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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.15191773A>C | CA404532321 | NOTCH3 | c.774T>G (p.Tyr258Ter) c.771T>G (p.Tyr257Ter) | |
| 19 | g.15191773A>G | CA506078709 | NOTCH3 | c.774T>C (p.Tyr258=) c.771T>C (p.Tyr257=) | |
| 19 | g.15191773A>T | CA404532320 | NOTCH3 | c.774T>A (p.Tyr258Ter) c.771T>A (p.Tyr257Ter) | |
| 19 | g.15191774T>A | CA305777488 | NOTCH3 | c.773A>T (p.Tyr258Phe) c.770A>T (p.Tyr257Phe) | dbSNP |
| 19 | g.15191774T>C | CA404532336 | NOTCH3 | c.773A>G (p.Tyr258Cys) c.770A>G (p.Tyr257Cys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.15191774T>G | CA404532339 | NOTCH3 | c.773A>C (p.Tyr258Ser) c.770A>C (p.Tyr257Ser) | |
| 19 | g.15191774T= | CA2324749837 | NOTCH3 | c.773A= (p.Tyr258=) c.770A= (p.Tyr257=) | |
| 19 | g.15191775A= | CA2324749838 | NOTCH3 | c.772T= (p.Tyr258=) c.769T= (p.Tyr257=) | |
| 19 | g.15191775A>C | CA404532342 | NOTCH3 | c.772T>G (p.Tyr258Asp) c.769T>G (p.Tyr257Asp) | |
| 19 | g.15191775A>G | CA305777508 | NOTCH3 | c.772T>C (p.Tyr258His) c.769T>C (p.Tyr257His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191775A>T | CA404532352 | NOTCH3 | c.772T>A (p.Tyr258Asn) c.769T>A (p.Tyr257Asn) | |
| 19 | g.15191776G>A | CA506078714 | NOTCH3 | c.771C>T (p.Thr257=) c.768C>T (p.Thr256=) | |
| 19 | g.15191776G>C | CA506078715 | NOTCH3 | c.771C>G (p.Thr257=) c.768C>G (p.Thr256=) | |
| 19 | g.15191776G= | CA2324749839 | NOTCH3 | c.771C= (p.Thr257=) c.768C= (p.Thr256=) | |
| 19 | g.15191776G>T | CA9263795 | NOTCH3 | c.771C>A (p.Thr257=) c.768C>A (p.Thr256=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191777G>A | CA404532354 | NOTCH3 | c.770C>T (p.Thr257Ile) c.767C>T (p.Thr256Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191777G>C | CA404532355 | NOTCH3 | c.770C>G (p.Thr257Ser) c.767C>G (p.Thr256Ser) | |
| 19 | g.15191777G= | CA2324749840 | NOTCH3 | c.770C= (p.Thr257=) c.767C= (p.Thr256=) | |
| 19 | g.15191777G>T | CA404532357 | NOTCH3 | c.770C>A (p.Thr257Asn) c.767C>A (p.Thr256Asn) | gnomAD v4 |
| 19 | g.15191778T>A | CA404532358 | NOTCH3 | c.769A>T (p.Thr257Ser) c.766A>T (p.Thr256Ser) | |
| 19 | g.15191778T>C | CA404532360 | NOTCH3 | c.769A>G (p.Thr257Ala) c.766A>G (p.Thr256Ala) | |
| 19 | g.15191778T>G | CA404532361 | NOTCH3 | c.769A>C (p.Thr257Pro) c.766A>C (p.Thr256Pro) | dbSNP |
| 19 | g.15191778T= | CA2324749841 | NOTCH3 | c.769A= (p.Thr257=) c.766A= (p.Thr256=) | |
| 19 | g.15191779G>A | CA9263796 | NOTCH3 | c.768C>T (p.Asn256=) c.765C>T (p.Asn255=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.15191779G>C | CA404532390 | NOTCH3 | c.768C>G (p.Asn256Lys) c.765C>G (p.Asn255Lys) | |
| 19 | g.15191779G= | CA2324749842 | NOTCH3 | c.768C= (p.Asn256=) c.765C= (p.Asn255=) | |
| 19 | g.15191779G>T | CA404532376 | NOTCH3 | c.768C>A (p.Asn256Lys) c.765C>A (p.Asn255Lys) | |
| 19 | g.15191780T>A | CA404532394 | NOTCH3 | c.767A>T (p.Asn256Ile) c.764A>T (p.Asn255Ile) | dbSNP |
| 19 | g.15191780T>C | CA404532396 | NOTCH3 | c.767A>G (p.Asn256Ser) c.764A>G (p.Asn255Ser) | gnomAD v4 |
| 19 | g.15191780T>G | CA404532398 | NOTCH3 | c.767A>C (p.Asn256Thr) c.764A>C (p.Asn255Thr) | |
| 19 | g.15191781T>A | CA404532406 | NOTCH3 | c.766A>T (p.Asn256Tyr) c.763A>T (p.Asn255Tyr) | |
| 19 | g.15191781T>C | CA404532410 | NOTCH3 | c.766A>G (p.Asn256Asp) c.763A>G (p.Asn255Asp) | dbSNP |
| 19 | g.15191781T>G | CA404532420 | NOTCH3 | c.766A>C (p.Asn256His) c.763A>C (p.Asn255His) | |
| 19 | g.15191782G>A | CA506078719 | NOTCH3 | c.765C>T (p.Val255=) c.762C>T (p.Val254=) | |
| 19 | g.15191782G>C | CA506078721 | NOTCH3 | c.765C>G (p.Val255=) c.762C>G (p.Val254=) | dbSNP |
| 19 | g.15191782G>T | CA506078722 | NOTCH3 | c.765C>A (p.Val255=) c.762C>A (p.Val254=) | dbSNP |
| 19 | g.15191783A>C | CA404532424 | NOTCH3 | c.764T>G (p.Val255Gly) c.761T>G (p.Val254Gly) | |
| 19 | g.15191783A>G | CA404532427 | NOTCH3 | c.764T>C (p.Val255Ala) c.761T>C (p.Val254Ala) | |
| 19 | g.15191783A>T | CA404532432 | NOTCH3 | c.764T>A (p.Val255Asp) c.761T>A (p.Val254Asp) | dbSNP |
| 19 | g.15191784C>A | CA404532435 | NOTCH3 | c.763G>T (p.Val255Phe) c.760G>T (p.Val254Phe) | |
| 19 | g.15191784C= | CA2324749843 | NOTCH3 | c.763G= (p.Val255=) c.760G= (p.Val254=) | |
| 19 | g.15191784C>G | CA404532436 | NOTCH3 | c.763G>C (p.Val255Leu) c.760G>C (p.Val254Leu) | |
