |
2 | g.165386824A>G | CA317994 | SCN2A | c.4630A>G (p.Asn1544Asp) c.*2949A>G (n.*2949A>G) c.*2617A>G (n.*2617A>G) c.*5153A>G (n.*5153A>G) c.*2572A>G (n.*2572A>G) c.4234A>G (p.Asn1412Asp) n.8061A>G c.4600A>G (p.Asn1534Asp) c.3877A>G (p.Asn1293Asp) c.2428A>G (p.Asn810Asp) | ClinVar dbSNP |
2 | g.165386824A>T | CA349036324 | SCN2A | c.4630A>T (p.Asn1544Tyr) c.*2949A>T (n.*2949A>T) c.*2617A>T (n.*2617A>T) c.*5153A>T (n.*5153A>T) c.*2572A>T (n.*2572A>T) c.4234A>T (p.Asn1412Tyr) n.8061A>T c.4600A>T (p.Asn1534Tyr) c.3877A>T (p.Asn1293Tyr) c.2428A>T (p.Asn810Tyr) | COSMIC COSMIC |
2 | g.165386825A>C | CA349036325 | SCN2A | c.4631A>C (p.Asn1544Thr) c.*2950A>C (n.*2950A>C) c.*2618A>C (n.*2618A>C) c.*5154A>C (n.*5154A>C) c.*2573A>C (n.*2573A>C) c.4235A>C (p.Asn1412Thr) n.8062A>C c.4601A>C (p.Asn1534Thr) c.3878A>C (p.Asn1293Thr) c.2429A>C (p.Asn810Thr) | |
2 | g.165386825A>G | CA349036327 | SCN2A | c.4631A>G (p.Asn1544Ser) c.*2950A>G (n.*2950A>G) c.*2618A>G (n.*2618A>G) c.*5154A>G (n.*5154A>G) c.*2573A>G (n.*2573A>G) c.4235A>G (p.Asn1412Ser) n.8062A>G c.4601A>G (p.Asn1534Ser) c.3878A>G (p.Asn1293Ser) c.2429A>G (p.Asn810Ser) | |
2 | g.165386825A>T | CA349036326 | SCN2A | c.4631A>T (p.Asn1544Ile) c.*2950A>T (n.*2950A>T) c.*2618A>T (n.*2618A>T) c.*5154A>T (n.*5154A>T) c.*2573A>T (n.*2573A>T) c.4235A>T (p.Asn1412Ile) n.8062A>T c.4601A>T (p.Asn1534Ile) c.3878A>T (p.Asn1293Ile) c.2429A>T (p.Asn810Ile) | |
2 | g.165386826C>A | CA349036328 | SCN2A | c.4632C>A (p.Asn1544Lys) c.*2951C>A (n.*2951C>A) c.*2619C>A (n.*2619C>A) c.*5155C>A (n.*5155C>A) c.*2574C>A (n.*2574C>A) c.4236C>A (p.Asn1412Lys) n.8063C>A c.4602C>A (p.Asn1534Lys) c.3879C>A (p.Asn1293Lys) c.2430C>A (p.Asn810Lys) | |
2 | g.165386826C>G | CA349036329 | SCN2A | c.4632C>G (p.Asn1544Lys) c.*2951C>G (n.*2951C>G) c.*2619C>G (n.*2619C>G) c.*5155C>G (n.*5155C>G) c.*2574C>G (n.*2574C>G) c.4236C>G (p.Asn1412Lys) n.8063C>G c.4602C>G (p.Asn1534Lys) c.3879C>G (p.Asn1293Lys) c.2430C>G (p.Asn810Lys) | |
2 | g.165386826C>T | CA429972539 | SCN2A | c.4632C>T (p.Asn1544=) c.*2951C>T (n.*2951C>T) c.*2619C>T (n.*2619C>T) c.*5155C>T (n.*5155C>T) c.*2574C>T (n.*2574C>T) c.4236C>T (p.Asn1412=) n.8063C>T c.4602C>T (p.Asn1534=) c.3879C>T (p.Asn1293=) c.2430C>T (p.Asn810=) | |
2 | g.165386827A= | CA1304563766 | SCN2A | c.4633A= (p.Met1545=) c.*2952A= (n.*2952A=) c.*2620A= (n.*2620A=) c.*5156A= (n.*5156A=) c.*2575A= (n.*2575A=) c.4237A= (p.Met1413=) n.8064A= c.4603A= (p.Met1535=) c.3880A= (p.Met1294=) c.2431A= (p.Met811=) | |
2 | g.165386827A>C | CA349036330 | SCN2A | c.4633A>C (p.Met1545Leu) c.*2952A>C (n.*2952A>C) c.*2620A>C (n.*2620A>C) c.*5156A>C (n.*5156A>C) c.*2575A>C (n.*2575A>C) c.4237A>C (p.Met1413Leu) n.8064A>C c.4603A>C (p.Met1535Leu) c.3880A>C (p.Met1294Leu) c.2431A>C (p.Met811Leu) | |
2 | g.165386827A>G | CA317997 | SCN2A | c.4633A>G (p.Met1545Val) c.*2952A>G (n.*2952A>G) c.*2620A>G (n.*2620A>G) c.*5156A>G (n.*5156A>G) c.*2575A>G (n.*2575A>G) c.4237A>G (p.Met1413Val) n.8064A>G c.4603A>G (p.Met1535Val) c.3880A>G (p.Met1294Val) c.2431A>G (p.Met811Val) | ClinVar dbSNP |
2 | g.165386827A>T | CA349036331 | SCN2A | c.4633A>T (p.Met1545Leu) c.*2952A>T (n.*2952A>T) c.*2620A>T (n.*2620A>T) c.*5156A>T (n.*5156A>T) c.*2575A>T (n.*2575A>T) c.4237A>T (p.Met1413Leu) n.8064A>T c.4603A>T (p.Met1535Leu) c.3880A>T (p.Met1294Leu) c.2431A>T (p.Met811Leu) | |
2 | g.165386828T>A | CA349036332 | SCN2A | c.4634T>A (p.Met1545Lys) c.*2953T>A (n.*2953T>A) c.*2621T>A (n.*2621T>A) c.*5157T>A (n.*5157T>A) c.*2576T>A (n.*2576T>A) c.4238T>A (p.Met1413Lys) n.8065T>A c.4604T>A (p.Met1535Lys) c.3881T>A (p.Met1294Lys) c.2432T>A (p.Met811Lys) | |
2 | g.165386828T>C | CA349036333 | SCN2A | c.4634T>C (p.Met1545Thr) c.*2953T>C (n.*2953T>C) c.*2621T>C (n.*2621T>C) c.*5157T>C (n.*5157T>C) c.*2576T>C (n.*2576T>C) c.4238T>C (p.Met1413Thr) n.8065T>C c.4604T>C (p.Met1535Thr) c.3881T>C (p.Met1294Thr) c.2432T>C (p.Met811Thr) | |
2 | g.165386828T>G | CA349036334 | SCN2A | c.4634T>G (p.Met1545Arg) c.*2953T>G (n.*2953T>G) c.*2621T>G (n.*2621T>G) c.*5157T>G (n.*5157T>G) c.*2576T>G (n.*2576T>G) c.4238T>G (p.Met1413Arg) n.8065T>G c.4604T>G (p.Met1535Arg) c.3881T>G (p.Met1294Arg) c.2432T>G (p.Met811Arg) | |
2 | g.165386829G>A | CA349036335 | SCN2A | c.4635G>A (p.Met1545Ile) c.*2954G>A (n.*2954G>A) c.*2622G>A (n.*2622G>A) c.*5158G>A (n.*5158G>A) c.*2577G>A (n.*2577G>A) c.4239G>A (p.Met1413Ile) n.8066G>A c.4605G>A (p.Met1535Ile) c.3882G>A (p.Met1294Ile) c.2433G>A (p.Met811Ile) | |
2 | g.165386829G>C | CA349036336 | SCN2A | c.4635G>C (p.Met1545Ile) c.*2954G>C (n.*2954G>C) c.*2622G>C (n.*2622G>C) c.*5158G>C (n.*5158G>C) c.*2577G>C (n.*2577G>C) c.4239G>C (p.Met1413Ile) n.8066G>C c.4605G>C (p.Met1535Ile) c.3882G>C (p.Met1294Ile) c.2433G>C (p.Met811Ile) | ClinVar dbSNP |
2 | g.165386829G= | CA1304563767 | SCN2A | c.4635G= (p.Met1545=) c.*2954G= (n.*2954G=) c.*2622G= (n.*2622G=) c.*5158G= (n.*5158G=) c.*2577G= (n.*2577G=) c.4239G= (p.Met1413=) n.8066G= c.4605G= (p.Met1535=) c.3882G= (p.Met1294=) c.2433G= (p.Met811=) | |
2 | g.165386829G>T | CA349036337 | SCN2A | c.4635G>T (p.Met1545Ile) c.*2954G>T (n.*2954G>T) c.*2622G>T (n.*2622G>T) c.*5158G>T (n.*5158G>T) c.*2577G>T (n.*2577G>T) c.4239G>T (p.Met1413Ile) n.8066G>T c.4605G>T (p.Met1535Ile) c.3882G>T (p.Met1294Ile) c.2433G>T (p.Met811Ile) | ClinVar dbSNP COSMIC COSMIC |
2 | g.165386830G>A | CA349036339 | SCN2A | c.4636G>A (p.Val1546Ile) c.*2955G>A (n.*2955G>A) c.*2623G>A (n.*2623G>A) c.*5159G>A (n.*5159G>A) c.*2578G>A (n.*2578G>A) c.4240G>A (p.Val1414Ile) n.8067G>A c.4606G>A (p.Val1536Ile) c.3883G>A (p.Val1295Ile) c.2434G>A (p.Val812Ile) | gnomAD v4 |
2 | g.165386830G>C | CA349036340 | SCN2A | c.4636G>C (p.Val1546Leu) c.*2955G>C (n.*2955G>C) c.*2623G>C (n.*2623G>C) c.*5159G>C (n.*5159G>C) c.*2578G>C (n.*2578G>C) c.4240G>C (p.Val1414Leu) n.8067G>C c.4606G>C (p.Val1536Leu) c.3883G>C (p.Val1295Leu) c.2434G>C (p.Val812Leu) | |
2 | g.165386830G>T | CA349036338 | SCN2A | c.4636G>T (p.Val1546Phe) c.*2955G>T (n.*2955G>T) c.*2623G>T (n.*2623G>T) c.*5159G>T (n.*5159G>T) c.*2578G>T (n.*2578G>T) c.4240G>T (p.Val1414Phe) n.8067G>T c.4606G>T (p.Val1536Phe) c.3883G>T (p.Val1295Phe) c.2434G>T (p.Val812Phe) | gnomAD v4 |
