UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63947008_63947009insAACCCCCCCCCA | CA2639314265 | SCN4A | c.3441+42_3441+43insGGGGTTTGGGGG (n.3441+42_3441+43insGGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCA | CA2639314244 | SCN4A | c.3441+42_3441+43insGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCACCCCCCCCCA | CA2639314282 | SCN4A | c.3441+42_3441+43insGGGGTGGGTTTGGGGG (n.3441+42_3441+43insGGGGTGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCA | CA2639314238 | SCN4A | c.3441+42_3441+43insGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGGGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCACCCCCCCCCCA | CA2639314275 | SCN4A | c.3441+42_3441+43insGGGGGTGGGTTTGGGGG (n.3441+42_3441+43insGGGGGTGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCA | CA2639314230 | SCN4A | c.3441+42_3441+43insGGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGGGGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCACCCCCCCCCCA | CA2810127868 | SCN4A | c.3441+42_3441+43insGGGGGTGGGGTTTGGGGG (n.3441+42_3441+43insGGGGGTGGGGTTTGGGGG) | |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCA | CA2639314219 | SCN4A | c.3441+42_3441+43insGGGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGGGGGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCAGCCCCCCCCCCCCA | CA2639314271 | SCN4A | c.3441+42_3441+43insGGGGGGGCTGGGTTTGGGGG (n.3441+42_3441+43insGGGGGGGCTGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCACCCCCCCCCA | CA2810127880 | SCN4A | c.3441+42_3441+43insGGGGTGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGTGGGGGGGGTTTGGGGG) | |
| 17 | g.63947008_63947009insAACCCCCCCCACCCCCCCCCCA | CA2810127881 | SCN4A | c.3441+42_3441+43insGGGGGTGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGGTGGGGGGGGTTTGGGGG) | |
| 17 | g.63947008_63947009insAACCCCCCCCCACCCCCCCCCA | CA2639314224 | SCN4A | c.3441+42_3441+43insGGGGTGGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGTGGGGGGGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCACCCCACCCCCCCCCCA | CA2639314254 | SCN4A | c.3441+42_3441+43insGGGGGTGGGGTGGGGTTTGGGGG (n.3441+42_3441+43insGGGGGTGGGGTGGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCACCCCCCCCCCA | CA2810127884 | SCN4A | c.3441+42_3441+43insGGGGGTGGGGGGGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGGTGGGGGGGGGGGGGGTTTGGGGG) | |
| 17 | g.63947008_63947009insACCCCACCCCCCCCCCCCCCTAAGCACCCCCCCCCCA | CA2810127887 | SCN4A | c.3441+42_3441+43insGGGGGTGCTTAGGGGGGGGGGGGGGTGGGGTTGGGGG (n.3441+42_3441+43insGGGGGTGCTTAGGGGGGGGGGGGGGTGGGGTTGGGGG) | |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCAGGCCCCCTAACCACCCCCCCCCA | CA2639314081 | SCN4A | c.3441+42_3441+43insGGGGTGGTTAGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGTGGTTAGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insACCCCCCCCCCCCCCCCAGCCCCCAACCCCACCCCCCCCCA | CA2639314124 | SCN4A | c.3441+42_3441+43insGGGGTGGGGTTGGGGGCTGGGGGGGGGGGGGGGGTTGGGGG (n.3441+42_3441+43insGGGGTGGGGTTGGGGGCTGGGGGGGGGGGGGGGGTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insACCCCCCCCCCCCCCCCAGGCCCCCTAACCAACCCCCCCCA | CA2810127886 | SCN4A | c.3441+42_3441+43insGGGTTGGTTAGGGGGCCTGGGGGGGGGGGGGGGGTTGGGGG (n.3441+42_3441+43insGGGTTGGTTAGGGGGCCTGGGGGGGGGGGGGGGGTTGGGGG) | |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCACGCCCCCTAAACCCCCACCCCCCA | CA2639313980 | SCN4A | c.3441+42_3441+43insGTGGGGGTTTAGGGGGCGTGGGGGGGGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGTGGGGGTTTAGGGGGCGTGGGGGGGGGGGGGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCACGCCCCCTGAACCCCCCCCCCCCA | CA2639314212 | SCN4A | c.3441+42_3441+43insGGGGGGGTTCAGGGGGCGTGGGGGGGGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGGGGTTCAGGGGGCGTGGGGGGGGGGGGGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCAGGCCCCCTAACCACCCCCCCCCCA | CA2639314175 | SCN4A | c.3441+42_3441+43insGGGGGTGGTTAGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGGTGGTTAGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCAGGCCCCCTGAGGACCCCCCCCCCA | CA2639314163 | SCN4A | c.3441+42_3441+43insGGGGGTCCTCAGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGGTCCTCAGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCAGGCCCCCTCCACACCCCCCCCCCA | CA2810127889 | SCN4A | c.3441+42_3441+43insGGGGGTGTGGAGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGGTGTGGAGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG) | |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCAGGCCCCCAAAGCACCCCCCCCCCA | CA2639314182 | SCN4A | c.3441+42_3441+43insGGGGGTGCTTTGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGGTGCTTTGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCAGGGCCCCAAAACACCCCCCCCCCA | CA2639314159 | SCN4A | c.3441+42_3441+43insGGGGGTGTTTTGGGGCCCTGGGGGGGGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGGTGTTTTGGGGCCCTGGGGGGGGGGGGGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insACCCCCCCCCCCCCCCCAGGCCCCCTCAACCCCCCCCCCCCA | CA2639314119 | SCN4A | c.3441+42_3441+43insGGGGGGGTTGAGGGGGCCTGGGGGGGGGGGGGGGGTTGGGGG (n.3441+42_3441+43insGGGGGGGTTGAGGGGGCCTGGGGGGGGGGGGGGGGTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCAGGCCCCCTGAACACCCCCCCCCCA | CA2639314166 | SCN4A | c.3441+42_3441+43insGGGGGTGTTCAGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGGTGTTCAGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCAGGGCCCCTCACCCCCCCCCCCCCA | CA2639314154 | SCN4A | c.3441+42_3441+43insGGGGGGGGTGAGGGGCCCTGGGGGGGGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGGGGGTGAGGGGCCCTGGGGGGGGGGGGGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCATGCCCCCAAAGCACCCCCCCCCCA | CA2639314140 | SCN4A | c.3441+42_3441+43insGGGGGTGCTTTGGGGGCATGGGGGGGGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGGTGCTTTGGGGGCATGGGGGGGGGGGGGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insACCCCCCCCCCCCCCCCAGGCCCCCTGAGCCCCCCCCCCCCA | CA2639314104 | SCN4A | c.3441+42_3441+43insGGGGGGGCTCAGGGGGCCTGGGGGGGGGGGGGGGGTTGGGGG (n.3441+42_3441+43insGGGGGGGCTCAGGGGGCCTGGGGGGGGGGGGGGGGTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCAGGCCCCCTAAGCACCCCCCCCCCA | CA2810127882 | SCN4A | c.3441+42_3441+43insGGGGGTGCTTAGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGGTGCTTAGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG) | |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCATGGCCCCGGAGCCCCCCCCCCCCA | CA2639314133 | SCN4A | c.3441+42_3441+43insGGGGGGGCTCCGGGGCCATGGGGGGGGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGGGGCTCCGGGGCCATGGGGGGGGGGGGGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCAGGCCCCCAAACCACCCCCCCCCCA | CA2639314203 | SCN4A | c.3441+42_3441+43insGGGGGTGGTTTGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGGTGGTTTGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCAGGCCCCCTCAGCCCCCCCCCCCCA | CA2639314173 | SCN4A | c.3441+42_3441+43insGGGGGGGCTGAGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG (n.3441+42_3441+43insGGGGGGGCTGAGGGGGCCTGGGGGGGGGGGGGGGTTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insACCCCCCCCCCCCCCCCAGGCCCCCTCAGCACCCCCCCCCCA | CA2639314108 | SCN4A | c.3441+42_3441+43insGGGGGTGCTGAGGGGGCCTGGGGGGGGGGGGGGGGTTGGGGG (n.3441+42_3441+43insGGGGGTGCTGAGGGGGCCTGGGGGGGGGGGGGGGGTTGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insACCCCCCCCCCCCCCCCACGCCCCCTCCCCCCCCCCCCCCCCAGGCCCCCTCACCACCCCCCCCCA | CA2810127888 | SCN4A | c.3441+42_3441+43insGGGGTGGTGAGGGGGCCTGGGGGGGGGGGGGGGGAGGGGGCGTGGGGGGGGGGGGGGGGTTGGGGG (n.3441+42_3441+43insGGGGTGGTGAGGGGGCCTGGGGGGGGGGGGGGGGAGGGGGCGTGGGGGGGGGGGGGGGGTTGGGGG) | |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCAGGCCCCA | CA2639314575 | SCN4A | c.3441+41_3441+42insCCTGGGGGGGGGGGGGGGTTTGGGG (n.3441+41_3441+42insCCTGGGGGGGGGGGGGGGTTTGGGG) | gnomAD v4 |
