| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.745992C>A | CA397505802 | GEMIN4 | c.2051G>T (p.Arg684Leu) c.2063G>T (p.Arg688Leu) c.2018G>T (p.Arg673Leu) | |
| 17 | g.745992C>G | CA397505803 | GEMIN4 | c.2051G>C (p.Arg684Pro) c.2063G>C (p.Arg688Pro) c.2018G>C (p.Arg673Pro) | |
| 17 | g.745992C>T | CA8262497 | GEMIN4 | c.2051G>A (p.Arg684Gln) c.2063G>A (p.Arg688Gln) c.2018G>A (p.Arg673Gln) | dbSNP ExAC gnomAD |
| 17 | g.745993G>A | CA8262498 | GEMIN4 | c.2050C>T (p.Arg684Ter) c.2062C>T (p.Arg688Ter) c.2017C>T (p.Arg673Ter) | dbSNP ExAC gnomAD |
| 17 | g.745993G>C | CA397505804 | GEMIN4 | c.2050C>G (p.Arg684Gly) c.2062C>G (p.Arg688Gly) c.2017C>G (p.Arg673Gly) | |
| 17 | g.745993G>T | CA497383931 | GEMIN4 | c.2050C>A (p.Arg684=) c.2062C>A (p.Arg688=) c.2017C>A (p.Arg673=) | |
| 17 | g.745994G>A | CA497383933 | GEMIN4 | c.2049C>T (p.Cys683=) c.2061C>T (p.Cys687=) c.2016C>T (p.Cys672=) | |
| 17 | g.745994G>C | CA397505805 | GEMIN4 | c.2049C>G (p.Cys683Trp) c.2061C>G (p.Cys687Trp) c.2016C>G (p.Cys672Trp) | |
| 17 | g.745994G>T | CA397505806 | GEMIN4 | c.2049C>A (p.Cys683Ter) c.2061C>A (p.Cys687Ter) c.2016C>A (p.Cys672Ter) | |
| 17 | g.745995C>A | CA397505809 | GEMIN4 | c.2048G>T (p.Cys683Phe) c.2060G>T (p.Cys687Phe) c.2015G>T (p.Cys672Phe) | |
| 17 | g.745995C>G | CA397505807 | GEMIN4 | c.2048G>C (p.Cys683Ser) c.2060G>C (p.Cys687Ser) c.2015G>C (p.Cys672Ser) | |
| 17 | g.745995C>T | CA397505808 | GEMIN4 | c.2048G>A (p.Cys683Tyr) c.2060G>A (p.Cys687Tyr) c.2015G>A (p.Cys672Tyr) | |
| 17 | g.745996A>C | CA397505810 | GEMIN4 | c.2047T>G (p.Cys683Gly) c.2059T>G (p.Cys687Gly) c.2014T>G (p.Cys672Gly) | |
| 17 | g.745996A>G | CA286713669 | GEMIN4 | c.2047T>C (p.Cys683Arg) c.2059T>C (p.Cys687Arg) c.2014T>C (p.Cys672Arg) | dbSNP gnomAD |
| 17 | g.745996A>T | CA397505811 | GEMIN4 | c.2047T>A (p.Cys683Ser) c.2059T>A (p.Cys687Ser) c.2014T>A (p.Cys672Ser) | |
| 17 | g.745997C>A | CA497383938 | GEMIN4 | c.2046G>T (p.Ala682=) c.2058G>T (p.Ala686=) c.2013G>T (p.Ala671=) | |
| 17 | g.745997C>G | CA497383940 | GEMIN4 | c.2046G>C (p.Ala682=) c.2058G>C (p.Ala686=) c.2013G>C (p.Ala671=) | |
| 17 | g.745997C>T | CA497383941 | GEMIN4 | c.2046G>A (p.Ala682=) c.2058G>A (p.Ala686=) c.2013G>A (p.Ala671=) | gnomAD |
| 17 | g.745998G>A | CA286713670 | GEMIN4 | c.2045C>T (p.Ala682Val) c.2057C>T (p.Ala686Val) c.2012C>T (p.Ala671Val) | dbSNP gnomAD |
| 17 | g.745998G>C | CA397505812 | GEMIN4 | c.2045C>G (p.Ala682Gly) c.2057C>G (p.Ala686Gly) c.2012C>G (p.Ala671Gly) | COSMIC COSMIC |
| 17 | g.745998G>T | CA397505813 | GEMIN4 | c.2045C>A (p.Ala682Glu) c.2057C>A (p.Ala686Glu) c.2012C>A (p.Ala671Glu) | |
| 17 | g.745999C>A | CA397505814 | GEMIN4 | c.2044G>T (p.Ala682Ser) c.2056G>T (p.Ala686Ser) c.2011G>T (p.Ala671Ser) | |
| 17 | g.745999C>G | CA397505815 | GEMIN4 | c.2044G>C (p.Ala682Pro) c.2056G>C (p.Ala686Pro) c.2011G>C (p.Ala671Pro) | |
| 17 | g.745999C>T | CA8262499 | GEMIN4 | c.2044G>A (p.Ala682Thr) c.2056G>A (p.Ala686Thr) c.2011G>A (p.Ala671Thr) | dbSNP ExAC gnomAD |
| 17 | g.746000G>A | CA8262500 | GEMIN4 | c.2043C>T (p.Asn681=) c.2055C>T (p.Asn685=) c.2010C>T (p.Asn670=) | dbSNP ExAC gnomAD COSMIC COSMIC |
