Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806239T>A | CA2618841140 | SCN8A | c.4796-43T>A (n.4796-43T>A) c.2860-43T>A c.4673-43T>A (n.4673-43T>A) c.4829-43T>A (n.4829-43T>A) | gnomAD v4 |
12 | g.51806239T>C | CA605238631 | SCN8A | c.4796-43T>C (n.4796-43T>C) c.2860-43T>C c.4673-43T>C (n.4673-43T>C) c.4829-43T>C (n.4829-43T>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51806239T>G | CA2618841137 | SCN8A | c.4796-43T>G (n.4796-43T>G) c.2860-43T>G c.4673-43T>G (n.4673-43T>G) c.4829-43T>G (n.4829-43T>G) | gnomAD v4 |
12 | g.51806239T= | CA2036192306 | SCN8A | c.4796-43T= (n.4796-43T=) c.2860-43T= c.4673-43T= (n.4673-43T=) c.4829-43T= (n.4829-43T=) | |
12 | g.51806240C>A | CA2618841145 | SCN8A | c.4796-42C>A (n.4796-42C>A) c.2860-42C>A c.4673-42C>A (n.4673-42C>A) c.4829-42C>A (n.4829-42C>A) | gnomAD v4 |
12 | g.51806240C>T | CA2618841146 | SCN8A | c.4796-42C>T (n.4796-42C>T) c.2860-42C>T c.4673-42C>T (n.4673-42C>T) c.4829-42C>T (n.4829-42C>T) | gnomAD v4 |
12 | g.51806241T>C | CA2618841149 | SCN8A | c.4796-41T>C (n.4796-41T>C) c.2860-41T>C c.4673-41T>C (n.4673-41T>C) c.4829-41T>C (n.4829-41T>C) | gnomAD v4 |
12 | g.51806242C>A | CA2618841151 | SCN8A | c.4796-40C>A (n.4796-40C>A) c.2860-40C>A c.4673-40C>A (n.4673-40C>A) c.4829-40C>A (n.4829-40C>A) | gnomAD v4 |
12 | g.51806242C>G | CA2618841153 | SCN8A | c.4796-40C>G (n.4796-40C>G) c.2860-40C>G c.4673-40C>G (n.4673-40C>G) c.4829-40C>G (n.4829-40C>G) | gnomAD v4 |
12 | g.51806244del | CA2618841150 | SCN8A | c.4796-38del (n.4796-38del) c.2860-38del c.4673-38del (n.4673-38del) c.4829-38del (n.4829-38del) | gnomAD v4 |
12 | g.51806243C>A | CA2618841156 | SCN8A | c.4796-39C>A (n.4796-39C>A) c.2860-39C>A c.4673-39C>A (n.4673-39C>A) c.4829-39C>A (n.4829-39C>A) | gnomAD v4 |
12 | g.51806243_51806244insAAT | CA2618841163 | SCN8A | c.4796-39_4796-38insAAT (n.4796-39_4796-38insAAT) c.2860-39_2860-38insAAT c.4673-39_4673-38insAAT (n.4673-39_4673-38insAAT) c.4829-39_4829-38insAAT (n.4829-39_4829-38insAAT) | gnomAD v4 |
12 | g.51806244C>A | CA6571866 | SCN8A | c.4796-38C>A (n.4796-38C>A) c.2860-38C>A c.4673-38C>A (n.4673-38C>A) c.4829-38C>A (n.4829-38C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806244C= | CA2036192312 | SCN8A | c.4796-38C= (n.4796-38C=) c.2860-38C= c.4673-38C= (n.4673-38C=) c.4829-38C= (n.4829-38C=) | |
12 | g.51806244C>G | CA2036192310 | SCN8A | c.4796-38C>G (n.4796-38C>G) c.2860-38C>G c.4673-38C>G (n.4673-38C>G) c.4829-38C>G (n.4829-38C>G) | dbSNP gnomAD v4 |
12 | g.51806244C>T | CA947652667 | SCN8A | c.4796-38C>T (n.4796-38C>T) c.2860-38C>T c.4673-38C>T (n.4673-38C>T) c.4829-38C>T (n.4829-38C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51806244_51806245insTCAAAGAGAAAGGGTGTCTCCA | CA2618841168 | SCN8A | c.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA (n.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA) c.2860-38_2860-37insTCAAAGAGAAAGGGTGTCTCCA c.4673-38_4673-37insTCAAAGAGAAAGGGTGTCTCCA (n.4673-38_4673-37insTCAAAGAGAAAGGGTGTCTCCA) c.4829-38_4829-37insTCAAAGAGAAAGGGTGTCTCCA (n.4829-38_4829-37insTCAAAGAGAAAGGGTGTCTCCA) | gnomAD v4 |
12 | g.51806245A>G | CA2618841170 | SCN8A | c.4796-37A>G (n.4796-37A>G) c.2860-37A>G c.4673-37A>G (n.4673-37A>G) c.4829-37A>G (n.4829-37A>G) | gnomAD v4 |
12 | g.51806245_51806246del | CA2618841169 | SCN8A | c.4796-37_4796-36del (n.4796-37_4796-36del) c.2860-37_2860-36del c.4673-37_4673-36del (n.4673-37_4673-36del) c.4829-37_4829-36del (n.4829-37_4829-36del) | gnomAD v4 |
12 | g.51806246T>C | CA2036192317 | SCN8A | c.4796-36T>C (n.4796-36T>C) c.2860-36T>C c.4673-36T>C (n.4673-36T>C) c.4829-36T>C (n.4829-36T>C) | dbSNP gnomAD v4 |
12 | g.51806246T>G | CA2618841175 | SCN8A | c.4796-36T>G (n.4796-36T>G) c.2860-36T>G c.4673-36T>G (n.4673-36T>G) c.4829-36T>G (n.4829-36T>G) | gnomAD v4 |
12 | g.51806246T= | CA2036192315 | SCN8A | c.4796-36T= (n.4796-36T=) c.2860-36T= c.4673-36T= (n.4673-36T=) c.4829-36T= (n.4829-36T=) | |
12 | g.51806247C>A | CA6571867 | SCN8A | c.4796-35C>A (n.4796-35C>A) c.2860-35C>A c.4673-35C>A (n.4673-35C>A) c.4829-35C>A (n.4829-35C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806247C= | CA2036192319 | SCN8A | c.4796-35C= (n.4796-35C=) c.2860-35C= c.4673-35C= (n.4673-35C=) c.4829-35C= (n.4829-35C=) | |
12 | g.51806247C>G | CA2618841181 | SCN8A | c.4796-35C>G (n.4796-35C>G) c.2860-35C>G c.4673-35C>G (n.4673-35C>G) c.4829-35C>G (n.4829-35C>G) | gnomAD v4 |
12 | g.51806248T>C | CA2618841183 | SCN8A | c.4796-34T>C (n.4796-34T>C) c.2860-34T>C c.4673-34T>C (n.4673-34T>C) c.4829-34T>C (n.4829-34T>C) | gnomAD v4 |
12 | g.51806248T>G | CA2618841187 | SCN8A | c.4796-34T>G (n.4796-34T>G) c.2860-34T>G c.4673-34T>G (n.4673-34T>G) c.4829-34T>G (n.4829-34T>G) | gnomAD v4 |
12 | g.51806249C>A | CA2618841206 | SCN8A | c.4796-33C>A (n.4796-33C>A) c.2860-33C>A c.4673-33C>A (n.4673-33C>A) c.4829-33C>A (n.4829-33C>A) | gnomAD v4 |
12 | g.51806249C>G | CA2618841207 | SCN8A | c.4796-33C>G (n.4796-33C>G) c.2860-33C>G c.4673-33C>G (n.4673-33C>G) c.4829-33C>G (n.4829-33C>G) | gnomAD v4 |
12 | g.51806249C>T | CA2575160521 | SCN8A | c.4796-33C>T (n.4796-33C>T) c.2860-33C>T c.4673-33C>T (n.4673-33C>T) c.4829-33C>T (n.4829-33C>T) | |
12 | g.51806251A= | CA2036192322 | SCN8A | c.4796-31A= (n.4796-31A=) c.2860-31A= c.4673-31A= (n.4673-31A=) c.4829-31A= (n.4829-31A=) | |
12 | g.51806251A>C | CA2618841211 | SCN8A | c.4796-31A>C (n.4796-31A>C) c.2860-31A>C c.4673-31A>C (n.4673-31A>C) c.4829-31A>C (n.4829-31A>C) | gnomAD v4 |
12 | g.51806251A>G | CA689803576 | SCN8A | c.4796-31A>G (n.4796-31A>G) c.2860-31A>G c.4673-31A>G (n.4673-31A>G) c.4829-31A>G (n.4829-31A>G) | dbSNP gnomAD v4 |
12 | g.51806253A>C | CA2618841215 | SCN8A | c.4796-29A>C (n.4796-29A>C) c.2860-29A>C c.4673-29A>C (n.4673-29A>C) c.4829-29A>C (n.4829-29A>C) | gnomAD v4 |
12 | g.51806253A>G | CA2575160522 | SCN8A | c.4796-29A>G (n.4796-29A>G) c.2860-29A>G c.4673-29A>G (n.4673-29A>G) c.4829-29A>G (n.4829-29A>G) | |
12 | g.51806254A>G | CA2618841218 | SCN8A | c.4796-28A>G (n.4796-28A>G) c.2860-28A>G c.4673-28A>G (n.4673-28A>G) c.4829-28A>G (n.4829-28A>G) | gnomAD v4 |
12 | g.51806254A>T | CA2618841219 | SCN8A | c.4796-28A>T (n.4796-28A>T) c.2860-28A>T c.4673-28A>T (n.4673-28A>T) c.4829-28A>T (n.4829-28A>T) | gnomAD v4 |
12 | g.51806255C>A | CA2618841222 | SCN8A | c.4796-27C>A (n.4796-27C>A) c.2860-27C>A c.4673-27C>A (n.4673-27C>A) c.4829-27C>A (n.4829-27C>A) | gnomAD v4 |
12 | g.51806255C= | CA2036192326 | SCN8A | c.4796-27C= (n.4796-27C=) c.2860-27C= c.4673-27C= (n.4673-27C=) c.4829-27C= (n.4829-27C=) | |
12 | g.51806255C>T | CA6571868 | SCN8A | c.4796-27C>T (n.4796-27C>T) c.2860-27C>T c.4673-27C>T (n.4673-27C>T) c.4829-27C>T (n.4829-27C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806256A= | CA2036192653 | SCN8A | c.4796-26A= (n.4796-26A=) c.2860-26A= c.4673-26A= (n.4673-26A=) c.4829-26A= (n.4829-26A=) | |
12 | g.51806256A>G | CA6571870 | SCN8A | c.4796-26A>G (n.4796-26A>G) c.2860-26A>G c.4673-26A>G (n.4673-26A>G) c.4829-26A>G (n.4829-26A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806256A>T | CA6571869 | SCN8A | c.4796-26A>T (n.4796-26A>T) c.2860-26A>T c.4673-26A>T (n.4673-26A>T) c.4829-26A>T (n.4829-26A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806257_51806258del | CA2618841273 | SCN8A | c.4796-25_4796-24del (n.4796-25_4796-24del) c.2860-25_2860-24del c.4673-25_4673-24del (n.4673-25_4673-24del) c.4829-25_4829-24del (n.4829-25_4829-24del) | gnomAD v4 |
12 | g.51806257T>C | CA2618841276 | SCN8A | c.4796-25T>C (n.4796-25T>C) c.2860-25T>C c.4673-25T>C (n.4673-25T>C) c.4829-25T>C (n.4829-25T>C) | gnomAD v4 |
12 | g.51806258A>C | CA2618841278 | SCN8A | c.4796-24A>C (n.4796-24A>C) c.2860-24A>C c.4673-24A>C (n.4673-24A>C) c.4829-24A>C (n.4829-24A>C) | gnomAD v4 |
12 | g.51806258_51806261delinsAACT | CA2036192656 | SCN8A | c.4796-24_4796-21delinsAACT (n.4796-24_4796-21delinsAACT) c.2860-24_2860-21delinsAACT c.4673-24_4673-21delinsAACT (n.4673-24_4673-21delinsAACT) c.4829-24_4829-21delinsAACT (n.4829-24_4829-21delinsAACT) | |
12 | g.51806259_51806261del | CA2036192658 | SCN8A | c.4796-23_4796-21del (n.4796-23_4796-21del) c.2860-23_2860-21del c.4673-23_4673-21del (n.4673-23_4673-21del) c.4829-23_4829-21del (n.4829-23_4829-21del) | dbSNP |
12 | g.51806260C>A | CA2618841279 | SCN8A | c.4796-22C>A (n.4796-22C>A) c.2860-22C>A c.4673-22C>A (n.4673-22C>A) c.4829-22C>A (n.4829-22C>A) | gnomAD v4 |
12 | g.51806265_51806267del | CA2795967142 | SCN8A | c.4796-17_4796-15del (n.4796-17_4796-15del) c.2860-17_2860-15del c.4673-17_4673-15del (n.4673-17_4673-15del) c.4829-17_4829-15del (n.4829-17_4829-15del) | |
12 | g.51806261T>A | CA2618841282 | SCN8A | c.4796-21T>A (n.4796-21T>A) c.2860-21T>A c.4673-21T>A (n.4673-21T>A) c.4829-21T>A (n.4829-21T>A) | gnomAD v4 |
12 | g.51806261T>G | CA2618841284 | SCN8A | c.4796-21T>G (n.4796-21T>G) c.2860-21T>G c.4673-21T>G (n.4673-21T>G) c.4829-21T>G (n.4829-21T>G) | gnomAD v4 |
12 | g.51806262T>A | CA2618841285 | SCN8A | c.4796-20T>A (n.4796-20T>A) c.2860-20T>A c.4673-20T>A (n.4673-20T>A) c.4829-20T>A (n.4829-20T>A) | gnomAD v4 |
12 | g.51806262T>G | CA2618841286 | SCN8A | c.4796-20T>G (n.4796-20T>G) c.2860-20T>G c.4673-20T>G (n.4673-20T>G) c.4829-20T>G (n.4829-20T>G) | gnomAD v4 |
12 | g.51806263C>A | CA2618841289 | SCN8A | c.4796-19C>A (n.4796-19C>A) c.2860-19C>A c.4673-19C>A (n.4673-19C>A) c.4829-19C>A (n.4829-19C>A) | gnomAD v4 |
12 | g.51806263C>G | CA2618841291 | SCN8A | c.4796-19C>G (n.4796-19C>G) c.2860-19C>G c.4673-19C>G (n.4673-19C>G) c.4829-19C>G (n.4829-19C>G) | gnomAD v4 |