| 17 | g.63947008_63947012del | CA985430209 | SCN4A | c.3441+36_3441+40del (n.3441+36_3441+40del) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63947009_63947019del | CA2639314628 | SCN4A | c.3441+30_3441+40del (n.3441+30_3441+40del) | gnomAD v4 |
| 17 | g.63947008_63947011del | CA2639314635 | SCN4A | c.3441+36_3441+39del (n.3441+36_3441+39del) | gnomAD v4 |
| 17 | g.63947008_63947017del | CA2639314639 | SCN4A | c.3441+30_3441+39del (n.3441+30_3441+39del) | gnomAD v4 |
| 17 | g.63947008A>C | CA985430213 | SCN4A | c.3441+37T>G (n.3441+37T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63947008_63947009insAA | CA2270163731 | SCN4A | c.3441+37_3441+38insTT (n.3441+37_3441+38insTT) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63947008dup | CA2500049041 | SCN4A | c.3441+37dup (n.3441+37dup) | gnomAD v3 gnomAD v4 |
| 17 | g.63947008_63947009del | CA2639314667 | SCN4A | c.3441+36_3441+37del (n.3441+36_3441+37del) | gnomAD v4 |
| 17 | g.63947008_63947009insAAC | CA985430223 | SCN4A | c.3441+36_3441+37insGTT (n.3441+36_3441+37insGTT) | gnomAD v3 gnomAD v4 |
| 17 | g.63947008_63947009insAAAC | CA2639314729 | SCN4A | c.3441+36_3441+37insGTTT (n.3441+36_3441+37insGTTT) | gnomAD v4 |
| 17 | g.63947008_63947009insAACC | CA985430216 | SCN4A | c.3441+36_3441+37insGGTT (n.3441+36_3441+37insGGTT) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63947008_63947009insAGCC | CA2639314706 | SCN4A | c.3441+36_3441+37insGGCT (n.3441+36_3441+37insGGCT) | gnomAD v4 |
| 17 | g.63947008_63947009insCCCC | CA2810127890 | SCN4A | c.3441+36_3441+37insGGGG (n.3441+36_3441+37insGGGG) | |
| 17 | g.63947008_63947009insGACC | CA2639314721 | SCN4A | c.3441+36_3441+37insGGTC (n.3441+36_3441+37insGGTC) | gnomAD v4 |
| 17 | g.63947008_63947009insAAACC | CA2639314732 | SCN4A | c.3441+36_3441+37insGGTTT (n.3441+36_3441+37insGGTTT) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCC | CA2639314735 | SCN4A | c.3441+36_3441+37insGGGTT (n.3441+36_3441+37insGGGTT) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCC | CA2639314736 | SCN4A | c.3441+36_3441+37insGGGGTT (n.3441+36_3441+37insGGGGTT) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCC | CA2639314748 | SCN4A | c.3441+36_3441+37insGGGGGTT (n.3441+36_3441+37insGGGGGTT) | gnomAD v4 |
| 17 | g.63947008_63947009insCCCCCCCC | CA2639314703 | SCN4A | c.3441+36_3441+37insGGGGGGGG (n.3441+36_3441+37insGGGGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCC | CA2639314751 | SCN4A | c.3441+36_3441+37insGGGGGGGTT (n.3441+36_3441+37insGGGGGGGTT) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCC | CA2639314753 | SCN4A | c.3441+36_3441+37insGGGGGGGGTT (n.3441+36_3441+37insGGGGGGGGTT) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCC | CA2639314755 | SCN4A | c.3441+36_3441+37insGGGGGGGGGTT (n.3441+36_3441+37insGGGGGGGGGTT) | gnomAD v4 |
| 17 | g.63947008_63947009insACCCCCCCCAC | CA2639314769 | SCN4A | c.3441+36_3441+37insGTGGGGGGGGT (n.3441+36_3441+37insGTGGGGGGGGT) | gnomAD v4 |
| 17 | g.63947008_63947009insACCCCCCCCCC | CA2639314727 | SCN4A | c.3441+36_3441+37insGGGGGGGGGGT (n.3441+36_3441+37insGGGGGGGGGGT) | gnomAD v4 |
| 17 | g.63947008_63947009insCCCCCCCCCCC | CA2639314718 | SCN4A | c.3441+36_3441+37insGGGGGGGGGGG (n.3441+36_3441+37insGGGGGGGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCC | CA2639314774 | SCN4A | c.3441+36_3441+37insGGGGGGGGGGTT (n.3441+36_3441+37insGGGGGGGGGGTT) | gnomAD v4 |
| 17 | g.63947008_63947009insACCCCCCCCCCC | CA2639314777 | SCN4A | c.3441+36_3441+37insGGGGGGGGGGGT (n.3441+36_3441+37insGGGGGGGGGGGT) | gnomAD v4 |
| 17 | g.63947008_63947009insCCCCCCCCCCCC | CA2639314719 | SCN4A | c.3441+36_3441+37insGGGGGGGGGGGG (n.3441+36_3441+37insGGGGGGGGGGGG) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCCC | CA2639314758 | SCN4A | c.3441+36_3441+37insGGGGGGGGGGGTT (n.3441+36_3441+37insGGGGGGGGGGGTT) | gnomAD v4 |
| 17 | g.63947008_63947009insACCCCCCCCCCCC | CA2639314704 | SCN4A | c.3441+36_3441+37insGGGGGGGGGGGGT (n.3441+36_3441+37insGGGGGGGGGGGGT) | gnomAD v4 |
| 17 | g.63947008_63947009insACCCCCCCCCCCCCCCAGG | CA2639314715 | SCN4A | c.3441+36_3441+37insCCTGGGGGGGGGGGGGGGT (n.3441+36_3441+37insCCTGGGGGGGGGGGGGGGT) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCAG | CA2639314761 | SCN4A | c.3441+36_3441+37insCTGGGGGGGGGGGGGGGTT (n.3441+36_3441+37insCTGGGGGGGGGGGGGGGTT) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCAGG | CA2639314762 | SCN4A | c.3441+36_3441+37insCCTGGGGGGGGGGGGGGGTT (n.3441+36_3441+37insCCTGGGGGGGGGGGGGGGTT) | gnomAD v4 |
| 17 | g.63947008_63947009insACCCCCCCCCCCCCCCAGGGCCCC | CA2639314710 | SCN4A | c.3441+36_3441+37insGGGGCCCTGGGGGGGGGGGGGGGT (n.3441+36_3441+37insGGGGCCCTGGGGGGGGGGGGGGGT) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCAGGGCCCC | CA2639314767 | SCN4A | c.3441+36_3441+37insGGGGCCCTGGGGGGGGGGGGGGGTT (n.3441+36_3441+37insGGGGCCCTGGGGGGGGGGGGGGGTT) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCAGGCCCCC | CA2639314765 | SCN4A | c.3441+36_3441+37insGGGGGCCTGGGGGGGGGGGGGGGTT (n.3441+36_3441+37insGGGGGCCTGGGGGGGGGGGGGGGTT) | gnomAD v4 |
| 17 | g.63947008_63947009insACCCCCCCCCCCCCCCAGGGCCCCAGAGCAACCCC | CA2639314709 | SCN4A | c.3441+36_3441+37insGGGGTTGCTCTGGGGCCCTGGGGGGGGGGGGGGGT (n.3441+36_3441+37insGGGGTTGCTCTGGGGCCCTGGGGGGGGGGGGGGGT) | gnomAD v4 |
| 17 | g.63947008_63947009insACCCCCCCCCCCCCCCCGGCCCCCAAACCCCCCCC | CA2639314707 | SCN4A | c.3441+36_3441+37insGGGGGGGGTTTGGGGGCCGGGGGGGGGGGGGGGGT (n.3441+36_3441+37insGGGGGGGGTTTGGGGGCCGGGGGGGGGGGGGGGGT) | gnomAD v4 |
| 17 | g.63947008_63947009insACCCCCCCCCCCCCCCAGGCCCCCAGACCCCCCCC | CA2639314713 | SCN4A | c.3441+36_3441+37insGGGGGGGGTCTGGGGGCCTGGGGGGGGGGGGGGGT (n.3441+36_3441+37insGGGGGGGGTCTGGGGGCCTGGGGGGGGGGGGGGGT) | gnomAD v4 |
| 17 | g.63947008_63947009insACCCCCCCCCCCCCCCAGGCCCCAGAAACACCCCC | CA2810127891 | SCN4A | c.3441+36_3441+37insGGGGGTGTTTCTGGGGCCTGGGGGGGGGGGGGGGT (n.3441+36_3441+37insGGGGGTGTTTCTGGGGCCTGGGGGGGGGGGGGGGT) | |
| 17 | g.63947008_63947009insACCCCCCCCCCCCCCCCAGGCCCCAAAACACCCCC | CA2639314708 | SCN4A | c.3441+36_3441+37insGGGGGTGTTTTGGGGCCTGGGGGGGGGGGGGGGGT (n.3441+36_3441+37insGGGGGTGTTTTGGGGCCTGGGGGGGGGGGGGGGGT) | gnomAD v4 |
