| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38894917C>A | CA352175118 | SCN11A | c.2451G>T (p.Glu817Asp) c.2271G>T (p.Glu757Asp) c.2495G>T (n.2495G>T) c.2070G>T (p.Glu690Asp) c.1788G>T (p.Glu596Asp) c.999G>T (p.Glu333Asp) c.2826G>T (p.Glu942Asp) c.2253G>T (p.Glu751Asp) c.2178G>T (p.Glu726Asp) c.855G>T (p.Glu285Asp) | gnomAD v4 |
| 3 | g.38894917C>G | CA352175117 | SCN11A | c.2451G>C (p.Glu817Asp) c.2271G>C (p.Glu757Asp) c.2495G>C (n.2495G>C) c.2070G>C (p.Glu690Asp) c.1788G>C (p.Glu596Asp) c.999G>C (p.Glu333Asp) c.2826G>C (p.Glu942Asp) c.2253G>C (p.Glu751Asp) c.2178G>C (p.Glu726Asp) c.855G>C (p.Glu285Asp) | |
| 3 | g.38894917C>T | CA433336226 | SCN11A | c.2451G>A (p.Glu817=) c.2271G>A (p.Glu757=) c.2495G>A (n.2495G>A) c.2070G>A (p.Glu690=) c.1788G>A (p.Glu596=) c.999G>A (p.Glu333=) c.2826G>A (p.Glu942=) c.2253G>A (p.Glu751=) c.2178G>A (p.Glu726=) c.855G>A (p.Glu285=) | |
| 3 | g.38894918T>A | CA352175119 | SCN11A | c.2450A>T (p.Glu817Val) c.2270A>T (p.Glu757Val) c.2494A>T (n.2494A>T) c.2069A>T (p.Glu690Val) c.1787A>T (p.Glu596Val) c.998A>T (p.Glu333Val) c.2825A>T (p.Glu942Val) c.2252A>T (p.Glu751Val) c.2177A>T (p.Glu726Val) c.854A>T (p.Glu285Val) | |
| 3 | g.38894918T>C | CA352175120 | SCN11A | c.2450A>G (p.Glu817Gly) c.2270A>G (p.Glu757Gly) c.2494A>G (n.2494A>G) c.2069A>G (p.Glu690Gly) c.1787A>G (p.Glu596Gly) c.998A>G (p.Glu333Gly) c.2825A>G (p.Glu942Gly) c.2252A>G (p.Glu751Gly) c.2177A>G (p.Glu726Gly) c.854A>G (p.Glu285Gly) | |
| 3 | g.38894918T>G | CA352175121 | SCN11A | c.2450A>C (p.Glu817Ala) c.2270A>C (p.Glu757Ala) c.2494A>C (n.2494A>C) c.2069A>C (p.Glu690Ala) c.1787A>C (p.Glu596Ala) c.998A>C (p.Glu333Ala) c.2825A>C (p.Glu942Ala) c.2252A>C (p.Glu751Ala) c.2177A>C (p.Glu726Ala) c.854A>C (p.Glu285Ala) | |
| 3 | g.38894919C>A | CA352175122 | SCN11A | c.2449G>T (p.Glu817Ter) c.2269G>T (p.Glu757Ter) c.2493G>T (n.2493G>T) c.2068G>T (p.Glu690Ter) c.1786G>T (p.Glu596Ter) c.997G>T (p.Glu333Ter) c.2824G>T (p.Glu942Ter) c.2251G>T (p.Glu751Ter) c.2176G>T (p.Glu726Ter) c.853G>T (p.Glu285Ter) | dbSNP |
| 3 | g.38894919C= | CA1358718294 | SCN11A | c.2449G= (p.Glu817=) c.2269G= (p.Glu757=) c.2493G= (n.2493G=) c.2068G= (p.Glu690=) c.1786G= (p.Glu596=) c.997G= (p.Glu333=) c.2824G= (p.Glu942=) c.2251G= (p.Glu751=) c.2176G= (p.Glu726=) c.853G= (p.Glu285=) | |
| 3 | g.38894919C>G | CA352175123 | SCN11A | c.2449G>C (p.Glu817Gln) c.2269G>C (p.Glu757Gln) c.2493G>C (n.2493G>C) c.2068G>C (p.Glu690Gln) c.1786G>C (p.Glu596Gln) c.997G>C (p.Glu333Gln) c.2824G>C (p.Glu942Gln) c.2251G>C (p.Glu751Gln) c.2176G>C (p.Glu726Gln) c.853G>C (p.Glu285Gln) | |
| 3 | g.38894919C>T | CA352175124 | SCN11A | c.2449G>A (p.Glu817Lys) c.2269G>A (p.Glu757Lys) c.2493G>A (n.2493G>A) c.2068G>A (p.Glu690Lys) c.1786G>A (p.Glu596Lys) c.997G>A (p.Glu333Lys) c.2824G>A (p.Glu942Lys) c.2251G>A (p.Glu751Lys) c.2176G>A (p.Glu726Lys) c.853G>A (p.Glu285Lys) | gnomAD v4 |
| 3 | g.38894920A= | CA1358718295 | SCN11A | c.2448T= (p.Asn816=) c.2268T= (p.Asn756=) c.2492T= (n.2492T=) c.2067T= (p.Asn689=) c.1785T= (p.Asn595=) c.996T= (p.Asn332=) c.2823T= (p.Asn941=) c.2250T= (p.Asn750=) c.2175T= (p.Asn725=) c.852T= (p.Asn284=) | |
| 3 | g.38894920A>C | CA352175125 | SCN11A | c.2448T>G (p.Asn816Lys) c.2268T>G (p.Asn756Lys) c.2492T>G (n.2492T>G) c.2067T>G (p.Asn689Lys) c.1785T>G (p.Asn595Lys) c.996T>G (p.Asn332Lys) c.2823T>G (p.Asn941Lys) c.2250T>G (p.Asn750Lys) c.2175T>G (p.Asn725Lys) c.852T>G (p.Asn284Lys) | |
| 3 | g.38894920A>G | CA433336227 | SCN11A | c.2448T>C (p.Asn816=) c.2268T>C (p.Asn756=) c.2492T>C (n.2492T>C) c.2067T>C (p.Asn689=) c.1785T>C (p.Asn595=) c.996T>C (p.Asn332=) c.2823T>C (p.Asn941=) c.2250T>C (p.Asn750=) c.2175T>C (p.Asn725=) c.852T>C (p.Asn284=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38894920A>T | CA2322034 | SCN11A | c.2448T>A (p.Asn816Lys) c.2268T>A (p.Asn756Lys) c.2492T>A (n.2492T>A) c.2067T>A (p.Asn689Lys) c.1785T>A (p.Asn595Lys) c.996T>A (p.Asn332Lys) c.2823T>A (p.Asn941Lys) c.2250T>A (p.Asn750Lys) c.2175T>A (p.Asn725Lys) c.852T>A (p.Asn284Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38894921T>A | CA352175126 | SCN11A | c.2447A>T (p.Asn816Ile) c.2267A>T (p.Asn756Ile) c.2491A>T (n.2491A>T) c.2066A>T (p.Asn689Ile) c.1784A>T (p.Asn595Ile) c.995A>T (p.Asn332Ile) c.2822A>T (p.Asn941Ile) c.2249A>T (p.Asn750Ile) c.2174A>T (p.Asn725Ile) c.851A>T (p.Asn284Ile) | |
| 3 | g.38894921T>C | CA352175127 | SCN11A | c.2447A>G (p.Asn816Ser) c.2267A>G (p.Asn756Ser) c.2491A>G (n.2491A>G) c.2066A>G (p.Asn689Ser) c.1784A>G (p.Asn595Ser) c.995A>G (p.Asn332Ser) c.2822A>G (p.Asn941Ser) c.2249A>G (p.Asn750Ser) c.2174A>G (p.Asn725Ser) c.851A>G (p.Asn284Ser) | |
| 3 | g.38894921T>G | CA352175128 | SCN11A | c.2447A>C (p.Asn816Thr) c.2267A>C (p.Asn756Thr) c.2491A>C (n.2491A>C) c.2066A>C (p.Asn689Thr) c.1784A>C (p.Asn595Thr) c.995A>C (p.Asn332Thr) c.2822A>C (p.Asn941Thr) c.2249A>C (p.Asn750Thr) c.2174A>C (p.Asn725Thr) c.851A>C (p.Asn284Thr) | |
| 3 | g.38894922T>A | CA352175129 | SCN11A | c.2446A>T (p.Asn816Tyr) c.2266A>T (p.Asn756Tyr) c.2490A>T (n.2490A>T) c.2065A>T (p.Asn689Tyr) c.1783A>T (p.Asn595Tyr) c.994A>T (p.Asn332Tyr) c.2821A>T (p.Asn941Tyr) c.2248A>T (p.Asn750Tyr) c.2173A>T (p.Asn725Tyr) c.850A>T (p.Asn284Tyr) | |
| 3 | g.38894922T>C | CA352175130 | SCN11A | c.2446A>G (p.Asn816Asp) c.2266A>G (p.Asn756Asp) c.2490A>G (n.2490A>G) c.2065A>G (p.Asn689Asp) c.1783A>G (p.Asn595Asp) c.994A>G (p.Asn332Asp) c.2821A>G (p.Asn941Asp) c.2248A>G (p.Asn750Asp) c.2173A>G (p.Asn725Asp) c.850A>G (p.Asn284Asp) | |
| 3 | g.38894922T>G | CA352175131 | SCN11A | c.2446A>C (p.Asn816His) c.2266A>C (p.Asn756His) c.2490A>C (n.2490A>C) c.2065A>C (p.Asn689His) c.1783A>C (p.Asn595His) c.994A>C (p.Asn332His) c.2821A>C (p.Asn941His) c.2248A>C (p.Asn750His) c.2173A>C (p.Asn725His) c.850A>C (p.Asn284His) | |
| 3 | g.38894923G>A | CA433336228 | SCN11A | c.2445C>T (p.Ser815=) c.2265C>T (p.Ser755=) c.2489C>T (n.2489C>T) c.2064C>T (p.Ser688=) c.1782C>T (p.Ser594=) c.993C>T (p.Ser331=) c.2820C>T (p.Ser940=) c.2247C>T (p.Ser749=) c.2172C>T (p.Ser724=) c.849C>T (p.Ser283=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38894923G>C | CA352175132 | SCN11A | c.2445C>G (p.Ser815Arg) c.2265C>G (p.Ser755Arg) c.2489C>G (n.2489C>G) c.2064C>G (p.Ser688Arg) c.1782C>G (p.Ser594Arg) c.993C>G (p.Ser331Arg) c.2820C>G (p.Ser940Arg) c.2247C>G (p.Ser749Arg) c.2172C>G (p.Ser724Arg) c.849C>G (p.Ser283Arg) | |
| 3 | g.38894923G= | CA1358718296 | SCN11A | c.2445C= (p.Ser815=) c.2265C= (p.Ser755=) c.2489C= (n.2489C=) c.2064C= (p.Ser688=) c.1782C= (p.Ser594=) c.993C= (p.Ser331=) c.2820C= (p.Ser940=) c.2247C= (p.Ser749=) c.2172C= (p.Ser724=) c.849C= (p.Ser283=) | |
| 3 | g.38894923G>T | CA352175133 | SCN11A | c.2445C>A (p.Ser815Arg) c.2265C>A (p.Ser755Arg) c.2489C>A (n.2489C>A) c.2064C>A (p.Ser688Arg) c.1782C>A (p.Ser594Arg) c.993C>A (p.Ser331Arg) c.2820C>A (p.Ser940Arg) c.2247C>A (p.Ser749Arg) c.2172C>A (p.Ser724Arg) c.849C>A (p.Ser283Arg) | |
| 3 | g.38894924C>A | CA352175134 | SCN11A | c.2444G>T (p.Ser815Ile) c.2264G>T (p.Ser755Ile) c.2488G>T (n.2488G>T) c.2063G>T (p.Ser688Ile) c.1781G>T (p.Ser594Ile) c.992G>T (p.Ser331Ile) c.2819G>T (p.Ser940Ile) c.2246G>T (p.Ser749Ile) c.2171G>T (p.Ser724Ile) c.848G>T (p.Ser283Ile) | |
| 3 | g.38894924C= | CA1358718297 | SCN11A | c.2444G= (p.Ser815=) c.2264G= (p.Ser755=) c.2488G= (n.2488G=) c.2063G= (p.Ser688=) c.1781G= (p.Ser594=) c.992G= (p.Ser331=) c.2819G= (p.Ser940=) c.2246G= (p.Ser749=) c.2171G= (p.Ser724=) c.848G= (p.Ser283=) | |
| 3 | g.38894924C>G | CA352175136 | SCN11A | c.2444G>C (p.Ser815Thr) c.2264G>C (p.Ser755Thr) c.2488G>C (n.2488G>C) c.2063G>C (p.Ser688Thr) c.1781G>C (p.Ser594Thr) c.992G>C (p.Ser331Thr) c.2819G>C (p.Ser940Thr) c.2246G>C (p.Ser749Thr) c.2171G>C (p.Ser724Thr) c.848G>C (p.Ser283Thr) | |
| 3 | g.38894924C>T | CA352175135 | SCN11A | c.2444G>A (p.Ser815Asn) c.2264G>A (p.Ser755Asn) c.2488G>A (n.2488G>A) c.2063G>A (p.Ser688Asn) c.1781G>A (p.Ser594Asn) c.992G>A (p.Ser331Asn) c.2819G>A (p.Ser940Asn) c.2246G>A (p.Ser749Asn) c.2171G>A (p.Ser724Asn) c.848G>A (p.Ser283Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38894925T>A | CA352175137 | SCN11A | c.2443A>T (p.Ser815Cys) c.2263A>T (p.Ser755Cys) c.2487A>T (n.2487A>T) c.2062A>T (p.Ser688Cys) c.1780A>T (p.Ser594Cys) c.991A>T (p.Ser331Cys) c.2818A>T (p.Ser940Cys) c.2245A>T (p.Ser749Cys) c.2170A>T (p.Ser724Cys) c.847A>T (p.Ser283Cys) | |
| 3 | g.38894925T>C | CA352175138 | SCN11A | c.2443A>G (p.Ser815Gly) c.2263A>G (p.Ser755Gly) c.2487A>G (n.2487A>G) c.2062A>G (p.Ser688Gly) c.1780A>G (p.Ser594Gly) c.991A>G (p.Ser331Gly) c.2818A>G (p.Ser940Gly) c.2245A>G (p.Ser749Gly) c.2170A>G (p.Ser724Gly) c.847A>G (p.Ser283Gly) | |
| 3 | g.38894925T>G | CA2322035 | SCN11A | c.2443A>C (p.Ser815Arg) c.2263A>C (p.Ser755Arg) c.2487A>C (n.2487A>C) c.2062A>C (p.Ser688Arg) c.1780A>C (p.Ser594Arg) c.991A>C (p.Ser331Arg) c.2818A>C (p.Ser940Arg) c.2245A>C (p.Ser749Arg) c.2170A>C (p.Ser724Arg) c.847A>C (p.Ser283Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38894925T= | CA1358718298 | SCN11A | c.2443A= (p.Ser815=) c.2263A= (p.Ser755=) c.2487A= (n.2487A=) c.2062A= (p.Ser688=) c.1780A= (p.Ser594=) c.991A= (p.Ser331=) c.2818A= (p.Ser940=) c.2245A= (p.Ser749=) c.2170A= (p.Ser724=) c.847A= (p.Ser283=) | |
| 3 | g.38894926A>C | CA352175139 | SCN11A | c.2442T>G (p.Phe814Leu) c.2262T>G (p.Phe754Leu) c.2486T>G (n.2486T>G) c.2061T>G (p.Phe687Leu) c.1779T>G (p.Phe593Leu) c.990T>G (p.Phe330Leu) c.2817T>G (p.Phe939Leu) c.2244T>G (p.Phe748Leu) c.2169T>G (p.Phe723Leu) c.846T>G (p.Phe282Leu) | |
