17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del
| ClinVar |
17 | g.80107719C>A | CA8815031 | GAA | c.855C>A (p.Pro285=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107719C= | CA2277812333 | GAA | c.855C= (p.Pro285=)
| |
17 | g.80107719C>G | CA502402719 | GAA | c.855C>G (p.Pro285=)
| |
17 | g.80107719C>T | CA502402720 | GAA | c.855C>T (p.Pro285=)
| gnomAD v4 |
17 | g.80107720del | CA2739268463 | GAA | c.856del (p.Thr286ArgfsTer28)
| ClinVar |
17 | g.80107720A>C | CA401363717 | GAA | c.856A>C (p.Thr286Pro)
| |
17 | g.80107720A>G | CA401363715 | GAA | c.856A>G (p.Thr286Ala)
| |
17 | g.80107720A>T | CA401363713 | GAA | c.856A>T (p.Thr286Ser)
| |
17 | g.80107721C>A | CA401363719 | GAA | c.857C>A (p.Thr286Lys)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107721C= | CA2277812334 | GAA | c.857C= (p.Thr286=)
| |
17 | g.80107721C>G | CA401363722 | GAA | c.857C>G (p.Thr286Arg)
| |
17 | g.80107721C>T | CA8815032 | GAA | c.857C>T (p.Thr286Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107722G>A | CA294889742 | GAA | c.858G>A (p.Thr286=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107722G>C | CA502402721 | GAA | c.858G>C (p.Thr286=)
| |
17 | g.80107722G= | CA2277812335 | GAA | c.858G= (p.Thr286=)
| |
17 | g.80107722G>T | CA502402722 | GAA | c.858G>T (p.Thr286=)
| |
17 | g.80107723del | CA2640279897 | GAA | c.858+1del
| gnomAD v4 |
17 | g.80107723G>A | CA401363726 | GAA | c.858+1G>A (n.858+1G>A)
| ClinVar |
17 | g.80107723G>C | CA401363727 | GAA | c.858+1G>C (n.858+1G>C)
| |
17 | g.80107723G= | CA2277812336 | GAA | c.858+1G= (n.858+1G=)
| |
17 | g.80107723G>T | CA401363729 | GAA | c.858+1G>T (n.858+1G>T)
| gnomAD v4 |
17 | g.80107723_80107724insAGCGGGC | CA294889744 | GAA | c.858+1_858+2insAGCGGGC (n.858+1_858+2insAGCGGGC)
| dbSNP |
17 | g.80107724T>A | CA401363732 | GAA | c.858+2T>A (n.858+2T>A)
| ClinVar dbSNP |
17 | g.80107724T>C | CA401363734 | GAA | c.858+2T>C (n.858+2T>C)
| |
17 | g.80107724T>G | CA401363736 | GAA | c.858+2T>G (n.858+2T>G)
| |
17 | g.80107724T= | CA2277812337 | GAA | c.858+2T= (n.858+2T=)
| |
17 | g.80107725A= | CA2277812338 | GAA | c.858+3A= (n.858+3A=)
| |
17 | g.80107725_80107726insGAG | CA8815033 | GAA | c.858+3_858+4insGAG (n.858+3_858+4insGAG)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107726C= | CA2277812339 | GAA | c.858+4C= (n.858+4C=)
| |
17 | g.80107726C>G | CA10604590 | GAA | c.858+4C>G (n.858+4C>G)
| ClinVar dbSNP |
17 | g.80107727A= | CA2277812341 | GAA | c.858+5A= (n.858+5A=)
| |
17 | g.80107727A>G | CA2277812342 | GAA | c.858+5A>G (n.858+5A>G)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107729_80107730insAGCGAGC | CA2734096656 | GAA | c.858+7_858+8insAGCGAGC (n.858+7_858+8insAGCGAGC)
| dbSNP |
17 | g.80107727_80107733delinsAGCGGCG | CA2277812340 | GAA | c.858+5_858+11delinsAGCGGCG (n.858+5_858+11delinsAGCGGCG)
| |
17 | g.80107727_80107733dup | CA2277812344 | GAA | c.858+5_858+11dup (n.858+5_858+11dup)
| ClinVar dbSNP |
17 | g.80107727_80107734delinsAGCGGCGG | CA2277812343 | GAA | c.858+5_858+12delinsAGCGGCGG (n.858+5_858+12delinsAGCGGCGG)
| |
17 | g.80107727_80107728insACAGCGG | CA2640279962 | GAA | c.858+5_858+6insACAGCGG (n.858+5_858+6insACAGCGG)
| gnomAD v4 |
17 | g.80107728G>A | CA658795240 | GAA | c.858+6G>A (n.858+6G>A)
| |
17 | g.80107728G= | CA2277812345 | GAA | c.858+6G= (n.858+6G=)
| |
17 | g.80107728G>T | CA8815039 | GAA | c.858+6G>T (n.858+6G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107728_80107729insGCAGCGG | CA294889789 | GAA | c.858+6_858+7insGCAGCGG (n.858+6_858+7insGCAGCGG)
| dbSNP |
17 | g.80107728_80107729insTAGCGGG | CA2576413981 | GAA | c.858+6_858+7insTAGCGGG (n.858+6_858+7insTAGCGGG)
| |
17 | g.80107729_80107730insAATGGGC | CA2640279941 | GAA | c.858+7_858+8insAATGGGC (n.858+7_858+8insAATGGGC)
| gnomAD v4 |
17 | g.80107729_80107730insACCGGGC | CA2499225003 | GAA | c.858+7_858+8insACCGGGC (n.858+7_858+8insACCGGGC)
| ClinVar dbSNP |
17 | g.80107729_80107730insAGCAGGC | CA8815037 | GAA | c.858+7_858+8insAGCAGGC (n.858+7_858+8insAGCAGGC)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107729_80107730insAGCGGGC | CA145794 | GAA | c.858+7_858+8insAGCGGGC (n.858+7_858+8insAGCGGGC)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107729_80107730insAGTGGGC | CA8815036 | GAA | c.858+7_858+8insAGTGGGC (n.858+7_858+8insAGTGGGC)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107729_80107730insAGCGGGCAGCGGGC | CA2580095280 | GAA | c.858+7_858+8insAGCGGGCAGCGGGC (n.858+7_858+8insAGCGGGCAGCGGGC)
| ClinVar |
17 | g.80107729_80107730insAGCGGGCGGCGGGC | CA8815035 | GAA | c.858+7_858+8insAGCGGGCGGCGGGC (n.858+7_858+8insAGCGGGCGGCGGGC)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |