| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del | ClinVar |
| 17 | g.80107716G>A | CA198776 | GAA | c.852G>A (p.Ala284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80107716G>C | CA502402718 | GAA | c.852G>C (p.Ala284=) | |
| 17 | g.80107716G= | CA2277812330 | GAA | c.852G= (p.Ala284=) | |
| 17 | g.80107716G>T | CA294889733 | GAA | c.852G>T (p.Ala284=) | dbSNP gnomAD v4 |
| 17 | g.80107717C>A | CA401363703 | GAA | c.853C>A (p.Pro285Thr) c.853C>A | |
| 17 | g.80107717C= | CA2277812331 | GAA | c.853C= (p.Pro285=) c.853C= | |
| 17 | g.80107717C>G | CA401363705 | GAA | c.853C>G (p.Pro285Ala) c.853C>G | |
| 17 | g.80107717C>T | CA10603793 | GAA | c.853C>T (p.Pro285Ser) c.853C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80107718C>A | CA401363708 | GAA | c.854C>A (p.Pro285His) c.854C>A | |
| 17 | g.80107718C= | CA2277812332 | GAA | c.854C= (p.Pro285=) c.854C= | |
| 17 | g.80107718C>G | CA358045 | GAA | c.854C>G (p.Pro285Arg) c.854C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80107718C>T | CA8815030 | GAA | c.854C>T (p.Pro285Leu) c.854C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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 |