2 | g.165386831T>A | CA349036343 | SCN2A | c.4637T>A (p.Val1546Asp) c.*2956T>A (n.*2956T>A) c.*2624T>A (n.*2624T>A) c.*5160T>A (n.*5160T>A) c.*2579T>A (n.*2579T>A) c.4241T>A (p.Val1414Asp) n.8068T>A c.4607T>A (p.Val1536Asp) c.3884T>A (p.Val1295Asp) c.2435T>A (p.Val812Asp) | |
2 | g.165386831T>C | CA349036341 | SCN2A | c.4637T>C (p.Val1546Ala) c.*2956T>C (n.*2956T>C) c.*2624T>C (n.*2624T>C) c.*5160T>C (n.*5160T>C) c.*2579T>C (n.*2579T>C) c.4241T>C (p.Val1414Ala) n.8068T>C c.4607T>C (p.Val1536Ala) c.3884T>C (p.Val1295Ala) c.2435T>C (p.Val812Ala) | |
2 | g.165386831T>G | CA349036342 | SCN2A | c.4637T>G (p.Val1546Gly) c.*2956T>G (n.*2956T>G) c.*2624T>G (n.*2624T>G) c.*5160T>G (n.*5160T>G) c.*2579T>G (n.*2579T>G) c.4241T>G (p.Val1414Gly) n.8068T>G c.4607T>G (p.Val1536Gly) c.3884T>G (p.Val1295Gly) c.2435T>G (p.Val812Gly) | gnomAD v4 |
2 | g.165386832C>A | CA429972553 | SCN2A | c.4638C>A (p.Val1546=) c.*2957C>A (n.*2957C>A) c.*2625C>A (n.*2625C>A) c.*5161C>A (n.*5161C>A) c.*2580C>A (n.*2580C>A) c.4242C>A (p.Val1414=) n.8069C>A c.4608C>A (p.Val1536=) c.3885C>A (p.Val1295=) c.2436C>A (p.Val812=) | |
2 | g.165386832C>G | CA429972556 | SCN2A | c.4638C>G (p.Val1546=) c.*2957C>G (n.*2957C>G) c.*2625C>G (n.*2625C>G) c.*5161C>G (n.*5161C>G) c.*2580C>G (n.*2580C>G) c.4242C>G (p.Val1414=) n.8069C>G c.4608C>G (p.Val1536=) c.3885C>G (p.Val1295=) c.2436C>G (p.Val812=) | |
2 | g.165386832C>T | CA429972557 | SCN2A | c.4638C>T (p.Val1546=) c.*2957C>T (n.*2957C>T) c.*2625C>T (n.*2625C>T) c.*5161C>T (n.*5161C>T) c.*2580C>T (n.*2580C>T) c.4242C>T (p.Val1414=) n.8069C>T c.4608C>T (p.Val1536=) c.3885C>T (p.Val1295=) c.2436C>T (p.Val812=) | gnomAD v4 |
2 | g.165386833A>C | CA349036344 | SCN2A | c.4639A>C (p.Thr1547Pro) c.*2958A>C (n.*2958A>C) c.*2626A>C (n.*2626A>C) c.*5162A>C (n.*5162A>C) c.*2581A>C (n.*2581A>C) c.4243A>C (p.Thr1415Pro) n.8070A>C c.4609A>C (p.Thr1537Pro) c.3886A>C (p.Thr1296Pro) c.2437A>C (p.Thr813Pro) | |
2 | g.165386833A>G | CA349036345 | SCN2A | c.4639A>G (p.Thr1547Ala) c.*2958A>G (n.*2958A>G) c.*2626A>G (n.*2626A>G) c.*5162A>G (n.*5162A>G) c.*2581A>G (n.*2581A>G) c.4243A>G (p.Thr1415Ala) n.8070A>G c.4609A>G (p.Thr1537Ala) c.3886A>G (p.Thr1296Ala) c.2437A>G (p.Thr813Ala) | |
2 | g.165386833A>T | CA349036346 | SCN2A | c.4639A>T (p.Thr1547Ser) c.*2958A>T (n.*2958A>T) c.*2626A>T (n.*2626A>T) c.*5162A>T (n.*5162A>T) c.*2581A>T (n.*2581A>T) c.4243A>T (p.Thr1415Ser) n.8070A>T c.4609A>T (p.Thr1537Ser) c.3886A>T (p.Thr1296Ser) c.2437A>T (p.Thr813Ser) | |
2 | g.165386834C>A | CA349036347 | SCN2A | c.4640C>A (p.Thr1547Asn) c.*2959C>A (n.*2959C>A) c.*2627C>A (n.*2627C>A) c.*5163C>A (n.*5163C>A) c.*2582C>A (n.*2582C>A) c.4244C>A (p.Thr1415Asn) n.8071C>A c.4610C>A (p.Thr1537Asn) c.3887C>A (p.Thr1296Asn) c.2438C>A (p.Thr813Asn) | |
2 | g.165386834C>G | CA349036348 | SCN2A | c.4640C>G (p.Thr1547Ser) c.*2959C>G (n.*2959C>G) c.*2627C>G (n.*2627C>G) c.*5163C>G (n.*5163C>G) c.*2582C>G (n.*2582C>G) c.4244C>G (p.Thr1415Ser) n.8071C>G c.4610C>G (p.Thr1537Ser) c.3887C>G (p.Thr1296Ser) c.2438C>G (p.Thr813Ser) | ClinVar dbSNP |
2 | g.165386834C>T | CA349036349 | SCN2A | c.4640C>T (p.Thr1547Ile) c.*2959C>T (n.*2959C>T) c.*2627C>T (n.*2627C>T) c.*5163C>T (n.*5163C>T) c.*2582C>T (n.*2582C>T) c.4244C>T (p.Thr1415Ile) n.8071C>T c.4610C>T (p.Thr1537Ile) c.3887C>T (p.Thr1296Ile) c.2438C>T (p.Thr813Ile) | |
2 | g.165386835C>A | CA1940311 | SCN2A | c.4641C>A (p.Thr1547=) c.*2960C>A (n.*2960C>A) c.*2628C>A (n.*2628C>A) c.*5164C>A (n.*5164C>A) c.*2583C>A (n.*2583C>A) c.4245C>A (p.Thr1415=) n.8072C>A c.4611C>A (p.Thr1537=) c.3888C>A (p.Thr1296=) c.2439C>A (p.Thr813=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165386835C= | CA1304563768 | SCN2A | c.4641C= (p.Thr1547=) c.*2960C= (n.*2960C=) c.*2628C= (n.*2628C=) c.*5164C= (n.*5164C=) c.*2583C= (n.*2583C=) c.4245C= (p.Thr1415=) n.8072C= c.4611C= (p.Thr1537=) c.3888C= (p.Thr1296=) c.2439C= (p.Thr813=) | |
2 | g.165386835C>G | CA429972562 | SCN2A | c.4641C>G (p.Thr1547=) c.*2960C>G (n.*2960C>G) c.*2628C>G (n.*2628C>G) c.*5164C>G (n.*5164C>G) c.*2583C>G (n.*2583C>G) c.4245C>G (p.Thr1415=) n.8072C>G c.4611C>G (p.Thr1537=) c.3888C>G (p.Thr1296=) c.2439C>G (p.Thr813=) | |
2 | g.165386835C>T | CA429972563 | SCN2A | c.4641C>T (p.Thr1547=) c.*2960C>T (n.*2960C>T) c.*2628C>T (n.*2628C>T) c.*5164C>T (n.*5164C>T) c.*2583C>T (n.*2583C>T) c.4245C>T (p.Thr1415=) n.8072C>T c.4611C>T (p.Thr1537=) c.3888C>T (p.Thr1296=) c.2439C>T (p.Thr813=) | |
2 | g.165386836A>C | CA349036350 | SCN2A | c.4642A>C (p.Met1548Leu) c.*2961A>C (n.*2961A>C) c.*2629A>C (n.*2629A>C) c.*5165A>C (n.*5165A>C) c.*2584A>C (n.*2584A>C) c.4246A>C (p.Met1416Leu) n.8073A>C c.4612A>C (p.Met1538Leu) c.3889A>C (p.Met1297Leu) c.2440A>C (p.Met814Leu) | |
2 | g.165386836A>G | CA349036351 | SCN2A | c.4642A>G (p.Met1548Val) c.*2961A>G (n.*2961A>G) c.*2629A>G (n.*2629A>G) c.*5165A>G (n.*5165A>G) c.*2584A>G (n.*2584A>G) c.4246A>G (p.Met1416Val) n.8073A>G c.4612A>G (p.Met1538Val) c.3889A>G (p.Met1297Val) c.2440A>G (p.Met814Val) | ClinVar |
2 | g.165386836A>T | CA349036352 | SCN2A | c.4642A>T (p.Met1548Leu) c.*2961A>T (n.*2961A>T) c.*2629A>T (n.*2629A>T) c.*5165A>T (n.*5165A>T) c.*2584A>T (n.*2584A>T) c.4246A>T (p.Met1416Leu) n.8073A>T c.4612A>T (p.Met1538Leu) c.3889A>T (p.Met1297Leu) c.2440A>T (p.Met814Leu) | |
2 | g.165386837T>A | CA349036354 | SCN2A | c.4643T>A (p.Met1548Lys) c.*2962T>A (n.*2962T>A) c.*2630T>A (n.*2630T>A) c.*5166T>A (n.*5166T>A) c.*2585T>A (n.*2585T>A) c.4247T>A (p.Met1416Lys) n.8074T>A c.4613T>A (p.Met1538Lys) c.3890T>A (p.Met1297Lys) c.2441T>A (p.Met814Lys) | |
2 | g.165386837T>C | CA16044310 | SCN2A | c.4643T>C (p.Met1548Thr) c.*2962T>C (n.*2962T>C) c.*2630T>C (n.*2630T>C) c.*5166T>C (n.*5166T>C) c.*2585T>C (n.*2585T>C) c.4247T>C (p.Met1416Thr) n.8074T>C c.4613T>C (p.Met1538Thr) c.3890T>C (p.Met1297Thr) c.2441T>C (p.Met814Thr) | ClinVar dbSNP |
2 | g.165386837T>G | CA349036353 | SCN2A | c.4643T>G (p.Met1548Arg) c.*2962T>G (n.*2962T>G) c.*2630T>G (n.*2630T>G) c.*5166T>G (n.*5166T>G) c.*2585T>G (n.*2585T>G) c.4247T>G (p.Met1416Arg) n.8074T>G c.4613T>G (p.Met1538Arg) c.3890T>G (p.Met1297Arg) c.2441T>G (p.Met814Arg) | |