| 19 | g.15191784C>T | CA404532437 | NOTCH3 | c.763G>A (p.Val255Ile) c.760G>A (p.Val254Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.15191785G>A | CA9263797 | NOTCH3 | c.762C>T (p.Gly254=) c.759C>T (p.Gly253=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191785G>C | CA506078726 | NOTCH3 | c.762C>G (p.Gly254=) c.759C>G (p.Gly253=) | |
| 19 | g.15191785G= | CA2324749844 | NOTCH3 | c.762C= (p.Gly254=) c.759C= (p.Gly253=) | |
| 19 | g.15191785G>T | CA506078727 | NOTCH3 | c.762C>A (p.Gly254=) c.759C>A (p.Gly253=) | |
| 19 | g.15191786C>A | CA404532438 | NOTCH3 | c.761G>T (p.Gly254Val) c.758G>T (p.Gly253Val) | |
| 19 | g.15191786C>G | CA404532442 | NOTCH3 | c.761G>C (p.Gly254Ala) c.758G>C (p.Gly253Ala) | |
| 19 | g.15191786C>T | CA404532440 | NOTCH3 | c.761G>A (p.Gly254Asp) c.758G>A (p.Gly253Asp) | |
| 19 | g.15191787C>A | CA404532443 | NOTCH3 | c.760G>T (p.Gly254Cys) c.757G>T (p.Gly253Cys) | |
| 19 | g.15191787C>G | CA404532446 | NOTCH3 | c.760G>C (p.Gly254Arg) c.757G>C (p.Gly253Arg) | dbSNP |
| 19 | g.15191787C>T | CA404532452 | NOTCH3 | c.760G>A (p.Gly254Ser) c.757G>A (p.Gly253Ser) | |
| 19 | g.15191788A>C | CA404532453 | NOTCH3 | c.759T>G (p.Asp253Glu) c.756T>G (p.Asp252Glu) | dbSNP |
| 19 | g.15191788A>G | CA506078731 | NOTCH3 | c.759T>C (p.Asp253=) c.756T>C (p.Asp252=) | dbSNP |
| 19 | g.15191788A>T | CA404532456 | NOTCH3 | c.759T>A (p.Asp253Glu) c.756T>A (p.Asp252Glu) | |
| 19 | g.15191788_15191833delinsATCCACGCATGTCCCCCCATTGAGACATCGGTGTCCTGGACAGTCG | CA2324749845 | NOTCH3 | c.714_759delinsCGACTGTCCAGGACACCGATGTCTCAATGGGGGGACATGCGTGGAT (p.Asp238=) c.711_756delinsCGACTGTCCAGGACACCGATGTCTCAATGGGGGGACATGCGTGGAT (p.Asp237=) | |
| 19 | g.15191789T>A | CA404532471 | NOTCH3 | c.758A>T (p.Asp253Val) c.755A>T (p.Asp252Val) | |
| 19 | g.15191789T>C | CA404532477 | NOTCH3 | c.758A>G (p.Asp253Gly) c.755A>G (p.Asp252Gly) | |
| 19 | g.15191789T>G | CA404532480 | NOTCH3 | c.758A>C (p.Asp253Ala) c.755A>C (p.Asp252Ala) | |
| 19 | g.15191795_15191839del | CA340887 | NOTCH3 | c.714_758del (p.Asp239_Asp253del) c.711_755del (p.Asp238_Asp252del) | ClinVar dbSNP |
| 19 | g.15191790C>A | CA404532498 | NOTCH3 | c.757G>T (p.Asp253Tyr) c.754G>T (p.Asp252Tyr) | |
| 19 | g.15191790C= | CA2324749846 | NOTCH3 | c.757G= (p.Asp253=) c.754G= (p.Asp252=) | |
| 19 | g.15191790C>G | CA404532496 | NOTCH3 | c.757G>C (p.Asp253His) c.754G>C (p.Asp252His) | |
| 19 | g.15191790C>T | CA404532492 | NOTCH3 | c.757G>A (p.Asp253Asn) c.754G>A (p.Asp252Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15191791C>A | CA506078735 | NOTCH3 | c.756G>T (p.Val252=) c.753G>T (p.Val251=) | |
| 19 | g.15191791C>G | CA506078734 | NOTCH3 | c.756G>C (p.Val252=) c.753G>C (p.Val251=) | dbSNP |
| 19 | g.15191791C>T | CA506078733 | NOTCH3 | c.756G>A (p.Val252=) c.753G>A (p.Val251=) | |
| 19 | g.15191792A>C | CA404532500 | NOTCH3 | c.755T>G (p.Val252Gly) c.752T>G (p.Val251Gly) | |
| 19 | g.15191792A>G | CA404532503 | NOTCH3 | c.755T>C (p.Val252Ala) c.752T>C (p.Val251Ala) | |
| 19 | g.15191792A>T | CA404532507 | NOTCH3 | c.755T>A (p.Val252Glu) c.752T>A (p.Val251Glu) | dbSNP |
| 19 | g.15191793C>A | CA404532510 | NOTCH3 | c.754G>T (p.Val252Leu) c.751G>T (p.Val251Leu) | |
| 19 | g.15191793C= | CA2324749847 | NOTCH3 | c.754G= (p.Val252=) c.751G= (p.Val251=) | |
| 19 | g.15191793C>G | CA404532512 | NOTCH3 | c.754G>C (p.Val252Leu) c.751G>C (p.Val251Leu) | dbSNP |
| 19 | g.15191793C>T | CA9263798 | NOTCH3 | c.754G>A (p.Val252Met) c.751G>A (p.Val251Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.15191794G>A | CA506078737 | NOTCH3 | c.753C>T (p.Cys251=) c.750C>T (p.Cys250=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.15191794G>C | CA404532521 | NOTCH3 | c.753C>G (p.Cys251Trp) c.750C>G (p.Cys250Trp) | dbSNP |
| 19 | g.15191794G= | CA2324749848 | NOTCH3 | c.753C= (p.Cys251=) c.750C= (p.Cys250=) | |
| 19 | g.15191794G>T | CA404532518 | NOTCH3 | c.753C>A (p.Cys251Ter) c.750C>A (p.Cys250Ter) | |
| 19 | g.15191795C>A | CA404532525 | NOTCH3 | c.752G>T (p.Cys251Phe) c.749G>T (p.Cys250Phe) | ClinVar dbSNP |
| 19 | g.15191795C= | CA2324749849 | NOTCH3 | c.752G= (p.Cys251=) c.749G= (p.Cys250=) | |
| 19 | g.15191795C>G | CA404532526 | NOTCH3 | c.752G>C (p.Cys251Ser) c.749G>C (p.Cys250Ser) | dbSNP COSMIC COSMIC |
| 19 | g.15191795C>T | CA404532528 | NOTCH3 | c.752G>A (p.Cys251Tyr) c.749G>A (p.Cys250Tyr) | ClinVar dbSNP |
| 19 | g.15191796A= | CA2324749850 | NOTCH3 | c.751T= (p.Cys251=) c.748T= (p.Cys250=) | |
| 19 | g.15191796A>C | CA404532531 | NOTCH3 | c.751T>G (p.Cys251Gly) c.748T>G (p.Cys250Gly) | |
