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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.15192033_15192127delinsTGCACAGGGCACCGCGGGGTTCTCACATAGTGGCCCTGTGTAGCCAGCTGGACACTGGCAGCGGAAGGAGCCAGGTGTGTTGAGGCAGGTGCCAC | CA2324749964 | NOTCH3 | c.512_606delinsGTGGCACCTGCCTCAACACACCTGGCTCCTTCCGCTGCCAGTGTCCAGCTGGCTACACAGGGCCACTATGTGAGAACCCCGCGGTGCCCTGTGCA (p.Gly171=) c.509_603delinsGTGGCACCTGCCTCAACACACCTGGCTCCTTCCGCTGCCAGTGTCCAGCTGGCTACACAGGGCCACTATGTGAGAACCCCGCGGTGCCCTGTGCA (p.Gly170=) | |
| 19 | g.15192034_15192127delinsT | CA1139666341 | NOTCH3 | c.512_605delinsA (p.Gly171_Ala202delinsGlu) c.509_602delinsA (p.Gly170_Ala201delinsGlu) | ClinVar dbSNP |
| 19 | g.15192075G>A | CA506078717 | NOTCH3 | c.564C>T (p.Gly188=) c.561C>T (p.Gly187=) | |
| 19 | g.15192075G>C | CA506078718 | NOTCH3 | c.564C>G (p.Gly188=) c.561C>G (p.Gly187=) | |
| 19 | g.15192075G>T | CA506078720 | NOTCH3 | c.564C>A (p.Gly188=) c.561C>A (p.Gly187=) | |
| 19 | g.15192076C>A | CA404533544 | NOTCH3 | c.563G>T (p.Gly188Val) c.560G>T (p.Gly187Val) | gnomAD v4 |
| 19 | g.15192076C>G | CA404533546 | NOTCH3 | c.563G>C (p.Gly188Ala) c.560G>C (p.Gly187Ala) | |
| 19 | g.15192076C>T | CA404533547 | NOTCH3 | c.563G>A (p.Gly188Asp) c.560G>A (p.Gly187Asp) | |
| 19 | g.15192077C>A | CA404533550 | NOTCH3 | c.562G>T (p.Gly188Cys) c.559G>T (p.Gly187Cys) | |
| 19 | g.15192077C>G | CA404533552 | NOTCH3 | c.562G>C (p.Gly188Arg) c.559G>C (p.Gly187Arg) | |
| 19 | g.15192077C>T | CA404533553 | NOTCH3 | c.562G>A (p.Gly188Ser) c.559G>A (p.Gly187Ser) | |
| 19 | g.15192078A>C | CA506078723 | NOTCH3 | c.561T>G (p.Ala187=) c.558T>G (p.Ala186=) | |
| 19 | g.15192078A>G | CA506078724 | NOTCH3 | c.561T>C (p.Ala187=) c.558T>C (p.Ala186=) | |
| 19 | g.15192078A>T | CA506078725 | NOTCH3 | c.561T>A (p.Ala187=) c.558T>A (p.Ala186=) | |
| 19 | g.15192079G>A | CA404533556 | NOTCH3 | c.560C>T (p.Ala187Val) c.557C>T (p.Ala186Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15192079G>C | CA404533558 | NOTCH3 | c.560C>G (p.Ala187Gly) c.557C>G (p.Ala186Gly) | dbSNP |
| 19 | g.15192079G= | CA2324749984 | NOTCH3 | c.560C= (p.Ala187=) c.557C= (p.Ala186=) | |
| 19 | g.15192079G>T | CA404533560 | NOTCH3 | c.560C>A (p.Ala187Asp) c.557C>A (p.Ala186Asp) | gnomAD v4 |
| 19 | g.15192080C>A | CA404533563 | NOTCH3 | c.559G>T (p.Ala187Ser) c.556G>T (p.Ala186Ser) | dbSNP |
| 19 | g.15192080C>G | CA404533565 | NOTCH3 | c.559G>C (p.Ala187Pro) c.556G>C (p.Ala186Pro) | dbSNP |
| 19 | g.15192080C>T | CA404533568 | NOTCH3 | c.559G>A (p.Ala187Thr) c.556G>A (p.Ala186Thr) | dbSNP |
| 19 | g.15192081T>A | CA506078728 | NOTCH3 | c.558A>T (p.Pro186=) c.555A>T (p.Pro185=) | dbSNP |
| 19 | g.15192081T>C | CA506078729 | NOTCH3 | c.558A>G (p.Pro186=) c.555A>G (p.Pro185=) | |
| 19 | g.15192081T>G | CA506078730 | NOTCH3 | c.558A>C (p.Pro186=) c.555A>C (p.Pro185=) | dbSNP |
| 19 | g.15192082G>A | CA404533572 | NOTCH3 | c.557C>T (p.Pro186Leu) c.554C>T (p.Pro185Leu) | ClinVar dbSNP |
| 19 | g.15192082G>C | CA404533575 | NOTCH3 | c.557C>G (p.Pro186Arg) c.554C>G (p.Pro185Arg) | dbSNP |
| 19 | g.15192082G= | CA2324749985 | NOTCH3 | c.557C= (p.Pro186=) c.554C= (p.Pro185=) | |
| 19 | g.15192082G>T | CA404533570 | NOTCH3 | c.557C>A (p.Pro186Gln) c.554C>A (p.Pro185Gln) | |
| 19 | g.15192083G>A | CA404533580 | NOTCH3 | c.556C>T (p.Pro186Ser) c.553C>T (p.Pro185Ser) | gnomAD v4 |
| 19 | g.15192083G>C | CA404533577 | NOTCH3 | c.556C>G (p.Pro186Ala) c.553C>G (p.Pro185Ala) | dbSNP |
| 19 | g.15192083G>T | CA404533578 | NOTCH3 | c.556C>A (p.Pro186Thr) c.553C>A (p.Pro185Thr) | |
| 19 | g.15192084A= | CA2324749986 | NOTCH3 | c.555T= (p.Cys185=) c.552T= (p.Cys184=) | |
| 19 | g.15192084A>C | CA404533583 | NOTCH3 | c.555T>G (p.Cys185Trp) c.552T>G (p.Cys184Trp) | ClinVar dbSNP |
| 19 | g.15192084A>G | CA506078732 | NOTCH3 | c.555T>C (p.Cys185=) c.552T>C (p.Cys184=) | dbSNP |
| 19 | g.15192084A>T | CA404533585 | NOTCH3 | c.555T>A (p.Cys185Ter) c.552T>A (p.Cys184Ter) | |
| 19 | g.15192085C>A | CA404533588 | NOTCH3 | c.554G>T (p.Cys185Phe) c.551G>T (p.Cys184Phe) | ClinVar dbSNP |
| 19 | g.15192085C= | CA2324749987 | NOTCH3 | c.554G= (p.Cys185=) c.551G= (p.Cys184=) | |
| 19 | g.15192085C>G | CA404533589 | NOTCH3 | c.554G>C (p.Cys185Ser) c.551G>C (p.Cys184Ser) | dbSNP |
| 19 | g.15192085C>T | CA404533592 | NOTCH3 | c.554G>A (p.Cys185Tyr) c.551G>A (p.Cys184Tyr) | ClinVar dbSNP |
| 19 | g.15192086A= | CA2324749988 | NOTCH3 | c.553T= (p.Cys185=) c.550T= (p.Cys184=) | |
| 19 | g.15192086A>C | CA404533598 | NOTCH3 | c.553T>G (p.Cys185Gly) c.550T>G (p.Cys184Gly) | ClinVar dbSNP |
