| 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.165386773T>A | CA349036206 | SCN2A | c.4579T>A (p.Phe1527Ile) c.*2898T>A (n.*2898T>A) c.*2566T>A (n.*2566T>A) c.*5102T>A (n.*5102T>A) c.*2521T>A (n.*2521T>A) c.4183T>A (p.Phe1395Ile) n.8010T>A c.4549T>A (p.Phe1517Ile) c.3826T>A (p.Phe1276Ile) c.2377T>A (p.Phe793Ile) | |
| 2 | g.165386773T>C | CA349036207 | SCN2A | c.4579T>C (p.Phe1527Leu) c.*2898T>C (n.*2898T>C) c.*2566T>C (n.*2566T>C) c.*5102T>C (n.*5102T>C) c.*2521T>C (n.*2521T>C) c.4183T>C (p.Phe1395Leu) n.8010T>C c.4549T>C (p.Phe1517Leu) c.3826T>C (p.Phe1276Leu) c.2377T>C (p.Phe793Leu) | |
| 2 | g.165386773T>G | CA349036208 | SCN2A | c.4579T>G (p.Phe1527Val) c.*2898T>G (n.*2898T>G) c.*2566T>G (n.*2566T>G) c.*5102T>G (n.*5102T>G) c.*2521T>G (n.*2521T>G) c.4183T>G (p.Phe1395Val) n.8010T>G c.4549T>G (p.Phe1517Val) c.3826T>G (p.Phe1276Val) c.2377T>G (p.Phe793Val) | ClinVar |
| 2 | g.165386774T>A | CA349036209 | SCN2A | c.4580T>A (p.Phe1527Tyr) c.*2899T>A (n.*2899T>A) c.*2567T>A (n.*2567T>A) c.*5103T>A (n.*5103T>A) c.*2522T>A (n.*2522T>A) c.4184T>A (p.Phe1395Tyr) n.8011T>A c.4550T>A (p.Phe1517Tyr) c.3827T>A (p.Phe1276Tyr) c.2378T>A (p.Phe793Tyr) | |
| 2 | g.165386774T>C | CA349036211 | SCN2A | c.4580T>C (p.Phe1527Ser) c.*2899T>C (n.*2899T>C) c.*2567T>C (n.*2567T>C) c.*5103T>C (n.*5103T>C) c.*2522T>C (n.*2522T>C) c.4184T>C (p.Phe1395Ser) n.8011T>C c.4550T>C (p.Phe1517Ser) c.3827T>C (p.Phe1276Ser) c.2378T>C (p.Phe793Ser) | gnomAD v4 |
| 2 | g.165386774T>G | CA349036210 | SCN2A | c.4580T>G (p.Phe1527Cys) c.*2899T>G (n.*2899T>G) c.*2567T>G (n.*2567T>G) c.*5103T>G (n.*5103T>G) c.*2522T>G (n.*2522T>G) c.4184T>G (p.Phe1395Cys) n.8011T>G c.4550T>G (p.Phe1517Cys) c.3827T>G (p.Phe1276Cys) c.2378T>G (p.Phe793Cys) | |
| 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) |