| 3 | g.38894926A>G | CA433336229 | SCN11A | c.2442T>C (p.Phe814=) c.2262T>C (p.Phe754=) c.2486T>C (n.2486T>C) c.2061T>C (p.Phe687=) c.1779T>C (p.Phe593=) c.990T>C (p.Phe330=) c.2817T>C (p.Phe939=) c.2244T>C (p.Phe748=) c.2169T>C (p.Phe723=) c.846T>C (p.Phe282=) | |
| 3 | g.38894926A>T | CA352175140 | SCN11A | c.2442T>A (p.Phe814Leu) c.2262T>A (p.Phe754Leu) c.2486T>A (n.2486T>A) c.2061T>A (p.Phe687Leu) c.1779T>A (p.Phe593Leu) c.990T>A (p.Phe330Leu) c.2817T>A (p.Phe939Leu) c.2244T>A (p.Phe748Leu) c.2169T>A (p.Phe723Leu) c.846T>A (p.Phe282Leu) | |
| 3 | g.38894927A>C | CA352175141 | SCN11A | c.2441T>G (p.Phe814Cys) c.2261T>G (p.Phe754Cys) c.2485T>G (n.2485T>G) c.2060T>G (p.Phe687Cys) c.1778T>G (p.Phe593Cys) c.989T>G (p.Phe330Cys) c.2816T>G (p.Phe939Cys) c.2243T>G (p.Phe748Cys) c.2168T>G (p.Phe723Cys) c.845T>G (p.Phe282Cys) | |
| 3 | g.38894927A>G | CA352175142 | SCN11A | c.2441T>C (p.Phe814Ser) c.2261T>C (p.Phe754Ser) c.2485T>C (n.2485T>C) c.2060T>C (p.Phe687Ser) c.1778T>C (p.Phe593Ser) c.989T>C (p.Phe330Ser) c.2816T>C (p.Phe939Ser) c.2243T>C (p.Phe748Ser) c.2168T>C (p.Phe723Ser) c.845T>C (p.Phe282Ser) | |
| 3 | g.38894927A>T | CA352175143 | SCN11A | c.2441T>A (p.Phe814Tyr) c.2261T>A (p.Phe754Tyr) c.2485T>A (n.2485T>A) c.2060T>A (p.Phe687Tyr) c.1778T>A (p.Phe593Tyr) c.989T>A (p.Phe330Tyr) c.2816T>A (p.Phe939Tyr) c.2243T>A (p.Phe748Tyr) c.2168T>A (p.Phe723Tyr) c.845T>A (p.Phe282Tyr) | |
| 3 | g.38894928A>C | CA352175144 | SCN11A | c.2440T>G (p.Phe814Val) c.2260T>G (p.Phe754Val) c.2484T>G (n.2484T>G) c.2059T>G (p.Phe687Val) c.1777T>G (p.Phe593Val) c.988T>G (p.Phe330Val) c.2815T>G (p.Phe939Val) c.2242T>G (p.Phe748Val) c.2167T>G (p.Phe723Val) c.844T>G (p.Phe282Val) | |
| 3 | g.38894928A>G | CA352175145 | SCN11A | c.2440T>C (p.Phe814Leu) c.2260T>C (p.Phe754Leu) c.2484T>C (n.2484T>C) c.2059T>C (p.Phe687Leu) c.1777T>C (p.Phe593Leu) c.988T>C (p.Phe330Leu) c.2815T>C (p.Phe939Leu) c.2242T>C (p.Phe748Leu) c.2167T>C (p.Phe723Leu) c.844T>C (p.Phe282Leu) | |
| 3 | g.38894928A>T | CA352175146 | SCN11A | c.2440T>A (p.Phe814Ile) c.2260T>A (p.Phe754Ile) c.2484T>A (n.2484T>A) c.2059T>A (p.Phe687Ile) c.1777T>A (p.Phe593Ile) c.988T>A (p.Phe330Ile) c.2815T>A (p.Phe939Ile) c.2242T>A (p.Phe748Ile) c.2167T>A (p.Phe723Ile) c.844T>A (p.Phe282Ile) | |
| 3 | g.38894929G>A | CA433336230 | SCN11A | c.2439C>T (p.Ser813=) c.2259C>T (p.Ser753=) c.2483C>T (n.2483C>T) c.2058C>T (p.Ser686=) c.1776C>T (p.Ser592=) c.987C>T (p.Ser329=) c.2814C>T (p.Ser938=) c.2241C>T (p.Ser747=) c.2166C>T (p.Ser722=) c.843C>T (p.Ser281=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38894929G>C | CA433336232 | SCN11A | c.2439C>G (p.Ser813=) c.2259C>G (p.Ser753=) c.2483C>G (n.2483C>G) c.2058C>G (p.Ser686=) c.1776C>G (p.Ser592=) c.987C>G (p.Ser329=) c.2814C>G (p.Ser938=) c.2241C>G (p.Ser747=) c.2166C>G (p.Ser722=) c.843C>G (p.Ser281=) | gnomAD v4 |
| 3 | g.38894929G= | CA1358718299 | SCN11A | c.2439C= (p.Ser813=) c.2259C= (p.Ser753=) c.2483C= (n.2483C=) c.2058C= (p.Ser686=) c.1776C= (p.Ser592=) c.987C= (p.Ser329=) c.2814C= (p.Ser938=) c.2241C= (p.Ser747=) c.2166C= (p.Ser722=) c.843C= (p.Ser281=) | |
| 3 | g.38894929G>T | CA433336231 | SCN11A | c.2439C>A (p.Ser813=) c.2259C>A (p.Ser753=) c.2483C>A (n.2483C>A) c.2058C>A (p.Ser686=) c.1776C>A (p.Ser592=) c.987C>A (p.Ser329=) c.2814C>A (p.Ser938=) c.2241C>A (p.Ser747=) c.2166C>A (p.Ser722=) c.843C>A (p.Ser281=) | |
| 3 | g.38894930G>A | CA352175147 | SCN11A | c.2438C>T (p.Ser813Phe) c.2258C>T (p.Ser753Phe) c.2482C>T (n.2482C>T) c.2057C>T (p.Ser686Phe) c.1775C>T (p.Ser592Phe) c.986C>T (p.Ser329Phe) c.2813C>T (p.Ser938Phe) c.2240C>T (p.Ser747Phe) c.2165C>T (p.Ser722Phe) c.842C>T (p.Ser281Phe) | dbSNP COSMIC |
| 3 | g.38894930G>C | CA352175148 | SCN11A | c.2438C>G (p.Ser813Cys) c.2258C>G (p.Ser753Cys) c.2482C>G (n.2482C>G) c.2057C>G (p.Ser686Cys) c.1775C>G (p.Ser592Cys) c.986C>G (p.Ser329Cys) c.2813C>G (p.Ser938Cys) c.2240C>G (p.Ser747Cys) c.2165C>G (p.Ser722Cys) c.842C>G (p.Ser281Cys) | |
| 3 | g.38894930G>T | CA352175149 | SCN11A | c.2438C>A (p.Ser813Tyr) c.2258C>A (p.Ser753Tyr) c.2482C>A (n.2482C>A) c.2057C>A (p.Ser686Tyr) c.1775C>A (p.Ser592Tyr) c.986C>A (p.Ser329Tyr) c.2813C>A (p.Ser938Tyr) c.2240C>A (p.Ser747Tyr) c.2165C>A (p.Ser722Tyr) c.842C>A (p.Ser281Tyr) | |
| 3 | g.38894931A>C | CA352175150 | SCN11A | c.2437T>G (p.Ser813Ala) c.2257T>G (p.Ser753Ala) c.2481T>G (n.2481T>G) c.2056T>G (p.Ser686Ala) c.1774T>G (p.Ser592Ala) c.985T>G (p.Ser329Ala) c.2812T>G (p.Ser938Ala) c.2239T>G (p.Ser747Ala) c.2164T>G (p.Ser722Ala) c.841T>G (p.Ser281Ala) | |
| 3 | g.38894931A>G | CA352175151 | SCN11A | c.2437T>C (p.Ser813Pro) c.2257T>C (p.Ser753Pro) c.2481T>C (n.2481T>C) c.2056T>C (p.Ser686Pro) c.1774T>C (p.Ser592Pro) c.985T>C (p.Ser329Pro) c.2812T>C (p.Ser938Pro) c.2239T>C (p.Ser747Pro) c.2164T>C (p.Ser722Pro) c.841T>C (p.Ser281Pro) | |
| 3 | g.38894931A>T | CA352175152 | SCN11A | c.2437T>A (p.Ser813Thr) c.2257T>A (p.Ser753Thr) c.2481T>A (n.2481T>A) c.2056T>A (p.Ser686Thr) c.1774T>A (p.Ser592Thr) c.985T>A (p.Ser329Thr) c.2812T>A (p.Ser938Thr) c.2239T>A (p.Ser747Thr) c.2164T>A (p.Ser722Thr) c.841T>A (p.Ser281Thr) | |
| 3 | g.38894932A>C | CA352175154 | SCN11A | c.2436T>G (p.Asn812Lys) c.2256T>G (p.Asn752Lys) c.2480T>G (n.2480T>G) c.2055T>G (p.Asn685Lys) c.1773T>G (p.Asn591Lys) c.984T>G (p.Asn328Lys) c.2811T>G (p.Asn937Lys) c.2238T>G (p.Asn746Lys) c.2163T>G (p.Asn721Lys) c.840T>G (p.Asn280Lys) | |
| 3 | g.38894932A>G | CA433336233 | SCN11A | c.2436T>C (p.Asn812=) c.2256T>C (p.Asn752=) c.2480T>C (n.2480T>C) c.2055T>C (p.Asn685=) c.1773T>C (p.Asn591=) c.984T>C (p.Asn328=) c.2811T>C (p.Asn937=) c.2238T>C (p.Asn746=) c.2163T>C (p.Asn721=) c.840T>C (p.Asn280=) | |
| 3 | g.38894932A>T | CA352175153 | SCN11A | c.2436T>A (p.Asn812Lys) c.2256T>A (p.Asn752Lys) c.2480T>A (n.2480T>A) c.2055T>A (p.Asn685Lys) c.1773T>A (p.Asn591Lys) c.984T>A (p.Asn328Lys) c.2811T>A (p.Asn937Lys) c.2238T>A (p.Asn746Lys) c.2163T>A (p.Asn721Lys) c.840T>A (p.Asn280Lys) | |
| 3 | g.38894933T>A | CA352175155 | SCN11A | c.2435A>T (p.Asn812Ile) c.2255A>T (p.Asn752Ile) c.2479A>T (n.2479A>T) c.2054A>T (p.Asn685Ile) c.1772A>T (p.Asn591Ile) c.983A>T (p.Asn328Ile) c.2810A>T (p.Asn937Ile) c.2237A>T (p.Asn746Ile) c.2162A>T (p.Asn721Ile) c.839A>T (p.Asn280Ile) | |
| 3 | g.38894933T>C | CA352175156 | SCN11A | c.2435A>G (p.Asn812Ser) c.2255A>G (p.Asn752Ser) c.2479A>G (n.2479A>G) c.2054A>G (p.Asn685Ser) c.1772A>G (p.Asn591Ser) c.983A>G (p.Asn328Ser) c.2810A>G (p.Asn937Ser) c.2237A>G (p.Asn746Ser) c.2162A>G (p.Asn721Ser) c.839A>G (p.Asn280Ser) | ClinVar dbSNP |
| 3 | g.38894933T>G | CA352175157 | SCN11A | c.2435A>C (p.Asn812Thr) c.2255A>C (p.Asn752Thr) c.2479A>C (n.2479A>C) c.2054A>C (p.Asn685Thr) c.1772A>C (p.Asn591Thr) c.983A>C (p.Asn328Thr) c.2810A>C (p.Asn937Thr) c.2237A>C (p.Asn746Thr) c.2162A>C (p.Asn721Thr) c.839A>C (p.Asn280Thr) | |
| 3 | g.38894934T>A | CA352175158 | SCN11A | c.2434A>T (p.Asn812Tyr) c.2254A>T (p.Asn752Tyr) c.2478A>T (n.2478A>T) c.2053A>T (p.Asn685Tyr) c.1771A>T (p.Asn591Tyr) c.982A>T (p.Asn328Tyr) c.2809A>T (p.Asn937Tyr) c.2236A>T (p.Asn746Tyr) c.2161A>T (p.Asn721Tyr) c.838A>T (p.Asn280Tyr) | ClinVar |
| 3 | g.38894934T>C | CA352175159 | SCN11A | c.2434A>G (p.Asn812Asp) c.2254A>G (p.Asn752Asp) c.2478A>G (n.2478A>G) c.2053A>G (p.Asn685Asp) c.1771A>G (p.Asn591Asp) c.982A>G (p.Asn328Asp) c.2809A>G (p.Asn937Asp) c.2236A>G (p.Asn746Asp) c.2161A>G (p.Asn721Asp) c.838A>G (p.Asn280Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38894934T>G | CA352175160 | SCN11A | c.2434A>C (p.Asn812His) c.2254A>C (p.Asn752His) c.2478A>C (n.2478A>C) c.2053A>C (p.Asn685His) c.1771A>C (p.Asn591His) c.982A>C (p.Asn328His) c.2809A>C (p.Asn937His) c.2236A>C (p.Asn746His) c.2161A>C (p.Asn721His) c.838A>C (p.Asn280His) | gnomAD v4 |
| 3 | g.38894934T= | CA1358718300 | SCN11A | c.2434A= (p.Asn812=) c.2254A= (p.Asn752=) c.2478A= (n.2478A=) c.2053A= (p.Asn685=) c.1771A= (p.Asn591=) c.982A= (p.Asn328=) c.2809A= (p.Asn937=) c.2236A= (p.Asn746=) c.2161A= (p.Asn721=) c.838A= (p.Asn280=) | |
| 3 | g.38894935G>A | CA433336234 | SCN11A | c.2433C>T (p.Leu811=) c.2253C>T (p.Leu751=) c.2477C>T (n.2477C>T) c.2052C>T (p.Leu684=) c.1770C>T (p.Leu590=) c.981C>T (p.Leu327=) c.2808C>T (p.Leu936=) c.2235C>T (p.Leu745=) c.2160C>T (p.Leu720=) c.837C>T (p.Leu279=) | gnomAD v4 |
| 3 | g.38894935G>C | CA2322036 | SCN11A | c.2433C>G (p.Leu811=) c.2253C>G (p.Leu751=) c.2477C>G (n.2477C>G) c.2052C>G (p.Leu684=) c.1770C>G (p.Leu590=) c.981C>G (p.Leu327=) c.2808C>G (p.Leu936=) c.2235C>G (p.Leu745=) c.2160C>G (p.Leu720=) c.837C>G (p.Leu279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38894935G= | CA1358718301 | SCN11A | c.2433C= (p.Leu811=) c.2253C= (p.Leu751=) c.2477C= (n.2477C=) c.2052C= (p.Leu684=) c.1770C= (p.Leu590=) c.981C= (p.Leu327=) c.2808C= (p.Leu936=) c.2235C= (p.Leu745=) c.2160C= (p.Leu720=) c.837C= (p.Leu279=) | |
| 3 | g.38894935G>T | CA433336235 | SCN11A | c.2433C>A (p.Leu811=) c.2253C>A (p.Leu751=) c.2477C>A (n.2477C>A) c.2052C>A (p.Leu684=) c.1770C>A (p.Leu590=) c.981C>A (p.Leu327=) c.2808C>A (p.Leu936=) c.2235C>A (p.Leu745=) c.2160C>A (p.Leu720=) c.837C>A (p.Leu279=) | gnomAD v4 |
| 3 | g.38894936A= | CA1358718302 | SCN11A | c.2432T= (p.Leu811=) c.2252T= (p.Leu751=) c.2476T= (n.2476T=) c.2051T= (p.Leu684=) c.1769T= (p.Leu590=) c.980T= (p.Leu327=) c.2807T= (p.Leu936=) c.2234T= (p.Leu745=) c.2159T= (p.Leu720=) c.836T= (p.Leu279=) | |
