17 | g.63941216C>A | CA400614232 | SCN4A | c.5066G>T (p.Gly1689Val)
| |
17 | g.63941216C= | CA2270160832 | SCN4A | c.5066G= (p.Gly1689=)
| |
17 | g.63941216C>G | CA8708843 | SCN4A | c.5066G>C (p.Gly1689Ala)
| dbSNP ExAC gnomAD v2 |
17 | g.63941216C>T | CA400614231 | SCN4A | c.5066G>A (p.Gly1689Asp)
| gnomAD v4 |
17 | g.63941217C>A | CA400614233 | SCN4A | c.5065G>T (p.Gly1689Cys)
| |
17 | g.63941217C>G | CA400614234 | SCN4A | c.5065G>C (p.Gly1689Arg)
| |
17 | g.63941217C>T | CA400614235 | SCN4A | c.5065G>A (p.Gly1689Ser)
| |
17 | g.63941218C>A | CA501347992 | SCN4A | c.5064G>T (p.Leu1688=)
| |
17 | g.63941218C>G | CA501347997 | SCN4A | c.5064G>C (p.Leu1688=)
| gnomAD v4 |
17 | g.63941218C>T | CA501347993 | SCN4A | c.5064G>A (p.Leu1688=)
| |
17 | g.63941219A>C | CA400614236 | SCN4A | c.5063T>G (p.Leu1688Arg)
| |
17 | g.63941219A>G | CA400614237 | SCN4A | c.5063T>C (p.Leu1688Pro)
| |
17 | g.63941219A>T | CA400614238 | SCN4A | c.5063T>A (p.Leu1688Gln)
| |
17 | g.63941220G>A | CA501348002 | SCN4A | c.5062C>T (p.Leu1688=)
| gnomAD v4 |
17 | g.63941220G>C | CA400614239 | SCN4A | c.5062C>G (p.Leu1688Val)
| |
17 | g.63941220G>T | CA400614240 | SCN4A | c.5062C>A (p.Leu1688Met)
| |
17 | g.63941221G>A | CA501348003 | SCN4A | c.5061C>T (p.Val1687=)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941221G>C | CA501348005 | SCN4A | c.5061C>G (p.Val1687=)
| |
17 | g.63941221G= | CA2270160833 | SCN4A | c.5061C= (p.Val1687=)
| |
17 | g.63941221G>T | CA501348007 | SCN4A | c.5061C>A (p.Val1687=)
| gnomAD v4 |
17 | g.63941222A>C | CA400614241 | SCN4A | c.5060T>G (p.Val1687Gly)
| |
17 | g.63941222A>G | CA400614242 | SCN4A | c.5060T>C (p.Val1687Ala)
| |
17 | g.63941222A>T | CA400614243 | SCN4A | c.5060T>A (p.Val1687Asp)
| |
17 | g.63941223C>A | CA400614244 | SCN4A | c.5059G>T (p.Val1687Phe)
| gnomAD v4 |
17 | g.63941223C>G | CA400614245 | SCN4A | c.5059G>C (p.Val1687Leu)
| |
17 | g.63941223C>T | CA400614246 | SCN4A | c.5059G>A (p.Val1687Ile)
| |
17 | g.63941223_63941224del | CA2639322907 | SCN4A | c.5058_5059del (p.Glu1686AspfsTer4)
| gnomAD v4 |
17 | g.63941224C>A | CA400614247 | SCN4A | c.5058G>T (p.Glu1686Asp)
| COSMIC |
17 | g.63941224C= | CA2270160834 | SCN4A | c.5058G= (p.Glu1686=)
| |
17 | g.63941224C>G | CA292956598 | SCN4A | c.5058G>C (p.Glu1686Asp)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941224C>T | CA501348012 | SCN4A | c.5058G>A (p.Glu1686=)
| gnomAD v4 |
17 | g.63941225T>A | CA400614248 | SCN4A | c.5057A>T (p.Glu1686Val)
| |
17 | g.63941225T>C | CA400614249 | SCN4A | c.5057A>G (p.Glu1686Gly)
| |
17 | g.63941225T>G | CA400614250 | SCN4A | c.5057A>C (p.Glu1686Ala)
| |
17 | g.63941226C>A | CA292956602 | SCN4A | c.5056G>T (p.Glu1686Ter)
| dbSNP |
17 | g.63941226C= | CA2270160835 | SCN4A | c.5056G= (p.Glu1686=)
| |
17 | g.63941226C>G | CA400614251 | SCN4A | c.5056G>C (p.Glu1686Gln)
| COSMIC |
17 | g.63941226C>T | CA8708844 | SCN4A | c.5056G>A (p.Glu1686Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941227T>A | CA400614252 | SCN4A | c.5055A>T (p.Lys1685Asn)
| |
17 | g.63941227T>C | CA501348020 | SCN4A | c.5055A>G (p.Lys1685=)
| gnomAD v4 |
17 | g.63941227T>G | CA400614253 | SCN4A | c.5055A>C (p.Lys1685Asn)
| |
17 | g.63941228T>A | CA400614254 | SCN4A | c.5054A>T (p.Lys1685Ile)
| |
17 | g.63941228T>C | CA400614255 | SCN4A | c.5054A>G (p.Lys1685Arg)
| |
17 | g.63941228T>G | CA400614256 | SCN4A | c.5054A>C (p.Lys1685Thr)
| |
