Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.8003643G>A | CA397944404 | GUCY2D | c.596G>A (p.Arg199His) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003643G>C | CA397944406 | GUCY2D | c.596G>C (p.Arg199Pro) | ClinVar dbSNP gnomAD v4 |
17 | g.8003643G= | CA2246053619 | GUCY2D | c.596G= (p.Arg199=) | |
17 | g.8003643G>T | CA397944409 | GUCY2D | c.596G>T (p.Arg199Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003644C>A | CA497953009 | GUCY2D | c.597C>A (p.Arg199=) | |
17 | g.8003644C>G | CA497953010 | GUCY2D | c.597C>G (p.Arg199=) | |
17 | g.8003644C>T | CA497953011 | GUCY2D | c.597C>T (p.Arg199=) | gnomAD v4 |
17 | g.8003645T>A | CA397944411 | GUCY2D | c.598T>A (p.Ser200Thr) | |
17 | g.8003645T>C | CA397944416 | GUCY2D | c.598T>C (p.Ser200Pro) | ClinVar gnomAD v4 |
17 | g.8003645T>G | CA397944414 | GUCY2D | c.598T>G (p.Ser200Ala) | |
17 | g.8003646C>A | CA397944418 | GUCY2D | c.599C>A (p.Ser200Ter) | gnomAD v4 |
17 | g.8003646C= | CA2246053622 | GUCY2D | c.599C= (p.Ser200=) | |
17 | g.8003646C>G | CA397944423 | GUCY2D | c.599C>G (p.Ser200Ter) | |
17 | g.8003646C>T | CA8365516 | GUCY2D | c.599C>T (p.Ser200Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8003647A>C | CA497953018 | GUCY2D | c.600A>C (p.Ser200=) | |
17 | g.8003647A>G | CA497953016 | GUCY2D | c.600A>G (p.Ser200=) | |
17 | g.8003647A>T | CA497953017 | GUCY2D | c.600A>T (p.Ser200=) | |
17 | g.8003648C>A | CA397944428 | GUCY2D | c.601C>A (p.Leu201Met) | |
17 | g.8003648C>G | CA397944430 | GUCY2D | c.601C>G (p.Leu201Val) | |
17 | g.8003648C>T | CA497953021 | GUCY2D | c.601C>T (p.Leu201=) | |
17 | g.8003649T>A | CA397944433 | GUCY2D | c.602T>A (p.Leu201Gln) | |
17 | g.8003649T>C | CA397944435 | GUCY2D | c.602T>C (p.Leu201Pro) | gnomAD v4 |
17 | g.8003649T>G | CA397944438 | GUCY2D | c.602T>G (p.Leu201Arg) | |
17 | g.8003650G>A | CA497953023 | GUCY2D | c.603G>A (p.Leu201=) | gnomAD v4 |
17 | g.8003650G>C | CA8365517 | GUCY2D | c.603G>C (p.Leu201=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003650G= | CA2246053625 | GUCY2D | c.603G= (p.Leu201=) | |
17 | g.8003650G>T | CA497953024 | GUCY2D | c.603G>T (p.Leu201=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.8003651T>A | CA397944443 | GUCY2D | c.604T>A (p.Ser202Thr) | |
17 | g.8003651T>C | CA397944445 | GUCY2D | c.604T>C (p.Ser202Pro) | |
17 | g.8003651T>G | CA397944447 | GUCY2D | c.604T>G (p.Ser202Ala) | |
17 | g.8003652C>A | CA397944451 | GUCY2D | c.605C>A (p.Ser202Tyr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.8003652C= | CA2246053628 | GUCY2D | c.605C= (p.Ser202=) | |
17 | g.8003652C>G | CA397944455 | GUCY2D | c.605C>G (p.Ser202Cys) | |
17 | g.8003652C>T | CA397944453 | GUCY2D | c.605C>T (p.Ser202Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003653C>A | CA497953032 | GUCY2D | c.606C>A (p.Ser202=) | gnomAD v4 |
17 | g.8003653C= | CA2246053630 | GUCY2D | c.606C= (p.Ser202=) | |
17 | g.8003653C>G | CA497953033 | GUCY2D | c.606C>G (p.Ser202=) | |
17 | g.8003653C>T | CA497953034 | GUCY2D | c.606C>T (p.Ser202=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003654A= | CA2246053632 | GUCY2D | c.607A= (p.Thr203=) | |
17 | g.8003654A>C | CA397944458 | GUCY2D | c.607A>C (p.Thr203Pro) | |
17 | g.8003654A>G | CA397944460 | GUCY2D | c.607A>G (p.Thr203Ala) | gnomAD v4 COSMIC |
17 | g.8003654A>T | CA397944462 | GUCY2D | c.607A>T (p.Thr203Ser) | ClinVar dbSNP |
17 | g.8003655C>A | CA397944465 | GUCY2D | c.608C>A (p.Thr203Lys) | gnomAD v4 |
17 | g.8003655C= | CA2246053633 | GUCY2D | c.608C= (p.Thr203=) | |
17 | g.8003655C>G | CA397944467 | GUCY2D | c.608C>G (p.Thr203Arg) | |
17 | g.8003655C>T | CA397944469 | GUCY2D | c.608C>T (p.Thr203Met) | ClinVar dbSNP gnomAD v4 |
17 | g.8003656G>A | CA8365518 | GUCY2D | c.609G>A (p.Thr203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003656G>C | CA497953038 | GUCY2D | c.609G>C (p.Thr203=) | |
17 | g.8003656G= | CA2246053635 | GUCY2D | c.609G= (p.Thr203=) | |
17 | g.8003656G>T | CA497953040 | GUCY2D | c.609G>T (p.Thr203=) | dbSNP gnomAD v4 |