| 17 | g.63947008_63947009insACCCCCCCCCCCCCCCAGGCCCCCACAGCCCCCCC | CA2639314717 | SCN4A | c.3441+36_3441+37insGGGGGGGCTGTGGGGGCCTGGGGGGGGGGGGGGGT (n.3441+36_3441+37insGGGGGGGCTGTGGGGGCCTGGGGGGGGGGGGGGGT) | gnomAD v4 |
| 17 | g.63947008_63947009insAACCCCCCCCCCCCCCCAGGCCCCCAAAACACCCCC | CA2639314766 | SCN4A | c.3441+36_3441+37insGGGGGTGTTTTGGGGGCCTGGGGGGGGGGGGGGGTT (n.3441+36_3441+37insGGGGGTGTTTTGGGGGCCTGGGGGGGGGGGGGGGTT) | gnomAD v4 |
| 17 | g.63947009del | CA2639314722 | SCN4A | c.3441+36del (n.3441+36del) | gnomAD v4 |
| 17 | g.63947009T>A | CA985430215 | SCN4A | c.3441+36A>T (n.3441+36A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63947009T>C | CA626861332 | SCN4A | c.3441+36A>G (n.3441+36A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63947009T>G | CA2639314726 | SCN4A | c.3441+36A>C (n.3441+36A>C) | gnomAD v4 |
| 17 | g.63947009T= | CA2270163732 | SCN4A | c.3441+36A= (n.3441+36A=) | |
| 17 | g.63947009_63947012del | CA2639314723 | SCN4A | c.3441+33_3441+36del (n.3441+33_3441+36del) | gnomAD v4 |
| 17 | g.63947009_63947013del | CA2596764812 | SCN4A | c.3441+32_3441+36del (n.3441+32_3441+36del) | gnomAD v3 gnomAD v4 |
| 17 | g.63947009_63947010insA | CA2639314834 | SCN4A | c.3441+35_3441+36insT (n.3441+35_3441+36insT) | gnomAD v4 |
| 17 | g.63947009_63947010insAC | CA2556621181 | SCN4A | c.3441+35_3441+36insGT (n.3441+35_3441+36insGT) | gnomAD v4 |
| 17 | g.63947009_63947010insACC | CA2639314845 | SCN4A | c.3441+35_3441+36insGGT (n.3441+35_3441+36insGGT) | gnomAD v4 |
| 17 | g.63947009_63947010insACCC | CA2639314836 | SCN4A | c.3441+35_3441+36insGGGT (n.3441+35_3441+36insGGGT) | gnomAD v4 |
| 17 | g.63947009_63947010insACCCC | CA2639314832 | SCN4A | c.3441+35_3441+36insGGGGT (n.3441+35_3441+36insGGGGT) | gnomAD v4 |
| 17 | g.63947009_63947010insACCCCC | CA2810127894 | SCN4A | c.3441+35_3441+36insGGGGGT (n.3441+35_3441+36insGGGGGT) | |
| 17 | g.63947009_63947010insACCCCCCCCCC | CA2810127893 | SCN4A | c.3441+35_3441+36insGGGGGGGGGGT (n.3441+35_3441+36insGGGGGGGGGGT) | |
| 17 | g.63947009_63947010insGAGCCCCCCCC | CA2639314812 | SCN4A | c.3441+35_3441+36insGGGGGGGGCTC (n.3441+35_3441+36insGGGGGGGGCTC) | gnomAD v4 |
| 17 | g.63947009_63947010insACCCCCCCCCCC | CA2639314831 | SCN4A | c.3441+35_3441+36insGGGGGGGGGGGT (n.3441+35_3441+36insGGGGGGGGGGGT) | gnomAD v4 |
| 17 | g.63947009_63947010insGAACCACCCCCC | CA2810127892 | SCN4A | c.3441+35_3441+36insGGGGGGTGGTTC (n.3441+35_3441+36insGGGGGGTGGTTC) | |
| 17 | g.63947009_63947010insACCCCCCCCCCCC | CA2639314830 | SCN4A | c.3441+35_3441+36insGGGGGGGGGGGGT (n.3441+35_3441+36insGGGGGGGGGGGGT) | gnomAD v4 |
| 17 | g.63947010C>A | CA985430224 | SCN4A | c.3441+35G>T (n.3441+35G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63947010C= | CA2270163733 | SCN4A | c.3441+35G= (n.3441+35G=) | |
| 17 | g.63947010C>G | CA2639314823 | SCN4A | c.3441+35G>C (n.3441+35G>C) | gnomAD v4 |
| 17 | g.63947010C>T | CA2639314824 | SCN4A | c.3441+35G>A (n.3441+35G>A) | gnomAD v4 |
| 17 | g.63947010_63947011insACCACCCCCCC | CA2639314827 | SCN4A | c.3441+35_3441+36insGGGGGGTGGTG (n.3441+35_3441+36insGGGGGGTGGTG) | gnomAD v4 |
| 17 | g.63947010_63947011insACCCCCCCCCC | CA2639314826 | SCN4A | c.3441+35_3441+36insGGGGGGGGGTG (n.3441+35_3441+36insGGGGGGGGGTG) | gnomAD v4 |
| 17 | g.63947010_63947011insAGCACCCCCCC | CA2639314838 | SCN4A | c.3441+35_3441+36insGGGGGGTGCTG (n.3441+35_3441+36insGGGGGGTGCTG) | gnomAD v4 |
| 17 | g.63947010_63947011insAGCCCCCCCCC | CA2639314810 | SCN4A | c.3441+35_3441+36insGGGGGGGGCTG (n.3441+35_3441+36insGGGGGGGGCTG) | gnomAD v4 |
| 17 | g.63947010_63947013del | CA2639314816 | SCN4A | c.3441+32_3441+35del (n.3441+32_3441+35del) | gnomAD v4 |
| 17 | g.63947013_63947014insCCCCC | CA2639314811 | SCN4A | c.3441+35_3441+36insGGGGG (n.3441+35_3441+36insGGGGG) | gnomAD v4 |
| 17 | g.63947013dup | CA2639314829 | SCN4A | c.3441+35dup (n.3441+35dup) | gnomAD v4 |
| 17 | g.63947013del | CA2639314813 | SCN4A | c.3441+35del (n.3441+35del) | gnomAD v4 |
| 17 | g.63947012_63947013del | CA2639314815 | SCN4A | c.3441+34_3441+35del (n.3441+34_3441+35del) | gnomAD v4 |
| 17 | g.63947013_63947023del | CA2639314825 | SCN4A | c.3441+25_3441+35del (n.3441+25_3441+35del) | gnomAD v4 |
| 17 | g.63947016_63947025del | CA2639314821 | SCN4A | c.3441+26_3441+35del (n.3441+26_3441+35del) | gnomAD v4 |
| 17 | g.63947010_63947011insAA | CA2639314955 | SCN4A | c.3441+34_3441+35insTT (n.3441+34_3441+35insTT) | gnomAD v4 |
| 17 | g.63947010_63947011insAG | CA2639314876 | SCN4A | c.3441+34_3441+35insCT (n.3441+34_3441+35insCT) | gnomAD v4 |
| 17 | g.63947010_63947011insAAA | CA2639314952 | SCN4A | c.3441+34_3441+35insTTT (n.3441+34_3441+35insTTT) | gnomAD v4 |
| 17 | g.63947011C>A | CA2639314858 | SCN4A | c.3441+34G>T (n.3441+34G>T) | gnomAD v4 |
| 17 | g.63947011C= | CA2270163734 | SCN4A | c.3441+34G= (n.3441+34G=) | |
| 17 | g.63947011C>G | CA2639314865 | SCN4A | c.3441+34G>C (n.3441+34G>C) | gnomAD v4 |
| 17 | g.63947011C>T | CA292962449 | SCN4A | c.3441+34G>A (n.3441+34G>A) | dbSNP gnomAD v4 |
| 17 | g.63947013_63947014insCCCCCCCCCCCCCGCCCCCAAACCC | CA2639314873 | SCN4A | c.3441+34_3441+35insTTTGGGGGCGGGGGGGGGGGGGGGG (n.3441+34_3441+35insTTTGGGGGCGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 17 | g.63947013_63947014insCCCCCCCCCCCAAGCCCCCAAACCC | CA2810127895 | SCN4A | c.3441+34_3441+35insTTTGGGGGCTTGGGGGGGGGGGGGG (n.3441+34_3441+35insTTTGGGGGCTTGGGGGGGGGGGGGG) | |
| 17 | g.63947013_63947014insCCCCCCCCCCCAGGCCCCCAAACCC | CA2639314871 | SCN4A | c.3441+34_3441+35insTTTGGGGGCCTGGGGGGGGGGGGGG (n.3441+34_3441+35insTTTGGGGGCCTGGGGGGGGGGGGGG) | gnomAD v4 |
| 17 | g.63947015_63947019del | CA2639314869 | SCN4A | c.3441+30_3441+34del (n.3441+30_3441+34del) | gnomAD v4 |
| 17 | g.63947012C>A | CA2639314975 | SCN4A | c.3441+33G>T (n.3441+33G>T) | gnomAD v4 |
| 17 | g.63947012C= | CA2270163735 | SCN4A | c.3441+33G= (n.3441+33G=) | |
| 17 | g.63947012C>G | CA2639314983 | SCN4A | c.3441+33G>C (n.3441+33G>C) | gnomAD v4 |
| 17 | g.63947012C>T | CA626861333 | SCN4A | c.3441+33G>A (n.3441+33G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63947013_63947014insCCCCCCCCCCCAGGGCCCCAAAACACCCCCCCACC | CA2639314970 | SCN4A | c.3441+33_3441+34insTGGGGGGGTGTTTTGGGGCCCTGGGGGGGGGGGGG (n.3441+33_3441+34insTGGGGGGGTGTTTTGGGGCCCTGGGGGGGGGGGGG) | gnomAD v4 |
| 17 | g.63947014_63947017del | CA2576355659 | SCN4A | c.3441+30_3441+33del (n.3441+30_3441+33del) | gnomAD v4 |
| 17 | g.63947013C>A | CA2639314997 | SCN4A | c.3441+32G>T (n.3441+32G>T) | gnomAD v4 |
| 17 | g.63947013C= | CA2270163736 | SCN4A | c.3441+32G= (n.3441+32G=) | |
| 17 | g.63947013C>T | CA626861334 | SCN4A | c.3441+32G>A (n.3441+32G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63947013_63947014insCCCCCACCCCCCAGGCCCCCTC | CA2639315007 | SCN4A | c.3441+32_3441+33insAGGGGGCCTGGGGGGTGGGGGG (n.3441+32_3441+33insAGGGGGCCTGGGGGGTGGGGGG) | gnomAD v4 |
