Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.745966A= | CA2242474502 | GEMIN4 | c.2077T= (p.Ser693=) c.2044T= (p.Ser682=) c.2089T= (p.Ser697=) | |
17 | g.745966A>C | CA397505742 | GEMIN4 | c.2077T>G (p.Ser693Ala) c.2044T>G (p.Ser682Ala) c.2089T>G (p.Ser697Ala) | |
17 | g.745966A>G | CA397505743 | GEMIN4 | c.2077T>C (p.Ser693Pro) c.2044T>C (p.Ser682Pro) c.2089T>C (p.Ser697Pro) | |
17 | g.745966A>T | CA8262493 | GEMIN4 | c.2077T>A (p.Ser693Thr) c.2044T>A (p.Ser682Thr) c.2089T>A (p.Ser697Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745967G>A | CA497383888 | GEMIN4 | c.2076C>T (p.Cys692=) c.2043C>T (p.Cys681=) c.2088C>T (p.Cys696=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745967G>C | CA397505744 | GEMIN4 | c.2076C>G (p.Cys692Trp) c.2043C>G (p.Cys681Trp) c.2088C>G (p.Cys696Trp) | |
17 | g.745967G= | CA2242474503 | GEMIN4 | c.2076C= (p.Cys692=) c.2043C= (p.Cys681=) c.2088C= (p.Cys696=) | |
17 | g.745967G>T | CA397505745 | GEMIN4 | c.2076C>A (p.Cys692Ter) c.2043C>A (p.Cys681Ter) c.2088C>A (p.Cys696Ter) | gnomAD v4 |
17 | g.745968C>A | CA397505746 | GEMIN4 | c.2075G>T (p.Cys692Phe) c.2042G>T (p.Cys681Phe) c.2087G>T (p.Cys696Phe) | |
17 | g.745968C>G | CA397505747 | GEMIN4 | c.2075G>C (p.Cys692Ser) c.2042G>C (p.Cys681Ser) c.2087G>C (p.Cys696Ser) | |
17 | g.745968C>T | CA397505748 | GEMIN4 | c.2075G>A (p.Cys692Tyr) c.2042G>A (p.Cys681Tyr) c.2087G>A (p.Cys696Tyr) | |
17 | g.745969A>C | CA397505751 | GEMIN4 | c.2074T>G (p.Cys692Gly) c.2041T>G (p.Cys681Gly) c.2086T>G (p.Cys696Gly) | |
17 | g.745969A>G | CA397505750 | GEMIN4 | c.2074T>C (p.Cys692Arg) c.2041T>C (p.Cys681Arg) c.2086T>C (p.Cys696Arg) | COSMIC COSMIC |
17 | g.745969A>T | CA397505749 | GEMIN4 | c.2074T>A (p.Cys692Ser) c.2041T>A (p.Cys681Ser) c.2086T>A (p.Cys696Ser) | |
17 | g.745970G>A | CA497383894 | GEMIN4 | c.2073C>T (p.Thr691=) c.2040C>T (p.Thr680=) c.2085C>T (p.Thr695=) | |
17 | g.745970G>C | CA497383893 | GEMIN4 | c.2073C>G (p.Thr691=) c.2040C>G (p.Thr680=) c.2085C>G (p.Thr695=) | gnomAD v4 |
17 | g.745970G>T | CA497383892 | GEMIN4 | c.2073C>A (p.Thr691=) c.2040C>A (p.Thr680=) c.2085C>A (p.Thr695=) | |
17 | g.745971G>A | CA397505752 | GEMIN4 | c.2072C>T (p.Thr691Ile) c.2039C>T (p.Thr680Ile) c.2084C>T (p.Thr695Ile) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745971G>C | CA397505753 | GEMIN4 | c.2072C>G (p.Thr691Ser) c.2039C>G (p.Thr680Ser) c.2084C>G (p.Thr695Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745971G= | CA2242474504 | GEMIN4 | c.2072C= (p.Thr691=) c.2039C= (p.Thr680=) c.2084C= (p.Thr695=) | |
17 | g.745971G>T | CA397505754 | GEMIN4 | c.2072C>A (p.Thr691Asn) c.2039C>A (p.Thr680Asn) c.2084C>A (p.Thr695Asn) | |
17 | g.745972T>A | CA397505755 | GEMIN4 | c.2071A>T (p.Thr691Ser) c.2038A>T (p.Thr680Ser) c.2083A>T (p.Thr695Ser) | |
17 | g.745972T>C | CA397505756 | GEMIN4 | c.2071A>G (p.Thr691Ala) c.2038A>G (p.Thr680Ala) c.2083A>G (p.Thr695Ala) | |
17 | g.745972T>G | CA397505757 | GEMIN4 | c.2071A>C (p.Thr691Pro) c.2038A>C (p.Thr680Pro) c.2083A>C (p.Thr695Pro) | dbSNP |
17 | g.745973C>A | CA397505758 | GEMIN4 | c.2070G>T (p.Gln690His) c.2037G>T (p.Gln679His) c.2082G>T (p.Gln694His) | |
17 | g.745973C= | CA2242474505 | GEMIN4 | c.2070G= (p.Gln690=) c.2037G= (p.Gln679=) c.2082G= (p.Gln694=) | |
17 | g.745973C>G | CA397505759 | GEMIN4 | c.2070G>C (p.Gln690His) c.2037G>C (p.Gln679His) c.2082G>C (p.Gln694His) | |
17 | g.745973C>T | CA8262494 | GEMIN4 | c.2070G>A (p.Gln690=) c.2037G>A (p.Gln679=) c.2082G>A (p.Gln694=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745974T>A | CA397505760 | GEMIN4 | c.2069A>T (p.Gln690Leu) c.2036A>T (p.Gln679Leu) c.2081A>T (p.Gln694Leu) | |
17 | g.745974T>C | CA397505761 | GEMIN4 | c.2069A>G (p.Gln690Arg) c.2036A>G (p.Gln679Arg) c.2081A>G (p.Gln694Arg) | |
17 | g.745974T>G | CA397505762 | GEMIN4 | c.2069A>C (p.Gln690Pro) c.2036A>C (p.Gln679Pro) c.2081A>C (p.Gln694Pro) | |
17 | g.745975G>A | CA8262495 | GEMIN4 | c.2068C>T (p.Gln690Ter) c.2035C>T (p.Gln679Ter) c.2080C>T (p.Gln694Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.745975G>C | CA397505764 | GEMIN4 | c.2068C>G (p.Gln690Glu) c.2035C>G (p.Gln679Glu) c.2080C>G (p.Gln694Glu) | |
17 | g.745975G= | CA2242474506 | GEMIN4 | c.2068C= (p.Gln690=) c.2035C= (p.Gln679=) c.2080C= (p.Gln694=) | |
17 | g.745975G>T | CA397505763 | GEMIN4 | c.2068C>A (p.Gln690Lys) c.2035C>A (p.Gln679Lys) c.2080C>A (p.Gln694Lys) | |
17 | g.745976G>A | CA497383906 | GEMIN4 | c.2067C>T (p.Leu689=) c.2034C>T (p.Leu678=) c.2079C>T (p.Leu693=) | |
17 | g.745976G>C | CA497383908 | GEMIN4 | c.2067C>G (p.Leu689=) c.2034C>G (p.Leu678=) c.2079C>G (p.Leu693=) | |
17 | g.745976G>T | CA497383905 | GEMIN4 | c.2067C>A (p.Leu689=) c.2034C>A (p.Leu678=) c.2079C>A (p.Leu693=) | |
17 | g.745977A= | CA2242474507 | GEMIN4 | c.2066T= (p.Leu689=) c.2033T= (p.Leu678=) c.2078T= (p.Leu693=) | |
17 | g.745977A>C | CA397505765 | GEMIN4 | c.2066T>G (p.Leu689Arg) c.2033T>G (p.Leu678Arg) c.2078T>G (p.Leu693Arg) | |
17 | g.745977A>G | CA397505767 | GEMIN4 | c.2066T>C (p.Leu689Pro) c.2033T>C (p.Leu678Pro) c.2078T>C (p.Leu693Pro) | gnomAD v4 |
17 | g.745977A>T | CA397505766 | GEMIN4 | c.2066T>A (p.Leu689His) c.2033T>A (p.Leu678His) c.2078T>A (p.Leu693His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.745978G>A | CA8262496 | GEMIN4 | c.2065C>T (p.Leu689Phe) c.2032C>T (p.Leu678Phe) c.2077C>T (p.Leu693Phe) | dbSNP ExAC gnomAD v2 |
17 | g.745978G>C | CA397505769 | GEMIN4 | c.2065C>G (p.Leu689Val) c.2032C>G (p.Leu678Val) c.2077C>G (p.Leu693Val) | |