12 | g.51806263C>T | CA2618841294 | SCN8A | c.4796-19C>T (n.4796-19C>T) c.2860-19C>T c.4673-19C>T (n.4673-19C>T) c.4829-19C>T (n.4829-19C>T) | gnomAD v4 |
12 | g.51806266C>A | CA2618841298 | SCN8A | c.4796-16C>A (n.4796-16C>A) c.2860-16C>A c.4673-16C>A (n.4673-16C>A) c.4829-16C>A (n.4829-16C>A) | gnomAD v4 |
12 | g.51806266C= | CA2036192661 | SCN8A | c.4796-16C= (n.4796-16C=) c.2860-16C= c.4673-16C= (n.4673-16C=) c.4829-16C= (n.4829-16C=) | |
12 | g.51806266C>G | CA2036192662 | SCN8A | c.4796-16C>G (n.4796-16C>G) c.2860-16C>G c.4673-16C>G (n.4673-16C>G) c.4829-16C>G (n.4829-16C>G) | dbSNP |
12 | g.51806268_51806269dup | CA2739272033 | SCN8A | c.4796-14_4796-13dup (n.4796-14_4796-13dup) c.2860-14_2860-13dup c.4673-14_4673-13dup (n.4673-14_4673-13dup) c.4829-14_4829-13dup (n.4829-14_4829-13dup) | ClinVar |
12 | g.51806268A>G | CA2618841299 | SCN8A | c.4796-14A>G (n.4796-14A>G) c.2860-14A>G c.4673-14A>G (n.4673-14A>G) c.4829-14A>G (n.4829-14A>G) | gnomAD v4 |
12 | g.51806269T>C | CA2618841301 | SCN8A | c.4796-13T>C (n.4796-13T>C) c.2860-13T>C c.4673-13T>C (n.4673-13T>C) c.4829-13T>C (n.4829-13T>C) | gnomAD v4 |
12 | g.51806271C>A | CA2618841305 | SCN8A | c.4796-11C>A (n.4796-11C>A) c.2860-11C>A c.4673-11C>A (n.4673-11C>A) c.4829-11C>A (n.4829-11C>A) | gnomAD v4 |
12 | g.51806271C>G | CA2795967143 | SCN8A | c.4796-11C>G (n.4796-11C>G) c.2860-11C>G c.4673-11C>G (n.4673-11C>G) c.4829-11C>G (n.4829-11C>G) | |
12 | g.51806271C>T | CA2618841304 | SCN8A | c.4796-11C>T (n.4796-11C>T) c.2860-11C>T c.4673-11C>T (n.4673-11C>T) c.4829-11C>T (n.4829-11C>T) | gnomAD v4 |
12 | g.51806272C>A | CA2618841308 | SCN8A | c.4796-10C>A (n.4796-10C>A) c.2860-10C>A c.4673-10C>A (n.4673-10C>A) c.4829-10C>A (n.4829-10C>A) | gnomAD v4 |
12 | g.51806272C= | CA2036192664 | SCN8A | c.4796-10C= (n.4796-10C=) c.2860-10C= c.4673-10C= (n.4673-10C=) c.4829-10C= (n.4829-10C=) | |
12 | g.51806272C>G | CA2575160523 | SCN8A | c.4796-10C>G (n.4796-10C>G) c.2860-10C>G c.4673-10C>G (n.4673-10C>G) c.4829-10C>G (n.4829-10C>G) | ClinVar gnomAD v4 |
12 | g.51806272C>T | CA689803587 | SCN8A | c.4796-10C>T (n.4796-10C>T) c.2860-10C>T c.4673-10C>T (n.4673-10C>T) c.4829-10C>T (n.4829-10C>T) | ClinVar dbSNP gnomAD v4 |
12 | g.51806274C>A | CA2618841316 | SCN8A | c.4796-8C>A (n.4796-8C>A) c.2860-8C>A c.4673-8C>A (n.4673-8C>A) c.4829-8C>A (n.4829-8C>A) | gnomAD v4 |
12 | g.51806274C= | CA2036192665 | SCN8A | c.4796-8C= (n.4796-8C=) c.2860-8C= c.4673-8C= (n.4673-8C=) c.4829-8C= (n.4829-8C=) | |
12 | g.51806274C>T | CA6571871 | SCN8A | c.4796-8C>T (n.4796-8C>T) c.2860-8C>T c.4673-8C>T (n.4673-8C>T) c.4829-8C>T (n.4829-8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806277C>T | CA2618841322 | SCN8A | c.4796-5C>T (n.4796-5C>T) c.2860-5C>T c.4673-5C>T (n.4673-5C>T) c.4829-5C>T (n.4829-5C>T) | gnomAD v4 |
12 | g.51806280A>C | CA384880247 | SCN8A | c.4796-2A>C (n.4796-2A>C) c.2860-2A>C c.4673-2A>C (n.4673-2A>C) c.4829-2A>C (n.4829-2A>C) | |
12 | g.51806280A>G | CA384880248 | SCN8A | c.4796-2A>G (n.4796-2A>G) c.2860-2A>G c.4673-2A>G (n.4673-2A>G) c.4829-2A>G (n.4829-2A>G) | |
12 | g.51806280A>T | CA384880249 | SCN8A | c.4796-2A>T (n.4796-2A>T) c.2860-2A>T c.4673-2A>T (n.4673-2A>T) c.4829-2A>T (n.4829-2A>T) | |
12 | g.51806281G>A | CA384880250 | SCN8A | c.4796-1G>A (n.4796-1G>A) c.2860-1G>A c.4673-1G>A (n.4673-1G>A) c.4829-1G>A (n.4829-1G>A) | |
12 | g.51806281G>C | CA384880251 | SCN8A | c.4796-1G>C (n.4796-1G>C) c.2860-1G>C c.4673-1G>C (n.4673-1G>C) c.4829-1G>C (n.4829-1G>C) | |
12 | g.51806281G>T | CA384880252 | SCN8A | c.4796-1G>T (n.4796-1G>T) c.2860-1G>T c.4673-1G>T (n.4673-1G>T) c.4829-1G>T (n.4829-1G>T) | gnomAD v4 |
12 | g.51806282G>A | CA384880253 | SCN8A | c.4796G>A (p.Gly1599Glu) c.2860G>A c.4673G>A (p.Gly1558Glu) c.4829G>A (p.Gly1610Glu) | |
12 | g.51806282G>C | CA384880255 | SCN8A | c.4796G>C (p.Gly1599Ala) c.2860G>C c.4673G>C (p.Gly1558Ala) c.4829G>C (p.Gly1610Ala) | |
12 | g.51806282G>T | CA384880254 | SCN8A | c.4796G>T (p.Gly1599Val) c.2860G>T c.4673G>T (p.Gly1558Val) c.4829G>T (p.Gly1610Val) | gnomAD v4 |
12 | g.51806283A>C | CA479787987 | SCN8A | c.4797A>C (p.Gly1599=) c.2861A>C c.4674A>C (p.Gly1558=) c.4830A>C (p.Gly1610=) | |
12 | g.51806283A>G | CA479787988 | SCN8A | c.4797A>G (p.Gly1599=) c.2861A>G c.4674A>G (p.Gly1558=) c.4830A>G (p.Gly1610=) | |
12 | g.51806283A>T | CA479787989 | SCN8A | c.4797A>T (p.Gly1599=) c.2861A>T c.4674A>T (p.Gly1558=) c.4830A>T (p.Gly1610=) | |
12 | g.51806284A= | CA2036192673 | SCN8A | c.4798A= (p.Met1600=) c.2862A= c.4675A= (p.Met1559=) c.4831A= (p.Met1611=) | |
12 | g.51806284A>C | CA384880256 | SCN8A | c.4798A>C (p.Met1600Leu) c.2862A>C c.4675A>C (p.Met1559Leu) c.4831A>C (p.Met1611Leu) | |
12 | g.51806284A>G | CA318286 | SCN8A | c.4798A>G (p.Met1600Val) c.2862A>G c.4675A>G (p.Met1559Val) c.4831A>G (p.Met1611Val) | ClinVar dbSNP |