| 19 | g.15191796A>G | CA404532533 | NOTCH3 | c.751T>C (p.Cys251Arg) c.748T>C (p.Cys250Arg) | ClinVar dbSNP |
| 19 | g.15191796A>T | CA404532536 | NOTCH3 | c.751T>A (p.Cys251Ser) c.748T>A (p.Cys250Ser) | ClinVar |
| 19 | g.15191797T>A | CA506078741 | NOTCH3 | c.750A>T (p.Thr250=) c.747A>T (p.Thr249=) | |
| 19 | g.15191797T>C | CA506078740 | NOTCH3 | c.750A>G (p.Thr250=) c.747A>G (p.Thr249=) | dbSNP gnomAD v4 |
| 19 | g.15191797T>G | CA506078739 | NOTCH3 | c.750A>C (p.Thr250=) c.747A>C (p.Thr249=) | |
| 19 | g.15191798G>A | CA404532541 | NOTCH3 | c.749C>T (p.Thr250Ile) c.746C>T (p.Thr249Ile) | dbSNP gnomAD v4 |
| 19 | g.15191798G>C | CA404532538 | NOTCH3 | c.749C>G (p.Thr250Arg) c.746C>G (p.Thr249Arg) | dbSNP |
| 19 | g.15191798G>T | CA404532539 | NOTCH3 | c.749C>A (p.Thr250Lys) c.746C>A (p.Thr249Lys) | |
| 19 | g.15191799T>A | CA404532542 | NOTCH3 | c.748A>T (p.Thr250Ser) c.745A>T (p.Thr249Ser) | |
| 19 | g.15191799T>C | CA404532544 | NOTCH3 | c.748A>G (p.Thr250Ala) c.745A>G (p.Thr249Ala) | dbSNP |
| 19 | g.15191799T>G | CA404532546 | NOTCH3 | c.748A>C (p.Thr250Pro) c.745A>C (p.Thr249Pro) | |
| 19 | g.15191799T= | CA2324749851 | NOTCH3 | c.748A= (p.Thr250=) c.745A= (p.Thr249=) | |
| 19 | g.15191799dup | CA2580096672 | NOTCH3 | c.748dup (p.Thr250AsnfsTer10) c.745dup (p.Thr249AsnfsTer10) | ClinVar |
| 19 | g.15191800C>A | CA506078748 | NOTCH3 | c.747G>T (p.Gly249=) c.744G>T (p.Gly248=) | gnomAD v4 |
| 19 | g.15191800C= | CA2324749852 | NOTCH3 | c.747G= (p.Gly249=) c.744G= (p.Gly248=) | |
| 19 | g.15191800C>G | CA506078745 | NOTCH3 | c.747G>C (p.Gly249=) c.744G>C (p.Gly248=) | dbSNP |
| 19 | g.15191800C>T | CA506078747 | NOTCH3 | c.747G>A (p.Gly249=) c.744G>A (p.Gly248=) | dbSNP gnomAD v4 |
| 19 | g.15191805dup | CA632128097 | NOTCH3 | c.747dup (p.Thr250AspfsTer10) c.744dup (p.Thr249AspfsTer10) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15191805del | CA506078746 | NOTCH3 | c.747del (p.Thr250HisfsTer?) c.744del (p.Thr249HisfsTer?) | COSMIC COSMIC |
| 19 | g.15191801C>A | CA404532548 | NOTCH3 | c.746G>T (p.Gly249Val) c.743G>T (p.Gly248Val) | |
| 19 | g.15191801C>G | CA404532549 | NOTCH3 | c.746G>C (p.Gly249Ala) c.743G>C (p.Gly248Ala) | dbSNP |
| 19 | g.15191801C>T | CA404532552 | NOTCH3 | c.746G>A (p.Gly249Glu) c.743G>A (p.Gly248Glu) | dbSNP |
| 19 | g.15191802C>A | CA404532560 | NOTCH3 | c.745G>T (p.Gly249Trp) c.742G>T (p.Gly248Trp) | |
| 19 | g.15191802C= | CA2324749853 | NOTCH3 | c.745G= (p.Gly249=) c.742G= (p.Gly248=) | |
| 19 | g.15191802C>G | CA404532562 | NOTCH3 | c.745G>C (p.Gly249Arg) c.742G>C (p.Gly248Arg) | |
| 19 | g.15191802C>T | CA305777548 | NOTCH3 | c.745G>A (p.Gly249Arg) c.742G>A (p.Gly248Arg) | dbSNP |
| 19 | g.15191803C>A | CA506078750 | NOTCH3 | c.744G>T (p.Gly248=) c.741G>T (p.Gly247=) | |
| 19 | g.15191803C= | CA2324749854 | NOTCH3 | c.744G= (p.Gly248=) c.741G= (p.Gly247=) | |
| 19 | g.15191803C>G | CA506078751 | NOTCH3 | c.744G>C (p.Gly248=) c.741G>C (p.Gly247=) | |
| 19 | g.15191803C>T | CA506078752 | NOTCH3 | c.744G>A (p.Gly248=) c.741G>A (p.Gly247=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15191804C>A | CA305777551 | NOTCH3 | c.743G>T (p.Gly248Val) c.740G>T (p.Gly247Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191804C= | CA2324749855 | NOTCH3 | c.743G= (p.Gly248=) c.740G= (p.Gly247=) | |
| 19 | g.15191804C>G | CA9263799 | NOTCH3 | c.743G>C (p.Gly248Ala) c.740G>C (p.Gly247Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191804C>T | CA404532564 | NOTCH3 | c.743G>A (p.Gly248Glu) c.740G>A (p.Gly247Glu) | dbSNP gnomAD v4 |
| 19 | g.15191804_15191805delinsAT | CA2580096673 | NOTCH3 | c.742_743delinsAT (p.Gly248Met) c.739_740delinsAT (p.Gly247Met) | ClinVar |
| 19 | g.15191805C>A | CA404532566 | NOTCH3 | c.742G>T (p.Gly248Trp) c.739G>T (p.Gly247Trp) | |
| 19 | g.15191805C>G | CA404532580 | NOTCH3 | c.742G>C (p.Gly248Arg) c.739G>C (p.Gly247Arg) | dbSNP |
| 19 | g.15191805C>T | CA404532577 | NOTCH3 | c.742G>A (p.Gly248Arg) c.739G>A (p.Gly247Arg) | |
| 19 | g.15191806A= | CA2324749856 | NOTCH3 | c.741T= (p.Asn247=) c.738T= (p.Asn246=) | |
| 19 | g.15191806A>C | CA404532582 | NOTCH3 | c.741T>G (p.Asn247Lys) c.738T>G (p.Asn246Lys) | ClinVar dbSNP |
| 19 | g.15191806A>G | CA506078756 | NOTCH3 | c.741T>C (p.Asn247=) c.738T>C (p.Asn246=) | dbSNP |
| 19 | g.15191806A>T | CA404532586 | NOTCH3 | c.741T>A (p.Asn247Lys) c.738T>A (p.Asn246Lys) | |
| 19 | g.15191807T>A | CA404532588 | NOTCH3 | c.740A>T (p.Asn247Ile) c.737A>T (p.Asn246Ile) | |