17 | g.63941229T>A | CA400614259 | SCN4A | c.5053A>T (p.Lys1685Ter)
| dbSNP |
17 | g.63941229T>C | CA400614258 | SCN4A | c.5053A>G (p.Lys1685Glu)
| |
17 | g.63941229T>G | CA400614257 | SCN4A | c.5053A>C (p.Lys1685Gln)
| |
17 | g.63941229T= | CA2270160836 | SCN4A | c.5053A= (p.Lys1685=)
| |
17 | g.63941230G>A | CA501348027 | SCN4A | c.5052C>T (p.Thr1684=)
| |
17 | g.63941230G>C | CA501348029 | SCN4A | c.5052C>G (p.Thr1684=)
| |
17 | g.63941230G>T | CA501348031 | SCN4A | c.5052C>A (p.Thr1684=)
| |
17 | g.63941231G>A | CA8708846 | SCN4A | c.5051C>T (p.Thr1684Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941231G>C | CA8708847 | SCN4A | c.5051C>G (p.Thr1684Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941231G= | CA2270160837 | SCN4A | c.5051C= (p.Thr1684=)
| |
17 | g.63941231G>T | CA8708845 | SCN4A | c.5051C>A (p.Thr1684Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941232T>A | CA400614260 | SCN4A | c.5050A>T (p.Thr1684Ser)
| |
17 | g.63941232T>C | CA400614261 | SCN4A | c.5050A>G (p.Thr1684Ala)
| gnomAD v4 |
17 | g.63941232T>G | CA400614262 | SCN4A | c.5050A>C (p.Thr1684Pro)
| gnomAD v4 |
17 | g.63941233C>A | CA501348040 | SCN4A | c.5049G>T (p.Leu1683=)
| |
17 | g.63941233C= | CA2270160838 | SCN4A | c.5049G= (p.Leu1683=)
| |
17 | g.63941233C>G | CA8708848 | SCN4A | c.5049G>C (p.Leu1683=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941233C>T | CA501348043 | SCN4A | c.5049G>A (p.Leu1683=)
| COSMIC |
17 | g.63941234A>C | CA400614263 | SCN4A | c.5048T>G (p.Leu1683Arg)
| gnomAD v4 |
17 | g.63941234A>G | CA400614264 | SCN4A | c.5048T>C (p.Leu1683Pro)
| |
17 | g.63941234A>T | CA400614265 | SCN4A | c.5048T>A (p.Leu1683Gln)
| ClinVar |
17 | g.63941235G>A | CA501348047 | SCN4A | c.5047C>T (p.Leu1683=)
| dbSNP gnomAD v4 |
17 | g.63941235G>C | CA400614266 | SCN4A | c.5047C>G (p.Leu1683Val)
| |
17 | g.63941235G= | CA2270160839 | SCN4A | c.5047C= (p.Leu1683=)
| |
17 | g.63941235G>T | CA400614267 | SCN4A | c.5047C>A (p.Leu1683Met)
| |
17 | g.63941236G>A | CA501348048 | SCN4A | c.5046C>T (p.Ala1682=)
| |
17 | g.63941236G>C | CA501348050 | SCN4A | c.5046C>G (p.Ala1682=)
| |
17 | g.63941236G>T | CA501348053 | SCN4A | c.5046C>A (p.Ala1682=)
| |
17 | g.63941237G>A | CA400614268 | SCN4A | c.5045C>T (p.Ala1682Val)
| |
17 | g.63941237G>C | CA400614269 | SCN4A | c.5045C>G (p.Ala1682Gly)
| |
17 | g.63941237G= | CA2270160840 | SCN4A | c.5045C= (p.Ala1682=)
| |
17 | g.63941237G>T | CA400614270 | SCN4A | c.5045C>A (p.Ala1682Asp)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941238C>A | CA400614273 | SCN4A | c.5044G>T (p.Ala1682Ser)
| |
17 | g.63941238C>G | CA400614271 | SCN4A | c.5044G>C (p.Ala1682Pro)
| |
17 | g.63941238C>T | CA400614272 | SCN4A | c.5044G>A (p.Ala1682Thr)
| gnomAD v4 |
17 | g.63941239A>C | CA400614274 | SCN4A | c.5043T>G (p.Phe1681Leu)
| |
17 | g.63941239A>G | CA501348058 | SCN4A | c.5043T>C (p.Phe1681=)
| |
17 | g.63941239A>T | CA400614275 | SCN4A | c.5043T>A (p.Phe1681Leu)
| |
17 | g.63941240A>C | CA400614276 | SCN4A | c.5042T>G (p.Phe1681Cys)
| gnomAD v4 |
17 | g.63941240A>G | CA400614277 | SCN4A | c.5042T>C (p.Phe1681Ser)
| |
17 | g.63941240A>T | CA400614278 | SCN4A | c.5042T>A (p.Phe1681Tyr)
| |
17 | g.63941241A>C | CA400614279 | SCN4A | c.5041T>G (p.Phe1681Val)
| |
17 | g.63941241A>G | CA400614280 | SCN4A | c.5041T>C (p.Phe1681Leu)
| |
17 | g.63941241A>T | CA400614281 | SCN4A | c.5041T>A (p.Phe1681Ile)
| |