12 | g.51806284A>T | CA384880257 | SCN8A | c.4798A>T (p.Met1600Leu) c.2862A>T c.4675A>T (p.Met1559Leu) c.4831A>T (p.Met1611Leu) | |
12 | g.51806285T>A | CA384880258 | SCN8A | c.4799T>A (p.Met1600Lys) c.2863T>A c.4676T>A (p.Met1559Lys) c.4832T>A (p.Met1611Lys) | |
12 | g.51806285T>C | CA384880259 | SCN8A | c.4799T>C (p.Met1600Thr) c.2863T>C c.4676T>C (p.Met1559Thr) c.4832T>C (p.Met1611Thr) | |
12 | g.51806285T>G | CA384880260 | SCN8A | c.4799T>G (p.Met1600Arg) c.2863T>G c.4676T>G (p.Met1559Arg) c.4832T>G (p.Met1611Arg) | |
12 | g.51806286G>A | CA384880261 | SCN8A | c.4800G>A (p.Met1600Ile) c.2864G>A c.4677G>A (p.Met1559Ile) c.4833G>A (p.Met1611Ile) | ClinVar dbSNP |
12 | g.51806286G>C | CA384880262 | SCN8A | c.4800G>C (p.Met1600Ile) c.2864G>C c.4677G>C (p.Met1559Ile) c.4833G>C (p.Met1611Ile) | |
12 | g.51806286G= | CA2036192686 | SCN8A | c.4800G= (p.Met1600=) c.2864G= c.4677G= (p.Met1559=) c.4833G= (p.Met1611=) | |
12 | g.51806286G>T | CA384880263 | SCN8A | c.4800G>T (p.Met1600Ile) c.2864G>T c.4677G>T (p.Met1559Ile) c.4833G>T (p.Met1611Ile) | |
12 | g.51806287T>A | CA384880264 | SCN8A | c.4801T>A (p.Phe1601Ile) c.2865T>A c.4678T>A (p.Phe1560Ile) c.4834T>A (p.Phe1612Ile) | |
12 | g.51806287T>C | CA384880265 | SCN8A | c.4801T>C (p.Phe1601Leu) c.2865T>C c.4678T>C (p.Phe1560Leu) c.4834T>C (p.Phe1612Leu) | |
12 | g.51806287T>G | CA384880266 | SCN8A | c.4801T>G (p.Phe1601Val) c.2865T>G c.4678T>G (p.Phe1560Val) c.4834T>G (p.Phe1612Val) | |
12 | g.51806288T>A | CA384880267 | SCN8A | c.4802T>A (p.Phe1601Tyr) c.2866T>A c.4679T>A (p.Phe1560Tyr) c.4835T>A (p.Phe1612Tyr) | |
12 | g.51806288T>C | CA384880268 | SCN8A | c.4802T>C (p.Phe1601Ser) c.2866T>C c.4679T>C (p.Phe1560Ser) c.4835T>C (p.Phe1612Ser) | |
12 | g.51806288T>G | CA384880269 | SCN8A | c.4802T>G (p.Phe1601Cys) c.2866T>G c.4679T>G (p.Phe1560Cys) c.4835T>G (p.Phe1612Cys) | |
12 | g.51806289C>A | CA384880271 | SCN8A | c.4803C>A (p.Phe1601Leu) c.2867C>A c.4680C>A (p.Phe1560Leu) c.4836C>A (p.Phe1612Leu) | |
12 | g.51806289C>G | CA384880270 | SCN8A | c.4803C>G (p.Phe1601Leu) c.2867C>G c.4680C>G (p.Phe1560Leu) c.4836C>G (p.Phe1612Leu) | |
12 | g.51806289C>T | CA479787990 | SCN8A | c.4803C>T (p.Phe1601=) c.2867C>T c.4680C>T (p.Phe1560=) c.4836C>T (p.Phe1612=) | |
12 | g.51806290C>A | CA384880272 | SCN8A | c.4804C>A (p.Leu1602Met) c.2868C>A c.4681C>A (p.Leu1561Met) c.4837C>A (p.Leu1613Met) | |
12 | g.51806290C>G | CA384880273 | SCN8A | c.4804C>G (p.Leu1602Val) c.2868C>G c.4681C>G (p.Leu1561Val) c.4837C>G (p.Leu1613Val) | |
12 | g.51806290C>T | CA479787991 | SCN8A | c.4804C>T (p.Leu1602=) c.2868C>T c.4681C>T (p.Leu1561=) c.4837C>T (p.Leu1613=) | |
12 | g.51806291T>A | CA384880274 | SCN8A | c.4805T>A (p.Leu1602Gln) c.2869T>A c.4682T>A (p.Leu1561Gln) c.4838T>A (p.Leu1613Gln) | |
12 | g.51806291T>C | CA384880275 | SCN8A | c.4805T>C (p.Leu1602Pro) c.2869T>C c.4682T>C (p.Leu1561Pro) c.4838T>C (p.Leu1613Pro) | |
12 | g.51806291T>G | CA384880276 | SCN8A | c.4805T>G (p.Leu1602Arg) c.2869T>G c.4682T>G (p.Leu1561Arg) c.4838T>G (p.Leu1613Arg) | |
12 | g.51806292G>A | CA6571872 | SCN8A | c.4806G>A (p.Leu1602=) c.2870G>A c.4683G>A (p.Leu1561=) c.4839G>A (p.Leu1613=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806292G>C | CA479787992 | SCN8A | c.4806G>C (p.Leu1602=) c.2870G>C c.4683G>C (p.Leu1561=) c.4839G>C (p.Leu1613=) | |
12 | g.51806292G= | CA2036192691 | SCN8A | c.4806G= (p.Leu1602=) c.2870G= c.4683G= (p.Leu1561=) c.4839G= (p.Leu1613=) | |
12 | g.51806292G>T | CA479787993 | SCN8A | c.4806G>T (p.Leu1602=) c.2870G>T c.4683G>T (p.Leu1561=) c.4839G>T (p.Leu1613=) | |
12 | g.51806293G>A | CA384880277 | SCN8A | c.4807G>A (p.Ala1603Thr) c.2871G>A c.4684G>A (p.Ala1562Thr) c.4840G>A (p.Ala1614Thr) | |
12 | g.51806293G>C | CA384880278 | SCN8A | c.4807G>C (p.Ala1603Pro) c.2871G>C c.4684G>C (p.Ala1562Pro) c.4840G>C (p.Ala1614Pro) | |
12 | g.51806293G>T | CA384880279 | SCN8A | c.4807G>T (p.Ala1603Ser) c.2871G>T c.4684G>T (p.Ala1562Ser) c.4840G>T (p.Ala1614Ser) | |
12 | g.51806294C>A | CA384880280 | SCN8A | c.4808C>A (p.Ala1603Glu) c.2872C>A c.4685C>A (p.Ala1562Glu) c.4841C>A (p.Ala1614Glu) | gnomAD v4 |
12 | g.51806294C>G | CA384880281 | SCN8A | c.4808C>G (p.Ala1603Gly) c.2872C>G c.4685C>G (p.Ala1562Gly) c.4841C>G (p.Ala1614Gly) | |
12 | g.51806294C>T | CA384880282 | SCN8A | c.4808C>T (p.Ala1603Val) c.2872C>T c.4685C>T (p.Ala1562Val) c.4841C>T (p.Ala1614Val) | gnomAD v4 |
12 | g.51806295A>C | CA479787994 | SCN8A | c.4809A>C (p.Ala1603=) c.2873A>C c.4686A>C (p.Ala1562=) c.4842A>C (p.Ala1614=) | |
12 | g.51806295A>G | CA479787995 | SCN8A | c.4809A>G (p.Ala1603=) c.2873A>G c.4686A>G (p.Ala1562=) c.4842A>G (p.Ala1614=) | COSMIC COSMIC |
12 | g.51806295A>T | CA479787996 | SCN8A | c.4809A>T (p.Ala1603=) c.2873A>T c.4686A>T (p.Ala1562=) c.4842A>T (p.Ala1614=) | |