2 | g.165386837T= | CA1304563769 | SCN2A | c.4643T= (p.Met1548=) c.*2962T= (n.*2962T=) c.*2630T= (n.*2630T=) c.*5166T= (n.*5166T=) c.*2585T= (n.*2585T=) c.4247T= (p.Met1416=) n.8074T= c.4613T= (p.Met1538=) c.3890T= (p.Met1297=) c.2441T= (p.Met814=) | |
2 | g.165386838G>A | CA349036355 | SCN2A | c.4644G>A (p.Met1548Ile) c.*2963G>A (n.*2963G>A) c.*2631G>A (n.*2631G>A) c.*5167G>A (n.*5167G>A) c.*2586G>A (n.*2586G>A) c.4248G>A (p.Met1416Ile) n.8075G>A c.4614G>A (p.Met1538Ile) c.3891G>A (p.Met1297Ile) c.2442G>A (p.Met814Ile) | |
2 | g.165386838G>C | CA349036356 | SCN2A | c.4644G>C (p.Met1548Ile) c.*2963G>C (n.*2963G>C) c.*2631G>C (n.*2631G>C) c.*5167G>C (n.*5167G>C) c.*2586G>C (n.*2586G>C) c.4248G>C (p.Met1416Ile) n.8075G>C c.4614G>C (p.Met1538Ile) c.3891G>C (p.Met1297Ile) c.2442G>C (p.Met814Ile) | ClinVar dbSNP |
2 | g.165386838G= | CA1304563770 | SCN2A | c.4644G= (p.Met1548=) c.*2963G= (n.*2963G=) c.*2631G= (n.*2631G=) c.*5167G= (n.*5167G=) c.*2586G= (n.*2586G=) c.4248G= (p.Met1416=) n.8075G= c.4614G= (p.Met1538=) c.3891G= (p.Met1297=) c.2442G= (p.Met814=) | |
2 | g.165386838G>T | CA349036357 | SCN2A | c.4644G>T (p.Met1548Ile) c.*2963G>T (n.*2963G>T) c.*2631G>T (n.*2631G>T) c.*5167G>T (n.*5167G>T) c.*2586G>T (n.*2586G>T) c.4248G>T (p.Met1416Ile) n.8075G>T c.4614G>T (p.Met1538Ile) c.3891G>T (p.Met1297Ile) c.2442G>T (p.Met814Ile) | |
2 | g.165386839A>C | CA349036358 | SCN2A | c.4645A>C (p.Met1549Leu) c.*2964A>C (n.*2964A>C) c.*2632A>C (n.*2632A>C) c.*5168A>C (n.*5168A>C) c.*2587A>C (n.*2587A>C) c.4249A>C (p.Met1417Leu) n.8076A>C c.4615A>C (p.Met1539Leu) c.3892A>C (p.Met1298Leu) c.2443A>C (p.Met815Leu) | |
2 | g.165386839A>G | CA349036359 | SCN2A | c.4645A>G (p.Met1549Val) c.*2964A>G (n.*2964A>G) c.*2632A>G (n.*2632A>G) c.*5168A>G (n.*5168A>G) c.*2587A>G (n.*2587A>G) c.4249A>G (p.Met1417Val) n.8076A>G c.4615A>G (p.Met1539Val) c.3892A>G (p.Met1298Val) c.2443A>G (p.Met815Val) | |
2 | g.165386839A>T | CA349036360 | SCN2A | c.4645A>T (p.Met1549Leu) c.*2964A>T (n.*2964A>T) c.*2632A>T (n.*2632A>T) c.*5168A>T (n.*5168A>T) c.*2587A>T (n.*2587A>T) c.4249A>T (p.Met1417Leu) n.8076A>T c.4615A>T (p.Met1539Leu) c.3892A>T (p.Met1298Leu) c.2443A>T (p.Met815Leu) | |
2 | g.165386840T>A | CA349036361 | SCN2A | c.4646T>A (p.Met1549Lys) c.*2965T>A (n.*2965T>A) c.*2633T>A (n.*2633T>A) c.*5169T>A (n.*5169T>A) c.*2588T>A (n.*2588T>A) c.4250T>A (p.Met1417Lys) n.8077T>A c.4616T>A (p.Met1539Lys) c.3893T>A (p.Met1298Lys) c.2444T>A (p.Met815Lys) | |
2 | g.165386840T>C | CA349036362 | SCN2A | c.4646T>C (p.Met1549Thr) c.*2965T>C (n.*2965T>C) c.*2633T>C (n.*2633T>C) c.*5169T>C (n.*5169T>C) c.*2588T>C (n.*2588T>C) c.4250T>C (p.Met1417Thr) n.8077T>C c.4616T>C (p.Met1539Thr) c.3893T>C (p.Met1298Thr) c.2444T>C (p.Met815Thr) | |
2 | g.165386840T>G | CA349036363 | SCN2A | c.4646T>G (p.Met1549Arg) c.*2965T>G (n.*2965T>G) c.*2633T>G (n.*2633T>G) c.*5169T>G (n.*5169T>G) c.*2588T>G (n.*2588T>G) c.4250T>G (p.Met1417Arg) n.8077T>G c.4616T>G (p.Met1539Arg) c.3893T>G (p.Met1298Arg) c.2444T>G (p.Met815Arg) | |
2 | g.165386841G>A | CA349036364 | SCN2A | c.4647G>A (p.Met1549Ile) c.*2966G>A (n.*2966G>A) c.*2634G>A (n.*2634G>A) c.*5170G>A (n.*5170G>A) c.*2589G>A (n.*2589G>A) c.4251G>A (p.Met1417Ile) n.8078G>A c.4617G>A (p.Met1539Ile) c.3894G>A (p.Met1298Ile) c.2445G>A (p.Met815Ile) | |
2 | g.165386841G>C | CA349036365 | SCN2A | c.4647G>C (p.Met1549Ile) c.*2966G>C (n.*2966G>C) c.*2634G>C (n.*2634G>C) c.*5170G>C (n.*5170G>C) c.*2589G>C (n.*2589G>C) c.4251G>C (p.Met1417Ile) n.8078G>C c.4617G>C (p.Met1539Ile) c.3894G>C (p.Met1298Ile) c.2445G>C (p.Met815Ile) | |
2 | g.165386841G= | CA1304563771 | SCN2A | c.4647G= (p.Met1549=) c.*2966G= (n.*2966G=) c.*2634G= (n.*2634G=) c.*5170G= (n.*5170G=) c.*2589G= (n.*2589G=) c.4251G= (p.Met1417=) n.8078G= c.4617G= (p.Met1539=) c.3894G= (p.Met1298=) c.2445G= (p.Met815=) | |
2 | g.165386841G>T | CA59750954 | SCN2A | c.4647G>T (p.Met1549Ile) c.*2966G>T (n.*2966G>T) c.*2634G>T (n.*2634G>T) c.*5170G>T (n.*5170G>T) c.*2589G>T (n.*2589G>T) c.4251G>T (p.Met1417Ile) n.8078G>T c.4617G>T (p.Met1539Ile) c.3894G>T (p.Met1298Ile) c.2445G>T (p.Met815Ile) | dbSNP |
2 | g.165386842del | CA2580064470 | SCN2A | c.4648del (p.Val1550TrpfsTer10) c.*2967del (n.*2967del) c.*2635del (n.*2635del) c.*5171del (n.*5171del) c.*2590del (n.*2590del) c.4252del (p.Val1418TrpfsTer10) n.8079del c.4618del (p.Val1540TrpfsTer10) c.3895del (p.Val1299TrpfsTer10) c.2446del (p.Val816TrpfsTer10) | ClinVar |
2 | g.165386842G>A | CA349036367 | SCN2A | c.4648G>A (p.Val1550Met) c.*2967G>A (n.*2967G>A) c.*2635G>A (n.*2635G>A) c.*5171G>A (n.*5171G>A) c.*2590G>A (n.*2590G>A) c.4252G>A (p.Val1418Met) n.8079G>A c.4618G>A (p.Val1540Met) c.3895G>A (p.Val1299Met) c.2446G>A (p.Val816Met) | |
2 | g.165386842G>C | CA349036368 | SCN2A | c.4648G>C (p.Val1550Leu) c.*2967G>C (n.*2967G>C) c.*2635G>C (n.*2635G>C) c.*5171G>C (n.*5171G>C) c.*2590G>C (n.*2590G>C) c.4252G>C (p.Val1418Leu) n.8079G>C c.4618G>C (p.Val1540Leu) c.3895G>C (p.Val1299Leu) c.2446G>C (p.Val816Leu) | |
2 | g.165386842G>T | CA349036366 | SCN2A | c.4648G>T (p.Val1550Leu) c.*2967G>T (n.*2967G>T) c.*2635G>T (n.*2635G>T) c.*5171G>T (n.*5171G>T) c.*2590G>T (n.*2590G>T) c.4252G>T (p.Val1418Leu) n.8079G>T c.4618G>T (p.Val1540Leu) c.3895G>T (p.Val1299Leu) c.2446G>T (p.Val816Leu) | |
2 | g.165386843T>A | CA349036369 | SCN2A | c.4649T>A (p.Val1550Glu) c.*2968T>A (n.*2968T>A) c.*2636T>A (n.*2636T>A) c.*5172T>A (n.*5172T>A) c.*2591T>A (n.*2591T>A) c.4253T>A (p.Val1418Glu) n.8080T>A c.4619T>A (p.Val1540Glu) c.3896T>A (p.Val1299Glu) c.2447T>A (p.Val816Glu) | |
2 | g.165386843T>C | CA349036370 | SCN2A | c.4649T>C (p.Val1550Ala) c.*2968T>C (n.*2968T>C) c.*2636T>C (n.*2636T>C) c.*5172T>C (n.*5172T>C) c.*2591T>C (n.*2591T>C) c.4253T>C (p.Val1418Ala) n.8080T>C c.4619T>C (p.Val1540Ala) c.3896T>C (p.Val1299Ala) c.2447T>C (p.Val816Ala) | |
2 | g.165386843T>G | CA349036371 | SCN2A | c.4649T>G (p.Val1550Gly) c.*2968T>G (n.*2968T>G) c.*2636T>G (n.*2636T>G) c.*5172T>G (n.*5172T>G) c.*2591T>G (n.*2591T>G) c.4253T>G (p.Val1418Gly) n.8080T>G c.4619T>G (p.Val1540Gly) c.3896T>G (p.Val1299Gly) c.2447T>G (p.Val816Gly) | |