17 | g.63941242G>A | CA501348064 | SCN4A | c.5040C>T (p.Leu1680=)
| |
17 | g.63941242G>C | CA501348063 | SCN4A | c.5040C>G (p.Leu1680=)
| |
17 | g.63941242G>T | CA501348062 | SCN4A | c.5040C>A (p.Leu1680=)
| COSMIC |
17 | g.63941243A>C | CA400614282 | SCN4A | c.5039T>G (p.Leu1680Arg)
| |
17 | g.63941243A>G | CA400614283 | SCN4A | c.5039T>C (p.Leu1680Pro)
| |
17 | g.63941243A>T | CA400614284 | SCN4A | c.5039T>A (p.Leu1680His)
| |
17 | g.63941244G>A | CA400614287 | SCN4A | c.5038C>T (p.Leu1680Phe)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941244G>C | CA400614286 | SCN4A | c.5038C>G (p.Leu1680Val)
| |
17 | g.63941244G= | CA2270160841 | SCN4A | c.5038C= (p.Leu1680=)
| |
17 | g.63941244G>T | CA400614285 | SCN4A | c.5038C>A (p.Leu1680Ile)
| |
17 | g.63941245G>A | CA8708849 | SCN4A | c.5037C>T (p.Ile1679=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941245G>C | CA400614288 | SCN4A | c.5037C>G (p.Ile1679Met)
| |
17 | g.63941245G= | CA2270160842 | SCN4A | c.5037C= (p.Ile1679=)
| |
17 | g.63941245G>T | CA8708850 | SCN4A | c.5037C>A (p.Ile1679=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941246A>C | CA400614289 | SCN4A | c.5036T>G (p.Ile1679Ser)
| |
17 | g.63941246A>G | CA400614290 | SCN4A | c.5036T>C (p.Ile1679Thr)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941246A>T | CA400614291 | SCN4A | c.5036T>A (p.Ile1679Asn)
| |
17 | g.63941247T>A | CA400614293 | SCN4A | c.5035A>T (p.Ile1679Phe)
| gnomAD v4 |
17 | g.63941247T>C | CA400614292 | SCN4A | c.5035A>G (p.Ile1679Val)
| ClinVar gnomAD v4 |
17 | g.63941247T>G | CA8708851 | SCN4A | c.5035A>C (p.Ile1679Leu)
| dbSNP ExAC gnomAD v2 |
17 | g.63941247T= | CA2270160843 | SCN4A | c.5035A= (p.Ile1679=)
| |
17 | g.63941248G>A | CA501348077 | SCN4A | c.5034C>T (p.Asp1678=)
| COSMIC |
17 | g.63941248G>C | CA400614294 | SCN4A | c.5034C>G (p.Asp1678Glu)
| |
17 | g.63941248G>T | CA400614295 | SCN4A | c.5034C>A (p.Asp1678Glu)
| |
17 | g.63941249T>A | CA400614296 | SCN4A | c.5033A>T (p.Asp1678Val)
| |
17 | g.63941249T>C | CA400614297 | SCN4A | c.5033A>G (p.Asp1678Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941249T>G | CA400614298 | SCN4A | c.5033A>C (p.Asp1678Ala)
| |
17 | g.63941249T= | CA2270160844 | SCN4A | c.5033A= (p.Asp1678=)
| |
17 | g.63941250C>A | CA400614299 | SCN4A | c.5032G>T (p.Asp1678Tyr)
| gnomAD v4 |
17 | g.63941250C>G | CA400614301 | SCN4A | c.5032G>C (p.Asp1678His)
| |
17 | g.63941250C>T | CA400614300 | SCN4A | c.5032G>A (p.Asp1678Asn)
| |
17 | g.63941251del | CA2639323054 | SCN4A | c.5032del (p.Asp1678ThrfsTer6)
| gnomAD v4 |
17 | g.63941251C>A | CA501348083 | SCN4A | c.5031G>T (p.Leu1677=)
| |
17 | g.63941251C= | CA2270160845 | SCN4A | c.5031G= (p.Leu1677=)
| |
17 | g.63941251C>G | CA501348084 | SCN4A | c.5031G>C (p.Leu1677=)
| |
17 | g.63941251C>T | CA501348085 | SCN4A | c.5031G>A (p.Leu1677=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941252A>C | CA400614302 | SCN4A | c.5030T>G (p.Leu1677Arg)
| |
17 | g.63941252A>G | CA400614303 | SCN4A | c.5030T>C (p.Leu1677Pro)
| |
17 | g.63941252A>T | CA400614304 | SCN4A | c.5030T>A (p.Leu1677Gln)
| |
17 | g.63941253G>A | CA8708852 | SCN4A | c.5029C>T (p.Leu1677=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941253G>C | CA400614305 | SCN4A | c.5029C>G (p.Leu1677Val)
| |
17 | g.63941253G= | CA2270160846 | SCN4A | c.5029C= (p.Leu1677=)
| |
17 | g.63941253G>T | CA400614306 | SCN4A | c.5029C>A (p.Leu1677Met)