| 17 | g.63947013_63947014insCCCCCCCCCCCCAGGCCCCCTC | CA2639315001 | SCN4A | c.3441+32_3441+33insAGGGGGCCTGGGGGGGGGGGGG (n.3441+32_3441+33insAGGGGGCCTGGGGGGGGGGGGG) | gnomAD v4 |
| 17 | g.63947013_63947014insCCCCCCCCCCCCAGGCCCCATC | CA2639315005 | SCN4A | c.3441+32_3441+33insATGGGGCCTGGGGGGGGGGGGG (n.3441+32_3441+33insATGGGGCCTGGGGGGGGGGGGG) | gnomAD v4 |
| 17 | g.63947013_63947015delinsCAG | CA2270163737 | SCN4A | c.3441+30_3441+32delinsCTG (n.3441+30_3441+32delinsCTG) | |
| 17 | g.63947014_63947016del | CA2576355660 | SCN4A | c.3441+30_3441+32del (n.3441+30_3441+32del) | |
| 17 | g.63947013_63947014insCCCCCCCCCA | CA2639315045 | SCN4A | c.3441+31_3441+32insTGGGGGGGGG (n.3441+31_3441+32insTGGGGGGGGG) | gnomAD v4 |
| 17 | g.63947013_63947014insCCCCCCCCCCCA | CA2639315042 | SCN4A | c.3441+31_3441+32insTGGGGGGGGGGG (n.3441+31_3441+32insTGGGGGGGGGGG) | gnomAD v4 |
| 17 | g.63947013_63947014insCCCCCCCCCCCAGGGCCCCTG | CA2639315038 | SCN4A | c.3441+31_3441+32insCAGGGGCCCTGGGGGGGGGGG (n.3441+31_3441+32insCAGGGGCCCTGGGGGGGGGGG) | gnomAD v4 |
| 17 | g.63947013_63947014insCCCCCCCCCCCAGGCCCCCTG | CA2639315032 | SCN4A | c.3441+31_3441+32insCAGGGGGCCTGGGGGGGGGGG (n.3441+31_3441+32insCAGGGGGCCTGGGGGGGGGGG) | gnomAD v4 |
| 17 | g.63947013_63947014insCCCCCCCCCCCAGGCCCCCTAA | CA2639315035 | SCN4A | c.3441+31_3441+32insTTAGGGGGCCTGGGGGGGGGGG (n.3441+31_3441+32insTTAGGGGGCCTGGGGGGGGGGG) | gnomAD v4 |
| 17 | g.63947014del | CA2639315027 | SCN4A | c.3441+31del (n.3441+31del) | gnomAD v4 |
| 17 | g.63947014A= | CA2270163738 | SCN4A | c.3441+31T= (n.3441+31T=) | |
| 17 | g.63947014A>C | CA985430226 | SCN4A | c.3441+31T>G (n.3441+31T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63947014A>G | CA626861335 | SCN4A | c.3441+31T>C (n.3441+31T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63947014A>T | CA2810127897 | SCN4A | c.3441+31T>A (n.3441+31T>A) | |
| 17 | g.63947014_63947015del | CA985430225 | SCN4A | c.3441+30_3441+31del (n.3441+30_3441+31del) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63947014_63947019del | CA2596764813 | SCN4A | c.3441+26_3441+31del (n.3441+26_3441+31del) | gnomAD v3 gnomAD v4 |
| 17 | g.63947014_63947015insC | CA2639315077 | SCN4A | c.3441+30_3441+31insG (n.3441+30_3441+31insG) | gnomAD v4 |
| 17 | g.63947014_63947015insCC | CA2639315075 | SCN4A | c.3441+30_3441+31insGG (n.3441+30_3441+31insGG) | gnomAD v4 |
| 17 | g.63947015del | CA2639315068 | SCN4A | c.3441+30del (n.3441+30del) | gnomAD v4 |
| 17 | g.63947015G>A | CA8709274 | SCN4A | c.3441+30C>T (n.3441+30C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 17 | g.63947015G>C | CA985430231 | SCN4A | c.3441+30C>G (n.3441+30C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63947015G= | CA2270163739 | SCN4A | c.3441+30C= (n.3441+30C=) | |
| 17 | g.63947015G>T | CA626861336 | SCN4A | c.3441+30C>A (n.3441+30C>A) | gnomAD v2 gnomAD v4 |
| 17 | g.63947015_63947016insGG | CA2639315072 | SCN4A | c.3441+30_3441+31insCC (n.3441+30_3441+31insCC) | gnomAD v4 |
| 17 | g.63947015_63947016delinsGC | CA2270163740 | SCN4A | c.3441+29_3441+30delinsGC (n.3441+29_3441+30delinsGC) | |
| 17 | g.63947015_63947018del | CA2639315066 | SCN4A | c.3441+27_3441+30del (n.3441+27_3441+30del) | gnomAD v4 |
| 17 | g.63947015_63947016insGC | CA2639315133 | SCN4A | c.3441+29_3441+30insGC (n.3441+29_3441+30insGC) | gnomAD v4 |
| 17 | g.63947015_63947016insGCC | CA2639315132 | SCN4A | c.3441+29_3441+30insGGC (n.3441+29_3441+30insGGC) | gnomAD v4 |
| 17 | g.63947015_63947016insGCCCCCTAACCCC | CA2639315129 | SCN4A | c.3441+29_3441+30insGGGGTTAGGGGGC (n.3441+29_3441+30insGGGGTTAGGGGGC) | gnomAD v4 |
| 17 | g.63947015_63947016insGCCCCCTCACCCCCC | CA2639315103 | SCN4A | c.3441+29_3441+30insGGGGGGTGAGGGGGC (n.3441+29_3441+30insGGGGGGTGAGGGGGC) | gnomAD v4 |
| 17 | g.63947015_63947016insGCCCCCTCAGCCCCCC | CA2639315152 | SCN4A | c.3441+29_3441+30insGGGGGGCTGAGGGGGC (n.3441+29_3441+30insGGGGGGCTGAGGGGGC) | gnomAD v4 |
| 17 | g.63947015_63947016insGCCCCCTGAACACCCC | CA2639315125 | SCN4A | c.3441+29_3441+30insGGGGTGTTCAGGGGGC (n.3441+29_3441+30insGGGGTGTTCAGGGGGC) | gnomAD v4 |
| 17 | g.63947015_63947016insGGCCCCTAAGCCACCCCC | CA2639315124 | SCN4A | c.3441+29_3441+30insGGGGGTGGCTTAGGGGCC (n.3441+29_3441+30insGGGGGTGGCTTAGGGGCC) | gnomAD v4 |
| 17 | g.63947015_63947016insGCCCCCAAACCACCCCCCCACAAA | CA2639315131 | SCN4A | c.3441+29_3441+30insTTTGTGGGGGGGTGGTTTGGGGGC (n.3441+29_3441+30insTTTGTGGGGGGGTGGTTTGGGGGC) | gnomAD v4 |
| 17 | g.63947016C>A | CA2639315113 | SCN4A | c.3441+29G>T (n.3441+29G>T) | gnomAD v4 |
| 17 | g.63947016C>G | CA2639315110 | SCN4A | c.3441+29G>C (n.3441+29G>C) | gnomAD v4 |
| 17 | g.63947016C>T | CA2576355661 | SCN4A | c.3441+29G>A (n.3441+29G>A) | gnomAD v4 |
| 17 | g.63947018_63947019insCCCC | CA2639315137 | SCN4A | c.3441+29_3441+30insGGGG (n.3441+29_3441+30insGGGG) | gnomAD v4 |
| 17 | g.63947018_63947019insCCCCCCCC | CA2810127898 | SCN4A | c.3441+29_3441+30insGGGGGGGG (n.3441+29_3441+30insGGGGGGGG) | |
| 17 | g.63947018dup | CA2639315148 | SCN4A | c.3441+29dup (n.3441+29dup) | gnomAD v4 |
| 17 | g.63947017_63947018dup | CA2639315141 | SCN4A | c.3441+28_3441+29dup (n.3441+28_3441+29dup) | gnomAD v4 |
| 17 | g.63947018del | CA626861337 | SCN4A | c.3441+29del (n.3441+29del) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63947017_63947018del | CA2576355663 | SCN4A | c.3441+28_3441+29del (n.3441+28_3441+29del) | |
| 17 | g.63947020_63947024del | CA2576355662 | SCN4A | c.3441+25_3441+29del (n.3441+25_3441+29del) | gnomAD v4 |
| 17 | g.63947017C>A | CA2639315163 | SCN4A | c.3441+28G>T (n.3441+28G>T) | gnomAD v4 |
| 17 | g.63947017C= | CA2270163741 | SCN4A | c.3441+28G= (n.3441+28G=) | |
| 17 | g.63947017C>T | CA8709275 | SCN4A | c.3441+28G>A (n.3441+28G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63947018C>A | CA2639315171 | SCN4A | c.3441+27G>T (n.3441+27G>T) | gnomAD v4 |
| 17 | g.63947018C>T | CA2639315172 | SCN4A | c.3441+27G>A (n.3441+27G>A) | gnomAD v4 |
| 17 | g.63947019_63947020del | CA2639315170 | SCN4A | c.3441+26_3441+27del (n.3441+26_3441+27del) | gnomAD v4 |
| 17 | g.63947019del | CA2576355664 | SCN4A | c.3441+26del (n.3441+26del) | gnomAD v4 |
| 17 | g.63947019A= | CA2270163742 | SCN4A | c.3441+26T= (n.3441+26T=) | |
| 17 | g.63947019A>C | CA626861338 | SCN4A | c.3441+26T>G (n.3441+26T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63947019A>G | CA2639315247 | SCN4A | c.3441+26T>C (n.3441+26T>C) | gnomAD v4 |
| 17 | g.63947019A>T | CA2639315245 | SCN4A | c.3441+26T>A (n.3441+26T>A) | gnomAD v4 |
| 17 | g.63947019_63947020insAC | CA2639315283 | SCN4A | c.3441+25_3441+26insGT (n.3441+25_3441+26insGT) | gnomAD v4 |
| 17 | g.63947019_63947020insGG | CA2639315289 | SCN4A | c.3441+25_3441+26insCC (n.3441+25_3441+26insCC) | gnomAD v4 |