17 | g.745978G= | CA2242474508 | GEMIN4 | c.2065C= (p.Leu689=) c.2032C= (p.Leu678=) c.2077C= (p.Leu693=) | |
17 | g.745978G>T | CA397505768 | GEMIN4 | c.2065C>A (p.Leu689Ile) c.2032C>A (p.Leu678Ile) c.2077C>A (p.Leu693Ile) | |
17 | g.745979C>A | CA397505770 | GEMIN4 | c.2064G>T (p.Trp688Cys) c.2031G>T (p.Trp677Cys) c.2076G>T (p.Trp692Cys) | |
17 | g.745979C>G | CA397505771 | GEMIN4 | c.2064G>C (p.Trp688Cys) c.2031G>C (p.Trp677Cys) c.2076G>C (p.Trp692Cys) | |
17 | g.745979C>T | CA397505772 | GEMIN4 | c.2064G>A (p.Trp688Ter) c.2031G>A (p.Trp677Ter) c.2076G>A (p.Trp692Ter) | |
17 | g.745980C>A | CA397505773 | GEMIN4 | c.2063G>T (p.Trp688Leu) c.2030G>T (p.Trp677Leu) c.2075G>T (p.Trp692Leu) | |
17 | g.745980C= | CA2242474509 | GEMIN4 | c.2063G= (p.Trp688=) c.2030G= (p.Trp677=) c.2075G= (p.Trp692=) | |
17 | g.745980C>G | CA397505774 | GEMIN4 | c.2063G>C (p.Trp688Ser) c.2030G>C (p.Trp677Ser) c.2075G>C (p.Trp692Ser) | |
17 | g.745980C>T | CA397505775 | GEMIN4 | c.2063G>A (p.Trp688Ter) c.2030G>A (p.Trp677Ter) c.2075G>A (p.Trp692Ter) | dbSNP gnomAD v2 |
17 | g.745981A= | CA2242474510 | GEMIN4 | c.2062T= (p.Trp688=) c.2029T= (p.Trp677=) c.2074T= (p.Trp692=) | |
17 | g.745981A>C | CA397505776 | GEMIN4 | c.2062T>G (p.Trp688Gly) c.2029T>G (p.Trp677Gly) c.2074T>G (p.Trp692Gly) | dbSNP |
17 | g.745981A>G | CA397505777 | GEMIN4 | c.2062T>C (p.Trp688Arg) c.2029T>C (p.Trp677Arg) c.2074T>C (p.Trp692Arg) | dbSNP gnomAD v2 |
17 | g.745981A>T | CA397505778 | GEMIN4 | c.2062T>A (p.Trp688Arg) c.2029T>A (p.Trp677Arg) c.2074T>A (p.Trp692Arg) | |
17 | g.745982G>A | CA497383915 | GEMIN4 | c.2061C>T (p.Tyr687=) c.2028C>T (p.Tyr676=) c.2073C>T (p.Tyr691=) | gnomAD v4 COSMIC COSMIC |
17 | g.745982G>C | CA397505779 | GEMIN4 | c.2061C>G (p.Tyr687Ter) c.2028C>G (p.Tyr676Ter) c.2073C>G (p.Tyr691Ter) | |
17 | g.745982G>T | CA397505780 | GEMIN4 | c.2061C>A (p.Tyr687Ter) c.2028C>A (p.Tyr676Ter) c.2073C>A (p.Tyr691Ter) | |
17 | g.745983T>A | CA397505783 | GEMIN4 | c.2060A>T (p.Tyr687Phe) c.2027A>T (p.Tyr676Phe) c.2072A>T (p.Tyr691Phe) | |
17 | g.745983T>C | CA397505781 | GEMIN4 | c.2060A>G (p.Tyr687Cys) c.2027A>G (p.Tyr676Cys) c.2072A>G (p.Tyr691Cys) | |
17 | g.745983T>G | CA397505782 | GEMIN4 | c.2060A>C (p.Tyr687Ser) c.2027A>C (p.Tyr676Ser) c.2072A>C (p.Tyr691Ser) | |
17 | g.745984A>C | CA397505784 | GEMIN4 | c.2059T>G (p.Tyr687Asp) c.2026T>G (p.Tyr676Asp) c.2071T>G (p.Tyr691Asp) | |
17 | g.745984A>G | CA397505785 | GEMIN4 | c.2059T>C (p.Tyr687His) c.2026T>C (p.Tyr676His) c.2071T>C (p.Tyr691His) | |
17 | g.745984A>T | CA397505786 | GEMIN4 | c.2059T>A (p.Tyr687Asn) c.2026T>A (p.Tyr676Asn) c.2071T>A (p.Tyr691Asn) | |
17 | g.745985T>A | CA397505787 | GEMIN4 | c.2058A>T (p.Glu686Asp) c.2025A>T (p.Glu675Asp) c.2070A>T (p.Glu690Asp) | |
17 | g.745985T>C | CA497383918 | GEMIN4 | c.2058A>G (p.Glu686=) c.2025A>G (p.Glu675=) c.2070A>G (p.Glu690=) | dbSNP |
17 | g.745985T>G | CA286713668 | GEMIN4 | c.2058A>C (p.Glu686Asp) c.2025A>C (p.Glu675Asp) c.2070A>C (p.Glu690Asp) | dbSNP |
17 | g.745985T= | CA2242474511 | GEMIN4 | c.2058A= (p.Glu686=) c.2025A= (p.Glu675=) c.2070A= (p.Glu690=) | |
17 | g.745986T>A | CA397505788 | GEMIN4 | c.2057A>T (p.Glu686Val) c.2024A>T (p.Glu675Val) c.2069A>T (p.Glu690Val) | |
17 | g.745986T>C | CA397505789 | GEMIN4 | c.2057A>G (p.Glu686Gly) c.2024A>G (p.Glu675Gly) c.2069A>G (p.Glu690Gly) | |
17 | g.745986T>G | CA397505790 | GEMIN4 | c.2057A>C (p.Glu686Ala) c.2024A>C (p.Glu675Ala) c.2069A>C (p.Glu690Ala) | |
17 | g.745987C>A | CA397505791 | GEMIN4 | c.2056G>T (p.Glu686Ter) c.2023G>T (p.Glu675Ter) c.2068G>T (p.Glu690Ter) | |
17 | g.745987C= | CA2242474512 | GEMIN4 | c.2056G= (p.Glu686=) c.2023G= (p.Glu675=) c.2068G= (p.Glu690=) | |
17 | g.745987C>G | CA397505792 | GEMIN4 | c.2056G>C (p.Glu686Gln) c.2023G>C (p.Glu675Gln) c.2068G>C (p.Glu690Gln) | |
17 | g.745987C>T | CA397505793 | GEMIN4 | c.2056G>A (p.Glu686Lys) c.2023G>A (p.Glu675Lys) c.2068G>A (p.Glu690Lys) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745988C>A | CA397505795 | GEMIN4 | c.2055G>T (p.Glu685Asp) c.2022G>T (p.Glu674Asp) c.2067G>T (p.Glu689Asp) | |
17 | g.745988C= | CA2242474513 | GEMIN4 | c.2055G= (p.Glu685=) c.2022G= (p.Glu674=) c.2067G= (p.Glu689=) | |
17 | g.745988C>G | CA397505794 | GEMIN4 | c.2055G>C (p.Glu685Asp) c.2022G>C (p.Glu674Asp) c.2067G>C (p.Glu689Asp) | |
17 | g.745988C>T | CA497383921 | GEMIN4 | c.2055G>A (p.Glu685=) c.2022G>A (p.Glu674=) c.2067G>A (p.Glu689=) | dbSNP |
17 | g.745989T>A | CA397505796 | GEMIN4 | c.2054A>T (p.Glu685Val) c.2021A>T (p.Glu674Val) c.2066A>T (p.Glu689Val) | dbSNP |
17 | g.745989T>C | CA397505797 | GEMIN4 | c.2054A>G (p.Glu685Gly) c.2021A>G (p.Glu674Gly) c.2066A>G (p.Glu689Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745989T>G | CA397505798 | GEMIN4 | c.2054A>C (p.Glu685Ala) c.2021A>C (p.Glu674Ala) c.2066A>C (p.Glu689Ala) | |
17 | g.745989T= | CA2242474514 | GEMIN4 | c.2054A= (p.Glu685=) c.2021A= (p.Glu674=) c.2066A= (p.Glu689=) | |
17 | g.745990C>A | CA397505799 | GEMIN4 | c.2053G>T (p.Glu685Ter) c.2020G>T (p.Glu674Ter) c.2065G>T (p.Glu689Ter) | |
17 | g.745990C= | CA2242474515 | GEMIN4 | c.2053G= (p.Glu685=) c.2020G= (p.Glu674=) c.2065G= (p.Glu689=) | |
17 | g.745990C>G | CA397505800 | GEMIN4 | c.2053G>C (p.Glu685Gln) c.2020G>C (p.Glu674Gln) c.2065G>C (p.Glu689Gln) | |
17 | g.745990C>T | CA397505801 | GEMIN4 | c.2053G>A (p.Glu685Lys) c.2020G>A (p.Glu674Lys) c.2065G>A (p.Glu689Lys) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.745991T>A | CA497383924 | GEMIN4 | c.2052A>T (p.Arg684=) c.2019A>T (p.Arg673=) c.2064A>T (p.Arg688=) | |