| 3 | g.38894936A>C | CA352175161 | SCN11A | c.2432T>G (p.Leu811Arg) c.2252T>G (p.Leu751Arg) c.2476T>G (n.2476T>G) c.2051T>G (p.Leu684Arg) c.1769T>G (p.Leu590Arg) c.980T>G (p.Leu327Arg) c.2807T>G (p.Leu936Arg) c.2234T>G (p.Leu745Arg) c.2159T>G (p.Leu720Arg) c.836T>G (p.Leu279Arg) | |
| 3 | g.38894936A>G | CA145432 | SCN11A | c.2432T>C (p.Leu811Pro) c.2252T>C (p.Leu751Pro) c.2476T>C (n.2476T>C) c.2051T>C (p.Leu684Pro) c.1769T>C (p.Leu590Pro) c.980T>C (p.Leu327Pro) c.2807T>C (p.Leu936Pro) c.2234T>C (p.Leu745Pro) c.2159T>C (p.Leu720Pro) c.836T>C (p.Leu279Pro) | ClinVar dbSNP |
| 3 | g.38894936A>T | CA352175162 | SCN11A | c.2432T>A (p.Leu811His) c.2252T>A (p.Leu751His) c.2476T>A (n.2476T>A) c.2051T>A (p.Leu684His) c.1769T>A (p.Leu590His) c.980T>A (p.Leu327His) c.2807T>A (p.Leu936His) c.2234T>A (p.Leu745His) c.2159T>A (p.Leu720His) c.836T>A (p.Leu279His) | |
| 3 | g.38894937G>A | CA352175163 | SCN11A | c.2431C>T (p.Leu811Phe) c.2251C>T (p.Leu751Phe) c.2475C>T (n.2475C>T) c.2050C>T (p.Leu684Phe) c.1768C>T (p.Leu590Phe) c.979C>T (p.Leu327Phe) c.2806C>T (p.Leu936Phe) c.2233C>T (p.Leu745Phe) c.2158C>T (p.Leu720Phe) c.835C>T (p.Leu279Phe) | |
| 3 | g.38894937G>C | CA352175164 | SCN11A | c.2431C>G (p.Leu811Val) c.2251C>G (p.Leu751Val) c.2475C>G (n.2475C>G) c.2050C>G (p.Leu684Val) c.1768C>G (p.Leu590Val) c.979C>G (p.Leu327Val) c.2806C>G (p.Leu936Val) c.2233C>G (p.Leu745Val) c.2158C>G (p.Leu720Val) c.835C>G (p.Leu279Val) | |
| 3 | g.38894937G>T | CA352175165 | SCN11A | c.2431C>A (p.Leu811Ile) c.2251C>A (p.Leu751Ile) c.2475C>A (n.2475C>A) c.2050C>A (p.Leu684Ile) c.1768C>A (p.Leu590Ile) c.979C>A (p.Leu327Ile) c.2806C>A (p.Leu936Ile) c.2233C>A (p.Leu745Ile) c.2158C>A (p.Leu720Ile) c.835C>A (p.Leu279Ile) | |
| 3 | g.38894938C>A | CA433336238 | SCN11A | c.2430G>T (p.Leu810=) c.2250G>T (p.Leu750=) c.2474G>T (n.2474G>T) c.2049G>T (p.Leu683=) c.1767G>T (p.Leu589=) c.978G>T (p.Leu326=) c.2805G>T (p.Leu935=) c.2232G>T (p.Leu744=) c.2157G>T (p.Leu719=) c.834G>T (p.Leu278=) | |
| 3 | g.38894938C>G | CA433336236 | SCN11A | c.2430G>C (p.Leu810=) c.2250G>C (p.Leu750=) c.2474G>C (n.2474G>C) c.2049G>C (p.Leu683=) c.1767G>C (p.Leu589=) c.978G>C (p.Leu326=) c.2805G>C (p.Leu935=) c.2232G>C (p.Leu744=) c.2157G>C (p.Leu719=) c.834G>C (p.Leu278=) | |
| 3 | g.38894938C>T | CA433336237 | SCN11A | c.2430G>A (p.Leu810=) c.2250G>A (p.Leu750=) c.2474G>A (n.2474G>A) c.2049G>A (p.Leu683=) c.1767G>A (p.Leu589=) c.978G>A (p.Leu326=) c.2805G>A (p.Leu935=) c.2232G>A (p.Leu744=) c.2157G>A (p.Leu719=) c.834G>A (p.Leu278=) | |
| 3 | g.38894939A>C | CA352175166 | SCN11A | c.2429T>G (p.Leu810Arg) c.2249T>G (p.Leu750Arg) c.2473T>G (n.2473T>G) c.2048T>G (p.Leu683Arg) c.1766T>G (p.Leu589Arg) c.977T>G (p.Leu326Arg) c.2804T>G (p.Leu935Arg) c.2231T>G (p.Leu744Arg) c.2156T>G (p.Leu719Arg) c.833T>G (p.Leu278Arg) | |
| 3 | g.38894939A>G | CA352175168 | SCN11A | c.2429T>C (p.Leu810Pro) c.2249T>C (p.Leu750Pro) c.2473T>C (n.2473T>C) c.2048T>C (p.Leu683Pro) c.1766T>C (p.Leu589Pro) c.977T>C (p.Leu326Pro) c.2804T>C (p.Leu935Pro) c.2231T>C (p.Leu744Pro) c.2156T>C (p.Leu719Pro) c.833T>C (p.Leu278Pro) | |
| 3 | g.38894939A>T | CA352175167 | SCN11A | c.2429T>A (p.Leu810Gln) c.2249T>A (p.Leu750Gln) c.2473T>A (n.2473T>A) c.2048T>A (p.Leu683Gln) c.1766T>A (p.Leu589Gln) c.977T>A (p.Leu326Gln) c.2804T>A (p.Leu935Gln) c.2231T>A (p.Leu744Gln) c.2156T>A (p.Leu719Gln) c.833T>A (p.Leu278Gln) | gnomAD v4 |
| 3 | g.38894940G>A | CA433336239 | SCN11A | c.2428C>T (p.Leu810=) c.2248C>T (p.Leu750=) c.2472C>T (n.2472C>T) c.2047C>T (p.Leu683=) c.1765C>T (p.Leu589=) c.976C>T (p.Leu326=) c.2803C>T (p.Leu935=) c.2230C>T (p.Leu744=) c.2155C>T (p.Leu719=) c.832C>T (p.Leu278=) | |
| 3 | g.38894940G>C | CA352175169 | SCN11A | c.2428C>G (p.Leu810Val) c.2248C>G (p.Leu750Val) c.2472C>G (n.2472C>G) c.2047C>G (p.Leu683Val) c.1765C>G (p.Leu589Val) c.976C>G (p.Leu326Val) c.2803C>G (p.Leu935Val) c.2230C>G (p.Leu744Val) c.2155C>G (p.Leu719Val) c.832C>G (p.Leu278Val) | |
| 3 | g.38894940G>T | CA352175170 | SCN11A | c.2428C>A (p.Leu810Met) c.2248C>A (p.Leu750Met) c.2472C>A (n.2472C>A) c.2047C>A (p.Leu683Met) c.1765C>A (p.Leu589Met) c.976C>A (p.Leu326Met) c.2803C>A (p.Leu935Met) c.2230C>A (p.Leu744Met) c.2155C>A (p.Leu719Met) c.832C>A (p.Leu278Met) | |
| 3 | g.38894941T>A | CA352175171 | SCN11A | c.2427A>T (p.Leu809Phe) c.2247A>T (p.Leu749Phe) c.2471A>T (n.2471A>T) c.2046A>T (p.Leu682Phe) c.1764A>T (p.Leu588Phe) c.975A>T (p.Leu325Phe) c.2802A>T (p.Leu934Phe) c.2229A>T (p.Leu743Phe) c.2154A>T (p.Leu718Phe) c.831A>T (p.Leu277Phe) | |
| 3 | g.38894941T>C | CA433336240 | SCN11A | c.2427A>G (p.Leu809=) c.2247A>G (p.Leu749=) c.2471A>G (n.2471A>G) c.2046A>G (p.Leu682=) c.1764A>G (p.Leu588=) c.975A>G (p.Leu325=) c.2802A>G (p.Leu934=) c.2229A>G (p.Leu743=) c.2154A>G (p.Leu718=) c.831A>G (p.Leu277=) | |
| 3 | g.38894941T>G | CA352175172 | SCN11A | c.2427A>C (p.Leu809Phe) c.2247A>C (p.Leu749Phe) c.2471A>C (n.2471A>C) c.2046A>C (p.Leu682Phe) c.1764A>C (p.Leu588Phe) c.975A>C (p.Leu325Phe) c.2802A>C (p.Leu934Phe) c.2229A>C (p.Leu743Phe) c.2154A>C (p.Leu718Phe) c.831A>C (p.Leu277Phe) | |
| 3 | g.38894942A>C | CA352175173 | SCN11A | c.2426T>G (p.Leu809Ter) c.2246T>G (p.Leu749Ter) c.2470T>G (n.2470T>G) c.2045T>G (p.Leu682Ter) c.1763T>G (p.Leu588Ter) c.974T>G (p.Leu325Ter) c.2801T>G (p.Leu934Ter) c.2228T>G (p.Leu743Ter) c.2153T>G (p.Leu718Ter) c.830T>G (p.Leu277Ter) | |
| 3 | g.38894942A>G | CA352175174 | SCN11A | c.2426T>C (p.Leu809Ser) c.2246T>C (p.Leu749Ser) c.2470T>C (n.2470T>C) c.2045T>C (p.Leu682Ser) c.1763T>C (p.Leu588Ser) c.974T>C (p.Leu325Ser) c.2801T>C (p.Leu934Ser) c.2228T>C (p.Leu743Ser) c.2153T>C (p.Leu718Ser) c.830T>C (p.Leu277Ser) | |
| 3 | g.38894942A>T | CA352175175 | SCN11A | c.2426T>A (p.Leu809Ter) c.2246T>A (p.Leu749Ter) c.2470T>A (n.2470T>A) c.2045T>A (p.Leu682Ter) c.1763T>A (p.Leu588Ter) c.974T>A (p.Leu325Ter) c.2801T>A (p.Leu934Ter) c.2228T>A (p.Leu743Ter) c.2153T>A (p.Leu718Ter) c.830T>A (p.Leu277Ter) | |
| 3 | g.38894943A= | CA1358718303 | SCN11A | c.2425T= (p.Leu809=) c.2245T= (p.Leu749=) c.2469T= (n.2469T=) c.2044T= (p.Leu682=) c.1762T= (p.Leu588=) c.973T= (p.Leu325=) c.2800T= (p.Leu934=) c.2227T= (p.Leu743=) c.2152T= (p.Leu718=) c.829T= (p.Leu277=) | |
| 3 | g.38894943A>C | CA72997896 | SCN11A | c.2425T>G (p.Leu809Val) c.2245T>G (p.Leu749Val) c.2469T>G (n.2469T>G) c.2044T>G (p.Leu682Val) c.1762T>G (p.Leu588Val) c.973T>G (p.Leu325Val) c.2800T>G (p.Leu934Val) c.2227T>G (p.Leu743Val) c.2152T>G (p.Leu718Val) c.829T>G (p.Leu277Val) | dbSNP |
| 3 | g.38894943A>G | CA433336241 | SCN11A | c.2425T>C (p.Leu809=) c.2245T>C (p.Leu749=) c.2469T>C (n.2469T>C) c.2044T>C (p.Leu682=) c.1762T>C (p.Leu588=) c.973T>C (p.Leu325=) c.2800T>C (p.Leu934=) c.2227T>C (p.Leu743=) c.2152T>C (p.Leu718=) c.829T>C (p.Leu277=) | |
| 3 | g.38894943A>T | CA352175176 | SCN11A | c.2425T>A (p.Leu809Ile) c.2245T>A (p.Leu749Ile) c.2469T>A (n.2469T>A) c.2044T>A (p.Leu682Ile) c.1762T>A (p.Leu588Ile) c.973T>A (p.Leu325Ile) c.2800T>A (p.Leu934Ile) c.2227T>A (p.Leu743Ile) c.2152T>A (p.Leu718Ile) c.829T>A (p.Leu277Ile) | |
| 3 | g.38894944G>A | CA433336244 | SCN11A | c.2424C>T (p.Ala808=) c.2244C>T (p.Ala748=) c.2468C>T (n.2468C>T) c.2043C>T (p.Ala681=) c.1761C>T (p.Ala587=) c.972C>T (p.Ala324=) c.2799C>T (p.Ala933=) c.2226C>T (p.Ala742=) c.2151C>T (p.Ala717=) c.828C>T (p.Ala276=) | |
| 3 | g.38894944G>C | CA433336242 | SCN11A | c.2424C>G (p.Ala808=) c.2244C>G (p.Ala748=) c.2468C>G (n.2468C>G) c.2043C>G (p.Ala681=) c.1761C>G (p.Ala587=) c.972C>G (p.Ala324=) c.2799C>G (p.Ala933=) c.2226C>G (p.Ala742=) c.2151C>G (p.Ala717=) c.828C>G (p.Ala276=) | |
| 3 | g.38894944G>T | CA433336243 | SCN11A | c.2424C>A (p.Ala808=) c.2244C>A (p.Ala748=) c.2468C>A (n.2468C>A) c.2043C>A (p.Ala681=) c.1761C>A (p.Ala587=) c.972C>A (p.Ala324=) c.2799C>A (p.Ala933=) c.2226C>A (p.Ala742=) c.2151C>A (p.Ala717=) c.828C>A (p.Ala276=) | |
| 3 | g.38894945G>A | CA352175177 | SCN11A | c.2423C>T (p.Ala808Val) c.2243C>T (p.Ala748Val) c.2467C>T (n.2467C>T) c.2042C>T (p.Ala681Val) c.1760C>T (p.Ala587Val) c.971C>T (p.Ala324Val) c.2798C>T (p.Ala933Val) c.2225C>T (p.Ala742Val) c.2150C>T (p.Ala717Val) c.827C>T (p.Ala276Val) | gnomAD v4 |
| 3 | g.38894945G>C | CA145435 | SCN11A | c.2423C>G (p.Ala808Gly) c.2243C>G (p.Ala748Gly) c.2467C>G (n.2467C>G) c.2042C>G (p.Ala681Gly) c.1760C>G (p.Ala587Gly) c.971C>G (p.Ala324Gly) c.2798C>G (p.Ala933Gly) c.2225C>G (p.Ala742Gly) c.2150C>G (p.Ala717Gly) c.827C>G (p.Ala276Gly) | ClinVar dbSNP |
| 3 | g.38894945G= | CA1358718304 | SCN11A | c.2423C= (p.Ala808=) c.2243C= (p.Ala748=) c.2467C= (n.2467C=) c.2042C= (p.Ala681=) c.1760C= (p.Ala587=) c.971C= (p.Ala324=) c.2798C= (p.Ala933=) c.2225C= (p.Ala742=) c.2150C= (p.Ala717=) c.827C= (p.Ala276=) | |
| 3 | g.38894945G>T | CA352175178 | SCN11A | c.2423C>A (p.Ala808Asp) c.2243C>A (p.Ala748Asp) c.2467C>A (n.2467C>A) c.2042C>A (p.Ala681Asp) c.1760C>A (p.Ala587Asp) c.971C>A (p.Ala324Asp) c.2798C>A (p.Ala933Asp) c.2225C>A (p.Ala742Asp) c.2150C>A (p.Ala717Asp) c.827C>A (p.Ala276Asp) | ClinVar dbSNP |
| 3 | g.38894946C>A | CA352175181 | SCN11A | c.2422G>T (p.Ala808Ser) c.2242G>T (p.Ala748Ser) c.2466G>T (n.2466G>T) c.2041G>T (p.Ala681Ser) c.1759G>T (p.Ala587Ser) c.970G>T (p.Ala324Ser) c.2797G>T (p.Ala933Ser) c.2224G>T (p.Ala742Ser) c.2149G>T (p.Ala717Ser) c.826G>T (p.Ala276Ser) | gnomAD v4 |