| 19 | g.15192086A>G | CA404533599 | NOTCH3 | c.553T>C (p.Cys185Arg) c.550T>C (p.Cys184Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15192086A>T | CA404533601 | NOTCH3 | c.553T>A (p.Cys185Ser) c.550T>A (p.Cys184Ser) | |
| 19 | g.15192087C>A | CA404533602 | NOTCH3 | c.552G>T (p.Gln184His) c.549G>T (p.Gln183His) | |
| 19 | g.15192087C>G | CA404533603 | NOTCH3 | c.552G>C (p.Gln184His) c.549G>C (p.Gln183His) | dbSNP |
| 19 | g.15192087C>T | CA506078736 | NOTCH3 | c.552G>A (p.Gln184=) c.549G>A (p.Gln183=) | dbSNP |
| 19 | g.15192088T>A | CA404533606 | NOTCH3 | c.551A>T (p.Gln184Leu) c.548A>T (p.Gln183Leu) | |
| 19 | g.15192088T>C | CA404533604 | NOTCH3 | c.551A>G (p.Gln184Arg) c.548A>G (p.Gln183Arg) | |
| 19 | g.15192088T>G | CA404533605 | NOTCH3 | c.551A>C (p.Gln184Pro) c.548A>C (p.Gln183Pro) | |
| 19 | g.15192089G>A | CA305777902 | NOTCH3 | c.550C>T (p.Gln184Ter) c.547C>T (p.Gln183Ter) | ClinVar dbSNP |
| 19 | g.15192089G>C | CA404533608 | NOTCH3 | c.550C>G (p.Gln184Glu) c.547C>G (p.Gln183Glu) | |
| 19 | g.15192089G= | CA2324749989 | NOTCH3 | c.550C= (p.Gln184=) c.547C= (p.Gln183=) | |
| 19 | g.15192089G>T | CA404533610 | NOTCH3 | c.550C>A (p.Gln184Lys) c.547C>A (p.Gln183Lys) | dbSNP |
| 19 | g.15192090G>A | CA506078738 | NOTCH3 | c.549C>T (p.Cys183=) c.546C>T (p.Cys182=) | |
| 19 | g.15192090G>C | CA404533612 | NOTCH3 | c.549C>G (p.Cys183Trp) c.546C>G (p.Cys182Trp) | |
| 19 | g.15192090G>T | CA404533614 | NOTCH3 | c.549C>A (p.Cys183Ter) c.546C>A (p.Cys182Ter) | |
| 19 | g.15192091C>A | CA404533618 | NOTCH3 | c.548G>T (p.Cys183Phe) c.545G>T (p.Cys182Phe) | ClinVar dbSNP |
| 19 | g.15192091C= | CA2324749990 | NOTCH3 | c.548G= (p.Cys183=) c.545G= (p.Cys182=) | |
| 19 | g.15192091C>G | CA404533619 | NOTCH3 | c.548G>C (p.Cys183Ser) c.545G>C (p.Cys182Ser) | |
| 19 | g.15192091C>T | CA404533621 | NOTCH3 | c.548G>A (p.Cys183Tyr) c.545G>A (p.Cys182Tyr) | ClinVar dbSNP |
| 19 | g.15192092A>C | CA404533623 | NOTCH3 | c.547T>G (p.Cys183Gly) c.544T>G (p.Cys182Gly) | |
| 19 | g.15192092A>G | CA404533625 | NOTCH3 | c.547T>C (p.Cys183Arg) c.544T>C (p.Cys182Arg) | ClinVar dbSNP |
| 19 | g.15192092A>T | CA404533627 | NOTCH3 | c.547T>A (p.Cys183Ser) c.544T>A (p.Cys182Ser) | ClinVar |
| 19 | g.15192093G>A | CA506078742 | NOTCH3 | c.546C>T (p.Arg182=) c.543C>T (p.Arg181=) | |
| 19 | g.15192093G>C | CA506078743 | NOTCH3 | c.546C>G (p.Arg182=) c.543C>G (p.Arg181=) | dbSNP |
| 19 | g.15192093G>T | CA506078744 | NOTCH3 | c.546C>A (p.Arg182=) c.543C>A (p.Arg181=) | |
| 19 | g.15192094C>A | CA9263862 | NOTCH3 | c.545G>T (p.Arg182Leu) c.542G>T (p.Arg181Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15192094C= | CA2324749991 | NOTCH3 | c.545G= (p.Arg182=) c.542G= (p.Arg181=) | |
| 19 | g.15192094C>G | CA404533632 | NOTCH3 | c.545G>C (p.Arg182Pro) c.542G>C (p.Arg181Pro) | dbSNP |
| 19 | g.15192094C>T | CA305777903 | NOTCH3 | c.545G>A (p.Arg182His) c.542G>A (p.Arg181His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.15192095G>A | CA340885 | NOTCH3 | c.544C>T (p.Arg182Cys) c.541C>T (p.Arg181Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192095G>C | CA404533636 | NOTCH3 | c.544C>G (p.Arg182Gly) c.541C>G (p.Arg181Gly) | |
| 19 | g.15192095G= | CA2324749992 | NOTCH3 | c.544C= (p.Arg182=) c.541C= (p.Arg181=) | |
| 19 | g.15192095G>T | CA404533638 | NOTCH3 | c.544C>A (p.Arg182Ser) c.541C>A (p.Arg181Ser) | |
| 19 | g.15192096G>A | CA506078749 | NOTCH3 | c.543C>T (p.Phe181=) c.540C>T (p.Phe180=) | |
| 19 | g.15192096G>C | CA404533641 | NOTCH3 | c.543C>G (p.Phe181Leu) c.540C>G (p.Phe180Leu) | |
| 19 | g.15192096G>T | CA404533644 | NOTCH3 | c.543C>A (p.Phe181Leu) c.540C>A (p.Phe180Leu) | |
| 19 | g.15192097A>C | CA404533650 | NOTCH3 | c.542T>G (p.Phe181Cys) c.539T>G (p.Phe180Cys) | |
| 19 | g.15192097A>G | CA404533648 | NOTCH3 | c.542T>C (p.Phe181Ser) c.539T>C (p.Phe180Ser) | dbSNP |
| 19 | g.15192097A>T | CA404533647 | NOTCH3 | c.542T>A (p.Phe181Tyr) c.539T>A (p.Phe180Tyr) | |
| 19 | g.15192098A>C | CA404533653 | NOTCH3 | c.541T>G (p.Phe181Val) c.538T>G (p.Phe180Val) | |
| 19 | g.15192098A>G | CA404533656 | NOTCH3 | c.541T>C (p.Phe181Leu) c.538T>C (p.Phe180Leu) | dbSNP |
| 19 | g.15192098A>T | CA404533658 | NOTCH3 | c.541T>A (p.Phe181Ile) c.538T>A (p.Phe180Ile) | |
| 19 | g.15192099G>A | CA506078753 | NOTCH3 | c.540C>T (p.Ser180=) c.537C>T (p.Ser179=) | |
| 19 | g.15192099G>C | CA506078754 | NOTCH3 | c.540C>G (p.Ser180=) c.537C>G (p.Ser179=) | |
| 19 | g.15192099G>T | CA506078755 | NOTCH3 | c.540C>A (p.Ser180=) c.537C>A (p.Ser179=) | |
