Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del | ClinVar |
17 | g.80104755C>A | CA401360382 | GAA | c.169C>A (p.Gln57Lys) | |
17 | g.80104755C= | CA2277810619 | GAA | c.169C= (p.Gln57=) | |
17 | g.80104755C>G | CA401360381 | GAA | c.169C>G (p.Gln57Glu) | gnomAD v3 gnomAD v4 |
17 | g.80104755C>T | CA16041879 | GAA | c.169C>T (p.Gln57Ter) | ClinVar dbSNP |
17 | g.80104756A= | CA2277810620 | GAA | c.170A= (p.Gln57=) | |
17 | g.80104756A>C | CA401360383 | GAA | c.170A>C (p.Gln57Pro) | |
17 | g.80104756A>G | CA401360385 | GAA | c.170A>G (p.Gln57Arg) | dbSNP |
17 | g.80104756A>T | CA401360384 | GAA | c.170A>T (p.Gln57Leu) | |
17 | g.80104757G>A | CA502177160 | GAA | c.171G>A (p.Gln57=) | |
17 | g.80104757G>C | CA401360386 | GAA | c.171G>C (p.Gln57His) | |
17 | g.80104757G>T | CA401360387 | GAA | c.171G>T (p.Gln57His) | |
17 | g.80104758C>A | CA401360388 | GAA | c.172C>A (p.Gln58Lys) | |
17 | g.80104758C= | CA2277810621 | GAA | c.172C= (p.Gln58=) | |
17 | g.80104758C>G | CA401360389 | GAA | c.172C>G (p.Gln58Glu) | |
17 | g.80104758C>T | CA274104 | GAA | c.172C>T (p.Gln58Ter) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.80104759A>C | CA401360390 | GAA | c.173A>C (p.Gln58Pro) | |
17 | g.80104759A>G | CA401360391 | GAA | c.173A>G (p.Gln58Arg) | |
17 | g.80104759A>T | CA401360392 | GAA | c.173A>T (p.Gln58Leu) | |
17 | g.80104760G>A | CA502177161 | GAA | c.174G>A (p.Gln58=) | gnomAD v4 |
17 | g.80104760G>C | CA294886669 | GAA | c.174G>C (p.Gln58His) | dbSNP |
17 | g.80104760G= | CA2277810622 | GAA | c.174G= (p.Gln58=) | |
17 | g.80104760G>T | CA401360393 | GAA | c.174G>T (p.Gln58His) | |
17 | g.80104761G>A | CA401360394 | GAA | c.175G>A (p.Gly59Arg) | |
17 | g.80104761G>C | CA8814802 | GAA | c.175G>C (p.Gly59Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104761G= | CA2277810623 | GAA | c.175G= (p.Gly59=) | |
17 | g.80104761G>T | CA401360395 | GAA | c.175G>T (p.Gly59Ter) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104762G>A | CA8814803 | GAA | c.176G>A (p.Gly59Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104762G>C | CA401360397 | GAA | c.176G>C (p.Gly59Ala) | |
17 | g.80104762G= | CA2277810624 | GAA | c.176G= (p.Gly59=) | |
17 | g.80104762G>T | CA401360396 | GAA | c.176G>T (p.Gly59Val) | |
17 | g.80104763A>C | CA502177162 | GAA | c.177A>C (p.Gly59=) | |
17 | g.80104763A>G | CA502177163 | GAA | c.177A>G (p.Gly59=) | |
17 | g.80104763A>T | CA502177164 | GAA | c.177A>T (p.Gly59=) | |
17 | g.80104764G>A | CA401360398 | GAA | c.178G>A (p.Ala60Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104764G>C | CA401360399 | GAA | c.178G>C (p.Ala60Pro) | |
17 | g.80104764G= | CA2277810625 | GAA | c.178G= (p.Ala60=) | |
17 | g.80104764G>T | CA401360400 | GAA | c.178G>T (p.Ala60Ser) | gnomAD v4 |
17 | g.80104765C>A | CA401360401 | GAA | c.179C>A (p.Ala60Asp) | dbSNP gnomAD v4 |
17 | g.80104765C= | CA2277810626 | GAA | c.179C= (p.Ala60=) | |
17 | g.80104765C>G | CA401360402 | GAA | c.179C>G (p.Ala60Gly) | gnomAD v4 |
17 | g.80104765C>T | CA401360403 | GAA | c.179C>T (p.Ala60Val) | |
17 | g.80104766C>A | CA502177165 | GAA | c.180C>A (p.Ala60=) | |
17 | g.80104766C= | CA2277810627 | GAA | c.180C= (p.Ala60=) | |
17 | g.80104766C>G | CA502177166 | GAA | c.180C>G (p.Ala60=) | ClinVar dbSNP gnomAD v4 |
17 | g.80104766C>T | CA502177167 | GAA | c.180C>T (p.Ala60=) | |
17 | g.80104767A>C | CA401360404 | GAA | c.181A>C (p.Ser61Arg) | |
17 | g.80104767A>G | CA401360405 | GAA | c.181A>G (p.Ser61Gly) | |
17 | g.80104767A>T | CA401360406 | GAA | c.181A>T (p.Ser61Cys) | |
17 | g.80104768G>A | CA401360409 | GAA | c.182G>A (p.Ser61Asn) |