| 17 | g.63947019_63947020insAAT | CA2639315274 | SCN4A | c.3441+25_3441+26insATT (n.3441+25_3441+26insATT) | gnomAD v4 |
| 17 | g.63947019_63947020insGGC | CA2639315285 | SCN4A | c.3441+25_3441+26insGCC (n.3441+25_3441+26insGCC) | gnomAD v4 |
| 17 | g.63947019_63947020insAAAGCACCC | CA2639315272 | SCN4A | c.3441+25_3441+26insGGGTGCTTT (n.3441+25_3441+26insGGGTGCTTT) | gnomAD v4 |
| 17 | g.63947020C>A | CA2576355665 | SCN4A | c.3441+25G>T (n.3441+25G>T) | gnomAD v4 |
| 17 | g.63947020C= | CA2270163743 | SCN4A | c.3441+25G= (n.3441+25G=) | |
| 17 | g.63947020C>G | CA2810127899 | SCN4A | c.3441+25G>C (n.3441+25G>C) | |
| 17 | g.63947020C>T | CA8709276 | SCN4A | c.3441+25G>A (n.3441+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63947023_63947024insCCCCCC | CA2639315300 | SCN4A | c.3441+25_3441+26insGGGGGG (n.3441+25_3441+26insGGGGGG) | gnomAD v4 |
| 17 | g.63947023dup | CA2639315261 | SCN4A | c.3441+25dup (n.3441+25dup) | gnomAD v4 |
| 17 | g.63947022_63947023dup | CA2639315258 | SCN4A | c.3441+24_3441+25dup (n.3441+24_3441+25dup) | gnomAD v4 |
| 17 | g.63947023del | CA2569710238 | SCN4A | c.3441+25del (n.3441+25del) | gnomAD v4 |
| 17 | g.63947022_63947023del | CA2639315267 | SCN4A | c.3441+24_3441+25del (n.3441+24_3441+25del) | gnomAD v4 |
| 17 | g.63947021C>A | CA8709277 | SCN4A | c.3441+24G>T (n.3441+24G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63947021C= | CA2270163744 | SCN4A | c.3441+24G= (n.3441+24G=) | |
| 17 | g.63947021C>T | CA8709278 | SCN4A | c.3441+24G>A (n.3441+24G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63947022C>A | CA2639315319 | SCN4A | c.3441+23G>T (n.3441+23G>T) | gnomAD v4 |
| 17 | g.63947022C= | CA2270163745 | SCN4A | c.3441+23G= (n.3441+23G=) | |
| 17 | g.63947022C>G | CA774010032 | SCN4A | c.3441+23G>C (n.3441+23G>C) | dbSNP |
| 17 | g.63947022C>T | CA2639315322 | SCN4A | c.3441+23G>A (n.3441+23G>A) | gnomAD v4 |
| 17 | g.63947022_63947024delinsCCA | CA2270163746 | SCN4A | c.3441+21_3441+23delinsTGG (n.3441+21_3441+23delinsTGG) | |
| 17 | g.63947023C>A | CA2639315325 | SCN4A | c.3441+22G>T (n.3441+22G>T) | gnomAD v4 |
| 17 | g.63947023C>T | CA2639315324 | SCN4A | c.3441+22G>A (n.3441+22G>A) | gnomAD v4 |
| 17 | g.63947023_63947024del | CA626861339 | SCN4A | c.3441+21_3441+22del (n.3441+21_3441+22del) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63947023_63947024insCCCA | CA2639315329 | SCN4A | c.3441+21_3441+22insTGGG (n.3441+21_3441+22insTGGG) | gnomAD v4 |
| 17 | g.63947024A= | CA2270163747 | SCN4A | c.3441+21T= (n.3441+21T=) | |
| 17 | g.63947024A>C | CA774010033 | SCN4A | c.3441+21T>G (n.3441+21T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63947024A>G | CA2639315336 | SCN4A | c.3441+21T>C (n.3441+21T>C) | gnomAD v4 |
| 17 | g.63947024_63947026del | CA2639315331 | SCN4A | c.3441+19_3441+21del (n.3441+19_3441+21del) | gnomAD v4 |
| 17 | g.63947026_63947027del | CA2596764814 | SCN4A | c.3441+20_3441+21del (n.3441+20_3441+21del) | gnomAD v3 gnomAD v4 |
| 17 | g.63947024_63947028del | CA2639315333 | SCN4A | c.3441+17_3441+21del (n.3441+17_3441+21del) | dbSNP gnomAD v4 |
| 17 | g.63947025del | CA2639315342 | SCN4A | c.3441+20del (n.3441+20del) | gnomAD v4 |
| 17 | g.63947025G>A | CA2639315351 | SCN4A | c.3441+20C>T (n.3441+20C>T) | gnomAD v4 |
| 17 | g.63947025G>C | CA2502174127 | SCN4A | c.3441+20C>G (n.3441+20C>G) | gnomAD v3 gnomAD v4 |
| 17 | g.63947025G= | CA2270163748 | SCN4A | c.3441+20C= (n.3441+20C=) | |
| 17 | g.63947025G>T | CA626861340 | SCN4A | c.3441+20C>A (n.3441+20C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63947025_63947028del | CA2639315345 | SCN4A | c.3441+17_3441+20del (n.3441+17_3441+20del) | gnomAD v4 |
| 17 | g.63947025_63947026insGCCCCCCCCCAAACGGCCAC | CA2639315364 | SCN4A | c.3441+19_3441+20insGTGGCCGTTTGGGGGGGGGC (n.3441+19_3441+20insGTGGCCGTTTGGGGGGGGGC) | gnomAD v4 |
| 17 | g.63947026del | CA2639315363 | SCN4A | c.3441+19del (n.3441+19del) | gnomAD v4 |
| 17 | g.63947026A>C | CA2639315360 | SCN4A | c.3441+19T>G (n.3441+19T>G) | gnomAD v4 |
| 17 | g.63947026A>G | CA2639315362 | SCN4A | c.3441+19T>C (n.3441+19T>C) | gnomAD v4 |
| 17 | g.63947026A>T | CA2639315361 | SCN4A | c.3441+19T>A (n.3441+19T>A) | gnomAD v4 |
| 17 | g.63947027G>A | CA2639315372 | SCN4A | c.3441+18C>T (n.3441+18C>T) | gnomAD v4 |
| 17 | g.63947027G>C | CA2639315374 | SCN4A | c.3441+18C>G (n.3441+18C>G) | gnomAD v4 |
| 17 | g.63947027G>T | CA2639315376 | SCN4A | c.3441+18C>A (n.3441+18C>A) | gnomAD v4 |
| 17 | g.63947028del | CA2639315371 | SCN4A | c.3441+18del (n.3441+18del) | gnomAD v4 |
| 17 | g.63947028G>A | CA8709279 | SCN4A | c.3441+17C>T (n.3441+17C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63947028G>C | CA2639315382 | SCN4A | c.3441+17C>G (n.3441+17C>G) | gnomAD v4 |
| 17 | g.63947028G= | CA2270163749 | SCN4A | c.3441+17C= (n.3441+17C=) | |
| 17 | g.63947028G>T | CA2270163750 | SCN4A | c.3441+17C>A (n.3441+17C>A) | dbSNP gnomAD v4 |
| 17 | g.63947029C>A | CA2639315386 | SCN4A | c.3441+16G>T (n.3441+16G>T) | gnomAD v4 |
| 17 | g.63947029C>G | CA2639315387 | SCN4A | c.3441+16G>C (n.3441+16G>C) | gnomAD v4 |
| 17 | g.63947029C>T | CA2639315390 | SCN4A | c.3441+16G>A (n.3441+16G>A) | gnomAD v4 |
| 17 | g.63947032del | CA2639315385 | SCN4A | c.3441+16del (n.3441+16del) | gnomAD v4 |
| 17 | g.63947030C>A | CA8709281 | SCN4A | c.3441+15G>T (n.3441+15G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63947030C= | CA2270163751 | SCN4A | c.3441+15G= (n.3441+15G=) | |
| 17 | g.63947030C>T | CA8709280 | SCN4A | c.3441+15G>A (n.3441+15G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63947031C>A | CA2639315397 | SCN4A | c.3441+14G>T (n.3441+14G>T) | gnomAD v4 |
| 17 | g.63947031C>T | CA2576355666 | SCN4A | c.3441+14G>A (n.3441+14G>A) | gnomAD v4 |
| 17 | g.63947032_63947033insCAAACC | CA2639315396 | SCN4A | c.3441+14_3441+15insTTTGGG (n.3441+14_3441+15insTTTGGG) | gnomAD v4 |
| 17 | g.63947032C>A | CA2639315409 | SCN4A | c.3441+13G>T (n.3441+13G>T) | gnomAD v4 |
| 17 | g.63947032C>T | CA2810127901 | SCN4A | c.3441+13G>A (n.3441+13G>A) | |
| 17 | g.63947033_63947035del | CA2639315403 | SCN4A | c.3441+11_3441+13del (n.3441+11_3441+13del) | gnomAD v4 |
| 17 | g.63947033T>A | CA2270163752 | SCN4A | c.3441+12A>T (n.3441+12A>T) | dbSNP gnomAD v4 |
| 17 | g.63947033T>C | CA2639315424 | SCN4A | c.3441+12A>G (n.3441+12A>G) | gnomAD v4 |
| 17 | g.63947033T>G | CA2639315428 | SCN4A | c.3441+12A>C (n.3441+12A>C) | gnomAD v4 |
| 17 | g.63947033T= | CA2270163753 | SCN4A | c.3441+12A= (n.3441+12A=) | |
| 17 | g.63947033_63947034del | CA2639315417 | SCN4A | c.3441+11_3441+12del (n.3441+11_3441+12del) | gnomAD v4 |
| 17 | g.63947034del | CA2639315415 | SCN4A | c.3441+12del (n.3441+12del) | gnomAD v4 |
| 17 | g.63947033_63947039del | CA2639315420 | SCN4A | c.3441+6_3441+12del (n.3441+6_3441+12del) | gnomAD v4 |