| 19 | g.15192100G>A | CA404533661 | NOTCH3 | c.539C>T (p.Ser180Phe) c.536C>T (p.Ser179Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15192100G>C | CA404533662 | NOTCH3 | c.539C>G (p.Ser180Cys) c.536C>G (p.Ser179Cys) | |
| 19 | g.15192100G= | CA2324749993 | NOTCH3 | c.539C= (p.Ser180=) c.536C= (p.Ser179=) | |
| 19 | g.15192100G>T | CA404533663 | NOTCH3 | c.539C>A (p.Ser180Tyr) c.536C>A (p.Ser179Tyr) | |
| 19 | g.15192101A>C | CA404533666 | NOTCH3 | c.538T>G (p.Ser180Ala) c.535T>G (p.Ser179Ala) | |
| 19 | g.15192101A>G | CA404533669 | NOTCH3 | c.538T>C (p.Ser180Pro) c.535T>C (p.Ser179Pro) | |
| 19 | g.15192101A>T | CA404533667 | NOTCH3 | c.538T>A (p.Ser180Thr) c.535T>A (p.Ser179Thr) | gnomAD v4 |
| 19 | g.15192102G>A | CA506078757 | NOTCH3 | c.537C>T (p.Gly179=) c.534C>T (p.Gly178=) | |
| 19 | g.15192102G>C | CA506078758 | NOTCH3 | c.537C>G (p.Gly179=) c.534C>G (p.Gly178=) | |
| 19 | g.15192102G>T | CA506078759 | NOTCH3 | c.537C>A (p.Gly179=) c.534C>A (p.Gly178=) | |
| 19 | g.15192103C>A | CA9263863 | NOTCH3 | c.536G>T (p.Gly179Val) c.533G>T (p.Gly178Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192103C= | CA2324749994 | NOTCH3 | c.536G= (p.Gly179=) c.533G= (p.Gly178=) | |
| 19 | g.15192103C>G | CA404533673 | NOTCH3 | c.536G>C (p.Gly179Ala) c.533G>C (p.Gly178Ala) | |
| 19 | g.15192103C>T | CA404533674 | NOTCH3 | c.536G>A (p.Gly179Asp) c.533G>A (p.Gly178Asp) | dbSNP gnomAD v4 |
| 19 | g.15192104C>A | CA404533676 | NOTCH3 | c.535G>T (p.Gly179Cys) c.532G>T (p.Gly178Cys) | |
| 19 | g.15192104C>G | CA404533677 | NOTCH3 | c.535G>C (p.Gly179Arg) c.532G>C (p.Gly178Arg) | |
| 19 | g.15192104C>T | CA404533678 | NOTCH3 | c.535G>A (p.Gly179Ser) c.532G>A (p.Gly178Ser) | |
| 19 | g.15192105A>C | CA506078763 | NOTCH3 | c.534T>G (p.Pro178=) c.531T>G (p.Pro177=) | dbSNP |
| 19 | g.15192105A>G | CA506078764 | NOTCH3 | c.534T>C (p.Pro178=) c.531T>C (p.Pro177=) | |
| 19 | g.15192105A>T | CA506078765 | NOTCH3 | c.534T>A (p.Pro178=) c.531T>A (p.Pro177=) | |
| 19 | g.15192106G>A | CA404533681 | NOTCH3 | c.533C>T (p.Pro178Leu) c.530C>T (p.Pro177Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192106G>C | CA9263864 | NOTCH3 | c.533C>G (p.Pro178Arg) c.530C>G (p.Pro177Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15192106G= | CA2324749995 | NOTCH3 | c.533C= (p.Pro178=) c.530C= (p.Pro177=) | |
| 19 | g.15192106G>T | CA404533684 | NOTCH3 | c.533C>A (p.Pro178His) c.530C>A (p.Pro177His) | dbSNP gnomAD v2 |
| 19 | g.15192107G>A | CA404533685 | NOTCH3 | c.532C>T (p.Pro178Ser) c.529C>T (p.Pro177Ser) | |
| 19 | g.15192107G>C | CA404533686 | NOTCH3 | c.532C>G (p.Pro178Ala) c.529C>G (p.Pro177Ala) | dbSNP |
| 19 | g.15192107G>T | CA404533688 | NOTCH3 | c.532C>A (p.Pro178Thr) c.529C>A (p.Pro177Thr) | |
| 19 | g.15192107_15192108delinsAA | CA2573156096 | NOTCH3 | c.531_532delinsTT (p.Pro178Ser) c.528_529delinsTT (p.Pro177Ser) | ClinVar dbSNP |
| 19 | g.15192111_15192112del | CA2583065622 | NOTCH3 | c.531_532del (p.Pro178TrpfsTer17) c.528_529del (p.Pro177TrpfsTer17) | gnomAD v4 |
| 19 | g.15192108T>A | CA506078767 | NOTCH3 | c.531A>T (p.Thr177=) c.528A>T (p.Thr176=) | dbSNP |
| 19 | g.15192108T>C | CA506078769 | NOTCH3 | c.531A>G (p.Thr177=) c.528A>G (p.Thr176=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15192108T>G | CA506078771 | NOTCH3 | c.531A>C (p.Thr177=) c.528A>C (p.Thr176=) | |
| 19 | g.15192108T= | CA2324749996 | NOTCH3 | c.531A= (p.Thr177=) c.528A= (p.Thr176=) | |
| 19 | g.15192109G>A | CA305777913 | NOTCH3 | c.530C>T (p.Thr177Ile) c.527C>T (p.Thr176Ile) | ClinVar dbSNP |
| 19 | g.15192109G>C | CA404533692 | NOTCH3 | c.530C>G (p.Thr177Arg) c.527C>G (p.Thr176Arg) | |
| 19 | g.15192109G= | CA2324749997 | NOTCH3 | c.530C= (p.Thr177=) c.527C= (p.Thr176=) | |
| 19 | g.15192109G>T | CA404533690 | NOTCH3 | c.530C>A (p.Thr177Lys) c.527C>A (p.Thr176Lys) | |
| 19 | g.15192110T>A | CA404533698 | NOTCH3 | c.529A>T (p.Thr177Ser) c.526A>T (p.Thr176Ser) | |
| 19 | g.15192110T>C | CA404533700 | NOTCH3 | c.529A>G (p.Thr177Ala) c.526A>G (p.Thr176Ala) | |
| 19 | g.15192110T>G | CA404533702 | NOTCH3 | c.529A>C (p.Thr177Pro) c.526A>C (p.Thr176Pro) | |
| 19 | g.15192111G>A | CA506078775 | NOTCH3 | c.528C>T (p.Asn176=) c.525C>T (p.Asn175=) | gnomAD v4 |
| 19 | g.15192111G>C | CA404533704 | NOTCH3 | c.528C>G (p.Asn176Lys) c.525C>G (p.Asn175Lys) | |
| 19 | g.15192111G>T | CA404533707 | NOTCH3 | c.528C>A (p.Asn176Lys) c.525C>A (p.Asn175Lys) | |
| 19 | g.15192112T>A | CA404533709 | NOTCH3 | c.527A>T (p.Asn176Ile) c.524A>T (p.Asn175Ile) | dbSNP |
| 19 | g.15192112T>C | CA404533711 | NOTCH3 | c.527A>G (p.Asn176Ser) c.524A>G (p.Asn175Ser) | |