| |
17 | g.63941254G>A | CA501348093 | SCN4A | c.5028C>T (p.Cys1676=)
| |
17 | g.63941254G>C | CA400614307 | SCN4A | c.5028C>G (p.Cys1676Trp)
| |
17 | g.63941254G= | CA2270160847 | SCN4A | c.5028C= (p.Cys1676=)
| |
17 | g.63941254G>T | CA400614308 | SCN4A | c.5028C>A (p.Cys1676Ter)
| dbSNP |
17 | g.63941255C>A | CA400614309 | SCN4A | c.5027G>T (p.Cys1676Phe)
| COSMIC |
17 | g.63941255C>G | CA400614310 | SCN4A | c.5027G>C (p.Cys1676Ser)
| ClinVar |
17 | g.63941255C>T | CA400614311 | SCN4A | c.5027G>A (p.Cys1676Tyr)
| |
17 | g.63941256A>C | CA400614313 | SCN4A | c.5026T>G (p.Cys1676Gly)
| |
17 | g.63941256A>G | CA400614314 | SCN4A | c.5026T>C (p.Cys1676Arg)
| |
17 | g.63941256A>T | CA400614312 | SCN4A | c.5026T>A (p.Cys1676Ser)
| |
17 | g.63941257G>A | CA501348099 | SCN4A | c.5025C>T (p.His1675=)
| |
17 | g.63941257G>C | CA400614315 | SCN4A | c.5025C>G (p.His1675Gln)
| |
17 | g.63941257G= | CA2270160848 | SCN4A | c.5025C= (p.His1675=)
| |
17 | g.63941257G>T | CA8708853 | SCN4A | c.5025C>A (p.His1675Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941258T>A | CA400614316 | SCN4A | c.5024A>T (p.His1675Leu)
| |
17 | g.63941258T>C | CA400614317 | SCN4A | c.5024A>G (p.His1675Arg)
| ClinVar |
17 | g.63941258T>G | CA400614318 | SCN4A | c.5024A>C (p.His1675Pro)
| |
17 | g.63941259G>A | CA8708854 | SCN4A | c.5023C>T (p.His1675Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941259G>C | CA400614319 | SCN4A | c.5023C>G (p.His1675Asp)
| |
17 | g.63941259G= | CA2270160849 | SCN4A | c.5023C= (p.His1675=)
| |
17 | g.63941259G>T | CA400614320 | SCN4A | c.5023C>A (p.His1675Asn)
| |
17 | g.63941260G>A | CA501348111 | SCN4A | c.5022C>T (p.Ile1674=)
| |
17 | g.63941260G>C | CA400614321 | SCN4A | c.5022C>G (p.Ile1674Met)
| |
17 | g.63941260G>T | CA501348112 | SCN4A | c.5022C>A (p.Ile1674=)
| |
17 | g.63941261A>C | CA400614322 | SCN4A | c.5021T>G (p.Ile1674Ser)
| |
17 | g.63941261A>G | CA400614323 | SCN4A | c.5021T>C (p.Ile1674Thr)
| |
17 | g.63941261A>T | CA400614324 | SCN4A | c.5021T>A (p.Ile1674Asn)
| |
17 | g.63941262T>A | CA400614325 | SCN4A | c.5020A>T (p.Ile1674Phe)
| |
17 | g.63941262T>C | CA8708855 | SCN4A | c.5020A>G (p.Ile1674Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941262T>G | CA400614326 | SCN4A | c.5020A>C (p.Ile1674Leu)
| |
17 | g.63941262T= | CA2270160850 | SCN4A | c.5020A= (p.Ile1674=)
| |
17 | g.63941263C>A | CA400614328 | SCN4A | c.5019G>T (p.Lys1673Asn)
| |
17 | g.63941263C= | CA2270160851 | SCN4A | c.5019G= (p.Lys1673=)
| |
17 | g.63941263C>G | CA400614327 | SCN4A | c.5019G>C (p.Lys1673Asn)
| |
17 | g.63941263C>T | CA8708856 | SCN4A | c.5019G>A (p.Lys1673=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941264T>A | CA400614329 | SCN4A | c.5018A>T (p.Lys1673Met)
| |
17 | g.63941264T>C | CA400614330 | SCN4A | c.5018A>G (p.Lys1673Arg)
| |
17 | g.63941264T>G | CA400614331 | SCN4A | c.5018A>C (p.Lys1673Thr)
| |
17 | g.63941265T>A | CA400614332 | SCN4A | c.5017A>T (p.Lys1673Ter)
| dbSNP |
17 | g.63941265T>C | CA400614333 | SCN4A | c.5017A>G (p.Lys1673Glu)
| |
17 | g.63941265T>G | CA400614334 | SCN4A | c.5017A>C (p.Lys1673Gln)
| |
17 | g.63941265T= | CA2270160852 | SCN4A | c.5017A= (p.Lys1673=)
| |
17 | g.63941266G>A | CA501348118 | SCN4A | c.5016C>T (p.Asp1672=)
| dbSNP |
17 | g.63941266G>C | CA8708857 | SCN4A | c.5016C>G (p.Asp1672Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941266G= | CA2270160853 | SCN4A | c.5016C= (p.Asp1672=)
