| 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.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) |