| 19 | g.15192112T>G | CA404533713 | NOTCH3 | c.527A>C (p.Asn176Thr) c.524A>C (p.Asn175Thr) | |
| 19 | g.15192113T>A | CA404533716 | NOTCH3 | c.526A>T (p.Asn176Tyr) c.523A>T (p.Asn175Tyr) | |
| 19 | g.15192113T>C | CA404533718 | NOTCH3 | c.526A>G (p.Asn176Asp) c.523A>G (p.Asn175Asp) | gnomAD v4 |
| 19 | g.15192113T>G | CA404533719 | NOTCH3 | c.526A>C (p.Asn176His) c.523A>C (p.Asn175His) | |
| 19 | g.15192114G>A | CA506078805 | NOTCH3 | c.525C>T (p.Leu175=) c.522C>T (p.Leu174=) | |
| 19 | g.15192114G>C | CA506078806 | NOTCH3 | c.525C>G (p.Leu175=) c.522C>G (p.Leu174=) | dbSNP |
| 19 | g.15192114G>T | CA506078807 | NOTCH3 | c.525C>A (p.Leu175=) c.522C>A (p.Leu174=) | |
| 19 | g.15192114_15192118delinsAAGCA | CA2695228453 | NOTCH3 | c.521_525delinsTGCTT (p.Cys174Leu) c.518_522delinsTGCTT (p.Cys173Leu) | |
| 19 | g.15192115A>C | CA404533721 | NOTCH3 | c.524T>G (p.Leu175Arg) c.521T>G (p.Leu174Arg) | |
| 19 | g.15192115A>G | CA404533724 | NOTCH3 | c.524T>C (p.Leu175Pro) c.521T>C (p.Leu174Pro) | dbSNP |
| 19 | g.15192115A>T | CA404533726 | NOTCH3 | c.524T>A (p.Leu175His) c.521T>A (p.Leu174His) | dbSNP |
| 19 | g.15192116G>A | CA404533731 | NOTCH3 | c.523C>T (p.Leu175Phe) c.520C>T (p.Leu174Phe) | |
| 19 | g.15192116G>C | CA404533729 | NOTCH3 | c.523C>G (p.Leu175Val) c.520C>G (p.Leu174Val) | dbSNP |
| 19 | g.15192116G>T | CA404533728 | NOTCH3 | c.523C>A (p.Leu175Ile) c.520C>A (p.Leu174Ile) | |
| 19 | g.15192117G>A | CA506078808 | NOTCH3 | c.522C>T (p.Cys174=) c.519C>T (p.Cys173=) | gnomAD v4 |
| 19 | g.15192117G>C | CA404533733 | NOTCH3 | c.522C>G (p.Cys174Trp) c.519C>G (p.Cys173Trp) | dbSNP |
| 19 | g.15192117G>T | CA404533734 | NOTCH3 | c.522C>A (p.Cys174Ter) c.519C>A (p.Cys173Ter) | |
| 19 | g.15192117_15192118delinsCA | CA2695228454 | NOTCH3 | c.521_522delinsTG (p.Cys174Leu) c.518_519delinsTG (p.Cys173Leu) | |
| 19 | g.15192118C>A | CA404533735 | NOTCH3 | c.521G>T (p.Cys174Phe) c.518G>T (p.Cys173Phe) | ClinVar dbSNP |
| 19 | g.15192118C= | CA2324749998 | NOTCH3 | c.521G= (p.Cys174=) c.518G= (p.Cys173=) | |
| 19 | g.15192118C>G | CA404533738 | NOTCH3 | c.521G>C (p.Cys174Ser) c.518G>C (p.Cys173Ser) | ClinVar dbSNP |
| 19 | g.15192118C>T | CA404533739 | NOTCH3 | c.521G>A (p.Cys174Tyr) c.518G>A (p.Cys173Tyr) | ClinVar dbSNP |
| 19 | g.15192119A= | CA2324749999 | NOTCH3 | c.520T= (p.Cys174=) c.517T= (p.Cys173=) | |
| 19 | g.15192119A>C | CA404533741 | NOTCH3 | c.520T>G (p.Cys174Gly) c.517T>G (p.Cys173Gly) | |
| 19 | g.15192119A>G | CA404533742 | NOTCH3 | c.520T>C (p.Cys174Arg) c.517T>C (p.Cys173Arg) | ClinVar dbSNP |
| 19 | g.15192119A>T | CA404533744 | NOTCH3 | c.520T>A (p.Cys174Ser) c.517T>A (p.Cys173Ser) | ClinVar dbSNP |
| 19 | g.15192120G>A | CA506078809 | NOTCH3 | c.519C>T (p.Thr173=) c.516C>T (p.Thr172=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192120G>C | CA506078810 | NOTCH3 | c.519C>G (p.Thr173=) c.516C>G (p.Thr172=) | |
| 19 | g.15192120G= | CA2324750000 | NOTCH3 | c.519C= (p.Thr173=) c.516C= (p.Thr172=) | |
| 19 | g.15192120G>T | CA506078811 | NOTCH3 | c.519C>A (p.Thr173=) c.516C>A (p.Thr172=) | dbSNP gnomAD v4 |
| 19 | g.15192121G>A | CA404533746 | NOTCH3 | c.518C>T (p.Thr173Ile) c.515C>T (p.Thr172Ile) | dbSNP gnomAD v4 |
| 19 | g.15192121G>C | CA404533747 | NOTCH3 | c.518C>G (p.Thr173Ser) c.515C>G (p.Thr172Ser) | dbSNP |
| 19 | g.15192121G= | CA2324750001 | NOTCH3 | c.518C= (p.Thr173=) c.515C= (p.Thr172=) | |
| 19 | g.15192121G>T | CA404533752 | NOTCH3 | c.518C>A (p.Thr173Asn) c.515C>A (p.Thr172Asn) | |
| 19 | g.15192122T>A | CA404533755 | NOTCH3 | c.517A>T (p.Thr173Ser) c.514A>T (p.Thr172Ser) | gnomAD v4 |
| 19 | g.15192122T>C | CA404533758 | NOTCH3 | c.517A>G (p.Thr173Ala) c.514A>G (p.Thr172Ala) | |
| 19 | g.15192122T>G | CA305777922 | NOTCH3 | c.517A>C (p.Thr173Pro) c.514A>C (p.Thr172Pro) | dbSNP gnomAD v4 |
| 19 | g.15192122T= | CA2324750002 | NOTCH3 | c.517A= (p.Thr173=) c.514A= (p.Thr172=) | |
| 19 | g.15192123G>A | CA506078814 | NOTCH3 | c.516C>T (p.Gly172=) c.513C>T (p.Gly171=) | dbSNP gnomAD v4 |
| 19 | g.15192123G>C | CA506078815 | NOTCH3 | c.516C>G (p.Gly172=) c.513C>G (p.Gly171=) | dbSNP |
| 19 | g.15192123G>T | CA506078817 | NOTCH3 | c.516C>A (p.Gly172=) c.513C>A (p.Gly171=) | |
| 19 | g.15192124C>A | CA404533769 | NOTCH3 | c.515G>T (p.Gly172Val) c.512G>T (p.Gly171Val) | |
| 19 | g.15192124C= | CA2324750003 | NOTCH3 | c.515G= (p.Gly172=) c.512G= (p.Gly171=) | |
| 19 | g.15192124C>G | CA404533771 | NOTCH3 | c.515G>C (p.Gly172Ala) c.512G>C (p.Gly171Ala) | dbSNP |
| 19 | g.15192124C>T | CA9263865 | NOTCH3 | c.515G>A (p.Gly172Asp) c.512G>A (p.Gly171Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15192125C>A | CA404533774 | NOTCH3 | c.514G>T (p.Gly172Cys) c.511G>T (p.Gly171Cys) | |