| |
17 | g.63941266G>T | CA400614335 | SCN4A | c.5016C>A (p.Asp1672Glu)
| gnomAD v4 |
17 | g.63941267T>A | CA400614336 | SCN4A | c.5015A>T (p.Asp1672Val)
| |
17 | g.63941267T>C | CA400614337 | SCN4A | c.5015A>G (p.Asp1672Gly)
| gnomAD v4 |
17 | g.63941267T>G | CA400614338 | SCN4A | c.5015A>C (p.Asp1672Ala)
| |
17 | g.63941268C>A | CA400614339 | SCN4A | c.5014G>T (p.Asp1672Tyr)
| dbSNP |
17 | g.63941268C= | CA2270160854 | SCN4A | c.5014G= (p.Asp1672=)
| |
17 | g.63941268C>G | CA400614340 | SCN4A | c.5014G>C (p.Asp1672His)
| gnomAD v4 |
17 | g.63941268C>T | CA400614341 | SCN4A | c.5014G>A (p.Asp1672Asn)
| gnomAD v4 COSMIC |
17 | g.63941269C>A | CA501348121 | SCN4A | c.5013G>T (p.Gly1671=)
| |
17 | g.63941269C>G | CA501348123 | SCN4A | c.5013G>C (p.Gly1671=)
| |
17 | g.63941269C>T | CA501348124 | SCN4A | c.5013G>A (p.Gly1671=)
| |
17 | g.63941270C>A | CA400614344 | SCN4A | c.5012G>T (p.Gly1671Val)
| |
17 | g.63941270C= | CA2270160855 | SCN4A | c.5012G= (p.Gly1671=)
| |
17 | g.63941270C>G | CA400614343 | SCN4A | c.5012G>C (p.Gly1671Ala)
| |
17 | g.63941270C>T | CA400614342 | SCN4A | c.5012G>A (p.Gly1671Glu)
| dbSNP gnomAD v4 |
17 | g.63941271C>A | CA400614345 | SCN4A | c.5011G>T (p.Gly1671Trp)
| |
17 | g.63941271C= | CA2270160856 | SCN4A | c.5011G= (p.Gly1671=)
| |
17 | g.63941271C>G | CA400614346 | SCN4A | c.5011G>C (p.Gly1671Arg)
| |
17 | g.63941271C>T | CA292956639 | SCN4A | c.5011G>A (p.Gly1671Arg)
| dbSNP COSMIC |
17 | g.63941272T>A | CA501348128 | SCN4A | c.5010A>T (p.Pro1670=)
| |
17 | g.63941272T>C | CA8708858 | SCN4A | c.5010A>G (p.Pro1670=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941272T>G | CA292956650 | SCN4A | c.5010A>C (p.Pro1670=)
| dbSNP |
17 | g.63941272T= | CA2270160857 | SCN4A | c.5010A= (p.Pro1670=)
| |
17 | g.63941273G>A | CA400614347 | SCN4A | c.5009C>T (p.Pro1670Leu)
| gnomAD v4 |
17 | g.63941273G>C | CA400614348 | SCN4A | c.5009C>G (p.Pro1670Arg)
| |
17 | g.63941273G>T | CA400614349 | SCN4A | c.5009C>A (p.Pro1670Gln)
| |
17 | g.63941274G>A | CA400614350 | SCN4A | c.5008C>T (p.Pro1670Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941274G>C | CA400614351 | SCN4A | c.5008C>G (p.Pro1670Ala)
| |
17 | g.63941274G= | CA2270160858 | SCN4A | c.5008C= (p.Pro1670=)
| |
17 | g.63941274G>T | CA400614352 | SCN4A | c.5008C>A (p.Pro1670Thr)
| |
17 | g.63941275C>A | CA501348134 | SCN4A | c.5007G>T (p.Val1669=)
| |
17 | g.63941275C>G | CA501348136 | SCN4A | c.5007G>C (p.Val1669=)
| |
17 | g.63941275C>T | CA501348137 | SCN4A | c.5007G>A (p.Val1669=)
| |
17 | g.63941276A>C | CA400614353 | SCN4A | c.5006T>G (p.Val1669Gly)
| gnomAD v4 |
17 | g.63941276A>G | CA400614354 | SCN4A | c.5006T>C (p.Val1669Ala)
| |
17 | g.63941276A>T | CA400614355 | SCN4A | c.5006T>A (p.Val1669Glu)
| |
17 | g.63941277C>A | CA400614358 | SCN4A | c.5005G>T (p.Val1669Leu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941277C= | CA2270160859 | SCN4A | c.5005G= (p.Val1669=)
| |
17 | g.63941277C>G | CA400614356 | SCN4A | c.5005G>C (p.Val1669Leu)
| |
17 | g.63941277C>T | CA400614357 | SCN4A | c.5005G>A (p.Val1669Met)
| gnomAD v4 |
17 | g.63941278C>A | CA400614359 | SCN4A | c.5004G>T (p.Met1668Ile)
| |
17 | g.63941278C>G | CA400614360 | SCN4A | c.5004G>C (p.Met1668Ile)
| |
17 | g.63941278C>T | CA400614361 | SCN4A | c.5004G>A (p.Met1668Ile)
| |
17 | g.63941279A= | CA2270160860 | SCN4A | c.5003T= (p.Met1668=)
| |
