Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.15186894G>A | CA506078365 | NOTCH3 | c.1935C>T (p.Cys645=) c.1932C>T (p.Cys644=) | gnomAD v4 |
19 | g.15186894G>C | CA404523996 | NOTCH3 | c.1935C>G (p.Cys645Trp) c.1932C>G (p.Cys644Trp) | |
19 | g.15186894G>T | CA404523998 | NOTCH3 | c.1935C>A (p.Cys645Ter) c.1932C>A (p.Cys644Ter) | |
19 | g.15186895C>A | CA404523999 | NOTCH3 | c.1934G>T (p.Cys645Phe) c.1931G>T (p.Cys644Phe) | |
19 | g.15186895C>G | CA404524000 | NOTCH3 | c.1934G>C (p.Cys645Ser) c.1931G>C (p.Cys644Ser) | |
19 | g.15186895C>T | CA404524001 | NOTCH3 | c.1934G>A (p.Cys645Tyr) c.1931G>A (p.Cys644Tyr) | |
19 | g.15186896A>C | CA404524002 | NOTCH3 | c.1933T>G (p.Cys645Gly) c.1930T>G (p.Cys644Gly) | |
19 | g.15186896A>G | CA404524010 | NOTCH3 | c.1933T>C (p.Cys645Arg) c.1930T>C (p.Cys644Arg) | |
19 | g.15186896A>T | CA404524008 | NOTCH3 | c.1933T>A (p.Cys645Ser) c.1930T>A (p.Cys644Ser) | |
19 | g.15186897G>A | CA506078366 | NOTCH3 | c.1932C>T (p.Val644=) c.1929C>T (p.Val643=) | COSMIC COSMIC |
19 | g.15186897G>C | CA506078367 | NOTCH3 | c.1932C>G (p.Val644=) c.1929C>G (p.Val643=) | |
19 | g.15186897G>T | CA506078368 | NOTCH3 | c.1932C>A (p.Val644=) c.1929C>A (p.Val643=) | |
19 | g.15186898A= | CA2324747515 | NOTCH3 | c.1931T= (p.Val644=) c.1928T= (p.Val643=) | |
19 | g.15186898A>C | CA404524011 | NOTCH3 | c.1931T>G (p.Val644Gly) c.1928T>G (p.Val643Gly) | |
19 | g.15186898A>G | CA404524013 | NOTCH3 | c.1931T>C (p.Val644Ala) c.1928T>C (p.Val643Ala) | |
19 | g.15186898A>T | CA9263500 | NOTCH3 | c.1931T>A (p.Val644Asp) c.1928T>A (p.Val643Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15186899C>A | CA404524015 | NOTCH3 | c.1930G>T (p.Val644Phe) c.1927G>T (p.Val643Phe) | |
19 | g.15186899C= | CA2324747516 | NOTCH3 | c.1930G= (p.Val644=) c.1927G= (p.Val643=) | |
19 | g.15186899C>G | CA404524016 | NOTCH3 | c.1930G>C (p.Val644Leu) c.1927G>C (p.Val643Leu) | |
19 | g.15186899C>T | CA9263501 | NOTCH3 | c.1930G>A (p.Val644Ile) c.1927G>A (p.Val643Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15186900A>C | CA404524019 | NOTCH3 | c.1929T>G (p.Cys643Trp) c.1926T>G (p.Cys642Trp) | |
19 | g.15186900A>G | CA506078369 | NOTCH3 | c.1929T>C (p.Cys643=) c.1926T>C (p.Cys642=) | gnomAD v4 |
19 | g.15186900A>T | CA404524020 | NOTCH3 | c.1929T>A (p.Cys643Ter) c.1926T>A (p.Cys642Ter) | |
19 | g.15186901C>A | CA404524021 | NOTCH3 | c.1928G>T (p.Cys643Phe) c.1925G>T (p.Cys642Phe) | |
19 | g.15186901C>G | CA404524022 | NOTCH3 | c.1928G>C (p.Cys643Ser) c.1925G>C (p.Cys642Ser) | |
19 | g.15186901C>T | CA404524023 | NOTCH3 | c.1928G>A (p.Cys643Tyr) c.1925G>A (p.Cys642Tyr) | |
19 | g.15186902A>C | CA404524024 | NOTCH3 | c.1927T>G (p.Cys643Gly) c.1924T>G (p.Cys642Gly) | ClinVar gnomAD v4 |
19 | g.15186902A>G | CA404524025 | NOTCH3 | c.1927T>C (p.Cys643Arg) c.1924T>C (p.Cys642Arg) | |
19 | g.15186902A>T | CA404524026 | NOTCH3 | c.1927T>A (p.Cys643Ser) c.1924T>A (p.Cys642Ser) | |
19 | g.15186903G>A | CA506078370 | NOTCH3 | c.1926C>T (p.Asp642=) c.1923C>T (p.Asp641=) | |
19 | g.15186903G>C | CA9263502 | NOTCH3 | c.1926C>G (p.Asp642Glu) c.1923C>G (p.Asp641Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15186903G= | CA2324747517 | NOTCH3 | c.1926C= (p.Asp642=) c.1923C= (p.Asp641=) | |
19 | g.15186903G>T | CA404524028 | NOTCH3 | c.1926C>A (p.Asp642Glu) c.1923C>A (p.Asp641Glu) | |
19 | g.15186904T>A | CA404524029 | NOTCH3 | c.1925A>T (p.Asp642Val) c.1922A>T (p.Asp641Val) | dbSNP |
19 | g.15186904T>C | CA404524032 | NOTCH3 | c.1925A>G (p.Asp642Gly) c.1922A>G (p.Asp641Gly) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15186904T>G | CA404524030 | NOTCH3 | c.1925A>C (p.Asp642Ala) c.1922A>C (p.Asp641Ala) | |
19 | g.15186904T= | CA2324747518 | NOTCH3 | c.1925A= (p.Asp642=) c.1922A= (p.Asp641=) | |
19 | g.15186905C>A | CA404524034 | NOTCH3 | c.1924G>T (p.Asp642Tyr) c.1921G>T (p.Asp641Tyr) | gnomAD v4 |
19 | g.15186905C= | CA2324747519 | NOTCH3 | c.1924G= (p.Asp642=) c.1921G= (p.Asp641=) | |
19 | g.15186905C>G | CA404524038 | NOTCH3 | c.1924G>C (p.Asp642His) c.1921G>C (p.Asp641His) | |
19 | g.15186905C>T | CA404524040 | NOTCH3 | c.1924G>A (p.Asp642Asn) c.1921G>A (p.Asp641Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15186906G>A | CA9263503 | NOTCH3 | c.1923C>T (p.Tyr641=) c.1920C>T (p.Tyr640=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15186906G>C | CA404524048 | NOTCH3 | c.1923C>G (p.Tyr641Ter) c.1920C>G (p.Tyr640Ter) | |