12 | g.51806296G>A | CA384880285 | SCN8A | c.4810G>A (p.Asp1604Asn) c.2874G>A c.4687G>A (p.Asp1563Asn) c.4843G>A (p.Asp1615Asn) | |
12 | g.51806296G>C | CA384880284 | SCN8A | c.4810G>C (p.Asp1604His) c.2874G>C c.4687G>C (p.Asp1563His) c.4843G>C (p.Asp1615His) | |
12 | g.51806296G>T | CA384880283 | SCN8A | c.4810G>T (p.Asp1604Tyr) c.2874G>T c.4687G>T (p.Asp1563Tyr) c.4843G>T (p.Asp1615Tyr) | |
12 | g.51806297A>C | CA384880288 | SCN8A | c.4811A>C (p.Asp1604Ala) c.2875A>C c.4688A>C (p.Asp1563Ala) c.4844A>C (p.Asp1615Ala) | |
12 | g.51806297A>G | CA384880286 | SCN8A | c.4811A>G (p.Asp1604Gly) c.2875A>G c.4688A>G (p.Asp1563Gly) c.4844A>G (p.Asp1615Gly) | |
12 | g.51806297A>T | CA384880287 | SCN8A | c.4811A>T (p.Asp1604Val) c.2875A>T c.4688A>T (p.Asp1563Val) c.4844A>T (p.Asp1615Val) | |
12 | g.51806298T>A | CA384880289 | SCN8A | c.4812T>A (p.Asp1604Glu) c.2876T>A c.4689T>A (p.Asp1563Glu) c.4845T>A (p.Asp1615Glu) | |
12 | g.51806298T>C | CA479787997 | SCN8A | c.4812T>C (p.Asp1604=) c.2876T>C c.4689T>C (p.Asp1563=) c.4845T>C (p.Asp1615=) | dbSNP |
12 | g.51806298T>G | CA384880290 | SCN8A | c.4812T>G (p.Asp1604Glu) c.2876T>G c.4689T>G (p.Asp1563Glu) c.4845T>G (p.Asp1615Glu) | |
12 | g.51806298T= | CA2036192701 | SCN8A | c.4812T= (p.Asp1604=) c.2876T= c.4689T= (p.Asp1563=) c.4845T= (p.Asp1615=) | |
12 | g.51806299A= | CA2036192710 | SCN8A | c.4813A= (p.Ile1605=) c.2877A= c.4690A= (p.Ile1564=) c.4846A= (p.Ile1616=) | |
12 | g.51806299A>C | CA384880291 | SCN8A | c.4813A>C (p.Ile1605Leu) c.2877A>C c.4690A>C (p.Ile1564Leu) c.4846A>C (p.Ile1616Leu) | |
12 | g.51806299A>G | CA10586304 | SCN8A | c.4813A>G (p.Ile1605Val) c.2877A>G c.4690A>G (p.Ile1564Val) c.4846A>G (p.Ile1616Val) | ClinVar dbSNP |
12 | g.51806299A>T | CA384880292 | SCN8A | c.4813A>T (p.Ile1605Leu) c.2877A>T c.4690A>T (p.Ile1564Leu) c.4846A>T (p.Ile1616Leu) | |
12 | g.51806300T>A | CA384880293 | SCN8A | c.4814T>A (p.Ile1605Lys) c.2878T>A c.4691T>A (p.Ile1564Lys) c.4847T>A (p.Ile1616Lys) | |
12 | g.51806300T>C | CA384880295 | SCN8A | c.4814T>C (p.Ile1605Thr) c.2878T>C c.4691T>C (p.Ile1564Thr) c.4847T>C (p.Ile1616Thr) | ClinVar dbSNP |
12 | g.51806300T>G | CA384880294 | SCN8A | c.4814T>G (p.Ile1605Arg) c.2878T>G c.4691T>G (p.Ile1564Arg) c.4847T>G (p.Ile1616Arg) | |
12 | g.51806301A>C | CA479787998 | SCN8A | c.4815A>C (p.Ile1605=) c.2879A>C c.4692A>C (p.Ile1564=) c.4848A>C (p.Ile1616=) | |
12 | g.51806301A>G | CA384880296 | SCN8A | c.4815A>G (p.Ile1605Met) c.2879A>G c.4692A>G (p.Ile1564Met) c.4848A>G (p.Ile1616Met) | |
12 | g.51806301A>T | CA479787999 | SCN8A | c.4815A>T (p.Ile1605=) c.2879A>T c.4692A>T (p.Ile1564=) c.4848A>T (p.Ile1616=) | |
12 | g.51806302A>C | CA384880297 | SCN8A | c.4816A>C (p.Ile1606Leu) c.2880A>C c.4693A>C (p.Ile1565Leu) c.4849A>C (p.Ile1617Leu) | |
12 | g.51806302A>G | CA384880298 | SCN8A | c.4816A>G (p.Ile1606Val) c.2880A>G c.4693A>G (p.Ile1565Val) c.4849A>G (p.Ile1617Val) | |
12 | g.51806302A>T | CA384880299 | SCN8A | c.4816A>T (p.Ile1606Phe) c.2880A>T c.4693A>T (p.Ile1565Phe) c.4849A>T (p.Ile1617Phe) | |
12 | g.51806303T>A | CA384880300 | SCN8A | c.4817T>A (p.Ile1606Asn) c.2881T>A c.4694T>A (p.Ile1565Asn) c.4850T>A (p.Ile1617Asn) | |
12 | g.51806303T>C | CA384880302 | SCN8A | c.4817T>C (p.Ile1606Thr) c.2881T>C c.4694T>C (p.Ile1565Thr) c.4850T>C (p.Ile1617Thr) | ClinVar dbSNP |
12 | g.51806303T>G | CA384880301 | SCN8A | c.4817T>G (p.Ile1606Ser) c.2881T>G c.4694T>G (p.Ile1565Ser) c.4850T>G (p.Ile1617Ser) | |
12 | g.51806304T>A | CA479788000 | SCN8A | c.4818T>A (p.Ile1606=) c.2882T>A c.4695T>A (p.Ile1565=) c.4851T>A (p.Ile1617=) | |
12 | g.51806304T>C | CA479788001 | SCN8A | c.4818T>C (p.Ile1606=) c.2882T>C c.4695T>C (p.Ile1565=) c.4851T>C (p.Ile1617=) | |
12 | g.51806304T>G | CA384880303 | SCN8A | c.4818T>G (p.Ile1606Met) c.2882T>G c.4695T>G (p.Ile1565Met) c.4851T>G (p.Ile1617Met) | |
12 | g.51806305G>A | CA384880304 | SCN8A | c.4819G>A (p.Glu1607Lys) c.2883G>A c.4696G>A (p.Glu1566Lys) c.4852G>A (p.Glu1618Lys) | ClinVar dbSNP COSMIC COSMIC |
12 | g.51806305G>C | CA384880305 | SCN8A | c.4819G>C (p.Glu1607Gln) c.2883G>C c.4696G>C (p.Glu1566Gln) c.4852G>C (p.Glu1618Gln) | COSMIC COSMIC |
12 | g.51806305G= | CA2036192718 | SCN8A | c.4819G= (p.Glu1607=) c.2883G= c.4696G= (p.Glu1566=) c.4852G= (p.Glu1618=) | |
12 | g.51806305G>T | CA384880306 | SCN8A | c.4819G>T (p.Glu1607Ter) c.2883G>T c.4696G>T (p.Glu1566Ter) c.4852G>T (p.Glu1618Ter) | dbSNP |
12 | g.51806306A>C | CA384880307 | SCN8A | c.4820A>C (p.Glu1607Ala) c.2884A>C c.4697A>C (p.Glu1566Ala) c.4853A>C (p.Glu1618Ala) | |
12 | g.51806306A>G | CA384880308 | SCN8A | c.4820A>G (p.Glu1607Gly) c.2884A>G c.4697A>G (p.Glu1566Gly) c.4853A>G (p.Glu1618Gly) | |
12 | g.51806306A>T | CA384880309 | SCN8A | c.4820A>T (p.Glu1607Val) c.2884A>T c.4697A>T (p.Glu1566Val) c.4853A>T (p.Glu1618Val) | |