2 | g.165386844G>A | CA429972583 | SCN2A | c.4650G>A (p.Val1550=) c.*2969G>A (n.*2969G>A) c.*2637G>A (n.*2637G>A) c.*5173G>A (n.*5173G>A) c.*2592G>A (n.*2592G>A) c.4254G>A (p.Val1418=) n.8081G>A c.4620G>A (p.Val1540=) c.3897G>A (p.Val1299=) c.2448G>A (p.Val816=) | gnomAD v4 |
2 | g.165386844G>C | CA429972586 | SCN2A | c.4650G>C (p.Val1550=) c.*2969G>C (n.*2969G>C) c.*2637G>C (n.*2637G>C) c.*5173G>C (n.*5173G>C) c.*2592G>C (n.*2592G>C) c.4254G>C (p.Val1418=) n.8081G>C c.4620G>C (p.Val1540=) c.3897G>C (p.Val1299=) c.2448G>C (p.Val816=) | |
2 | g.165386844G>T | CA429972588 | SCN2A | c.4650G>T (p.Val1550=) c.*2969G>T (n.*2969G>T) c.*2637G>T (n.*2637G>T) c.*5173G>T (n.*5173G>T) c.*2592G>T (n.*2592G>T) c.4254G>T (p.Val1418=) n.8081G>T c.4620G>T (p.Val1540=) c.3897G>T (p.Val1299=) c.2448G>T (p.Val816=) | |
2 | g.165386845G>A | CA349036372 | SCN2A | c.4651G>A (p.Glu1551Lys) c.*2970G>A (n.*2970G>A) c.*2638G>A (n.*2638G>A) c.*5174G>A (n.*5174G>A) c.*2593G>A (n.*2593G>A) c.4255G>A (p.Glu1419Lys) n.8082G>A c.4621G>A (p.Glu1541Lys) c.3898G>A (p.Glu1300Lys) c.2449G>A (p.Glu817Lys) | |
2 | g.165386845G>C | CA349036373 | SCN2A | c.4651G>C (p.Glu1551Gln) c.*2970G>C (n.*2970G>C) c.*2638G>C (n.*2638G>C) c.*5174G>C (n.*5174G>C) c.*2593G>C (n.*2593G>C) c.4255G>C (p.Glu1419Gln) n.8082G>C c.4621G>C (p.Glu1541Gln) c.3898G>C (p.Glu1300Gln) c.2449G>C (p.Glu817Gln) | |
2 | g.165386845G= | CA1304563772 | SCN2A | c.4651G= (p.Glu1551=) c.*2970G= (n.*2970G=) c.*2638G= (n.*2638G=) c.*5174G= (n.*5174G=) c.*2593G= (n.*2593G=) c.4255G= (p.Glu1419=) n.8082G= c.4621G= (p.Glu1541=) c.3898G= (p.Glu1300=) c.2449G= (p.Glu817=) | |
2 | g.165386845G>T | CA349036374 | SCN2A | c.4651G>T (p.Glu1551Ter) c.*2970G>T (n.*2970G>T) c.*2638G>T (n.*2638G>T) c.*5174G>T (n.*5174G>T) c.*2593G>T (n.*2593G>T) c.4255G>T (p.Glu1419Ter) n.8082G>T c.4621G>T (p.Glu1541Ter) c.3898G>T (p.Glu1300Ter) c.2449G>T (p.Glu817Ter) | dbSNP |
2 | g.165386846A>C | CA349036375 | SCN2A | c.4652A>C (p.Glu1551Ala) c.*2971A>C (n.*2971A>C) c.*2639A>C (n.*2639A>C) c.*5175A>C (n.*5175A>C) c.*2594A>C (n.*2594A>C) c.4256A>C (p.Glu1419Ala) n.8083A>C c.4622A>C (p.Glu1541Ala) c.3899A>C (p.Glu1300Ala) c.2450A>C (p.Glu817Ala) | ClinVar |
2 | g.165386846A>G | CA349036376 | SCN2A | c.4652A>G (p.Glu1551Gly) c.*2971A>G (n.*2971A>G) c.*2639A>G (n.*2639A>G) c.*5175A>G (n.*5175A>G) c.*2594A>G (n.*2594A>G) c.4256A>G (p.Glu1419Gly) n.8083A>G c.4622A>G (p.Glu1541Gly) c.3899A>G (p.Glu1300Gly) c.2450A>G (p.Glu817Gly) | |
2 | g.165386846A>T | CA349036377 | SCN2A | c.4652A>T (p.Glu1551Val) c.*2971A>T (n.*2971A>T) c.*2639A>T (n.*2639A>T) c.*5175A>T (n.*5175A>T) c.*2594A>T (n.*2594A>T) c.4256A>T (p.Glu1419Val) n.8083A>T c.4622A>T (p.Glu1541Val) c.3899A>T (p.Glu1300Val) c.2450A>T (p.Glu817Val) | |
2 | g.165386847A>C | CA349036378 | SCN2A | c.4653A>C (p.Glu1551Asp) c.*2972A>C (n.*2972A>C) c.*2640A>C (n.*2640A>C) c.*5176A>C (n.*5176A>C) c.*2595A>C (n.*2595A>C) c.4257A>C (p.Glu1419Asp) n.8084A>C c.4623A>C (p.Glu1541Asp) c.3900A>C (p.Glu1300Asp) c.2451A>C (p.Glu817Asp) | |
2 | g.165386847A>G | CA429972594 | SCN2A | c.4653A>G (p.Glu1551=) c.*2972A>G (n.*2972A>G) c.*2640A>G (n.*2640A>G) c.*5176A>G (n.*5176A>G) c.*2595A>G (n.*2595A>G) c.4257A>G (p.Glu1419=) n.8084A>G c.4623A>G (p.Glu1541=) c.3900A>G (p.Glu1300=) c.2451A>G (p.Glu817=) | |
2 | g.165386847A>T | CA349036379 | SCN2A | c.4653A>T (p.Glu1551Asp) c.*2972A>T (n.*2972A>T) c.*2640A>T (n.*2640A>T) c.*5176A>T (n.*5176A>T) c.*2595A>T (n.*2595A>T) c.4257A>T (p.Glu1419Asp) n.8084A>T c.4623A>T (p.Glu1541Asp) c.3900A>T (p.Glu1300Asp) c.2451A>T (p.Glu817Asp) | |
2 | g.165386848A>C | CA349036380 | SCN2A | c.4654A>C (p.Thr1552Pro) c.*2973A>C (n.*2973A>C) c.*2641A>C (n.*2641A>C) c.*5177A>C (n.*5177A>C) c.*2596A>C (n.*2596A>C) c.4258A>C (p.Thr1420Pro) n.8085A>C c.4624A>C (p.Thr1542Pro) c.3901A>C (p.Thr1301Pro) c.2452A>C (p.Thr818Pro) | |
2 | g.165386848A>G | CA349036382 | SCN2A | c.4654A>G (p.Thr1552Ala) c.*2973A>G (n.*2973A>G) c.*2641A>G (n.*2641A>G) c.*5177A>G (n.*5177A>G) c.*2596A>G (n.*2596A>G) c.4258A>G (p.Thr1420Ala) n.8085A>G c.4624A>G (p.Thr1542Ala) c.3901A>G (p.Thr1301Ala) c.2452A>G (p.Thr818Ala) | ClinVar |
2 | g.165386848A>T | CA349036383 | SCN2A | c.4654A>T (p.Thr1552Ser) c.*2973A>T (n.*2973A>T) c.*2641A>T (n.*2641A>T) c.*5177A>T (n.*5177A>T) c.*2596A>T (n.*2596A>T) c.4258A>T (p.Thr1420Ser) n.8085A>T c.4624A>T (p.Thr1542Ser) c.3901A>T (p.Thr1301Ser) c.2452A>T (p.Thr818Ser) | |
2 | g.165386849C>A | CA349036388 | SCN2A | c.4655C>A (p.Thr1552Asn) c.*2974C>A (n.*2974C>A) c.*2642C>A (n.*2642C>A) c.*5178C>A (n.*5178C>A) c.*2597C>A (n.*2597C>A) c.4259C>A (p.Thr1420Asn) n.8086C>A c.4625C>A (p.Thr1542Asn) c.3902C>A (p.Thr1301Asn) c.2453C>A (p.Thr818Asn) | |
2 | g.165386849C>G | CA349036386 | SCN2A | c.4655C>G (p.Thr1552Ser) c.*2974C>G (n.*2974C>G) c.*2642C>G (n.*2642C>G) c.*5178C>G (n.*5178C>G) c.*2597C>G (n.*2597C>G) c.4259C>G (p.Thr1420Ser) n.8086C>G c.4625C>G (p.Thr1542Ser) c.3902C>G (p.Thr1301Ser) c.2453C>G (p.Thr818Ser) | |
2 | g.165386849C>T | CA349036385 | SCN2A | c.4655C>T (p.Thr1552Ile) c.*2974C>T (n.*2974C>T) c.*2642C>T (n.*2642C>T) c.*5178C>T (n.*5178C>T) c.*2597C>T (n.*2597C>T) c.4259C>T (p.Thr1420Ile) n.8086C>T c.4625C>T (p.Thr1542Ile) c.3902C>T (p.Thr1301Ile) c.2453C>T (p.Thr818Ile) | ClinVar |
2 | g.165386850C>A | CA429972599 | SCN2A | c.4656C>A (p.Thr1552=) c.*2975C>A (n.*2975C>A) c.*2643C>A (n.*2643C>A) c.*5179C>A (n.*5179C>A) c.*2598C>A (n.*2598C>A) c.4260C>A (p.Thr1420=) n.8087C>A c.4626C>A (p.Thr1542=) c.3903C>A (p.Thr1301=) c.2454C>A (p.Thr818=) | gnomAD v4 COSMIC COSMIC |
2 | g.165386850C= | CA1304563773 | SCN2A | c.4656C= (p.Thr1552=) c.*2975C= (n.*2975C=) c.*2643C= (n.*2643C=) c.*5179C= (n.*5179C=) c.*2598C= (n.*2598C=) c.4260C= (p.Thr1420=) n.8087C= c.4626C= (p.Thr1542=) c.3903C= (p.Thr1301=) c.2454C= (p.Thr818=) | |