19 | g.15186906G= | CA2324747520 | NOTCH3 | c.1923C= (p.Tyr641=) c.1920C= (p.Tyr640=) | |
19 | g.15186906G>T | CA404524049 | NOTCH3 | c.1923C>A (p.Tyr641Ter) c.1920C>A (p.Tyr640Ter) | gnomAD v4 COSMIC COSMIC |
19 | g.15186907T>A | CA404524050 | NOTCH3 | c.1922A>T (p.Tyr641Phe) c.1919A>T (p.Tyr640Phe) | |
19 | g.15186907T>C | CA404524052 | NOTCH3 | c.1922A>G (p.Tyr641Cys) c.1919A>G (p.Tyr640Cys) | |
19 | g.15186907T>G | CA404524054 | NOTCH3 | c.1922A>C (p.Tyr641Ser) c.1919A>C (p.Tyr640Ser) | |
19 | g.15186908A>C | CA404524060 | NOTCH3 | c.1921T>G (p.Tyr641Asp) c.1918T>G (p.Tyr640Asp) | |
19 | g.15186908A>G | CA404524058 | NOTCH3 | c.1921T>C (p.Tyr641His) c.1918T>C (p.Tyr640His) | dbSNP |
19 | g.15186908A>T | CA404524057 | NOTCH3 | c.1921T>A (p.Tyr641Asn) c.1918T>A (p.Tyr640Asn) | |
19 | g.15186909G>A | CA9263504 | NOTCH3 | c.1920C>T (p.Arg640=) c.1917C>T (p.Arg639=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15186909G>C | CA506078371 | NOTCH3 | c.1920C>G (p.Arg640=) c.1917C>G (p.Arg639=) | |
19 | g.15186909G= | CA2324747521 | NOTCH3 | c.1920C= (p.Arg640=) c.1917C= (p.Arg639=) | |
19 | g.15186909G>T | CA506078372 | NOTCH3 | c.1920C>A (p.Arg640=) c.1917C>A (p.Arg639=) | |
19 | g.15186910C>A | CA404524064 | NOTCH3 | c.1919G>T (p.Arg640Leu) c.1916G>T (p.Arg639Leu) | |
19 | g.15186910C= | CA2324747522 | NOTCH3 | c.1919G= (p.Arg640=) c.1916G= (p.Arg639=) | |
19 | g.15186910C>G | CA404524066 | NOTCH3 | c.1919G>C (p.Arg640Pro) c.1916G>C (p.Arg639Pro) | dbSNP |
19 | g.15186910C>T | CA9263505 | NOTCH3 | c.1919G>A (p.Arg640His) c.1916G>A (p.Arg639His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15186911G>A | CA9263506 | NOTCH3 | c.1918C>T (p.Arg640Cys) c.1915C>T (p.Arg639Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15186911G>C | CA404524071 | NOTCH3 | c.1918C>G (p.Arg640Gly) c.1915C>G (p.Arg639Gly) | gnomAD v4 |
19 | g.15186911G= | CA2324747523 | NOTCH3 | c.1918C= (p.Arg640=) c.1915C= (p.Arg639=) | |
19 | g.15186911G>T | CA404524074 | NOTCH3 | c.1918C>A (p.Arg640Ser) c.1915C>A (p.Arg639Ser) | |
19 | g.15186912G>A | CA506078373 | NOTCH3 | c.1917C>T (p.Asn639=) c.1914C>T (p.Asn638=) | |
19 | g.15186912G>C | CA404524077 | NOTCH3 | c.1917C>G (p.Asn639Lys) c.1914C>G (p.Asn638Lys) | |
19 | g.15186912G= | CA2324747524 | NOTCH3 | c.1917C= (p.Asn639=) c.1914C= (p.Asn638=) | |
19 | g.15186912G>T | CA305774666 | NOTCH3 | c.1917C>A (p.Asn639Lys) c.1914C>A (p.Asn638Lys) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15186913_15186915dup | CA2576654785 | NOTCH3 | c.1915_1917dup (p.Asn639_Arg640insAsn) c.1912_1914dup (p.Asn638_Arg639insAsn) | |
19 | g.15186913T>A | CA404524081 | NOTCH3 | c.1916A>T (p.Asn639Ile) c.1913A>T (p.Asn638Ile) | |
19 | g.15186913T>C | CA404524082 | NOTCH3 | c.1916A>G (p.Asn639Ser) c.1913A>G (p.Asn638Ser) | |
19 | g.15186913T>G | CA404524084 | NOTCH3 | c.1916A>C (p.Asn639Thr) c.1913A>C (p.Asn638Thr) | dbSNP |
19 | g.15186913T= | CA2324747525 | NOTCH3 | c.1916A= (p.Asn639=) c.1913A= (p.Asn638=) | |
19 | g.15186914T>A | CA404524092 | NOTCH3 | c.1915A>T (p.Asn639Tyr) c.1912A>T (p.Asn638Tyr) | |
19 | g.15186914T>C | CA404524091 | NOTCH3 | c.1915A>G (p.Asn639Asp) c.1912A>G (p.Asn638Asp) | |
19 | g.15186914T>G | CA404524088 | NOTCH3 | c.1915A>C (p.Asn639His) c.1912A>C (p.Asn638His) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15186915G>A | CA506078374 | NOTCH3 | c.1914C>T (p.Ile638=) c.1911C>T (p.Ile637=) | |
19 | g.15186915G>C | CA404524094 | NOTCH3 | c.1914C>G (p.Ile638Met) c.1911C>G (p.Ile637Met) | dbSNP |
19 | g.15186915G>T | CA506078375 | NOTCH3 | c.1914C>A (p.Ile638=) c.1911C>A (p.Ile637=) | |
19 | g.15186916A>C | CA404524097 | NOTCH3 | c.1913T>G (p.Ile638Ser) c.1910T>G (p.Ile637Ser) | |
19 | g.15186916A>G | CA404524100 | NOTCH3 | c.1913T>C (p.Ile638Thr) c.1910T>C (p.Ile637Thr) | ClinVar dbSNP |
19 | g.15186916A>T | CA404524101 | NOTCH3 | c.1913T>A (p.Ile638Asn) c.1910T>A (p.Ile637Asn) | |
19 | g.15186917T>A | CA404524104 | NOTCH3 | c.1912A>T (p.Ile638Phe) c.1909A>T (p.Ile637Phe) | |
19 | g.15186917T>C | CA404524107 | NOTCH3 | c.1912A>G (p.Ile638Val) c.1909A>G (p.Ile637Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15186917T>G | CA404524109 | NOTCH3 | c.1912A>C (p.Ile638Leu) c.1909A>C (p.Ile637Leu) | |
19 | g.15186917T= | CA2324747526 | NOTCH3 | c.1912A= (p.Ile638=) c.1909A= (p.Ile637=) | |
19 | g.15186918G>A | CA506078376 | NOTCH3 | c.1911C>T (p.Gly637=) c.1908C>T (p.Gly636=) | dbSNP |
19 | g.15186918G>C | CA506078377 | NOTCH3 | c.1911C>G (p.Gly637=) c.1908C>G (p.Gly636=) | |
19 | g.15186918G>T | CA506078378 | NOTCH3 | c.1911C>A (p.Gly637=) c.1908C>A (p.Gly636=) | |
19 | g.15186919C>A | CA404524114 | NOTCH3 | c.1910G>T (p.Gly637Val) c.1907G>T (p.Gly636Val) | |
19 | g.15186919C>G | CA404524117 | NOTCH3 | c.1910G>C (p.Gly637Ala) c.1907G>C (p.Gly636Ala) | |
19 | g.15186919C>T | CA404524119 | NOTCH3 | c.1910G>A (p.Gly637Asp) c.1907G>A (p.Gly636Asp) | dbSNP |
19 | g.15186920C>A | CA404524122 | NOTCH3 | c.1909G>T (p.Gly637Cys) c.1906G>T (p.Gly636Cys) | |
19 | g.15186920C>G | CA404524125 | NOTCH3 | c.1909G>C (p.Gly637Arg) c.1906G>C (p.Gly636Arg) | |
19 | g.15186920C>T | CA404524126 | NOTCH3 | c.1909G>A (p.Gly637Ser) c.1906G>A (p.Gly636Ser) | |
19 | g.15186921A>C | CA404524128 | NOTCH3 | c.1908T>G (p.Asp636Glu) c.1905T>G (p.Asp635Glu) | |
19 | g.15186921A>G | CA506078379 | NOTCH3 | c.1908T>C (p.Asp636=) c.1905T>C (p.Asp635=) | |
19 | g.15186921A>T | CA404524131 | NOTCH3 | c.1908T>A (p.Asp636Glu) c.1905T>A (p.Asp635Glu) | |
19 | g.15186922T>A | CA404524134 | NOTCH3 | c.1907A>T (p.Asp636Val) c.1904A>T (p.Asp635Val) | |
19 | g.15186922T>C | CA404524139 | NOTCH3 | c.1907A>G (p.Asp636Gly) c.1904A>G (p.Asp635Gly) | |
19 | g.15186922T>G | CA404524137 | NOTCH3 | c.1907A>C (p.Asp636Ala) c.1904A>C (p.Asp635Ala) | |
19 | g.15186923C>A | CA404524140 | NOTCH3 | c.1906G>T (p.Asp636Tyr) c.1903G>T (p.Asp635Tyr) | |
19 | g.15186923C>G | CA404524142 | NOTCH3 | c.1906G>C (p.Asp636His) c.1903G>C (p.Asp635His) | |
19 | g.15186923C>T | CA404524145 | NOTCH3 | c.1906G>A (p.Asp636Asn) c.1903G>A (p.Asp635Asn) | |
19 | g.15186924A>C | CA506078382 | NOTCH3 | c.1905T>G (p.Arg635=) c.1902T>G (p.Arg634=) | |
19 | g.15186924A>G | CA506078381 | NOTCH3 | c.1905T>C (p.Arg635=) c.1902T>C (p.Arg634=) | |
19 | g.15186924A>T | CA506078380 | NOTCH3 | c.1905T>A (p.Arg635=) c.1902T>A (p.Arg634=) | |
19 | g.15186925C>A | CA404524146 | NOTCH3 | c.1904G>T (p.Arg635Leu) c.1901G>T (p.Arg634Leu) | |
19 | g.15186925C= | CA2324747527 | NOTCH3 | c.1904G= (p.Arg635=) c.1901G= (p.Arg634=) | |
19 | g.15186925C>G | CA404524149 | NOTCH3 | c.1904G>C (p.Arg635Pro) c.1901G>C (p.Arg634Pro) | |
19 | g.15186925C>T | CA9263507 | NOTCH3 | c.1904G>A (p.Arg635His) c.1901G>A (p.Arg634His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15186926G>A | CA9263508 | NOTCH3 | c.1903C>T (p.Arg635Cys) c.1900C>T (p.Arg634Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15186926G>C | CA404524152 | NOTCH3 | c.1903C>G (p.Arg635Gly) c.1900C>G (p.Arg634Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15186926G= | CA2324747528 | NOTCH3 | c.1903C= (p.Arg635=) c.1900C= (p.Arg634=) | |
19 | g.15186926G>T | CA404524154 | NOTCH3 | c.1903C>A (p.Arg635Ser) c.1900C>A (p.Arg634Ser) | |
19 | g.15186927G>A | CA506078383 | NOTCH3 | c.1902C>T (p.Cys634=) c.1899C>T (p.Cys633=) | dbSNP |
19 | g.15186927G>C | CA404524159 | NOTCH3 | c.1902C>G (p.Cys634Trp) c.1899C>G (p.Cys633Trp) | |
19 | g.15186927G= | CA2324747529 | NOTCH3 | c.1902C= (p.Cys634=) c.1899C= (p.Cys633=) | |
19 | g.15186927G>T | CA404524161 | NOTCH3 | c.1902C>A (p.Cys634Ter) c.1899C>A (p.Cys633Ter) | |
19 | g.15186928C>A | CA404524164 | NOTCH3 | c.1901G>T (p.Cys634Phe) c.1898G>T (p.Cys633Phe) | |
19 | g.15186928C>G | CA404524166 | NOTCH3 | c.1901G>C (p.Cys634Ser) c.1898G>C (p.Cys633Ser) | |
19 | g.15186928C>T | CA404524169 | NOTCH3 | c.1901G>A (p.Cys634Tyr) c.1898G>A (p.Cys633Tyr) | |
19 | g.15186929A= | CA2324747530 | NOTCH3 | c.1900T= (p.Cys634=) c.1897T= (p.Cys633=) | |
19 | g.15186929A>C | CA404524175 | NOTCH3 | c.1900T>G (p.Cys634Gly) c.1897T>G (p.Cys633Gly) | dbSNP |
19 | g.15186929A>G | CA404524174 | NOTCH3 | c.1900T>C (p.Cys634Arg) c.1897T>C (p.Cys633Arg) | |
19 | g.15186929A>T | CA404524171 | NOTCH3 | c.1900T>A (p.Cys634Ser) c.1897T>A (p.Cys633Ser) | |
19 | g.15186930G>A | CA506078384 | NOTCH3 | c.1899C>T (p.Val633=) c.1896C>T (p.Val632=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15186930G>C | CA506078385 | NOTCH3 | c.1899C>G (p.Val633=) c.1896C>G (p.Val632=) | |
19 | g.15186930G= | CA2324747531 | NOTCH3 | c.1899C= (p.Val633=) c.1896C= (p.Val632=) | |