| 19 | g.15191807T>C | CA9263800 | NOTCH3 | c.740A>G (p.Asn247Ser) c.737A>G (p.Asn246Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191807T>G | CA404532591 | NOTCH3 | c.740A>C (p.Asn247Thr) c.737A>C (p.Asn246Thr) | |
| 19 | g.15191807T= | CA2324749857 | NOTCH3 | c.740A= (p.Asn247=) c.737A= (p.Asn246=) | |
| 19 | g.15191808T>A | CA404532592 | NOTCH3 | c.739A>T (p.Asn247Tyr) c.736A>T (p.Asn246Tyr) | |
| 19 | g.15191808T>C | CA404532595 | NOTCH3 | c.739A>G (p.Asn247Asp) c.736A>G (p.Asn246Asp) | gnomAD v4 |
| 19 | g.15191808T>G | CA404532597 | NOTCH3 | c.739A>C (p.Asn247His) c.736A>C (p.Asn246His) | dbSNP gnomAD v4 |
| 19 | g.15191808T= | CA2324749858 | NOTCH3 | c.739A= (p.Asn247=) c.736A= (p.Asn246=) | |
| 19 | g.15191809G>A | CA506078760 | NOTCH3 | c.738C>T (p.Leu246=) c.735C>T (p.Leu245=) | ClinVar dbSNP |
| 19 | g.15191809G>C | CA506078761 | NOTCH3 | c.738C>G (p.Leu246=) c.735C>G (p.Leu245=) | |
| 19 | g.15191809G>T | CA506078762 | NOTCH3 | c.738C>A (p.Leu246=) c.735C>A (p.Leu245=) | dbSNP |
| 19 | g.15191810A>C | CA404532600 | NOTCH3 | c.737T>G (p.Leu246Arg) c.734T>G (p.Leu245Arg) | dbSNP |
| 19 | g.15191810A>G | CA404532603 | NOTCH3 | c.737T>C (p.Leu246Pro) c.734T>C (p.Leu245Pro) | dbSNP |
| 19 | g.15191810A>T | CA404532604 | NOTCH3 | c.737T>A (p.Leu246His) c.734T>A (p.Leu245His) | |
| 19 | g.15191811G>A | CA404532613 | NOTCH3 | c.736C>T (p.Leu246Phe) c.733C>T (p.Leu245Phe) | COSMIC COSMIC |
| 19 | g.15191811G>C | CA404532610 | NOTCH3 | c.736C>G (p.Leu246Val) c.733C>G (p.Leu245Val) | |
| 19 | g.15191811G>T | CA404532606 | NOTCH3 | c.736C>A (p.Leu246Ile) c.733C>A (p.Leu245Ile) | |
| 19 | g.15191812A>C | CA404532615 | NOTCH3 | c.735T>G (p.Cys245Trp) c.732T>G (p.Cys244Trp) | |
| 19 | g.15191812A>G | CA506078766 | NOTCH3 | c.735T>C (p.Cys245=) c.732T>C (p.Cys244=) | dbSNP |
| 19 | g.15191812A>T | CA404532617 | NOTCH3 | c.735T>A (p.Cys245Ter) c.732T>A (p.Cys244Ter) | |
| 19 | g.15191813C>A | CA404532618 | NOTCH3 | c.734G>T (p.Cys245Phe) c.731G>T (p.Cys244Phe) | |
| 19 | g.15191813C>G | CA404532623 | NOTCH3 | c.734G>C (p.Cys245Ser) c.731G>C (p.Cys244Ser) | |
| 19 | g.15191813C>T | CA404532626 | NOTCH3 | c.734G>A (p.Cys245Tyr) c.731G>A (p.Cys244Tyr) | |
| 19 | g.15191814A>C | CA404532648 | NOTCH3 | c.733T>G (p.Cys245Gly) c.730T>G (p.Cys244Gly) | |
| 19 | g.15191814A>G | CA404532652 | NOTCH3 | c.733T>C (p.Cys245Arg) c.730T>C (p.Cys244Arg) | ClinVar dbSNP |
| 19 | g.15191814A>T | CA404532654 | NOTCH3 | c.733T>A (p.Cys245Ser) c.730T>A (p.Cys244Ser) | |
| 19 | g.15191815T>A | CA506078768 | NOTCH3 | c.732A>T (p.Arg244=) c.729A>T (p.Arg243=) | |
| 19 | g.15191815T>C | CA506078772 | NOTCH3 | c.732A>G (p.Arg244=) c.729A>G (p.Arg243=) | |
| 19 | g.15191815T>G | CA506078770 | NOTCH3 | c.732A>C (p.Arg244=) c.729A>C (p.Arg243=) | |
| 19 | g.15191816C>A | CA404532657 | NOTCH3 | c.731G>T (p.Arg244Leu) c.728G>T (p.Arg243Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15191816C= | CA2324749859 | NOTCH3 | c.731G= (p.Arg244=) c.728G= (p.Arg243=) | |
| 19 | g.15191816C>G | CA404532660 | NOTCH3 | c.731G>C (p.Arg244Pro) c.728G>C (p.Arg243Pro) | |
| 19 | g.15191816C>T | CA9263801 | NOTCH3 | c.731G>A (p.Arg244Gln) c.728G>A (p.Arg243Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.15191817G>A | CA404532670 | NOTCH3 | c.730C>T (p.Arg244Ter) c.727C>T (p.Arg243Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15191817G>C | CA404532672 | NOTCH3 | c.730C>G (p.Arg244Gly) c.727C>G (p.Arg243Gly) | |
| 19 | g.15191817G= | CA2324749860 | NOTCH3 | c.730C= (p.Arg244=) c.727C= (p.Arg243=) | |
| 19 | g.15191817G>T | CA506078773 | NOTCH3 | c.730C>A (p.Arg244=) c.727C>A (p.Arg243=) | dbSNP |
| 19 | g.15191818G>A | CA506078774 | NOTCH3 | c.729C>T (p.His243=) c.726C>T (p.His242=) | gnomAD v4 |
| 19 | g.15191818G>C | CA404532679 | NOTCH3 | c.729C>G (p.His243Gln) c.726C>G (p.His242Gln) | |
| 19 | g.15191818G>T | CA404532676 | NOTCH3 | c.729C>A (p.His243Gln) c.726C>A (p.His242Gln) | |
| 19 | g.15191819T>A | CA404532682 | NOTCH3 | c.728A>T (p.His243Leu) c.725A>T (p.His242Leu) | |
| 19 | g.15191819T>C | CA404532684 | NOTCH3 | c.728A>G (p.His243Arg) c.725A>G (p.His242Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15191819T>G | CA404532683 | NOTCH3 | c.728A>C (p.His243Pro) c.725A>C (p.His242Pro) | dbSNP |
| 19 | g.15191819T= | CA2324749861 | NOTCH3 | c.728A= (p.His243=) c.725A= (p.His242=) | |