| 3 | g.38894946C>G | CA352175179 | SCN11A | c.2422G>C (p.Ala808Pro) c.2242G>C (p.Ala748Pro) c.2466G>C (n.2466G>C) c.2041G>C (p.Ala681Pro) c.1759G>C (p.Ala587Pro) c.970G>C (p.Ala324Pro) c.2797G>C (p.Ala933Pro) c.2224G>C (p.Ala742Pro) c.2149G>C (p.Ala717Pro) c.826G>C (p.Ala276Pro) | |
| 3 | g.38894946C>T | CA352175180 | SCN11A | c.2422G>A (p.Ala808Thr) c.2242G>A (p.Ala748Thr) c.2466G>A (n.2466G>A) c.2041G>A (p.Ala681Thr) c.1759G>A (p.Ala587Thr) c.970G>A (p.Ala324Thr) c.2797G>A (p.Ala933Thr) c.2224G>A (p.Ala742Thr) c.2149G>A (p.Ala717Thr) c.826G>A (p.Ala276Thr) | |
| 3 | g.38894947A>C | CA352175182 | SCN11A | c.2421T>G (p.Ile807Met) c.2241T>G (p.Ile747Met) c.2465T>G (n.2465T>G) c.2040T>G (p.Ile680Met) c.1758T>G (p.Ile586Met) c.969T>G (p.Ile323Met) c.2796T>G (p.Ile932Met) c.2223T>G (p.Ile741Met) c.2148T>G (p.Ile716Met) c.825T>G (p.Ile275Met) | |
| 3 | g.38894947A>G | CA433336245 | SCN11A | c.2421T>C (p.Ile807=) c.2241T>C (p.Ile747=) c.2465T>C (n.2465T>C) c.2040T>C (p.Ile680=) c.1758T>C (p.Ile586=) c.969T>C (p.Ile323=) c.2796T>C (p.Ile932=) c.2223T>C (p.Ile741=) c.2148T>C (p.Ile716=) c.825T>C (p.Ile275=) | |
| 3 | g.38894947A>T | CA433336246 | SCN11A | c.2421T>A (p.Ile807=) c.2241T>A (p.Ile747=) c.2465T>A (n.2465T>A) c.2040T>A (p.Ile680=) c.1758T>A (p.Ile586=) c.969T>A (p.Ile323=) c.2796T>A (p.Ile932=) c.2223T>A (p.Ile741=) c.2148T>A (p.Ile716=) c.825T>A (p.Ile275=) | gnomAD v4 |
| 3 | g.38894948A>C | CA352175183 | SCN11A | c.2420T>G (p.Ile807Ser) c.2240T>G (p.Ile747Ser) c.2464T>G (n.2464T>G) c.2039T>G (p.Ile680Ser) c.1757T>G (p.Ile586Ser) c.968T>G (p.Ile323Ser) c.2795T>G (p.Ile932Ser) c.2222T>G (p.Ile741Ser) c.2147T>G (p.Ile716Ser) c.824T>G (p.Ile275Ser) | |
| 3 | g.38894948A>G | CA352175184 | SCN11A | c.2420T>C (p.Ile807Thr) c.2240T>C (p.Ile747Thr) c.2464T>C (n.2464T>C) c.2039T>C (p.Ile680Thr) c.1757T>C (p.Ile586Thr) c.968T>C (p.Ile323Thr) c.2795T>C (p.Ile932Thr) c.2222T>C (p.Ile741Thr) c.2147T>C (p.Ile716Thr) c.824T>C (p.Ile275Thr) | |
| 3 | g.38894948A>T | CA352175185 | SCN11A | c.2420T>A (p.Ile807Asn) c.2240T>A (p.Ile747Asn) c.2464T>A (n.2464T>A) c.2039T>A (p.Ile680Asn) c.1757T>A (p.Ile586Asn) c.968T>A (p.Ile323Asn) c.2795T>A (p.Ile932Asn) c.2222T>A (p.Ile741Asn) c.2147T>A (p.Ile716Asn) c.824T>A (p.Ile275Asn) | |
| 3 | g.38894949T>A | CA352175186 | SCN11A | c.2419A>T (p.Ile807Phe) c.2239A>T (p.Ile747Phe) c.2463A>T (n.2463A>T) c.2038A>T (p.Ile680Phe) c.1756A>T (p.Ile586Phe) c.967A>T (p.Ile323Phe) c.2794A>T (p.Ile932Phe) c.2221A>T (p.Ile741Phe) c.2146A>T (p.Ile716Phe) c.823A>T (p.Ile275Phe) | |
| 3 | g.38894949T>C | CA72997931 | SCN11A | c.2419A>G (p.Ile807Val) c.2239A>G (p.Ile747Val) c.2463A>G (n.2463A>G) c.2038A>G (p.Ile680Val) c.1756A>G (p.Ile586Val) c.967A>G (p.Ile323Val) c.2794A>G (p.Ile932Val) c.2221A>G (p.Ile741Val) c.2146A>G (p.Ile716Val) c.823A>G (p.Ile275Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38894949T>G | CA352175187 | SCN11A | c.2419A>C (p.Ile807Leu) c.2239A>C (p.Ile747Leu) c.2463A>C (n.2463A>C) c.2038A>C (p.Ile680Leu) c.1756A>C (p.Ile586Leu) c.967A>C (p.Ile323Leu) c.2794A>C (p.Ile932Leu) c.2221A>C (p.Ile741Leu) c.2146A>C (p.Ile716Leu) c.823A>C (p.Ile275Leu) | |
| 3 | g.38894949T= | CA1358718306 | SCN11A | c.2419A= (p.Ile807=) c.2239A= (p.Ile747=) c.2463A= (n.2463A=) c.2038A= (p.Ile680=) c.1756A= (p.Ile586=) c.967A= (p.Ile323=) c.2794A= (p.Ile932=) c.2221A= (p.Ile741=) c.2146A= (p.Ile716=) c.823A= (p.Ile275=) | |
| 3 | g.38894949_38894952delinsTGAA | CA1358718305 | SCN11A | c.2416_2419delinsTTCA (p.Phe806=) c.2236_2239delinsTTCA (p.Phe746=) c.2460_2463delinsTTCA (n.2460_2463delinsTTCA) c.2035_2038delinsTTCA (p.Phe679=) c.1753_1756delinsTTCA (p.Phe585=) c.964_967delinsTTCA (p.Phe322=) c.2791_2794delinsTTCA (p.Phe931=) c.2218_2221delinsTTCA (p.Phe740=) c.2143_2146delinsTTCA (p.Phe715=) c.820_823delinsTTCA (p.Phe274=) | |
| 3 | g.38894950G>A | CA433336247 | SCN11A | c.2418C>T (p.Phe806=) c.2238C>T (p.Phe746=) c.2462C>T (n.2462C>T) c.2037C>T (p.Phe679=) c.1755C>T (p.Phe585=) c.966C>T (p.Phe322=) c.2793C>T (p.Phe931=) c.2220C>T (p.Phe740=) c.2145C>T (p.Phe715=) c.822C>T (p.Phe274=) | |
| 3 | g.38894950G>C | CA352175188 | SCN11A | c.2418C>G (p.Phe806Leu) c.2238C>G (p.Phe746Leu) c.2462C>G (n.2462C>G) c.2037C>G (p.Phe679Leu) c.1755C>G (p.Phe585Leu) c.966C>G (p.Phe322Leu) c.2793C>G (p.Phe931Leu) c.2220C>G (p.Phe740Leu) c.2145C>G (p.Phe715Leu) c.822C>G (p.Phe274Leu) | |
| 3 | g.38894950G>T | CA352175189 | SCN11A | c.2418C>A (p.Phe806Leu) c.2238C>A (p.Phe746Leu) c.2462C>A (n.2462C>A) c.2037C>A (p.Phe679Leu) c.1755C>A (p.Phe585Leu) c.966C>A (p.Phe322Leu) c.2793C>A (p.Phe931Leu) c.2220C>A (p.Phe740Leu) c.2145C>A (p.Phe715Leu) c.822C>A (p.Phe274Leu) | |
| 3 | g.38894952_38894954del | CA2322037 | SCN11A | c.2416_2418del (p.Phe806del) c.2236_2238del (p.Phe746del) c.2460_2462del (n.2460_2462del) c.2035_2037del (p.Phe679del) c.1753_1755del (p.Phe585del) c.964_966del (p.Phe322del) c.2791_2793del (p.Phe931del) c.2218_2220del (p.Phe740del) c.2143_2145del (p.Phe715del) c.820_822del (p.Phe274del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38894951A>C | CA352175192 | SCN11A | c.2417T>G (p.Phe806Cys) c.2237T>G (p.Phe746Cys) c.2461T>G (n.2461T>G) c.2036T>G (p.Phe679Cys) c.1754T>G (p.Phe585Cys) c.965T>G (p.Phe322Cys) c.2792T>G (p.Phe931Cys) c.2219T>G (p.Phe740Cys) c.2144T>G (p.Phe715Cys) c.821T>G (p.Phe274Cys) | |
| 3 | g.38894951A>G | CA352175191 | SCN11A | c.2417T>C (p.Phe806Ser) c.2237T>C (p.Phe746Ser) c.2461T>C (n.2461T>C) c.2036T>C (p.Phe679Ser) c.1754T>C (p.Phe585Ser) c.965T>C (p.Phe322Ser) c.2792T>C (p.Phe931Ser) c.2219T>C (p.Phe740Ser) c.2144T>C (p.Phe715Ser) c.821T>C (p.Phe274Ser) | |
| 3 | g.38894951A>T | CA352175190 | SCN11A | c.2417T>A (p.Phe806Tyr) c.2237T>A (p.Phe746Tyr) c.2461T>A (n.2461T>A) c.2036T>A (p.Phe679Tyr) c.1754T>A (p.Phe585Tyr) c.965T>A (p.Phe322Tyr) c.2792T>A (p.Phe931Tyr) c.2219T>A (p.Phe740Tyr) c.2144T>A (p.Phe715Tyr) c.821T>A (p.Phe274Tyr) | |
| 3 | g.38894952A>C | CA352175193 | SCN11A | c.2416T>G (p.Phe806Val) c.2236T>G (p.Phe746Val) c.2460T>G (n.2460T>G) c.2035T>G (p.Phe679Val) c.1753T>G (p.Phe585Val) c.964T>G (p.Phe322Val) c.2791T>G (p.Phe931Val) c.2218T>G (p.Phe740Val) c.2143T>G (p.Phe715Val) c.820T>G (p.Phe274Val) | |
| 3 | g.38894952A>G | CA352175194 | SCN11A | c.2416T>C (p.Phe806Leu) c.2236T>C (p.Phe746Leu) c.2460T>C (n.2460T>C) c.2035T>C (p.Phe679Leu) c.1753T>C (p.Phe585Leu) c.964T>C (p.Phe322Leu) c.2791T>C (p.Phe931Leu) c.2218T>C (p.Phe740Leu) c.2143T>C (p.Phe715Leu) c.820T>C (p.Phe274Leu) | |
| 3 | g.38894952A>T | CA352175195 | SCN11A | c.2416T>A (p.Phe806Ile) c.2236T>A (p.Phe746Ile) c.2460T>A (n.2460T>A) c.2035T>A (p.Phe679Ile) c.1753T>A (p.Phe585Ile) c.964T>A (p.Phe322Ile) c.2791T>A (p.Phe931Ile) c.2218T>A (p.Phe740Ile) c.2143T>A (p.Phe715Ile) c.820T>A (p.Phe274Ile) | |
| 3 | g.38894953G>A | CA433336249 | SCN11A | c.2415C>T (p.Leu805=) c.2235C>T (p.Leu745=) c.2459C>T (n.2459C>T) c.2034C>T (p.Leu678=) c.1752C>T (p.Leu584=) c.963C>T (p.Leu321=) c.2790C>T (p.Leu930=) c.2217C>T (p.Leu739=) c.2142C>T (p.Leu714=) c.819C>T (p.Leu273=) | |
| 3 | g.38894953G>C | CA433336250 | SCN11A | c.2415C>G (p.Leu805=) c.2235C>G (p.Leu745=) c.2459C>G (n.2459C>G) c.2034C>G (p.Leu678=) c.1752C>G (p.Leu584=) c.963C>G (p.Leu321=) c.2790C>G (p.Leu930=) c.2217C>G (p.Leu739=) c.2142C>G (p.Leu714=) c.819C>G (p.Leu273=) | |
| 3 | g.38894953G>T | CA433336248 | SCN11A | c.2415C>A (p.Leu805=) c.2235C>A (p.Leu745=) c.2459C>A (n.2459C>A) c.2034C>A (p.Leu678=) c.1752C>A (p.Leu584=) c.963C>A (p.Leu321=) c.2790C>A (p.Leu930=) c.2217C>A (p.Leu739=) c.2142C>A (p.Leu714=) c.819C>A (p.Leu273=) | |
| 3 | g.38894954A>C | CA352175196 | SCN11A | c.2414T>G (p.Leu805Arg) c.2234T>G (p.Leu745Arg) c.2458T>G (n.2458T>G) c.2033T>G (p.Leu678Arg) c.1751T>G (p.Leu584Arg) c.962T>G (p.Leu321Arg) c.2789T>G (p.Leu930Arg) c.2216T>G (p.Leu739Arg) c.2141T>G (p.Leu714Arg) c.818T>G (p.Leu273Arg) | |
| 3 | g.38894954A>G | CA352175197 | SCN11A | c.2414T>C (p.Leu805Pro) c.2234T>C (p.Leu745Pro) c.2458T>C (n.2458T>C) c.2033T>C (p.Leu678Pro) c.1751T>C (p.Leu584Pro) c.962T>C (p.Leu321Pro) c.2789T>C (p.Leu930Pro) c.2216T>C (p.Leu739Pro) c.2141T>C (p.Leu714Pro) c.818T>C (p.Leu273Pro) | |
| 3 | g.38894954A>T | CA352175198 | SCN11A | c.2414T>A (p.Leu805His) c.2234T>A (p.Leu745His) c.2458T>A (n.2458T>A) c.2033T>A (p.Leu678His) c.1751T>A (p.Leu584His) c.962T>A (p.Leu321His) c.2789T>A (p.Leu930His) c.2216T>A (p.Leu739His) c.2141T>A (p.Leu714His) c.818T>A (p.Leu273His) | |
| 3 | g.38894955G>A | CA2322038 | SCN11A | c.2413C>T (p.Leu805Phe) c.2233C>T (p.Leu745Phe) c.2457C>T (n.2457C>T) c.2032C>T (p.Leu678Phe) c.1750C>T (p.Leu584Phe) c.961C>T (p.Leu321Phe) c.2788C>T (p.Leu930Phe) c.2215C>T (p.Leu739Phe) c.2140C>T (p.Leu714Phe) c.817C>T (p.Leu273Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38894955G>C | CA352175200 | SCN11A | c.2413C>G (p.Leu805Val) c.2233C>G (p.Leu745Val) c.2457C>G (n.2457C>G) c.2032C>G (p.Leu678Val) c.1750C>G (p.Leu584Val) c.961C>G (p.Leu321Val) c.2788C>G (p.Leu930Val) c.2215C>G (p.Leu739Val) c.2140C>G (p.Leu714Val) c.817C>G (p.Leu273Val) | gnomAD v4 |
| 3 | g.38894955G= | CA1358718307 | SCN11A | c.2413C= (p.Leu805=) c.2233C= (p.Leu745=) c.2457C= (n.2457C=) c.2032C= (p.Leu678=) c.1750C= (p.Leu584=) c.961C= (p.Leu321=) c.2788C= (p.Leu930=) c.2215C= (p.Leu739=) c.2140C= (p.Leu714=) c.817C= (p.Leu273=) | |
| 3 | g.38894955G>T | CA352175199 | SCN11A | c.2413C>A (p.Leu805Ile) c.2233C>A (p.Leu745Ile) c.2457C>A (n.2457C>A) c.2032C>A (p.Leu678Ile) c.1750C>A (p.Leu584Ile) c.961C>A (p.Leu321Ile) c.2788C>A (p.Leu930Ile) c.2215C>A (p.Leu739Ile) c.2140C>A (p.Leu714Ile) c.817C>A (p.Leu273Ile) | |
