Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
19 | g.15187274A= | CA2324747696 | NOTCH3 | c.1671T= (p.Gly557=) c.1668T= (p.Gly556=) | |
19 | g.15187274A>C | CA505827331 | NOTCH3 | c.1671T>G (p.Gly557=) c.1668T>G (p.Gly556=) | |
19 | g.15187274A>G | CA505827333 | NOTCH3 | c.1671T>C (p.Gly557=) c.1668T>C (p.Gly556=) | |
19 | g.15187274A>T | CA505827332 | NOTCH3 | c.1671T>A (p.Gly557=) c.1668T>A (p.Gly556=) | dbSNP |
19 | g.15187275C>A | CA404525942 | NOTCH3 | c.1670G>T (p.Gly557Val) c.1667G>T (p.Gly556Val) | |
19 | g.15187275C>G | CA404525941 | NOTCH3 | c.1670G>C (p.Gly557Ala) c.1667G>C (p.Gly556Ala) | |
19 | g.15187275C>T | CA404525939 | NOTCH3 | c.1670G>A (p.Gly557Asp) c.1667G>A (p.Gly556Asp) | |
19 | g.15187276C>A | CA404525944 | NOTCH3 | c.1669G>T (p.Gly557Cys) c.1666G>T (p.Gly556Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.15187276C= | CA2324747697 | NOTCH3 | c.1669G= (p.Gly557=) c.1666G= (p.Gly556=) | |
19 | g.15187276C>G | CA404525946 | NOTCH3 | c.1669G>C (p.Gly557Arg) c.1666G>C (p.Gly556Arg) | |
19 | g.15187276C>T | CA404525948 | NOTCH3 | c.1669G>A (p.Gly557Ser) c.1666G>A (p.Gly556Ser) | |
19 | g.15187277A>C | CA404525949 | NOTCH3 | c.1668T>G (p.His556Gln) c.1665T>G (p.His555Gln) | |
19 | g.15187277A>G | CA505827334 | NOTCH3 | c.1668T>C (p.His556=) c.1665T>C (p.His555=) | |
19 | g.15187277A>T | CA404525950 | NOTCH3 | c.1668T>A (p.His556Gln) c.1665T>A (p.His555Gln) | |
19 | g.15187278T>A | CA404525951 | NOTCH3 | c.1667A>T (p.His556Leu) c.1664A>T (p.His555Leu) | |
19 | g.15187278T>C | CA9263585 | NOTCH3 | c.1667A>G (p.His556Arg) c.1664A>G (p.His555Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15187278T>G | CA404525952 | NOTCH3 | c.1667A>C (p.His556Pro) c.1664A>C (p.His555Pro) | |
19 | g.15187278T= | CA2324747698 | NOTCH3 | c.1667A= (p.His556=) c.1664A= (p.His555=) | |
19 | g.15187279G>A | CA404525954 | NOTCH3 | c.1666C>T (p.His556Tyr) c.1663C>T (p.His555Tyr) | dbSNP gnomAD v4 |
19 | g.15187279G>C | CA404525955 | NOTCH3 | c.1666C>G (p.His556Asp) c.1663C>G (p.His555Asp) | |
19 | g.15187279G= | CA2324747699 | NOTCH3 | c.1666C= (p.His556=) c.1663C= (p.His555=) | |
19 | g.15187279G>T | CA404525957 | NOTCH3 | c.1666C>A (p.His556Asn) c.1663C>A (p.His555Asn) | |
19 | g.15187280G>A | CA505827335 | NOTCH3 | c.1665C>T (p.His555=) c.1662C>T (p.His554=) | |
19 | g.15187280G>C | CA404525958 | NOTCH3 | c.1665C>G (p.His555Gln) c.1662C>G (p.His554Gln) | |
19 | g.15187280G= | CA2324747700 | NOTCH3 | c.1665C= (p.His555=) c.1662C= (p.His554=) | |