| 19 | g.15191820G>A | CA9263802 | NOTCH3 | c.727C>T (p.His243Tyr) c.724C>T (p.His242Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191820G>C | CA404532688 | NOTCH3 | c.727C>G (p.His243Asp) c.724C>G (p.His242Asp) | |
| 19 | g.15191820G= | CA2324749862 | NOTCH3 | c.727C= (p.His243=) c.724C= (p.His242=) | |
| 19 | g.15191820G>T | CA404532687 | NOTCH3 | c.727C>A (p.His243Asn) c.724C>A (p.His242Asn) | |
| 19 | g.15191821T>A | CA506078776 | NOTCH3 | c.726A>T (p.Gly242=) c.723A>T (p.Gly241=) | |
| 19 | g.15191821T>C | CA506078778 | NOTCH3 | c.726A>G (p.Gly242=) c.723A>G (p.Gly241=) | dbSNP |
| 19 | g.15191821T>G | CA506078777 | NOTCH3 | c.726A>C (p.Gly242=) c.723A>C (p.Gly241=) | |
| 19 | g.15191822C>A | CA404532691 | NOTCH3 | c.725G>T (p.Gly242Val) c.722G>T (p.Gly241Val) | dbSNP |
| 19 | g.15191822C= | CA2324749863 | NOTCH3 | c.725G= (p.Gly242=) c.722G= (p.Gly241=) | |
| 19 | g.15191822C>G | CA404532694 | NOTCH3 | c.725G>C (p.Gly242Ala) c.722G>C (p.Gly241Ala) | dbSNP |
| 19 | g.15191822C>T | CA404532695 | NOTCH3 | c.725G>A (p.Gly242Glu) c.722G>A (p.Gly241Glu) | dbSNP |
| 19 | g.15191823C>A | CA404532699 | NOTCH3 | c.724G>T (p.Gly242Ter) c.721G>T (p.Gly241Ter) | |
| 19 | g.15191823C= | CA2324749864 | NOTCH3 | c.724G= (p.Gly242=) c.721G= (p.Gly241=) | |
| 19 | g.15191823C>G | CA404532708 | NOTCH3 | c.724G>C (p.Gly242Arg) c.721G>C (p.Gly241Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15191823C>T | CA404532710 | NOTCH3 | c.724G>A (p.Gly242Arg) c.721G>A (p.Gly241Arg) | |
| 19 | g.15191824T>A | CA506078779 | NOTCH3 | c.723A>T (p.Pro241=) c.720A>T (p.Pro240=) | |
| 19 | g.15191824T>C | CA506078780 | NOTCH3 | c.723A>G (p.Pro241=) c.720A>G (p.Pro240=) | dbSNP gnomAD v4 |
| 19 | g.15191824T>G | CA506078781 | NOTCH3 | c.723A>C (p.Pro241=) c.720A>C (p.Pro240=) | |
| 19 | g.15191825G>A | CA404532714 | NOTCH3 | c.722C>T (p.Pro241Leu) c.719C>T (p.Pro240Leu) | |
| 19 | g.15191825G>C | CA404532718 | NOTCH3 | c.722C>G (p.Pro241Arg) c.719C>G (p.Pro240Arg) | |
| 19 | g.15191825G>T | CA404532722 | NOTCH3 | c.722C>A (p.Pro241Gln) c.719C>A (p.Pro240Gln) | |
| 19 | g.15191826G>A | CA404532724 | NOTCH3 | c.721C>T (p.Pro241Ser) c.718C>T (p.Pro240Ser) | |
| 19 | g.15191826G>C | CA404532725 | NOTCH3 | c.721C>G (p.Pro241Ala) c.718C>G (p.Pro240Ala) | |
| 19 | g.15191826G>T | CA404532726 | NOTCH3 | c.721C>A (p.Pro241Thr) c.718C>A (p.Pro240Thr) | |
| 19 | g.15191827A>C | CA404532733 | NOTCH3 | c.720T>G (p.Cys240Trp) c.717T>G (p.Cys239Trp) | |
| 19 | g.15191827A>G | CA506078782 | NOTCH3 | c.720T>C (p.Cys240=) c.717T>C (p.Cys239=) | |
| 19 | g.15191827A>T | CA404532730 | NOTCH3 | c.720T>A (p.Cys240Ter) c.717T>A (p.Cys239Ter) | gnomAD v4 |
| 19 | g.15191828C>A | CA404532736 | NOTCH3 | c.719G>T (p.Cys240Phe) c.716G>T (p.Cys239Phe) | |
| 19 | g.15191828C= | CA2324749865 | NOTCH3 | c.719G= (p.Cys240=) c.716G= (p.Cys239=) | |
| 19 | g.15191828C>G | CA404532739 | NOTCH3 | c.719G>C (p.Cys240Ser) c.716G>C (p.Cys239Ser) | |
| 19 | g.15191828C>T | CA404532746 | NOTCH3 | c.719G>A (p.Cys240Tyr) c.716G>A (p.Cys239Tyr) | ClinVar dbSNP |
| 19 | g.15191829A>C | CA404532748 | NOTCH3 | c.718T>G (p.Cys240Gly) c.715T>G (p.Cys239Gly) | |
| 19 | g.15191829A>G | CA404532750 | NOTCH3 | c.718T>C (p.Cys240Arg) c.715T>C (p.Cys239Arg) | |
| 19 | g.15191829A>T | CA404532752 | NOTCH3 | c.718T>A (p.Cys240Ser) c.715T>A (p.Cys239Ser) | |
| 19 | g.15191830G>A | CA506078783 | NOTCH3 | c.717C>T (p.Asp239=) c.714C>T (p.Asp238=) | |
| 19 | g.15191830G>C | CA404532754 | NOTCH3 | c.717C>G (p.Asp239Glu) c.714C>G (p.Asp238Glu) | dbSNP |
| 19 | g.15191830G>T | CA404532755 | NOTCH3 | c.717C>A (p.Asp239Glu) c.714C>A (p.Asp238Glu) | |
| 19 | g.15191831T>A | CA404532756 | NOTCH3 | c.716A>T (p.Asp239Val) c.713A>T (p.Asp238Val) | dbSNP gnomAD v4 |
| 19 | g.15191831T>C | CA404532758 | NOTCH3 | c.716A>G (p.Asp239Gly) c.713A>G (p.Asp238Gly) | |
| 19 | g.15191831T>G | CA404532760 | NOTCH3 | c.716A>C (p.Asp239Ala) c.713A>C (p.Asp238Ala) | |
| 19 | g.15191832C>A | CA404532765 | NOTCH3 | c.715G>T (p.Asp239Tyr) c.712G>T (p.Asp238Tyr) | gnomAD v4 |
| 19 | g.15191832C= | CA2324749866 | NOTCH3 | c.715G= (p.Asp239=) c.712G= (p.Asp238=) | |
| 19 | g.15191832C>G | CA9263804 | NOTCH3 | c.715G>C (p.Asp239His) c.712G>C (p.Asp238His) | dbSNP ExAC gnomAD v2 |
| 19 | g.15191832C>T | CA9263803 | NOTCH3 | c.715G>A (p.Asp239Asn) c.712G>A (p.Asp238Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.15191833G>A | CA9263805 | NOTCH3 | c.714C>T (p.Asp238=) c.711C>T (p.Asp237=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191833G>C | CA404532768 | NOTCH3 | c.714C>G (p.Asp238Glu) c.711C>G (p.Asp237Glu) | |