| 3 | g.38894956G>A | CA2322039 | SCN11A | c.2412C>T (p.Asn804=) c.2232C>T (p.Asn744=) c.2456C>T (n.2456C>T) c.2031C>T (p.Asn677=) c.1749C>T (p.Asn583=) c.960C>T (p.Asn320=) c.2787C>T (p.Asn929=) c.2214C>T (p.Asn738=) c.2139C>T (p.Asn713=) c.816C>T (p.Asn272=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38894956G>C | CA352175201 | SCN11A | c.2412C>G (p.Asn804Lys) c.2232C>G (p.Asn744Lys) c.2456C>G (n.2456C>G) c.2031C>G (p.Asn677Lys) c.1749C>G (p.Asn583Lys) c.960C>G (p.Asn320Lys) c.2787C>G (p.Asn929Lys) c.2214C>G (p.Asn738Lys) c.2139C>G (p.Asn713Lys) c.816C>G (p.Asn272Lys) | |
| 3 | g.38894956G= | CA1358718308 | SCN11A | c.2412C= (p.Asn804=) c.2232C= (p.Asn744=) c.2456C= (n.2456C=) c.2031C= (p.Asn677=) c.1749C= (p.Asn583=) c.960C= (p.Asn320=) c.2787C= (p.Asn929=) c.2214C= (p.Asn738=) c.2139C= (p.Asn713=) c.816C= (p.Asn272=) | |
| 3 | g.38894956G>T | CA352175202 | SCN11A | c.2412C>A (p.Asn804Lys) c.2232C>A (p.Asn744Lys) c.2456C>A (n.2456C>A) c.2031C>A (p.Asn677Lys) c.1749C>A (p.Asn583Lys) c.960C>A (p.Asn320Lys) c.2787C>A (p.Asn929Lys) c.2214C>A (p.Asn738Lys) c.2139C>A (p.Asn713Lys) c.816C>A (p.Asn272Lys) | |
| 3 | g.38894957T>A | CA352175203 | SCN11A | c.2411A>T (p.Asn804Ile) c.2231A>T (p.Asn744Ile) c.2455A>T (n.2455A>T) c.2030A>T (p.Asn677Ile) c.1748A>T (p.Asn583Ile) c.959A>T (p.Asn320Ile) c.2786A>T (p.Asn929Ile) c.2213A>T (p.Asn738Ile) c.2138A>T (p.Asn713Ile) c.815A>T (p.Asn272Ile) | dbSNP |
| 3 | g.38894957T>C | CA352175204 | SCN11A | c.2411A>G (p.Asn804Ser) c.2231A>G (p.Asn744Ser) c.2455A>G (n.2455A>G) c.2030A>G (p.Asn677Ser) c.1748A>G (p.Asn583Ser) c.959A>G (p.Asn320Ser) c.2786A>G (p.Asn929Ser) c.2213A>G (p.Asn738Ser) c.2138A>G (p.Asn713Ser) c.815A>G (p.Asn272Ser) | COSMIC |
| 3 | g.38894957T>G | CA352175205 | SCN11A | c.2411A>C (p.Asn804Thr) c.2231A>C (p.Asn744Thr) c.2455A>C (n.2455A>C) c.2030A>C (p.Asn677Thr) c.1748A>C (p.Asn583Thr) c.959A>C (p.Asn320Thr) c.2786A>C (p.Asn929Thr) c.2213A>C (p.Asn738Thr) c.2138A>C (p.Asn713Thr) c.815A>C (p.Asn272Thr) | |
| 3 | g.38894957T= | CA1358718309 | SCN11A | c.2411A= (p.Asn804=) c.2231A= (p.Asn744=) c.2455A= (n.2455A=) c.2030A= (p.Asn677=) c.1748A= (p.Asn583=) c.959A= (p.Asn320=) c.2786A= (p.Asn929=) c.2213A= (p.Asn738=) c.2138A= (p.Asn713=) c.815A= (p.Asn272=) | |
| 3 | g.38894958T>A | CA352175206 | SCN11A | c.2410A>T (p.Asn804Tyr) c.2230A>T (p.Asn744Tyr) c.2454A>T (n.2454A>T) c.2029A>T (p.Asn677Tyr) c.1747A>T (p.Asn583Tyr) c.958A>T (p.Asn320Tyr) c.2785A>T (p.Asn929Tyr) c.2212A>T (p.Asn738Tyr) c.2137A>T (p.Asn713Tyr) c.814A>T (p.Asn272Tyr) | |
| 3 | g.38894958T>C | CA352175208 | SCN11A | c.2410A>G (p.Asn804Asp) c.2230A>G (p.Asn744Asp) c.2454A>G (n.2454A>G) c.2029A>G (p.Asn677Asp) c.1747A>G (p.Asn583Asp) c.958A>G (p.Asn320Asp) c.2785A>G (p.Asn929Asp) c.2212A>G (p.Asn738Asp) c.2137A>G (p.Asn713Asp) c.814A>G (p.Asn272Asp) | |
| 3 | g.38894958T>G | CA352175207 | SCN11A | c.2410A>C (p.Asn804His) c.2230A>C (p.Asn744His) c.2454A>C (n.2454A>C) c.2029A>C (p.Asn677His) c.1747A>C (p.Asn583His) c.958A>C (p.Asn320His) c.2785A>C (p.Asn929His) c.2212A>C (p.Asn738His) c.2137A>C (p.Asn713His) c.814A>C (p.Asn272His) | |
| 3 | g.38894959G>A | CA433336251 | SCN11A | c.2409C>T (p.Leu803=) c.2229C>T (p.Leu743=) c.2453C>T (n.2453C>T) c.2028C>T (p.Leu676=) c.1746C>T (p.Leu582=) c.957C>T (p.Leu319=) c.2784C>T (p.Leu928=) c.2211C>T (p.Leu737=) c.2136C>T (p.Leu712=) c.813C>T (p.Leu271=) | |
| 3 | g.38894959G>C | CA433336253 | SCN11A | c.2409C>G (p.Leu803=) c.2229C>G (p.Leu743=) c.2453C>G (n.2453C>G) c.2028C>G (p.Leu676=) c.1746C>G (p.Leu582=) c.957C>G (p.Leu319=) c.2784C>G (p.Leu928=) c.2211C>G (p.Leu737=) c.2136C>G (p.Leu712=) c.813C>G (p.Leu271=) | |
| 3 | g.38894959G= | CA1358718310 | SCN11A | c.2409C= (p.Leu803=) c.2229C= (p.Leu743=) c.2453C= (n.2453C=) c.2028C= (p.Leu676=) c.1746C= (p.Leu582=) c.957C= (p.Leu319=) c.2784C= (p.Leu928=) c.2211C= (p.Leu737=) c.2136C= (p.Leu712=) c.813C= (p.Leu271=) | |
| 3 | g.38894959G>T | CA433336252 | SCN11A | c.2409C>A (p.Leu803=) c.2229C>A (p.Leu743=) c.2453C>A (n.2453C>A) c.2028C>A (p.Leu676=) c.1746C>A (p.Leu582=) c.957C>A (p.Leu319=) c.2784C>A (p.Leu928=) c.2211C>A (p.Leu737=) c.2136C>A (p.Leu712=) c.813C>A (p.Leu271=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38894960A>C | CA352175209 | SCN11A | c.2408T>G (p.Leu803Arg) c.2228T>G (p.Leu743Arg) c.2452T>G (n.2452T>G) c.2027T>G (p.Leu676Arg) c.1745T>G (p.Leu582Arg) c.956T>G (p.Leu319Arg) c.2783T>G (p.Leu928Arg) c.2210T>G (p.Leu737Arg) c.2135T>G (p.Leu712Arg) c.812T>G (p.Leu271Arg) | |
| 3 | g.38894960A>G | CA352175210 | SCN11A | c.2408T>C (p.Leu803Pro) c.2228T>C (p.Leu743Pro) c.2452T>C (n.2452T>C) c.2027T>C (p.Leu676Pro) c.1745T>C (p.Leu582Pro) c.956T>C (p.Leu319Pro) c.2783T>C (p.Leu928Pro) c.2210T>C (p.Leu737Pro) c.2135T>C (p.Leu712Pro) c.812T>C (p.Leu271Pro) | |
| 3 | g.38894960A>T | CA352175211 | SCN11A | c.2408T>A (p.Leu803His) c.2228T>A (p.Leu743His) c.2452T>A (n.2452T>A) c.2027T>A (p.Leu676His) c.1745T>A (p.Leu582His) c.956T>A (p.Leu319His) c.2783T>A (p.Leu928His) c.2210T>A (p.Leu737His) c.2135T>A (p.Leu712His) c.812T>A (p.Leu271His) | |
| 3 | g.38894961G>A | CA2322040 | SCN11A | c.2407C>T (p.Leu803Phe) c.2227C>T (p.Leu743Phe) c.2451C>T (n.2451C>T) c.2026C>T (p.Leu676Phe) c.1744C>T (p.Leu582Phe) c.955C>T (p.Leu319Phe) c.2782C>T (p.Leu928Phe) c.2209C>T (p.Leu737Phe) c.2134C>T (p.Leu712Phe) c.811C>T (p.Leu271Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38894961G>C | CA352175212 | SCN11A | c.2407C>G (p.Leu803Val) c.2227C>G (p.Leu743Val) c.2451C>G (n.2451C>G) c.2026C>G (p.Leu676Val) c.1744C>G (p.Leu582Val) c.955C>G (p.Leu319Val) c.2782C>G (p.Leu928Val) c.2209C>G (p.Leu737Val) c.2134C>G (p.Leu712Val) c.811C>G (p.Leu271Val) | |
| 3 | g.38894961G= | CA1358718311 | SCN11A | c.2407C= (p.Leu803=) c.2227C= (p.Leu743=) c.2451C= (n.2451C=) c.2026C= (p.Leu676=) c.1744C= (p.Leu582=) c.955C= (p.Leu319=) c.2782C= (p.Leu928=) c.2209C= (p.Leu737=) c.2134C= (p.Leu712=) c.811C= (p.Leu271=) | |
| 3 | g.38894961G>T | CA352175213 | SCN11A | c.2407C>A (p.Leu803Ile) c.2227C>A (p.Leu743Ile) c.2451C>A (n.2451C>A) c.2026C>A (p.Leu676Ile) c.1744C>A (p.Leu582Ile) c.955C>A (p.Leu319Ile) c.2782C>A (p.Leu928Ile) c.2209C>A (p.Leu737Ile) c.2134C>A (p.Leu712Ile) c.811C>A (p.Leu271Ile) | |
| 3 | g.38894962C>A | CA433336254 | SCN11A | c.2406G>T (p.Val802=) c.2226G>T (p.Val742=) c.2450G>T (n.2450G>T) c.2025G>T (p.Val675=) c.1743G>T (p.Val581=) c.954G>T (p.Val318=) c.2781G>T (p.Val927=) c.2208G>T (p.Val736=) c.2133G>T (p.Val711=) c.810G>T (p.Val270=) | |
| 3 | g.38894962C>G | CA433336255 | SCN11A | c.2406G>C (p.Val802=) c.2226G>C (p.Val742=) c.2450G>C (n.2450G>C) c.2025G>C (p.Val675=) c.1743G>C (p.Val581=) c.954G>C (p.Val318=) c.2781G>C (p.Val927=) c.2208G>C (p.Val736=) c.2133G>C (p.Val711=) c.810G>C (p.Val270=) | |
| 3 | g.38894962C>T | CA433336256 | SCN11A | c.2406G>A (p.Val802=) c.2226G>A (p.Val742=) c.2450G>A (n.2450G>A) c.2025G>A (p.Val675=) c.1743G>A (p.Val581=) c.954G>A (p.Val318=) c.2781G>A (p.Val927=) c.2208G>A (p.Val736=) c.2133G>A (p.Val711=) c.810G>A (p.Val270=) | |
| 3 | g.38894963A>C | CA352175214 | SCN11A | c.2405T>G (p.Val802Gly) c.2225T>G (p.Val742Gly) c.2449T>G (n.2449T>G) c.2024T>G (p.Val675Gly) c.1742T>G (p.Val581Gly) c.953T>G (p.Val318Gly) c.2780T>G (p.Val927Gly) c.2207T>G (p.Val736Gly) c.2132T>G (p.Val711Gly) c.809T>G (p.Val270Gly) | |
| 3 | g.38894963A>G | CA352175215 | SCN11A | c.2405T>C (p.Val802Ala) c.2225T>C (p.Val742Ala) c.2449T>C (n.2449T>C) c.2024T>C (p.Val675Ala) c.1742T>C (p.Val581Ala) c.953T>C (p.Val318Ala) c.2780T>C (p.Val927Ala) c.2207T>C (p.Val736Ala) c.2132T>C (p.Val711Ala) c.809T>C (p.Val270Ala) | |
| 3 | g.38894963A>T | CA352175216 | SCN11A | c.2405T>A (p.Val802Glu) c.2225T>A (p.Val742Glu) c.2449T>A (n.2449T>A) c.2024T>A (p.Val675Glu) c.1742T>A (p.Val581Glu) c.953T>A (p.Val318Glu) c.2780T>A (p.Val927Glu) c.2207T>A (p.Val736Glu) c.2132T>A (p.Val711Glu) c.809T>A (p.Val270Glu) | |
| 3 | g.38894964C>A | CA352175217 | SCN11A | c.2404G>T (p.Val802Leu) c.2224G>T (p.Val742Leu) c.2448G>T (n.2448G>T) c.2023G>T (p.Val675Leu) c.1741G>T (p.Val581Leu) c.952G>T (p.Val318Leu) c.2779G>T (p.Val927Leu) c.2206G>T (p.Val736Leu) c.2131G>T (p.Val711Leu) c.808G>T (p.Val270Leu) | |
| 3 | g.38894964C>G | CA352175218 | SCN11A | c.2404G>C (p.Val802Leu) c.2224G>C (p.Val742Leu) c.2448G>C (n.2448G>C) c.2023G>C (p.Val675Leu) c.1741G>C (p.Val581Leu) c.952G>C (p.Val318Leu) c.2779G>C (p.Val927Leu) c.2206G>C (p.Val736Leu) c.2131G>C (p.Val711Leu) c.808G>C (p.Val270Leu) | |
| 3 | g.38894964C>T | CA352175219 | SCN11A | c.2404G>A (p.Val802Met) c.2224G>A (p.Val742Met) c.2448G>A (n.2448G>A) c.2023G>A (p.Val675Met) c.1741G>A (p.Val581Met) c.952G>A (p.Val318Met) c.2779G>A (p.Val927Met) c.2206G>A (p.Val736Met) c.2131G>A (p.Val711Met) c.808G>A (p.Val270Met) | |
| 3 | g.38894965C>A | CA352175220 | SCN11A | c.2404-1G>T (n.2404-1G>T) c.2224-1G>T (n.2224-1G>T) c.2448-1G>T (n.2448-1G>T) c.2023-1G>T (n.2023-1G>T) c.1741-1G>T (n.1741-1G>T) c.952-1G>T (n.952-1G>T) c.2779-1G>T (n.2779-1G>T) c.2206-1G>T (n.2206-1G>T) c.2131-1G>T (n.2131-1G>T) c.808-1G>T (n.808-1G>T) | |
| 3 | g.38894965C>G | CA352175222 | SCN11A | c.2404-1G>C (n.2404-1G>C) c.2224-1G>C (n.2224-1G>C) c.2448-1G>C (n.2448-1G>C) c.2023-1G>C (n.2023-1G>C) c.1741-1G>C (n.1741-1G>C) c.952-1G>C (n.952-1G>C) c.2779-1G>C (n.2779-1G>C) c.2206-1G>C (n.2206-1G>C) c.2131-1G>C (n.2131-1G>C) c.808-1G>C (n.808-1G>C) | |