17 | g.745991T>C | CA497383925 | GEMIN4 | c.2052A>G (p.Arg684=) c.2019A>G (p.Arg673=) c.2064A>G (p.Arg688=) | |
17 | g.745991T>G | CA497383926 | GEMIN4 | c.2052A>C (p.Arg684=) c.2019A>C (p.Arg673=) c.2064A>C (p.Arg688=) | |
17 | g.745992C>A | CA397505802 | GEMIN4 | c.2051G>T (p.Arg684Leu) c.2018G>T (p.Arg673Leu) c.2063G>T (p.Arg688Leu) | gnomAD v4 |
17 | g.745992C= | CA2242474516 | GEMIN4 | c.2051G= (p.Arg684=) c.2018G= (p.Arg673=) c.2063G= (p.Arg688=) | |
17 | g.745992C>G | CA397505803 | GEMIN4 | c.2051G>C (p.Arg684Pro) c.2018G>C (p.Arg673Pro) c.2063G>C (p.Arg688Pro) | |
17 | g.745992C>T | CA8262497 | GEMIN4 | c.2051G>A (p.Arg684Gln) c.2018G>A (p.Arg673Gln) c.2063G>A (p.Arg688Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745993G>A | CA8262498 | GEMIN4 | c.2050C>T (p.Arg684Ter) c.2017C>T (p.Arg673Ter) c.2062C>T (p.Arg688Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745993G>C | CA397505804 | GEMIN4 | c.2050C>G (p.Arg684Gly) c.2017C>G (p.Arg673Gly) c.2062C>G (p.Arg688Gly) | |
17 | g.745993G= | CA2242474517 | GEMIN4 | c.2050C= (p.Arg684=) c.2017C= (p.Arg673=) c.2062C= (p.Arg688=) | |
17 | g.745993G>T | CA497383931 | GEMIN4 | c.2050C>A (p.Arg684=) c.2017C>A (p.Arg673=) c.2062C>A (p.Arg688=) | |
17 | g.745994G>A | CA497383933 | GEMIN4 | c.2049C>T (p.Cys683=) c.2016C>T (p.Cys672=) c.2061C>T (p.Cys687=) | |
17 | g.745994G>C | CA397505805 | GEMIN4 | c.2049C>G (p.Cys683Trp) c.2016C>G (p.Cys672Trp) c.2061C>G (p.Cys687Trp) | |
17 | g.745994G>T | CA397505806 | GEMIN4 | c.2049C>A (p.Cys683Ter) c.2016C>A (p.Cys672Ter) c.2061C>A (p.Cys687Ter) | gnomAD v4 |
17 | g.745995C>A | CA397505809 | GEMIN4 | c.2048G>T (p.Cys683Phe) c.2015G>T (p.Cys672Phe) c.2060G>T (p.Cys687Phe) | |
17 | g.745995C>G | CA397505807 | GEMIN4 | c.2048G>C (p.Cys683Ser) c.2015G>C (p.Cys672Ser) c.2060G>C (p.Cys687Ser) | |
17 | g.745995C>T | CA397505808 | GEMIN4 | c.2048G>A (p.Cys683Tyr) c.2015G>A (p.Cys672Tyr) c.2060G>A (p.Cys687Tyr) | |
17 | g.745996A= | CA2242474518 | GEMIN4 | c.2047T= (p.Cys683=) c.2014T= (p.Cys672=) c.2059T= (p.Cys687=) | |
17 | g.745996A>C | CA397505810 | GEMIN4 | c.2047T>G (p.Cys683Gly) c.2014T>G (p.Cys672Gly) c.2059T>G (p.Cys687Gly) | |
17 | g.745996A>G | CA286713669 | GEMIN4 | c.2047T>C (p.Cys683Arg) c.2014T>C (p.Cys672Arg) c.2059T>C (p.Cys687Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.745996A>T | CA397505811 | GEMIN4 | c.2047T>A (p.Cys683Ser) c.2014T>A (p.Cys672Ser) c.2059T>A (p.Cys687Ser) | |
17 | g.745997C>A | CA497383938 | GEMIN4 | c.2046G>T (p.Ala682=) c.2013G>T (p.Ala671=) c.2058G>T (p.Ala686=) | |
17 | g.745997C= | CA2242474519 | GEMIN4 | c.2046G= (p.Ala682=) c.2013G= (p.Ala671=) c.2058G= (p.Ala686=) | |
17 | g.745997C>G | CA497383940 | GEMIN4 | c.2046G>C (p.Ala682=) c.2013G>C (p.Ala671=) c.2058G>C (p.Ala686=) | |
17 | g.745997C>T | CA497383941 | GEMIN4 | c.2046G>A (p.Ala682=) c.2013G>A (p.Ala671=) c.2058G>A (p.Ala686=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745998G>A | CA286713670 | GEMIN4 | c.2045C>T (p.Ala682Val) c.2012C>T (p.Ala671Val) c.2057C>T (p.Ala686Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.745998G>C | CA397505812 | GEMIN4 | c.2045C>G (p.Ala682Gly) c.2012C>G (p.Ala671Gly) c.2057C>G (p.Ala686Gly) | COSMIC COSMIC |
17 | g.745998G= | CA2242474520 | GEMIN4 | c.2045C= (p.Ala682=) c.2012C= (p.Ala671=) c.2057C= (p.Ala686=) | |
17 | g.745998G>T | CA397505813 | GEMIN4 | c.2045C>A (p.Ala682Glu) c.2012C>A (p.Ala671Glu) c.2057C>A (p.Ala686Glu) | |
17 | g.745998dup | CA2635153305 | GEMIN4 | c.2045dup (p.Cys683ValfsTer?) c.2012dup (p.Cys672ValfsTer?) c.2057dup (p.Cys687ValfsTer?) | gnomAD v4 |
17 | g.745999C>A | CA397505814 | GEMIN4 | c.2044G>T (p.Ala682Ser) c.2011G>T (p.Ala671Ser) c.2056G>T (p.Ala686Ser) | |
17 | g.745999C= | CA2242474521 | GEMIN4 | c.2044G= (p.Ala682=) c.2011G= (p.Ala671=) c.2056G= (p.Ala686=) | |
17 | g.745999C>G | CA397505815 | GEMIN4 | c.2044G>C (p.Ala682Pro) c.2011G>C (p.Ala671Pro) c.2056G>C (p.Ala686Pro) | |
17 | g.745999C>T | CA8262499 | GEMIN4 | c.2044G>A (p.Ala682Thr) c.2011G>A (p.Ala671Thr) c.2056G>A (p.Ala686Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746000G>A | CA8262500 | GEMIN4 | c.2043C>T (p.Asn681=) c.2010C>T (p.Asn670=) c.2055C>T (p.Asn685=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.746000G>C | CA397505816 | GEMIN4 | c.2043C>G (p.Asn681Lys) c.2010C>G (p.Asn670Lys) c.2055C>G (p.Asn685Lys) | |
17 | g.746000G= | CA2242474522 | GEMIN4 | c.2043C= (p.Asn681=) c.2010C= (p.Asn670=) c.2055C= (p.Asn685=) | |
17 | g.746000G>T | CA397505817 | GEMIN4 | c.2043C>A (p.Asn681Lys) c.2010C>A (p.Asn670Lys) c.2055C>A (p.Asn685Lys) | |
17 | g.746001T>A | CA397505820 | GEMIN4 | c.2042A>T (p.Asn681Ile) c.2009A>T (p.Asn670Ile) c.2054A>T (p.Asn685Ile) | |
17 | g.746001T>C | CA397505819 | GEMIN4 | c.2042A>G (p.Asn681Ser) c.2009A>G (p.Asn670Ser) c.2054A>G (p.Asn685Ser) | |
17 | g.746001T>G | CA397505818 | GEMIN4 | c.2042A>C (p.Asn681Thr) c.2009A>C (p.Asn670Thr) c.2054A>C (p.Asn685Thr) | |
17 | g.746002T>A | CA8262501 | GEMIN4 | c.2041A>T (p.Asn681Tyr) c.2008A>T (p.Asn670Tyr) c.2053A>T (p.Asn685Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746002T>C | CA397505822 | GEMIN4 | c.2041A>G (p.Asn681Asp) c.2008A>G (p.Asn670Asp) c.2053A>G (p.Asn685Asp) | gnomAD v4 |
17 | g.746002T>G | CA397505821 | GEMIN4 | c.2041A>C (p.Asn681His) c.2008A>C (p.Asn670His) c.2053A>C (p.Asn685His) | |
17 | g.746002T= | CA2242474523 | GEMIN4 | c.2041A= (p.Asn681=) c.2008A= (p.Asn670=) c.2053A= (p.Asn685=) | |
17 | g.746003T>A | CA497383951 | GEMIN4 | c.2040A>T (p.Ala680=) c.2007A>T (p.Ala669=) c.2052A>T (p.Ala684=) | |
17 | g.746003T>C | CA497383952 | GEMIN4 | c.2040A>G (p.Ala680=) c.2007A>G (p.Ala669=) c.2052A>G (p.Ala684=) | |
17 | g.746003T>G | CA497383954 | GEMIN4 | c.2040A>C (p.Ala680=) c.2007A>C (p.Ala669=) c.2052A>C (p.Ala684=) | |
17 | g.746004G>A | CA397505823 | GEMIN4 | c.2039C>T (p.Ala680Val) c.2006C>T (p.Ala669Val) c.2051C>T (p.Ala684Val) | dbSNP gnomAD v4 |
17 | g.746004G>C | CA397505824 | GEMIN4 | c.2039C>G (p.Ala680Gly) c.2006C>G (p.Ala669Gly) c.2051C>G (p.Ala684Gly) | |
17 | g.746004G= | CA2242474524 | GEMIN4 | c.2039C= (p.Ala680=) c.2006C= (p.Ala669=) c.2051C= (p.Ala684=) | |
17 | g.746004G>T | CA397505825 | GEMIN4 | c.2039C>A (p.Ala680Glu) c.2006C>A (p.Ala669Glu) c.2051C>A (p.Ala684Glu) | dbSNP |
17 | g.746005C>A | CA397505826 | GEMIN4 | c.2038G>T (p.Ala680Ser) c.2005G>T (p.Ala669Ser) c.2050G>T (p.Ala684Ser) | |
17 | g.746005C= | CA2242474525 | GEMIN4 | c.2038G= (p.Ala680=) c.2005G= (p.Ala669=) c.2050G= (p.Ala684=) | |
17 | g.746005C>G | CA397505827 | GEMIN4 | c.2038G>C (p.Ala680Pro) c.2005G>C (p.Ala669Pro) c.2050G>C (p.Ala684Pro) | |
17 | g.746005C>T | CA8262502 | GEMIN4 | c.2038G>A (p.Ala680Thr) c.2005G>A (p.Ala669Thr) c.2050G>A (p.Ala684Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746006C>A | CA397505828 | GEMIN4 | c.2037G>T (p.Glu679Asp) c.2004G>T (p.Glu668Asp) c.2049G>T (p.Glu683Asp) | |
17 | g.746006C= | CA2242474526 | GEMIN4 | c.2037G= (p.Glu679=) c.2004G= (p.Glu668=) c.2049G= (p.Glu683=) | |
17 | g.746006C>G | CA397505829 | GEMIN4 | c.2037G>C (p.Glu679Asp) c.2004G>C (p.Glu668Asp) c.2049G>C (p.Glu683Asp) | |
17 | g.746006C>T | CA286713671 | GEMIN4 | c.2037G>A (p.Glu679=) c.2004G>A (p.Glu668=) c.2049G>A (p.Glu683=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746007T>A | CA397505830 | GEMIN4 | c.2036A>T (p.Glu679Val) c.2003A>T (p.Glu668Val) c.2048A>T (p.Glu683Val) | |
17 | g.746007T>C | CA397505831 | GEMIN4 | c.2036A>G (p.Glu679Gly) c.2003A>G (p.Glu668Gly) c.2048A>G (p.Glu683Gly) | gnomAD v4 |
17 | g.746007T>G | CA397505832 | GEMIN4 | c.2036A>C (p.Glu679Ala) c.2003A>C (p.Glu668Ala) c.2048A>C (p.Glu683Ala) | |
17 | g.746008C>A | CA397505835 | GEMIN4 | c.2035G>T (p.Glu679Ter) c.2002G>T (p.Glu668Ter) c.2047G>T (p.Glu683Ter) | |
17 | g.746008C>G | CA397505834 | GEMIN4 | c.2035G>C (p.Glu679Gln) c.2002G>C (p.Glu668Gln) c.2047G>C (p.Glu683Gln) | |
17 | g.746008C>T | CA397505833 | GEMIN4 | c.2035G>A (p.Glu679Lys) c.2002G>A (p.Glu668Lys) c.2047G>A (p.Glu683Lys) | |
17 | g.746009T>A | CA497383970 | GEMIN4 | c.2034A>T (p.Leu678=) c.2001A>T (p.Leu667=) c.2046A>T (p.Leu682=) | |
17 | g.746009T>C | CA497383971 | GEMIN4 | c.2034A>G (p.Leu678=) c.2001A>G (p.Leu667=) c.2046A>G (p.Leu682=) | |
17 | g.746009T>G | CA497383973 | GEMIN4 | c.2034A>C (p.Leu678=) c.2001A>C (p.Leu667=) c.2046A>C (p.Leu682=) | |
17 | g.746010A= | CA2242474527 | GEMIN4 | c.2033T= (p.Leu678=) c.2000T= (p.Leu667=) c.2045T= (p.Leu682=) | |
17 | g.746010A>C | CA397505836 | GEMIN4 | c.2033T>G (p.Leu678Arg) c.2000T>G (p.Leu667Arg) c.2045T>G (p.Leu682Arg) | |
17 | g.746010A>G | CA8262503 | GEMIN4 | c.2033T>C (p.Leu678Pro) c.2000T>C (p.Leu667Pro) c.2045T>C (p.Leu682Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746010A>T | CA397505837 | GEMIN4 | c.2033T>A (p.Leu678Gln) c.2000T>A (p.Leu667Gln) c.2045T>A (p.Leu682Gln) | |
17 | g.746011G>A | CA497383979 | GEMIN4 | c.2032C>T (p.Leu678=) c.1999C>T (p.Leu667=) c.2044C>T (p.Leu682=) | |
17 | g.746011G>C | CA397505838 | GEMIN4 | c.2032C>G (p.Leu678Val) c.1999C>G (p.Leu667Val) c.2044C>G (p.Leu682Val) | |
17 | g.746011G>T | CA397505839 | GEMIN4 | c.2032C>A (p.Leu678Ile) c.1999C>A (p.Leu667Ile) c.2044C>A (p.Leu682Ile) | gnomAD v4 |
17 | g.746012A= | CA2242474528 | GEMIN4 | c.2031T= (p.Thr677=) c.1998T= (p.Thr666=) c.2043T= (p.Thr681=) | |
17 | g.746012A>C | CA8262504 | GEMIN4 | c.2031T>G (p.Thr677=) c.1998T>G (p.Thr666=) c.2043T>G (p.Thr681=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746012A>G | CA497383982 | GEMIN4 | c.2031T>C (p.Thr677=) c.1998T>C (p.Thr666=) c.2043T>C (p.Thr681=) | |
17 | g.746012A>T | CA497383983 | GEMIN4 | c.2031T>A (p.Thr677=) c.1998T>A (p.Thr666=) c.2043T>A (p.Thr681=) | |
17 | g.746013G>A | CA8262505 | GEMIN4 | c.2030C>T (p.Thr677Ile) c.1997C>T (p.Thr666Ile) c.2042C>T (p.Thr681Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746013G>C | CA397505840 | GEMIN4 | c.2030C>G (p.Thr677Ser) c.1997C>G (p.Thr666Ser) c.2042C>G (p.Thr681Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746013G= | CA2242474529 | GEMIN4 | c.2030C= (p.Thr677=) c.1997C= (p.Thr666=) c.2042C= (p.Thr681=) | |
17 | g.746013G>T | CA397505841 | GEMIN4 | c.2030C>A (p.Thr677Asn) c.1997C>A (p.Thr666Asn) c.2042C>A (p.Thr681Asn) | |
17 | g.746014T>A | CA397505842 | GEMIN4 | c.2029A>T (p.Thr677Ser) c.1996A>T (p.Thr666Ser) c.2041A>T (p.Thr681Ser) | |
17 | g.746014T>C | CA397505843 | GEMIN4 | c.2029A>G (p.Thr677Ala) c.1996A>G (p.Thr666Ala) c.2041A>G (p.Thr681Ala) | |
17 | g.746014T>G | CA397505844 | GEMIN4 | c.2029A>C (p.Thr677Pro) c.1996A>C (p.Thr666Pro) c.2041A>C (p.Thr681Pro) | gnomAD v3 gnomAD v4 |
17 | g.746015C>A | CA397505845 | GEMIN4 | c.2028G>T (p.Gln676His) c.1995G>T (p.Gln665His) c.2040G>T (p.Gln680His) | |
17 | g.746015C= | CA2242474530 | GEMIN4 | c.2028G= (p.Gln676=) c.1995G= (p.Gln665=) c.2040G= (p.Gln680=) | |
