| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.15187126G>A | CA9263542 | NOTCH3 | c.1819C>T (p.Arg607Cys) c.1816C>T (p.Arg606Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187126G>C | CA404524625 | NOTCH3 | c.1819C>G (p.Arg607Gly) c.1816C>G (p.Arg606Gly) | |
| 19 | g.15187126G= | CA2324747628 | NOTCH3 | c.1819C= (p.Arg607=) c.1816C= (p.Arg606=) | |
| 19 | g.15187126G>T | CA404524626 | NOTCH3 | c.1819C>A (p.Arg607Ser) c.1816C>A (p.Arg606Ser) | |
| 19 | g.15187127G>A | CA9263543 | NOTCH3 | c.1818C>T (p.Cys606=) c.1815C>T (p.Cys605=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187127G>C | CA404524630 | NOTCH3 | c.1818C>G (p.Cys606Trp) c.1815C>G (p.Cys605Trp) | dbSNP |
| 19 | g.15187127G= | CA2324747629 | NOTCH3 | c.1818C= (p.Cys606=) c.1815C= (p.Cys605=) | |
| 19 | g.15187127G>T | CA404524633 | NOTCH3 | c.1818C>A (p.Cys606Ter) c.1815C>A (p.Cys605Ter) | |
| 19 | g.15187128C>A | CA404524636 | NOTCH3 | c.1817G>T (p.Cys606Phe) c.1814G>T (p.Cys605Phe) | |
| 19 | g.15187128C>G | CA404524637 | NOTCH3 | c.1817G>C (p.Cys606Ser) c.1814G>C (p.Cys605Ser) | dbSNP |
| 19 | g.15187128C>T | CA404524639 | NOTCH3 | c.1817G>A (p.Cys606Tyr) c.1814G>A (p.Cys605Tyr) | |
| 19 | g.15187129A= | CA2324747630 | NOTCH3 | c.1816T= (p.Cys606=) c.1813T= (p.Cys605=) | |
| 19 | g.15187129A>C | CA404524644 | NOTCH3 | c.1816T>G (p.Cys606Gly) c.1813T>G (p.Cys605Gly) | |
| 19 | g.15187129A>G | CA404524641 | NOTCH3 | c.1816T>C (p.Cys606Arg) c.1813T>C (p.Cys605Arg) | ClinVar dbSNP |
| 19 | g.15187129A>T | CA404524640 | NOTCH3 | c.1816T>A (p.Cys606Ser) c.1813T>A (p.Cys605Ser) | |
| 19 | g.15187130G>A | CA9263544 | NOTCH3 | c.1815C>T (p.Leu605=) c.1812C>T (p.Leu604=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187130G>C | CA506078427 | NOTCH3 | c.1815C>G (p.Leu605=) c.1812C>G (p.Leu604=) | |
| 19 | g.15187130G= | CA2324747631 | NOTCH3 | c.1815C= (p.Leu605=) c.1812C= (p.Leu604=) | |
| 19 | g.15187130G>T | CA506078428 | NOTCH3 | c.1815C>A (p.Leu605=) c.1812C>A (p.Leu604=) | |
| 19 | g.15187131A>C | CA404524653 | NOTCH3 | c.1814T>G (p.Leu605Arg) c.1811T>G (p.Leu604Arg) | |
| 19 | g.15187131A>G | CA404524651 | NOTCH3 | c.1814T>C (p.Leu605Pro) c.1811T>C (p.Leu604Pro) | |
| 19 | g.15187131A>T | CA404524655 | NOTCH3 | c.1814T>A (p.Leu605His) c.1811T>A (p.Leu604His) | |
| 19 | g.15187132G>A | CA404524657 | NOTCH3 | c.1813C>T (p.Leu605Phe) c.1810C>T (p.Leu604Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187132G>C | CA404524658 | NOTCH3 | c.1813C>G (p.Leu605Val) c.1810C>G (p.Leu604Val) | |
| 19 | g.15187132G= | CA2324747632 | NOTCH3 | c.1813C= (p.Leu605=) c.1810C= (p.Leu604=) | |
| 19 | g.15187132G>T | CA404524660 | NOTCH3 | c.1813C>A (p.Leu605Ile) c.1810C>A (p.Leu604Ile) | |
| 19 | g.15187133G>A | CA506078429 | NOTCH3 | c.1812C>T (p.Tyr604=) c.1809C>T (p.Tyr603=) | gnomAD v4 |
| 19 | g.15187133G>C | CA404524661 | NOTCH3 | c.1812C>G (p.Tyr604Ter) c.1809C>G (p.Tyr603Ter) | |
| 19 | g.15187133G>T | CA404524662 | NOTCH3 | c.1812C>A (p.Tyr604Ter) c.1809C>A (p.Tyr603Ter) | |
| 19 | g.15187134T>A | CA404524665 | NOTCH3 | c.1811A>T (p.Tyr604Phe) c.1808A>T (p.Tyr603Phe) | |
| 19 | g.15187134T>C | CA404524666 | NOTCH3 | c.1811A>G (p.Tyr604Cys) c.1808A>G (p.Tyr603Cys) | |
| 19 | g.15187134T>G | CA404524668 | NOTCH3 | c.1811A>C (p.Tyr604Ser) c.1808A>C (p.Tyr603Ser) | |
| 19 | g.15187135A= | CA2324747633 | NOTCH3 | c.1810T= (p.Tyr604=) c.1807T= (p.Tyr603=) | |
| 19 | g.15187135A>C | CA404524669 | NOTCH3 | c.1810T>G (p.Tyr604Asp) c.1807T>G (p.Tyr603Asp) | dbSNP |
| 19 | g.15187135A>G | CA9263545 | NOTCH3 | c.1810T>C (p.Tyr604His) c.1807T>C (p.Tyr603His) | dbSNP ExAC |
| 19 | g.15187135A>T | CA404524671 | NOTCH3 | c.1810T>A (p.Tyr604Asn) c.1807T>A (p.Tyr603Asn) | dbSNP |
| 19 | g.15187136C>A | CA404524673 | NOTCH3 | c.1809G>T (p.Lys603Asn) c.1806G>T (p.Lys602Asn) | |
| 19 | g.15187136C>G | CA404524675 | NOTCH3 | c.1809G>C (p.Lys603Asn) c.1806G>C (p.Lys602Asn) | |
| 19 | g.15187136C>T | CA506078430 | NOTCH3 | c.1809G>A (p.Lys603=) c.1806G>A (p.Lys602=) | |
| 19 | g.15187137T>A | CA404524679 | NOTCH3 | c.1808A>T (p.Lys603Met) c.1805A>T (p.Lys602Met) | dbSNP |
| 19 | g.15187137T>C | CA16043737 | NOTCH3 | c.1808A>G (p.Lys603Arg) c.1805A>G (p.Lys602Arg) | ClinVar dbSNP |
| 19 | g.15187137T>G | CA404524676 | NOTCH3 | c.1808A>C (p.Lys603Thr) c.1805A>C (p.Lys602Thr) | |
| 19 | g.15187137T= | CA2324747634 | NOTCH3 | c.1808A= (p.Lys603=) c.1805A= (p.Lys602=) | |
| 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=) |