| 17 | g.63947034T>A | CA2639315431 | SCN4A | c.3441+11A>T (n.3441+11A>T) | gnomAD v4 |
| 17 | g.63947035C>A | CA2639315445 | SCN4A | c.3441+10G>T (n.3441+10G>T) | gnomAD v4 |
| 17 | g.63947035C= | CA2270163754 | SCN4A | c.3441+10G= (n.3441+10G=) | |
| 17 | g.63947035C>G | CA774010036 | SCN4A | c.3441+10G>C (n.3441+10G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63947035C>T | CA2639315437 | SCN4A | c.3441+10G>A (n.3441+10G>A) | gnomAD v4 |
| 17 | g.63947036A>C | CA2639315448 | SCN4A | c.3441+9T>G (n.3441+9T>G) | gnomAD v4 |
| 17 | g.63947036A>G | CA2576355667 | SCN4A | c.3441+9T>C (n.3441+9T>C) | |
| 17 | g.63947036_63947037insAA | CA2639315447 | SCN4A | c.3441+9_3441+10insTT (n.3441+9_3441+10insTT) | gnomAD v4 |
| 17 | g.63947037G>A | CA2639315450 | SCN4A | c.3441+8C>T (n.3441+8C>T) | gnomAD v4 |
| 17 | g.63947037G>C | CA2639315454 | SCN4A | c.3441+8C>G (n.3441+8C>G) | gnomAD v4 |
| 17 | g.63947037G>T | CA2639315452 | SCN4A | c.3441+8C>A (n.3441+8C>A) | gnomAD v4 |
| 17 | g.63947038C= | CA2270163755 | SCN4A | c.3441+7G= (n.3441+7G=) | |
| 17 | g.63947038C>T | CA155074 | SCN4A | c.3441+7G>A (n.3441+7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63947039A>C | CA2639315471 | SCN4A | c.3441+6T>G (n.3441+6T>G) | gnomAD v4 |
| 17 | g.63947040C>A | CA2639315474 | SCN4A | c.3441+5G>T (n.3441+5G>T) | gnomAD v4 |
| 17 | g.63947041C>A | CA2639315480 | SCN4A | c.3441+4G>T (n.3441+4G>T) | gnomAD v4 |
| 17 | g.63947041C= | CA2270163756 | SCN4A | c.3441+4G= (n.3441+4G=) | |
| 17 | g.63947041C>T | CA8709282 | SCN4A | c.3441+4G>A (n.3441+4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63947042C>A | CA2639315500 | SCN4A | c.3441+3G>T (n.3441+3G>T) | gnomAD v4 |
| 17 | g.63947043del | CA2639315503 | SCN4A | c.3441+2del (n.3441+2del) | gnomAD v4 |
| 17 | g.63947043A>C | CA400619224 | SCN4A | c.3441+2T>G (n.3441+2T>G) | gnomAD v4 |
| 17 | g.63947043A>G | CA400619226 | SCN4A | c.3441+2T>C (n.3441+2T>C) | |
| 17 | g.63947043A>T | CA400619233 | SCN4A | c.3441+2T>A (n.3441+2T>A) | |
| 17 | g.63947044C>A | CA400619234 | SCN4A | c.3441+1G>T (n.3441+1G>T) | gnomAD v4 |
| 17 | g.63947044C>G | CA400619236 | SCN4A | c.3441+1G>C (n.3441+1G>C) | |
| 17 | g.63947044C>T | CA400619237 | SCN4A | c.3441+1G>A (n.3441+1G>A) | |
| 17 | g.63947045C>A | CA400619242 | SCN4A | c.3441G>T (p.Arg1147Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63947045C= | CA2270163757 | SCN4A | c.3441G= (p.Arg1147=) | |
| 17 | g.63947045C>G | CA400619240 | SCN4A | c.3441G>C (p.Arg1147Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63947045C>T | CA501219556 | SCN4A | c.3441G>A (p.Arg1147=) | |
| 17 | g.63947046C>A | CA400619244 | SCN4A | c.3440G>T (p.Arg1147Met) | gnomAD v4 |
| 17 | g.63947046C= | CA2270163758 | SCN4A | c.3440G= (p.Arg1147=) | |
| 17 | g.63947046C>G | CA400619246 | SCN4A | c.3440G>C (p.Arg1147Thr) | ClinVar dbSNP gnomAD v4 |
| 17 | g.63947046C>T | CA400619247 | SCN4A | c.3440G>A (p.Arg1147Lys) | gnomAD v4 |
| 17 | g.63947047T>A | CA400619251 | SCN4A | c.3439A>T (p.Arg1147Trp) | dbSNP gnomAD v4 |
| 17 | g.63947047T>C | CA400619252 | SCN4A | c.3439A>G (p.Arg1147Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63947047T>G | CA501219576 | SCN4A | c.3439A>C (p.Arg1147=) | |
| 17 | g.63947047T= | CA2270163759 | SCN4A | c.3439A= (p.Arg1147=) | |
| 17 | g.63947048C>A | CA400619260 | SCN4A | c.3438G>T (p.Met1146Ile) | dbSNP gnomAD v2 |
| 17 | g.63947048C= | CA2270163760 | SCN4A | c.3438G= (p.Met1146=) | |
| 17 | g.63947048C>G | CA400619257 | SCN4A | c.3438G>C (p.Met1146Ile) | |
| 17 | g.63947048C>T | CA400619255 | SCN4A | c.3438G>A (p.Met1146Ile) | gnomAD v4 |
| 17 | g.63947049A= | CA2270163761 | SCN4A | c.3437T= (p.Met1146=) | |
| 17 | g.63947049A>C | CA400619262 | SCN4A | c.3437T>G (p.Met1146Arg) | gnomAD v4 |
| 17 | g.63947049A>G | CA8709283 | SCN4A | c.3437T>C (p.Met1146Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63947049A>T | CA400619266 | SCN4A | c.3437T>A (p.Met1146Lys) | |
| 17 | g.63947050T>A | CA400619269 | SCN4A | c.3436A>T (p.Met1146Leu) | gnomAD v4 |
| 17 | g.63947050T>C | CA8709284 | SCN4A | c.3436A>G (p.Met1146Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63947050T>G | CA400619272 | SCN4A | c.3436A>C (p.Met1146Leu) | |
| 17 | g.63947050T= | CA2270163762 | SCN4A | c.3436A= (p.Met1146=) | |
| 17 | g.63947051G>A | CA501219591 | SCN4A | c.3435C>T (p.Gly1145=) | |
| 17 | g.63947051G>C | CA501219595 | SCN4A | c.3435C>G (p.Gly1145=) | |
| 17 | g.63947051G>T | CA501219598 | SCN4A | c.3435C>A (p.Gly1145=) | gnomAD v4 |
| 17 | g.63947052C>A | CA400619274 | SCN4A | c.3434G>T (p.Gly1145Val) | |
| 17 | g.63947052C>G | CA400619279 | SCN4A | c.3434G>C (p.Gly1145Ala) | |
| 17 | g.63947052C>T | CA400619277 | SCN4A | c.3434G>A (p.Gly1145Asp) | |
| 17 | g.63947053C>A | CA400619282 | SCN4A | c.3433G>T (p.Gly1145Cys) | |
| 17 | g.63947053C>G | CA400619284 | SCN4A | c.3433G>C (p.Gly1145Arg) | |
| 17 | g.63947053C>T | CA400619286 | SCN4A | c.3433G>A (p.Gly1145Ser) | |
| 17 | g.63947054C>A | CA400619288 | SCN4A | c.3432G>T (p.Glu1144Asp) | gnomAD v4 |
| 17 | g.63947054C= | CA2270163763 | SCN4A | c.3432G= (p.Glu1144=) | |
| 17 | g.63947054C>G | CA400619291 | SCN4A | c.3432G>C (p.Glu1144Asp) | gnomAD v4 |
| 17 | g.63947054C>T | CA8709285 | SCN4A | c.3432G>A (p.Glu1144=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63947055T>A | CA400619295 | SCN4A | c.3431A>T (p.Glu1144Val) | gnomAD v4 |
| 17 | g.63947055T>C | CA400619296 | SCN4A | c.3431A>G (p.Glu1144Gly) | gnomAD v4 |
| 17 | g.63947055T>G | CA400619298 | SCN4A | c.3431A>C (p.Glu1144Ala) | |
| 17 | g.63947056C>A | CA400619301 | SCN4A | c.3430G>T (p.Glu1144Ter) | |
| 17 | g.63947056C= | CA2270163764 | SCN4A | c.3430G= (p.Glu1144=) | |
| 17 | g.63947056C>G | CA400619302 | SCN4A | c.3430G>C (p.Glu1144Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63947056C>T | CA8709286 | SCN4A | c.3430G>A (p.Glu1144Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63947056_63947057del | CA645580712 | SCN4A | c.3429_3430del (p.Phe1143LeufsTer?) | COSMIC |
| 17 | g.63947057G>A | CA8709287 | SCN4A | c.3429C>T (p.Phe1143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63947057G>C | CA400619308 | SCN4A | c.3429C>G (p.Phe1143Leu) | gnomAD v4 |
| 17 | g.63947057G= | CA2270163765 | SCN4A | c.3429C= (p.Phe1143=) | |
| 17 | g.63947057G>T | CA400619306 | SCN4A | c.3429C>A (p.Phe1143Leu) | |
| 17 | g.63947058A= | CA2270163766 | SCN4A | c.3428T= (p.Phe1143=) | |
| 17 | g.63947058A>C | CA400619312 | SCN4A | c.3428T>G (p.Phe1143Cys) | |
| 17 | g.63947058A>G | CA400619310 | SCN4A | c.3428T>C (p.Phe1143Ser) | |
| 17 | g.63947058A>T | CA400619314 | SCN4A | c.3428T>A (p.Phe1143Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63947059A>C | CA400619317 | SCN4A | c.3427T>G (p.Phe1143Val) | |
| 17 | g.63947059A>G | CA400619321 | SCN4A | c.3427T>C (p.Phe1143Leu) | |
| 17 | g.63947059A>T | CA400619319 | SCN4A | c.3427T>A (p.Phe1143Ile) | |
