| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80104170_80104729del | CA2697555214 | GAA | c.-32-385_143del | |
| 17 | g.80104604G>A | CA8814757 | GAA | c.18G>A (p.Pro6=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80104604G>C | CA502176895 | GAA | c.18G>C (p.Pro6=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80104604G= | CA2277810535 | GAA | c.18G= (p.Pro6=) | |
| 17 | g.80104604G>T | CA502176897 | GAA | c.18G>T (p.Pro6=) | |
| 17 | g.80104604_80104611del | CA658795221 | GAA | c.18_25del (p.Cys8ProfsTer24) | |
| 17 | g.80104605C>A | CA401359899 | GAA | c.19C>A (p.Pro7Thr) | dbSNP |
| 17 | g.80104605C= | CA2277810536 | GAA | c.19C= (p.Pro7=) | |
| 17 | g.80104605C>G | CA401359895 | GAA | c.19C>G (p.Pro7Ala) | |
| 17 | g.80104605C>T | CA401359897 | GAA | c.19C>T (p.Pro7Ser) | |
| 17 | g.80104606C>A | CA401359902 | GAA | c.20C>A (p.Pro7His) | |
| 17 | g.80104606C= | CA2277810537 | GAA | c.20C= (p.Pro7=) | |
| 17 | g.80104606C>G | CA401359904 | GAA | c.20C>G (p.Pro7Arg) | |
| 17 | g.80104606C>T | CA401359906 | GAA | c.20C>T (p.Pro7Leu) | dbSNP |
| 17 | g.80104607C>A | CA502176904 | GAA | c.21C>A (p.Pro7=) | |
| 17 | g.80104607C>G | CA502176906 | GAA | c.21C>G (p.Pro7=) | |
| 17 | g.80104607C>T | CA502176908 | GAA | c.21C>T (p.Pro7=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.80104608T>A | CA401359909 | GAA | c.22T>A (p.Cys8Ser) | |
| 17 | g.80104608T>C | CA401359912 | GAA | c.22T>C (p.Cys8Arg) | |
| 17 | g.80104608T>G | CA401359914 | GAA | c.22T>G (p.Cys8Gly) | |
| 17 | g.80104609G>A | CA8814758 | GAA | c.23G>A (p.Cys8Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80104609G>C | CA401359917 | GAA | c.23G>C (p.Cys8Ser) | |
| 17 | g.80104609G= | CA2277810538 | GAA | c.23G= (p.Cys8=) | |
| 17 | g.80104609G>T | CA401359919 | GAA | c.23G>T (p.Cys8Phe) | gnomAD v4 |
| 17 | g.80104610C>A | CA401359921 | GAA | c.24C>A (p.Cys8Ter) | |
| 17 | g.80104610C>G | CA401359924 | GAA | c.24C>G (p.Cys8Trp) | |
| 17 | g.80104610C>T | CA502176915 | GAA | c.24C>T (p.Cys8=) | ClinVar |
| 17 | g.80104611del | CA658795222 | GAA | c.25del (p.Ser9ProfsTer?) | |
| 17 | g.80104611T>A | CA401359930 | GAA | c.25T>A (p.Ser9Thr) | |
| 17 | g.80104611T>C | CA10604542 | GAA | c.25T>C (p.Ser9Pro) | ClinVar dbSNP |
| 17 | g.80104611T>G | CA401359927 | GAA | c.25T>G (p.Ser9Ala) | |
| 17 | g.80104611T= | CA2277810539 | GAA | c.25T= (p.Ser9=) | |
| 17 | g.80104612C>A | CA401359933 | GAA | c.26C>A (p.Ser9Tyr) | gnomAD v4 |
| 17 | g.80104612C= | CA2277810540 | GAA | c.26C= (p.Ser9=) | |
| 17 | g.80104612C>G | CA401359938 | GAA | c.26C>G (p.Ser9Cys) | ClinVar dbSNP |
| 17 | g.80104612C>T | CA401359935 | GAA | c.26C>T (p.Ser9Phe) | ClinVar dbSNP |
| 17 | g.80104613C>A | CA502176921 | GAA | c.27C>A (p.Ser9=) | |
| 17 | g.80104613C= | CA2277810541 | GAA | c.27C= (p.Ser9=) | |
| 17 | g.80104613C>G | CA502176925 | GAA | c.27C>G (p.Ser9=) | |
| 17 | g.80104613C>T | CA502176923 | GAA | c.27C>T (p.Ser9=) | dbSNP |
| 17 | g.80104614C>A | CA401359940 | GAA | c.28C>A (p.His10Asn) | |
| 17 | g.80104614C= | CA2277810542 | GAA | c.28C= (p.His10=) | |
| 17 | g.80104614C>G | CA401359942 | GAA | c.28C>G (p.His10Asp) | |
| 17 | g.80104614C>T | CA401359943 | GAA | c.28C>T (p.His10Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80104615del | CA2573054599 | GAA | c.29del (p.His10ProfsTer?) | dbSNP |
| 17 | g.80104615A>C | CA401359946 | GAA | c.29A>C (p.His10Pro) | |
| 17 | g.80104615A>G | CA401359948 | GAA | c.29A>G (p.His10Arg) | dbSNP gnomAD v4 |
| 17 | g.80104615A>T | CA401359950 | GAA | c.29A>T (p.His10Leu) | gnomAD v4 |
| 17 | g.80104616C>A | CA401359953 | GAA | c.30C>A (p.His10Gln) | |
| 17 | g.80104616C= | CA2277810543 | GAA | c.30C= (p.His10=) |