UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.15187173C>A | CA404524849 | NOTCH3 | c.1772G>T (p.Cys591Phe) c.1769G>T (p.Cys590Phe) | dbSNP |
| 19 | g.15187173C>G | CA404524852 | NOTCH3 | c.1772G>C (p.Cys591Ser) c.1769G>C (p.Cys590Ser) | dbSNP |
| 19 | g.15187173C>T | CA404524853 | NOTCH3 | c.1772G>A (p.Cys591Tyr) c.1769G>A (p.Cys590Tyr) | dbSNP |
| 19 | g.15187174A= | CA2324747654 | NOTCH3 | c.1771T= (p.Cys591=) c.1768T= (p.Cys590=) | |
| 19 | g.15187174A>C | CA404524857 | NOTCH3 | c.1771T>G (p.Cys591Gly) c.1768T>G (p.Cys590Gly) | |
| 19 | g.15187174A>G | CA404524856 | NOTCH3 | c.1771T>C (p.Cys591Arg) c.1768T>C (p.Cys590Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15187174A>T | CA404524854 | NOTCH3 | c.1771T>A (p.Cys591Ser) c.1768T>A (p.Cys590Ser) | |
| 19 | g.15187175G>A | CA506078461 | NOTCH3 | c.1770C>T (p.Pro590=) c.1767C>T (p.Pro589=) | |
| 19 | g.15187175G>C | CA506078462 | NOTCH3 | c.1770C>G (p.Pro590=) c.1767C>G (p.Pro589=) | |
| 19 | g.15187175G>T | CA506078463 | NOTCH3 | c.1770C>A (p.Pro590=) c.1767C>A (p.Pro589=) | |
| 19 | g.15187176G>A | CA404524859 | NOTCH3 | c.1769C>T (p.Pro590Leu) c.1766C>T (p.Pro589Leu) | |
| 19 | g.15187176G>C | CA404524861 | NOTCH3 | c.1769C>G (p.Pro590Arg) c.1766C>G (p.Pro589Arg) | |
| 19 | g.15187176G>T | CA404524862 | NOTCH3 | c.1769C>A (p.Pro590His) c.1766C>A (p.Pro589His) | |
| 19 | g.15187177G>A | CA9263551 | NOTCH3 | c.1768C>T (p.Pro590Ser) c.1765C>T (p.Pro589Ser) | dbSNP ExAC gnomAD v4 |
| 19 | g.15187177G>C | CA404524866 | NOTCH3 | c.1768C>G (p.Pro590Ala) c.1765C>G (p.Pro589Ala) | |
| 19 | g.15187177G= | CA2324747655 | NOTCH3 | c.1768C= (p.Pro590=) c.1765C= (p.Pro589=) | |
| 19 | g.15187177G>T | CA404524869 | NOTCH3 | c.1768C>A (p.Pro590Thr) c.1765C>A (p.Pro589Thr) | |
| 19 | g.15187178C>A | CA404524871 | NOTCH3 | c.1767G>T (p.Gln589His) c.1764G>T (p.Gln588His) | |
| 19 | g.15187178C= | CA2324747656 | NOTCH3 | c.1767G= (p.Gln589=) c.1764G= (p.Gln588=) | |
| 19 | g.15187178C>G | CA9263553 | NOTCH3 | c.1767G>C (p.Gln589His) c.1764G>C (p.Gln588His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187178C>T | CA9263552 | NOTCH3 | c.1767G>A (p.Gln589=) c.1764G>A (p.Gln588=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187179T>A | CA404524876 | NOTCH3 | c.1766A>T (p.Gln589Leu) c.1763A>T (p.Gln588Leu) | |
| 19 | g.15187179T>C | CA404524877 | NOTCH3 | c.1766A>G (p.Gln589Arg) c.1763A>G (p.Gln588Arg) | |
| 19 | g.15187179T>G | CA404524880 | NOTCH3 | c.1766A>C (p.Gln589Pro) c.1763A>C (p.Gln588Pro) | dbSNP gnomAD v4 |
| 19 | g.15187179T= | CA2324747657 | NOTCH3 | c.1766A= (p.Gln589=) c.1763A= (p.Gln588=) | |
| 19 | g.15187180G>A | CA404524882 | NOTCH3 | c.1765C>T (p.Gln589Ter) c.1762C>T (p.Gln588Ter) | dbSNP |
| 19 | g.15187180G>C | CA404524884 | NOTCH3 | c.1765C>G (p.Gln589Glu) c.1762C>G (p.Gln588Glu) | |
| 19 | g.15187180G>T | CA404524887 | NOTCH3 | c.1765C>A (p.Gln589Lys) c.1762C>A (p.Gln588Lys) | |
| 19 | g.15187181G>A | CA506078464 | NOTCH3 | c.1764C>T (p.Ser588=) c.1761C>T (p.Ser587=) | gnomAD v4 |
| 19 | g.15187181G>C | CA404524889 | NOTCH3 | c.1764C>G (p.Ser588Arg) c.1761C>G (p.Ser587Arg) | gnomAD v4 |
| 19 | g.15187181G>T | CA404524890 | NOTCH3 | c.1764C>A (p.Ser588Arg) c.1761C>A (p.Ser587Arg) | |
| 19 | g.15187182C>A | CA404524891 | NOTCH3 | c.1763G>T (p.Ser588Ile) c.1760G>T (p.Ser587Ile) | gnomAD v4 |
| 19 | g.15187182C>G | CA404524892 | NOTCH3 | c.1763G>C (p.Ser588Thr) c.1760G>C (p.Ser587Thr) | |
| 19 | g.15187182C>T | CA404524893 | NOTCH3 | c.1763G>A (p.Ser588Asn) c.1760G>A (p.Ser587Asn) | |
| 19 | g.15187183T>A | CA404524894 | NOTCH3 | c.1762A>T (p.Ser588Cys) c.1759A>T (p.Ser587Cys) | |
| 19 | g.15187183T>C | CA404524897 | NOTCH3 | c.1762A>G (p.Ser588Gly) c.1759A>G (p.Ser587Gly) | |
| 19 | g.15187183T>G | CA404524896 | NOTCH3 | c.1762A>C (p.Ser588Arg) c.1759A>C (p.Ser587Arg) | |
| 19 | g.15187184G>A | CA506078465 | NOTCH3 | c.1761C>T (p.Arg587=) c.1758C>T (p.Arg586=) | |
| 19 | g.15187184G>C | CA506078466 | NOTCH3 | c.1761C>G (p.Arg587=) c.1758C>G (p.Arg586=) | |
| 19 | g.15187184G>T | CA506078467 | NOTCH3 | c.1761C>A (p.Arg587=) c.1758C>A (p.Arg586=) | gnomAD v3 gnomAD v4 |
| 19 | g.15187185C>A | CA404524899 | NOTCH3 | c.1760G>T (p.Arg587Leu) c.1757G>T (p.Arg586Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187185C= | CA2324747658 | NOTCH3 | c.1760G= (p.Arg587=) c.1757G= (p.Arg586=) | |
| 19 | g.15187185C>G | CA404524901 | NOTCH3 | c.1760G>C (p.Arg587Pro) c.1757G>C (p.Arg586Pro) | dbSNP |