17 | g.63941279A>C | CA400614362 | SCN4A | c.5003T>G (p.Met1668Arg)
| |
17 | g.63941279A>G | CA8708859 | SCN4A | c.5003T>C (p.Met1668Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941279A>T | CA400614363 | SCN4A | c.5003T>A (p.Met1668Lys)
| |
17 | g.63941280T>A | CA400614364 | SCN4A | c.5002A>T (p.Met1668Leu)
| gnomAD v4 |
17 | g.63941280T>C | CA292956662 | SCN4A | c.5002A>G (p.Met1668Val)
| dbSNP |
17 | g.63941280T>G | CA400614365 | SCN4A | c.5002A>C (p.Met1668Leu)
| |
17 | g.63941280T= | CA2270160861 | SCN4A | c.5002A= (p.Met1668=)
| |
17 | g.63941281G>A | CA501348147 | SCN4A | c.5001C>T (p.Pro1667=)
| |
17 | g.63941281G>C | CA501348148 | SCN4A | c.5001C>G (p.Pro1667=)
| |
17 | g.63941281G>T | CA501348149 | SCN4A | c.5001C>A (p.Pro1667=)
| |
17 | g.63941282G>A | CA8708860 | SCN4A | c.5000C>T (p.Pro1667Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941282G>C | CA400614366 | SCN4A | c.5000C>G (p.Pro1667Arg)
| |
17 | g.63941282G= | CA2270160862 | SCN4A | c.5000C= (p.Pro1667=)
| |
17 | g.63941282G>T | CA400614367 | SCN4A | c.5000C>A (p.Pro1667His)
| |
17 | g.63941283G>A | CA400614368 | SCN4A | c.4999C>T (p.Pro1667Ser)
| |
17 | g.63941283G>C | CA400614370 | SCN4A | c.4999C>G (p.Pro1667Ala)
| |
17 | g.63941283G>T | CA400614369 | SCN4A | c.4999C>A (p.Pro1667Thr)
| |
17 | g.63941284C>A | CA400614371 | SCN4A | c.4998G>T (p.Leu1666Phe)
| dbSNP |
17 | g.63941284C>G | CA400614372 | SCN4A | c.4998G>C (p.Leu1666Phe)
| |
17 | g.63941284C>T | CA501348153 | SCN4A | c.4998G>A (p.Leu1666=)
| |
17 | g.63941285A= | CA2270160863 | SCN4A | c.4997T= (p.Leu1666=)
| |
17 | g.63941285A>C | CA400614373 | SCN4A | c.4997T>G (p.Leu1666Trp)
| |
17 | g.63941285A>G | CA400614374 | SCN4A | c.4997T>C (p.Leu1666Ser)
| |
17 | g.63941285A>T | CA400614375 | SCN4A | c.4997T>A (p.Leu1666Ter)
| dbSNP |
17 | g.63941286A>C | CA400614376 | SCN4A | c.4996T>G (p.Leu1666Val)
| |
17 | g.63941286A>G | CA501348156 | SCN4A | c.4996T>C (p.Leu1666=)
| |
17 | g.63941286A>T | CA400614377 | SCN4A | c.4996T>A (p.Leu1666Met)
| |
17 | g.63941287G>A | CA8708861 | SCN4A | c.4995C>T (p.Asp1665=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941287G>C | CA400614378 | SCN4A | c.4995C>G (p.Asp1665Glu)
| |
17 | g.63941287G= | CA2270160864 | SCN4A | c.4995C= (p.Asp1665=)
| |
17 | g.63941287G>T | CA400614379 | SCN4A | c.4995C>A (p.Asp1665Glu)
| |
17 | g.63941288T>A | CA400614380 | SCN4A | c.4994A>T (p.Asp1665Val)
| |
17 | g.63941288T>C | CA400614381 | SCN4A | c.4994A>G (p.Asp1665Gly)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941288T>G | CA8708862 | SCN4A | c.4994A>C (p.Asp1665Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941288T= | CA2270160865 | SCN4A | c.4994A= (p.Asp1665=)
| |
17 | g.63941289C>A | CA400614384 | SCN4A | c.4993G>T (p.Asp1665Tyr)
| |
17 | g.63941289C= | CA2270160866 | SCN4A | c.4993G= (p.Asp1665=)
| |
17 | g.63941289C>G | CA400614383 | SCN4A | c.4993G>C (p.Asp1665His)
| ClinVar dbSNP |
17 | g.63941289C>T | CA400614382 | SCN4A | c.4993G>A (p.Asp1665Asn)
| |
17 | g.63941290C>A | CA501348162 | SCN4A | c.4992G>T (p.Leu1664=)
| |
17 | g.63941290C>G | CA501348164 | SCN4A | c.4992G>C (p.Leu1664=)
| |
17 | g.63941290C>T | CA501348163 | SCN4A | c.4992G>A (p.Leu1664=)
| |
17 | g.63941291A>C | CA400614385 | SCN4A | c.4991T>G (p.Leu1664Arg)
| |
17 | g.63941291A>G | CA400614386 | SCN4A | c.4991T>C (p.Leu1664Pro)
| |
17 | g.63941291A>T | CA400614387 | SCN4A | c.4991T>A (p.Leu1664Gln)
