17 | g.63947000G>A | CA8709270 | SCN4A | c.3441+45C>T (n.3441+45C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63947000G>C | CA2639313395 | SCN4A | c.3441+45C>G (n.3441+45C>G)
| gnomAD v4 |
17 | g.63947000G= | CA2270163727 | SCN4A | c.3441+45C= (n.3441+45C=)
| |
17 | g.63947000G>T | CA2576355655 | SCN4A | c.3441+45C>A (n.3441+45C>A)
| gnomAD v4 |
17 | g.63947001G>A | CA2639313396 | SCN4A | c.3441+44C>T (n.3441+44C>T)
| gnomAD v4 |
17 | g.63947001G>T | CA2576355656 | SCN4A | c.3441+44C>A (n.3441+44C>A)
| gnomAD v4 |
17 | g.63947002T>C | CA2639313399 | SCN4A | c.3441+43A>G (n.3441+43A>G)
| gnomAD v4 |
17 | g.63947002T= | CA2270163728 | SCN4A | c.3441+43A= (n.3441+43A=)
| |
17 | g.63947003C>A | CA2639313904 | SCN4A | c.3441+42G>T (n.3441+42G>T)
| gnomAD v4 |
17 | g.63947003C>T | CA2639313903 | SCN4A | c.3441+42G>A (n.3441+42G>A)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCC | CA2639314099 | SCN4A | c.3441+42_3441+43insGGGTTGGGGGG (n.3441+42_3441+43insGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCACCCCCCCCC | CA2639314011 | SCN4A | c.3441+42_3441+43insGGGGTGGGGGG (n.3441+42_3441+43insGGGGTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCC | CA2639314441 | SCN4A | c.3441+42_3441+43insGGGGTTGGGGGG (n.3441+42_3441+43insGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCACCCCCCCCCC | CA2639313900 | SCN4A | c.3441+42_3441+43insGGGGGTGGGGGG (n.3441+42_3441+43insGGGGGTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCC | CA2639314465 | SCN4A | c.3441+42_3441+43insGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCC | CA2639314469 | SCN4A | c.3441+42_3441+43insGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCACCCCCCCCCC | CA2639314090 | SCN4A | c.3441+42_3441+43insGGGGGTGGGTTGGGGGG (n.3441+42_3441+43insGGGGGTGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCACCCCACCCCCCCCCC | CA2639314008 | SCN4A | c.3441+42_3441+43insGGGGGTGGGGTGGGGGG (n.3441+42_3441+43insGGGGGTGGGGTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCACCCCCCCCCC | CA2639314290 | SCN4A | c.3441+42_3441+43insGGGGGTGGGGTTGGGGGG (n.3441+42_3441+43insGGGGGTGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCC | CA2639314486 | SCN4A | c.3441+42_3441+43insGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCACCCCCCCCCCCCCCCC | CA2639313995 | SCN4A | c.3441+42_3441+43insGGGGGGGGGGGTGGGGGG (n.3441+42_3441+43insGGGGGGGGGGGTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCTACCCCCCCCCCCCCCC | CA2639313958 | SCN4A | c.3441+42_3441+43insGGGGGGGGGGTAGGGGGG (n.3441+42_3441+43insGGGGGGGGGGTAGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCC | CA2639314496 | SCN4A | c.3441+42_3441+43insGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCACCCCCCCCCCCCC | CA2639314445 | SCN4A | c.3441+42_3441+43insGGGGGGGGTGGGGTTGGGGGG (n.3441+42_3441+43insGGGGGGGGTGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCCCC | CA2639314500 | SCN4A | c.3441+42_3441+43insGGGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCACCCCCCCCCC | CA2639314477 | SCN4A | c.3441+42_3441+43insGGGGGTGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGGTGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCCCCCC | CA2639314505 | SCN4A | c.3441+42_3441+43insGGGGGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCACCCCCCCCCCCC | CA2639314538 | SCN4A | c.3441+42_3441+43insGGGGGGGTGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGGGGTGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCACCCCCC | CA2639314394 | SCN4A | c.3441+42_3441+43insGTGGGGGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGTGGGGGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCCAGGCCCCC | CA2639314053 | SCN4A | c.3441+42_3441+43insCCTGGGGGGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insCCTGGGGGGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCTCCCCCCCCCCCCCCCCAGGGCCCCC | CA2639313924 | SCN4A | c.3441+42_3441+43insCCCTGGGGGGGGGGGGGGGGAGGGGGG (n.3441+42_3441+43insCCCTGGGGGGGGGGGGGGGGAGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCACCCCCCCCCC | CA2639314381 | SCN4A | c.3441+42_3441+43insGGGGGTGGGGGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGGTGGGGGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCAGGGCCCCCCC | CA2639313723 | SCN4A | c.3441+42_3441+43insGGCCCTGGGGGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGCCCTGGGGGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCAGCCCCCCCCCCCC | CA2639314350 | SCN4A | c.3441+42_3441+43insGGGGGGGCTGGGGGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGGGGCTGGGGGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCCAGCCCCCCCCCCCC | CA2639314057 | SCN4A | c.3441+42_3441+43insGGGGGGGCTGGGGGGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGGGGCTGGGGGGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCAGGCCCCCTCACCACCCCCCCCC | CA2639313840 | SCN4A | c.3441+42_3441+43insGGGGTGGTGAGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGTGGTGAGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCACGGCCCCAGACCACCCCCCCCC | CA2639314376 | SCN4A | c.3441+42_3441+43insGGGGTGGTCTGGGGCCGTGGGGGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGTGGTCTGGGGCCGTGGGGGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCAGGCCCCCACAACACCCCCCCCC | CA2639313891 | SCN4A | c.3441+42_3441+43insGGGGTGTTGTGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGTGTTGTGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCAGGGCCCCTGAACACCCCCCCCC | CA2639313819 | SCN4A | c.3441+42_3441+43insGGGGTGTTCAGGGGCCCTGGGGGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGTGTTCAGGGGCCCTGGGGGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCCGGCCCCCTGAGCACCCCCCCCC | CA2639314016 | SCN4A | c.3441+42_3441+43insGGGGTGCTCAGGGGGCCGGGGGGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGTGCTCAGGGGGCCGGGGGGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCAGGCCCCCAAACCCCCCCCCCCC | CA2639314296 | SCN4A | c.3441+42_3441+43insGGGGGGGTTTGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGGGGTTTGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCAGGCCCCCTCAGCACCCCCCCCC | CA2639313826 | SCN4A | c.3441+42_3441+43insGGGGTGCTGAGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGTGCTGAGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCAGGCCCCCTCAACCCCCCCCCCC | CA2639313841 | SCN4A | c.3441+42_3441+43insGGGGGGTTGAGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGGGTTGAGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCAGGCCCCACACCACCCCCCCCCC | CA2639314331 | SCN4A | c.3441+42_3441+43insGGGGGTGGTGTGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGGTGGTGTGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCCCGCCCCCTAACCACCCCCCCCCC | CA2639314039 | SCN4A | c.3441+42_3441+43insGGGGGTGGTTAGGGGGCGGGGGGGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGGTGGTTAGGGGGCGGGGGGGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCCCGGCCCCAAAACCCCCCCCCCCC | CA2639314036 | SCN4A | c.3441+42_3441+43insGGGGGGGTTTTGGGGCCGGGGGGGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGGGGTTTTGGGGCCGGGGGGGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCACCCCCCCCCCCCCCCCCGGGCCCCAGACCCCCCCCCCCCC | CA2639313963 | SCN4A | c.3441+42_3441+43insGGGGGGGGTCTGGGGCCCGGGGGGGGGGGGGGGGGTGGGGGG (n.3441+42_3441+43insGGGGGGGGTCTGGGGCCCGGGGGGGGGGGGGGGGGTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCAGGCCCCCGAACCCCCCCCCCCCC | CA2639313853 | SCN4A | c.3441+42_3441+43insGGGGGGGGTTCGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGGGGGTTCGGGGGCCTGGGGGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCAACCCCCCCCCCCCCCCAGTGCCCCAAAACAACCCCCCCCC | CA2639314073 | SCN4A | c.3441+42_3441+43insGGGGTTGTTTTGGGGCACTGGGGGGGGGGGGGGGTTGGGGGG (n.3441+42_3441+43insGGGGTTGTTTTGGGGCACTGGGGGGGGGGGGGGGTTGGGGGG)
| gnomAD v4 |
17 | g.63947007_63947008insCTACCCCCCCCCCCCCCCCTGGCCCCTAACCCCCCCCCCCCC | CA2639313952 | SCN4A | c.3441+42_3441+43insGGGGGGGGTTAGGGGCCAGGGGGGGGGGGGGGGGTAGGGGGG (n.3441+42_3441+43insGGGGGGGGTTAGGGGCCAGGGGGGGGGGGGGGGGTAGGGGGG)
| gnomAD v4 |