| 19 | g.15187185C>T | CA9263554 | NOTCH3 | c.1760G>A (p.Arg587His) c.1757G>A (p.Arg586His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187186G>A | CA9263555 | NOTCH3 | c.1759C>T (p.Arg587Cys) c.1756C>T (p.Arg586Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187186G>C | CA9263556 | NOTCH3 | c.1759C>G (p.Arg587Gly) c.1756C>G (p.Arg586Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187186G= | CA2324747659 | NOTCH3 | c.1759C= (p.Arg587=) c.1756C= (p.Arg586=) | |
| 19 | g.15187186G>T | CA404524904 | NOTCH3 | c.1759C>A (p.Arg587Ser) c.1756C>A (p.Arg586Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187187G>A | CA506078468 | NOTCH3 | c.1758C>T (p.Cys586=) c.1755C>T (p.Cys585=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187187G>C | CA404524907 | NOTCH3 | c.1758C>G (p.Cys586Trp) c.1755C>G (p.Cys585Trp) | dbSNP |
| 19 | g.15187187G= | CA2324747660 | NOTCH3 | c.1758C= (p.Cys586=) c.1755C= (p.Cys585=) | |
| 19 | g.15187187G>T | CA404524909 | NOTCH3 | c.1758C>A (p.Cys586Ter) c.1755C>A (p.Cys585Ter) | |
| 19 | g.15187188C>A | CA404524911 | NOTCH3 | c.1757G>T (p.Cys586Phe) c.1754G>T (p.Cys585Phe) | dbSNP |
| 19 | g.15187188C>G | CA404524914 | NOTCH3 | c.1757G>C (p.Cys586Ser) c.1754G>C (p.Cys585Ser) | dbSNP |
| 19 | g.15187188C>T | CA404524915 | NOTCH3 | c.1757G>A (p.Cys586Tyr) c.1754G>A (p.Cys585Tyr) | |
| 19 | g.15187189A>C | CA404524918 | NOTCH3 | c.1756T>G (p.Cys586Gly) c.1753T>G (p.Cys585Gly) | |
| 19 | g.15187189A>G | CA404524919 | NOTCH3 | c.1756T>C (p.Cys586Arg) c.1753T>C (p.Cys585Arg) | ClinVar |
| 19 | g.15187189A>T | CA404524921 | NOTCH3 | c.1756T>A (p.Cys586Ser) c.1753T>A (p.Cys585Ser) | |
| 19 | g.15187190T>A | CA404524924 | NOTCH3 | c.1755A>T (p.Glu585Asp) c.1752A>T (p.Glu584Asp) | |
| 19 | g.15187190T>C | CA506078469 | NOTCH3 | c.1755A>G (p.Glu585=) c.1752A>G (p.Glu584=) | gnomAD v4 |
| 19 | g.15187190T>G | CA404524925 | NOTCH3 | c.1755A>C (p.Glu585Asp) c.1752A>C (p.Glu584Asp) | |
| 19 | g.15187191T>A | CA404524931 | NOTCH3 | c.1754A>T (p.Glu585Val) c.1751A>T (p.Glu584Val) | |
| 19 | g.15187191T>C | CA404524930 | NOTCH3 | c.1754A>G (p.Glu585Gly) c.1751A>G (p.Glu584Gly) | |
| 19 | g.15187191T>G | CA404524928 | NOTCH3 | c.1754A>C (p.Glu585Ala) c.1751A>C (p.Glu584Ala) | |
| 19 | g.15187192C>A | CA404524933 | NOTCH3 | c.1753G>T (p.Glu585Ter) c.1750G>T (p.Glu584Ter) | gnomAD v4 |
| 19 | g.15187192C= | CA2324747661 | NOTCH3 | c.1753G= (p.Glu585=) c.1750G= (p.Glu584=) | |
| 19 | g.15187192C>G | CA404524934 | NOTCH3 | c.1753G>C (p.Glu585Gln) c.1750G>C (p.Glu584Gln) | gnomAD v4 |
| 19 | g.15187192C>T | CA9263557 | NOTCH3 | c.1753G>A (p.Glu585Lys) c.1750G>A (p.Glu584Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187193G>A | CA9263558 | NOTCH3 | c.1752C>T (p.Asp584=) c.1749C>T (p.Asp583=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.15187193G>C | CA404524940 | NOTCH3 | c.1752C>G (p.Asp584Glu) c.1749C>G (p.Asp583Glu) | |
| 19 | g.15187193G= | CA2324747662 | NOTCH3 | c.1752C= (p.Asp584=) c.1749C= (p.Asp583=) | |
| 19 | g.15187193G>T | CA404524941 | NOTCH3 | c.1752C>A (p.Asp584Glu) c.1749C>A (p.Asp583Glu) | |
| 19 | g.15187194T>A | CA404524943 | NOTCH3 | c.1751A>T (p.Asp584Val) c.1748A>T (p.Asp583Val) | dbSNP |
| 19 | g.15187194T>C | CA404524944 | NOTCH3 | c.1751A>G (p.Asp584Gly) c.1748A>G (p.Asp583Gly) | |
| 19 | g.15187194T>G | CA404524946 | NOTCH3 | c.1751A>C (p.Asp584Ala) c.1748A>C (p.Asp583Ala) | |
| 19 | g.15187195C>A | CA404524949 | NOTCH3 | c.1750G>T (p.Asp584Tyr) c.1747G>T (p.Asp583Tyr) | |
| 19 | g.15187195C>G | CA404524951 | NOTCH3 | c.1750G>C (p.Asp584His) c.1747G>C (p.Asp583His) | |
| 19 | g.15187195C>T | CA404524952 | NOTCH3 | c.1750G>A (p.Asp584Asn) c.1747G>A (p.Asp583Asn) | |
| 19 | g.15187196C>A | CA506078470 | NOTCH3 | c.1749G>T (p.Val583=) c.1746G>T (p.Val582=) | |
| 19 | g.15187196C= | CA2324747663 | NOTCH3 | c.1749G= (p.Val583=) c.1746G= (p.Val582=) | |
| 19 | g.15187196C>G | CA506078471 | NOTCH3 | c.1749G>C (p.Val583=) c.1746G>C (p.Val582=) | |
| 19 | g.15187196C>T | CA9263559 | NOTCH3 | c.1749G>A (p.Val583=) c.1746G>A (p.Val582=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187197A>C | CA404524959 | NOTCH3 | c.1748T>G (p.Val583Gly) c.1745T>G (p.Val582Gly) | |
| 19 | g.15187197A>G | CA404524955 | NOTCH3 | c.1748T>C (p.Val583Ala) c.1745T>C (p.Val582Ala) | |
| 19 | g.15187197A>T | CA404524958 | NOTCH3 | c.1748T>A (p.Val583Glu) c.1745T>A (p.Val582Glu) | |
| 19 | g.15187198C>A | CA404524961 | NOTCH3 | c.1747G>T (p.Val583Leu) c.1744G>T (p.Val582Leu) | |
| 19 | g.15187198C= | CA2324747664 | NOTCH3 | c.1747G= (p.Val583=) c.1744G= (p.Val582=) | |