| 3 | g.38894965C>T | CA352175221 | SCN11A | c.2404-1G>A (n.2404-1G>A) c.2224-1G>A (n.2224-1G>A) c.2448-1G>A (n.2448-1G>A) c.2023-1G>A (n.2023-1G>A) c.1741-1G>A (n.1741-1G>A) c.952-1G>A (n.952-1G>A) c.2779-1G>A (n.2779-1G>A) c.2206-1G>A (n.2206-1G>A) c.2131-1G>A (n.2131-1G>A) c.808-1G>A (n.808-1G>A) | |
| 3 | g.38894965_38894966delinsCT | CA1358718312 | SCN11A | c.2404-2_2404-1delinsAG (n.2404-2_2404-1delinsAG) c.2224-2_2224-1delinsAG (n.2224-2_2224-1delinsAG) c.2448-2_2448-1delinsAG (n.2448-2_2448-1delinsAG) c.2023-2_2023-1delinsAG (n.2023-2_2023-1delinsAG) c.1741-2_1741-1delinsAG (n.1741-2_1741-1delinsAG) c.952-2_952-1delinsAG (n.952-2_952-1delinsAG) c.2779-2_2779-1delinsAG (n.2779-2_2779-1delinsAG) c.2206-2_2206-1delinsAG (n.2206-2_2206-1delinsAG) c.2131-2_2131-1delinsAG (n.2131-2_2131-1delinsAG) c.808-2_808-1delinsAG (n.808-2_808-1delinsAG) | |
| 3 | g.38894966del | CA542615998 | SCN11A | c.2404-2del (n.2404-2del) c.2224-2del (n.2224-2del) c.2448-2del (n.2448-2del) c.2023-2del (n.2023-2del) c.1741-2del (n.1741-2del) c.952-2del (n.952-2del) c.2779-2del (n.2779-2del) c.2206-2del (n.2206-2del) c.2131-2del (n.2131-2del) c.808-2del (n.808-2del) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38894966T>A | CA352175223 | SCN11A | c.2404-2A>T (n.2404-2A>T) c.2224-2A>T (n.2224-2A>T) c.2448-2A>T (n.2448-2A>T) c.2023-2A>T (n.2023-2A>T) c.1741-2A>T (n.1741-2A>T) c.952-2A>T (n.952-2A>T) c.2779-2A>T (n.2779-2A>T) c.2206-2A>T (n.2206-2A>T) c.2131-2A>T (n.2131-2A>T) c.808-2A>T (n.808-2A>T) | |
| 3 | g.38894966T>C | CA2322041 | SCN11A | c.2404-2A>G (n.2404-2A>G) c.2224-2A>G (n.2224-2A>G) c.2448-2A>G (n.2448-2A>G) c.2023-2A>G (n.2023-2A>G) c.1741-2A>G (n.1741-2A>G) c.952-2A>G (n.952-2A>G) c.2779-2A>G (n.2779-2A>G) c.2206-2A>G (n.2206-2A>G) c.2131-2A>G (n.2131-2A>G) c.808-2A>G (n.808-2A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38894966T>G | CA352175224 | SCN11A | c.2404-2A>C (n.2404-2A>C) c.2224-2A>C (n.2224-2A>C) c.2448-2A>C (n.2448-2A>C) c.2023-2A>C (n.2023-2A>C) c.1741-2A>C (n.1741-2A>C) c.952-2A>C (n.952-2A>C) c.2779-2A>C (n.2779-2A>C) c.2206-2A>C (n.2206-2A>C) c.2131-2A>C (n.2131-2A>C) c.808-2A>C (n.808-2A>C) | |
| 3 | g.38894966T= | CA1358718313 | SCN11A | c.2404-2A= (n.2404-2A=) c.2224-2A= (n.2224-2A=) c.2448-2A= (n.2448-2A=) c.2023-2A= (n.2023-2A=) c.1741-2A= (n.1741-2A=) c.952-2A= (n.952-2A=) c.2779-2A= (n.2779-2A=) c.2206-2A= (n.2206-2A=) c.2131-2A= (n.2131-2A=) c.808-2A= (n.808-2A=) | |
| 3 | g.38894968G= | CA1358718314 | SCN11A | c.2404-4C= (n.2404-4C=) c.2224-4C= (n.2224-4C=) c.2448-4C= (n.2448-4C=) c.2023-4C= (n.2023-4C=) c.1741-4C= (n.1741-4C=) c.952-4C= (n.952-4C=) c.2779-4C= (n.2779-4C=) c.2206-4C= (n.2206-4C=) c.2131-4C= (n.2131-4C=) c.808-4C= (n.808-4C=) | |
| 3 | g.38894968G>T | CA2322042 | SCN11A | c.2404-4C>A (n.2404-4C>A) c.2224-4C>A (n.2224-4C>A) c.2448-4C>A (n.2448-4C>A) c.2023-4C>A (n.2023-4C>A) c.1741-4C>A (n.1741-4C>A) c.952-4C>A (n.952-4C>A) c.2779-4C>A (n.2779-4C>A) c.2206-4C>A (n.2206-4C>A) c.2131-4C>A (n.2131-4C>A) c.808-4C>A (n.808-4C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38894969G>A | CA2665127326 | SCN11A | c.2404-5C>T (n.2404-5C>T) c.2224-5C>T (n.2224-5C>T) c.2448-5C>T (n.2448-5C>T) c.2023-5C>T (n.2023-5C>T) c.1741-5C>T (n.1741-5C>T) c.952-5C>T (n.952-5C>T) c.2779-5C>T (n.2779-5C>T) c.2206-5C>T (n.2206-5C>T) c.2131-5C>T (n.2131-5C>T) c.808-5C>T (n.808-5C>T) | dbSNP gnomAD v4 |
| 3 | g.38894969G= | CA1358718315 | SCN11A | c.2404-5C= (n.2404-5C=) c.2224-5C= (n.2224-5C=) c.2448-5C= (n.2448-5C=) c.2023-5C= (n.2023-5C=) c.1741-5C= (n.1741-5C=) c.952-5C= (n.952-5C=) c.2779-5C= (n.2779-5C=) c.2206-5C= (n.2206-5C=) c.2131-5C= (n.2131-5C=) c.808-5C= (n.808-5C=) | |
| 3 | g.38894969G>T | CA2322043 | SCN11A | c.2404-5C>A (n.2404-5C>A) c.2224-5C>A (n.2224-5C>A) c.2448-5C>A (n.2448-5C>A) c.2023-5C>A (n.2023-5C>A) c.1741-5C>A (n.1741-5C>A) c.952-5C>A (n.952-5C>A) c.2779-5C>A (n.2779-5C>A) c.2206-5C>A (n.2206-5C>A) c.2131-5C>A (n.2131-5C>A) c.808-5C>A (n.808-5C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38894970A= | CA1358718316 | SCN11A | c.2404-6T= (n.2404-6T=) c.2224-6T= (n.2224-6T=) c.2448-6T= (n.2448-6T=) c.2023-6T= (n.2023-6T=) c.1741-6T= (n.1741-6T=) c.952-6T= (n.952-6T=) c.2779-6T= (n.2779-6T=) c.2206-6T= (n.2206-6T=) c.2131-6T= (n.2131-6T=) c.808-6T= (n.808-6T=) | |
| 3 | g.38894970A>G | CA72997975 | SCN11A | c.2404-6T>C (n.2404-6T>C) c.2224-6T>C (n.2224-6T>C) c.2448-6T>C (n.2448-6T>C) c.2023-6T>C (n.2023-6T>C) c.1741-6T>C (n.1741-6T>C) c.952-6T>C (n.952-6T>C) c.2779-6T>C (n.2779-6T>C) c.2206-6T>C (n.2206-6T>C) c.2131-6T>C (n.2131-6T>C) c.808-6T>C (n.808-6T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38894970A>T | CA2665127327 | SCN11A | c.2404-6T>A (n.2404-6T>A) c.2224-6T>A (n.2224-6T>A) c.2448-6T>A (n.2448-6T>A) c.2023-6T>A (n.2023-6T>A) c.1741-6T>A (n.1741-6T>A) c.952-6T>A (n.952-6T>A) c.2779-6T>A (n.2779-6T>A) c.2206-6T>A (n.2206-6T>A) c.2131-6T>A (n.2131-6T>A) c.808-6T>A (n.808-6T>A) | gnomAD v4 |
| 3 | g.38894971A= | CA1358718317 | SCN11A | c.2404-7T= (n.2404-7T=) c.2224-7T= (n.2224-7T=) c.2448-7T= (n.2448-7T=) c.2023-7T= (n.2023-7T=) c.1741-7T= (n.1741-7T=) c.952-7T= (n.952-7T=) c.2779-7T= (n.2779-7T=) c.2206-7T= (n.2206-7T=) c.2131-7T= (n.2131-7T=) c.808-7T= (n.808-7T=) | |
| 3 | g.38894971A>G | CA72997976 | SCN11A | c.2404-7T>C (n.2404-7T>C) c.2224-7T>C (n.2224-7T>C) c.2448-7T>C (n.2448-7T>C) c.2023-7T>C (n.2023-7T>C) c.1741-7T>C (n.1741-7T>C) c.952-7T>C (n.952-7T>C) c.2779-7T>C (n.2779-7T>C) c.2206-7T>C (n.2206-7T>C) c.2131-7T>C (n.2131-7T>C) c.808-7T>C (n.808-7T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38894971_38894972insAAGG | CA2520813371 | SCN11A | c.2404-8_2404-7insCCTT (n.2404-8_2404-7insCCTT) c.2224-8_2224-7insCCTT (n.2224-8_2224-7insCCTT) c.2448-8_2448-7insCCTT (n.2448-8_2448-7insCCTT) c.2023-8_2023-7insCCTT (n.2023-8_2023-7insCCTT) c.1741-8_1741-7insCCTT (n.1741-8_1741-7insCCTT) c.952-8_952-7insCCTT (n.952-8_952-7insCCTT) c.2779-8_2779-7insCCTT (n.2779-8_2779-7insCCTT) c.2206-8_2206-7insCCTT (n.2206-8_2206-7insCCTT) c.2131-8_2131-7insCCTT (n.2131-8_2131-7insCCTT) c.808-8_808-7insCCTT (n.808-8_808-7insCCTT) | |
| 3 | g.38894972T>C | CA2322044 | SCN11A | c.2404-8A>G (n.2404-8A>G) c.2224-8A>G (n.2224-8A>G) c.2448-8A>G (n.2448-8A>G) c.2023-8A>G (n.2023-8A>G) c.1741-8A>G (n.1741-8A>G) c.952-8A>G (n.952-8A>G) c.2779-8A>G (n.2779-8A>G) c.2206-8A>G (n.2206-8A>G) c.2131-8A>G (n.2131-8A>G) c.808-8A>G (n.808-8A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38894972T= | CA1358718318 | SCN11A | c.2404-8A= (n.2404-8A=) c.2224-8A= (n.2224-8A=) c.2448-8A= (n.2448-8A=) c.2023-8A= (n.2023-8A=) c.1741-8A= (n.1741-8A=) c.952-8A= (n.952-8A=) c.2779-8A= (n.2779-8A=) c.2206-8A= (n.2206-8A=) c.2131-8A= (n.2131-8A=) c.808-8A= (n.808-8A=) | |
| 3 | g.38894973G>A | CA2580069790 | SCN11A | c.2404-9C>T (n.2404-9C>T) c.2224-9C>T (n.2224-9C>T) c.2448-9C>T (n.2448-9C>T) c.2023-9C>T (n.2023-9C>T) c.1741-9C>T (n.1741-9C>T) c.952-9C>T (n.952-9C>T) c.2779-9C>T (n.2779-9C>T) c.2206-9C>T (n.2206-9C>T) c.2131-9C>T (n.2131-9C>T) c.808-9C>T (n.808-9C>T) | ClinVar |
| 3 | g.38894973_38894974insAA | CA2552184563 | SCN11A | c.2404-10_2404-9insTT (n.2404-10_2404-9insTT) c.2224-10_2224-9insTT (n.2224-10_2224-9insTT) c.2448-10_2448-9insTT (n.2448-10_2448-9insTT) c.2023-10_2023-9insTT (n.2023-10_2023-9insTT) c.1741-10_1741-9insTT (n.1741-10_1741-9insTT) c.952-10_952-9insTT (n.952-10_952-9insTT) c.2779-10_2779-9insTT (n.2779-10_2779-9insTT) c.2206-10_2206-9insTT (n.2206-10_2206-9insTT) c.2131-10_2131-9insTT (n.2131-10_2131-9insTT) c.808-10_808-9insTT (n.808-10_808-9insTT) | |
| 3 | g.38894974G>A | CA2577554834 | SCN11A | c.2404-10C>T (n.2404-10C>T) c.2224-10C>T (n.2224-10C>T) c.2448-10C>T (n.2448-10C>T) c.2023-10C>T (n.2023-10C>T) c.1741-10C>T (n.1741-10C>T) c.952-10C>T (n.952-10C>T) c.2779-10C>T (n.2779-10C>T) c.2206-10C>T (n.2206-10C>T) c.2131-10C>T (n.2131-10C>T) c.808-10C>T (n.808-10C>T) | |
| 3 | g.38894975G>C | CA2577554835 | SCN11A | c.2404-11C>G (n.2404-11C>G) c.2224-11C>G (n.2224-11C>G) c.2448-11C>G (n.2448-11C>G) c.2023-11C>G (n.2023-11C>G) c.1741-11C>G (n.1741-11C>G) c.952-11C>G (n.952-11C>G) c.2779-11C>G (n.2779-11C>G) c.2206-11C>G (n.2206-11C>G) c.2131-11C>G (n.2131-11C>G) c.808-11C>G (n.808-11C>G) | |
| 3 | g.38894978G>A | CA1358718320 | SCN11A | c.2404-14C>T (n.2404-14C>T) c.2224-14C>T (n.2224-14C>T) c.2448-14C>T (n.2448-14C>T) c.2023-14C>T (n.2023-14C>T) c.1741-14C>T (n.1741-14C>T) c.952-14C>T (n.952-14C>T) c.2779-14C>T (n.2779-14C>T) c.2206-14C>T (n.2206-14C>T) c.2131-14C>T (n.2131-14C>T) c.808-14C>T (n.808-14C>T) | dbSNP gnomAD v4 |
| 3 | g.38894978G= | CA1358718319 | SCN11A | c.2404-14C= (n.2404-14C=) c.2224-14C= (n.2224-14C=) c.2448-14C= (n.2448-14C=) c.2023-14C= (n.2023-14C=) c.1741-14C= (n.1741-14C=) c.952-14C= (n.952-14C=) c.2779-14C= (n.2779-14C=) c.2206-14C= (n.2206-14C=) c.2131-14C= (n.2131-14C=) c.808-14C= (n.808-14C=) | |
| 3 | g.38894979G>C | CA2755906891 | SCN11A | c.2404-15C>G (n.2404-15C>G) c.2224-15C>G (n.2224-15C>G) c.2448-15C>G (n.2448-15C>G) c.2023-15C>G (n.2023-15C>G) c.1741-15C>G (n.1741-15C>G) c.952-15C>G (n.952-15C>G) c.2779-15C>G (n.2779-15C>G) c.2206-15C>G (n.2206-15C>G) c.2131-15C>G (n.2131-15C>G) c.808-15C>G (n.808-15C>G) | |
| 3 | g.38894979G>T | CA2665127328 | SCN11A | c.2404-15C>A (n.2404-15C>A) c.2224-15C>A (n.2224-15C>A) c.2448-15C>A (n.2448-15C>A) c.2023-15C>A (n.2023-15C>A) c.1741-15C>A (n.1741-15C>A) c.952-15C>A (n.952-15C>A) c.2779-15C>A (n.2779-15C>A) c.2206-15C>A (n.2206-15C>A) c.2131-15C>A (n.2131-15C>A) c.808-15C>A (n.808-15C>A) | gnomAD v4 |