12 | g.51806307G>A | CA479788003 | SCN8A | c.4821G>A (p.Glu1607=) c.2885G>A c.4698G>A (p.Glu1566=) c.4854G>A (p.Glu1618=) | |
12 | g.51806307G>C | CA384880310 | SCN8A | c.4821G>C (p.Glu1607Asp) c.2885G>C c.4698G>C (p.Glu1566Asp) c.4854G>C (p.Glu1618Asp) | |
12 | g.51806307G>T | CA384880311 | SCN8A | c.4821G>T (p.Glu1607Asp) c.2885G>T c.4698G>T (p.Glu1566Asp) c.4854G>T (p.Glu1618Asp) | |
12 | g.51806308A>C | CA384880312 | SCN8A | c.4822A>C (p.Lys1608Gln) c.2886A>C c.4699A>C (p.Lys1567Gln) c.4855A>C (p.Lys1619Gln) | |
12 | g.51806308A>G | CA384880313 | SCN8A | c.4822A>G (p.Lys1608Glu) c.2886A>G c.4699A>G (p.Lys1567Glu) c.4855A>G (p.Lys1619Glu) | |
12 | g.51806308A>T | CA384880314 | SCN8A | c.4822A>T (p.Lys1608Ter) c.2886A>T c.4699A>T (p.Lys1567Ter) c.4855A>T (p.Lys1619Ter) | |
12 | g.51806309A>C | CA384880317 | SCN8A | c.4823A>C (p.Lys1608Thr) c.2887A>C c.4700A>C (p.Lys1567Thr) c.4856A>C (p.Lys1619Thr) | gnomAD v4 |
12 | g.51806309A>G | CA384880316 | SCN8A | c.4823A>G (p.Lys1608Arg) c.2887A>G c.4700A>G (p.Lys1567Arg) c.4856A>G (p.Lys1619Arg) | |
12 | g.51806309A>T | CA384880315 | SCN8A | c.4823A>T (p.Lys1608Ile) c.2887A>T c.4700A>T (p.Lys1567Ile) c.4856A>T (p.Lys1619Ile) | |
12 | g.51806310A= | CA2036192728 | SCN8A | c.4824A= (p.Lys1608=) c.2888A= c.4701A= (p.Lys1567=) c.4857A= (p.Lys1619=) | |
12 | g.51806310A>C | CA384880318 | SCN8A | c.4824A>C (p.Lys1608Asn) c.2888A>C c.4701A>C (p.Lys1567Asn) c.4857A>C (p.Lys1619Asn) | |
12 | g.51806310A>G | CA479788004 | SCN8A | c.4824A>G (p.Lys1608=) c.2888A>G c.4701A>G (p.Lys1567=) c.4857A>G (p.Lys1619=) | dbSNP gnomAD v4 |
12 | g.51806310A>T | CA384880319 | SCN8A | c.4824A>T (p.Lys1608Asn) c.2888A>T c.4701A>T (p.Lys1567Asn) c.4857A>T (p.Lys1619Asn) | |
12 | g.51806311T>A | CA384880320 | SCN8A | c.4825T>A (p.Tyr1609Asn) c.2889T>A c.4702T>A (p.Tyr1568Asn) c.4858T>A (p.Tyr1620Asn) | |
12 | g.51806311T>C | CA384880321 | SCN8A | c.4825T>C (p.Tyr1609His) c.2889T>C c.4702T>C (p.Tyr1568His) c.4858T>C (p.Tyr1620His) | ClinVar dbSNP |
12 | g.51806311T>G | CA384880322 | SCN8A | c.4825T>G (p.Tyr1609Asp) c.2889T>G c.4702T>G (p.Tyr1568Asp) c.4858T>G (p.Tyr1620Asp) | |
12 | g.51806312A>C | CA384880323 | SCN8A | c.4826A>C (p.Tyr1609Ser) c.2890A>C c.4703A>C (p.Tyr1568Ser) c.4859A>C (p.Tyr1620Ser) | ClinVar |
12 | g.51806312A>G | CA384880324 | SCN8A | c.4826A>G (p.Tyr1609Cys) c.2890A>G c.4703A>G (p.Tyr1568Cys) c.4859A>G (p.Tyr1620Cys) | |
12 | g.51806312A>T | CA384880325 | SCN8A | c.4826A>T (p.Tyr1609Phe) c.2890A>T c.4703A>T (p.Tyr1568Phe) c.4859A>T (p.Tyr1620Phe) | |
12 | g.51806313C>A | CA384880326 | SCN8A | c.4827C>A (p.Tyr1609Ter) c.2891C>A c.4704C>A (p.Tyr1568Ter) c.4860C>A (p.Tyr1620Ter) | gnomAD v4 |
12 | g.51806313C>G | CA384880327 | SCN8A | c.4827C>G (p.Tyr1609Ter) c.2891C>G c.4704C>G (p.Tyr1568Ter) c.4860C>G (p.Tyr1620Ter) | |
12 | g.51806313C>T | CA479788005 | SCN8A | c.4827C>T (p.Tyr1609=) c.2891C>T c.4704C>T (p.Tyr1568=) c.4860C>T (p.Tyr1620=) | |
12 | g.51806314T>A | CA384880328 | SCN8A | c.4828T>A (p.Phe1610Ile) c.2892T>A c.4705T>A (p.Phe1569Ile) c.4861T>A (p.Phe1621Ile) | |
12 | g.51806314T>C | CA384880329 | SCN8A | c.4828T>C (p.Phe1610Leu) c.2892T>C c.4705T>C (p.Phe1569Leu) c.4861T>C (p.Phe1621Leu) | |
12 | g.51806314T>G | CA384880330 | SCN8A | c.4828T>G (p.Phe1610Val) c.2892T>G c.4705T>G (p.Phe1569Val) c.4861T>G (p.Phe1621Val) | |
12 | g.51806315T>A | CA384880331 | SCN8A | c.4829T>A (p.Phe1610Tyr) c.2893T>A c.4706T>A (p.Phe1569Tyr) c.4862T>A (p.Phe1621Tyr) | |
12 | g.51806315T>C | CA384880332 | SCN8A | c.4829T>C (p.Phe1610Ser) c.2893T>C c.4706T>C (p.Phe1569Ser) c.4862T>C (p.Phe1621Ser) | |
12 | g.51806315T>G | CA384880333 | SCN8A | c.4829T>G (p.Phe1610Cys) c.2893T>G c.4706T>G (p.Phe1569Cys) c.4862T>G (p.Phe1621Cys) | |
12 | g.51806316T>A | CA384880334 | SCN8A | c.4830T>A (p.Phe1610Leu) c.2894T>A c.4707T>A (p.Phe1569Leu) c.4863T>A (p.Phe1621Leu) | |
12 | g.51806316T>C | CA6571873 | SCN8A | c.4830T>C (p.Phe1610=) c.2894T>C c.4707T>C (p.Phe1569=) c.4863T>C (p.Phe1621=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806316T>G | CA384880335 | SCN8A | c.4830T>G (p.Phe1610Leu) c.2894T>G c.4707T>G (p.Phe1569Leu) c.4863T>G (p.Phe1621Leu) | |
12 | g.51806316T= | CA2036192739 | SCN8A | c.4830T= (p.Phe1610=) c.2894T= c.4707T= (p.Phe1569=) c.4863T= (p.Phe1621=) | |
12 | g.51806317G>A | CA384880336 | SCN8A | c.4831G>A (p.Val1611Ile) c.2895G>A c.4708G>A (p.Val1570Ile) c.4864G>A (p.Val1622Ile) | |
12 | g.51806317G>C | CA384880337 | SCN8A | c.4831G>C (p.Val1611Leu) c.2895G>C c.4708G>C (p.Val1570Leu) c.4864G>C (p.Val1622Leu) | |
12 | g.51806317G>T | CA384880338 | SCN8A | c.4831G>T (p.Val1611Phe) c.2895G>T c.4708G>T (p.Val1570Phe) c.4864G>T (p.Val1622Phe) | |
12 | g.51806318T>A | CA384880339 | SCN8A | c.4832T>A (p.Val1611Asp) c.2896T>A c.4709T>A (p.Val1570Asp) c.4865T>A (p.Val1622Asp) | |
