Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.15187138T>A | CA404524681 | NOTCH3 | c.1807A>T (p.Lys603Ter) c.1804A>T (p.Lys602Ter) | |
19 | g.15187138T>C | CA404524682 | NOTCH3 | c.1807A>G (p.Lys603Glu) c.1804A>G (p.Lys602Glu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15187138T>G | CA404524683 | NOTCH3 | c.1807A>C (p.Lys603Gln) c.1804A>C (p.Lys602Gln) | |
19 | g.15187138T= | CA2324747635 | NOTCH3 | c.1807A= (p.Lys603=) c.1804A= (p.Lys602=) | |
19 | g.15187139G>A | CA506078432 | NOTCH3 | c.1806C>T (p.Asp602=) c.1803C>T (p.Asp601=) | |
19 | g.15187139G>C | CA404524685 | NOTCH3 | c.1806C>G (p.Asp602Glu) c.1803C>G (p.Asp601Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15187139G= | CA2324747636 | NOTCH3 | c.1806C= (p.Asp602=) c.1803C= (p.Asp601=) | |
19 | g.15187139G>T | CA404524686 | NOTCH3 | c.1806C>A (p.Asp602Glu) c.1803C>A (p.Asp601Glu) | dbSNP gnomAD v4 |
19 | g.15187140T>A | CA404524687 | NOTCH3 | c.1805A>T (p.Asp602Val) c.1802A>T (p.Asp601Val) | |
19 | g.15187140T>C | CA404524688 | NOTCH3 | c.1805A>G (p.Asp602Gly) c.1802A>G (p.Asp601Gly) | dbSNP |
19 | g.15187140T>G | CA404524690 | NOTCH3 | c.1805A>C (p.Asp602Ala) c.1802A>C (p.Asp601Ala) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15187140T= | CA2324747637 | NOTCH3 | c.1805A= (p.Asp602=) c.1802A= (p.Asp601=) | |
19 | g.15187141C>A | CA404524693 | NOTCH3 | c.1804G>T (p.Asp602Tyr) c.1801G>T (p.Asp601Tyr) | |
19 | g.15187141C>G | CA404524694 | NOTCH3 | c.1804G>C (p.Asp602His) c.1801G>C (p.Asp601His) | |
19 | g.15187141C>T | CA404524696 | NOTCH3 | c.1804G>A (p.Asp602Asn) c.1801G>A (p.Asp601Asn) | |
19 | g.15187142C>A | CA506078433 | NOTCH3 | c.1803G>T (p.Val601=) c.1800G>T (p.Val600=) | |
19 | g.15187142C>G | CA506078434 | NOTCH3 | c.1803G>C (p.Val601=) c.1800G>C (p.Val600=) | |
19 | g.15187142C>T | CA506078435 | NOTCH3 | c.1803G>A (p.Val601=) c.1800G>A (p.Val600=) | |
19 | g.15187143A>C | CA404524698 | NOTCH3 | c.1802T>G (p.Val601Gly) c.1799T>G (p.Val600Gly) | |
19 | g.15187143A>G | CA404524700 | NOTCH3 | c.1802T>C (p.Val601Ala) c.1799T>C (p.Val600Ala) | |
19 | g.15187143A>T | CA404524702 | NOTCH3 | c.1802T>A (p.Val601Glu) c.1799T>A (p.Val600Glu) | |
19 | g.15187144C>A | CA305774802 | NOTCH3 | c.1801G>T (p.Val601Leu) c.1798G>T (p.Val600Leu) | ClinVar dbSNP |
19 | g.15187144C= | CA2324747638 | NOTCH3 | c.1801G= (p.Val601=) c.1798G= (p.Val600=) | |
19 | g.15187144C>G | CA404524708 | NOTCH3 | c.1801G>C (p.Val601Leu) c.1798G>C (p.Val600Leu) | |
19 | g.15187144C>T | CA404524705 | NOTCH3 | c.1801G>A (p.Val601Met) c.1798G>A (p.Val600Met) | |
19 | g.15187145del | CA2735783946 | NOTCH3 | c.1801del (p.Val601TrpfsTer15) c.1798del (p.Val600TrpfsTer15) | dbSNP |
19 | g.15187145C>A | CA506078436 | NOTCH3 | c.1800G>T (p.Leu600=) c.1797G>T (p.Leu599=) | |
19 | g.15187145C= | CA2324747639 | NOTCH3 | c.1800G= (p.Leu600=) c.1797G= (p.Leu599=) | |
19 | g.15187145C>G | CA506078437 | NOTCH3 | c.1800G>C (p.Leu600=) c.1797G>C (p.Leu599=) | |
19 | g.15187145C>T | CA9263546 | NOTCH3 | c.1800G>A (p.Leu600=) c.1797G>A (p.Leu599=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15187146A>C | CA404524712 | NOTCH3 | c.1799T>G (p.Leu600Arg) c.1796T>G (p.Leu599Arg) | |
19 | g.15187146A>G | CA404524713 | NOTCH3 | c.1799T>C (p.Leu600Pro) c.1796T>C (p.Leu599Pro) | |
19 | g.15187146A>T | CA404524715 | NOTCH3 | c.1799T>A (p.Leu600Gln) c.1796T>A (p.Leu599Gln) | |
19 | g.15187147G>A | CA506078440 | NOTCH3 | c.1798C>T (p.Leu600=) c.1795C>T (p.Leu599=) | gnomAD v4 |
19 | g.15187147G>C | CA404524716 | NOTCH3 | c.1798C>G (p.Leu600Val) c.1795C>G (p.Leu599Val) | |
19 | g.15187147G>T | CA404524724 | NOTCH3 | c.1798C>A (p.Leu600Met) c.1795C>A (p.Leu599Met) | |
19 | g.15187148G>A | CA506078442 | NOTCH3 | c.1797C>T (p.Asp599=) c.1794C>T (p.Asp598=) | gnomAD v4 |
19 | g.15187148G>C | CA404524726 | NOTCH3 | c.1797C>G (p.Asp599Glu) c.1794C>G (p.Asp598Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.15187148G= | CA2324747640 | NOTCH3 | c.1797C= (p.Asp599=) c.1794C= (p.Asp598=) | |
19 | g.15187148G>T | CA404524729 | NOTCH3 | c.1797C>A (p.Asp599Glu) c.1794C>A (p.Asp598Glu) | |
19 | g.15187149T>A | CA404524730 | NOTCH3 | c.1796A>T (p.Asp599Val) c.1793A>T (p.Asp598Val) | dbSNP |
19 | g.15187149T>C | CA404524731 | NOTCH3 | c.1796A>G (p.Asp599Gly) c.1793A>G (p.Asp598Gly) | |
19 | g.15187149T>G | CA404524733 | NOTCH3 | c.1796A>C (p.Asp599Ala) c.1793A>C (p.Asp598Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15187149T= | CA2324747641 | NOTCH3 | c.1796A= (p.Asp599=) c.1793A= (p.Asp598=) | |
19 | g.15187150C>A | CA404524738 | NOTCH3 | c.1795G>T (p.Asp599Tyr) c.1792G>T (p.Asp598Tyr) | |
19 | g.15187150C>G | CA404524736 | NOTCH3 | c.1795G>C (p.Asp599His) c.1792G>C (p.Asp598His) | |
19 | g.15187150C>T | CA404524735 | NOTCH3 | c.1795G>A (p.Asp599Asn) c.1792G>A (p.Asp598Asn) | |
19 | g.15187151T>A | CA506078443 | NOTCH3 | c.1794A>T (p.Leu598=) c.1791A>T (p.Leu597=) | |
19 | g.15187151T>C | CA506078447 | NOTCH3 | c.1794A>G (p.Leu598=) c.1791A>G (p.Leu597=) | |
19 | g.15187151T>G | CA506078445 | NOTCH3 | c.1794A>C (p.Leu598=) c.1791A>C (p.Leu597=) |