| 19 | g.15192125C>G | CA404533776 | NOTCH3 | c.514G>C (p.Gly172Arg) c.511G>C (p.Gly171Arg) | |
| 19 | g.15192125C>T | CA404533778 | NOTCH3 | c.514G>A (p.Gly172Ser) c.511G>A (p.Gly171Ser) | gnomAD v4 |
| 19 | g.15192126A= | CA2324750004 | NOTCH3 | c.513T= (p.Gly171=) c.510T= (p.Gly170=) | |
| 19 | g.15192126A>C | CA506078820 | NOTCH3 | c.513T>G (p.Gly171=) c.510T>G (p.Gly170=) | dbSNP |
| 19 | g.15192126A>G | CA506078821 | NOTCH3 | c.513T>C (p.Gly171=) c.510T>C (p.Gly170=) | |
| 19 | g.15192126A>T | CA506078822 | NOTCH3 | c.513T>A (p.Gly171=) c.510T>A (p.Gly170=) | |
| 19 | g.15192127C>A | CA404533780 | NOTCH3 | c.512G>T (p.Gly171Val) c.509G>T (p.Gly170Val) | dbSNP |
| 19 | g.15192127C>G | CA404533783 | NOTCH3 | c.512G>C (p.Gly171Ala) c.509G>C (p.Gly170Ala) | |
| 19 | g.15192127C>T | CA404533784 | NOTCH3 | c.512G>A (p.Gly171Asp) c.509G>A (p.Gly170Asp) | gnomAD v4 |
| 19 | g.15192128C>A | CA404533787 | NOTCH3 | c.511G>T (p.Gly171Cys) c.508G>T (p.Gly170Cys) | dbSNP |
| 19 | g.15192128C= | CA2324750005 | NOTCH3 | c.511G= (p.Gly171=) c.508G= (p.Gly170=) | |
| 19 | g.15192128C>G | CA9263866 | NOTCH3 | c.511G>C (p.Gly171Arg) c.508G>C (p.Gly170Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15192128C>T | CA404533785 | NOTCH3 | c.511G>A (p.Gly171Ser) c.508G>A (p.Gly170Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192129A>C | CA404533791 | NOTCH3 | c.510T>G (p.His170Gln) c.507T>G (p.His169Gln) | dbSNP |
| 19 | g.15192129A>G | CA506078825 | NOTCH3 | c.510T>C (p.His170=) c.507T>C (p.His169=) | dbSNP |
| 19 | g.15192129A>T | CA404533793 | NOTCH3 | c.510T>A (p.His170Gln) c.507T>A (p.His169Gln) | |
| 19 | g.15192130T>A | CA404533794 | NOTCH3 | c.509A>T (p.His170Leu) c.506A>T (p.His169Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192130T>C | CA9263867 | NOTCH3 | c.509A>G (p.His170Arg) c.506A>G (p.His169Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192130T>G | CA404533798 | NOTCH3 | c.509A>C (p.His170Pro) c.506A>C (p.His169Pro) | |
| 19 | g.15192130T= | CA2324750006 | NOTCH3 | c.509A= (p.His170=) c.506A= (p.His169=) | |
| 19 | g.15192131G>A | CA404533800 | NOTCH3 | c.508C>T (p.His170Tyr) c.505C>T (p.His169Tyr) | gnomAD v4 |
| 19 | g.15192131G>C | CA404533803 | NOTCH3 | c.508C>G (p.His170Asp) c.505C>G (p.His169Asp) | dbSNP |
| 19 | g.15192131G>T | CA404533801 | NOTCH3 | c.508C>A (p.His170Asn) c.505C>A (p.His169Asn) | gnomAD v4 |
| 19 | g.15192132G>A | CA506078829 | NOTCH3 | c.507C>T (p.Arg169=) c.504C>T (p.Arg168=) | dbSNP |
| 19 | g.15192132G>C | CA506078831 | NOTCH3 | c.507C>G (p.Arg169=) c.504C>G (p.Arg168=) | dbSNP |
| 19 | g.15192132G>T | CA506078833 | NOTCH3 | c.507C>A (p.Arg169=) c.504C>A (p.Arg168=) | |
| 19 | g.15192133C>A | CA404533804 | NOTCH3 | c.506G>T (p.Arg169Leu) c.503G>T (p.Arg168Leu) | gnomAD v4 |
| 19 | g.15192133C= | CA2324750007 | NOTCH3 | c.506G= (p.Arg169=) c.503G= (p.Arg168=) | |
| 19 | g.15192133C>G | CA404533805 | NOTCH3 | c.506G>C (p.Arg169Pro) c.503G>C (p.Arg168Pro) | |
| 19 | g.15192133C>T | CA9263868 | NOTCH3 | c.506G>A (p.Arg169His) c.503G>A (p.Arg168His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192134G>A | CA340884 | NOTCH3 | c.505C>T (p.Arg169Cys) c.502C>T (p.Arg168Cys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.15192134G>C | CA404533808 | NOTCH3 | c.505C>G (p.Arg169Gly) c.502C>G (p.Arg168Gly) | dbSNP |
| 19 | g.15192134G= | CA2324750008 | NOTCH3 | c.505C= (p.Arg169=) c.502C= (p.Arg168=) | |
| 19 | g.15192134G>T | CA404533810 | NOTCH3 | c.505C>A (p.Arg169Ser) c.502C>A (p.Arg168Ser) | |
| 19 | g.15192135G>A | CA506078835 | NOTCH3 | c.504C>T (p.Cys168=) c.501C>T (p.Cys167=) | dbSNP gnomAD v4 |
| 19 | g.15192135G>C | CA404533811 | NOTCH3 | c.504C>G (p.Cys168Trp) c.501C>G (p.Cys167Trp) | |
| 19 | g.15192135G>T | CA404533813 | NOTCH3 | c.504C>A (p.Cys168Ter) c.501C>A (p.Cys167Ter) | |
| 19 | g.15192136C>A | CA404533814 | NOTCH3 | c.503G>T (p.Cys168Phe) c.500G>T (p.Cys167Phe) | dbSNP |
| 19 | g.15192136C>G | CA404533816 | NOTCH3 | c.503G>C (p.Cys168Ser) c.500G>C (p.Cys167Ser) | dbSNP |
| 19 | g.15192136C>T | CA404533817 | NOTCH3 | c.503G>A (p.Cys168Tyr) c.500G>A (p.Cys167Tyr) | ClinVar dbSNP |
| 19 | g.15192137A= | CA2324750009 | NOTCH3 | c.502T= (p.Cys168=) c.499T= (p.Cys167=) | |
| 19 | g.15192137A>C | CA404533818 | NOTCH3 | c.502T>G (p.Cys168Gly) c.499T>G (p.Cys167Gly) | |
| 19 | g.15192137A>G | CA404533822 | NOTCH3 | c.502T>C (p.Cys168Arg) c.499T>C (p.Cys167Arg) | dbSNP |
