Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.15191862C>A | CA404532932 | NOTCH3 | c.685G>T (p.Glu229Ter) c.682G>T (p.Glu228Ter) | |
19 | g.15191862C= | CA2324749879 | NOTCH3 | c.685G= (p.Glu229=) c.682G= (p.Glu228=) | |
19 | g.15191862C>G | CA404532933 | NOTCH3 | c.685G>C (p.Glu229Gln) c.682G>C (p.Glu228Gln) | |
19 | g.15191862C>T | CA404532934 | NOTCH3 | c.685G>A (p.Glu229Lys) c.682G>A (p.Glu228Lys) | dbSNP |
19 | g.15191863A>C | CA404532937 | NOTCH3 | c.684T>G (p.Phe228Leu) c.681T>G (p.Phe227Leu) | |
19 | g.15191863A>G | CA506078605 | NOTCH3 | c.684T>C (p.Phe228=) c.681T>C (p.Phe227=) | |
19 | g.15191863A>T | CA404532938 | NOTCH3 | c.684T>A (p.Phe228Leu) c.681T>A (p.Phe227Leu) | |
19 | g.15191864A>C | CA404532942 | NOTCH3 | c.683T>G (p.Phe228Cys) c.680T>G (p.Phe227Cys) | |
19 | g.15191864A>G | CA404532943 | NOTCH3 | c.683T>C (p.Phe228Ser) c.680T>C (p.Phe227Ser) | |
19 | g.15191864A>T | CA404532945 | NOTCH3 | c.683T>A (p.Phe228Tyr) c.680T>A (p.Phe227Tyr) | |
19 | g.15191865A>C | CA404532946 | NOTCH3 | c.682T>G (p.Phe228Val) c.679T>G (p.Phe227Val) | |
19 | g.15191865A>G | CA404532948 | NOTCH3 | c.682T>C (p.Phe228Leu) c.679T>C (p.Phe227Leu) | |
19 | g.15191865A>T | CA404532949 | NOTCH3 | c.682T>A (p.Phe228Ile) c.679T>A (p.Phe227Ile) | |
19 | g.15191866C>A | CA506078606 | NOTCH3 | c.681G>T (p.Gly227=) c.678G>T (p.Gly226=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15191866C= | CA2324749880 | NOTCH3 | c.681G= (p.Gly227=) c.678G= (p.Gly226=) | |
19 | g.15191866C>G | CA506078607 | NOTCH3 | c.681G>C (p.Gly227=) c.678G>C (p.Gly226=) | |
19 | g.15191866C>T | CA506078608 | NOTCH3 | c.681G>A (p.Gly227=) c.678G>A (p.Gly226=) | |
19 | g.15191867C>A | CA404532952 | NOTCH3 | c.680G>T (p.Gly227Val) c.677G>T (p.Gly226Val) | |
19 | g.15191867C>G | CA404532953 | NOTCH3 | c.680G>C (p.Gly227Ala) c.677G>C (p.Gly226Ala) | |
19 | g.15191867C>T | CA404532956 | NOTCH3 | c.680G>A (p.Gly227Glu) c.677G>A (p.Gly226Glu) | |
19 | g.15191868C>A | CA404532958 | NOTCH3 | c.680-1G>T (n.680-1G>T) c.677-1G>T (n.677-1G>T) | |
19 | g.15191868C>G | CA404532960 | NOTCH3 | c.680-1G>C (n.680-1G>C) c.677-1G>C (n.677-1G>C) | |
19 | g.15191868C>T | CA404532963 | NOTCH3 | c.680-1G>A (n.680-1G>A) c.677-1G>A (n.677-1G>A) | |
19 | g.15191869T>A | CA404532967 | NOTCH3 | c.680-2A>T (n.680-2A>T) c.677-2A>T (n.677-2A>T) | |
19 | g.15191869T>C | CA404532966 | NOTCH3 | c.680-2A>G (n.680-2A>G) c.677-2A>G (n.677-2A>G) | |
19 | g.15191869T>G | CA404532964 | NOTCH3 | c.680-2A>C (n.680-2A>C) c.677-2A>C (n.677-2A>C) | |
19 | g.15191870A= | CA2324749881 | NOTCH3 | c.680-3T= (n.680-3T=) c.677-3T= (n.677-3T=) | |