19 | g.15186930G>T | CA506078386 | NOTCH3 | c.1899C>A (p.Val633=) c.1896C>A (p.Val632=) | |
19 | g.15186931A>C | CA404524178 | NOTCH3 | c.1898T>G (p.Val633Gly) c.1895T>G (p.Val632Gly) | |
19 | g.15186931A>G | CA404524182 | NOTCH3 | c.1898T>C (p.Val633Ala) c.1895T>C (p.Val632Ala) | |
19 | g.15186931A>T | CA404524184 | NOTCH3 | c.1898T>A (p.Val633Asp) c.1895T>A (p.Val632Asp) | |
19 | g.15186932C>A | CA404524187 | NOTCH3 | c.1897G>T (p.Val633Phe) c.1894G>T (p.Val632Phe) | dbSNP |
19 | g.15186932C>G | CA404524188 | NOTCH3 | c.1897G>C (p.Val633Leu) c.1894G>C (p.Val632Leu) | |
19 | g.15186932C>T | CA404524190 | NOTCH3 | c.1897G>A (p.Val633Ile) c.1894G>A (p.Val632Ile) | |
19 | g.15186933T>A | CA506078387 | NOTCH3 | c.1896A>T (p.Gly632=) c.1893A>T (p.Gly631=) | gnomAD v4 |
19 | g.15186933T>C | CA506078388 | NOTCH3 | c.1896A>G (p.Gly632=) c.1893A>G (p.Gly631=) | |
19 | g.15186933T>G | CA506078389 | NOTCH3 | c.1896A>C (p.Gly632=) c.1893A>C (p.Gly631=) | |
19 | g.15186934C>A | CA404524192 | NOTCH3 | c.1895G>T (p.Gly632Val) c.1892G>T (p.Gly631Val) | |
19 | g.15186934C= | CA2324747532 | NOTCH3 | c.1895G= (p.Gly632=) c.1892G= (p.Gly631=) | |
19 | g.15186934C>G | CA404524194 | NOTCH3 | c.1895G>C (p.Gly632Ala) c.1892G>C (p.Gly631Ala) | |
19 | g.15186934C>T | CA404524196 | NOTCH3 | c.1895G>A (p.Gly632Glu) c.1892G>A (p.Gly631Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15186935C>A | CA404524197 | NOTCH3 | c.1894G>T (p.Gly632Ter) c.1891G>T (p.Gly631Ter) | |
19 | g.15186935C>G | CA404524198 | NOTCH3 | c.1894G>C (p.Gly632Arg) c.1891G>C (p.Gly631Arg) | |
19 | g.15186935C>T | CA404524201 | NOTCH3 | c.1894G>A (p.Gly632Arg) c.1891G>A (p.Gly631Arg) | gnomAD v4 |
19 | g.15186936A= | CA2324747533 | NOTCH3 | c.1893T= (p.Phe631=) c.1890T= (p.Phe630=) | |
19 | g.15186936A>C | CA404524206 | NOTCH3 | c.1893T>G (p.Phe631Leu) c.1890T>G (p.Phe630Leu) | |
19 | g.15186936A>G | CA506078390 | NOTCH3 | c.1893T>C (p.Phe631=) c.1890T>C (p.Phe630=) | ClinVar dbSNP |
19 | g.15186936A>T | CA404524207 | NOTCH3 | c.1893T>A (p.Phe631Leu) c.1890T>A (p.Phe630Leu) | |
19 | g.15186937A>C | CA404524209 | NOTCH3 | c.1892T>G (p.Phe631Cys) c.1889T>G (p.Phe630Cys) | |
19 | g.15186937A>G | CA404524211 | NOTCH3 | c.1892T>C (p.Phe631Ser) c.1889T>C (p.Phe630Ser) | dbSNP |
19 | g.15186937A>T | CA404524208 | NOTCH3 | c.1892T>A (p.Phe631Tyr) c.1889T>A (p.Phe630Tyr) | |
19 | g.15186938A>C | CA404524213 | NOTCH3 | c.1891T>G (p.Phe631Val) c.1888T>G (p.Phe630Val) | |
19 | g.15186938A>G | CA404524214 | NOTCH3 | c.1891T>C (p.Phe631Leu) c.1888T>C (p.Phe630Leu) | |
19 | g.15186938A>T | CA404524215 | NOTCH3 | c.1891T>A (p.Phe631Ile) c.1888T>A (p.Phe630Ile) | |
19 | g.15186939G>A | CA9263509 | NOTCH3 | c.1890C>T (p.Thr630=) c.1887C>T (p.Thr629=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15186939G>C | CA506078391 | NOTCH3 | c.1890C>G (p.Thr630=) c.1887C>G (p.Thr629=) | |
19 | g.15186939G= | CA2324747534 | NOTCH3 | c.1890C= (p.Thr630=) c.1887C= (p.Thr629=) | |
19 | g.15186939G>T | CA506078392 | NOTCH3 | c.1890C>A (p.Thr630=) c.1887C>A (p.Thr629=) | |
19 | g.15186940G>A | CA305774675 | NOTCH3 | c.1889C>T (p.Thr630Ile) c.1886C>T (p.Thr629Ile) | dbSNP gnomAD v4 |
19 | g.15186940G>C | CA404524219 | NOTCH3 | c.1889C>G (p.Thr630Ser) c.1886C>G (p.Thr629Ser) | |
19 | g.15186940G= | CA2324747535 | NOTCH3 | c.1889C= (p.Thr630=) c.1886C= (p.Thr629=) | |
19 | g.15186940G>T | CA404524220 | NOTCH3 | c.1889C>A (p.Thr630Asn) c.1886C>A (p.Thr629Asn) | |
19 | g.15186941T>A | CA404524222 | NOTCH3 | c.1888A>T (p.Thr630Ser) c.1885A>T (p.Thr629Ser) | |
19 | g.15186941T>C | CA404524225 | NOTCH3 | c.1888A>G (p.Thr630Ala) c.1885A>G (p.Thr629Ala) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15186941T>G | CA404524227 | NOTCH3 | c.1888A>C (p.Thr630Pro) c.1885A>C (p.Thr629Pro) | |
19 | g.15186941T= | CA2324747536 | NOTCH3 | c.1888A= (p.Thr630=) c.1885A= (p.Thr629=) | |
19 | g.15186942G>A | CA506078393 | NOTCH3 | c.1887C>T (p.Cys629=) c.1884C>T (p.Cys628=) | gnomAD v4 |
19 | g.15186942G>C | CA404524229 | NOTCH3 | c.1887C>G (p.Cys629Trp) c.1884C>G (p.Cys628Trp) | |
19 | g.15186942G>T | CA404524232 | NOTCH3 | c.1887C>A (p.Cys629Ter) c.1884C>A (p.Cys628Ter) | |
19 | g.15186943C>A | CA404524237 | NOTCH3 | c.1886G>T (p.Cys629Phe) c.1883G>T (p.Cys628Phe) | COSMIC COSMIC |
19 | g.15186943C>G | CA404524235 | NOTCH3 | c.1886G>C (p.Cys629Ser) c.1883G>C (p.Cys628Ser) | |