| 17 | g.63947060T>A | CA501219639 | SCN4A | c.3426A>T (p.Arg1142=) | |
| 17 | g.63947060T>C | CA501219640 | SCN4A | c.3426A>G (p.Arg1142=) | |
| 17 | g.63947060T>G | CA501219641 | SCN4A | c.3426A>C (p.Arg1142=) | |
| 17 | g.63947061C>A | CA8709289 | SCN4A | c.3425G>T (p.Arg1142Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63947061C= | CA2270163767 | SCN4A | c.3425G= (p.Arg1142=) | |
| 17 | g.63947061C>G | CA400619325 | SCN4A | c.3425G>C (p.Arg1142Pro) | |
| 17 | g.63947061C>T | CA8709288 | SCN4A | c.3425G>A (p.Arg1142Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63947062G>A | CA292962490 | SCN4A | c.3424C>T (p.Arg1142Ter) | ClinVar dbSNP gnomAD v4 |
| 17 | g.63947062G>C | CA400619328 | SCN4A | c.3424C>G (p.Arg1142Gly) | gnomAD v4 |
| 17 | g.63947062G= | CA2270163768 | SCN4A | c.3424C= (p.Arg1142=) | |
| 17 | g.63947062G>T | CA501219655 | SCN4A | c.3424C>A (p.Arg1142=) | |
| 17 | g.63947063G>A | CA501219664 | SCN4A | c.3423C>T (p.Ser1141=) | |
| 17 | g.63947063G>C | CA501219663 | SCN4A | c.3423C>G (p.Ser1141=) | |
| 17 | g.63947063G>T | CA501219659 | SCN4A | c.3423C>A (p.Ser1141=) | |
| 17 | g.63947064G>A | CA400619330 | SCN4A | c.3422C>T (p.Ser1141Phe) | |
| 17 | g.63947064G>C | CA400619332 | SCN4A | c.3422C>G (p.Ser1141Cys) | |
| 17 | g.63947064G>T | CA400619334 | SCN4A | c.3422C>A (p.Ser1141Tyr) | |
| 17 | g.63947065A>C | CA400619336 | SCN4A | c.3421T>G (p.Ser1141Ala) | |
| 17 | g.63947065A>G | CA400619338 | SCN4A | c.3421T>C (p.Ser1141Pro) | |
| 17 | g.63947065A>T | CA400619340 | SCN4A | c.3421T>A (p.Ser1141Thr) | |
| 17 | g.63947066C>A | CA501219678 | SCN4A | c.3420G>T (p.Leu1140=) | |
| 17 | g.63947066C= | CA2270163769 | SCN4A | c.3420G= (p.Leu1140=) | |
| 17 | g.63947066C>G | CA501219680 | SCN4A | c.3420G>C (p.Leu1140=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63947066C>T | CA501219683 | SCN4A | c.3420G>A (p.Leu1140=) | |
| 17 | g.63947067A>C | CA400619341 | SCN4A | c.3419T>G (p.Leu1140Arg) | |
| 17 | g.63947067A>G | CA400619342 | SCN4A | c.3419T>C (p.Leu1140Pro) | |
| 17 | g.63947067A>T | CA400619344 | SCN4A | c.3419T>A (p.Leu1140Gln) | |
| 17 | g.63947068G>A | CA501219692 | SCN4A | c.3418C>T (p.Leu1140=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63947068G>C | CA400619350 | SCN4A | c.3418C>G (p.Leu1140Val) | |
| 17 | g.63947068G= | CA2270163770 | SCN4A | c.3418C= (p.Leu1140=) | |
| 17 | g.63947068G>T | CA400619347 | SCN4A | c.3418C>A (p.Leu1140Met) | |
| 17 | g.63947069T>A | CA501219699 | SCN4A | c.3417A>T (p.Ala1139=) | |
| 17 | g.63947069T>C | CA501219701 | SCN4A | c.3417A>G (p.Ala1139=) | |
| 17 | g.63947069T>G | CA501219703 | SCN4A | c.3417A>C (p.Ala1139=) | |
| 17 | g.63947070G>A | CA400619351 | SCN4A | c.3416C>T (p.Ala1139Val) | dbSNP |
| 17 | g.63947070G>C | CA400619352 | SCN4A | c.3416C>G (p.Ala1139Gly) | |
| 17 | g.63947070G= | CA2270163771 | SCN4A | c.3416C= (p.Ala1139=) | |
| 17 | g.63947070G>T | CA400619353 | SCN4A | c.3416C>A (p.Ala1139Glu) | |
| 17 | g.63947074_63947091dup | CA2639315708 | SCN4A | c.3399_3416dup (p.Ala1139_Leu1140insLeuArgProLeuArgAla) | gnomAD v4 |
| 17 | g.63947071C>A | CA400619355 | SCN4A | c.3415G>T (p.Ala1139Ser) | |
| 17 | g.63947071C>G | CA400619357 | SCN4A | c.3415G>C (p.Ala1139Pro) | |
| 17 | g.63947071C>T | CA400619360 | SCN4A | c.3415G>A (p.Ala1139Thr) | gnomAD v4 COSMIC |
| 17 | g.63947073del | CA2639315719 | SCN4A | c.3415del (p.Ala1139HisfsTer8) | gnomAD v4 |
| 17 | g.63947072C>A | CA400619362 | SCN4A | c.3414G>T (p.Arg1138Ser) | |
| 17 | g.63947072C>G | CA400619363 | SCN4A | c.3414G>C (p.Arg1138Ser) | |
| 17 | g.63947072C>T | CA501219723 | SCN4A | c.3414G>A (p.Arg1138=) | |
| 17 | g.63947073C>A | CA400619365 | SCN4A | c.3413G>T (p.Arg1138Met) | COSMIC |
| 17 | g.63947073C>G | CA400619367 | SCN4A | c.3413G>C (p.Arg1138Thr) | |
| 17 | g.63947073C>T | CA400619369 | SCN4A | c.3413G>A (p.Arg1138Lys) | |
| 17 | g.63947074T>A | CA400619371 | SCN4A | c.3412A>T (p.Arg1138Trp) | |
| 17 | g.63947074T>C | CA400619372 | SCN4A | c.3412A>G (p.Arg1138Gly) | |
| 17 | g.63947074T>G | CA501219733 | SCN4A | c.3412A>C (p.Arg1138=) | |
| 17 | g.63947074T= | CA2270163772 | SCN4A | c.3412A= (p.Arg1138=) | |
| 17 | g.63947075C>A | CA501219739 | SCN4A | c.3411G>T (p.Leu1137=) | |
| 17 | g.63947075C>G | CA501219741 | SCN4A | c.3411G>C (p.Leu1137=) | |
| 17 | g.63947075C>T | CA501219743 | SCN4A | c.3411G>A (p.Leu1137=) | |
| 17 | g.63947078_63947095dup | CA919876810 | SCN4A | c.3394_3411dup (p.Leu1137_Arg1138insArgAlaLeuArgProLeu) | dbSNP |
| 17 | g.63947076A>C | CA400619373 | SCN4A | c.3410T>G (p.Leu1137Arg) | |
| 17 | g.63947076A>G | CA400619377 | SCN4A | c.3410T>C (p.Leu1137Pro) | |
| 17 | g.63947076A>T | CA400619375 | SCN4A | c.3410T>A (p.Leu1137Gln) | |
| 17 | g.63947077G>A | CA501219751 | SCN4A | c.3409C>T (p.Leu1137=) | |
| 17 | g.63947077G>C | CA400619380 | SCN4A | c.3409C>G (p.Leu1137Val) | |
| 17 | g.63947077G>T | CA400619382 | SCN4A | c.3409C>A (p.Leu1137Met) | |
| 17 | g.63947078G>A | CA501219756 | SCN4A | c.3408C>T (p.Pro1136=) | gnomAD v4 |
| 17 | g.63947078G>C | CA501219757 | SCN4A | c.3408C>G (p.Pro1136=) | |
| 17 | g.63947078G>T | CA501219759 | SCN4A | c.3408C>A (p.Pro1136=) | |
| 17 | g.63947079G>A | CA400619383 | SCN4A | c.3407C>T (p.Pro1136Leu) | COSMIC |
| 17 | g.63947079G>C | CA400619384 | SCN4A | c.3407C>G (p.Pro1136Arg) | |
| 17 | g.63947079G>T | CA400619385 | SCN4A | c.3407C>A (p.Pro1136His) | |
| 17 | g.63947080G>A | CA400619386 | SCN4A | c.3406C>T (p.Pro1136Ser) | |
| 17 | g.63947080G>C | CA400619388 | SCN4A | c.3406C>G (p.Pro1136Ala) | |
| 17 | g.63947080G>T | CA400619389 | SCN4A | c.3406C>A (p.Pro1136Thr) | gnomAD v4 |
| 17 | g.63947081A= | CA2270163773 | SCN4A | c.3405T= (p.Arg1135=) | |
| 17 | g.63947081A>C | CA501219773 | SCN4A | c.3405T>G (p.Arg1135=) | |
| 17 | g.63947081A>G | CA501219775 | SCN4A | c.3405T>C (p.Arg1135=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63947081A>T | CA501219778 | SCN4A | c.3405T>A (p.Arg1135=) | |
| 17 | g.63947082C>A | CA400619391 | SCN4A | c.3404G>T (p.Arg1135Leu) | |
| 17 | g.63947082C= | CA2270163774 | SCN4A | c.3404G= (p.Arg1135=) | |
| 17 | g.63947082C>G | CA400619393 | SCN4A | c.3404G>C (p.Arg1135Pro) | ClinVar |
| 17 | g.63947082C>T | CA345720 | SCN4A | c.3404G>A (p.Arg1135His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.63947083G>A | CA400619401 | SCN4A | c.3403C>T (p.Arg1135Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63947083G>C | CA400619399 | SCN4A | c.3403C>G (p.Arg1135Gly) | |
| 17 | g.63947083G= | CA2270163775 | SCN4A | c.3403C= (p.Arg1135=) | |
| 17 | g.63947083G>T | CA400619397 | SCN4A | c.3403C>A (p.Arg1135Ser) | ClinVar dbSNP COSMIC |
| 17 | g.63947084C>A | CA8709290 | SCN4A | c.3402G>T (p.Leu1134=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63947084C= | CA2270163776 | SCN4A | c.3402G= (p.Leu1134=) | |