| 3 | g.38894981T>C | CA542288058 | SCN11A | c.2404-17A>G (n.2404-17A>G) c.2224-17A>G (n.2224-17A>G) c.2448-17A>G (n.2448-17A>G) c.2023-17A>G (n.2023-17A>G) c.1741-17A>G (n.1741-17A>G) c.952-17A>G (n.952-17A>G) c.2779-17A>G (n.2779-17A>G) c.2206-17A>G (n.2206-17A>G) c.2131-17A>G (n.2131-17A>G) c.808-17A>G (n.808-17A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38894981T= | CA1358718321 | SCN11A | c.2404-17A= (n.2404-17A=) c.2224-17A= (n.2224-17A=) c.2448-17A= (n.2448-17A=) c.2023-17A= (n.2023-17A=) c.1741-17A= (n.1741-17A=) c.952-17A= (n.952-17A=) c.2779-17A= (n.2779-17A=) c.2206-17A= (n.2206-17A=) c.2131-17A= (n.2131-17A=) c.808-17A= (n.808-17A=) | |
| 3 | g.38894983G>A | CA2322045 | SCN11A | c.2404-19C>T (n.2404-19C>T) c.2224-19C>T (n.2224-19C>T) c.2448-19C>T (n.2448-19C>T) c.2023-19C>T (n.2023-19C>T) c.1741-19C>T (n.1741-19C>T) c.952-19C>T (n.952-19C>T) c.2779-19C>T (n.2779-19C>T) c.2206-19C>T (n.2206-19C>T) c.2131-19C>T (n.2131-19C>T) c.808-19C>T (n.808-19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38894983G= | CA1358718322 | SCN11A | c.2404-19C= (n.2404-19C=) c.2224-19C= (n.2224-19C=) c.2448-19C= (n.2448-19C=) c.2023-19C= (n.2023-19C=) c.1741-19C= (n.1741-19C=) c.952-19C= (n.952-19C=) c.2779-19C= (n.2779-19C=) c.2206-19C= (n.2206-19C=) c.2131-19C= (n.2131-19C=) c.808-19C= (n.808-19C=) | |
| 3 | g.38894984C>A | CA2577554836 | SCN11A | c.2404-20G>T (n.2404-20G>T) c.2224-20G>T (n.2224-20G>T) c.2448-20G>T (n.2448-20G>T) c.2023-20G>T (n.2023-20G>T) c.1741-20G>T (n.1741-20G>T) c.952-20G>T (n.952-20G>T) c.2779-20G>T (n.2779-20G>T) c.2206-20G>T (n.2206-20G>T) c.2131-20G>T (n.2131-20G>T) c.808-20G>T (n.808-20G>T) | ClinVar |
| 3 | g.38894984C= | CA1358718323 | SCN11A | c.2404-20G= (n.2404-20G=) c.2224-20G= (n.2224-20G=) c.2448-20G= (n.2448-20G=) c.2023-20G= (n.2023-20G=) c.1741-20G= (n.1741-20G=) c.952-20G= (n.952-20G=) c.2779-20G= (n.2779-20G=) c.2206-20G= (n.2206-20G=) c.2131-20G= (n.2131-20G=) c.808-20G= (n.808-20G=) | |
| 3 | g.38894984C>G | CA542288059 | SCN11A | c.2404-20G>C (n.2404-20G>C) c.2224-20G>C (n.2224-20G>C) c.2448-20G>C (n.2448-20G>C) c.2023-20G>C (n.2023-20G>C) c.1741-20G>C (n.1741-20G>C) c.952-20G>C (n.952-20G>C) c.2779-20G>C (n.2779-20G>C) c.2206-20G>C (n.2206-20G>C) c.2131-20G>C (n.2131-20G>C) c.808-20G>C (n.808-20G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38894984C>T | CA2322046 | SCN11A | c.2404-20G>A (n.2404-20G>A) c.2224-20G>A (n.2224-20G>A) c.2448-20G>A (n.2448-20G>A) c.2023-20G>A (n.2023-20G>A) c.1741-20G>A (n.1741-20G>A) c.952-20G>A (n.952-20G>A) c.2779-20G>A (n.2779-20G>A) c.2206-20G>A (n.2206-20G>A) c.2131-20G>A (n.2131-20G>A) c.808-20G>A (n.808-20G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38894990_38894992del | CA2665127329 | SCN11A | c.2404-23_2404-21del (n.2404-23_2404-21del) c.2224-23_2224-21del (n.2224-23_2224-21del) c.2448-23_2448-21del (n.2448-23_2448-21del) c.2023-23_2023-21del (n.2023-23_2023-21del) c.1741-23_1741-21del (n.1741-23_1741-21del) c.952-23_952-21del (n.952-23_952-21del) c.2779-23_2779-21del (n.2779-23_2779-21del) c.2206-23_2206-21del (n.2206-23_2206-21del) c.2131-23_2131-21del (n.2131-23_2131-21del) c.808-23_808-21del (n.808-23_808-21del) | gnomAD v4 |
| 3 | g.38894986A= | CA1358718324 | SCN11A | c.2404-22T= (n.2404-22T=) c.2224-22T= (n.2224-22T=) c.2448-22T= (n.2448-22T=) c.2023-22T= (n.2023-22T=) c.1741-22T= (n.1741-22T=) c.952-22T= (n.952-22T=) c.2779-22T= (n.2779-22T=) c.2206-22T= (n.2206-22T=) c.2131-22T= (n.2131-22T=) c.808-22T= (n.808-22T=) | |
| 3 | g.38894986A>C | CA2322047 | SCN11A | c.2404-22T>G (n.2404-22T>G) c.2224-22T>G (n.2224-22T>G) c.2448-22T>G (n.2448-22T>G) c.2023-22T>G (n.2023-22T>G) c.1741-22T>G (n.1741-22T>G) c.952-22T>G (n.952-22T>G) c.2779-22T>G (n.2779-22T>G) c.2206-22T>G (n.2206-22T>G) c.2131-22T>G (n.2131-22T>G) c.808-22T>G (n.808-22T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38894986A>T | CA906910370 | SCN11A | c.2404-22T>A (n.2404-22T>A) c.2224-22T>A (n.2224-22T>A) c.2448-22T>A (n.2448-22T>A) c.2023-22T>A (n.2023-22T>A) c.1741-22T>A (n.1741-22T>A) c.952-22T>A (n.952-22T>A) c.2779-22T>A (n.2779-22T>A) c.2206-22T>A (n.2206-22T>A) c.2131-22T>A (n.2131-22T>A) c.808-22T>A (n.808-22T>A) | dbSNP |
| 3 | g.38894990G>C | CA2665127330 | SCN11A | c.2404-26C>G (n.2404-26C>G) c.2224-26C>G (n.2224-26C>G) c.2448-26C>G (n.2448-26C>G) c.2023-26C>G (n.2023-26C>G) c.1741-26C>G (n.1741-26C>G) c.952-26C>G (n.952-26C>G) c.2779-26C>G (n.2779-26C>G) c.2206-26C>G (n.2206-26C>G) c.2131-26C>G (n.2131-26C>G) c.808-26C>G (n.808-26C>G) | gnomAD v4 |
| 3 | g.38894990G>T | CA2665127331 | SCN11A | c.2404-26C>A (n.2404-26C>A) c.2224-26C>A (n.2224-26C>A) c.2448-26C>A (n.2448-26C>A) c.2023-26C>A (n.2023-26C>A) c.1741-26C>A (n.1741-26C>A) c.952-26C>A (n.952-26C>A) c.2779-26C>A (n.2779-26C>A) c.2206-26C>A (n.2206-26C>A) c.2131-26C>A (n.2131-26C>A) c.808-26C>A (n.808-26C>A) | gnomAD v4 |
| 3 | g.38894991A= | CA1358718325 | SCN11A | c.2404-27T= (n.2404-27T=) c.2224-27T= (n.2224-27T=) c.2448-27T= (n.2448-27T=) c.2023-27T= (n.2023-27T=) c.1741-27T= (n.1741-27T=) c.952-27T= (n.952-27T=) c.2779-27T= (n.2779-27T=) c.2206-27T= (n.2206-27T=) c.2131-27T= (n.2131-27T=) c.808-27T= (n.808-27T=) | |
| 3 | g.38894991A>G | CA542288060 | SCN11A | c.2404-27T>C (n.2404-27T>C) c.2224-27T>C (n.2224-27T>C) c.2448-27T>C (n.2448-27T>C) c.2023-27T>C (n.2023-27T>C) c.1741-27T>C (n.1741-27T>C) c.952-27T>C (n.952-27T>C) c.2779-27T>C (n.2779-27T>C) c.2206-27T>C (n.2206-27T>C) c.2131-27T>C (n.2131-27T>C) c.808-27T>C (n.808-27T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38894996A= | CA1358718326 | SCN11A | c.2404-32T= (n.2404-32T=) c.2224-32T= (n.2224-32T=) c.2448-32T= (n.2448-32T=) c.2023-32T= (n.2023-32T=) c.1741-32T= (n.1741-32T=) c.952-32T= (n.952-32T=) c.2779-32T= (n.2779-32T=) c.2206-32T= (n.2206-32T=) c.2131-32T= (n.2131-32T=) c.808-32T= (n.808-32T=) | |
| 3 | g.38894996A>C | CA542288061 | SCN11A | c.2404-32T>G (n.2404-32T>G) c.2224-32T>G (n.2224-32T>G) c.2448-32T>G (n.2448-32T>G) c.2023-32T>G (n.2023-32T>G) c.1741-32T>G (n.1741-32T>G) c.952-32T>G (n.952-32T>G) c.2779-32T>G (n.2779-32T>G) c.2206-32T>G (n.2206-32T>G) c.2131-32T>G (n.2131-32T>G) c.808-32T>G (n.808-32T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38894996A>G | CA1047013063 | SCN11A | c.2404-32T>C (n.2404-32T>C) c.2224-32T>C (n.2224-32T>C) c.2448-32T>C (n.2448-32T>C) c.2023-32T>C (n.2023-32T>C) c.1741-32T>C (n.1741-32T>C) c.952-32T>C (n.952-32T>C) c.2779-32T>C (n.2779-32T>C) c.2206-32T>C (n.2206-32T>C) c.2131-32T>C (n.2131-32T>C) c.808-32T>C (n.808-32T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38894997A= | CA1358718327 | SCN11A | c.2404-33T= (n.2404-33T=) c.2224-33T= (n.2224-33T=) c.2448-33T= (n.2448-33T=) c.2023-33T= (n.2023-33T=) c.1741-33T= (n.1741-33T=) c.952-33T= (n.952-33T=) c.2779-33T= (n.2779-33T=) c.2206-33T= (n.2206-33T=) c.2131-33T= (n.2131-33T=) c.808-33T= (n.808-33T=) | |
| 3 | g.38894997A>C | CA2581867296 | SCN11A | c.2404-33T>G (n.2404-33T>G) c.2224-33T>G (n.2224-33T>G) c.2448-33T>G (n.2448-33T>G) c.2023-33T>G (n.2023-33T>G) c.1741-33T>G (n.1741-33T>G) c.952-33T>G (n.952-33T>G) c.2779-33T>G (n.2779-33T>G) c.2206-33T>G (n.2206-33T>G) c.2131-33T>G (n.2131-33T>G) c.808-33T>G (n.808-33T>G) | |
| 3 | g.38894997A>G | CA2322048 | SCN11A | c.2404-33T>C (n.2404-33T>C) c.2224-33T>C (n.2224-33T>C) c.2448-33T>C (n.2448-33T>C) c.2023-33T>C (n.2023-33T>C) c.1741-33T>C (n.1741-33T>C) c.952-33T>C (n.952-33T>C) c.2779-33T>C (n.2779-33T>C) c.2206-33T>C (n.2206-33T>C) c.2131-33T>C (n.2131-33T>C) c.808-33T>C (n.808-33T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38894997A>T | CA2581867297 | SCN11A | c.2404-33T>A (n.2404-33T>A) c.2224-33T>A (n.2224-33T>A) c.2448-33T>A (n.2448-33T>A) c.2023-33T>A (n.2023-33T>A) c.1741-33T>A (n.1741-33T>A) c.952-33T>A (n.952-33T>A) c.2779-33T>A (n.2779-33T>A) c.2206-33T>A (n.2206-33T>A) c.2131-33T>A (n.2131-33T>A) c.808-33T>A (n.808-33T>A) | |
| 3 | g.38894999G>A | CA2322049 | SCN11A | c.2404-35C>T (n.2404-35C>T) c.2224-35C>T (n.2224-35C>T) c.2448-35C>T (n.2448-35C>T) c.2023-35C>T (n.2023-35C>T) c.1741-35C>T (n.1741-35C>T) c.952-35C>T (n.952-35C>T) c.2779-35C>T (n.2779-35C>T) c.2206-35C>T (n.2206-35C>T) c.2131-35C>T (n.2131-35C>T) c.808-35C>T (n.808-35C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38894999G>C | CA2665127332 | SCN11A | c.2404-35C>G (n.2404-35C>G) c.2224-35C>G (n.2224-35C>G) c.2448-35C>G (n.2448-35C>G) c.2023-35C>G (n.2023-35C>G) c.1741-35C>G (n.1741-35C>G) c.952-35C>G (n.952-35C>G) c.2779-35C>G (n.2779-35C>G) c.2206-35C>G (n.2206-35C>G) c.2131-35C>G (n.2131-35C>G) c.808-35C>G (n.808-35C>G) | gnomAD v4 |
| 3 | g.38894999G= | CA1358718328 | SCN11A | c.2404-35C= (n.2404-35C=) c.2224-35C= (n.2224-35C=) c.2448-35C= (n.2448-35C=) c.2023-35C= (n.2023-35C=) c.1741-35C= (n.1741-35C=) c.952-35C= (n.952-35C=) c.2779-35C= (n.2779-35C=) c.2206-35C= (n.2206-35C=) c.2131-35C= (n.2131-35C=) c.808-35C= (n.808-35C=) | |
| 3 | g.38894999G>T | CA2322050 | SCN11A | c.2404-35C>A (n.2404-35C>A) c.2224-35C>A (n.2224-35C>A) c.2448-35C>A (n.2448-35C>A) c.2023-35C>A (n.2023-35C>A) c.1741-35C>A (n.1741-35C>A) c.952-35C>A (n.952-35C>A) c.2779-35C>A (n.2779-35C>A) c.2206-35C>A (n.2206-35C>A) c.2131-35C>A (n.2131-35C>A) c.808-35C>A (n.808-35C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38895000T>G | CA2665127333 | SCN11A | c.2404-36A>C (n.2404-36A>C) c.2224-36A>C (n.2224-36A>C) c.2448-36A>C (n.2448-36A>C) c.2023-36A>C (n.2023-36A>C) c.1741-36A>C (n.1741-36A>C) c.952-36A>C (n.952-36A>C) c.2779-36A>C (n.2779-36A>C) c.2206-36A>C (n.2206-36A>C) c.2131-36A>C (n.2131-36A>C) c.808-36A>C (n.808-36A>C) | gnomAD v4 |