17 | g.746015C>G | CA8262506 | GEMIN4 | c.2028G>C (p.Gln676His) c.1995G>C (p.Gln665His) c.2040G>C (p.Gln680His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746015C>T | CA497383990 | GEMIN4 | c.2028G>A (p.Gln676=) c.1995G>A (p.Gln665=) c.2040G>A (p.Gln680=) | |
17 | g.746016T>A | CA397505846 | GEMIN4 | c.2027A>T (p.Gln676Leu) c.1994A>T (p.Gln665Leu) c.2039A>T (p.Gln680Leu) | |
17 | g.746016T>C | CA397505847 | GEMIN4 | c.2027A>G (p.Gln676Arg) c.1994A>G (p.Gln665Arg) c.2039A>G (p.Gln680Arg) | |
17 | g.746016T>G | CA397505848 | GEMIN4 | c.2027A>C (p.Gln676Pro) c.1994A>C (p.Gln665Pro) c.2039A>C (p.Gln680Pro) | |
17 | g.746017G>A | CA397505849 | GEMIN4 | c.2026C>T (p.Gln676Ter) c.1993C>T (p.Gln665Ter) c.2038C>T (p.Gln680Ter) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746017G>C | CA397505850 | GEMIN4 | c.2026C>G (p.Gln676Glu) c.1993C>G (p.Gln665Glu) c.2038C>G (p.Gln680Glu) | gnomAD v4 |
17 | g.746017G= | CA2242474531 | GEMIN4 | c.2026C= (p.Gln676=) c.1993C= (p.Gln665=) c.2038C= (p.Gln680=) | |
17 | g.746017G>T | CA397505851 | GEMIN4 | c.2026C>A (p.Gln676Lys) c.1993C>A (p.Gln665Lys) c.2038C>A (p.Gln680Lys) | |
17 | g.746018G>A | CA497383997 | GEMIN4 | c.2025C>T (p.Ile675=) c.1992C>T (p.Ile664=) c.2037C>T (p.Ile679=) | |
17 | g.746018G>C | CA397505852 | GEMIN4 | c.2025C>G (p.Ile675Met) c.1992C>G (p.Ile664Met) c.2037C>G (p.Ile679Met) | |
17 | g.746018G>T | CA497383998 | GEMIN4 | c.2025C>A (p.Ile675=) c.1992C>A (p.Ile664=) c.2037C>A (p.Ile679=) | |
17 | g.746019A= | CA2242474532 | GEMIN4 | c.2024T= (p.Ile675=) c.1991T= (p.Ile664=) c.2036T= (p.Ile679=) | |
17 | g.746019A>C | CA286713672 | GEMIN4 | c.2024T>G (p.Ile675Ser) c.1991T>G (p.Ile664Ser) c.2036T>G (p.Ile679Ser) | dbSNP |
17 | g.746019A>G | CA397505853 | GEMIN4 | c.2024T>C (p.Ile675Thr) c.1991T>C (p.Ile664Thr) c.2036T>C (p.Ile679Thr) | dbSNP |
17 | g.746019A>T | CA397505854 | GEMIN4 | c.2024T>A (p.Ile675Asn) c.1991T>A (p.Ile664Asn) c.2036T>A (p.Ile679Asn) | |
17 | g.746020T>A | CA397505855 | GEMIN4 | c.2023A>T (p.Ile675Phe) c.1990A>T (p.Ile664Phe) c.2035A>T (p.Ile679Phe) | |
17 | g.746020T>C | CA397505856 | GEMIN4 | c.2023A>G (p.Ile675Val) c.1990A>G (p.Ile664Val) c.2035A>G (p.Ile679Val) | gnomAD v4 |
17 | g.746020T>G | CA397505857 | GEMIN4 | c.2023A>C (p.Ile675Leu) c.1990A>C (p.Ile664Leu) c.2035A>C (p.Ile679Leu) | |
17 | g.746020_746021delinsTG | CA2242474533 | GEMIN4 | c.2022_2023delinsCA (p.Phe674=) c.1989_1990delinsCA (p.Phe663=) c.2034_2035delinsCA (p.Phe678=) | |
17 | g.746021del | CA8262507 | GEMIN4 | c.2022del (p.Phe674LeufsTer5) c.1989del (p.Phe663LeufsTer5) c.2034del (p.Phe678LeufsTer5) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746021G>A | CA497384009 | GEMIN4 | c.2022C>T (p.Phe674=) c.1989C>T (p.Phe663=) c.2034C>T (p.Phe678=) | |
17 | g.746021G>C | CA397505859 | GEMIN4 | c.2022C>G (p.Phe674Leu) c.1989C>G (p.Phe663Leu) c.2034C>G (p.Phe678Leu) | |
17 | g.746021G>T | CA397505858 | GEMIN4 | c.2022C>A (p.Phe674Leu) c.1989C>A (p.Phe663Leu) c.2034C>A (p.Phe678Leu) | COSMIC COSMIC |
17 | g.746022A>C | CA397505860 | GEMIN4 | c.2021T>G (p.Phe674Cys) c.1988T>G (p.Phe663Cys) c.2033T>G (p.Phe678Cys) | |
17 | g.746022A>G | CA397505861 | GEMIN4 | c.2021T>C (p.Phe674Ser) c.1988T>C (p.Phe663Ser) c.2033T>C (p.Phe678Ser) | |
17 | g.746022A>T | CA397505862 | GEMIN4 | c.2021T>A (p.Phe674Tyr) c.1988T>A (p.Phe663Tyr) c.2033T>A (p.Phe678Tyr) | gnomAD v4 |
17 | g.746023A>C | CA397505863 | GEMIN4 | c.2020T>G (p.Phe674Val) c.1987T>G (p.Phe663Val) c.2032T>G (p.Phe678Val) | |
17 | g.746023A>G | CA397505864 | GEMIN4 | c.2020T>C (p.Phe674Leu) c.1987T>C (p.Phe663Leu) c.2032T>C (p.Phe678Leu) | |
17 | g.746023A>T | CA397505865 | GEMIN4 | c.2020T>A (p.Phe674Ile) c.1987T>A (p.Phe663Ile) c.2032T>A (p.Phe678Ile) | |
17 | g.746024G>A | CA497384018 | GEMIN4 | c.2019C>T (p.Ile673=) c.1986C>T (p.Ile662=) c.2031C>T (p.Ile677=) | |
17 | g.746024G>C | CA397505866 | GEMIN4 | c.2019C>G (p.Ile673Met) c.1986C>G (p.Ile662Met) c.2031C>G (p.Ile677Met) | |
17 | g.746024G>T | CA497384021 | GEMIN4 | c.2019C>A (p.Ile673=) c.1986C>A (p.Ile662=) c.2031C>A (p.Ile677=) | |
17 | g.746025A= | CA2242474534 | GEMIN4 | c.2018T= (p.Ile673=) c.1985T= (p.Ile662=) c.2030T= (p.Ile677=) | |
17 | g.746025A>C | CA397505867 | GEMIN4 | c.2018T>G (p.Ile673Ser) c.1985T>G (p.Ile662Ser) c.2030T>G (p.Ile677Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.746025A>G | CA397505868 | GEMIN4 | c.2018T>C (p.Ile673Thr) c.1985T>C (p.Ile662Thr) c.2030T>C (p.Ile677Thr) | dbSNP |
17 | g.746025A>T | CA397505869 | GEMIN4 | c.2018T>A (p.Ile673Asn) c.1985T>A (p.Ile662Asn) c.2030T>A (p.Ile677Asn) | |
17 | g.746026T>A | CA397505870 | GEMIN4 | c.2017A>T (p.Ile673Phe) c.1984A>T (p.Ile662Phe) c.2029A>T (p.Ile677Phe) | |
17 | g.746026T>C | CA397505871 | GEMIN4 | c.2017A>G (p.Ile673Val) c.1984A>G (p.Ile662Val) c.2029A>G (p.Ile677Val) | |
17 | g.746026T>G | CA397505872 | GEMIN4 | c.2017A>C (p.Ile673Leu) c.1984A>C (p.Ile662Leu) c.2029A>C (p.Ile677Leu) | |
17 | g.746027C>A | CA397505873 | GEMIN4 | c.2016G>T (p.Arg672Ser) c.1983G>T (p.Arg661Ser) c.2028G>T (p.Arg676Ser) | |
17 | g.746027C= | CA2242474535 | GEMIN4 | c.2016G= (p.Arg672=) c.1983G= (p.Arg661=) c.2028G= (p.Arg676=) | |
17 | g.746027C>G | CA397505874 | GEMIN4 | c.2016G>C (p.Arg672Ser) c.1983G>C (p.Arg661Ser) c.2028G>C (p.Arg676Ser) | |
17 | g.746027C>T | CA497384023 | GEMIN4 | c.2016G>A (p.Arg672=) c.1983G>A (p.Arg661=) c.2028G>A (p.Arg676=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746028dup | CA2838506408 | GEMIN4 | c.2016dup (p.Ile673AspfsTer?) c.1983dup (p.Ile662AspfsTer?) c.2028dup (p.Ile677AspfsTer?) | |