| gnomAD v4 |
17 | g.63941292G>A | CA501348168 | SCN4A | c.4990C>T (p.Leu1664=)
| dbSNP |
17 | g.63941292G>C | CA400614388 | SCN4A | c.4990C>G (p.Leu1664Val)
| gnomAD v4 |
17 | g.63941292G= | CA2270160867 | SCN4A | c.4990C= (p.Leu1664=)
| |
17 | g.63941292G>T | CA400614389 | SCN4A | c.4990C>A (p.Leu1664Met)
| |
17 | g.63941293T>A | CA501348169 | SCN4A | c.4989A>T (p.Thr1663=)
| |
17 | g.63941293T>C | CA501348170 | SCN4A | c.4989A>G (p.Thr1663=)
| dbSNP gnomAD v2 |
17 | g.63941293T>G | CA501348172 | SCN4A | c.4989A>C (p.Thr1663=)
| |
17 | g.63941293T= | CA2270160868 | SCN4A | c.4989A= (p.Thr1663=)
| |
17 | g.63941294G>A | CA400614390 | SCN4A | c.4988C>T (p.Thr1663Ile)
| dbSNP |
17 | g.63941294G>C | CA400614391 | SCN4A | c.4988C>G (p.Thr1663Arg)
| |
17 | g.63941294G= | CA2270160869 | SCN4A | c.4988C= (p.Thr1663=)
| |
17 | g.63941294G>T | CA400614392 | SCN4A | c.4988C>A (p.Thr1663Lys)
| |
17 | g.63941295T>A | CA400614393 | SCN4A | c.4987A>T (p.Thr1663Ser)
| |
17 | g.63941295T>C | CA400614394 | SCN4A | c.4987A>G (p.Thr1663Ala)
| gnomAD v4 |
17 | g.63941295T>G | CA400614395 | SCN4A | c.4987A>C (p.Thr1663Pro)
| |
17 | g.63941296G>A | CA501348173 | SCN4A | c.4986C>T (p.Ile1662=)
| |
17 | g.63941296G>C | CA400614396 | SCN4A | c.4986C>G (p.Ile1662Met)
| |
17 | g.63941296G>T | CA501348174 | SCN4A | c.4986C>A (p.Ile1662=)
| |
17 | g.63941297A= | CA2270160870 | SCN4A | c.4985T= (p.Ile1662=)
| |
17 | g.63941297A>C | CA400614398 | SCN4A | c.4985T>G (p.Ile1662Ser)
| |
17 | g.63941297A>G | CA400614397 | SCN4A | c.4985T>C (p.Ile1662Thr)
| dbSNP |
17 | g.63941297A>T | CA8708863 | SCN4A | c.4985T>A (p.Ile1662Asn)
| dbSNP ExAC gnomAD v4 |
17 | g.63941298T>A | CA400614399 | SCN4A | c.4984A>T (p.Ile1662Phe)
| |
17 | g.63941298T>C | CA292956694 | SCN4A | c.4984A>G (p.Ile1662Val)
| dbSNP |
17 | g.63941298T>G | CA400614400 | SCN4A | c.4984A>C (p.Ile1662Leu)
| dbSNP gnomAD v4 |
17 | g.63941298T= | CA2270160871 | SCN4A | c.4984A= (p.Ile1662=)
| |
17 | g.63941299G>A | CA501348175 | SCN4A | c.4983C>T (p.Leu1661=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941299G>C | CA501348176 | SCN4A | c.4983C>G (p.Leu1661=)
| |
17 | g.63941299G= | CA2270160872 | SCN4A | c.4983C= (p.Leu1661=)
| |
17 | g.63941299G>T | CA501348177 | SCN4A | c.4983C>A (p.Leu1661=)
| |
17 | g.63941300A>C | CA400614401 | SCN4A | c.4982T>G (p.Leu1661Arg)
| |
17 | g.63941300A>G | CA400614402 | SCN4A | c.4982T>C (p.Leu1661Pro)
| |
17 | g.63941300A>T | CA400614403 | SCN4A | c.4982T>A (p.Leu1661His)
| |
17 | g.63941301G>A | CA400614404 | SCN4A | c.4981C>T (p.Leu1661Phe)
| ClinVar gnomAD v4 |
17 | g.63941301G>C | CA400614405 | SCN4A | c.4981C>G (p.Leu1661Val)
| |
17 | g.63941301G>T | CA400614406 | SCN4A | c.4981C>A (p.Leu1661Ile)
| |
17 | g.63941302C>A | CA400614407 | SCN4A | c.4980G>T (p.Lys1660Asn)
| |
17 | g.63941302C= | CA2270160873 | SCN4A | c.4980G= (p.Lys1660=)
| |
17 | g.63941302C>G | CA400614408 | SCN4A | c.4980G>C (p.Lys1660Asn)
| |
17 | g.63941302C>T | CA8708864 | SCN4A | c.4980G>A (p.Lys1660=)
| dbSNP ExAC |
17 | g.63941303T>A | CA400614411 | SCN4A | c.4979A>T (p.Lys1660Met)
| |
17 | g.63941303T>C | CA400614410 | SCN4A | c.4979A>G (p.Lys1660Arg)
| |
17 | g.63941303T>G | CA400614409 | SCN4A | c.4979A>C (p.Lys1660Thr)
| |
17 | g.63941304T>A | CA400614412 | SCN4A | c.4978A>T (p.Lys1660Ter)
| dbSNP |
17 | g.63941304T>C | CA400614413 | SCN4A | c.4978A>G (p.Lys1660Glu)