2 | g.165386850C>G | CA1940312 | SCN2A | c.4656C>G (p.Thr1552=) c.*2975C>G (n.*2975C>G) c.*2643C>G (n.*2643C>G) c.*5179C>G (n.*5179C>G) c.*2598C>G (n.*2598C>G) c.4260C>G (p.Thr1420=) n.8087C>G c.4626C>G (p.Thr1542=) c.3903C>G (p.Thr1301=) c.2454C>G (p.Thr818=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165386850C>T | CA1940313 | SCN2A | c.4656C>T (p.Thr1552=) c.*2975C>T (n.*2975C>T) c.*2643C>T (n.*2643C>T) c.*5179C>T (n.*5179C>T) c.*2598C>T (n.*2598C>T) c.4260C>T (p.Thr1420=) n.8087C>T c.4626C>T (p.Thr1542=) c.3903C>T (p.Thr1301=) c.2454C>T (p.Thr818=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165386851G>A | CA59750986 | SCN2A | c.4657G>A (p.Asp1553Asn) c.*2976G>A (n.*2976G>A) c.*2644G>A (n.*2644G>A) c.*5180G>A (n.*5180G>A) c.*2599G>A (n.*2599G>A) c.4261G>A (p.Asp1421Asn) n.8088G>A c.4627G>A (p.Asp1543Asn) c.3904G>A (p.Asp1302Asn) c.2455G>A (p.Asp819Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.165386851G>C | CA349036391 | SCN2A | c.4657G>C (p.Asp1553His) c.*2976G>C (n.*2976G>C) c.*2644G>C (n.*2644G>C) c.*5180G>C (n.*5180G>C) c.*2599G>C (n.*2599G>C) c.4261G>C (p.Asp1421His) n.8088G>C c.4627G>C (p.Asp1543His) c.3904G>C (p.Asp1302His) c.2455G>C (p.Asp819His) | |
2 | g.165386851G= | CA1304563774 | SCN2A | c.4657G= (p.Asp1553=) c.*2976G= (n.*2976G=) c.*2644G= (n.*2644G=) c.*5180G= (n.*5180G=) c.*2599G= (n.*2599G=) c.4261G= (p.Asp1421=) n.8088G= c.4627G= (p.Asp1543=) c.3904G= (p.Asp1302=) c.2455G= (p.Asp819=) | |
2 | g.165386851G>T | CA349036392 | SCN2A | c.4657G>T (p.Asp1553Tyr) c.*2976G>T (n.*2976G>T) c.*2644G>T (n.*2644G>T) c.*5180G>T (n.*5180G>T) c.*2599G>T (n.*2599G>T) c.4261G>T (p.Asp1421Tyr) n.8088G>T c.4627G>T (p.Asp1543Tyr) c.3904G>T (p.Asp1302Tyr) c.2455G>T (p.Asp819Tyr) | |
2 | g.165386852A>C | CA349036394 | SCN2A | c.4658A>C (p.Asp1553Ala) c.*2977A>C (n.*2977A>C) c.*2645A>C (n.*2645A>C) c.*5181A>C (n.*5181A>C) c.*2600A>C (n.*2600A>C) c.4262A>C (p.Asp1421Ala) n.8089A>C c.4628A>C (p.Asp1543Ala) c.3905A>C (p.Asp1302Ala) c.2456A>C (p.Asp819Ala) | |
2 | g.165386852A>G | CA349036395 | SCN2A | c.4658A>G (p.Asp1553Gly) c.*2977A>G (n.*2977A>G) c.*2645A>G (n.*2645A>G) c.*5181A>G (n.*5181A>G) c.*2600A>G (n.*2600A>G) c.4262A>G (p.Asp1421Gly) n.8089A>G c.4628A>G (p.Asp1543Gly) c.3905A>G (p.Asp1302Gly) c.2456A>G (p.Asp819Gly) | |
2 | g.165386852A>T | CA349036396 | SCN2A | c.4658A>T (p.Asp1553Val) c.*2977A>T (n.*2977A>T) c.*2645A>T (n.*2645A>T) c.*5181A>T (n.*5181A>T) c.*2600A>T (n.*2600A>T) c.4262A>T (p.Asp1421Val) n.8089A>T c.4628A>T (p.Asp1543Val) c.3905A>T (p.Asp1302Val) c.2456A>T (p.Asp819Val) | |
2 | g.165386853T>A | CA349036398 | SCN2A | c.4659T>A (p.Asp1553Glu) c.*2978T>A (n.*2978T>A) c.*2646T>A (n.*2646T>A) c.*5182T>A (n.*5182T>A) c.*2601T>A (n.*2601T>A) c.4263T>A (p.Asp1421Glu) n.8090T>A c.4629T>A (p.Asp1543Glu) c.3906T>A (p.Asp1302Glu) c.2457T>A (p.Asp819Glu) | gnomAD v4 |
2 | g.165386853T>C | CA429972606 | SCN2A | c.4659T>C (p.Asp1553=) c.*2978T>C (n.*2978T>C) c.*2646T>C (n.*2646T>C) c.*5182T>C (n.*5182T>C) c.*2601T>C (n.*2601T>C) c.4263T>C (p.Asp1421=) n.8090T>C c.4629T>C (p.Asp1543=) c.3906T>C (p.Asp1302=) c.2457T>C (p.Asp819=) | ClinVar gnomAD v4 |
2 | g.165386853T>G | CA349036400 | SCN2A | c.4659T>G (p.Asp1553Glu) c.*2978T>G (n.*2978T>G) c.*2646T>G (n.*2646T>G) c.*5182T>G (n.*5182T>G) c.*2601T>G (n.*2601T>G) c.4263T>G (p.Asp1421Glu) n.8090T>G c.4629T>G (p.Asp1543Glu) c.3906T>G (p.Asp1302Glu) c.2457T>G (p.Asp819Glu) | |
2 | g.165386854G>A | CA349036402 | SCN2A | c.4660G>A (p.Asp1554Asn) c.*2979G>A (n.*2979G>A) c.*2647G>A (n.*2647G>A) c.*5183G>A (n.*5183G>A) c.*2602G>A (n.*2602G>A) c.4264G>A (p.Asp1422Asn) n.8091G>A c.4630G>A (p.Asp1544Asn) c.3907G>A (p.Asp1303Asn) c.2458G>A (p.Asp820Asn) | |
2 | g.165386854G>C | CA349036403 | SCN2A | c.4660G>C (p.Asp1554His) c.*2979G>C (n.*2979G>C) c.*2647G>C (n.*2647G>C) c.*5183G>C (n.*5183G>C) c.*2602G>C (n.*2602G>C) c.4264G>C (p.Asp1422His) n.8091G>C c.4630G>C (p.Asp1544His) c.3907G>C (p.Asp1303His) c.2458G>C (p.Asp820His) | |
2 | g.165386854G>T | CA349036405 | SCN2A | c.4660G>T (p.Asp1554Tyr) c.*2979G>T (n.*2979G>T) c.*2647G>T (n.*2647G>T) c.*5183G>T (n.*5183G>T) c.*2602G>T (n.*2602G>T) c.4264G>T (p.Asp1422Tyr) n.8091G>T c.4630G>T (p.Asp1544Tyr) c.3907G>T (p.Asp1303Tyr) c.2458G>T (p.Asp820Tyr) | ClinVar |
2 | g.165386855A= | CA1304563775 | SCN2A | c.4661A= (p.Asp1554=) c.*2980A= (n.*2980A=) c.*2648A= (n.*2648A=) c.*5184A= (n.*5184A=) c.*2603A= (n.*2603A=) c.4265A= (p.Asp1422=) n.8092A= c.4631A= (p.Asp1544=) c.3908A= (p.Asp1303=) c.2459A= (p.Asp820=) | |
2 | g.165386855A>C | CA349036406 | SCN2A | c.4661A>C (p.Asp1554Ala) c.*2980A>C (n.*2980A>C) c.*2648A>C (n.*2648A>C) c.*5184A>C (n.*5184A>C) c.*2603A>C (n.*2603A>C) c.4265A>C (p.Asp1422Ala) n.8092A>C c.4631A>C (p.Asp1544Ala) c.3908A>C (p.Asp1303Ala) c.2459A>C (p.Asp820Ala) | |
2 | g.165386855A>G | CA318196 | SCN2A | c.4661A>G (p.Asp1554Gly) c.*2980A>G (n.*2980A>G) c.*2648A>G (n.*2648A>G) c.*5184A>G (n.*5184A>G) c.*2603A>G (n.*2603A>G) c.4265A>G (p.Asp1422Gly) n.8092A>G c.4631A>G (p.Asp1544Gly) c.3908A>G (p.Asp1303Gly) c.2459A>G (p.Asp820Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.165386855A>T | CA349036407 | SCN2A | c.4661A>T (p.Asp1554Val) c.*2980A>T (n.*2980A>T) c.*2648A>T (n.*2648A>T) c.*5184A>T (n.*5184A>T) c.*2603A>T (n.*2603A>T) c.4265A>T (p.Asp1422Val) n.8092A>T c.4631A>T (p.Asp1544Val) c.3908A>T (p.Asp1303Val) c.2459A>T (p.Asp820Val) | |
2 | g.165386856C>A | CA349036409 | SCN2A | c.4662C>A (p.Asp1554Glu) c.*2981C>A (n.*2981C>A) c.*2649C>A (n.*2649C>A) c.*5185C>A (n.*5185C>A) c.*2604C>A (n.*2604C>A) c.4266C>A (p.Asp1422Glu) n.8093C>A c.4632C>A (p.Asp1544Glu) c.3909C>A (p.Asp1303Glu) c.2460C>A (p.Asp820Glu) | |
2 | g.165386856C>G | CA349036411 | SCN2A | c.4662C>G (p.Asp1554Glu) c.*2981C>G (n.*2981C>G) c.*2649C>G (n.*2649C>G) c.*5185C>G (n.*5185C>G) c.*2604C>G (n.*2604C>G) c.4266C>G (p.Asp1422Glu) n.8093C>G c.4632C>G (p.Asp1544Glu) c.3909C>G (p.Asp1303Glu) c.2460C>G (p.Asp820Glu) | |
2 | g.165386856C>T | CA429972611 | SCN2A | c.4662C>T (p.Asp1554=) c.*2981C>T (n.*2981C>T) c.*2649C>T (n.*2649C>T) c.*5185C>T (n.*5185C>T) c.*2604C>T (n.*2604C>T) c.4266C>T (p.Asp1422=) n.8093C>T c.4632C>T (p.Asp1544=) c.3909C>T (p.Asp1303=) c.2460C>T (p.Asp820=) | gnomAD v4 |
2 | g.165386857C>A | CA349036412 | SCN2A | c.4663C>A (p.Gln1555Lys) c.*2982C>A (n.*2982C>A) c.*2650C>A (n.*2650C>A) c.*5186C>A (n.*5186C>A) c.*2605C>A (n.*2605C>A) c.4267C>A (p.Gln1423Lys) n.8094C>A c.4633C>A (p.Gln1545Lys) c.3910C>A (p.Gln1304Lys) c.2461C>A (p.Gln821Lys) | |