17 | g.746028C>A | CA397505875 | GEMIN4 | c.2015G>T (p.Arg672Met) c.1982G>T (p.Arg661Met) c.2027G>T (p.Arg676Met) | |
17 | g.746028C>G | CA397505877 | GEMIN4 | c.2015G>C (p.Arg672Thr) c.1982G>C (p.Arg661Thr) c.2027G>C (p.Arg676Thr) | |
17 | g.746028C>T | CA397505876 | GEMIN4 | c.2015G>A (p.Arg672Lys) c.1982G>A (p.Arg661Lys) c.2027G>A (p.Arg676Lys) | |
17 | g.746029T>A | CA286713673 | GEMIN4 | c.2014A>T (p.Arg672Trp) c.1981A>T (p.Arg661Trp) c.2026A>T (p.Arg676Trp) | dbSNP |
17 | g.746029T>C | CA397505878 | GEMIN4 | c.2014A>G (p.Arg672Gly) c.1981A>G (p.Arg661Gly) c.2026A>G (p.Arg676Gly) | |
17 | g.746029T>G | CA497384031 | GEMIN4 | c.2014A>C (p.Arg672=) c.1981A>C (p.Arg661=) c.2026A>C (p.Arg676=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746029T= | CA2242474536 | GEMIN4 | c.2014A= (p.Arg672=) c.1981A= (p.Arg661=) c.2026A= (p.Arg676=) | |
17 | g.746030C>A | CA497384033 | GEMIN4 | c.2013G>T (p.Leu671=) c.1980G>T (p.Leu660=) c.2025G>T (p.Leu675=) | |
17 | g.746030C>G | CA497384035 | GEMIN4 | c.2013G>C (p.Leu671=) c.1980G>C (p.Leu660=) c.2025G>C (p.Leu675=) | |
17 | g.746030C>T | CA497384037 | GEMIN4 | c.2013G>A (p.Leu671=) c.1980G>A (p.Leu660=) c.2025G>A (p.Leu675=) | |
17 | g.746031A= | CA2242474537 | GEMIN4 | c.2012T= (p.Leu671=) c.1979T= (p.Leu660=) c.2024T= (p.Leu675=) | |
17 | g.746031A>C | CA397505879 | GEMIN4 | c.2012T>G (p.Leu671Arg) c.1979T>G (p.Leu660Arg) c.2024T>G (p.Leu675Arg) | |
17 | g.746031A>G | CA397505881 | GEMIN4 | c.2012T>C (p.Leu671Pro) c.1979T>C (p.Leu660Pro) c.2024T>C (p.Leu675Pro) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.746031A>T | CA397505880 | GEMIN4 | c.2012T>A (p.Leu671Gln) c.1979T>A (p.Leu660Gln) c.2024T>A (p.Leu675Gln) | |
17 | g.746032G>A | CA8262508 | GEMIN4 | c.2011C>T (p.Leu671=) c.1978C>T (p.Leu660=) c.2023C>T (p.Leu675=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746032G>C | CA397505882 | GEMIN4 | c.2011C>G (p.Leu671Val) c.1978C>G (p.Leu660Val) c.2023C>G (p.Leu675Val) | dbSNP gnomAD v4 COSMIC COSMIC |
17 | g.746032G= | CA2242474538 | GEMIN4 | c.2011C= (p.Leu671=) c.1978C= (p.Leu660=) c.2023C= (p.Leu675=) | |
17 | g.746032G>T | CA397505883 | GEMIN4 | c.2011C>A (p.Leu671Met) c.1978C>A (p.Leu660Met) c.2023C>A (p.Leu675Met) | gnomAD v4 |
17 | g.746033A>C | CA397505884 | GEMIN4 | c.2010T>G (p.Ser670Arg) c.1977T>G (p.Ser659Arg) c.2022T>G (p.Ser674Arg) | |
17 | g.746033A>G | CA497384048 | GEMIN4 | c.2010T>C (p.Ser670=) c.1977T>C (p.Ser659=) c.2022T>C (p.Ser674=) | |
17 | g.746033A>T | CA397505885 | GEMIN4 | c.2010T>A (p.Ser670Arg) c.1977T>A (p.Ser659Arg) c.2022T>A (p.Ser674Arg) | |
17 | g.746033_746037del | CA2825002552 | GEMIN4 | c.2006_2010del (p.Leu669ProfsTer?) c.1973_1977del (p.Leu658ProfsTer?) c.2018_2022del (p.Leu673ProfsTer?) | ClinVar |
17 | g.746034C>A | CA397505886 | GEMIN4 | c.2009G>T (p.Ser670Ile) c.1976G>T (p.Ser659Ile) c.2021G>T (p.Ser674Ile) | |
17 | g.746034C>G | CA397505887 | GEMIN4 | c.2009G>C (p.Ser670Thr) c.1976G>C (p.Ser659Thr) c.2021G>C (p.Ser674Thr) | |
17 | g.746034C>T | CA397505888 | GEMIN4 | c.2009G>A (p.Ser670Asn) c.1976G>A (p.Ser659Asn) c.2021G>A (p.Ser674Asn) | gnomAD v4 |
17 | g.746035T>A | CA397505889 | GEMIN4 | c.2008A>T (p.Ser670Cys) c.1975A>T (p.Ser659Cys) c.2020A>T (p.Ser674Cys) | |
17 | g.746035T>C | CA397505890 | GEMIN4 | c.2008A>G (p.Ser670Gly) c.1975A>G (p.Ser659Gly) c.2020A>G (p.Ser674Gly) | gnomAD v4 |
17 | g.746035T>G | CA397505891 | GEMIN4 | c.2008A>C (p.Ser670Arg) c.1975A>C (p.Ser659Arg) c.2020A>C (p.Ser674Arg) | |
17 | g.746036G>A | CA497384053 | GEMIN4 | c.2007C>T (p.Leu669=) c.1974C>T (p.Leu658=) c.2019C>T (p.Leu673=) | |
17 | g.746036G>C | CA497384055 | GEMIN4 | c.2007C>G (p.Leu669=) c.1974C>G (p.Leu658=) c.2019C>G (p.Leu673=) | |
17 | g.746036G>T | CA497384054 | GEMIN4 | c.2007C>A (p.Leu669=) c.1974C>A (p.Leu658=) c.2019C>A (p.Leu673=) | |
17 | g.746037A>C | CA397505894 | GEMIN4 | c.2006T>G (p.Leu669Arg) c.1973T>G (p.Leu658Arg) c.2018T>G (p.Leu673Arg) | gnomAD v4 |
17 | g.746037A>G | CA397505893 | GEMIN4 | c.2006T>C (p.Leu669Pro) c.1973T>C (p.Leu658Pro) c.2018T>C (p.Leu673Pro) | |
17 | g.746037A>T | CA397505892 | GEMIN4 | c.2006T>A (p.Leu669His) c.1973T>A (p.Leu658His) c.2018T>A (p.Leu673His) | |
17 | g.746038G>A | CA8262509 | GEMIN4 | c.2005C>T (p.Leu669Phe) c.1972C>T (p.Leu658Phe) c.2017C>T (p.Leu673Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.746038G>C | CA397505895 | GEMIN4 | c.2005C>G (p.Leu669Val) c.1972C>G (p.Leu658Val) c.2017C>G (p.Leu673Val) | |
17 | g.746038G= | CA2242474539 | GEMIN4 | c.2005C= (p.Leu669=) c.1972C= (p.Leu658=) c.2017C= (p.Leu673=) | |
17 | g.746038G>T | CA397505896 | GEMIN4 | c.2005C>A (p.Leu669Ile) c.1972C>A (p.Leu658Ile) c.2017C>A (p.Leu673Ile) | |
17 | g.746039G>A | CA497384062 | GEMIN4 | c.2004C>T (p.Asp668=) c.1971C>T (p.Asp657=) c.2016C>T (p.Asp672=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.746039G>C | CA397505897 | GEMIN4 | c.2004C>G (p.Asp668Glu) c.1971C>G (p.Asp657Glu) c.2016C>G (p.Asp672Glu) | |
17 | g.746039G= | CA2242474540 | GEMIN4 | c.2004C= (p.Asp668=) c.1971C= (p.Asp657=) c.2016C= (p.Asp672=) | |
17 | g.746039G>T | CA397505898 | GEMIN4 | c.2004C>A (p.Asp668Glu) c.1971C>A (p.Asp657Glu) c.2016C>A (p.Asp672Glu) | dbSNP gnomAD v4 |
17 | g.746040T>A | CA397505899 | GEMIN4 | c.2003A>T (p.Asp668Val) c.1970A>T (p.Asp657Val) c.2015A>T (p.Asp672Val) | |
17 | g.746040T>C | CA397505900 | GEMIN4 | c.2003A>G (p.Asp668Gly) c.1970A>G (p.Asp657Gly) c.2015A>G (p.Asp672Gly) | |
17 | g.746040T>G | CA397505901 | GEMIN4 | c.2003A>C (p.Asp668Ala) c.1970A>C (p.Asp657Ala) c.2015A>C (p.Asp672Ala) | |