12 | g.51806318T>C | CA384880340 | SCN8A | c.4832T>C (p.Val1611Ala) c.2896T>C c.4709T>C (p.Val1570Ala) c.4865T>C (p.Val1622Ala) | |
12 | g.51806318T>G | CA384880341 | SCN8A | c.4832T>G (p.Val1611Gly) c.2896T>G c.4709T>G (p.Val1570Gly) c.4865T>G (p.Val1622Gly) | |
12 | g.51806319T>A | CA479788008 | SCN8A | c.4833T>A (p.Val1611=) c.2897T>A c.4710T>A (p.Val1570=) c.4866T>A (p.Val1622=) | |
12 | g.51806319T>C | CA479788009 | SCN8A | c.4833T>C (p.Val1611=) c.2897T>C c.4710T>C (p.Val1570=) c.4866T>C (p.Val1622=) | gnomAD v4 |
12 | g.51806319T>G | CA479788010 | SCN8A | c.4833T>G (p.Val1611=) c.2897T>G c.4710T>G (p.Val1570=) c.4866T>G (p.Val1622=) | |
12 | g.51806320T>A | CA384880342 | SCN8A | c.4834T>A (p.Ser1612Thr) c.2898T>A c.4711T>A (p.Ser1571Thr) c.4867T>A (p.Ser1623Thr) | |
12 | g.51806320T>C | CA384880343 | SCN8A | c.4834T>C (p.Ser1612Pro) c.2898T>C c.4711T>C (p.Ser1571Pro) c.4867T>C (p.Ser1623Pro) | |
12 | g.51806320T>G | CA384880344 | SCN8A | c.4834T>G (p.Ser1612Ala) c.2898T>G c.4711T>G (p.Ser1571Ala) c.4867T>G (p.Ser1623Ala) | |
12 | g.51806321C>A | CA384880346 | SCN8A | c.4835C>A (p.Ser1612Tyr) c.2899C>A c.4712C>A (p.Ser1571Tyr) c.4868C>A (p.Ser1623Tyr) | |
12 | g.51806321C>G | CA384880347 | SCN8A | c.4835C>G (p.Ser1612Cys) c.2899C>G c.4712C>G (p.Ser1571Cys) c.4868C>G (p.Ser1623Cys) | |
12 | g.51806321C>T | CA384880348 | SCN8A | c.4835C>T (p.Ser1612Phe) c.2899C>T c.4712C>T (p.Ser1571Phe) c.4868C>T (p.Ser1623Phe) | |
12 | g.51806322C>A | CA479788012 | SCN8A | c.4836C>A (p.Ser1612=) c.2900C>A c.4713C>A (p.Ser1571=) c.4869C>A (p.Ser1623=) | |
12 | g.51806322C>G | CA479788013 | SCN8A | c.4836C>G (p.Ser1612=) c.2900C>G c.4713C>G (p.Ser1571=) c.4869C>G (p.Ser1623=) | |
12 | g.51806322C>T | CA479788014 | SCN8A | c.4836C>T (p.Ser1612=) c.2900C>T c.4713C>T (p.Ser1571=) c.4869C>T (p.Ser1623=) | ClinVar dbSNP gnomAD v4 |
12 | g.51806323C>A | CA384880349 | SCN8A | c.4837C>A (p.Pro1613Thr) c.2901C>A c.4714C>A (p.Pro1572Thr) c.4870C>A (p.Pro1624Thr) | gnomAD v4 |
12 | g.51806323C= | CA2036192749 | SCN8A | c.4837C= (p.Pro1613=) c.2901C= c.4714C= (p.Pro1572=) c.4870C= (p.Pro1624=) | |
12 | g.51806323C>G | CA236327317 | SCN8A | c.4837C>G (p.Pro1613Ala) c.2901C>G c.4714C>G (p.Pro1572Ala) c.4870C>G (p.Pro1624Ala) | dbSNP |
12 | g.51806323C>T | CA384880350 | SCN8A | c.4837C>T (p.Pro1613Ser) c.2901C>T c.4714C>T (p.Pro1572Ser) c.4870C>T (p.Pro1624Ser) | COSMIC COSMIC |
12 | g.51806324C>A | CA384880351 | SCN8A | c.4838C>A (p.Pro1613Gln) c.2902C>A c.4715C>A (p.Pro1572Gln) c.4871C>A (p.Pro1624Gln) | gnomAD v4 |
12 | g.51806324C>G | CA384880352 | SCN8A | c.4838C>G (p.Pro1613Arg) c.2902C>G c.4715C>G (p.Pro1572Arg) c.4871C>G (p.Pro1624Arg) | |
12 | g.51806324C>T | CA384880353 | SCN8A | c.4838C>T (p.Pro1613Leu) c.2902C>T c.4715C>T (p.Pro1572Leu) c.4871C>T (p.Pro1624Leu) | |
12 | g.51806325A= | CA2036192753 | SCN8A | c.4839A= (p.Pro1613=) c.2903A= c.4716A= (p.Pro1572=) c.4872A= (p.Pro1624=) | |
12 | g.51806325A>C | CA479788015 | SCN8A | c.4839A>C (p.Pro1613=) c.2903A>C c.4716A>C (p.Pro1572=) c.4872A>C (p.Pro1624=) | |
12 | g.51806325A>G | CA479788016 | SCN8A | c.4839A>G (p.Pro1613=) c.2903A>G c.4716A>G (p.Pro1572=) c.4872A>G (p.Pro1624=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51806325A>T | CA479788017 | SCN8A | c.4839A>T (p.Pro1613=) c.2903A>T c.4716A>T (p.Pro1572=) c.4872A>T (p.Pro1624=) | |
12 | g.51806326A= | CA2036192756 | SCN8A | c.4840A= (p.Thr1614=) c.2904A= c.4717A= (p.Thr1573=) c.4873A= (p.Thr1625=) | |
12 | g.51806326A>C | CA384880354 | SCN8A | c.4840A>C (p.Thr1614Pro) c.2904A>C c.4717A>C (p.Thr1573Pro) c.4873A>C (p.Thr1625Pro) | |
12 | g.51806326A>G | CA384880355 | SCN8A | c.4840A>G (p.Thr1614Ala) c.2904A>G c.4717A>G (p.Thr1573Ala) c.4873A>G (p.Thr1625Ala) | ClinVar dbSNP |
12 | g.51806326A>T | CA384880356 | SCN8A | c.4840A>T (p.Thr1614Ser) c.2904A>T c.4717A>T (p.Thr1573Ser) c.4873A>T (p.Thr1625Ser) | |
12 | g.51806327C>A | CA384880359 | SCN8A | c.4841C>A (p.Thr1614Asn) c.2905C>A c.4718C>A (p.Thr1573Asn) c.4874C>A (p.Thr1625Asn) | ClinVar |
12 | g.51806327C>G | CA384880357 | SCN8A | c.4841C>G (p.Thr1614Ser) c.2905C>G c.4718C>G (p.Thr1573Ser) c.4874C>G (p.Thr1625Ser) | |
12 | g.51806327C>T | CA384880358 | SCN8A | c.4841C>T (p.Thr1614Ile) c.2905C>T c.4718C>T (p.Thr1573Ile) c.4874C>T (p.Thr1625Ile) | |
12 | g.51806328C>A | CA479788019 | SCN8A | c.4842C>A (p.Thr1614=) c.2906C>A c.4719C>A (p.Thr1573=) c.4875C>A (p.Thr1625=) | |
12 | g.51806328C>G | CA479788021 | SCN8A | c.4842C>G (p.Thr1614=) c.2906C>G c.4719C>G (p.Thr1573=) c.4875C>G (p.Thr1625=) | |
12 | g.51806328C>T | CA479788022 | SCN8A | c.4842C>T (p.Thr1614=) c.2906C>T c.4719C>T (p.Thr1573=) c.4875C>T (p.Thr1625=) | ClinVar dbSNP |