19 | g.15191870A>G | CA632128098 | NOTCH3 | c.680-3T>C (n.680-3T>C) c.677-3T>C (n.677-3T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191871G>A | CA305777609 | NOTCH3 | c.680-4C>T (n.680-4C>T) c.677-4C>T (n.677-4C>T) | dbSNP |
19 | g.15191871G= | CA2324749882 | NOTCH3 | c.680-4C= (n.680-4C=) c.677-4C= (n.677-4C=) | |
19 | g.15191871dup | CA2583065573 | NOTCH3 | c.680-4dup (n.680-4dup) c.677-4dup (n.677-4dup) | gnomAD v4 |
19 | g.15191872C>G | CA2583065574 | NOTCH3 | c.680-5G>C (n.680-5G>C) c.677-5G>C (n.677-5G>C) | gnomAD v4 |
19 | g.15191872C>T | CA2583065575 | NOTCH3 | c.680-5G>A (n.680-5G>A) c.677-5G>A (n.677-5G>A) | gnomAD v4 |
19 | g.15191874G= | CA2324749883 | NOTCH3 | c.680-7C= (n.680-7C=) c.677-7C= (n.677-7C=) | |
19 | g.15191874G>T | CA632128099 | NOTCH3 | c.680-7C>A (n.680-7C>A) c.677-7C>A (n.677-7C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191875G>A | CA2735643029 | NOTCH3 | c.680-8C>T (n.680-8C>T) c.677-8C>T (n.677-8C>T) | dbSNP |
19 | g.15191875G= | CA2324749884 | NOTCH3 | c.680-8C= (n.680-8C=) c.677-8C= (n.677-8C=) | |
19 | g.15191875G>T | CA632128100 | NOTCH3 | c.680-8C>A (n.680-8C>A) c.677-8C>A (n.677-8C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191876G>C | CA9263809 | NOTCH3 | c.680-9C>G (n.680-9C>G) c.677-9C>G (n.677-9C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15191876G= | CA2324749885 | NOTCH3 | c.680-9C= (n.680-9C=) c.677-9C= (n.677-9C=) | |
19 | g.15191876G>T | CA2583065576 | NOTCH3 | c.680-9C>A (n.680-9C>A) c.677-9C>A (n.677-9C>A) | gnomAD v4 |
19 | g.15191877A>G | CA2583065577 | NOTCH3 | c.680-10T>C (n.680-10T>C) c.677-10T>C (n.677-10T>C) | gnomAD v4 |
19 | g.15191879G>C | CA2324749887 | NOTCH3 | c.680-12C>G (n.680-12C>G) c.677-12C>G (n.677-12C>G) | dbSNP gnomAD v4 |
19 | g.15191879G= | CA2324749886 | NOTCH3 | c.680-12C= (n.680-12C=) c.677-12C= (n.677-12C=) | |
19 | g.15191880G>A | CA2573156095 | NOTCH3 | c.680-13C>T (n.680-13C>T) c.677-13C>T (n.677-13C>T) | ClinVar dbSNP |
19 | g.15191881G>A | CA2813728456 | NOTCH3 | c.680-14C>T (n.680-14C>T) c.677-14C>T (n.677-14C>T) | |
19 | g.15191882G>A | CA632128101 | NOTCH3 | c.680-15C>T (n.680-15C>T) c.677-15C>T (n.677-15C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191882G= | CA2324749888 | NOTCH3 | c.680-15C= (n.680-15C=) c.677-15C= (n.677-15C=) | |
19 | g.15191882G>T | CA2735647929 | NOTCH3 | c.680-15C>A (n.680-15C>A) c.677-15C>A (n.677-15C>A) | dbSNP |
19 | g.15191883G>A | CA9263810 | NOTCH3 | c.680-16C>T (n.680-16C>T) c.677-16C>T (n.677-16C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |