| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.10658519T>A | CA408240006 | JAG1 | c.643A>T (p.Asn215Tyr) n.509A>T | |
| 20 | g.10658519T>C | CA408240005 | JAG1 | c.643A>G (p.Asn215Asp) n.509A>G | |
| 20 | g.10658519T>G | CA408240007 | JAG1 | c.643A>C (p.Asn215His) n.509A>C | |
| 20 | g.10658520C>A | CA408240008 | JAG1 | c.642G>T (p.Gln214His) n.508G>T | |
| 20 | g.10658520C>G | CA408240009 | JAG1 | c.642G>C (p.Gln214His) n.508G>C | |
| 20 | g.10658520C>T | CA509816399 | JAG1 | c.642G>A (p.Gln214=) n.508G>A | |
| 20 | g.10658521T>A | CA408240010 | JAG1 | c.641A>T (p.Gln214Leu) n.507A>T | |
| 20 | g.10658521T>C | CA408240012 | JAG1 | c.641A>G (p.Gln214Arg) n.507A>G | |
| 20 | g.10658521T>G | CA408240011 | JAG1 | c.641A>C (p.Gln214Pro) n.507A>C | COSMIC COSMIC |
| 20 | g.10658522G>A | CA408240013 | JAG1 | c.640C>T (p.Gln214Ter) n.506C>T | |
| 20 | g.10658522G>C | CA408240014 | JAG1 | c.640C>G (p.Gln214Glu) n.506C>G | |
| 20 | g.10658522G>T | CA408240015 | JAG1 | c.640C>A (p.Gln214Lys) n.506C>A | |
| 20 | g.10658523G>A | CA509816401 | JAG1 | c.639C>T (p.Asp213=) n.505C>T | |
| 20 | g.10658523G>C | CA408240016 | JAG1 | c.639C>G (p.Asp213Glu) n.505C>G | |
| 20 | g.10658523G>T | CA408240017 | JAG1 | c.639C>A (p.Asp213Glu) n.505C>A | |
| 20 | g.10658524T>A | CA408240018 | JAG1 | c.638A>T (p.Asp213Val) n.504A>T | |
| 20 | g.10658524T>C | CA408240019 | JAG1 | c.638A>G (p.Asp213Gly) n.504A>G | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10658524T>G | CA408240020 | JAG1 | c.638A>C (p.Asp213Ala) n.504A>C | |
| 20 | g.10658524T= | CA2349888395 | JAG1 | c.638A= (p.Asp213=) n.504A= | |
| 20 | g.10658525C>A | CA408240021 | JAG1 | c.637G>T (p.Asp213Tyr) n.503G>T | |
| 20 | g.10658525C>G | CA408240022 | JAG1 | c.637G>C (p.Asp213His) n.503G>C | |
| 20 | g.10658525C>T | CA408240023 | JAG1 | c.637G>A (p.Asp213Asn) n.503G>A | |
| 20 | g.10658526A= | CA2349888396 | JAG1 | c.636T= (p.Cys212=) n.502T= | |
| 20 | g.10658526A>C | CA408240025 | JAG1 | c.636T>G (p.Cys212Trp) n.502T>G | |
| 20 | g.10658526A>G | CA509816402 | JAG1 | c.636T>C (p.Cys212=) n.502T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10658526A>T | CA408240024 | JAG1 | c.636T>A (p.Cys212Ter) n.502T>A | |
| 20 | g.10658527C>A | CA408240026 | JAG1 | c.635G>T (p.Cys212Phe) n.501G>T | |
| 20 | g.10658527C>G | CA408240027 | JAG1 | c.635G>C (p.Cys212Ser) n.501G>C | ClinVar |
| 20 | g.10658527C>T | CA408240028 | JAG1 | c.635G>A (p.Cys212Tyr) n.501G>A | ClinVar |
| 20 | g.10658528A= | CA2349888397 | JAG1 | c.634T= (p.Cys212=) n.500T= | |
| 20 | g.10658528A>C | CA408240029 | JAG1 | c.634T>G (p.Cys212Gly) n.500T>G | |
| 20 | g.10658528A>G | CA408240030 | JAG1 | c.634T>C (p.Cys212Arg) n.500T>C | ClinVar dbSNP |
| 20 | g.10658528A>T | CA408240031 | JAG1 | c.634T>A (p.Cys212Ser) n.500T>A | |
| 20 | g.10658529G>A | CA509816403 | JAG1 | c.633C>T (p.Ala211=) n.499C>T | dbSNP |
| 20 | g.10658529G>C | CA509816404 | JAG1 | c.633C>G (p.Ala211=) n.499C>G | |
| 20 | g.10658529G= | CA2349888398 | JAG1 | c.633C= (p.Ala211=) n.499C= | |
| 20 | g.10658529G>T | CA509816405 | JAG1 | c.633C>A (p.Ala211=) n.499C>A | |
| 20 | g.10658530G>A | CA408240032 | JAG1 | c.632C>T (p.Ala211Val) n.498C>T | |
| 20 | g.10658530G>C | CA408240033 | JAG1 | c.632C>G (p.Ala211Gly) n.498C>G | |
| 20 | g.10658530G>T | CA408240034 | JAG1 | c.632C>A (p.Ala211Asp) n.498C>A | |
| 20 | g.10658531C>A | CA408240035 | JAG1 | c.631G>T (p.Ala211Ser) n.497G>T | |
| 20 | g.10658531C= | CA2349888399 | JAG1 | c.631G= (p.Ala211=) n.497G= | |
| 20 | g.10658531C>G | CA408240036 | JAG1 | c.631G>C (p.Ala211Pro) n.497G>C | |
| 20 | g.10658531C>T | CA311351504 | JAG1 | c.631G>A (p.Ala211Thr) n.497G>A | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.10658532A>C | CA408240038 | JAG1 | c.630T>G (p.Tyr210Ter) n.496T>G | |
| 20 | g.10658532A>G | CA509816406 | JAG1 | c.630T>C (p.Tyr210=) n.496T>C | ClinVar |
| 20 | g.10658532A>T | CA408240037 | JAG1 | c.630T>A (p.Tyr210Ter) n.496T>A | |
| 20 | g.10658533T>A | CA408240039 | JAG1 | c.629A>T (p.Tyr210Phe) n.495A>T | |
| 20 | g.10658533T>C | CA408240040 | JAG1 | c.629A>G (p.Tyr210Cys) n.495A>G | |
| 20 | g.10658533T>G | CA408240041 | JAG1 | c.629A>C (p.Tyr210Ser) n.495A>C |