| 3 | g.38895003A= | CA1358718329 | SCN11A | c.2404-39T= (n.2404-39T=) c.2224-39T= (n.2224-39T=) c.2448-39T= (n.2448-39T=) c.2023-39T= (n.2023-39T=) c.1741-39T= (n.1741-39T=) c.952-39T= (n.952-39T=) c.2779-39T= (n.2779-39T=) c.2206-39T= (n.2206-39T=) c.2131-39T= (n.2131-39T=) c.808-39T= (n.808-39T=) | |
| 3 | g.38895003A>T | CA2322051 | SCN11A | c.2404-39T>A (n.2404-39T>A) c.2224-39T>A (n.2224-39T>A) c.2448-39T>A (n.2448-39T>A) c.2023-39T>A (n.2023-39T>A) c.1741-39T>A (n.1741-39T>A) c.952-39T>A (n.952-39T>A) c.2779-39T>A (n.2779-39T>A) c.2206-39T>A (n.2206-39T>A) c.2131-39T>A (n.2131-39T>A) c.808-39T>A (n.808-39T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38895005C>A | CA1047013066 | SCN11A | c.2404-41G>T (n.2404-41G>T) c.2224-41G>T (n.2224-41G>T) c.2448-41G>T (n.2448-41G>T) c.2023-41G>T (n.2023-41G>T) c.1741-41G>T (n.1741-41G>T) c.952-41G>T (n.952-41G>T) c.2779-41G>T (n.2779-41G>T) c.2206-41G>T (n.2206-41G>T) c.2131-41G>T (n.2131-41G>T) c.808-41G>T (n.808-41G>T) | gnomAD v3 gnomAD v4 |
| 3 | g.38895005C>T | CA2665127334 | SCN11A | c.2404-41G>A (n.2404-41G>A) c.2224-41G>A (n.2224-41G>A) c.2448-41G>A (n.2448-41G>A) c.2023-41G>A (n.2023-41G>A) c.1741-41G>A (n.1741-41G>A) c.952-41G>A (n.952-41G>A) c.2779-41G>A (n.2779-41G>A) c.2206-41G>A (n.2206-41G>A) c.2131-41G>A (n.2131-41G>A) c.808-41G>A (n.808-41G>A) | gnomAD v4 |
| 3 | g.38895006A= | CA1358718330 | SCN11A | c.2404-42T= (n.2404-42T=) c.2224-42T= (n.2224-42T=) c.2448-42T= (n.2448-42T=) c.2023-42T= (n.2023-42T=) c.1741-42T= (n.1741-42T=) c.952-42T= (n.952-42T=) c.2779-42T= (n.2779-42T=) c.2206-42T= (n.2206-42T=) c.2131-42T= (n.2131-42T=) c.808-42T= (n.808-42T=) | |
| 3 | g.38895006A>C | CA542288062 | SCN11A | c.2404-42T>G (n.2404-42T>G) c.2224-42T>G (n.2224-42T>G) c.2448-42T>G (n.2448-42T>G) c.2023-42T>G (n.2023-42T>G) c.1741-42T>G (n.1741-42T>G) c.952-42T>G (n.952-42T>G) c.2779-42T>G (n.2779-42T>G) c.2206-42T>G (n.2206-42T>G) c.2131-42T>G (n.2131-42T>G) c.808-42T>G (n.808-42T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38895006A>T | CA906910371 | SCN11A | c.2404-42T>A (n.2404-42T>A) c.2224-42T>A (n.2224-42T>A) c.2448-42T>A (n.2448-42T>A) c.2023-42T>A (n.2023-42T>A) c.1741-42T>A (n.1741-42T>A) c.952-42T>A (n.952-42T>A) c.2779-42T>A (n.2779-42T>A) c.2206-42T>A (n.2206-42T>A) c.2131-42T>A (n.2131-42T>A) c.808-42T>A (n.808-42T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38895007_38895008insTG | CA2570707910 | SCN11A | c.2404-44_2404-43insCA (n.2404-44_2404-43insCA) c.2224-44_2224-43insCA (n.2224-44_2224-43insCA) c.2448-44_2448-43insCA (n.2448-44_2448-43insCA) c.2023-44_2023-43insCA (n.2023-44_2023-43insCA) c.1741-44_1741-43insCA (n.1741-44_1741-43insCA) c.952-44_952-43insCA (n.952-44_952-43insCA) c.2779-44_2779-43insCA (n.2779-44_2779-43insCA) c.2206-44_2206-43insCA (n.2206-44_2206-43insCA) c.2131-44_2131-43insCA (n.2131-44_2131-43insCA) c.808-44_808-43insCA (n.808-44_808-43insCA) | |
| 3 | g.38895008A= | CA1358718331 | SCN11A | c.2404-44T= (n.2404-44T=) c.2224-44T= (n.2224-44T=) c.2448-44T= (n.2448-44T=) c.2023-44T= (n.2023-44T=) c.1741-44T= (n.1741-44T=) c.952-44T= (n.952-44T=) c.2779-44T= (n.2779-44T=) c.2206-44T= (n.2206-44T=) c.2131-44T= (n.2131-44T=) c.808-44T= (n.808-44T=) | |
| 3 | g.38895008A>G | CA72998019 | SCN11A | c.2404-44T>C (n.2404-44T>C) c.2224-44T>C (n.2224-44T>C) c.2448-44T>C (n.2448-44T>C) c.2023-44T>C (n.2023-44T>C) c.1741-44T>C (n.1741-44T>C) c.952-44T>C (n.952-44T>C) c.2779-44T>C (n.2779-44T>C) c.2206-44T>C (n.2206-44T>C) c.2131-44T>C (n.2131-44T>C) c.808-44T>C (n.808-44T>C) | dbSNP |
| 3 | g.38895009G= | CA1358718332 | SCN11A | c.2404-45C= (n.2404-45C=) c.2224-45C= (n.2224-45C=) c.2448-45C= (n.2448-45C=) c.2023-45C= (n.2023-45C=) c.1741-45C= (n.1741-45C=) c.952-45C= (n.952-45C=) c.2779-45C= (n.2779-45C=) c.2206-45C= (n.2206-45C=) c.2131-45C= (n.2131-45C=) c.808-45C= (n.808-45C=) | |
| 3 | g.38895009G>T | CA1358718333 | SCN11A | c.2404-45C>A (n.2404-45C>A) c.2224-45C>A (n.2224-45C>A) c.2448-45C>A (n.2448-45C>A) c.2023-45C>A (n.2023-45C>A) c.1741-45C>A (n.1741-45C>A) c.952-45C>A (n.952-45C>A) c.2779-45C>A (n.2779-45C>A) c.2206-45C>A (n.2206-45C>A) c.2131-45C>A (n.2131-45C>A) c.808-45C>A (n.808-45C>A) | dbSNP gnomAD v4 |
| 3 | g.38895010G>A | CA2665127335 | SCN11A | c.2404-46C>T (n.2404-46C>T) c.2224-46C>T (n.2224-46C>T) c.2448-46C>T (n.2448-46C>T) c.2023-46C>T (n.2023-46C>T) c.1741-46C>T (n.1741-46C>T) c.952-46C>T (n.952-46C>T) c.2779-46C>T (n.2779-46C>T) c.2206-46C>T (n.2206-46C>T) c.2131-46C>T (n.2131-46C>T) c.808-46C>T (n.808-46C>T) | gnomAD v4 |
| 3 | g.38895010G>C | CA72998022 | SCN11A | c.2404-46C>G (n.2404-46C>G) c.2224-46C>G (n.2224-46C>G) c.2448-46C>G (n.2448-46C>G) c.2023-46C>G (n.2023-46C>G) c.1741-46C>G (n.1741-46C>G) c.952-46C>G (n.952-46C>G) c.2779-46C>G (n.2779-46C>G) c.2206-46C>G (n.2206-46C>G) c.2131-46C>G (n.2131-46C>G) c.808-46C>G (n.808-46C>G) | dbSNP |
| 3 | g.38895010G= | CA1358718334 | SCN11A | c.2404-46C= (n.2404-46C=) c.2224-46C= (n.2224-46C=) c.2448-46C= (n.2448-46C=) c.2023-46C= (n.2023-46C=) c.1741-46C= (n.1741-46C=) c.952-46C= (n.952-46C=) c.2779-46C= (n.2779-46C=) c.2206-46C= (n.2206-46C=) c.2131-46C= (n.2131-46C=) c.808-46C= (n.808-46C=) | |
| 3 | g.38895011A>T | CA2665127337 | SCN11A | c.2404-47T>A (n.2404-47T>A) c.2224-47T>A (n.2224-47T>A) c.2448-47T>A (n.2448-47T>A) c.2023-47T>A (n.2023-47T>A) c.1741-47T>A (n.1741-47T>A) c.952-47T>A (n.952-47T>A) c.2779-47T>A (n.2779-47T>A) c.2206-47T>A (n.2206-47T>A) c.2131-47T>A (n.2131-47T>A) c.808-47T>A (n.808-47T>A) | gnomAD v4 |
| 3 | g.38895014dup | CA2665127336 | SCN11A | c.2404-47dup (n.2404-47dup) c.2224-47dup (n.2224-47dup) c.2448-47dup (n.2448-47dup) c.2023-47dup (n.2023-47dup) c.1741-47dup (n.1741-47dup) c.952-47dup (n.952-47dup) c.2779-47dup (n.2779-47dup) c.2206-47dup (n.2206-47dup) c.2131-47dup (n.2131-47dup) c.808-47dup (n.808-47dup) | gnomAD v4 |
| 3 | g.38895014del | CA2577554837 | SCN11A | c.2404-47del (n.2404-47del) c.2224-47del (n.2224-47del) c.2448-47del (n.2448-47del) c.2023-47del (n.2023-47del) c.1741-47del (n.1741-47del) c.952-47del (n.952-47del) c.2779-47del (n.2779-47del) c.2206-47del (n.2206-47del) c.2131-47del (n.2131-47del) c.808-47del (n.808-47del) | |
| 3 | g.38895013A= | CA1358718335 | SCN11A | c.2404-49T= (n.2404-49T=) c.2224-49T= (n.2224-49T=) c.2448-49T= (n.2448-49T=) c.2023-49T= (n.2023-49T=) c.1741-49T= (n.1741-49T=) c.952-49T= (n.952-49T=) c.2779-49T= (n.2779-49T=) c.2206-49T= (n.2206-49T=) c.2131-49T= (n.2131-49T=) c.808-49T= (n.808-49T=) | |
| 3 | g.38895013A>C | CA1358718336 | SCN11A | c.2404-49T>G (n.2404-49T>G) c.2224-49T>G (n.2224-49T>G) c.2448-49T>G (n.2448-49T>G) c.2023-49T>G (n.2023-49T>G) c.1741-49T>G (n.1741-49T>G) c.952-49T>G (n.952-49T>G) c.2779-49T>G (n.2779-49T>G) c.2206-49T>G (n.2206-49T>G) c.2131-49T>G (n.2131-49T>G) c.808-49T>G (n.808-49T>G) | dbSNP |
| 3 | g.38895014A>G | CA2665127338 | SCN11A | c.2404-50T>C (n.2404-50T>C) c.2224-50T>C (n.2224-50T>C) c.2448-50T>C (n.2448-50T>C) c.2023-50T>C (n.2023-50T>C) c.1741-50T>C (n.1741-50T>C) c.952-50T>C (n.952-50T>C) c.2779-50T>C (n.2779-50T>C) c.2206-50T>C (n.2206-50T>C) c.2131-50T>C (n.2131-50T>C) c.808-50T>C (n.808-50T>C) | gnomAD v4 |
| 3 | g.38895015G>C | CA2577554838 | SCN11A | c.2404-51C>G (n.2404-51C>G) c.2224-51C>G (n.2224-51C>G) c.2448-51C>G (n.2448-51C>G) c.2023-51C>G (n.2023-51C>G) c.1741-51C>G (n.1741-51C>G) c.952-51C>G (n.952-51C>G) c.2779-51C>G (n.2779-51C>G) c.2206-51C>G (n.2206-51C>G) c.2131-51C>G (n.2131-51C>G) c.808-51C>G (n.808-51C>G) | gnomAD v4 |
| 3 | g.38895015G= | CA1358718337 | SCN11A | c.2404-51C= (n.2404-51C=) c.2224-51C= (n.2224-51C=) c.2448-51C= (n.2448-51C=) c.2023-51C= (n.2023-51C=) c.1741-51C= (n.1741-51C=) c.952-51C= (n.952-51C=) c.2779-51C= (n.2779-51C=) c.2206-51C= (n.2206-51C=) c.2131-51C= (n.2131-51C=) c.808-51C= (n.808-51C=) | |
| 3 | g.38895015G>T | CA2322052 | SCN11A | c.2404-51C>A (n.2404-51C>A) c.2224-51C>A (n.2224-51C>A) c.2448-51C>A (n.2448-51C>A) c.2023-51C>A (n.2023-51C>A) c.1741-51C>A (n.1741-51C>A) c.952-51C>A (n.952-51C>A) c.2779-51C>A (n.2779-51C>A) c.2206-51C>A (n.2206-51C>A) c.2131-51C>A (n.2131-51C>A) c.808-51C>A (n.808-51C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38895017T>A | CA1358718339 | SCN11A | c.2404-53A>T (n.2404-53A>T) c.2224-53A>T (n.2224-53A>T) c.2448-53A>T (n.2448-53A>T) c.2023-53A>T (n.2023-53A>T) c.1741-53A>T (n.1741-53A>T) c.952-53A>T (n.952-53A>T) c.2779-53A>T (n.2779-53A>T) c.2206-53A>T (n.2206-53A>T) c.2131-53A>T (n.2131-53A>T) c.808-53A>T (n.808-53A>T) | dbSNP |
| 3 | g.38895017T>G | CA2702278966 | SCN11A | c.2404-53A>C (n.2404-53A>C) c.2224-53A>C (n.2224-53A>C) c.2448-53A>C (n.2448-53A>C) c.2023-53A>C (n.2023-53A>C) c.1741-53A>C (n.1741-53A>C) c.952-53A>C (n.952-53A>C) c.2779-53A>C (n.2779-53A>C) c.2206-53A>C (n.2206-53A>C) c.2131-53A>C (n.2131-53A>C) c.808-53A>C (n.808-53A>C) | dbSNP |
| 3 | g.38895017T= | CA1358718338 | SCN11A | c.2404-53A= (n.2404-53A=) c.2224-53A= (n.2224-53A=) c.2448-53A= (n.2448-53A=) c.2023-53A= (n.2023-53A=) c.1741-53A= (n.1741-53A=) c.952-53A= (n.952-53A=) c.2779-53A= (n.2779-53A=) c.2206-53A= (n.2206-53A=) c.2131-53A= (n.2131-53A=) c.808-53A= (n.808-53A=) |