| 17 | g.63947084C>G | CA501219791 | SCN4A | c.3402G>C (p.Leu1134=) | COSMIC |
| 17 | g.63947084C>T | CA501219787 | SCN4A | c.3402G>A (p.Leu1134=) | ClinVar |
| 17 | g.63947085A= | CA2270163777 | SCN4A | c.3401T= (p.Leu1134=) | |
| 17 | g.63947085A>C | CA400619406 | SCN4A | c.3401T>G (p.Leu1134Arg) | |
| 17 | g.63947085A>G | CA400619407 | SCN4A | c.3401T>C (p.Leu1134Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63947085A>T | CA400619410 | SCN4A | c.3401T>A (p.Leu1134Gln) | |
| 17 | g.63947086G>A | CA501219810 | SCN4A | c.3400C>T (p.Leu1134=) | COSMIC |
| 17 | g.63947086G>C | CA400619413 | SCN4A | c.3400C>G (p.Leu1134Val) | |
| 17 | g.63947086G>T | CA400619416 | SCN4A | c.3400C>A (p.Leu1134Met) | COSMIC |
| 17 | g.63947087G>A | CA501219814 | SCN4A | c.3399C>T (p.Ala1133=) | |
| 17 | g.63947087G>C | CA501219813 | SCN4A | c.3399C>G (p.Ala1133=) | gnomAD v4 |
| 17 | g.63947087G>T | CA501219812 | SCN4A | c.3399C>A (p.Ala1133=) | |
| 17 | g.63947088G>A | CA400619421 | SCN4A | c.3398C>T (p.Ala1133Val) | ClinVar |
| 17 | g.63947088G>C | CA400619430 | SCN4A | c.3398C>G (p.Ala1133Gly) | |
| 17 | g.63947088G>T | CA400619435 | SCN4A | c.3398C>A (p.Ala1133Asp) | |
| 17 | g.63947089C>A | CA400619439 | SCN4A | c.3397G>T (p.Ala1133Ser) | |
| 17 | g.63947089C>G | CA400619442 | SCN4A | c.3397G>C (p.Ala1133Pro) | |
| 17 | g.63947089C>T | CA400619447 | SCN4A | c.3397G>A (p.Ala1133Thr) | |
| 17 | g.63947091del | CA2580094600 | SCN4A | c.3397del (p.Ala1133ProfsTer5) | ClinVar |
| 17 | g.63947090C>A | CA501219822 | SCN4A | c.3396G>T (p.Arg1132=) | dbSNP |
| 17 | g.63947090C= | CA2270163778 | SCN4A | c.3396G= (p.Arg1132=) | |
| 17 | g.63947090C>G | CA501219827 | SCN4A | c.3396G>C (p.Arg1132=) | |
| 17 | g.63947090C>T | CA501219825 | SCN4A | c.3396G>A (p.Arg1132=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63947091C>A | CA400619457 | SCN4A | c.3395G>T (p.Arg1132Leu) | |
| 17 | g.63947091C= | CA2270163779 | SCN4A | c.3395G= (p.Arg1132=) | |
| 17 | g.63947091C>G | CA400619454 | SCN4A | c.3395G>C (p.Arg1132Pro) | |
| 17 | g.63947091C>T | CA263213 | SCN4A | c.3395G>A (p.Arg1132Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63947092G>A | CA8709291 | SCN4A | c.3394C>T (p.Arg1132Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63947092G>C | CA400619461 | SCN4A | c.3394C>G (p.Arg1132Gly) | ClinVar dbSNP |
| 17 | g.63947092G= | CA2270163780 | SCN4A | c.3394C= (p.Arg1132=) | |
| 17 | g.63947092G>T | CA501219837 | SCN4A | c.3394C>A (p.Arg1132=) | ClinVar dbSNP gnomAD v2 |
| 17 | g.63947093C>A | CA501219841 | SCN4A | c.3393G>T (p.Leu1131=) | |
| 17 | g.63947093C>G | CA501219844 | SCN4A | c.3393G>C (p.Leu1131=) | |
| 17 | g.63947093C>T | CA501219845 | SCN4A | c.3393G>A (p.Leu1131=) | |
| 17 | g.63947094A= | CA2270163781 | SCN4A | c.3392T= (p.Leu1131=) | |
| 17 | g.63947094A>C | CA400619466 | SCN4A | c.3392T>G (p.Leu1131Arg) | ClinVar gnomAD v4 |
| 17 | g.63947094A>G | CA8709292 | SCN4A | c.3392T>C (p.Leu1131Pro) | dbSNP ExAC gnomAD v2 |
| 17 | g.63947094A>T | CA400619470 | SCN4A | c.3392T>A (p.Leu1131Gln) | |
| 17 | g.63947095G>A | CA501219850 | SCN4A | c.3391C>T (p.Leu1131=) | |
| 17 | g.63947095G>C | CA400619473 | SCN4A | c.3391C>G (p.Leu1131Val) | |
| 17 | g.63947095G= | CA2270163782 | SCN4A | c.3391C= (p.Leu1131=) | |
| 17 | g.63947095G>T | CA8709293 | SCN4A | c.3391C>A (p.Leu1131Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63947096T>A | CA501219857 | SCN4A | c.3390A>T (p.Thr1130=) | |
| 17 | g.63947096T>C | CA8709294 | SCN4A | c.3390A>G (p.Thr1130=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63947096T>G | CA501219862 | SCN4A | c.3390A>C (p.Thr1130=) | gnomAD v4 |
| 17 | g.63947096T= | CA2270163783 | SCN4A | c.3390A= (p.Thr1130=) | |
| 17 | g.63947097G>A | CA400619480 | SCN4A | c.3389C>T (p.Thr1130Ile) | |
| 17 | g.63947097G>C | CA400619483 | SCN4A | c.3389C>G (p.Thr1130Arg) | |
| 17 | g.63947097G>T | CA400619487 | SCN4A | c.3389C>A (p.Thr1130Lys) | |
| 17 | g.63947098T>A | CA400619491 | SCN4A | c.3388A>T (p.Thr1130Ser) | |
| 17 | g.63947098T>C | CA400619494 | SCN4A | c.3388A>G (p.Thr1130Ala) | |
| 17 | g.63947098T>G | CA400619496 | SCN4A | c.3388A>C (p.Thr1130Pro) | |
| 17 | g.63947099C>A | CA501219874 | SCN4A | c.3387G>T (p.Arg1129=) | |
| 17 | g.63947099C>G | CA501219877 | SCN4A | c.3387G>C (p.Arg1129=) | |
| 17 | g.63947099C>T | CA501219879 | SCN4A | c.3387G>A (p.Arg1129=) | COSMIC |
| 17 | g.63947100C>A | CA400620459 | SCN4A | c.3386G>T (p.Arg1129Leu) | |
| 17 | g.63947100C= | CA2270163784 | SCN4A | c.3386G= (p.Arg1129=) | |
| 17 | g.63947100C>G | CA292962517 | SCN4A | c.3386G>C (p.Arg1129Pro) | ClinVar dbSNP |
| 17 | g.63947100C>T | CA345719 | SCN4A | c.3386G>A (p.Arg1129Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63947101G>A | CA8709295 | SCN4A | c.3385C>T (p.Arg1129Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.63947101G>C | CA400620464 | SCN4A | c.3385C>G (p.Arg1129Gly) | |
| 17 | g.63947101G= | CA2270163785 | SCN4A | c.3385C= (p.Arg1129=) | |
| 17 | g.63947101G>T | CA501220230 | SCN4A | c.3385C>A (p.Arg1129=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63947102C>A | CA501220232 | SCN4A | c.3384G>T (p.Leu1128=) | |
| 17 | g.63947102C>G | CA501220234 | SCN4A | c.3384G>C (p.Leu1128=) | |
| 17 | g.63947102C>T | CA501220236 | SCN4A | c.3384G>A (p.Leu1128=) | |
| 17 | g.63947103A>C | CA400620470 | SCN4A | c.3383T>G (p.Leu1128Arg) | |
| 17 | g.63947103A>G | CA400620474 | SCN4A | c.3383T>C (p.Leu1128Pro) | gnomAD v4 |
| 17 | g.63947103A>T | CA400620476 | SCN4A | c.3383T>A (p.Leu1128Gln) | |
| 17 | g.63947104G>A | CA501220237 | SCN4A | c.3382C>T (p.Leu1128=) | |
| 17 | g.63947104G>C | CA400620480 | SCN4A | c.3382C>G (p.Leu1128Val) | |
| 17 | g.63947104G>T | CA400620482 | SCN4A | c.3382C>A (p.Leu1128Met) | |
| 17 | g.63947105G>A | CA501220239 | SCN4A | c.3381C>T (p.Ser1127=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63947105G>C | CA501220240 | SCN4A | c.3381C>G (p.Ser1127=) | |
| 17 | g.63947105G= | CA2270163786 | SCN4A | c.3381C= (p.Ser1127=) | |
| 17 | g.63947105G>T | CA501220238 | SCN4A | c.3381C>A (p.Ser1127=) | |
| 17 | g.63947106G>A | CA400620484 | SCN4A | c.3380C>T (p.Ser1127Phe) | gnomAD v4 |
| 17 | g.63947106G>C | CA400620487 | SCN4A | c.3380C>G (p.Ser1127Cys) | |
| 17 | g.63947106G>T | CA400620490 | SCN4A | c.3380C>A (p.Ser1127Tyr) | |
| 17 | g.63947107A>C | CA400620495 | SCN4A | c.3379T>G (p.Ser1127Ala) | |
| 17 | g.63947107A>G | CA400620498 | SCN4A | c.3379T>C (p.Ser1127Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63947107A>T | CA400620501 | SCN4A | c.3379T>A (p.Ser1127Thr) | gnomAD v4 |
| 17 | g.63947108T>A | CA400620506 | SCN4A | c.3378A>T (p.Lys1126Asn) | |
| 17 | g.63947108T>C | CA501220243 | SCN4A | c.3378A>G (p.Lys1126=) | |
| 17 | g.63947108T>G | CA400620508 | SCN4A | c.3378A>C (p.Lys1126Asn) | |
| 17 | g.63947110del | CA2576355668 | SCN4A | c.3378del (p.Lys1126AsnfsTer12) |