2 | g.165386857C= | CA1304563776 | SCN2A | c.4663C= (p.Gln1555=) c.*2982C= (n.*2982C=) c.*2650C= (n.*2650C=) c.*5186C= (n.*5186C=) c.*2605C= (n.*2605C=) c.4267C= (p.Gln1423=) n.8094C= c.4633C= (p.Gln1545=) c.3910C= (p.Gln1304=) c.2461C= (p.Gln821=) | |
2 | g.165386857C>G | CA349036416 | SCN2A | c.4663C>G (p.Gln1555Glu) c.*2982C>G (n.*2982C>G) c.*2650C>G (n.*2650C>G) c.*5186C>G (n.*5186C>G) c.*2605C>G (n.*2605C>G) c.4267C>G (p.Gln1423Glu) n.8094C>G c.4633C>G (p.Gln1545Glu) c.3910C>G (p.Gln1304Glu) c.2461C>G (p.Gln821Glu) | |
2 | g.165386857C>T | CA349036414 | SCN2A | c.4663C>T (p.Gln1555Ter) c.*2982C>T (n.*2982C>T) c.*2650C>T (n.*2650C>T) c.*5186C>T (n.*5186C>T) c.*2605C>T (n.*2605C>T) c.4267C>T (p.Gln1423Ter) n.8094C>T c.4633C>T (p.Gln1545Ter) c.3910C>T (p.Gln1304Ter) c.2461C>T (p.Gln821Ter) | dbSNP |
2 | g.165386858A>C | CA349036418 | SCN2A | c.4664A>C (p.Gln1555Pro) c.*2983A>C (n.*2983A>C) c.*2651A>C (n.*2651A>C) c.*5187A>C (n.*5187A>C) c.*2606A>C (n.*2606A>C) c.4268A>C (p.Gln1423Pro) n.8095A>C c.4634A>C (p.Gln1545Pro) c.3911A>C (p.Gln1304Pro) c.2462A>C (p.Gln821Pro) | |
2 | g.165386858A>G | CA349036421 | SCN2A | c.4664A>G (p.Gln1555Arg) c.*2983A>G (n.*2983A>G) c.*2651A>G (n.*2651A>G) c.*5187A>G (n.*5187A>G) c.*2606A>G (n.*2606A>G) c.4268A>G (p.Gln1423Arg) n.8095A>G c.4634A>G (p.Gln1545Arg) c.3911A>G (p.Gln1304Arg) c.2462A>G (p.Gln821Arg) | |
2 | g.165386858A>T | CA349036420 | SCN2A | c.4664A>T (p.Gln1555Leu) c.*2983A>T (n.*2983A>T) c.*2651A>T (n.*2651A>T) c.*5187A>T (n.*5187A>T) c.*2606A>T (n.*2606A>T) c.4268A>T (p.Gln1423Leu) n.8095A>T c.4634A>T (p.Gln1545Leu) c.3911A>T (p.Gln1304Leu) c.2462A>T (p.Gln821Leu) | |
2 | g.165386859G>A | CA429972613 | SCN2A | c.4665G>A (p.Gln1555=) c.*2984G>A (n.*2984G>A) c.*2652G>A (n.*2652G>A) c.*5188G>A (n.*5188G>A) c.*2607G>A (n.*2607G>A) c.4269G>A (p.Gln1423=) n.8096G>A c.4635G>A (p.Gln1545=) c.3912G>A (p.Gln1304=) c.2463G>A (p.Gln821=) | |
2 | g.165386859G>C | CA349036423 | SCN2A | c.4665G>C (p.Gln1555His) c.*2984G>C (n.*2984G>C) c.*2652G>C (n.*2652G>C) c.*5188G>C (n.*5188G>C) c.*2607G>C (n.*2607G>C) c.4269G>C (p.Gln1423His) n.8096G>C c.4635G>C (p.Gln1545His) c.3912G>C (p.Gln1304His) c.2463G>C (p.Gln821His) | ClinVar dbSNP |
2 | g.165386859G= | CA1304563777 | SCN2A | c.4665G= (p.Gln1555=) c.*2984G= (n.*2984G=) c.*2652G= (n.*2652G=) c.*5188G= (n.*5188G=) c.*2607G= (n.*2607G=) c.4269G= (p.Gln1423=) n.8096G= c.4635G= (p.Gln1545=) c.3912G= (p.Gln1304=) c.2463G= (p.Gln821=) | |
2 | g.165386859G>T | CA349036424 | SCN2A | c.4665G>T (p.Gln1555His) c.*2984G>T (n.*2984G>T) c.*2652G>T (n.*2652G>T) c.*5188G>T (n.*5188G>T) c.*2607G>T (n.*2607G>T) c.4269G>T (p.Gln1423His) n.8096G>T c.4635G>T (p.Gln1545His) c.3912G>T (p.Gln1304His) c.2463G>T (p.Gln821His) | |
2 | g.165386860A>C | CA349036425 | SCN2A | c.4666A>C (p.Ser1556Arg) c.*2985A>C (n.*2985A>C) c.*2653A>C (n.*2653A>C) c.*5189A>C (n.*5189A>C) c.*2608A>C (n.*2608A>C) c.4270A>C (p.Ser1424Arg) n.8097A>C c.4636A>C (p.Ser1546Arg) c.3913A>C (p.Ser1305Arg) c.2464A>C (p.Ser822Arg) | |
2 | g.165386860A>G | CA349036427 | SCN2A | c.4666A>G (p.Ser1556Gly) c.*2985A>G (n.*2985A>G) c.*2653A>G (n.*2653A>G) c.*5189A>G (n.*5189A>G) c.*2608A>G (n.*2608A>G) c.4270A>G (p.Ser1424Gly) n.8097A>G c.4636A>G (p.Ser1546Gly) c.3913A>G (p.Ser1305Gly) c.2464A>G (p.Ser822Gly) | |
2 | g.165386860A>T | CA349036428 | SCN2A | c.4666A>T (p.Ser1556Cys) c.*2985A>T (n.*2985A>T) c.*2653A>T (n.*2653A>T) c.*5189A>T (n.*5189A>T) c.*2608A>T (n.*2608A>T) c.4270A>T (p.Ser1424Cys) n.8097A>T c.4636A>T (p.Ser1546Cys) c.3913A>T (p.Ser1305Cys) c.2464A>T (p.Ser822Cys) | |
2 | g.165386861G>A | CA349036430 | SCN2A | c.4667G>A (p.Ser1556Asn) c.*2986G>A (n.*2986G>A) c.*2654G>A (n.*2654G>A) c.*5190G>A (n.*5190G>A) c.*2609G>A (n.*2609G>A) c.4271G>A (p.Ser1424Asn) n.8098G>A c.4637G>A (p.Ser1546Asn) c.3914G>A (p.Ser1305Asn) c.2465G>A (p.Ser822Asn) | |
2 | g.165386861G>C | CA349036432 | SCN2A | c.4667G>C (p.Ser1556Thr) c.*2986G>C (n.*2986G>C) c.*2654G>C (n.*2654G>C) c.*5190G>C (n.*5190G>C) c.*2609G>C (n.*2609G>C) c.4271G>C (p.Ser1424Thr) n.8098G>C c.4637G>C (p.Ser1546Thr) c.3914G>C (p.Ser1305Thr) c.2465G>C (p.Ser822Thr) | ClinVar |
2 | g.165386861G= | CA1304563778 | SCN2A | c.4667G= (p.Ser1556=) c.*2986G= (n.*2986G=) c.*2654G= (n.*2654G=) c.*5190G= (n.*5190G=) c.*2609G= (n.*2609G=) c.4271G= (p.Ser1424=) n.8098G= c.4637G= (p.Ser1546=) c.3914G= (p.Ser1305=) c.2465G= (p.Ser822=) | |
2 | g.165386861G>T | CA59750995 | SCN2A | c.4667G>T (p.Ser1556Ile) c.*2986G>T (n.*2986G>T) c.*2654G>T (n.*2654G>T) c.*5190G>T (n.*5190G>T) c.*2609G>T (n.*2609G>T) c.4271G>T (p.Ser1424Ile) n.8098G>T c.4637G>T (p.Ser1546Ile) c.3914G>T (p.Ser1305Ile) c.2465G>T (p.Ser822Ile) | dbSNP |
2 | g.165386862T>A | CA349036433 | SCN2A | c.4668T>A (p.Ser1556Arg) c.*2987T>A (n.*2987T>A) c.*2655T>A (n.*2655T>A) c.*5191T>A (n.*5191T>A) c.*2610T>A (n.*2610T>A) c.4272T>A (p.Ser1424Arg) n.8099T>A c.4638T>A (p.Ser1546Arg) c.3915T>A (p.Ser1305Arg) c.2466T>A (p.Ser822Arg) | |
2 | g.165386862T>C | CA429972617 | SCN2A | c.4668T>C (p.Ser1556=) c.*2987T>C (n.*2987T>C) c.*2655T>C (n.*2655T>C) c.*5191T>C (n.*5191T>C) c.*2610T>C (n.*2610T>C) c.4272T>C (p.Ser1424=) n.8099T>C c.4638T>C (p.Ser1546=) c.3915T>C (p.Ser1305=) c.2466T>C (p.Ser822=) | |
2 | g.165386862T>G | CA349036435 | SCN2A | c.4668T>G (p.Ser1556Arg) c.*2987T>G (n.*2987T>G) c.*2655T>G (n.*2655T>G) c.*5191T>G (n.*5191T>G) c.*2610T>G (n.*2610T>G) c.4272T>G (p.Ser1424Arg) n.8099T>G c.4638T>G (p.Ser1546Arg) c.3915T>G (p.Ser1305Arg) c.2466T>G (p.Ser822Arg) | dbSNP |
2 | g.165386862T= | CA1304563779 | SCN2A | c.4668T= (p.Ser1556=) c.*2987T= (n.*2987T=) c.*2655T= (n.*2655T=) c.*5191T= (n.*5191T=) c.*2610T= (n.*2610T=) c.4272T= (p.Ser1424=) n.8099T= c.4638T= (p.Ser1546=) c.3915T= (p.Ser1305=) c.2466T= (p.Ser822=) | |
2 | g.165386863C>A | CA349036440 | SCN2A | c.4669C>A (p.Gln1557Lys) c.*2988C>A (n.*2988C>A) c.*2656C>A (n.*2656C>A) c.*5192C>A (n.*5192C>A) c.*2611C>A (n.*2611C>A) c.4273C>A (p.Gln1425Lys) n.8100C>A c.4639C>A (p.Gln1547Lys) c.3916C>A (p.Gln1306Lys) c.2467C>A (p.Gln823Lys) | |