| 19 | g.15191833G= | CA2324749867 | NOTCH3 | c.714C= (p.Asp238=) c.711C= (p.Asp237=) | |
| 19 | g.15191833G>T | CA404532773 | NOTCH3 | c.714C>A (p.Asp238Glu) c.711C>A (p.Asp237Glu) | |
| 19 | g.15191834T>A | CA404532777 | NOTCH3 | c.713A>T (p.Asp238Val) c.710A>T (p.Asp237Val) | |
| 19 | g.15191834T>C | CA404532779 | NOTCH3 | c.713A>G (p.Asp238Gly) c.710A>G (p.Asp237Gly) | |
| 19 | g.15191834T>G | CA404532781 | NOTCH3 | c.713A>C (p.Asp238Ala) c.710A>C (p.Asp237Ala) | dbSNP |
| 19 | g.15191835C>A | CA404532783 | NOTCH3 | c.712G>T (p.Asp238Tyr) c.709G>T (p.Asp237Tyr) | gnomAD v4 |
| 19 | g.15191835C= | CA2324749868 | NOTCH3 | c.712G= (p.Asp238=) c.709G= (p.Asp237=) | |
| 19 | g.15191835C>G | CA404532785 | NOTCH3 | c.712G>C (p.Asp238His) c.709G>C (p.Asp237His) | dbSNP |
| 19 | g.15191835C>T | CA305777599 | NOTCH3 | c.712G>A (p.Asp238Asn) c.709G>A (p.Asp237Asn) | dbSNP gnomAD v4 |
| 19 | g.15191836C>A | CA506078784 | NOTCH3 | c.711G>T (p.Val237=) c.708G>T (p.Val236=) | |
| 19 | g.15191836C>G | CA506078786 | NOTCH3 | c.711G>C (p.Val237=) c.708G>C (p.Val236=) | dbSNP |
| 19 | g.15191836C>T | CA506078785 | NOTCH3 | c.711G>A (p.Val237=) c.708G>A (p.Val236=) | dbSNP |
| 19 | g.15191837A>C | CA404532788 | NOTCH3 | c.710T>G (p.Val237Gly) c.707T>G (p.Val236Gly) | |
| 19 | g.15191837A>G | CA404532790 | NOTCH3 | c.710T>C (p.Val237Ala) c.707T>C (p.Val236Ala) | |
| 19 | g.15191837A>T | CA404532792 | NOTCH3 | c.710T>A (p.Val237Glu) c.707T>A (p.Val236Glu) | |
| 19 | g.15191838C>A | CA404532798 | NOTCH3 | c.709G>T (p.Val237Leu) c.706G>T (p.Val236Leu) | ClinVar dbSNP |
| 19 | g.15191838C= | CA2324749869 | NOTCH3 | c.709G= (p.Val237=) c.706G= (p.Val236=) | |
| 19 | g.15191838C>G | CA404532796 | NOTCH3 | c.709G>C (p.Val237Leu) c.706G>C (p.Val236Leu) | |
| 19 | g.15191838C>T | CA9263806 | NOTCH3 | c.709G>A (p.Val237Met) c.706G>A (p.Val236Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191839G>A | CA9263807 | NOTCH3 | c.708C>T (p.Asn236=) c.705C>T (p.Asn235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15191839G>C | CA404532801 | NOTCH3 | c.708C>G (p.Asn236Lys) c.705C>G (p.Asn235Lys) | |
| 19 | g.15191839G= | CA2324749870 | NOTCH3 | c.708C= (p.Asn236=) c.705C= (p.Asn235=) | |
| 19 | g.15191839G>T | CA404532803 | NOTCH3 | c.708C>A (p.Asn236Lys) c.705C>A (p.Asn235Lys) | |
| 19 | g.15191840T>A | CA404532806 | NOTCH3 | c.707A>T (p.Asn236Ile) c.704A>T (p.Asn235Ile) | |
| 19 | g.15191840T>C | CA404532808 | NOTCH3 | c.707A>G (p.Asn236Ser) c.704A>G (p.Asn235Ser) | |
| 19 | g.15191840T>G | CA404532809 | NOTCH3 | c.707A>C (p.Asn236Thr) c.704A>C (p.Asn235Thr) | |
| 19 | g.15191841T>A | CA404532813 | NOTCH3 | c.706A>T (p.Asn236Tyr) c.703A>T (p.Asn235Tyr) | |
| 19 | g.15191841T>C | CA404532815 | NOTCH3 | c.706A>G (p.Asn236Asp) c.703A>G (p.Asn235Asp) | dbSNP |
| 19 | g.15191841T>G | CA404532817 | NOTCH3 | c.706A>C (p.Asn236His) c.703A>C (p.Asn235His) | |
| 19 | g.15191842C>A | CA506078787 | NOTCH3 | c.705G>T (p.Val235=) c.702G>T (p.Val234=) | gnomAD v4 |
| 19 | g.15191842C>G | CA506078789 | NOTCH3 | c.705G>C (p.Val235=) c.702G>C (p.Val234=) | |
| 19 | g.15191842C>T | CA506078788 | NOTCH3 | c.705G>A (p.Val235=) c.702G>A (p.Val234=) | |
| 19 | g.15191843A>C | CA404532820 | NOTCH3 | c.704T>G (p.Val235Gly) c.701T>G (p.Val234Gly) | |
| 19 | g.15191843A>G | CA404532823 | NOTCH3 | c.704T>C (p.Val235Ala) c.701T>C (p.Val234Ala) | |
| 19 | g.15191843A>T | CA404532824 | NOTCH3 | c.704T>A (p.Val235Glu) c.701T>A (p.Val234Glu) | |
| 19 | g.15191844C>A | CA404532835 | NOTCH3 | c.703G>T (p.Val235Leu) c.700G>T (p.Val234Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15191844C= | CA2324749871 | NOTCH3 | c.703G= (p.Val235=) c.700G= (p.Val234=) | |
| 19 | g.15191844C>G | CA404532828 | NOTCH3 | c.703G>C (p.Val235Leu) c.700G>C (p.Val234Leu) | |
| 19 | g.15191844C>T | CA404532826 | NOTCH3 | c.703G>A (p.Val235Met) c.700G>A (p.Val234Met) | |
| 19 | g.15191845T>A | CA404532838 | NOTCH3 | c.702A>T (p.Glu234Asp) c.699A>T (p.Glu233Asp) | |
| 19 | g.15191845T>C | CA506078790 | NOTCH3 | c.702A>G (p.Glu234=) c.699A>G (p.Glu233=) | gnomAD v4 |
| 19 | g.15191845T>G | CA9263808 | NOTCH3 | c.702A>C (p.Glu234Asp) c.699A>C (p.Glu233Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191845T= | CA2324749872 | NOTCH3 | c.702A= (p.Glu234=) c.699A= (p.Glu233=) | |