19 | g.15186943C>T | CA404524233 | NOTCH3 | c.1886G>A (p.Cys629Tyr) c.1883G>A (p.Cys628Tyr) | |
19 | g.15186944A>C | CA404524239 | NOTCH3 | c.1885T>G (p.Cys629Gly) c.1882T>G (p.Cys628Gly) | |
19 | g.15186944A>G | CA404524241 | NOTCH3 | c.1885T>C (p.Cys629Arg) c.1882T>C (p.Cys628Arg) | gnomAD v4 |
19 | g.15186944A>T | CA404524244 | NOTCH3 | c.1885T>A (p.Cys629Ser) c.1882T>A (p.Cys628Ser) | |
19 | g.15186945G>A | CA506078394 | NOTCH3 | c.1884C>T (p.Pro628=) c.1881C>T (p.Pro627=) | |
19 | g.15186945G>C | CA506078395 | NOTCH3 | c.1884C>G (p.Pro628=) c.1881C>G (p.Pro627=) | |
19 | g.15186945G>T | CA506078396 | NOTCH3 | c.1884C>A (p.Pro628=) c.1881C>A (p.Pro627=) | |
19 | g.15186946G>A | CA404524245 | NOTCH3 | c.1883C>T (p.Pro628Leu) c.1880C>T (p.Pro627Leu) | COSMIC COSMIC |
19 | g.15186946G>C | CA404524247 | NOTCH3 | c.1883C>G (p.Pro628Arg) c.1880C>G (p.Pro627Arg) | |
19 | g.15186946G>T | CA404524248 | NOTCH3 | c.1883C>A (p.Pro628His) c.1880C>A (p.Pro627His) | ClinVar |
19 | g.15186947G>A | CA404524251 | NOTCH3 | c.1882C>T (p.Pro628Ser) c.1879C>T (p.Pro627Ser) | dbSNP gnomAD v4 |
19 | g.15186947G>C | CA404524252 | NOTCH3 | c.1882C>G (p.Pro628Ala) c.1879C>G (p.Pro627Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15186947G= | CA2324747537 | NOTCH3 | c.1882C= (p.Pro628=) c.1879C= (p.Pro627=) | |
19 | g.15186947G>T | CA404524255 | NOTCH3 | c.1882C>A (p.Pro628Thr) c.1879C>A (p.Pro627Thr) | |
19 | g.15186948G>A | CA9263510 | NOTCH3 | c.1881C>T (p.Asn627=) c.1878C>T (p.Asn626=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15186948G>C | CA404524256 | NOTCH3 | c.1881C>G (p.Asn627Lys) c.1878C>G (p.Asn626Lys) | |
19 | g.15186948G= | CA2324747538 | NOTCH3 | c.1881C= (p.Asn627=) c.1878C= (p.Asn626=) | |
19 | g.15186948G>T | CA404524258 | NOTCH3 | c.1881C>A (p.Asn627Lys) c.1878C>A (p.Asn626Lys) | |
19 | g.15186949T>A | CA404524259 | NOTCH3 | c.1880A>T (p.Asn627Ile) c.1877A>T (p.Asn626Ile) | |
19 | g.15186949T>C | CA404524263 | NOTCH3 | c.1880A>G (p.Asn627Ser) c.1877A>G (p.Asn626Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15186949T>G | CA404524262 | NOTCH3 | c.1880A>C (p.Asn627Thr) c.1877A>C (p.Asn626Thr) | |
19 | g.15186949T= | CA2324747539 | NOTCH3 | c.1880A= (p.Asn627=) c.1877A= (p.Asn626=) | |
19 | g.15186950T>A | CA404524265 | NOTCH3 | c.1879A>T (p.Asn627Tyr) c.1876A>T (p.Asn626Tyr) | |
19 | g.15186950T>C | CA404524268 | NOTCH3 | c.1879A>G (p.Asn627Asp) c.1876A>G (p.Asn626Asp) | gnomAD v4 |
19 | g.15186950T>G | CA404524266 | NOTCH3 | c.1879A>C (p.Asn627His) c.1876A>C (p.Asn626His) | |
19 | g.15186951G>A | CA506078397 | NOTCH3 | c.1878C>T (p.Ser626=) c.1875C>T (p.Ser625=) | dbSNP |
19 | g.15186951G>C | CA404524271 | NOTCH3 | c.1878C>G (p.Ser626Arg) c.1875C>G (p.Ser625Arg) | |
19 | g.15186951G>T | CA404524272 | NOTCH3 | c.1878C>A (p.Ser626Arg) c.1875C>A (p.Ser625Arg) | |
19 | g.15186952C>A | CA404524274 | NOTCH3 | c.1877G>T (p.Ser626Ile) c.1874G>T (p.Ser625Ile) | |
19 | g.15186952C= | CA2324747540 | NOTCH3 | c.1877G= (p.Ser626=) c.1874G= (p.Ser625=) | |
19 | g.15186952C>G | CA404524276 | NOTCH3 | c.1877G>C (p.Ser626Thr) c.1874G>C (p.Ser625Thr) | COSMIC COSMIC |
19 | g.15186952C>T | CA9263511 | NOTCH3 | c.1877G>A (p.Ser626Asn) c.1874G>A (p.Ser625Asn) | dbSNP ExAC gnomAD v2 |
19 | g.15186953T>A | CA404524279 | NOTCH3 | c.1876A>T (p.Ser626Cys) c.1873A>T (p.Ser625Cys) | |
19 | g.15186953T>C | CA404524284 | NOTCH3 | c.1876A>G (p.Ser626Gly) c.1873A>G (p.Ser625Gly) | |
19 | g.15186953T>G | CA404524286 | NOTCH3 | c.1876A>C (p.Ser626Arg) c.1873A>C (p.Ser625Arg) | |
19 | g.15186954G>A | CA506078398 | NOTCH3 | c.1875C>T (p.Ala625=) c.1872C>T (p.Ala624=) | |
19 | g.15186954G>C | CA506078400 | NOTCH3 | c.1875C>G (p.Ala625=) c.1872C>G (p.Ala624=) | |
19 | g.15186954G= | CA2324747541 | NOTCH3 | c.1875C= (p.Ala625=) c.1872C= (p.Ala624=) | |
19 | g.15186954G>T | CA506078399 | NOTCH3 | c.1875C>A (p.Ala625=) c.1872C>A (p.Ala624=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15186955G>A | CA404524288 | NOTCH3 | c.1874C>T (p.Ala625Val) c.1871C>T (p.Ala624Val) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15186955G>C | CA404524290 | NOTCH3 | c.1874C>G (p.Ala625Gly) c.1871C>G (p.Ala624Gly) | |
19 | g.15186955G= | CA2324747542 | NOTCH3 | c.1874C= (p.Ala625=) c.1871C= (p.Ala624=) | |
19 | g.15186955G>T | CA404524292 | NOTCH3 | c.1874C>A (p.Ala625Asp) c.1871C>A (p.Ala624Asp) | |
