| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.56606604G>A | CA3869287 | DST | c.4650+3823C>T (n.4650+3823C>T) c.5184+3823C>T (n.5184+3823C>T) c.4770+3823C>T (n.4770+3823C>T) c.4998+3823C>T (n.4998+3823C>T) c.8024C>T (p.Pro2675Leu) c.3672+3823C>T (n.3672+3823C>T) c.7391C>T (p.Pro2464Leu) c.6413C>T (p.Pro2138Leu) c.7925C>T (p.Pro2642Leu) c.7739C>T (p.Pro2580Leu) c.7610C>T (p.Pro2537Leu) c.7511C>T (p.Pro2504Leu) c.7490C>T (p.Pro2497Leu) c.7469C>T (p.Pro2490Leu) c.7952C>T (p.Pro2651Leu) c.5211+3823C>T (n.5211+3823C>T) c.8051C>T (p.Pro2684Leu) c.7988C>T (p.Pro2663Leu) c.7427C>T (p.Pro2476Leu) c.2618C>T (p.Pro873Leu) c.5310+3823C>T (n.5310+3823C>T) c.7370C>T (p.Pro2457Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.56606604G= | CA1630170919 | DST | c.4650+3823C= (n.4650+3823C=) c.5184+3823C= (n.5184+3823C=) c.4770+3823C= (n.4770+3823C=) c.4998+3823C= (n.4998+3823C=) c.8024C= (p.Pro2675=) c.3672+3823C= (n.3672+3823C=) c.7391C= (p.Pro2464=) c.6413C= (p.Pro2138=) c.7925C= (p.Pro2642=) c.7739C= (p.Pro2580=) c.7610C= (p.Pro2537=) c.7511C= (p.Pro2504=) c.7490C= (p.Pro2497=) c.7469C= (p.Pro2490=) c.7952C= (p.Pro2651=) c.5211+3823C= (n.5211+3823C=) c.8051C= (p.Pro2684=) c.7988C= (p.Pro2663=) c.7427C= (p.Pro2476=) c.2618C= (p.Pro873=) c.5310+3823C= (n.5310+3823C=) c.7370C= (p.Pro2457=) | dbSNP |