| 17 | g.746000G>C | CA397505816 | GEMIN4 | c.2043C>G (p.Asn681Lys) c.2055C>G (p.Asn685Lys) c.2010C>G (p.Asn670Lys) | |
| 17 | g.746000G>T | CA397505817 | GEMIN4 | c.2043C>A (p.Asn681Lys) c.2055C>A (p.Asn685Lys) c.2010C>A (p.Asn670Lys) | |
| 17 | g.746001T>A | CA397505820 | GEMIN4 | c.2042A>T (p.Asn681Ile) c.2054A>T (p.Asn685Ile) c.2009A>T (p.Asn670Ile) | |
| 17 | g.746001T>C | CA397505819 | GEMIN4 | c.2042A>G (p.Asn681Ser) c.2054A>G (p.Asn685Ser) c.2009A>G (p.Asn670Ser) | |
| 17 | g.746001T>G | CA397505818 | GEMIN4 | c.2042A>C (p.Asn681Thr) c.2054A>C (p.Asn685Thr) c.2009A>C (p.Asn670Thr) | |
| 17 | g.746002T>A | CA8262501 | GEMIN4 | c.2041A>T (p.Asn681Tyr) c.2053A>T (p.Asn685Tyr) c.2008A>T (p.Asn670Tyr) | dbSNP ExAC gnomAD |
| 17 | g.746002T>C | CA397505822 | GEMIN4 | c.2041A>G (p.Asn681Asp) c.2053A>G (p.Asn685Asp) c.2008A>G (p.Asn670Asp) | |
| 17 | g.746002T>G | CA397505821 | GEMIN4 | c.2041A>C (p.Asn681His) c.2053A>C (p.Asn685His) c.2008A>C (p.Asn670His) | |
| 17 | g.746003T>A | CA497383951 | GEMIN4 | c.2040A>T (p.Ala680=) c.2052A>T (p.Ala684=) c.2007A>T (p.Ala669=) | |
| 17 | g.746003T>C | CA497383952 | GEMIN4 | c.2040A>G (p.Ala680=) c.2052A>G (p.Ala684=) c.2007A>G (p.Ala669=) | |
| 17 | g.746003T>G | CA497383954 | GEMIN4 | c.2040A>C (p.Ala680=) c.2052A>C (p.Ala684=) c.2007A>C (p.Ala669=) | |
| 17 | g.746004G>A | CA397505823 | GEMIN4 | c.2039C>T (p.Ala680Val) c.2051C>T (p.Ala684Val) c.2006C>T (p.Ala669Val) | |
| 17 | g.746004G>C | CA397505824 | GEMIN4 | c.2039C>G (p.Ala680Gly) c.2051C>G (p.Ala684Gly) c.2006C>G (p.Ala669Gly) | |
| 17 | g.746004G>T | CA397505825 | GEMIN4 | c.2039C>A (p.Ala680Glu) c.2051C>A (p.Ala684Glu) c.2006C>A (p.Ala669Glu) | |
| 17 | g.746005C>A | CA397505826 | GEMIN4 | c.2038G>T (p.Ala680Ser) c.2050G>T (p.Ala684Ser) c.2005G>T (p.Ala669Ser) | |
| 17 | g.746005C>G | CA397505827 | GEMIN4 | c.2038G>C (p.Ala680Pro) c.2050G>C (p.Ala684Pro) c.2005G>C (p.Ala669Pro) | |
| 17 | g.746005C>T | CA8262502 | GEMIN4 | c.2038G>A (p.Ala680Thr) c.2050G>A (p.Ala684Thr) c.2005G>A (p.Ala669Thr) | dbSNP ExAC gnomAD |
| 17 | g.746006C>A | CA397505828 | GEMIN4 | c.2037G>T (p.Glu679Asp) c.2049G>T (p.Glu683Asp) c.2004G>T (p.Glu668Asp) | |
| 17 | g.746006C>G | CA397505829 | GEMIN4 | c.2037G>C (p.Glu679Asp) c.2049G>C (p.Glu683Asp) c.2004G>C (p.Glu668Asp) | |
| 17 | g.746006C>T | CA286713671 | GEMIN4 | c.2037G>A (p.Glu679=) c.2049G>A (p.Glu683=) c.2004G>A (p.Glu668=) | dbSNP gnomAD |
| 17 | g.746007T>A | CA397505830 | GEMIN4 | c.2036A>T (p.Glu679Val) c.2048A>T (p.Glu683Val) c.2003A>T (p.Glu668Val) | |
| 17 | g.746007T>C | CA397505831 | GEMIN4 | c.2036A>G (p.Glu679Gly) c.2048A>G (p.Glu683Gly) c.2003A>G (p.Glu668Gly) | |
| 17 | g.746007T>G | CA397505832 | GEMIN4 | c.2036A>C (p.Glu679Ala) c.2048A>C (p.Glu683Ala) c.2003A>C (p.Glu668Ala) | |
| 17 | g.746008C>A | CA397505835 | GEMIN4 | c.2035G>T (p.Glu679Ter) c.2047G>T (p.Glu683Ter) c.2002G>T (p.Glu668Ter) | |
| 17 | g.746008C>G | CA397505834 | GEMIN4 | c.2035G>C (p.Glu679Gln) c.2047G>C (p.Glu683Gln) c.2002G>C (p.Glu668Gln) |