19 | g.15187280G>T | CA9263586 | NOTCH3 | c.1665C>A (p.His555Gln) c.1662C>A (p.His554Gln) | dbSNP ExAC gnomAD v2 |
19 | g.15187281T>A | CA404525965 | NOTCH3 | c.1664A>T (p.His555Leu) c.1661A>T (p.His554Leu) | |
19 | g.15187281T>C | CA404525961 | NOTCH3 | c.1664A>G (p.His555Arg) c.1661A>G (p.His554Arg) | |
19 | g.15187281T>G | CA404525963 | NOTCH3 | c.1664A>C (p.His555Pro) c.1661A>C (p.His554Pro) | |
19 | g.15187282G>A | CA404525966 | NOTCH3 | c.1663C>T (p.His555Tyr) c.1660C>T (p.His554Tyr) | dbSNP |
19 | g.15187282G>C | CA404525968 | NOTCH3 | c.1663C>G (p.His555Asp) c.1660C>G (p.His554Asp) | |
19 | g.15187282G= | CA2324747701 | NOTCH3 | c.1663C= (p.His555=) c.1660C= (p.His554=) | |
19 | g.15187282G>T | CA404525970 | NOTCH3 | c.1663C>A (p.His555Asn) c.1660C>A (p.His554Asn) | |
19 | g.15187283G>A | CA9263587 | NOTCH3 | c.1662C>T (p.Cys554=) c.1659C>T (p.Cys553=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.15187283G>C | CA404525972 | NOTCH3 | c.1662C>G (p.Cys554Trp) c.1659C>G (p.Cys553Trp) | |
19 | g.15187283G= | CA2324747702 | NOTCH3 | c.1662C= (p.Cys554=) c.1659C= (p.Cys553=) | |
19 | g.15187283G>T | CA404525974 | NOTCH3 | c.1662C>A (p.Cys554Ter) c.1659C>A (p.Cys553Ter) | |
19 | g.15187284C>A | CA404525976 | NOTCH3 | c.1661G>T (p.Cys554Phe) c.1658G>T (p.Cys553Phe) | gnomAD v4 |
19 | g.15187284C>G | CA404525977 | NOTCH3 | c.1661G>C (p.Cys554Ser) c.1658G>C (p.Cys553Ser) | |
19 | g.15187284C>T | CA404525978 | NOTCH3 | c.1661G>A (p.Cys554Tyr) c.1658G>A (p.Cys553Tyr) | dbSNP |
19 | g.15187285A>C | CA404525981 | NOTCH3 | c.1660T>G (p.Cys554Gly) c.1657T>G (p.Cys553Gly) | |
19 | g.15187285A>G | CA404525982 | NOTCH3 | c.1660T>C (p.Cys554Arg) c.1657T>C (p.Cys553Arg) | |
19 | g.15187285A>T | CA404525984 | NOTCH3 | c.1660T>A (p.Cys554Ser) c.1657T>A (p.Cys553Ser) | |
19 | g.15187286T>A | CA505827336 | NOTCH3 | c.1659A>T (p.Pro553=) c.1656A>T (p.Pro552=) | |
19 | g.15187286T>C | CA9263588 | NOTCH3 | c.1659A>G (p.Pro553=) c.1656A>G (p.Pro552=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15187286T>G | CA505827337 | NOTCH3 | c.1659A>C (p.Pro553=) c.1656A>C (p.Pro552=) | |
19 | g.15187286T= | CA2324747703 | NOTCH3 | c.1659A= (p.Pro553=) c.1656A= (p.Pro552=) | |
19 | g.15187287G>A | CA404525987 | NOTCH3 | c.1658C>T (p.Pro553Leu) c.1655C>T (p.Pro552Leu) | gnomAD v4 |
19 | g.15187287G>C | CA404525985 | NOTCH3 | c.1658C>G (p.Pro553Arg) c.1655C>G (p.Pro552Arg) | |
19 | g.15187287G>T | CA404525988 | NOTCH3 | c.1658C>A (p.Pro553Gln) c.1655C>A (p.Pro552Gln) | |
19 | g.15187288G>A | CA404525989 | NOTCH3 | c.1657C>T (p.Pro553Ser) c.1654C>T (p.Pro552Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15187288G>C | CA404525992 | NOTCH3 | c.1657C>G (p.Pro553Ala) c.1654C>G (p.Pro552Ala) | |
19 | g.15187288G= | CA2324747704 | NOTCH3 | c.1657C= (p.Pro553=) c.1654C= (p.Pro552=) | |
19 | g.15187288G>T | CA404525990 | NOTCH3 | c.1657C>A (p.Pro553Thr) c.1654C>A (p.Pro552Thr) | dbSNP |
19 | g.15187289G>A | CA505827338 | NOTCH3 | c.1656C>T (p.Asp552=) c.1653C>T (p.Asp551=) | dbSNP gnomAD v2 |
19 | g.15187289G>C | CA404525994 | NOTCH3 | c.1656C>G (p.Asp552Glu) c.1653C>G (p.Asp551Glu) | |
19 | g.15187289G= | CA2324747705 | NOTCH3 | c.1656C= (p.Asp552=) c.1653C= (p.Asp551=) | |
19 | g.15187289G>T | CA404525995 | NOTCH3 | c.1656C>A (p.Asp552Glu) c.1653C>A (p.Asp551Glu) | |
19 | g.15187290T>A | CA404525997 | NOTCH3 | c.1655A>T (p.Asp552Val) c.1652A>T (p.Asp551Val) | dbSNP |
19 | g.15187290T>C | CA305774991 | NOTCH3 | c.1655A>G (p.Asp552Gly) c.1652A>G (p.Asp551Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15187290T>G | CA404525999 | NOTCH3 | c.1655A>C (p.Asp552Ala) c.1652A>C (p.Asp551Ala) | dbSNP |
19 | g.15187290T= | CA2324747706 | NOTCH3 | c.1655A= (p.Asp552=) c.1652A= (p.Asp551=) | |
19 | g.15187291C>A | CA404526001 | NOTCH3 | c.1654G>T (p.Asp552Tyr) c.1651G>T (p.Asp551Tyr) | gnomAD v4 |
19 | g.15187291C>G | CA404526002 | NOTCH3 | c.1654G>C (p.Asp552His) c.1651G>C (p.Asp551His) | |
19 | g.15187291C>T | CA404526004 | NOTCH3 | c.1654G>A (p.Asp552Asn) c.1651G>A (p.Asp551Asn) | |
19 | g.15187291_15187292delinsCA | CA2324747707 | NOTCH3 | c.1653_1654delinsTG (p.Pro551=) c.1650_1651delinsTG (p.Pro550=) | |
19 | g.15187292del | CA631945094 | NOTCH3 | c.1653del (p.Asp552ThrfsTer?) c.1650del (p.Asp551ThrfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15187292A>C | CA505827339 | NOTCH3 | c.1653T>G (p.Pro551=) c.1650T>G (p.Pro550=) | |
19 | g.15187292A>G | CA505827340 | NOTCH3 | c.1653T>C (p.Pro551=) c.1650T>C (p.Pro550=) | dbSNP |
19 | g.15187292A>T | CA505827341 | NOTCH3 | c.1653T>A (p.Pro551=) c.1650T>A (p.Pro550=) | |
19 | g.15187293G>A | CA404526006 | NOTCH3 | c.1652C>T (p.Pro551Leu) c.1649C>T (p.Pro550Leu) | |
19 | g.15187293G>C | CA404526008 | NOTCH3 | c.1652C>G (p.Pro551Arg) c.1649C>G (p.Pro550Arg) | |
19 | g.15187293G>T | CA404526009 | NOTCH3 | c.1652C>A (p.Pro551His) c.1649C>A (p.Pro550His) | |
19 | g.15187294G>A | CA9263589 | NOTCH3 | c.1651C>T (p.Pro551Ser) c.1648C>T (p.Pro550Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15187294G>C | CA404526013 | NOTCH3 | c.1651C>G (p.Pro551Ala) c.1648C>G (p.Pro550Ala) | |
19 | g.15187294G= | CA2324747708 | NOTCH3 | c.1651C= (p.Pro551=) c.1648C= (p.Pro550=) | |
19 | g.15187294G>T | CA404526011 | NOTCH3 | c.1651C>A (p.Pro551Thr) c.1648C>A (p.Pro550Thr) | |
19 | g.15187295G>A | CA305775005 | NOTCH3 | c.1650C>T (p.Ser550=) c.1647C>T (p.Ser549=) | dbSNP gnomAD v4 |
19 | g.15187295G>C | CA505827342 | NOTCH3 | c.1650C>G (p.Ser550=) c.1647C>G (p.Ser549=) | |
19 | g.15187295G= | CA2324747709 | NOTCH3 | c.1650C= (p.Ser550=) c.1647C= (p.Ser549=) | |
19 | g.15187295G>T | CA505827343 | NOTCH3 | c.1650C>A (p.Ser550=) c.1647C>A (p.Ser549=) | |
19 | g.15187296G>A | CA404526015 | NOTCH3 | c.1649C>T (p.Ser550Phe) c.1646C>T (p.Ser549Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.15187296G>C | CA404526016 | NOTCH3 | c.1649C>G (p.Ser550Cys) c.1646C>G (p.Ser549Cys) | |
19 | g.15187296G= | CA2324747710 | NOTCH3 | c.1649C= (p.Ser550=) c.1646C= (p.Ser549=) | |
19 | g.15187296G>T | CA404526018 | NOTCH3 | c.1649C>A (p.Ser550Tyr) c.1646C>A (p.Ser549Tyr) | |
19 | g.15187297A>C | CA404526019 | NOTCH3 | c.1648T>G (p.Ser550Ala) c.1645T>G (p.Ser549Ala) | |
19 | g.15187297A>G | CA404526021 | NOTCH3 | c.1648T>C (p.Ser550Pro) c.1645T>C (p.Ser549Pro) | |
19 | g.15187297A>T | CA404526023 | NOTCH3 | c.1648T>A (p.Ser550Thr) c.1645T>A (p.Ser549Thr) | |
19 | g.15187298G>A | CA505827344 | NOTCH3 | c.1647C>T (p.Cys549=) c.1644C>T (p.Cys548=) | |
19 | g.15187298G>C | CA404526024 | NOTCH3 | c.1647C>G (p.Cys549Trp) c.1644C>G (p.Cys548Trp) | |
19 | g.15187298G>T | CA404526026 | NOTCH3 | c.1647C>A (p.Cys549Ter) c.1644C>A (p.Cys548Ter) | |
19 | g.15187299C>A | CA404526028 | NOTCH3 | c.1646G>T (p.Cys549Phe) c.1643G>T (p.Cys548Phe) | dbSNP |
19 | g.15187299C= | CA2324747711 | NOTCH3 | c.1646G= (p.Cys549=) c.1643G= (p.Cys548=) | |
19 | g.15187299C>G | CA404526029 | NOTCH3 | c.1646G>C (p.Cys549Ser) c.1643G>C (p.Cys548Ser) | ClinVar |
19 | g.15187299C>T | CA404526030 | NOTCH3 | c.1646G>A (p.Cys549Tyr) c.1643G>A (p.Cys548Tyr) | ClinVar dbSNP |
19 | g.15187300A>C | CA404526035 | NOTCH3 | c.1645T>G (p.Cys549Gly) c.1642T>G (p.Cys548Gly) | |
19 | g.15187300A>G | CA404526033 | NOTCH3 | c.1645T>C (p.Cys549Arg) c.1642T>C (p.Cys548Arg) | |
19 | g.15187300A>T | CA404526031 | NOTCH3 | c.1645T>A (p.Cys549Ser) c.1642T>A (p.Cys548Ser) |