| 19 | g.15187198C>G | CA404524963 | NOTCH3 | c.1747G>C (p.Val583Leu) c.1744G>C (p.Val582Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187198C>T | CA10606961 | NOTCH3 | c.1747G>A (p.Val583Met) c.1744G>A (p.Val582Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187199C>A | CA404524966 | NOTCH3 | c.1746G>T (p.Gln582His) c.1743G>T (p.Gln581His) | |
| 19 | g.15187199C>G | CA404524968 | NOTCH3 | c.1746G>C (p.Gln582His) c.1743G>C (p.Gln581His) | |
| 19 | g.15187199C>T | CA506078475 | NOTCH3 | c.1746G>A (p.Gln582=) c.1743G>A (p.Gln581=) | gnomAD v4 |
| 19 | g.15187200T>A | CA404524971 | NOTCH3 | c.1745A>T (p.Gln582Leu) c.1742A>T (p.Gln581Leu) | |
| 19 | g.15187200T>C | CA404524973 | NOTCH3 | c.1745A>G (p.Gln582Arg) c.1742A>G (p.Gln581Arg) | |
| 19 | g.15187200T>G | CA404524975 | NOTCH3 | c.1745A>C (p.Gln582Pro) c.1742A>C (p.Gln581Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15187200T= | CA2324747665 | NOTCH3 | c.1745A= (p.Gln582=) c.1742A= (p.Gln581=) | |
| 19 | g.15187201G>A | CA404524977 | NOTCH3 | c.1744C>T (p.Gln582Ter) c.1741C>T (p.Gln581Ter) | dbSNP |
| 19 | g.15187201G>C | CA404524980 | NOTCH3 | c.1744C>G (p.Gln582Glu) c.1741C>G (p.Gln581Glu) | |
| 19 | g.15187201G>T | CA404524982 | NOTCH3 | c.1744C>A (p.Gln582Lys) c.1741C>A (p.Gln581Lys) | |
| 19 | g.15187202G>A | CA305774890 | NOTCH3 | c.1743C>T (p.Ser581=) c.1740C>T (p.Ser580=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15187202G>C | CA404524985 | NOTCH3 | c.1743C>G (p.Ser581Arg) c.1740C>G (p.Ser580Arg) | gnomAD v4 |
| 19 | g.15187202G= | CA2324747666 | NOTCH3 | c.1743C= (p.Ser581=) c.1740C= (p.Ser580=) | |
| 19 | g.15187202G>T | CA404524986 | NOTCH3 | c.1743C>A (p.Ser581Arg) c.1740C>A (p.Ser580Arg) | |
| 19 | g.15187203C>A | CA404524989 | NOTCH3 | c.1742G>T (p.Ser581Ile) c.1739G>T (p.Ser580Ile) | |
| 19 | g.15187203C= | CA2324747667 | NOTCH3 | c.1742G= (p.Ser581=) c.1739G= (p.Ser580=) | |
| 19 | g.15187203C>G | CA9263560 | NOTCH3 | c.1742G>C (p.Ser581Thr) c.1739G>C (p.Ser580Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187203C>T | CA404524997 | NOTCH3 | c.1742G>A (p.Ser581Asn) c.1739G>A (p.Ser580Asn) | gnomAD v4 |
| 19 | g.15187204T>A | CA404524999 | NOTCH3 | c.1741A>T (p.Ser581Cys) c.1738A>T (p.Ser580Cys) | |
| 19 | g.15187204T>C | CA404525001 | NOTCH3 | c.1741A>G (p.Ser581Gly) c.1738A>G (p.Ser580Gly) | |
| 19 | g.15187204T>G | CA404525002 | NOTCH3 | c.1741A>C (p.Ser581Arg) c.1738A>C (p.Ser580Arg) | |
| 19 | g.15187205C>A | CA404525005 | NOTCH3 | c.1740G>T (p.Glu580Asp) c.1737G>T (p.Glu579Asp) | |
| 19 | g.15187205C>G | CA404525007 | NOTCH3 | c.1740G>C (p.Glu580Asp) c.1737G>C (p.Glu579Asp) | dbSNP |
| 19 | g.15187205C>T | CA506078480 | NOTCH3 | c.1740G>A (p.Glu580=) c.1737G>A (p.Glu579=) | |
| 19 | g.15187206T>A | CA404525009 | NOTCH3 | c.1739A>T (p.Glu580Val) c.1736A>T (p.Glu579Val) | gnomAD v3 gnomAD v4 |
| 19 | g.15187206T>C | CA404525012 | NOTCH3 | c.1739A>G (p.Glu580Gly) c.1736A>G (p.Glu579Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15187206T>G | CA404525013 | NOTCH3 | c.1739A>C (p.Glu580Ala) c.1736A>C (p.Glu579Ala) | |
| 19 | g.15187206T= | CA2324747668 | NOTCH3 | c.1739A= (p.Glu580=) c.1736A= (p.Glu579=) | |
| 19 | g.15187207C>A | CA404525016 | NOTCH3 | c.1738G>T (p.Glu580Ter) c.1735G>T (p.Glu579Ter) | |
| 19 | g.15187207C= | CA2324747669 | NOTCH3 | c.1738G= (p.Glu580=) c.1735G= (p.Glu579=) | |
| 19 | g.15187207C>G | CA404525019 | NOTCH3 | c.1738G>C (p.Glu580Gln) c.1735G>C (p.Glu579Gln) | |
| 19 | g.15187207C>T | CA9263561 | NOTCH3 | c.1738G>A (p.Glu580Lys) c.1735G>A (p.Glu579Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187208G>A | CA9263562 | NOTCH3 | c.1737C>T (p.Cys579=) c.1734C>T (p.Cys578=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187208G>C | CA404525020 | NOTCH3 | c.1737C>G (p.Cys579Trp) c.1734C>G (p.Cys578Trp) | dbSNP gnomAD v4 |
| 19 | g.15187208G= | CA2324747670 | NOTCH3 | c.1737C= (p.Cys579=) c.1734C= (p.Cys578=) | |
| 19 | g.15187208G>T | CA404525022 | NOTCH3 | c.1737C>A (p.Cys579Ter) c.1734C>A (p.Cys578Ter) | gnomAD v4 COSMIC COSMIC |
| 19 | g.15187209C>A | CA404525025 | NOTCH3 | c.1736G>T (p.Cys579Phe) c.1733G>T (p.Cys578Phe) | |
| 19 | g.15187209C>G | CA404525028 | NOTCH3 | c.1736G>C (p.Cys579Ser) c.1733G>C (p.Cys578Ser) | |
| 19 | g.15187209C>T | CA404525029 | NOTCH3 | c.1736G>A (p.Cys579Tyr) c.1733G>A (p.Cys578Tyr) | ClinVar dbSNP gnomAD v4 |
| 19 | g.15187210A>C | CA404525031 | NOTCH3 | c.1735T>G (p.Cys579Gly) c.1732T>G (p.Cys578Gly) | |
| 19 | g.15187210A>G | CA404525034 | NOTCH3 | c.1735T>C (p.Cys579Arg) c.1732T>C (p.Cys578Arg) | |