17 | g.746041C>A | CA397505902 | GEMIN4 | c.2002G>T (p.Asp668Tyr) c.1969G>T (p.Asp657Tyr) c.2014G>T (p.Asp672Tyr) | |
17 | g.746041C= | CA2242474541 | GEMIN4 | c.2002G= (p.Asp668=) c.1969G= (p.Asp657=) c.2014G= (p.Asp672=) | |
17 | g.746041C>G | CA397505903 | GEMIN4 | c.2002G>C (p.Asp668His) c.1969G>C (p.Asp657His) c.2014G>C (p.Asp672His) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.746041C>T | CA397505904 | GEMIN4 | c.2002G>A (p.Asp668Asn) c.1969G>A (p.Asp657Asn) c.2014G>A (p.Asp672Asn) | COSMIC |
17 | g.746042T>A | CA497384073 | GEMIN4 | c.2001A>T (p.Val667=) c.1968A>T (p.Val656=) c.2013A>T (p.Val671=) | |
17 | g.746042T>C | CA497384075 | GEMIN4 | c.2001A>G (p.Val667=) c.1968A>G (p.Val656=) c.2013A>G (p.Val671=) | |
17 | g.746042T>G | CA497384074 | GEMIN4 | c.2001A>C (p.Val667=) c.1968A>C (p.Val656=) c.2013A>C (p.Val671=) | |
17 | g.746043A>C | CA397505907 | GEMIN4 | c.2000T>G (p.Val667Gly) c.1967T>G (p.Val656Gly) c.2012T>G (p.Val671Gly) | |
17 | g.746043A>G | CA397505906 | GEMIN4 | c.2000T>C (p.Val667Ala) c.1967T>C (p.Val656Ala) c.2012T>C (p.Val671Ala) | |
17 | g.746043A>T | CA397505905 | GEMIN4 | c.2000T>A (p.Val667Glu) c.1967T>A (p.Val656Glu) c.2012T>A (p.Val671Glu) | |
17 | g.746044C>A | CA397505908 | GEMIN4 | c.1999G>T (p.Val667Leu) c.1966G>T (p.Val656Leu) c.2011G>T (p.Val671Leu) | |
17 | g.746044C>G | CA397505909 | GEMIN4 | c.1999G>C (p.Val667Leu) c.1966G>C (p.Val656Leu) c.2011G>C (p.Val671Leu) | |
17 | g.746044C>T | CA397505910 | GEMIN4 | c.1999G>A (p.Val667Ile) c.1966G>A (p.Val656Ile) c.2011G>A (p.Val671Ile) | gnomAD v4 |
17 | g.746045C>A | CA397505911 | GEMIN4 | c.1998G>T (p.Glu666Asp) c.1965G>T (p.Glu655Asp) c.2010G>T (p.Glu670Asp) | |
17 | g.746045C>G | CA397505912 | GEMIN4 | c.1998G>C (p.Glu666Asp) c.1965G>C (p.Glu655Asp) c.2010G>C (p.Glu670Asp) | gnomAD v4 |
17 | g.746045C>T | CA497384080 | GEMIN4 | c.1998G>A (p.Glu666=) c.1965G>A (p.Glu655=) c.2010G>A (p.Glu670=) | gnomAD v4 |
17 | g.746045_746048delinsCTCT | CA2242474542 | GEMIN4 | c.1995_1998delinsAGAG (p.Glu665=) c.1962_1965delinsAGAG (p.Glu654=) c.2007_2010delinsAGAG (p.Glu669=) | |
17 | g.746046T>A | CA397505913 | GEMIN4 | c.1997A>T (p.Glu666Val) c.1964A>T (p.Glu655Val) c.2009A>T (p.Glu670Val) | |
17 | g.746046T>C | CA397505914 | GEMIN4 | c.1997A>G (p.Glu666Gly) c.1964A>G (p.Glu655Gly) c.2009A>G (p.Glu670Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.746046T>G | CA397505915 | GEMIN4 | c.1997A>C (p.Glu666Ala) c.1964A>C (p.Glu655Ala) c.2009A>C (p.Glu670Ala) | |
17 | g.746046T= | CA2242474544 | GEMIN4 | c.1997A= (p.Glu666=) c.1964A= (p.Glu655=) c.2009A= (p.Glu670=) | |
17 | g.746048_746050del | CA2242474543 | GEMIN4 | c.1995_1997del (p.Glu666del) c.1962_1964del (p.Glu655del) c.2007_2009del (p.Glu670del) | dbSNP |
17 | g.746047C>A | CA397505916 | GEMIN4 | c.1996G>T (p.Glu666Ter) c.1963G>T (p.Glu655Ter) c.2008G>T (p.Glu670Ter) | |
17 | g.746047C= | CA2242474545 | GEMIN4 | c.1996G= (p.Glu666=) c.1963G= (p.Glu655=) c.2008G= (p.Glu670=) | |
17 | g.746047C>G | CA397505917 | GEMIN4 | c.1996G>C (p.Glu666Gln) c.1963G>C (p.Glu655Gln) c.2008G>C (p.Glu670Gln) | COSMIC COSMIC |
17 | g.746047C>T | CA397505918 | GEMIN4 | c.1996G>A (p.Glu666Lys) c.1963G>A (p.Glu655Lys) c.2008G>A (p.Glu670Lys) | dbSNP |
17 | g.746048T>A | CA397505919 | GEMIN4 | c.1995A>T (p.Glu665Asp) c.1962A>T (p.Glu654Asp) c.2007A>T (p.Glu669Asp) | |
17 | g.746048T>C | CA497384088 | GEMIN4 | c.1995A>G (p.Glu665=) c.1962A>G (p.Glu654=) c.2007A>G (p.Glu669=) | |
17 | g.746048T>G | CA397505920 | GEMIN4 | c.1995A>C (p.Glu665Asp) c.1962A>C (p.Glu654Asp) c.2007A>C (p.Glu669Asp) | dbSNP |
17 | g.746048T= | CA2242474546 | GEMIN4 | c.1995A= (p.Glu665=) c.1962A= (p.Glu654=) c.2007A= (p.Glu669=) | |
17 | g.746049T>A | CA397505923 | GEMIN4 | c.1994A>T (p.Glu665Val) c.1961A>T (p.Glu654Val) c.2006A>T (p.Glu669Val) | |
17 | g.746049T>C | CA397505921 | GEMIN4 | c.1994A>G (p.Glu665Gly) c.1961A>G (p.Glu654Gly) c.2006A>G (p.Glu669Gly) | |
17 | g.746049T>G | CA397505922 | GEMIN4 | c.1994A>C (p.Glu665Ala) c.1961A>C (p.Glu654Ala) c.2006A>C (p.Glu669Ala) | |
17 | g.746050C>A | CA397505924 | GEMIN4 | c.1993G>T (p.Glu665Ter) c.1960G>T (p.Glu654Ter) c.2005G>T (p.Glu669Ter) | |
17 | g.746050C>G | CA397505925 | GEMIN4 | c.1993G>C (p.Glu665Gln) c.1960G>C (p.Glu654Gln) c.2005G>C (p.Glu669Gln) | |
17 | g.746050C>T | CA397505926 | GEMIN4 | c.1993G>A (p.Glu665Lys) c.1960G>A (p.Glu654Lys) c.2005G>A (p.Glu669Lys) | dbSNP |
17 | g.746051A>C | CA497384092 | GEMIN4 | c.1992T>G (p.Val664=) c.1959T>G (p.Val653=) c.2004T>G (p.Val668=) | gnomAD v4 |
17 | g.746051A>G | CA497384093 | GEMIN4 | c.1992T>C (p.Val664=) c.1959T>C (p.Val653=) c.2004T>C (p.Val668=) | |
17 | g.746051A>T | CA497384094 | GEMIN4 | c.1992T>A (p.Val664=) c.1959T>A (p.Val653=) c.2004T>A (p.Val668=) | |
17 | g.746052A>C | CA397505927 | GEMIN4 | c.1991T>G (p.Val664Gly) c.1958T>G (p.Val653Gly) c.2003T>G (p.Val668Gly) | |
17 | g.746052A>G | CA397505928 | GEMIN4 | c.1991T>C (p.Val664Ala) c.1958T>C (p.Val653Ala) c.2003T>C (p.Val668Ala) | |
17 | g.746052A>T | CA397505929 | GEMIN4 | c.1991T>A (p.Val664Asp) c.1958T>A (p.Val653Asp) c.2003T>A (p.Val668Asp) | |
17 | g.746053del | CA2635153309 | GEMIN4 | c.1990del (p.Val664LeufsTer4) c.1957del (p.Val653LeufsTer4) c.2002del (p.Val668LeufsTer4) | gnomAD v4 |
17 | g.746053C>A | CA397505930 | GEMIN4 | c.1990G>T (p.Val664Phe) c.1957G>T (p.Val653Phe) c.2002G>T (p.Val668Phe) | |