2 | g.165386863C= | CA1304563780 | SCN2A | c.4669C= (p.Gln1557=) c.*2988C= (n.*2988C=) c.*2656C= (n.*2656C=) c.*5192C= (n.*5192C=) c.*2611C= (n.*2611C=) c.4273C= (p.Gln1425=) n.8100C= c.4639C= (p.Gln1547=) c.3916C= (p.Gln1306=) c.2467C= (p.Gln823=) | |
2 | g.165386863C>G | CA349036438 | SCN2A | c.4669C>G (p.Gln1557Glu) c.*2988C>G (n.*2988C>G) c.*2656C>G (n.*2656C>G) c.*5192C>G (n.*5192C>G) c.*2611C>G (n.*2611C>G) c.4273C>G (p.Gln1425Glu) n.8100C>G c.4639C>G (p.Gln1547Glu) c.3916C>G (p.Gln1306Glu) c.2467C>G (p.Gln823Glu) | |
2 | g.165386863C>T | CA349036437 | SCN2A | c.4669C>T (p.Gln1557Ter) c.*2988C>T (n.*2988C>T) c.*2656C>T (n.*2656C>T) c.*5192C>T (n.*5192C>T) c.*2611C>T (n.*2611C>T) c.4273C>T (p.Gln1425Ter) n.8100C>T c.4639C>T (p.Gln1547Ter) c.3916C>T (p.Gln1306Ter) c.2467C>T (p.Gln823Ter) | dbSNP |
2 | g.165386864A>C | CA349036441 | SCN2A | c.4670A>C (p.Gln1557Pro) c.*2989A>C (n.*2989A>C) c.*2657A>C (n.*2657A>C) c.*5193A>C (n.*5193A>C) c.*2612A>C (n.*2612A>C) c.4274A>C (p.Gln1425Pro) n.8101A>C c.4640A>C (p.Gln1547Pro) c.3917A>C (p.Gln1306Pro) c.2468A>C (p.Gln823Pro) | |
2 | g.165386864A>G | CA349036442 | SCN2A | c.4670A>G (p.Gln1557Arg) c.*2989A>G (n.*2989A>G) c.*2657A>G (n.*2657A>G) c.*5193A>G (n.*5193A>G) c.*2612A>G (n.*2612A>G) c.4274A>G (p.Gln1425Arg) n.8101A>G c.4640A>G (p.Gln1547Arg) c.3917A>G (p.Gln1306Arg) c.2468A>G (p.Gln823Arg) | gnomAD v4 |
2 | g.165386864A>T | CA349036444 | SCN2A | c.4670A>T (p.Gln1557Leu) c.*2989A>T (n.*2989A>T) c.*2657A>T (n.*2657A>T) c.*5193A>T (n.*5193A>T) c.*2612A>T (n.*2612A>T) c.4274A>T (p.Gln1425Leu) n.8101A>T c.4640A>T (p.Gln1547Leu) c.3917A>T (p.Gln1306Leu) c.2468A>T (p.Gln823Leu) | |
2 | g.165386865dup | CA760137600 | SCN2A | c.4671dup (p.Glu1558ArgfsTer10) c.*2990dup (n.*2990dup) c.*2658dup (n.*2658dup) c.*5194dup (n.*5194dup) c.*2613dup (n.*2613dup) c.4275dup (p.Glu1426ArgfsTer10) n.8102dup c.4641dup (p.Glu1548ArgfsTer10) c.3918dup (p.Glu1307ArgfsTer10) c.2469dup (p.Glu824ArgfsTer10) | dbSNP |
2 | g.165386865A= | CA1304563781 | SCN2A | c.4671A= (p.Gln1557=) c.*2990A= (n.*2990A=) c.*2658A= (n.*2658A=) c.*5194A= (n.*5194A=) c.*2613A= (n.*2613A=) c.4275A= (p.Gln1425=) n.8102A= c.4641A= (p.Gln1547=) c.3918A= (p.Gln1306=) c.2469A= (p.Gln823=) | |
2 | g.165386865A>C | CA349036446 | SCN2A | c.4671A>C (p.Gln1557His) c.*2990A>C (n.*2990A>C) c.*2658A>C (n.*2658A>C) c.*5194A>C (n.*5194A>C) c.*2613A>C (n.*2613A>C) c.4275A>C (p.Gln1425His) n.8102A>C c.4641A>C (p.Gln1547His) c.3918A>C (p.Gln1306His) c.2469A>C (p.Gln823His) | |
2 | g.165386865A>G | CA1940314 | SCN2A | c.4671A>G (p.Gln1557=) c.*2990A>G (n.*2990A>G) c.*2658A>G (n.*2658A>G) c.*5194A>G (n.*5194A>G) c.*2613A>G (n.*2613A>G) c.4275A>G (p.Gln1425=) n.8102A>G c.4641A>G (p.Gln1547=) c.3918A>G (p.Gln1306=) c.2469A>G (p.Gln823=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165386865A>T | CA349036448 | SCN2A | c.4671A>T (p.Gln1557His) c.*2990A>T (n.*2990A>T) c.*2658A>T (n.*2658A>T) c.*5194A>T (n.*5194A>T) c.*2613A>T (n.*2613A>T) c.4275A>T (p.Gln1425His) n.8102A>T c.4641A>T (p.Gln1547His) c.3918A>T (p.Gln1306His) c.2469A>T (p.Gln823His) | |
2 | g.165386866G>A | CA349036449 | SCN2A | c.4672G>A (p.Glu1558Lys) c.*2991G>A (n.*2991G>A) c.*2659G>A (n.*2659G>A) c.*5195G>A (n.*5195G>A) c.*2614G>A (n.*2614G>A) c.4276G>A (p.Glu1426Lys) n.8103G>A c.4642G>A (p.Glu1548Lys) c.3919G>A (p.Glu1307Lys) c.2470G>A (p.Glu824Lys) | COSMIC COSMIC |
2 | g.165386866G>C | CA349036451 | SCN2A | c.4672G>C (p.Glu1558Gln) c.*2991G>C (n.*2991G>C) c.*2659G>C (n.*2659G>C) c.*5195G>C (n.*5195G>C) c.*2614G>C (n.*2614G>C) c.4276G>C (p.Glu1426Gln) n.8103G>C c.4642G>C (p.Glu1548Gln) c.3919G>C (p.Glu1307Gln) c.2470G>C (p.Glu824Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.165386866G= | CA1304563782 | SCN2A | c.4672G= (p.Glu1558=) c.*2991G= (n.*2991G=) c.*2659G= (n.*2659G=) c.*5195G= (n.*5195G=) c.*2614G= (n.*2614G=) c.4276G= (p.Glu1426=) n.8103G= c.4642G= (p.Glu1548=) c.3919G= (p.Glu1307=) c.2470G= (p.Glu824=) | |
2 | g.165386866G>T | CA349036452 | SCN2A | c.4672G>T (p.Glu1558Ter) c.*2991G>T (n.*2991G>T) c.*2659G>T (n.*2659G>T) c.*5195G>T (n.*5195G>T) c.*2614G>T (n.*2614G>T) c.4276G>T (p.Glu1426Ter) n.8103G>T c.4642G>T (p.Glu1548Ter) c.3919G>T (p.Glu1307Ter) c.2470G>T (p.Glu824Ter) | dbSNP |
2 | g.165386867A>C | CA349036454 | SCN2A | c.4673A>C (p.Glu1558Ala) c.*2992A>C (n.*2992A>C) c.*2660A>C (n.*2660A>C) c.*5196A>C (n.*5196A>C) c.*2615A>C (n.*2615A>C) c.4277A>C (p.Glu1426Ala) n.8104A>C c.4643A>C (p.Glu1548Ala) c.3920A>C (p.Glu1307Ala) c.2471A>C (p.Glu824Ala) | |
2 | g.165386867A>G | CA349036455 | SCN2A | c.4673A>G (p.Glu1558Gly) c.*2992A>G (n.*2992A>G) c.*2660A>G (n.*2660A>G) c.*5196A>G (n.*5196A>G) c.*2615A>G (n.*2615A>G) c.4277A>G (p.Glu1426Gly) n.8104A>G c.4643A>G (p.Glu1548Gly) c.3920A>G (p.Glu1307Gly) c.2471A>G (p.Glu824Gly) | |
2 | g.165386867A>T | CA349036456 | SCN2A | c.4673A>T (p.Glu1558Val) c.*2992A>T (n.*2992A>T) c.*2660A>T (n.*2660A>T) c.*5196A>T (n.*5196A>T) c.*2615A>T (n.*2615A>T) c.4277A>T (p.Glu1426Val) n.8104A>T c.4643A>T (p.Glu1548Val) c.3920A>T (p.Glu1307Val) c.2471A>T (p.Glu824Val) | |
2 | g.165386868A>C | CA349036458 | SCN2A | c.4674A>C (p.Glu1558Asp) c.*2993A>C (n.*2993A>C) c.*2661A>C (n.*2661A>C) c.*5197A>C (n.*5197A>C) c.*2616A>C (n.*2616A>C) c.4278A>C (p.Glu1426Asp) n.8105A>C c.4644A>C (p.Glu1548Asp) c.3921A>C (p.Glu1307Asp) c.2472A>C (p.Glu824Asp) | |
2 | g.165386868A>G | CA429972627 | SCN2A | c.4674A>G (p.Glu1558=) c.*2993A>G (n.*2993A>G) c.*2661A>G (n.*2661A>G) c.*5197A>G (n.*5197A>G) c.*2616A>G (n.*2616A>G) c.4278A>G (p.Glu1426=) n.8105A>G c.4644A>G (p.Glu1548=) c.3921A>G (p.Glu1307=) c.2472A>G (p.Glu824=) | |
2 | g.165386868A>T | CA349036459 | SCN2A | c.4674A>T (p.Glu1558Asp) c.*2993A>T (n.*2993A>T) c.*2661A>T (n.*2661A>T) c.*5197A>T (n.*5197A>T) c.*2616A>T (n.*2616A>T) c.4278A>T (p.Glu1426Asp) n.8105A>T c.4644A>T (p.Glu1548Asp) c.3921A>T (p.Glu1307Asp) c.2472A>T (p.Glu824Asp) | |
2 | g.165386869A= | CA1304563783 | SCN2A | c.4675A= (p.Met1559=) c.*2994A= (n.*2994A=) c.*2662A= (n.*2662A=) c.*5198A= (n.*5198A=) c.*2617A= (n.*2617A=) c.4279A= (p.Met1427=) n.8106A= c.4645A= (p.Met1549=) c.3922A= (p.Met1308=) c.2473A= (p.Met825=) | |