12 | g.51806329C>A | CA384880360 | SCN8A | c.4843C>A (p.Leu1615Ile) c.2907C>A c.4720C>A (p.Leu1574Ile) c.4876C>A (p.Leu1626Ile) | |
12 | g.51806329C>G | CA384880361 | SCN8A | c.4843C>G (p.Leu1615Val) c.2907C>G c.4720C>G (p.Leu1574Val) c.4876C>G (p.Leu1626Val) | |
12 | g.51806329C>T | CA479788023 | SCN8A | c.4843C>T (p.Leu1615=) c.2907C>T c.4720C>T (p.Leu1574=) c.4876C>T (p.Leu1626=) | gnomAD v4 |
12 | g.51806330T>A | CA384880362 | SCN8A | c.4844T>A (p.Leu1615Gln) c.2908T>A c.4721T>A (p.Leu1574Gln) c.4877T>A (p.Leu1626Gln) | |
12 | g.51806330T>C | CA384880363 | SCN8A | c.4844T>C (p.Leu1615Pro) c.2908T>C c.4721T>C (p.Leu1574Pro) c.4877T>C (p.Leu1626Pro) | |
12 | g.51806330T>G | CA384880364 | SCN8A | c.4844T>G (p.Leu1615Arg) c.2908T>G c.4721T>G (p.Leu1574Arg) c.4877T>G (p.Leu1626Arg) | |
12 | g.51806331A>C | CA479788027 | SCN8A | c.4845A>C (p.Leu1615=) c.2909A>C c.4722A>C (p.Leu1574=) c.4878A>C (p.Leu1626=) | |
12 | g.51806331A>G | CA479788028 | SCN8A | c.4845A>G (p.Leu1615=) c.2909A>G c.4722A>G (p.Leu1574=) c.4878A>G (p.Leu1626=) | |
12 | g.51806331A>T | CA479788029 | SCN8A | c.4845A>T (p.Leu1615=) c.2909A>T c.4722A>T (p.Leu1574=) c.4878A>T (p.Leu1626=) | |
12 | g.51806332T>A | CA384880365 | SCN8A | c.4846T>A (p.Phe1616Ile) c.2910T>A c.4723T>A (p.Phe1575Ile) c.4879T>A (p.Phe1627Ile) | |
12 | g.51806332T>C | CA384880367 | SCN8A | c.4846T>C (p.Phe1616Leu) c.2910T>C c.4723T>C (p.Phe1575Leu) c.4879T>C (p.Phe1627Leu) | |
12 | g.51806332T>G | CA384880366 | SCN8A | c.4846T>G (p.Phe1616Val) c.2910T>G c.4723T>G (p.Phe1575Val) c.4879T>G (p.Phe1627Val) | |
12 | g.51806333T>A | CA384880368 | SCN8A | c.4847T>A (p.Phe1616Tyr) c.2911T>A c.4724T>A (p.Phe1575Tyr) c.4880T>A (p.Phe1627Tyr) | |
12 | g.51806333T>C | CA384880369 | SCN8A | c.4847T>C (p.Phe1616Ser) c.2911T>C c.4724T>C (p.Phe1575Ser) c.4880T>C (p.Phe1627Ser) | |
12 | g.51806333T>G | CA384880370 | SCN8A | c.4847T>G (p.Phe1616Cys) c.2911T>G c.4724T>G (p.Phe1575Cys) c.4880T>G (p.Phe1627Cys) | |
12 | g.51806334C>A | CA384880371 | SCN8A | c.4848C>A (p.Phe1616Leu) c.2912C>A c.4725C>A (p.Phe1575Leu) c.4881C>A (p.Phe1627Leu) | |
12 | g.51806334C>G | CA384880372 | SCN8A | c.4848C>G (p.Phe1616Leu) c.2912C>G c.4725C>G (p.Phe1575Leu) c.4881C>G (p.Phe1627Leu) | |
12 | g.51806334C>T | CA479788030 | SCN8A | c.4848C>T (p.Phe1616=) c.2912C>T c.4725C>T (p.Phe1575=) c.4881C>T (p.Phe1627=) | |
12 | g.51806334_51806338del | CA2739291672 | SCN8A | c.4848_4852del (p.Arg1617HisfsTer?) c.2912_2916del c.4725_4729del (p.Arg1576HisfsTer?) c.4881_4885del (p.Arg1628HisfsTer?) | |
12 | g.51806335C>A | CA479788032 | SCN8A | c.4849C>A (p.Arg1617=) c.2913C>A c.4726C>A (p.Arg1576=) c.4882C>A (p.Arg1628=) | |
12 | g.51806335C= | CA2036192768 | SCN8A | c.4849C= (p.Arg1617=) c.2913C= c.4726C= (p.Arg1576=) c.4882C= (p.Arg1628=) | |
12 | g.51806335C>G | CA384880373 | SCN8A | c.4849C>G (p.Arg1617Gly) c.2913C>G c.4726C>G (p.Arg1576Gly) c.4882C>G (p.Arg1628Gly) | |
12 | g.51806335C>T | CA6571874 | SCN8A | c.4849C>T (p.Arg1617Ter) c.2913C>T c.4726C>T (p.Arg1576Ter) c.4882C>T (p.Arg1628Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806336G>A | CA170757 | SCN8A | c.4850G>A (p.Arg1617Gln) c.2914G>A c.4727G>A (p.Arg1576Gln) c.4883G>A (p.Arg1628Gln) | ClinVar dbSNP |
12 | g.51806336G>C | CA384880374 | SCN8A | c.4850G>C (p.Arg1617Pro) c.2914G>C c.4727G>C (p.Arg1576Pro) c.4883G>C (p.Arg1628Pro) | |
12 | g.51806336G= | CA2036192779 | SCN8A | c.4850G= (p.Arg1617=) c.2914G= c.4727G= (p.Arg1576=) c.4883G= (p.Arg1628=) | |
12 | g.51806336G>T | CA384880375 | SCN8A | c.4850G>T (p.Arg1617Leu) c.2914G>T c.4727G>T (p.Arg1576Leu) c.4883G>T (p.Arg1628Leu) | ClinVar dbSNP |
12 | g.51806337A>C | CA479788035 | SCN8A | c.4851A>C (p.Arg1617=) c.2915A>C c.4728A>C (p.Arg1576=) c.4884A>C (p.Arg1628=) | |
12 | g.51806337A>G | CA479788033 | SCN8A | c.4851A>G (p.Arg1617=) c.2915A>G c.4728A>G (p.Arg1576=) c.4884A>G (p.Arg1628=) | gnomAD v4 |
12 | g.51806337A>T | CA479788034 | SCN8A | c.4851A>T (p.Arg1617=) c.2915A>T c.4728A>T (p.Arg1576=) c.4884A>T (p.Arg1628=) | |
12 | g.51806338G>A | CA384880376 | SCN8A | c.4852G>A (p.Val1618Ile) c.2916G>A c.4729G>A (p.Val1577Ile) c.4885G>A (p.Val1629Ile) | COSMIC COSMIC |
12 | g.51806338G>C | CA384880378 | SCN8A | c.4852G>C (p.Val1618Leu) c.2916G>C c.4729G>C (p.Val1577Leu) c.4885G>C (p.Val1629Leu) | |
12 | g.51806338G>T | CA384880377 | SCN8A | c.4852G>T (p.Val1618Phe) c.2916G>T c.4729G>T (p.Val1577Phe) c.4885G>T (p.Val1629Phe) | |
12 | g.51806339T>A | CA384880379 | SCN8A | c.4853T>A (p.Val1618Asp) c.2917T>A c.4730T>A (p.Val1577Asp) c.4886T>A (p.Val1629Asp) | |
12 | g.51806339T>C | CA384880381 | SCN8A | c.4853T>C (p.Val1618Ala) c.2917T>C c.4730T>C (p.Val1577Ala) c.4886T>C (p.Val1629Ala) | |
12 | g.51806339T>G | CA384880380 | SCN8A | c.4853T>G (p.Val1618Gly) c.2917T>G c.4730T>G (p.Val1577Gly) c.4886T>G (p.Val1629Gly) |