| |
17 | g.63941304T>G | CA400614414 | SCN4A | c.4978A>C (p.Lys1660Gln)
| |
17 | g.63941304T= | CA2270160874 | SCN4A | c.4978A= (p.Lys1660=)
| |
17 | g.63941305G>A | CA501348178 | SCN4A | c.4977C>T (p.Ile1659=)
| gnomAD v4 |
17 | g.63941305G>C | CA400614415 | SCN4A | c.4977C>G (p.Ile1659Met)
| |
17 | g.63941305G>T | CA501348179 | SCN4A | c.4977C>A (p.Ile1659=)
| gnomAD v4 |
17 | g.63941306A>C | CA400614416 | SCN4A | c.4976T>G (p.Ile1659Ser)
| |
17 | g.63941306A>G | CA400614417 | SCN4A | c.4976T>C (p.Ile1659Thr)
| |
17 | g.63941306A>T | CA400614418 | SCN4A | c.4976T>A (p.Ile1659Asn)
| |
17 | g.63941307T>A | CA400614419 | SCN4A | c.4975A>T (p.Ile1659Phe)
| |
17 | g.63941307T>C | CA400614420 | SCN4A | c.4975A>G (p.Ile1659Val)
| |
17 | g.63941307T>G | CA400614421 | SCN4A | c.4975A>C (p.Ile1659Leu)
| |
17 | g.63941308C>A | CA400614422 | SCN4A | c.4974G>T (p.Lys1658Asn)
| |
17 | g.63941308C>G | CA400614423 | SCN4A | c.4974G>C (p.Lys1658Asn)
| |
17 | g.63941308C>T | CA501348180 | SCN4A | c.4974G>A (p.Lys1658=)
| |
17 | g.63941309T>A | CA400614425 | SCN4A | c.4973A>T (p.Lys1658Met)
| |
17 | g.63941309T>C | CA8708865 | SCN4A | c.4973A>G (p.Lys1658Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941309T>G | CA400614424 | SCN4A | c.4973A>C (p.Lys1658Thr)
| |
17 | g.63941309T= | CA2270160875 | SCN4A | c.4973A= (p.Lys1658=)
| |
17 | g.63941312_63941314del | CA2733864257 | SCN4A | c.4971_4973del (p.Asn1657del)
| dbSNP |
17 | g.63941310T>A | CA400614426 | SCN4A | c.4972A>T (p.Lys1658Ter)
| dbSNP |
17 | g.63941310T>C | CA400614428 | SCN4A | c.4972A>G (p.Lys1658Glu)
| |
17 | g.63941310T>G | CA400614427 | SCN4A | c.4972A>C (p.Lys1658Gln)
| |
17 | g.63941310T= | CA2270160876 | SCN4A | c.4972A= (p.Lys1658=)
| |
17 | g.63941311G>A | CA501348181 | SCN4A | c.4971C>T (p.Asn1657=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941311G>C | CA400614429 | SCN4A | c.4971C>G (p.Asn1657Lys)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941311G= | CA2270160877 | SCN4A | c.4971C= (p.Asn1657=)
| |
17 | g.63941311G>T | CA400614430 | SCN4A | c.4971C>A (p.Asn1657Lys)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941312T>A | CA400614431 | SCN4A | c.4970A>T (p.Asn1657Ile)
| |
17 | g.63941312T>C | CA8708866 | SCN4A | c.4970A>G (p.Asn1657Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941312T>G | CA400614432 | SCN4A | c.4970A>C (p.Asn1657Thr)
| |
17 | g.63941312T= | CA2270160878 | SCN4A | c.4970A= (p.Asn1657=)
| |
17 | g.63941313T>A | CA400614433 | SCN4A | c.4969A>T (p.Asn1657Tyr)
| |
17 | g.63941313T>C | CA400614434 | SCN4A | c.4969A>G (p.Asn1657Asp)
| |
17 | g.63941313T>G | CA400614435 | SCN4A | c.4969A>C (p.Asn1657His)
| |
17 | g.63941314G>A | CA501348182 | SCN4A | c.4968C>T (p.Pro1656=)
| |
17 | g.63941314G>C | CA501348183 | SCN4A | c.4968C>G (p.Pro1656=)
| gnomAD v4 |
17 | g.63941314G>T | CA501348184 | SCN4A | c.4968C>A (p.Pro1656=)
| |
17 | g.63941315G>A | CA400614436 | SCN4A | c.4967C>T (p.Pro1656Leu)
| |
17 | g.63941315G>C | CA400614437 | SCN4A | c.4967C>G (p.Pro1656Arg)
| |
17 | g.63941315G>T | CA400614438 | SCN4A | c.4967C>A (p.Pro1656His)
| |
17 | g.63941316G>A | CA400614439 | SCN4A | c.4966C>T (p.Pro1656Ser)
| |
17 | g.63941316G>C | CA400614440 | SCN4A | c.4966C>G (p.Pro1656Ala)
| dbSNP gnomAD v4 |
17 | g.63941316G= | CA2270160879 | SCN4A | c.4966C= (p.Pro1656=)
| |
17 | g.63941316G>T | CA400614441 | SCN4A | c.4966C>A (p.Pro1656Thr)
| |