| 19 | g.15192137A>T | CA404533820 | NOTCH3 | c.502T>A (p.Cys168Ser) c.499T>A (p.Cys167Ser) | ClinVar |
| 19 | g.15192138G>A | CA305777951 | NOTCH3 | c.501C>T (p.Pro167=) c.498C>T (p.Pro166=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15192138G>C | CA506078840 | NOTCH3 | c.501C>G (p.Pro167=) c.498C>G (p.Pro166=) | |
| 19 | g.15192138G= | CA2324750010 | NOTCH3 | c.501C= (p.Pro167=) c.498C= (p.Pro166=) | |
| 19 | g.15192138G>T | CA9263869 | NOTCH3 | c.501C>A (p.Pro167=) c.498C>A (p.Pro166=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15192139G>A | CA404533828 | NOTCH3 | c.500C>T (p.Pro167Leu) c.497C>T (p.Pro166Leu) | gnomAD v4 |
| 19 | g.15192139G>C | CA404533824 | NOTCH3 | c.500C>G (p.Pro167Arg) c.497C>G (p.Pro166Arg) | |
| 19 | g.15192139G>T | CA404533825 | NOTCH3 | c.500C>A (p.Pro167His) c.497C>A (p.Pro166His) | |
| 19 | g.15192140G>A | CA9263870 | NOTCH3 | c.499C>T (p.Pro167Ser) c.496C>T (p.Pro166Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.15192140G>C | CA404533830 | NOTCH3 | c.499C>G (p.Pro167Ala) c.496C>G (p.Pro166Ala) | |
| 19 | g.15192140G= | CA2324750011 | NOTCH3 | c.499C= (p.Pro167=) c.496C= (p.Pro166=) | |
| 19 | g.15192140G>T | CA404533831 | NOTCH3 | c.499C>A (p.Pro167Thr) c.496C>A (p.Pro166Thr) | |
| 19 | g.15192141C>A | CA404533833 | NOTCH3 | c.498G>T (p.Glu166Asp) c.495G>T (p.Glu165Asp) | dbSNP |
| 19 | g.15192141C>G | CA404533834 | NOTCH3 | c.498G>C (p.Glu166Asp) c.495G>C (p.Glu165Asp) | dbSNP |
| 19 | g.15192141C>T | CA506078841 | NOTCH3 | c.498G>A (p.Glu166=) c.495G>A (p.Glu165=) | gnomAD v4 |
| 19 | g.15192142T>A | CA404533836 | NOTCH3 | c.497A>T (p.Glu166Val) c.494A>T (p.Glu165Val) | dbSNP |
| 19 | g.15192142T>C | CA404533838 | NOTCH3 | c.497A>G (p.Glu166Gly) c.494A>G (p.Glu165Gly) | dbSNP |
| 19 | g.15192142T>G | CA404533839 | NOTCH3 | c.497A>C (p.Glu166Ala) c.494A>C (p.Glu165Ala) | |
| 19 | g.15192143C>A | CA404533842 | NOTCH3 | c.496G>T (p.Glu166Ter) c.493G>T (p.Glu165Ter) | dbSNP |
| 19 | g.15192143C>G | CA404533841 | NOTCH3 | c.496G>C (p.Glu166Gln) c.493G>C (p.Glu165Gln) | |
| 19 | g.15192143C>T | CA404533840 | NOTCH3 | c.496G>A (p.Glu166Lys) c.493G>A (p.Glu165Lys) | gnomAD v4 |
| 19 | g.15192144A= | CA2324750012 | NOTCH3 | c.495T= (p.Gly165=) c.492T= (p.Gly164=) | |
| 19 | g.15192144A>C | CA506078845 | NOTCH3 | c.495T>G (p.Gly165=) c.492T>G (p.Gly164=) | dbSNP |
| 19 | g.15192144A>G | CA506078847 | NOTCH3 | c.495T>C (p.Gly165=) c.492T>C (p.Gly164=) | |
| 19 | g.15192144A>T | CA506078846 | NOTCH3 | c.495T>A (p.Gly165=) c.492T>A (p.Gly164=) | |
| 19 | g.15192145C>A | CA404533843 | NOTCH3 | c.494G>T (p.Gly165Val) c.491G>T (p.Gly164Val) | gnomAD v4 |
| 19 | g.15192145C>G | CA404533844 | NOTCH3 | c.494G>C (p.Gly165Ala) c.491G>C (p.Gly164Ala) | |
| 19 | g.15192145C>T | CA404533845 | NOTCH3 | c.494G>A (p.Gly165Asp) c.491G>A (p.Gly164Asp) | dbSNP |
| 19 | g.15192146C>A | CA404533846 | NOTCH3 | c.493G>T (p.Gly165Cys) c.490G>T (p.Gly164Cys) | dbSNP |
| 19 | g.15192146C= | CA2324750013 | NOTCH3 | c.493G= (p.Gly165=) c.490G= (p.Gly164=) | |
| 19 | g.15192146C>G | CA9263871 | NOTCH3 | c.493G>C (p.Gly165Arg) c.490G>C (p.Gly164Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15192146C>T | CA404533847 | NOTCH3 | c.493G>A (p.Gly165Ser) c.490G>A (p.Gly164Ser) | |
| 19 | g.15192147C>A | CA506078851 | NOTCH3 | c.492G>T (p.Val164=) c.489G>T (p.Val163=) | |
| 19 | g.15192147C>G | CA506078852 | NOTCH3 | c.492G>C (p.Val164=) c.489G>C (p.Val163=) | dbSNP gnomAD v4 |
| 19 | g.15192147C>T | CA506078853 | NOTCH3 | c.492G>A (p.Val164=) c.489G>A (p.Val163=) | |
| 19 | g.15192148A= | CA2324750014 | NOTCH3 | c.491T= (p.Val164=) c.488T= (p.Val163=) | |
| 19 | g.15192148A>C | CA404533848 | NOTCH3 | c.491T>G (p.Val164Gly) c.488T>G (p.Val163Gly) | dbSNP |
| 19 | g.15192148A>G | CA404533849 | NOTCH3 | c.491T>C (p.Val164Ala) c.488T>C (p.Val163Ala) | gnomAD v4 |
| 19 | g.15192148A>T | CA404533850 | NOTCH3 | c.491T>A (p.Val164Glu) c.488T>A (p.Val163Glu) | dbSNP |
| 19 | g.15192149C>A | CA404533851 | NOTCH3 | c.490G>T (p.Val164Leu) c.487G>T (p.Val163Leu) | |
| 19 | g.15192149C= | CA2324750015 | NOTCH3 | c.490G= (p.Val164=) c.487G= (p.Val163=) | |
| 19 | g.15192149C>G | CA404533852 | NOTCH3 | c.490G>C (p.Val164Leu) c.487G>C (p.Val163Leu) | |
| 19 | g.15192149C>T | CA404533853 | NOTCH3 | c.490G>A (p.Val164Met) c.487G>A (p.Val163Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192150C>A | CA506078855 | NOTCH3 | c.489G>T (p.Arg163=) c.486G>T (p.Arg162=) | dbSNP |
| 19 | g.15192150C= | CA2324750016 | NOTCH3 | c.489G= (p.Arg163=) c.486G= (p.Arg162=) | |
| 19 | g.15192150C>G | CA506078857 | NOTCH3 | c.489G>C (p.Arg163=) c.486G>C (p.Arg162=) | |
| 19 | g.15192150C>T | CA506078858 | NOTCH3 | c.489G>A (p.Arg163=) c.486G>A (p.Arg162=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192151C>A | CA404533854 | NOTCH3 | c.488G>T (p.Arg163Leu) c.485G>T (p.Arg162Leu) | |
| 19 | g.15192151C= | CA2324750017 | NOTCH3 | c.488G= (p.Arg163=) c.485G= (p.Arg162=) | |
| 19 | g.15192151C>G | CA404533855 | NOTCH3 | c.488G>C (p.Arg163Pro) c.485G>C (p.Arg162Pro) | dbSNP |
| 19 | g.15192151C>T | CA9263872 | NOTCH3 | c.488G>A (p.Arg163Gln) c.485G>A (p.Arg162Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.15192152G>A | CA9263873 | NOTCH3 | c.487C>T (p.Arg163Trp) c.484C>T (p.Arg162Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192152G>C | CA404533858 | NOTCH3 | c.487C>G (p.Arg163Gly) c.484C>G (p.Arg162Gly) | dbSNP |
| 19 | g.15192152G= | CA2324750018 | NOTCH3 | c.487C= (p.Arg163=) c.484C= (p.Arg162=) | |
| 19 | g.15192152G>T | CA506078860 | NOTCH3 | c.487C>A (p.Arg163=) c.484C>A (p.Arg162=) | |
| 19 | g.15192153G>A | CA506078862 | NOTCH3 | c.486C>T (p.Cys162=) c.483C>T (p.Cys161=) | dbSNP gnomAD v4 |
| 19 | g.15192153G>C | CA404533859 | NOTCH3 | c.486C>G (p.Cys162Trp) c.483C>G (p.Cys161Trp) | dbSNP |
| 19 | g.15192153G>T | CA404533861 | NOTCH3 | c.486C>A (p.Cys162Ter) c.483C>A (p.Cys161Ter) | |
| 19 | g.15192154C>A | CA404533862 | NOTCH3 | c.485G>T (p.Cys162Phe) c.482G>T (p.Cys161Phe) | ClinVar dbSNP |
| 19 | g.15192154C>G | CA404533863 | NOTCH3 | c.485G>C (p.Cys162Ser) c.482G>C (p.Cys161Ser) | |
| 19 | g.15192154C>T | CA404533865 | NOTCH3 | c.485G>A (p.Cys162Tyr) c.482G>A (p.Cys161Tyr) | |
| 19 | g.15192155A>C | CA404533867 | NOTCH3 | c.484T>G (p.Cys162Gly) c.481T>G (p.Cys161Gly) | ClinVar dbSNP |
| 19 | g.15192155A>G | CA404533869 | NOTCH3 | c.484T>C (p.Cys162Arg) c.481T>C (p.Cys161Arg) | ClinVar dbSNP gnomAD v4 |
| 19 | g.15192155A>T | CA404533870 | NOTCH3 | c.484T>A (p.Cys162Ser) c.481T>A (p.Cys161Ser) | dbSNP |
| 19 | g.15192156C>A | CA404533871 | NOTCH3 | c.483G>T (p.Glu161Asp) c.480G>T (p.Glu160Asp) | |
| 19 | g.15192156C= | CA2324750019 | NOTCH3 | c.483G= (p.Glu161=) c.480G= (p.Glu160=) | |
| 19 | g.15192156C>G | CA404533872 | NOTCH3 | c.483G>C (p.Glu161Asp) c.480G>C (p.Glu160Asp) | dbSNP gnomAD v4 |
| 19 | g.15192156C>T | CA506078864 | NOTCH3 | c.483G>A (p.Glu161=) c.480G>A (p.Glu160=) | gnomAD v4 |
| 19 | g.15192157T>A | CA404533876 | NOTCH3 | c.482A>T (p.Glu161Val) c.479A>T (p.Glu160Val) | dbSNP |
| 19 | g.15192157T>C | CA404533877 | NOTCH3 | c.482A>G (p.Glu161Gly) c.479A>G (p.Glu160Gly) | |
| 19 | g.15192157T>G | CA404533875 | NOTCH3 | c.482A>C (p.Glu161Ala) c.479A>C (p.Glu160Ala) | |
| 19 | g.15192158C>A | CA404533879 | NOTCH3 | c.481G>T (p.Glu161Ter) c.478G>T (p.Glu160Ter) | |
| 19 | g.15192158C>G | CA404533880 | NOTCH3 | c.481G>C (p.Glu161Gln) c.478G>C (p.Glu160Gln) | |
| 19 | g.15192158C>T | CA404533882 | NOTCH3 | c.481G>A (p.Glu161Lys) c.478G>A (p.Glu160Lys) | |
| 19 | g.15192159A>C | CA404533883 | NOTCH3 | c.480T>G (p.Asp160Glu) c.477T>G (p.Asp159Glu) | dbSNP |
| 19 | g.15192159A>G | CA506078867 | NOTCH3 | c.480T>C (p.Asp160=) c.477T>C (p.Asp159=) | dbSNP |
| 19 | g.15192159A>T | CA404533885 | NOTCH3 | c.480T>A (p.Asp160Glu) c.477T>A (p.Asp159Glu) | |
| 19 | g.15192160T>A | CA404533888 | NOTCH3 | c.479A>T (p.Asp160Val) c.476A>T (p.Asp159Val) | gnomAD v4 |
| 19 | g.15192160T>C | CA9263874 | NOTCH3 | c.479A>G (p.Asp160Gly) c.476A>G (p.Asp159Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192160T>G | CA404533886 | NOTCH3 | c.479A>C (p.Asp160Ala) c.476A>C (p.Asp159Ala) | |
| 19 | g.15192160T= | CA2324750020 | NOTCH3 | c.479A= (p.Asp160=) c.476A= (p.Asp159=) | |
| 19 | g.15192161C>A | CA404533890 | NOTCH3 | c.478G>T (p.Asp160Tyr) c.475G>T (p.Asp159Tyr) | dbSNP |
| 19 | g.15192161C>G | CA404533891 | NOTCH3 | c.478G>C (p.Asp160His) c.475G>C (p.Asp159His) | |
| 19 | g.15192161C>T | CA404533893 | NOTCH3 | c.478G>A (p.Asp160Asn) c.475G>A (p.Asp159Asn) | |
| 19 | g.15192162C>A | CA506078870 | NOTCH3 | c.477G>T (p.Val159=) c.474G>T (p.Val158=) | |
| 19 | g.15192162C>G | CA506078871 | NOTCH3 | c.477G>C (p.Val159=) c.474G>C (p.Val158=) | |
| 19 | g.15192162C>T | CA506078872 | NOTCH3 | c.477G>A (p.Val159=) c.474G>A (p.Val158=) | |
| 19 | g.15192163A= | CA2324750021 | NOTCH3 | c.476T= (p.Val159=) c.473T= (p.Val158=) | |
| 19 | g.15192163A>C | CA404533894 | NOTCH3 | c.476T>G (p.Val159Gly) c.473T>G (p.Val158Gly) | |
| 19 | g.15192163A>G | CA404533895 | NOTCH3 | c.476T>C (p.Val159Ala) c.473T>C (p.Val158Ala) | ClinVar dbSNP gnomAD v4 |
| 19 | g.15192163A>T | CA404533897 | NOTCH3 | c.476T>A (p.Val159Glu) c.473T>A (p.Val158Glu) | |