| 19 | g.15191846T>A | CA404532857 | NOTCH3 | c.701A>T (p.Glu234Val) c.698A>T (p.Glu233Val) | |
| 19 | g.15191846T>C | CA404532858 | NOTCH3 | c.701A>G (p.Glu234Gly) c.698A>G (p.Glu233Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15191846T>G | CA404532859 | NOTCH3 | c.701A>C (p.Glu234Ala) c.698A>C (p.Glu233Ala) | |
| 19 | g.15191846T= | CA2324749873 | NOTCH3 | c.701A= (p.Glu234=) c.698A= (p.Glu233=) | |
| 19 | g.15191847C>A | CA404532862 | NOTCH3 | c.700G>T (p.Glu234Ter) c.697G>T (p.Glu233Ter) | |
| 19 | g.15191847C>G | CA404532863 | NOTCH3 | c.700G>C (p.Glu234Gln) c.697G>C (p.Glu233Gln) | |
| 19 | g.15191847C>T | CA404532864 | NOTCH3 | c.700G>A (p.Glu234Lys) c.697G>A (p.Glu233Lys) | dbSNP gnomAD v4 |
| 19 | g.15191848A>C | CA404532867 | NOTCH3 | c.699T>G (p.Cys233Trp) c.696T>G (p.Cys232Trp) | ClinVar |
| 19 | g.15191848A>G | CA506078791 | NOTCH3 | c.699T>C (p.Cys233=) c.696T>C (p.Cys232=) | gnomAD v4 |
| 19 | g.15191848A>T | CA404532868 | NOTCH3 | c.699T>A (p.Cys233Ter) c.696T>A (p.Cys232Ter) | |
| 19 | g.15191849C>A | CA404532870 | NOTCH3 | c.698G>T (p.Cys233Phe) c.695G>T (p.Cys232Phe) | |
| 19 | g.15191849C>G | CA404532871 | NOTCH3 | c.698G>C (p.Cys233Ser) c.695G>C (p.Cys232Ser) | dbSNP |
| 19 | g.15191849C>T | CA404532873 | NOTCH3 | c.698G>A (p.Cys233Tyr) c.695G>A (p.Cys232Tyr) | ClinVar dbSNP |
| 19 | g.15191850A>C | CA404532878 | NOTCH3 | c.697T>G (p.Cys233Gly) c.694T>G (p.Cys232Gly) | |
| 19 | g.15191850A>G | CA404532879 | NOTCH3 | c.697T>C (p.Cys233Arg) c.694T>C (p.Cys232Arg) | |
| 19 | g.15191850A>T | CA404532880 | NOTCH3 | c.697T>A (p.Cys233Ser) c.694T>A (p.Cys232Ser) | |
| 19 | g.15191850_15191851insCACCAACCCCCAAACACACCCAACAC | CA2813728455 | NOTCH3 | c.696_697insGTGTTGGGTGTGTTTGGGGGTTGGTG (p.Cys233ValfsTer12) c.693_694insGTGTTGGGTGTGTTTGGGGGTTGGTG (p.Cys232ValfsTer12) | |
| 19 | g.15191851A= | CA2324749874 | NOTCH3 | c.696T= (p.Asn232=) c.693T= (p.Asn231=) | |
| 19 | g.15191851A>C | CA404532881 | NOTCH3 | c.696T>G (p.Asn232Lys) c.693T>G (p.Asn231Lys) | |
| 19 | g.15191851A>G | CA506078792 | NOTCH3 | c.696T>C (p.Asn232=) c.693T>C (p.Asn231=) | dbSNP gnomAD v4 |
| 19 | g.15191851A>T | CA404532884 | NOTCH3 | c.696T>A (p.Asn232Lys) c.693T>A (p.Asn231Lys) | |
| 19 | g.15191852T>A | CA404532886 | NOTCH3 | c.695A>T (p.Asn232Ile) c.692A>T (p.Asn231Ile) | |
| 19 | g.15191852T>C | CA404532888 | NOTCH3 | c.695A>G (p.Asn232Ser) c.692A>G (p.Asn231Ser) | |
| 19 | g.15191852T>G | CA404532892 | NOTCH3 | c.695A>C (p.Asn232Thr) c.692A>C (p.Asn231Thr) | |
| 19 | g.15191853T>A | CA404532894 | NOTCH3 | c.694A>T (p.Asn232Tyr) c.691A>T (p.Asn231Tyr) | dbSNP |
| 19 | g.15191853T>C | CA404532896 | NOTCH3 | c.694A>G (p.Asn232Asp) c.691A>G (p.Asn231Asp) | |
| 19 | g.15191853T>G | CA404532897 | NOTCH3 | c.694A>C (p.Asn232His) c.691A>C (p.Asn231His) | |
| 19 | g.15191853T= | CA2324749875 | NOTCH3 | c.694A= (p.Asn232=) c.691A= (p.Asn231=) | |
| 19 | g.15191854C>A | CA404532898 | NOTCH3 | c.693G>T (p.Gln231His) c.690G>T (p.Gln230His) | |
| 19 | g.15191854C= | CA2324749876 | NOTCH3 | c.693G= (p.Gln231=) c.690G= (p.Gln230=) | |
| 19 | g.15191854C>G | CA404532899 | NOTCH3 | c.693G>C (p.Gln231His) c.690G>C (p.Gln230His) | |
| 19 | g.15191854C>T | CA506078793 | NOTCH3 | c.693G>A (p.Gln231=) c.690G>A (p.Gln230=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15191855T>A | CA404532902 | NOTCH3 | c.692A>T (p.Gln231Leu) c.689A>T (p.Gln230Leu) | |
| 19 | g.15191855T>C | CA404532904 | NOTCH3 | c.692A>G (p.Gln231Arg) c.689A>G (p.Gln230Arg) | |
| 19 | g.15191855T>G | CA404532905 | NOTCH3 | c.692A>C (p.Gln231Pro) c.689A>C (p.Gln230Pro) | |
| 19 | g.15191856G>A | CA404532915 | NOTCH3 | c.691C>T (p.Gln231Ter) c.688C>T (p.Gln230Ter) | dbSNP |
| 19 | g.15191856G>C | CA404532914 | NOTCH3 | c.691C>G (p.Gln231Glu) c.688C>G (p.Gln230Glu) | |
| 19 | g.15191856G>T | CA404532907 | NOTCH3 | c.691C>A (p.Gln231Lys) c.688C>A (p.Gln230Lys) | |
| 19 | g.15191857A>C | CA506078602 | NOTCH3 | c.690T>G (p.Gly230=) c.687T>G (p.Gly229=) | |
| 19 | g.15191857A>G | CA506078603 | NOTCH3 | c.690T>C (p.Gly230=) c.687T>C (p.Gly229=) | |
| 19 | g.15191857A>T | CA506078604 | NOTCH3 | c.690T>A (p.Gly230=) c.687T>A (p.Gly229=) | dbSNP |
| 19 | g.15191858C>A | CA404532917 | NOTCH3 | c.689G>T (p.Gly230Val) c.686G>T (p.Gly229Val) | |
| 19 | g.15191858C>G | CA404532919 | NOTCH3 | c.689G>C (p.Gly230Ala) c.686G>C (p.Gly229Ala) | |
| 19 | g.15191858C>T | CA404532920 | NOTCH3 | c.689G>A (p.Gly230Asp) c.686G>A (p.Gly229Asp) | dbSNP gnomAD v4 |