2 | g.165386869A>C | CA349036460 | SCN2A | c.4675A>C (p.Met1559Leu) c.*2994A>C (n.*2994A>C) c.*2662A>C (n.*2662A>C) c.*5198A>C (n.*5198A>C) c.*2617A>C (n.*2617A>C) c.4279A>C (p.Met1427Leu) n.8106A>C c.4645A>C (p.Met1549Leu) c.3922A>C (p.Met1308Leu) c.2473A>C (p.Met825Leu) | dbSNP |
2 | g.165386869A>G | CA349036461 | SCN2A | c.4675A>G (p.Met1559Val) c.*2994A>G (n.*2994A>G) c.*2662A>G (n.*2662A>G) c.*5198A>G (n.*5198A>G) c.*2617A>G (n.*2617A>G) c.4279A>G (p.Met1427Val) n.8106A>G c.4645A>G (p.Met1549Val) c.3922A>G (p.Met1308Val) c.2473A>G (p.Met825Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.165386869A>T | CA349036462 | SCN2A | c.4675A>T (p.Met1559Leu) c.*2994A>T (n.*2994A>T) c.*2662A>T (n.*2662A>T) c.*5198A>T (n.*5198A>T) c.*2617A>T (n.*2617A>T) c.4279A>T (p.Met1427Leu) n.8106A>T c.4645A>T (p.Met1549Leu) c.3922A>T (p.Met1308Leu) c.2473A>T (p.Met825Leu) | |
2 | g.165386870T>A | CA349036464 | SCN2A | c.4676T>A (p.Met1559Lys) c.*2995T>A (n.*2995T>A) c.*2663T>A (n.*2663T>A) c.*5199T>A (n.*5199T>A) c.*2618T>A (n.*2618T>A) c.4280T>A (p.Met1427Lys) n.8107T>A c.4646T>A (p.Met1549Lys) c.3923T>A (p.Met1308Lys) c.2474T>A (p.Met825Lys) | |
2 | g.165386870T>C | CA349036465 | SCN2A | c.4676T>C (p.Met1559Thr) c.*2995T>C (n.*2995T>C) c.*2663T>C (n.*2663T>C) c.*5199T>C (n.*5199T>C) c.*2618T>C (n.*2618T>C) c.4280T>C (p.Met1427Thr) n.8107T>C c.4646T>C (p.Met1549Thr) c.3923T>C (p.Met1308Thr) c.2474T>C (p.Met825Thr) | |
2 | g.165386870T>G | CA349036467 | SCN2A | c.4676T>G (p.Met1559Arg) c.*2995T>G (n.*2995T>G) c.*2663T>G (n.*2663T>G) c.*5199T>G (n.*5199T>G) c.*2618T>G (n.*2618T>G) c.4280T>G (p.Met1427Arg) n.8107T>G c.4646T>G (p.Met1549Arg) c.3923T>G (p.Met1308Arg) c.2474T>G (p.Met825Arg) | |
2 | g.165386871G>A | CA349036468 | SCN2A | c.4677G>A (p.Met1559Ile) c.*2996G>A (n.*2996G>A) c.*2664G>A (n.*2664G>A) c.*5200G>A (n.*5200G>A) c.*2619G>A (n.*2619G>A) c.4281G>A (p.Met1427Ile) n.8108G>A c.4647G>A (p.Met1549Ile) c.3924G>A (p.Met1308Ile) c.2475G>A (p.Met825Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.165386871G>C | CA349036469 | SCN2A | c.4677G>C (p.Met1559Ile) c.*2996G>C (n.*2996G>C) c.*2664G>C (n.*2664G>C) c.*5200G>C (n.*5200G>C) c.*2619G>C (n.*2619G>C) c.4281G>C (p.Met1427Ile) n.8108G>C c.4647G>C (p.Met1549Ile) c.3924G>C (p.Met1308Ile) c.2475G>C (p.Met825Ile) | |
2 | g.165386871G= | CA1304563784 | SCN2A | c.4677G= (p.Met1559=) c.*2996G= (n.*2996G=) c.*2664G= (n.*2664G=) c.*5200G= (n.*5200G=) c.*2619G= (n.*2619G=) c.4281G= (p.Met1427=) n.8108G= c.4647G= (p.Met1549=) c.3924G= (p.Met1308=) c.2475G= (p.Met825=) | |
2 | g.165386871G>T | CA349036471 | SCN2A | c.4677G>T (p.Met1559Ile) c.*2996G>T (n.*2996G>T) c.*2664G>T (n.*2664G>T) c.*5200G>T (n.*5200G>T) c.*2619G>T (n.*2619G>T) c.4281G>T (p.Met1427Ile) n.8108G>T c.4647G>T (p.Met1549Ile) c.3924G>T (p.Met1308Ile) c.2475G>T (p.Met825Ile) | dbSNP |
2 | g.165386872A>C | CA349036472 | SCN2A | c.4678A>C (p.Thr1560Pro) c.*2997A>C (n.*2997A>C) c.*2665A>C (n.*2665A>C) c.*5201A>C (n.*5201A>C) c.*2620A>C (n.*2620A>C) c.4282A>C (p.Thr1428Pro) n.8109A>C c.4648A>C (p.Thr1550Pro) c.3925A>C (p.Thr1309Pro) c.2476A>C (p.Thr826Pro) | |
2 | g.165386872A>G | CA349036474 | SCN2A | c.4678A>G (p.Thr1560Ala) c.*2997A>G (n.*2997A>G) c.*2665A>G (n.*2665A>G) c.*5201A>G (n.*5201A>G) c.*2620A>G (n.*2620A>G) c.4282A>G (p.Thr1428Ala) n.8109A>G c.4648A>G (p.Thr1550Ala) c.3925A>G (p.Thr1309Ala) c.2476A>G (p.Thr826Ala) | |
2 | g.165386872A>T | CA349036475 | SCN2A | c.4678A>T (p.Thr1560Ser) c.*2997A>T (n.*2997A>T) c.*2665A>T (n.*2665A>T) c.*5201A>T (n.*5201A>T) c.*2620A>T (n.*2620A>T) c.4282A>T (p.Thr1428Ser) n.8109A>T c.4648A>T (p.Thr1550Ser) c.3925A>T (p.Thr1309Ser) c.2476A>T (p.Thr826Ser) | |
2 | g.165386873C>A | CA349036480 | SCN2A | c.4679C>A (p.Thr1560Lys) c.*2998C>A (n.*2998C>A) c.*2666C>A (n.*2666C>A) c.*5202C>A (n.*5202C>A) c.*2621C>A (n.*2621C>A) c.4283C>A (p.Thr1428Lys) n.8110C>A c.4649C>A (p.Thr1550Lys) c.3926C>A (p.Thr1309Lys) c.2477C>A (p.Thr826Lys) | |
2 | g.165386873C>G | CA349036477 | SCN2A | c.4679C>G (p.Thr1560Arg) c.*2998C>G (n.*2998C>G) c.*2666C>G (n.*2666C>G) c.*5202C>G (n.*5202C>G) c.*2621C>G (n.*2621C>G) c.4283C>G (p.Thr1428Arg) n.8110C>G c.4649C>G (p.Thr1550Arg) c.3926C>G (p.Thr1309Arg) c.2477C>G (p.Thr826Arg) | |
2 | g.165386873C>T | CA349036478 | SCN2A | c.4679C>T (p.Thr1560Ile) c.*2998C>T (n.*2998C>T) c.*2666C>T (n.*2666C>T) c.*5202C>T (n.*5202C>T) c.*2621C>T (n.*2621C>T) c.4283C>T (p.Thr1428Ile) n.8110C>T c.4649C>T (p.Thr1550Ile) c.3926C>T (p.Thr1309Ile) c.2477C>T (p.Thr826Ile) | gnomAD v4 |
2 | g.165386874A>C | CA429972632 | SCN2A | c.4680A>C (p.Thr1560=) c.*2999A>C (n.*2999A>C) c.*2667A>C (n.*2667A>C) c.*5203A>C (n.*5203A>C) c.*2622A>C (n.*2622A>C) c.4284A>C (p.Thr1428=) n.8111A>C c.4650A>C (p.Thr1550=) c.3927A>C (p.Thr1309=) c.2478A>C (p.Thr826=) | |
2 | g.165386874A>G | CA429972633 | SCN2A | c.4680A>G (p.Thr1560=) c.*2999A>G (n.*2999A>G) c.*2667A>G (n.*2667A>G) c.*5203A>G (n.*5203A>G) c.*2622A>G (n.*2622A>G) c.4284A>G (p.Thr1428=) n.8111A>G c.4650A>G (p.Thr1550=) c.3927A>G (p.Thr1309=) c.2478A>G (p.Thr826=) | |
2 | g.165386874A>T | CA429972634 | SCN2A | c.4680A>T (p.Thr1560=) c.*2999A>T (n.*2999A>T) c.*2667A>T (n.*2667A>T) c.*5203A>T (n.*5203A>T) c.*2622A>T (n.*2622A>T) c.4284A>T (p.Thr1428=) n.8111A>T c.4650A>T (p.Thr1550=) c.3927A>T (p.Thr1309=) c.2478A>T (p.Thr826=) | |
2 | g.165386875A>C | CA349036482 | SCN2A | c.4681A>C (p.Asn1561His) c.*3000A>C (n.*3000A>C) c.*2668A>C (n.*2668A>C) c.*5204A>C (n.*5204A>C) c.*2623A>C (n.*2623A>C) c.4285A>C (p.Asn1429His) n.8112A>C c.4651A>C (p.Asn1551His) c.3928A>C (p.Asn1310His) c.2479A>C (p.Asn827His) | |
2 | g.165386875A>G | CA349036483 | SCN2A | c.4681A>G (p.Asn1561Asp) c.*3000A>G (n.*3000A>G) c.*2668A>G (n.*2668A>G) c.*5204A>G (n.*5204A>G) c.*2623A>G (n.*2623A>G) c.4285A>G (p.Asn1429Asp) n.8112A>G c.4651A>G (p.Asn1551Asp) c.3928A>G (p.Asn1310Asp) c.2479A>G (p.Asn827Asp) | |
2 | g.165386875A>T | CA349036484 | SCN2A | c.4681A>T (p.Asn1561Tyr) c.*3000A>T (n.*3000A>T) c.*2668A>T (n.*2668A>T) c.*5204A>T (n.*5204A>T) c.*2623A>T (n.*2623A>T) c.4285A>T (p.Asn1429Tyr) n.8112A>T c.4651A>T (p.Asn1551Tyr) c.3928A>T (p.Asn1310Tyr) c.2479A>T (p.Asn827Tyr) |