| 19 | g.15192164C>A | CA404533899 | NOTCH3 | c.475G>T (p.Val159Leu) c.472G>T (p.Val158Leu) | |
| 19 | g.15192164C= | CA2324750022 | NOTCH3 | c.475G= (p.Val159=) c.472G= (p.Val158=) | |
| 19 | g.15192164C>G | CA404533901 | NOTCH3 | c.475G>C (p.Val159Leu) c.472G>C (p.Val158Leu) | |
| 19 | g.15192164C>T | CA9263875 | NOTCH3 | c.475G>A (p.Val159Met) c.472G>A (p.Val158Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.15192165G>A | CA9263876 | NOTCH3 | c.474C>T (p.Asp158=) c.471C>T (p.Asp157=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192165G>C | CA404533905 | NOTCH3 | c.474C>G (p.Asp158Glu) c.471C>G (p.Asp157Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15192165G= | CA2324750023 | NOTCH3 | c.474C= (p.Asp158=) c.471C= (p.Asp157=) | |
| 19 | g.15192165G>T | CA404533903 | NOTCH3 | c.474C>A (p.Asp158Glu) c.471C>A (p.Asp157Glu) | gnomAD v4 |
| 19 | g.15192166T>A | CA404533906 | NOTCH3 | c.473A>T (p.Asp158Val) c.470A>T (p.Asp157Val) | |
| 19 | g.15192166T>C | CA404533909 | NOTCH3 | c.473A>G (p.Asp158Gly) c.470A>G (p.Asp157Gly) | |
| 19 | g.15192166T>G | CA404533907 | NOTCH3 | c.473A>C (p.Asp158Ala) c.470A>C (p.Asp157Ala) | dbSNP |
| 19 | g.15192167C>A | CA404533911 | NOTCH3 | c.472G>T (p.Asp158Tyr) c.469G>T (p.Asp157Tyr) | |
| 19 | g.15192167C= | CA2324750024 | NOTCH3 | c.472G= (p.Asp158=) c.469G= (p.Asp157=) | |
| 19 | g.15192167C>G | CA404533913 | NOTCH3 | c.472G>C (p.Asp158His) c.469G>C (p.Asp157His) | |
| 19 | g.15192167C>T | CA9263877 | NOTCH3 | c.472G>A (p.Asp158Asn) c.469G>A (p.Asp157Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192168G>A | CA9263878 | NOTCH3 | c.471C>T (p.Ser157=) c.468C>T (p.Ser156=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15192168G>C | CA404533915 | NOTCH3 | c.471C>G (p.Ser157Arg) c.468C>G (p.Ser156Arg) | gnomAD v4 |
| 19 | g.15192168G= | CA2324750025 | NOTCH3 | c.471C= (p.Ser157=) c.468C= (p.Ser156=) | |
| 19 | g.15192168G>T | CA404533917 | NOTCH3 | c.471C>A (p.Ser157Arg) c.468C>A (p.Ser156Arg) | |
| 19 | g.15192169C>A | CA404533918 | NOTCH3 | c.470G>T (p.Ser157Ile) c.467G>T (p.Ser156Ile) | dbSNP |
| 19 | g.15192169C= | CA2324750026 | NOTCH3 | c.470G= (p.Ser157=) c.467G= (p.Ser156=) | |
| 19 | g.15192169C>G | CA404533919 | NOTCH3 | c.470G>C (p.Ser157Thr) c.467G>C (p.Ser156Thr) | |
| 19 | g.15192169C>T | CA404533920 | NOTCH3 | c.470G>A (p.Ser157Asn) c.467G>A (p.Ser156Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15192170T>A | CA404533922 | NOTCH3 | c.469A>T (p.Ser157Cys) c.466A>T (p.Ser156Cys) | dbSNP |
| 19 | g.15192170T>C | CA404533924 | NOTCH3 | c.469A>G (p.Ser157Gly) c.466A>G (p.Ser156Gly) | |
| 19 | g.15192170T>G | CA404533926 | NOTCH3 | c.469A>C (p.Ser157Arg) c.466A>C (p.Ser156Arg) | dbSNP |
| 19 | g.15192171T>A | CA506078883 | NOTCH3 | c.468A>T (p.Arg156=) c.465A>T (p.Arg155=) | |
| 19 | g.15192171T>C | CA506078885 | NOTCH3 | c.468A>G (p.Arg156=) c.465A>G (p.Arg155=) | |
| 19 | g.15192171T>G | CA506078884 | NOTCH3 | c.468A>C (p.Arg156=) c.465A>C (p.Arg155=) | dbSNP |
| 19 | g.15192172C>A | CA404533927 | NOTCH3 | c.467G>T (p.Arg156Leu) c.464G>T (p.Arg155Leu) | |
| 19 | g.15192172C= | CA2324750027 | NOTCH3 | c.467G= (p.Arg156=) c.464G= (p.Arg155=) | |
| 19 | g.15192172C>G | CA404533928 | NOTCH3 | c.467G>C (p.Arg156Pro) c.464G>C (p.Arg155Pro) | |
| 19 | g.15192172C>T | CA9263879 | NOTCH3 | c.467G>A (p.Arg156Gln) c.464G>A (p.Arg155Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15192176_15192184del | CA2695228455 | NOTCH3 | c.459_467del (p.Ser154_Arg156del) c.456_464del (p.Ser153_Arg155del) | |
| 19 | g.15192173G>A | CA9263880 | NOTCH3 | c.466C>T (p.Arg156Ter) c.463C>T (p.Arg155Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.15192173G>C | CA404533931 | NOTCH3 | c.466C>G (p.Arg156Gly) c.463C>G (p.Arg155Gly) | dbSNP |
| 19 | g.15192173G= | CA2324750028 | NOTCH3 | c.466C= (p.Arg156=) c.463C= (p.Arg155=) | |
| 19 | g.15192173G>T | CA506078892 | NOTCH3 | c.466C>A (p.Arg156=) c.463C>A (p.Arg155=) | |
| 19 | g.15192174G>A | CA506078893 | NOTCH3 | c.465C>T (p.Cys155=) c.462C>T (p.Cys154=) | dbSNP |
| 19 | g.15192174G>C | CA404533933 | NOTCH3 | c.465C>G (p.Cys155Trp) c.462C>G (p.Cys154Trp) | |
| 19 | g.15192174G>T | CA404533934 | NOTCH3 | c.465C>A (p.Cys155Ter) c.462C>A (p.Cys154Ter) | dbSNP |
| 19 | g.15192175C>A | CA404533935 | NOTCH3 | c.464G>T (p.Cys155Phe) c.461G>T (p.Cys154Phe) | |
| 19 | g.15192175C>G | CA404533939 | NOTCH3 | c.464G>C (p.Cys155Ser) c.461G>C (p.Cys154Ser) | |
| 19 | g.15192175C>T | CA404533940 | NOTCH3 | c.464G>A (p.Cys155Tyr) c.461G>A (p.Cys154Tyr) |