| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.10658512T>A | CA408239988 | JAG1 | c.650A>T (p.Asn217Ile) n.516A>T | |
| 20 | g.10658512T>C | CA408239989 | JAG1 | c.650A>G (p.Asn217Ser) n.516A>G | ClinVar gnomAD v4 |
| 20 | g.10658512T>G | CA408239990 | JAG1 | c.650A>C (p.Asn217Thr) n.516A>C | COSMIC COSMIC |
| 20 | g.10658513T>A | CA408239991 | JAG1 | c.649A>T (p.Asn217Tyr) n.515A>T | |
| 20 | g.10658513T>C | CA408239992 | JAG1 | c.649A>G (p.Asn217Asp) n.515A>G | |
| 20 | g.10658513T>G | CA408239993 | JAG1 | c.649A>C (p.Asn217His) n.515A>C | dbSNP |
| 20 | g.10658513T= | CA2349888393 | JAG1 | c.649A= (p.Asn217=) n.515A= | |
| 20 | g.10658514G>A | CA509816394 | JAG1 | c.648C>T (p.Gly216=) n.514C>T | |
| 20 | g.10658514G>C | CA509816392 | JAG1 | c.648C>G (p.Gly216=) n.514C>G | |
| 20 | g.10658514G>T | CA509816393 | JAG1 | c.648C>A (p.Gly216=) n.514C>A | |
| 20 | g.10658514dup | CA645369803 | JAG1 | c.648dup (p.Asn217GlnfsTer14) n.514dup | ClinVar dbSNP |
| 20 | g.10658515C>A | CA408239994 | JAG1 | c.647G>T (p.Gly216Val) n.513G>T | ClinVar |
| 20 | g.10658515C>G | CA408239995 | JAG1 | c.647G>C (p.Gly216Ala) n.513G>C | |
| 20 | g.10658515C>T | CA408239996 | JAG1 | c.647G>A (p.Gly216Asp) n.513G>A | COSMIC COSMIC |
| 20 | g.10658516del | CA2580097941 | JAG1 | c.647del (p.Gly216AlafsTer?) n.513del | ClinVar |
| 20 | g.10658516C>A | CA408239997 | JAG1 | c.646G>T (p.Gly216Cys) n.512G>T | |
| 20 | g.10658516C>G | CA408239998 | JAG1 | c.646G>C (p.Gly216Arg) n.512G>C | |
| 20 | g.10658516C>T | CA408239999 | JAG1 | c.646G>A (p.Gly216Ser) n.512G>A | |
| 20 | g.10658517A= | CA2349888394 | JAG1 | c.645T= (p.Asn215=) n.511T= | |
| 20 | g.10658517A>C | CA408240000 | JAG1 | c.645T>G (p.Asn215Lys) n.511T>G | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10658517A>G | CA509816398 | JAG1 | c.645T>C (p.Asn215=) n.511T>C | |
| 20 | g.10658517A>T | CA408240001 | JAG1 | c.645T>A (p.Asn215Lys) n.511T>A | |
| 20 | g.10658518T>A | CA408240003 | JAG1 | c.644A>T (p.Asn215Ile) n.510A>T | |
| 20 | g.10658518T>C | CA408240004 | JAG1 | c.644A>G (p.Asn215Ser) n.510A>G | ClinVar gnomAD v4 |
| 20 | g.10658518T>G | CA408240002 | JAG1 | c.644A>C (p.Asn215Thr) n.510A>C | |
| 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 |