19 | g.15186956C>A | CA404524298 | NOTCH3 | c.1873G>T (p.Ala625Ser) c.1870G>T (p.Ala624Ser) | |
19 | g.15186956C= | CA2324747543 | NOTCH3 | c.1873G= (p.Ala625=) c.1870G= (p.Ala624=) | |
19 | g.15186956C>G | CA404524294 | NOTCH3 | c.1873G>C (p.Ala625Pro) c.1870G>C (p.Ala624Pro) | |
19 | g.15186956C>T | CA305774678 | NOTCH3 | c.1873G>A (p.Ala625Thr) c.1870G>A (p.Ala624Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15186957A>C | CA404524301 | NOTCH3 | c.1872T>G (p.Cys624Trp) c.1869T>G (p.Cys623Trp) | |
19 | g.15186957A>G | CA506078401 | NOTCH3 | c.1872T>C (p.Cys624=) c.1869T>C (p.Cys623=) | |
19 | g.15186957A>T | CA404524302 | NOTCH3 | c.1872T>A (p.Cys624Ter) c.1869T>A (p.Cys623Ter) | |
19 | g.15186958C>A | CA404524304 | NOTCH3 | c.1871G>T (p.Cys624Phe) c.1868G>T (p.Cys623Phe) | |
19 | g.15186958C= | CA2324747544 | NOTCH3 | c.1871G= (p.Cys624=) c.1868G= (p.Cys623=) | |
19 | g.15186958C>G | CA9263512 | NOTCH3 | c.1871G>C (p.Cys624Ser) c.1868G>C (p.Cys623Ser) | dbSNP ExAC gnomAD v4 |
19 | g.15186958C>T | CA404524307 | NOTCH3 | c.1871G>A (p.Cys624Tyr) c.1868G>A (p.Cys623Tyr) | ClinVar dbSNP |
19 | g.15186959A>C | CA404524310 | NOTCH3 | c.1870T>G (p.Cys624Gly) c.1867T>G (p.Cys623Gly) | |
19 | g.15186959A>G | CA404524313 | NOTCH3 | c.1870T>C (p.Cys624Arg) c.1867T>C (p.Cys623Arg) | |
19 | g.15186959A>T | CA404524314 | NOTCH3 | c.1870T>A (p.Cys624Ser) c.1867T>A (p.Cys623Ser) | |
19 | g.15186960G>A | CA506078405 | NOTCH3 | c.1869C>T (p.Asp623=) c.1866C>T (p.Asp622=) | gnomAD v4 |
19 | g.15186960G>C | CA404524316 | NOTCH3 | c.1869C>G (p.Asp623Glu) c.1866C>G (p.Asp622Glu) | |
19 | g.15186960G>T | CA404524318 | NOTCH3 | c.1869C>A (p.Asp623Glu) c.1866C>A (p.Asp622Glu) | |
19 | g.15186961T>A | CA404524323 | NOTCH3 | c.1868A>T (p.Asp623Val) c.1865A>T (p.Asp622Val) | dbSNP |
19 | g.15186961T>C | CA404524325 | NOTCH3 | c.1868A>G (p.Asp623Gly) c.1865A>G (p.Asp622Gly) | |
19 | g.15186961T>G | CA404524321 | NOTCH3 | c.1868A>C (p.Asp623Ala) c.1865A>C (p.Asp622Ala) | |
19 | g.15186962C>A | CA404524328 | NOTCH3 | c.1867G>T (p.Asp623Tyr) c.1864G>T (p.Asp622Tyr) | |
19 | g.15186962C>G | CA404524331 | NOTCH3 | c.1867G>C (p.Asp623His) c.1864G>C (p.Asp622His) | |
19 | g.15186962C>T | CA404524332 | NOTCH3 | c.1867G>A (p.Asp623Asn) c.1864G>A (p.Asp622Asn) | ClinVar |
19 | g.15186963G>A | CA9263513 | NOTCH3 | c.1866C>T (p.Asp622=) c.1863C>T (p.Asp621=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15186963G>C | CA404524336 | NOTCH3 | c.1866C>G (p.Asp622Glu) c.1863C>G (p.Asp621Glu) | |
19 | g.15186963G= | CA2324747545 | NOTCH3 | c.1866C= (p.Asp622=) c.1863C= (p.Asp621=) | |
19 | g.15186963G>T | CA404524338 | NOTCH3 | c.1866C>A (p.Asp622Glu) c.1863C>A (p.Asp621Glu) | |
19 | g.15186964T>A | CA404524340 | NOTCH3 | c.1865A>T (p.Asp622Val) c.1862A>T (p.Asp621Val) | dbSNP |
19 | g.15186964T>C | CA9263514 | NOTCH3 | c.1865A>G (p.Asp622Gly) c.1862A>G (p.Asp621Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15186964T>G | CA404524342 | NOTCH3 | c.1865A>C (p.Asp622Ala) c.1862A>C (p.Asp621Ala) | |
19 | g.15186964T= | CA2324747546 | NOTCH3 | c.1865A= (p.Asp622=) c.1862A= (p.Asp621=) | |
19 | g.15186965C>A | CA404524347 | NOTCH3 | c.1864G>T (p.Asp622Tyr) c.1861G>T (p.Asp621Tyr) | dbSNP |
19 | g.15186965C= | CA2324747547 | NOTCH3 | c.1864G= (p.Asp622=) c.1861G= (p.Asp621=) | |
19 | g.15186965C>G | CA404524348 | NOTCH3 | c.1864G>C (p.Asp622His) c.1861G>C (p.Asp621His) | dbSNP gnomAD v4 |
19 | g.15186965C>T | CA404524351 | NOTCH3 | c.1864G>A (p.Asp622Asn) c.1861G>A (p.Asp621Asn) | dbSNP |
19 | g.15186966A>C | CA404524353 | NOTCH3 | c.1863T>G (p.Ile621Met) c.1860T>G (p.Ile620Met) | |
19 | g.15186966A>G | CA506078417 | NOTCH3 | c.1863T>C (p.Ile621=) c.1860T>C (p.Ile620=) | |
19 | g.15186966A>T | CA506078418 | NOTCH3 | c.1863T>A (p.Ile621=) c.1860T>A (p.Ile620=) | |
19 | g.15186967A>C | CA404524354 | NOTCH3 | c.1862T>G (p.Ile621Ser) c.1859T>G (p.Ile620Ser) | |
19 | g.15186967A>G | CA404524356 | NOTCH3 | c.1862T>C (p.Ile621Thr) c.1859T>C (p.Ile620Thr) | |
19 | g.15186967A>T | CA404524355 | NOTCH3 | c.1862T>A (p.Ile621Asn) c.1859T>A (p.Ile620Asn) | |
19 | g.15186968T>A | CA404524357 | NOTCH3 | c.1861A>T (p.Ile621Phe) c.1858A>T (p.Ile620Phe) | |
19 | g.15186968T>C | CA9263515 | NOTCH3 | c.1861A>G (p.Ile621Val) c.1858A>G (p.Ile620Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15186968T>G | CA404524359 | NOTCH3 | c.1861A>C (p.Ile621Leu) c.1858A>C (p.Ile620Leu) | |