| 19 | g.15187210A>T | CA404525036 | NOTCH3 | c.1735T>A (p.Cys579Ser) c.1732T>A (p.Cys578Ser) | |
| 19 | g.15187211G>A | CA506078486 | NOTCH3 | c.1734C>T (p.Arg578=) c.1731C>T (p.Arg577=) | |
| 19 | g.15187211G>C | CA506078485 | NOTCH3 | c.1734C>G (p.Arg578=) c.1731C>G (p.Arg577=) | |
| 19 | g.15187211G>T | CA506078484 | NOTCH3 | c.1734C>A (p.Arg578=) c.1731C>A (p.Arg577=) | |
| 19 | g.15187212C>A | CA9263563 | NOTCH3 | c.1733G>T (p.Arg578Leu) c.1730G>T (p.Arg577Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187212C= | CA2324747671 | NOTCH3 | c.1733G= (p.Arg578=) c.1730G= (p.Arg577=) | |
| 19 | g.15187212C>G | CA404525039 | NOTCH3 | c.1733G>C (p.Arg578Pro) c.1730G>C (p.Arg577Pro) | |
| 19 | g.15187212C>T | CA404525040 | NOTCH3 | c.1733G>A (p.Arg578His) c.1730G>A (p.Arg577His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187213G>A | CA9263564 | NOTCH3 | c.1732C>T (p.Arg578Cys) c.1729C>T (p.Arg577Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187213G>C | CA404525046 | NOTCH3 | c.1732C>G (p.Arg578Gly) c.1729C>G (p.Arg577Gly) | dbSNP gnomAD v4 COSMIC COSMIC |
| 19 | g.15187213G= | CA2324747672 | NOTCH3 | c.1732C= (p.Arg578=) c.1729C= (p.Arg577=) | |
| 19 | g.15187213G>T | CA404525043 | NOTCH3 | c.1732C>A (p.Arg578Ser) c.1729C>A (p.Arg577Ser) | ClinVar dbSNP |
| 19 | g.15187216_15187217del | CA2583064581 | NOTCH3 | c.1731_1732del (p.Arg578LeufsTer?) c.1728_1729del (p.Arg577LeufsTer?) | gnomAD v4 |
| 19 | g.15187214T>A | CA506078488 | NOTCH3 | c.1731A>T (p.Thr577=) c.1728A>T (p.Thr576=) | |
| 19 | g.15187214T>C | CA506078490 | NOTCH3 | c.1731A>G (p.Thr577=) c.1728A>G (p.Thr576=) | |
| 19 | g.15187214T>G | CA506078489 | NOTCH3 | c.1731A>C (p.Thr577=) c.1728A>C (p.Thr576=) | |
| 19 | g.15187215G>A | CA9263565 | NOTCH3 | c.1730C>T (p.Thr577Ile) c.1727C>T (p.Thr576Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187215G>C | CA404525050 | NOTCH3 | c.1730C>G (p.Thr577Arg) c.1727C>G (p.Thr576Arg) | |
| 19 | g.15187215G= | CA2324747673 | NOTCH3 | c.1730C= (p.Thr577=) c.1727C= (p.Thr576=) | |
| 19 | g.15187215G>T | CA404525052 | NOTCH3 | c.1730C>A (p.Thr577Lys) c.1727C>A (p.Thr576Lys) | |
| 19 | g.15187216T>A | CA404525054 | NOTCH3 | c.1729A>T (p.Thr577Ser) c.1726A>T (p.Thr576Ser) | |
| 19 | g.15187216T>C | CA9263566 | NOTCH3 | c.1729A>G (p.Thr577Ala) c.1726A>G (p.Thr576Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187216T>G | CA404525057 | NOTCH3 | c.1729A>C (p.Thr577Pro) c.1726A>C (p.Thr576Pro) | dbSNP gnomAD v4 |
| 19 | g.15187216T= | CA2324747674 | NOTCH3 | c.1729A= (p.Thr577=) c.1726A= (p.Thr576=) | |
| 19 | g.15187217G>A | CA9263567 | NOTCH3 | c.1728C>T (p.Gly576=) c.1725C>T (p.Gly575=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187217G>C | CA506078494 | NOTCH3 | c.1728C>G (p.Gly576=) c.1725C>G (p.Gly575=) | |
| 19 | g.15187217G= | CA2324747675 | NOTCH3 | c.1728C= (p.Gly576=) c.1725C= (p.Gly575=) | |
| 19 | g.15187217G>T | CA506078495 | NOTCH3 | c.1728C>A (p.Gly576=) c.1725C>A (p.Gly575=) | |
| 19 | g.15187218C>A | CA404525069 | NOTCH3 | c.1727G>T (p.Gly576Val) c.1724G>T (p.Gly575Val) | dbSNP |
| 19 | g.15187218C>G | CA404525071 | NOTCH3 | c.1727G>C (p.Gly576Ala) c.1724G>C (p.Gly575Ala) | |
| 19 | g.15187218C>T | CA404525072 | NOTCH3 | c.1727G>A (p.Gly576Asp) c.1724G>A (p.Gly575Asp) | dbSNP |
| 19 | g.15187219C>A | CA404525075 | NOTCH3 | c.1726G>T (p.Gly576Cys) c.1723G>T (p.Gly575Cys) | |
| 19 | g.15187219C= | CA2324747676 | NOTCH3 | c.1726G= (p.Gly576=) c.1723G= (p.Gly575=) | |
| 19 | g.15187219C>G | CA404525078 | NOTCH3 | c.1726G>C (p.Gly576Arg) c.1723G>C (p.Gly575Arg) | |
| 19 | g.15187219C>T | CA404525079 | NOTCH3 | c.1726G>A (p.Gly576Ser) c.1723G>A (p.Gly575Ser) | dbSNP |
| 19 | g.15187220C>A | CA305774906 | NOTCH3 | c.1725G>T (p.Thr575=) c.1722G>T (p.Thr574=) | dbSNP gnomAD v4 |
| 19 | g.15187220C= | CA2324747677 | NOTCH3 | c.1725G= (p.Thr575=) c.1722G= (p.Thr574=) | |
| 19 | g.15187220C>G | CA9263569 | NOTCH3 | c.1725G>C (p.Thr575=) c.1722G>C (p.Thr574=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187220C>T | CA9263568 | NOTCH3 | c.1725G>A (p.Thr575=) c.1722G>A (p.Thr574=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187221G>A | CA9263570 | NOTCH3 | c.1724C>T (p.Thr575Met) c.1721C>T (p.Thr574Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187221G>C | CA404525086 | NOTCH3 | c.1724C>G (p.Thr575Arg) c.1721C>G (p.Thr574Arg) | |
| 19 | g.15187221G= | CA2324747678 | NOTCH3 | c.1724C= (p.Thr575=) c.1721C= (p.Thr574=) | |
| 19 | g.15187221G>T | CA404525089 | NOTCH3 | c.1724C>A (p.Thr575Lys) c.1721C>A (p.Thr574Lys) | |