17 | g.746053C>G | CA397505931 | GEMIN4 | c.1990G>C (p.Val664Leu) c.1957G>C (p.Val653Leu) c.2002G>C (p.Val668Leu) | |
17 | g.746053C>T | CA397505932 | GEMIN4 | c.1990G>A (p.Val664Ile) c.1957G>A (p.Val653Ile) c.2002G>A (p.Val668Ile) | |
17 | g.746054A= | CA2242474547 | GEMIN4 | c.1989T= (p.Asp663=) c.1956T= (p.Asp652=) c.2001T= (p.Asp667=) | |
17 | g.746054A>C | CA397505933 | GEMIN4 | c.1989T>G (p.Asp663Glu) c.1956T>G (p.Asp652Glu) c.2001T>G (p.Asp667Glu) | |
17 | g.746054A>G | CA497384097 | GEMIN4 | c.1989T>C (p.Asp663=) c.1956T>C (p.Asp652=) c.2001T>C (p.Asp667=) | |
17 | g.746054A>T | CA397505934 | GEMIN4 | c.1989T>A (p.Asp663Glu) c.1956T>A (p.Asp652Glu) c.2001T>A (p.Asp667Glu) | dbSNP |
17 | g.746055T>A | CA397505936 | GEMIN4 | c.1988A>T (p.Asp663Val) c.1955A>T (p.Asp652Val) c.2000A>T (p.Asp667Val) | |
17 | g.746055T>C | CA397505935 | GEMIN4 | c.1988A>G (p.Asp663Gly) c.1955A>G (p.Asp652Gly) c.2000A>G (p.Asp667Gly) | |
17 | g.746055T>G | CA8262510 | GEMIN4 | c.1988A>C (p.Asp663Ala) c.1955A>C (p.Asp652Ala) c.2000A>C (p.Asp667Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746055T= | CA2242474548 | GEMIN4 | c.1988A= (p.Asp663=) c.1955A= (p.Asp652=) c.2000A= (p.Asp667=) | |
17 | g.746056C>A | CA397505937 | GEMIN4 | c.1987G>T (p.Asp663Tyr) c.1954G>T (p.Asp652Tyr) c.1999G>T (p.Asp667Tyr) | |
17 | g.746056C>G | CA397505939 | GEMIN4 | c.1987G>C (p.Asp663His) c.1954G>C (p.Asp652His) c.1999G>C (p.Asp667His) | |
17 | g.746056C>T | CA397505938 | GEMIN4 | c.1987G>A (p.Asp663Asn) c.1954G>A (p.Asp652Asn) c.1999G>A (p.Asp667Asn) | |
17 | g.746057T>A | CA397505940 | GEMIN4 | c.1986A>T (p.Leu662Phe) c.1953A>T (p.Leu651Phe) c.1998A>T (p.Leu666Phe) | |
17 | g.746057T>C | CA497384108 | GEMIN4 | c.1986A>G (p.Leu662=) c.1953A>G (p.Leu651=) c.1998A>G (p.Leu666=) | |
17 | g.746057T>G | CA397505941 | GEMIN4 | c.1986A>C (p.Leu662Phe) c.1953A>C (p.Leu651Phe) c.1998A>C (p.Leu666Phe) | |
17 | g.746058A>C | CA397505942 | GEMIN4 | c.1985T>G (p.Leu662Ter) c.1952T>G (p.Leu651Ter) c.1997T>G (p.Leu666Ter) | |
17 | g.746058A>G | CA397505943 | GEMIN4 | c.1985T>C (p.Leu662Ser) c.1952T>C (p.Leu651Ser) c.1997T>C (p.Leu666Ser) | |
17 | g.746058A>T | CA397505944 | GEMIN4 | c.1985T>A (p.Leu662Ter) c.1952T>A (p.Leu651Ter) c.1997T>A (p.Leu666Ter) | |
17 | g.746059A>C | CA397505945 | GEMIN4 | c.1984T>G (p.Leu662Val) c.1951T>G (p.Leu651Val) c.1996T>G (p.Leu666Val) | |
17 | g.746059A>G | CA497384120 | GEMIN4 | c.1984T>C (p.Leu662=) c.1951T>C (p.Leu651=) c.1996T>C (p.Leu666=) | COSMIC |
17 | g.746059A>T | CA397505946 | GEMIN4 | c.1984T>A (p.Leu662Ile) c.1951T>A (p.Leu651Ile) c.1996T>A (p.Leu666Ile) | |
17 | g.746060C>A | CA397505947 | GEMIN4 | c.1983G>T (p.Arg661Ser) c.1950G>T (p.Arg650Ser) c.1995G>T (p.Arg665Ser) | |
17 | g.746060C>G | CA397505948 | GEMIN4 | c.1983G>C (p.Arg661Ser) c.1950G>C (p.Arg650Ser) c.1995G>C (p.Arg665Ser) | |
17 | g.746060C>T | CA497384124 | GEMIN4 | c.1983G>A (p.Arg661=) c.1950G>A (p.Arg650=) c.1995G>A (p.Arg665=) | |
17 | g.746061C>A | CA397505949 | GEMIN4 | c.1982G>T (p.Arg661Met) c.1949G>T (p.Arg650Met) c.1994G>T (p.Arg665Met) | |
17 | g.746061C= | CA2242474549 | GEMIN4 | c.1982G= (p.Arg661=) c.1949G= (p.Arg650=) c.1994G= (p.Arg665=) | |
17 | g.746061C>G | CA397505950 | GEMIN4 | c.1982G>C (p.Arg661Thr) c.1949G>C (p.Arg650Thr) c.1994G>C (p.Arg665Thr) | |
17 | g.746061C>T | CA8262511 | GEMIN4 | c.1982G>A (p.Arg661Lys) c.1949G>A (p.Arg650Lys) c.1994G>A (p.Arg665Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746062T>A | CA8262512 | GEMIN4 | c.1981A>T (p.Arg661Trp) c.1948A>T (p.Arg650Trp) c.1993A>T (p.Arg665Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746062T>C | CA397505951 | GEMIN4 | c.1981A>G (p.Arg661Gly) c.1948A>G (p.Arg650Gly) c.1993A>G (p.Arg665Gly) | |
17 | g.746062T>G | CA497384130 | GEMIN4 | c.1981A>C (p.Arg661=) c.1948A>C (p.Arg650=) c.1993A>C (p.Arg665=) | |
17 | g.746062T= | CA2242474550 | GEMIN4 | c.1981A= (p.Arg661=) c.1948A= (p.Arg650=) c.1993A= (p.Arg665=) | |
17 | g.746063C>A | CA397505952 | GEMIN4 | c.1980G>T (p.Leu660Phe) c.1947G>T (p.Leu649Phe) c.1992G>T (p.Leu664Phe) | |
17 | g.746063C>G | CA397505953 | GEMIN4 | c.1980G>C (p.Leu660Phe) c.1947G>C (p.Leu649Phe) c.1992G>C (p.Leu664Phe) | |
17 | g.746063C>T | CA497384131 | GEMIN4 | c.1980G>A (p.Leu660=) c.1947G>A (p.Leu649=) c.1992G>A (p.Leu664=) | |
17 | g.746064A>C | CA397505954 | GEMIN4 | c.1979T>G (p.Leu660Trp) c.1946T>G (p.Leu649Trp) c.1991T>G (p.Leu664Trp) | gnomAD v4 COSMIC COSMIC |
17 | g.746064A>G | CA397505955 | GEMIN4 | c.1979T>C (p.Leu660Ser) c.1946T>C (p.Leu649Ser) c.1991T>C (p.Leu664Ser) | |
17 | g.746064A>T | CA397505956 | GEMIN4 | c.1979T>A (p.Leu660Ter) c.1946T>A (p.Leu649Ter) c.1991T>A (p.Leu664Ter) | |
17 | g.746065A>C | CA397505957 | GEMIN4 | c.1978T>G (p.Leu660Val) c.1945T>G (p.Leu649Val) c.1990T>G (p.Leu664Val) | |
17 | g.746065A>G | CA497384136 | GEMIN4 | c.1978T>C (p.Leu660=) c.1945T>C (p.Leu649=) c.1990T>C (p.Leu664=) | |
17 | g.746065A>T | CA397505958 | GEMIN4 | c.1978T>A (p.Leu660Met) c.1945T>A (p.Leu649Met) c.1990T>A (p.Leu664Met) | |
17 | g.746066G>A | CA497384137 | GEMIN4 | c.1977C>T (p.Phe659=) c.1944C>T (p.Phe648=) c.1989C>T (p.Phe663=) | |
17 | g.746066G>C | CA397505959 | GEMIN4 | c.1977C>G (p.Phe659Leu) c.1944C>G (p.Phe648Leu) c.1989C>G (p.Phe663Leu) | |
17 | g.746066G>T | CA397505960 | GEMIN4 | c.1977C>A (p.Phe659Leu) c.1944C>A (p.Phe648Leu) c.1989C>A (p.Phe663Leu) | |
17 | g.746066_746067delinsGA | CA2242474551 | GEMIN4 | c.1976_1977delinsTC (p.Phe659=) c.1943_1944delinsTC (p.Phe648=) c.1988_1989delinsTC (p.Phe663=) |