19 | g.15186968T= | CA2324747548 | NOTCH3 | c.1861A= (p.Ile621=) c.1858A= (p.Ile620=) | |
19 | g.15186969G>A | CA506078421 | NOTCH3 | c.1860C>T (p.Asn620=) c.1857C>T (p.Asn619=) | |
19 | g.15186969G>C | CA404524360 | NOTCH3 | c.1860C>G (p.Asn620Lys) c.1857C>G (p.Asn619Lys) | |
19 | g.15186969G>T | CA404524363 | NOTCH3 | c.1860C>A (p.Asn620Lys) c.1857C>A (p.Asn619Lys) | |
19 | g.15186970T>A | CA404524364 | NOTCH3 | c.1859A>T (p.Asn620Ile) c.1856A>T (p.Asn619Ile) | |
19 | g.15186970T>C | CA404524366 | NOTCH3 | c.1859A>G (p.Asn620Ser) c.1856A>G (p.Asn619Ser) | |
19 | g.15186970T>G | CA404524368 | NOTCH3 | c.1859A>C (p.Asn620Thr) c.1856A>C (p.Asn619Thr) | |
19 | g.15186971T>A | CA404524369 | NOTCH3 | c.1858A>T (p.Asn620Tyr) c.1855A>T (p.Asn619Tyr) | |
19 | g.15186971T>C | CA404524371 | NOTCH3 | c.1858A>G (p.Asn620Asp) c.1855A>G (p.Asn619Asp) | |
19 | g.15186971T>G | CA404524373 | NOTCH3 | c.1858A>C (p.Asn620His) c.1855A>C (p.Asn619His) | |
19 | g.15186972C>A | CA506078424 | NOTCH3 | c.1857G>T (p.Val619=) c.1854G>T (p.Val618=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15186972C= | CA2324747549 | NOTCH3 | c.1857G= (p.Val619=) c.1854G= (p.Val618=) | |
19 | g.15186972C>G | CA506078425 | NOTCH3 | c.1857G>C (p.Val619=) c.1854G>C (p.Val618=) | |
19 | g.15186972C>T | CA506078426 | NOTCH3 | c.1857G>A (p.Val619=) c.1854G>A (p.Val618=) | dbSNP |
19 | g.15186973A= | CA2324747550 | NOTCH3 | c.1856T= (p.Val619=) c.1853T= (p.Val618=) | |
19 | g.15186973A>C | CA404524378 | NOTCH3 | c.1856T>G (p.Val619Gly) c.1853T>G (p.Val618Gly) | dbSNP |
19 | g.15186973A>G | CA404524377 | NOTCH3 | c.1856T>C (p.Val619Ala) c.1853T>C (p.Val618Ala) | |
19 | g.15186973A>T | CA404524375 | NOTCH3 | c.1856T>A (p.Val619Glu) c.1853T>A (p.Val618Glu) | |
19 | g.15186974C>A | CA404524379 | NOTCH3 | c.1855G>T (p.Val619Leu) c.1852G>T (p.Val618Leu) | |
19 | g.15186974C>G | CA404524381 | NOTCH3 | c.1855G>C (p.Val619Leu) c.1852G>C (p.Val618Leu) | |
19 | g.15186974C>T | CA404524380 | NOTCH3 | c.1855G>A (p.Val619Met) c.1852G>A (p.Val618Met) | |
19 | g.15186975T>A | CA404524382 | NOTCH3 | c.1854A>T (p.Glu618Asp) c.1851A>T (p.Glu617Asp) | |
19 | g.15186975T>C | CA9263516 | NOTCH3 | c.1854A>G (p.Glu618=) c.1851A>G (p.Glu617=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15186975T>G | CA404524383 | NOTCH3 | c.1854A>C (p.Glu618Asp) c.1851A>C (p.Glu617Asp) | |
19 | g.15186975T= | CA2324747551 | NOTCH3 | c.1854A= (p.Glu618=) c.1851A= (p.Glu617=) | |
19 | g.15186976T>A | CA404524385 | NOTCH3 | c.1853A>T (p.Glu618Val) c.1850A>T (p.Glu617Val) | |
19 | g.15186976T>C | CA404524386 | NOTCH3 | c.1853A>G (p.Glu618Gly) c.1850A>G (p.Glu617Gly) | |
19 | g.15186976T>G | CA404524389 | NOTCH3 | c.1853A>C (p.Glu618Ala) c.1850A>C (p.Glu617Ala) | |
19 | g.15186977C>A | CA404524390 | NOTCH3 | c.1852G>T (p.Glu618Ter) c.1849G>T (p.Glu617Ter) | |
19 | g.15186977C= | CA2324747552 | NOTCH3 | c.1852G= (p.Glu618=) c.1849G= (p.Glu617=) | |
19 | g.15186977C>G | CA404524392 | NOTCH3 | c.1852G>C (p.Glu618Gln) c.1849G>C (p.Glu617Gln) | |
19 | g.15186977C>T | CA9263517 | NOTCH3 | c.1852G>A (p.Glu618Lys) c.1849G>A (p.Glu617Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15186978G>A | CA506078431 | NOTCH3 | c.1851C>T (p.Cys617=) c.1848C>T (p.Cys616=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15186978G>C | CA404524394 | NOTCH3 | c.1851C>G (p.Cys617Trp) c.1848C>G (p.Cys616Trp) | |
19 | g.15186978G= | CA2324747553 | NOTCH3 | c.1851C= (p.Cys617=) c.1848C= (p.Cys616=) | |
19 | g.15186978G>T | CA404524397 | NOTCH3 | c.1851C>A (p.Cys617Ter) c.1848C>A (p.Cys616Ter) | |
19 | g.15186979C>A | CA404524399 | NOTCH3 | c.1850G>T (p.Cys617Phe) c.1847G>T (p.Cys616Phe) | |
19 | g.15186979C>G | CA404524400 | NOTCH3 | c.1850G>C (p.Cys617Ser) c.1847G>C (p.Cys616Ser) | COSMIC |
19 | g.15186979C>T | CA404524402 | NOTCH3 | c.1850G>A (p.Cys617Tyr) c.1847G>A (p.Cys616Tyr) | |
19 | g.15186980A>C | CA404524409 | NOTCH3 | c.1849T>G (p.Cys617Gly) c.1846T>G (p.Cys616Gly) | |
19 | g.15186980A>G | CA404524406 | NOTCH3 | c.1849T>C (p.Cys617Arg) c.1846T>C (p.Cys616Arg) | ClinVar dbSNP |
19 | g.15186980A>T | CA404524404 | NOTCH3 | c.1849T>A (p.Cys617Ser) c.1846T>A (p.Cys616Ser) | |
19 | g.15186981G>A | CA305774709 | NOTCH3 | c.1848C>T (p.Asn616=) c.1845C>T (p.Asn615=) | dbSNP gnomAD v4 |