| 19 | g.15187222T>A | CA404525092 | NOTCH3 | c.1723A>T (p.Thr575Ser) c.1720A>T (p.Thr574Ser) | gnomAD v4 |
| 19 | g.15187222T>C | CA404525094 | NOTCH3 | c.1723A>G (p.Thr575Ala) c.1720A>G (p.Thr574Ala) | |
| 19 | g.15187222T>G | CA404525096 | NOTCH3 | c.1723A>C (p.Thr575Pro) c.1720A>C (p.Thr574Pro) | |
| 19 | g.15187223G>A | CA506078499 | NOTCH3 | c.1722C>T (p.Tyr574=) c.1719C>T (p.Tyr573=) | dbSNP |
| 19 | g.15187223G>C | CA404525102 | NOTCH3 | c.1722C>G (p.Tyr574Ter) c.1719C>G (p.Tyr573Ter) | |
| 19 | g.15187223G>T | CA404525099 | NOTCH3 | c.1722C>A (p.Tyr574Ter) c.1719C>A (p.Tyr573Ter) | |
| 19 | g.15187224T>A | CA404525103 | NOTCH3 | c.1721A>T (p.Tyr574Phe) c.1718A>T (p.Tyr573Phe) | |
| 19 | g.15187224T>C | CA404525105 | NOTCH3 | c.1721A>G (p.Tyr574Cys) c.1718A>G (p.Tyr573Cys) | COSMIC COSMIC |
| 19 | g.15187224T>G | CA404525107 | NOTCH3 | c.1721A>C (p.Tyr574Ser) c.1718A>C (p.Tyr573Ser) | dbSNP |
| 19 | g.15187225A= | CA2324747679 | NOTCH3 | c.1720T= (p.Tyr574=) c.1717T= (p.Tyr573=) | |
| 19 | g.15187225A>C | CA404525109 | NOTCH3 | c.1720T>G (p.Tyr574Asp) c.1717T>G (p.Tyr573Asp) | |
| 19 | g.15187225A>G | CA404525111 | NOTCH3 | c.1720T>C (p.Tyr574His) c.1717T>C (p.Tyr573His) | ClinVar dbSNP gnomAD v2 |
| 19 | g.15187225A>T | CA404525112 | NOTCH3 | c.1720T>A (p.Tyr574Asn) c.1717T>A (p.Tyr573Asn) | gnomAD v4 |
| 19 | g.15187226G>A | CA506078502 | NOTCH3 | c.1719C>T (p.Gly573=) c.1716C>T (p.Gly572=) | |
| 19 | g.15187226G>C | CA506078504 | NOTCH3 | c.1719C>G (p.Gly573=) c.1716C>G (p.Gly572=) | |
| 19 | g.15187226G>T | CA506078505 | NOTCH3 | c.1719C>A (p.Gly573=) c.1716C>A (p.Gly572=) | |
| 19 | g.15187227C>A | CA404525115 | NOTCH3 | c.1718G>T (p.Gly573Val) c.1715G>T (p.Gly572Val) | dbSNP |
| 19 | g.15187227C>G | CA404525119 | NOTCH3 | c.1718G>C (p.Gly573Ala) c.1715G>C (p.Gly572Ala) | |
| 19 | g.15187227C>T | CA404525116 | NOTCH3 | c.1718G>A (p.Gly573Asp) c.1715G>A (p.Gly572Asp) | dbSNP gnomAD v4 |
| 19 | g.15187228C>A | CA404525121 | NOTCH3 | c.1717G>T (p.Gly573Cys) c.1714G>T (p.Gly572Cys) | |
| 19 | g.15187228C>G | CA404525123 | NOTCH3 | c.1717G>C (p.Gly573Arg) c.1714G>C (p.Gly572Arg) | |
| 19 | g.15187228C>T | CA404525126 | NOTCH3 | c.1717G>A (p.Gly573Ser) c.1714G>A (p.Gly572Ser) | |
| 19 | g.15187229A>C | CA506078509 | NOTCH3 | c.1716T>G (p.Pro572=) c.1713T>G (p.Pro571=) | |
| 19 | g.15187229A>G | CA506078511 | NOTCH3 | c.1716T>C (p.Pro572=) c.1713T>C (p.Pro571=) | |
| 19 | g.15187229A>T | CA506078510 | NOTCH3 | c.1716T>A (p.Pro572=) c.1713T>A (p.Pro571=) | |
| 19 | g.15187230G>A | CA9263571 | NOTCH3 | c.1715C>T (p.Pro572Leu) c.1712C>T (p.Pro571Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187230G>C | CA404525128 | NOTCH3 | c.1715C>G (p.Pro572Arg) c.1712C>G (p.Pro571Arg) | |
| 19 | g.15187230G= | CA2324747680 | NOTCH3 | c.1715C= (p.Pro572=) c.1712C= (p.Pro571=) | |
| 19 | g.15187230G>T | CA404525130 | NOTCH3 | c.1715C>A (p.Pro572His) c.1712C>A (p.Pro571His) | |
| 19 | g.15187231G>A | CA404525131 | NOTCH3 | c.1714C>T (p.Pro572Ser) c.1711C>T (p.Pro571Ser) | gnomAD v4 |
| 19 | g.15187231G>C | CA404525133 | NOTCH3 | c.1714C>G (p.Pro572Ala) c.1711C>G (p.Pro571Ala) | |
| 19 | g.15187231G>T | CA404525134 | NOTCH3 | c.1714C>A (p.Pro572Thr) c.1711C>A (p.Pro571Thr) | |
| 19 | g.15187232A>C | CA506078515 | NOTCH3 | c.1713T>G (p.Ala571=) c.1710T>G (p.Ala570=) | |
| 19 | g.15187232A>G | CA506078516 | NOTCH3 | c.1713T>C (p.Ala571=) c.1710T>C (p.Ala570=) | |
| 19 | g.15187232A>T | CA506078517 | NOTCH3 | c.1713T>A (p.Ala571=) c.1710T>A (p.Ala570=) | |
| 19 | g.15187233G>A | CA404525138 | NOTCH3 | c.1712C>T (p.Ala571Val) c.1709C>T (p.Ala570Val) | dbSNP gnomAD v4 |
| 19 | g.15187233G>C | CA404525139 | NOTCH3 | c.1712C>G (p.Ala571Gly) c.1709C>G (p.Ala570Gly) | |
| 19 | g.15187233G>T | CA404525140 | NOTCH3 | c.1712C>A (p.Ala571Asp) c.1709C>A (p.Ala570Asp) | |
| 19 | g.15187233_15187236delinsGCAC | CA2324747681 | NOTCH3 | c.1709_1712delinsGTGC (p.Cys570=) c.1706_1709delinsGTGC (p.Cys569=) | |
| 19 | g.15187234C>A | CA404525147 | NOTCH3 | c.1711G>T (p.Ala571Ser) c.1708G>T (p.Ala570Ser) | |
| 19 | g.15187234C>G | CA404525144 | NOTCH3 | c.1711G>C (p.Ala571Pro) c.1708G>C (p.Ala570Pro) | |
| 19 | g.15187234C>T | CA404525143 | NOTCH3 | c.1711G>A (p.Ala571Thr) c.1708G>A (p.Ala570Thr) | gnomAD v4 |
| 19 | g.15187234_15187236del | CA783619313 | NOTCH3 | c.1709_1711del (p.Cys570_Ala571delinsSer) c.1706_1708del (p.Cys569_Ala570delinsSer) | dbSNP |
| 19 | g.15187235A>C | CA404525148 | NOTCH3 | c.1710T>G (p.Cys570Trp) c.1707T>G (p.Cys569Trp) | |
| 19 | g.15187235A>G | CA506078520 | NOTCH3 | c.1710T>C (p.Cys570=) c.1707T>C (p.Cys569=) | |
| 19 | g.15187235A>T | CA404525150 | NOTCH3 | c.1710T>A (p.Cys570Ter) c.1707T>A (p.Cys569Ter) | |
| 19 | g.15187236C>A | CA404525153 | NOTCH3 | c.1709G>T (p.Cys570Phe) c.1706G>T (p.Cys569Phe) | ClinVar dbSNP |
| 19 | g.15187236C>G | CA404525156 | NOTCH3 | c.1709G>C (p.Cys570Ser) c.1706G>C (p.Cys569Ser) | |
| 19 | g.15187236C>T | CA404525154 | NOTCH3 | c.1709G>A (p.Cys570Tyr) c.1706G>A (p.Cys569Tyr) | |
| 19 | g.15187237A>C | CA404525158 | NOTCH3 | c.1708T>G (p.Cys570Gly) c.1705T>G (p.Cys569Gly) | |
| 19 | g.15187237A>G | CA404525160 | NOTCH3 | c.1708T>C (p.Cys570Arg) c.1705T>C (p.Cys569Arg) | dbSNP |
| 19 | g.15187237A>T | CA404525162 | NOTCH3 | c.1708T>A (p.Cys570Ser) c.1705T>A (p.Cys569Ser) | |
| 19 | g.15187238G>A | CA506078522 | NOTCH3 | c.1707C>T (p.Ala569=) c.1704C>T (p.Ala568=) | gnomAD v4 |
| 19 | g.15187238G>C | CA506078523 | NOTCH3 | c.1707C>G (p.Ala569=) c.1704C>G (p.Ala568=) | |
| 19 | g.15187238G>T | CA506078524 | NOTCH3 | c.1707C>A (p.Ala569=) c.1704C>A (p.Ala568=) | |
| 19 | g.15187239G>A | CA404525164 | NOTCH3 | c.1706C>T (p.Ala569Val) c.1703C>T (p.Ala568Val) | gnomAD v4 |
| 19 | g.15187239G>C | CA404525170 | NOTCH3 | c.1706C>G (p.Ala569Gly) c.1703C>G (p.Ala568Gly) | |
| 19 | g.15187239G>T | CA404525171 | NOTCH3 | c.1706C>A (p.Ala569Asp) c.1703C>A (p.Ala568Asp) | |
| 19 | g.15187240C>A | CA404525175 | NOTCH3 | c.1705G>T (p.Ala569Ser) c.1702G>T (p.Ala568Ser) | dbSNP |
| 19 | g.15187240C>G | CA404525173 | NOTCH3 | c.1705G>C (p.Ala569Pro) c.1702G>C (p.Ala568Pro) | |
| 19 | g.15187240C>T | CA404525174 | NOTCH3 | c.1705G>A (p.Ala569Thr) c.1702G>A (p.Ala568Thr) | gnomAD v4 |
| 19 | g.15187241A>C | CA404525176 | NOTCH3 | c.1704T>G (p.Cys568Trp) c.1701T>G (p.Cys567Trp) | |
| 19 | g.15187241A>G | CA506078526 | NOTCH3 | c.1704T>C (p.Cys568=) c.1701T>C (p.Cys567=) | gnomAD v4 |
| 19 | g.15187241A>T | CA404525177 | NOTCH3 | c.1704T>A (p.Cys568Ter) c.1701T>A (p.Cys567Ter) | |
| 19 | g.15187242C>A | CA404525179 | NOTCH3 | c.1703G>T (p.Cys568Phe) c.1700G>T (p.Cys567Phe) | |
| 19 | g.15187242C>G | CA404525181 | NOTCH3 | c.1703G>C (p.Cys568Ser) c.1700G>C (p.Cys567Ser) | |
| 19 | g.15187242C>T | CA404525182 | NOTCH3 | c.1703G>A (p.Cys568Tyr) c.1700G>A (p.Cys567Tyr) | |
| 19 | g.15187242_15187244delinsCAT | CA2324747682 | NOTCH3 | c.1701_1703delinsATG (p.Ser567=) c.1698_1700delinsATG (p.Ser566=) | |
| 19 | g.15187243A>C | CA404525186 | NOTCH3 | c.1702T>G (p.Cys568Gly) c.1699T>G (p.Cys567Gly) | |
| 19 | g.15187243A>G | CA404525184 | NOTCH3 | c.1702T>C (p.Cys568Arg) c.1699T>C (p.Cys567Arg) | ClinVar |
| 19 | g.15187243A>T | CA404525185 | NOTCH3 | c.1702T>A (p.Cys568Ser) c.1699T>A (p.Cys567Ser) | |
| 19 | g.15187243_15187244del | CA632128070 | NOTCH3 | c.1701_1702del (p.Ala569LeufsTer?) c.1698_1699del (p.Ala568LeufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187244T>A | CA506078528 | NOTCH3 | c.1701A>T (p.Ser567=) c.1698A>T (p.Ser566=) | |
| 19 | g.15187244T>C | CA506078529 | NOTCH3 | c.1701A>G (p.Ser567=) c.1698A>G (p.Ser566=) | |
| 19 | g.15187244T>G | CA506078530 | NOTCH3 | c.1701A>C (p.Ser567=) c.1698A>C (p.Ser566=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.15187244T= | CA2324747683 | NOTCH3 | c.1701A= (p.Ser567=) c.1698A= (p.Ser566=) | |
| 19 | g.15187245G>A | CA404525188 | NOTCH3 | c.1700C>T (p.Ser567Leu) c.1697C>T (p.Ser566Leu) | gnomAD v4 |
| 19 | g.15187245G>C | CA404525189 | NOTCH3 | c.1700C>G (p.Ser567Ter) c.1697C>G (p.Ser566Ter) | gnomAD v4 |
| 19 | g.15187245G= | CA2324747684 | NOTCH3 | c.1700C= (p.Ser567=) c.1697C= (p.Ser566=) | |
| 19 | g.15187245G>T | CA404525190 | NOTCH3 | c.1700C>A (p.Ser567Ter) c.1697C>A (p.Ser566Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187246A>C | CA404525192 | NOTCH3 | c.1699T>G (p.Ser567Ala) c.1696T>G (p.Ser566Ala) | |
| 19 | g.15187246A>G | CA404525193 | NOTCH3 | c.1699T>C (p.Ser567Pro) c.1696T>C (p.Ser566Pro) | |
| 19 | g.15187246A>T | CA404525194 | NOTCH3 | c.1699T>A (p.Ser567Thr) c.1696T>A (p.Ser566Thr) | |
| 19 | g.15187247G>A | CA9263572 | NOTCH3 | c.1698C>T (p.Phe566=) c.1695C>T (p.Phe565=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187247G>C | CA404525196 | NOTCH3 | c.1698C>G (p.Phe566Leu) c.1695C>G (p.Phe565Leu) | ClinVar |
| 19 | g.15187247G= | CA2324747685 | NOTCH3 | c.1698C= (p.Phe566=) c.1695C= (p.Phe565=) | |
| 19 | g.15187247G>T | CA404525198 | NOTCH3 | c.1698C>A (p.Phe566Leu) c.1695C>A (p.Phe565Leu) | |
| 19 | g.15187248A>C | CA404525200 | NOTCH3 | c.1697T>G (p.Phe566Cys) c.1694T>G (p.Phe565Cys) | |
| 19 | g.15187248A>G | CA404525201 | NOTCH3 | c.1697T>C (p.Phe566Ser) c.1694T>C (p.Phe565Ser) | dbSNP |
| 19 | g.15187248A>T | CA404525203 | NOTCH3 | c.1697T>A (p.Phe566Tyr) c.1694T>A (p.Phe565Tyr) | |
| 19 | g.15187249A>C | CA404525827 | NOTCH3 | c.1696T>G (p.Phe566Val) c.1693T>G (p.Phe565Val) | |
| 19 | g.15187249A>G | CA404525832 | NOTCH3 | c.1696T>C (p.Phe566Leu) c.1693T>C (p.Phe565Leu) | |
| 19 | g.15187249A>T | CA404525830 | NOTCH3 | c.1696T>A (p.Phe566Ile) c.1693T>A (p.Phe565Ile) | |
| 19 | g.15187250G>A | CA505827317 | NOTCH3 | c.1695C>T (p.Ser565=) c.1692C>T (p.Ser564=) | |
| 19 | g.15187250G>C | CA404525834 | NOTCH3 | c.1695C>G (p.Ser565Arg) c.1692C>G (p.Ser564Arg) | |
| 19 | g.15187250G>T | CA404525836 | NOTCH3 | c.1695C>A (p.Ser565Arg) c.1692C>A (p.Ser564Arg) | |
| 19 | g.15187251C>A | CA404525838 | NOTCH3 | c.1694G>T (p.Ser565Ile) c.1691G>T (p.Ser564Ile) | |
| 19 | g.15187251C= | CA2324747686 | NOTCH3 | c.1694G= (p.Ser565=) c.1691G= (p.Ser564=) | |
| 19 | g.15187251C>G | CA9263574 | NOTCH3 | c.1694G>C (p.Ser565Thr) c.1691G>C (p.Ser564Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187251C>T | CA9263573 | NOTCH3 | c.1694G>A (p.Ser565Asn) c.1691G>A (p.Ser564Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187252T>A | CA404525841 | NOTCH3 | c.1693A>T (p.Ser565Cys) c.1690A>T (p.Ser564Cys) | |
| 19 | g.15187252T>C | CA404525843 | NOTCH3 | c.1693A>G (p.Ser565Gly) c.1690A>G (p.Ser564Gly) | |
| 19 | g.15187252T>G | CA404525845 | NOTCH3 | c.1693A>C (p.Ser565Arg) c.1690A>C (p.Ser564Arg) | |
| 19 | g.15187253G>A | CA9263575 | NOTCH3 | c.1692C>T (p.Ala564=) c.1689C>T (p.Ala563=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187253G>C | CA505827318 | NOTCH3 | c.1692C>G (p.Ala564=) c.1689C>G (p.Ala563=) | |
| 19 | g.15187253G= | CA2324747687 | NOTCH3 | c.1692C= (p.Ala564=) c.1689C= (p.Ala563=) | |
| 19 | g.15187253G>T | CA505827319 | NOTCH3 | c.1692C>A (p.Ala564=) c.1689C>A (p.Ala563=) | |
| 19 | g.15187254G>A | CA404525848 | NOTCH3 | c.1691C>T (p.Ala564Val) c.1688C>T (p.Ala563Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15187254G>C | CA404525849 | NOTCH3 | c.1691C>G (p.Ala564Gly) c.1688C>G (p.Ala563Gly) | |
| 19 | g.15187254G= | CA2324747688 | NOTCH3 | c.1691C= (p.Ala564=) c.1688C= (p.Ala563=) | |
| 19 | g.15187254G>T | CA9263576 | NOTCH3 | c.1691C>A (p.Ala564Asp) c.1688C>A (p.Ala563Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187255C>A | CA9263578 | NOTCH3 | c.1690G>T (p.Ala564Ser) c.1687G>T (p.Ala563Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15187255C= | CA2324747689 | NOTCH3 | c.1690G= (p.Ala564=) c.1687G= (p.Ala563=) | |
| 19 | g.15187255C>G | CA404525852 | NOTCH3 | c.1690G>C (p.Ala564Pro) c.1687G>C (p.Ala563Pro) | |
| 19 | g.15187255C>T | CA9263577 | NOTCH3 | c.1690G>A (p.Ala564Thr) c.1687G>A (p.Ala563Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.15187256G>A | CA9263579 | NOTCH3 | c.1689C>T (p.Ile563=) c.1686C>T (p.Ile562=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187256G>C | CA404525866 | NOTCH3 | c.1689C>G (p.Ile563Met) c.1686C>G (p.Ile562Met) | |
| 19 | g.15187256G= | CA2324747690 | NOTCH3 | c.1689C= (p.Ile563=) c.1686C= (p.Ile562=) | |
| 19 | g.15187256G>T | CA505827320 | NOTCH3 | c.1689C>A (p.Ile563=) c.1686C>A (p.Ile562=) | |
| 19 | g.15187257A>C | CA404525868 | NOTCH3 | c.1688T>G (p.Ile563Ser) c.1685T>G (p.Ile562Ser) | dbSNP |
| 19 | g.15187257A>G | CA404525870 | NOTCH3 | c.1688T>C (p.Ile563Thr) c.1685T>C (p.Ile562Thr) | |
| 19 | g.15187257A>T | CA404525871 | NOTCH3 | c.1688T>A (p.Ile563Asn) c.1685T>A (p.Ile562Asn) | |
| 19 | g.15187258T>A | CA404525874 | NOTCH3 | c.1687A>T (p.Ile563Phe) c.1684A>T (p.Ile562Phe) | |
| 19 | g.15187258T>C | CA404525877 | NOTCH3 | c.1687A>G (p.Ile563Val) c.1684A>G (p.Ile562Val) | |
| 19 | g.15187258T>G | CA404525878 | NOTCH3 | c.1687A>C (p.Ile563Leu) c.1684A>C (p.Ile562Leu) | gnomAD v4 |
| 19 | g.15187259G>A | CA505827321 | NOTCH3 | c.1686C>T (p.Gly562=) c.1683C>T (p.Gly561=) | dbSNP |
| 19 | g.15187259G>C | CA505827322 | NOTCH3 | c.1686C>G (p.Gly562=) c.1683C>G (p.Gly561=) | |
| 19 | g.15187259G= | CA2324747691 | NOTCH3 | c.1686C= (p.Gly562=) c.1683C= (p.Gly561=) | |
| 19 | g.15187259G>T | CA505827323 | NOTCH3 | c.1686C>A (p.Gly562=) c.1683C>A (p.Gly561=) | |
| 19 | g.15187260C>A | CA404525880 | NOTCH3 | c.1685G>T (p.Gly562Val) c.1682G>T (p.Gly561Val) | |
| 19 | g.15187260C>G | CA404525882 | NOTCH3 | c.1685G>C (p.Gly562Ala) c.1682G>C (p.Gly561Ala) | |
| 19 | g.15187260C>T | CA404525885 | NOTCH3 | c.1685G>A (p.Gly562Asp) c.1682G>A (p.Gly561Asp) | dbSNP |
| 19 | g.15187261C>A | CA404525896 | NOTCH3 | c.1684G>T (p.Gly562Cys) c.1681G>T (p.Gly561Cys) | |
| 19 | g.15187261C>G | CA404525894 | NOTCH3 | c.1684G>C (p.Gly562Arg) c.1681G>C (p.Gly561Arg) | |
| 19 | g.15187261C>T | CA404525891 | NOTCH3 | c.1684G>A (p.Gly562Ser) c.1681G>A (p.Gly561Ser) | dbSNP gnomAD v4 |
| 19 | g.15187262A>C | CA404525899 | NOTCH3 | c.1683T>G (p.Asp561Glu) c.1680T>G (p.Asp560Glu) | dbSNP |
| 19 | g.15187262A>G | CA505827324 | NOTCH3 | c.1683T>C (p.Asp561=) c.1680T>C (p.Asp560=) | gnomAD v4 |
| 19 | g.15187262A>T | CA404525901 | NOTCH3 | c.1683T>A (p.Asp561Glu) c.1680T>A (p.Asp560Glu) | dbSNP |
| 19 | g.15187263T>A | CA404525903 | NOTCH3 | c.1682A>T (p.Asp561Val) c.1679A>T (p.Asp560Val) | |
| 19 | g.15187263T>C | CA404525906 | NOTCH3 | c.1682A>G (p.Asp561Gly) c.1679A>G (p.Asp560Gly) | |
| 19 | g.15187263T>G | CA404525909 | NOTCH3 | c.1682A>C (p.Asp561Ala) c.1679A>C (p.Asp560Ala) | |
| 19 | g.15187264C>A | CA404525910 | NOTCH3 | c.1681G>T (p.Asp561Tyr) c.1678G>T (p.Asp560Tyr) | dbSNP |
| 19 | g.15187264C>G | CA404525912 | NOTCH3 | c.1681G>C (p.Asp561His) c.1678G>C (p.Asp560His) | dbSNP |
| 19 | g.15187264C>T | CA404525913 | NOTCH3 | c.1681G>A (p.Asp561Asn) c.1678G>A (p.Asp560Asn) | gnomAD v4 |
| 19 | g.15187265C>A | CA505827325 | NOTCH3 | c.1680G>T (p.Val560=) c.1677G>T (p.Val559=) | |
| 19 | g.15187265C>G | CA505827326 | NOTCH3 | c.1680G>C (p.Val560=) c.1677G>C (p.Val559=) | |
| 19 | g.15187265C>T | CA505827327 | NOTCH3 | c.1680G>A (p.Val560=) c.1677G>A (p.Val559=) | |
| 19 | g.15187266A>C | CA404525914 | NOTCH3 | c.1679T>G (p.Val560Gly) c.1676T>G (p.Val559Gly) | dbSNP |
| 19 | g.15187266A>G | CA404525915 | NOTCH3 | c.1679T>C (p.Val560Ala) c.1676T>C (p.Val559Ala) | |
| 19 | g.15187266A>T | CA404525916 | NOTCH3 | c.1679T>A (p.Val560Glu) c.1676T>A (p.Val559Glu) | |
| 19 | g.15187267C>A | CA404525917 | NOTCH3 | c.1678G>T (p.Val560Leu) c.1675G>T (p.Val559Leu) | |
| 19 | g.15187267C= | CA2324747692 | NOTCH3 | c.1678G= (p.Val560=) c.1675G= (p.Val559=) | |
| 19 | g.15187267C>G | CA404525918 | NOTCH3 | c.1678G>C (p.Val560Leu) c.1675G>C (p.Val559Leu) | |
| 19 | g.15187267C>T | CA9263580 | NOTCH3 | c.1678G>A (p.Val560Met) c.1675G>A (p.Val559Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187268G>A | CA9263581 | NOTCH3 | c.1677C>T (p.Cys559=) c.1674C>T (p.Cys558=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187268G>C | CA404525922 | NOTCH3 | c.1677C>G (p.Cys559Trp) c.1674C>G (p.Cys558Trp) | |
| 19 | g.15187268G= | CA2324747693 | NOTCH3 | c.1677C= (p.Cys559=) c.1674C= (p.Cys558=) | |
| 19 | g.15187268G>T | CA404525920 | NOTCH3 | c.1677C>A (p.Cys559Ter) c.1674C>A (p.Cys558Ter) | |
| 19 | g.15187269C>A | CA404525923 | NOTCH3 | c.1676G>T (p.Cys559Phe) c.1673G>T (p.Cys558Phe) | |
| 19 | g.15187269C>G | CA404525925 | NOTCH3 | c.1676G>C (p.Cys559Ser) c.1673G>C (p.Cys558Ser) | |
| 19 | g.15187269C>T | CA404525926 | NOTCH3 | c.1676G>A (p.Cys559Tyr) c.1673G>A (p.Cys558Tyr) | ClinVar dbSNP |
| 19 | g.15187270A>C | CA404525928 | NOTCH3 | c.1675T>G (p.Cys559Gly) c.1672T>G (p.Cys558Gly) | |
| 19 | g.15187270A>G | CA404525930 | NOTCH3 | c.1675T>C (p.Cys559Arg) c.1672T>C (p.Cys558Arg) | |
| 19 | g.15187270A>T | CA404525931 | NOTCH3 | c.1675T>A (p.Cys559Ser) c.1672T>A (p.Cys558Ser) | |
| 19 | g.15187271G>A | CA505827328 | NOTCH3 | c.1674C>T (p.Arg558=) c.1671C>T (p.Arg557=) | COSMIC COSMIC |
| 19 | g.15187271G>C | CA505827330 | NOTCH3 | c.1674C>G (p.Arg558=) c.1671C>G (p.Arg557=) | |
| 19 | g.15187271G>T | CA505827329 | NOTCH3 | c.1674C>A (p.Arg558=) c.1671C>A (p.Arg557=) | gnomAD v4 |
| 19 | g.15187272C>A | CA404525933 | NOTCH3 | c.1673G>T (p.Arg558Leu) c.1670G>T (p.Arg557Leu) | gnomAD v4 |
| 19 | g.15187272C= | CA2324747694 | NOTCH3 | c.1673G= (p.Arg558=) c.1670G= (p.Arg557=) | |
| 19 | g.15187272C>G | CA404525935 | NOTCH3 | c.1673G>C (p.Arg558Pro) c.1670G>C (p.Arg557Pro) | gnomAD v4 |
| 19 | g.15187272C>T | CA9263582 | NOTCH3 | c.1673G>A (p.Arg558His) c.1670G>A (p.Arg557His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187273G>A | CA9263584 | NOTCH3 | c.1672C>T (p.Arg558Cys) c.1669C>T (p.Arg557Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187273G>C | CA9263583 | NOTCH3 | c.1672C>G (p.Arg558Gly) c.1669C>G (p.Arg557Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15187273G= | CA2324747695 | NOTCH3 | c.1672C= (p.Arg558=) c.1669C= (p.Arg557=) | |
| 19 | g.15187273G>T | CA305774976 | NOTCH3 | c.1672C>A (p.Arg558Ser) c.1669C>A (p.Arg557Ser) | dbSNP |