| 19 | g.15191859C>A | CA404532921 | NOTCH3 | c.688G>T (p.Gly230Cys) c.685G>T (p.Gly229Cys) | |
| 19 | g.15191859C= | CA2324749877 | NOTCH3 | c.688G= (p.Gly230=) c.685G= (p.Gly229=) | |
| 19 | g.15191859C>G | CA404532922 | NOTCH3 | c.688G>C (p.Gly230Arg) c.685G>C (p.Gly229Arg) | |
| 19 | g.15191859C>T | CA404532923 | NOTCH3 | c.688G>A (p.Gly230Ser) c.685G>A (p.Gly229Ser) | dbSNP gnomAD v4 |
| 19 | g.15191860C>A | CA404532924 | NOTCH3 | c.687G>T (p.Glu229Asp) c.684G>T (p.Glu228Asp) | dbSNP |
| 19 | g.15191860C= | CA2324749878 | NOTCH3 | c.687G= (p.Glu229=) c.684G= (p.Glu228=) | |
| 19 | g.15191860C>G | CA404532926 | NOTCH3 | c.687G>C (p.Glu229Asp) c.684G>C (p.Glu228Asp) | COSMIC COSMIC |
| 19 | g.15191860C>T | CA305777607 | NOTCH3 | c.687G>A (p.Glu229=) c.684G>A (p.Glu228=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191861T>A | CA404532928 | NOTCH3 | c.686A>T (p.Glu229Val) c.683A>T (p.Glu228Val) | |
| 19 | g.15191861T>C | CA404532930 | NOTCH3 | c.686A>G (p.Glu229Gly) c.683A>G (p.Glu228Gly) | |
| 19 | g.15191861T>G | CA404532931 | NOTCH3 | c.686A>C (p.Glu229Ala) c.683A>C (p.Glu228Ala) | |
| 19 | g.15191862C>A | CA404532932 | NOTCH3 | c.685G>T (p.Glu229Ter) c.682G>T (p.Glu228Ter) | |
| 19 | g.15191862C= | CA2324749879 | NOTCH3 | c.685G= (p.Glu229=) c.682G= (p.Glu228=) | |
| 19 | g.15191862C>G | CA404532933 | NOTCH3 | c.685G>C (p.Glu229Gln) c.682G>C (p.Glu228Gln) | |
| 19 | g.15191862C>T | CA404532934 | NOTCH3 | c.685G>A (p.Glu229Lys) c.682G>A (p.Glu228Lys) | dbSNP |
| 19 | g.15191863A>C | CA404532937 | NOTCH3 | c.684T>G (p.Phe228Leu) c.681T>G (p.Phe227Leu) | |
| 19 | g.15191863A>G | CA506078605 | NOTCH3 | c.684T>C (p.Phe228=) c.681T>C (p.Phe227=) | |
| 19 | g.15191863A>T | CA404532938 | NOTCH3 | c.684T>A (p.Phe228Leu) c.681T>A (p.Phe227Leu) | |
| 19 | g.15191864A>C | CA404532942 | NOTCH3 | c.683T>G (p.Phe228Cys) c.680T>G (p.Phe227Cys) | |
| 19 | g.15191864A>G | CA404532943 | NOTCH3 | c.683T>C (p.Phe228Ser) c.680T>C (p.Phe227Ser) | |
| 19 | g.15191864A>T | CA404532945 | NOTCH3 | c.683T>A (p.Phe228Tyr) c.680T>A (p.Phe227Tyr) | |
| 19 | g.15191865A>C | CA404532946 | NOTCH3 | c.682T>G (p.Phe228Val) c.679T>G (p.Phe227Val) | |
| 19 | g.15191865A>G | CA404532948 | NOTCH3 | c.682T>C (p.Phe228Leu) c.679T>C (p.Phe227Leu) | |
| 19 | g.15191865A>T | CA404532949 | NOTCH3 | c.682T>A (p.Phe228Ile) c.679T>A (p.Phe227Ile) | |
| 19 | g.15191866C>A | CA506078606 | NOTCH3 | c.681G>T (p.Gly227=) c.678G>T (p.Gly226=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15191866C= | CA2324749880 | NOTCH3 | c.681G= (p.Gly227=) c.678G= (p.Gly226=) | |
| 19 | g.15191866C>G | CA506078607 | NOTCH3 | c.681G>C (p.Gly227=) c.678G>C (p.Gly226=) | |
| 19 | g.15191866C>T | CA506078608 | NOTCH3 | c.681G>A (p.Gly227=) c.678G>A (p.Gly226=) | |
| 19 | g.15191867C>A | CA404532952 | NOTCH3 | c.680G>T (p.Gly227Val) c.677G>T (p.Gly226Val) | |
| 19 | g.15191867C>G | CA404532953 | NOTCH3 | c.680G>C (p.Gly227Ala) c.677G>C (p.Gly226Ala) | |
| 19 | g.15191867C>T | CA404532956 | NOTCH3 | c.680G>A (p.Gly227Glu) c.677G>A (p.Gly226Glu) | |
| 19 | g.15191868C>A | CA404532958 | NOTCH3 | c.680-1G>T (n.680-1G>T) c.677-1G>T (n.677-1G>T) | |
| 19 | g.15191868C>G | CA404532960 | NOTCH3 | c.680-1G>C (n.680-1G>C) c.677-1G>C (n.677-1G>C) | |
| 19 | g.15191868C>T | CA404532963 | NOTCH3 | c.680-1G>A (n.680-1G>A) c.677-1G>A (n.677-1G>A) | |
| 19 | g.15191869T>A | CA404532967 | NOTCH3 | c.680-2A>T (n.680-2A>T) c.677-2A>T (n.677-2A>T) | |
| 19 | g.15191869T>C | CA404532966 | NOTCH3 | c.680-2A>G (n.680-2A>G) c.677-2A>G (n.677-2A>G) | |
| 19 | g.15191869T>G | CA404532964 | NOTCH3 | c.680-2A>C (n.680-2A>C) c.677-2A>C (n.677-2A>C) | |
| 19 | g.15191870A= | CA2324749881 | NOTCH3 | c.680-3T= (n.680-3T=) c.677-3T= (n.677-3T=) | |
| 19 | g.15191870A>G | CA632128098 | NOTCH3 | c.680-3T>C (n.680-3T>C) c.677-3T>C (n.677-3T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191871G>A | CA305777609 | NOTCH3 | c.680-4C>T (n.680-4C>T) c.677-4C>T (n.677-4C>T) | dbSNP |
| 19 | g.15191871G= | CA2324749882 | NOTCH3 | c.680-4C= (n.680-4C=) c.677-4C= (n.677-4C=) | |
| 19 | g.15191871dup | CA2583065573 | NOTCH3 | c.680-4dup (n.680-4dup) c.677-4dup (n.677-4dup) | gnomAD v4 |
| 19 | g.15191872C>G | CA2583065574 | NOTCH3 | c.680-5G>C (n.680-5G>C) c.677-5G>C (n.677-5G>C) | gnomAD v4 |
| 19 | g.15191872C>T | CA2583065575 | NOTCH3 | c.680-5G>A (n.680-5G>A) c.677-5G>A (n.677-5G>A) | gnomAD v4 |