19 | g.15186981G>C | CA404524410 | NOTCH3 | c.1848C>G (p.Asn616Lys) c.1845C>G (p.Asn615Lys) | |
19 | g.15186981G= | CA2324747554 | NOTCH3 | c.1848C= (p.Asn616=) c.1845C= (p.Asn615=) | |
19 | g.15186981G>T | CA404524411 | NOTCH3 | c.1848C>A (p.Asn616Lys) c.1845C>A (p.Asn615Lys) | |
19 | g.15186982T>A | CA404524414 | NOTCH3 | c.1847A>T (p.Asn616Ile) c.1844A>T (p.Asn615Ile) | dbSNP |
19 | g.15186982T>C | CA404524422 | NOTCH3 | c.1847A>G (p.Asn616Ser) c.1844A>G (p.Asn615Ser) | |
19 | g.15186982T>G | CA404524424 | NOTCH3 | c.1847A>C (p.Asn616Thr) c.1844A>C (p.Asn615Thr) | |
19 | g.15186983T>A | CA404524427 | NOTCH3 | c.1846A>T (p.Asn616Tyr) c.1843A>T (p.Asn615Tyr) | |
19 | g.15186983T>C | CA404524429 | NOTCH3 | c.1846A>G (p.Asn616Asp) c.1843A>G (p.Asn615Asp) | |
19 | g.15186983T>G | CA404524430 | NOTCH3 | c.1846A>C (p.Asn616His) c.1843A>C (p.Asn615His) | |
19 | g.15186984C>A | CA506078438 | NOTCH3 | c.1845G>T (p.Val615=) c.1842G>T (p.Val614=) | |
19 | g.15186984C>G | CA506078439 | NOTCH3 | c.1845G>C (p.Val615=) c.1842G>C (p.Val614=) | |
19 | g.15186984C>T | CA506078441 | NOTCH3 | c.1845G>A (p.Val615=) c.1842G>A (p.Val614=) | |
19 | g.15186985A= | CA2324747555 | NOTCH3 | c.1844T= (p.Val615=) c.1841T= (p.Val614=) | |
19 | g.15186985A>C | CA404524434 | NOTCH3 | c.1844T>G (p.Val615Gly) c.1841T>G (p.Val614Gly) | |
19 | g.15186985A>G | CA305774710 | NOTCH3 | c.1844T>C (p.Val615Ala) c.1841T>C (p.Val614Ala) | dbSNP gnomAD v4 |
19 | g.15186985A>T | CA404524438 | NOTCH3 | c.1844T>A (p.Val615Glu) c.1841T>A (p.Val614Glu) | |
19 | g.15186986C>A | CA404524445 | NOTCH3 | c.1843G>T (p.Val615Leu) c.1840G>T (p.Val614Leu) | |
19 | g.15186986C>G | CA404524444 | NOTCH3 | c.1843G>C (p.Val615Leu) c.1840G>C (p.Val614Leu) | |
19 | g.15186986C>T | CA404524442 | NOTCH3 | c.1843G>A (p.Val615Met) c.1840G>A (p.Val614Met) | |
19 | g.15186987A>C | CA506078444 | NOTCH3 | c.1842T>G (p.Gly614=) c.1839T>G (p.Gly613=) | |
19 | g.15186987A>G | CA506078446 | NOTCH3 | c.1842T>C (p.Gly614=) c.1839T>C (p.Gly613=) | |
19 | g.15186987A>T | CA506078448 | NOTCH3 | c.1842T>A (p.Gly614=) c.1839T>A (p.Gly613=) | |
19 | g.15186988C>A | CA404524446 | NOTCH3 | c.1841G>T (p.Gly614Val) c.1838G>T (p.Gly613Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15186988C= | CA2324747556 | NOTCH3 | c.1841G= (p.Gly614=) c.1838G= (p.Gly613=) | |
19 | g.15186988C>G | CA404524448 | NOTCH3 | c.1841G>C (p.Gly614Ala) c.1838G>C (p.Gly613Ala) | |
19 | g.15186988C>T | CA404524452 | NOTCH3 | c.1841G>A (p.Gly614Asp) c.1838G>A (p.Gly613Asp) | gnomAD v4 |
19 | g.15186989C>A | CA404524453 | NOTCH3 | c.1841-1G>T (n.1841-1G>T) c.1838-1G>T (n.1838-1G>T) | |
19 | g.15186989C>G | CA404524457 | NOTCH3 | c.1841-1G>C (n.1841-1G>C) c.1838-1G>C (n.1838-1G>C) | |
19 | g.15186989C>T | CA404524460 | NOTCH3 | c.1841-1G>A (n.1841-1G>A) c.1838-1G>A (n.1838-1G>A) | |
19 | g.15186990T>A | CA404524463 | NOTCH3 | c.1841-2A>T (n.1841-2A>T) c.1838-2A>T (n.1838-2A>T) | COSMIC COSMIC |
19 | g.15186990T>C | CA404524464 | NOTCH3 | c.1841-2A>G (n.1841-2A>G) c.1838-2A>G (n.1838-2A>G) | |
19 | g.15186990T>G | CA404524467 | NOTCH3 | c.1841-2A>C (n.1841-2A>C) c.1838-2A>C (n.1838-2A>C) | |
19 | g.15186990_15186991delinsTA | CA2324747557 | NOTCH3 | c.1841-3_1841-2delinsTA (n.1841-3_1841-2delinsTA) c.1838-3_1838-2delinsTA (n.1838-3_1838-2delinsTA) | |
19 | g.15186991del | CA632128037 | NOTCH3 | c.1841-3del (n.1841-3del) c.1838-3del (n.1838-3del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15186991A= | CA2324747558 | NOTCH3 | c.1841-3T= (n.1841-3T=) c.1838-3T= (n.1838-3T=) | |
19 | g.15186991A>G | CA9263518 | NOTCH3 | c.1841-3T>C (n.1841-3T>C) c.1838-3T>C (n.1838-3T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15186992G>C | CA9263519 | NOTCH3 | c.1841-4C>G (n.1841-4C>G) c.1838-4C>G (n.1838-4C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15186992G= | CA2324747559 | NOTCH3 | c.1841-4C= (n.1841-4C=) c.1838-4C= (n.1838-4C=) | |
19 | g.15186994G>A | CA632128047 | NOTCH3 | c.1841-6C>T (n.1841-6C>T) c.1838-6C>T (n.1838-6C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15186994G= | CA2324747560 | NOTCH3 | c.1841-6C= (n.1841-6C=) c.1838-6C= (n.1838-6C=) | |
19 | g.15186994G>T | CA305774711 | NOTCH3 | c.1841-6C>A (n.1841-6C>A) c.1838-6C>A (n.1838-6C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |