| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.50192695G>A | CA10414156 | AKAP4 | c.2018C>T (p.Ala673Val) c.1991C>T (p.Ala664Val) n.2130C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50192695G>C | CA10414155 | AKAP4 | c.2018C>G (p.Ala673Gly) c.1991C>G (p.Ala664Gly) n.2130C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50192695G= | CA2428802811 | AKAP4 | c.2018C= (p.Ala673=) c.1991C= (p.Ala664=) n.2130C= | |
| X | g.50192695G>T | CA413188624 | AKAP4 | c.2018C>A (p.Ala673Glu) c.1991C>A (p.Ala664Glu) n.2130C>A | |
| X | g.50192696C>A | CA413188627 | AKAP4 | c.2017G>T (p.Ala673Ser) c.1990G>T (p.Ala664Ser) n.2129G>T | |
| X | g.50192696C>G | CA413188626 | AKAP4 | c.2017G>C (p.Ala673Pro) c.1990G>C (p.Ala664Pro) n.2129G>C | |
| X | g.50192696C>T | CA413188625 | AKAP4 | c.2017G>A (p.Ala673Thr) c.1990G>A (p.Ala664Thr) n.2129G>A | |
| X | g.50192697T>A | CA413188628 | AKAP4 | c.2016A>T (p.Lys672Asn) c.1989A>T (p.Lys663Asn) n.2128A>T | |
| X | g.50192697T>C | CA516679209 | AKAP4 | c.2016A>G (p.Lys672=) c.1989A>G (p.Lys663=) n.2128A>G | |
| X | g.50192697T>G | CA413188629 | AKAP4 | c.2016A>C (p.Lys672Asn) c.1989A>C (p.Lys663Asn) n.2128A>C | |
| X | g.50192698T>A | CA413188630 | AKAP4 | c.2015A>T (p.Lys672Ile) c.1988A>T (p.Lys663Ile) n.2127A>T | |
| X | g.50192698T>C | CA413188631 | AKAP4 | c.2015A>G (p.Lys672Arg) c.1988A>G (p.Lys663Arg) n.2127A>G | |
| X | g.50192698T>G | CA413188632 | AKAP4 | c.2015A>C (p.Lys672Thr) c.1988A>C (p.Lys663Thr) n.2127A>C | |
| X | g.50192699T>A | CA413188633 | AKAP4 | c.2014A>T (p.Lys672Ter) c.1987A>T (p.Lys663Ter) n.2126A>T | |
| X | g.50192699T>C | CA413188634 | AKAP4 | c.2014A>G (p.Lys672Glu) c.1987A>G (p.Lys663Glu) n.2126A>G | |
| X | g.50192699T>G | CA413188635 | AKAP4 | c.2014A>C (p.Lys672Gln) c.1987A>C (p.Lys663Gln) n.2126A>C | |
| X | g.50192700G>A | CA516679211 | AKAP4 | c.2013C>T (p.Asp671=) c.1986C>T (p.Asp662=) n.2125C>T | |
| X | g.50192700G>C | CA413188636 | AKAP4 | c.2013C>G (p.Asp671Glu) c.1986C>G (p.Asp662Glu) n.2125C>G | |
| X | g.50192700G>T | CA413188637 | AKAP4 | c.2013C>A (p.Asp671Glu) c.1986C>A (p.Asp662Glu) n.2125C>A | |
| X | g.50192701T>A | CA413188638 | AKAP4 | c.2012A>T (p.Asp671Val) c.1985A>T (p.Asp662Val) n.2124A>T | |
| X | g.50192701T>C | CA413188639 | AKAP4 | c.2012A>G (p.Asp671Gly) c.1985A>G (p.Asp662Gly) n.2124A>G | |
| X | g.50192701T>G | CA413188640 | AKAP4 | c.2012A>C (p.Asp671Ala) c.1985A>C (p.Asp662Ala) n.2124A>C | |
| X | g.50192702C>A | CA413188643 | AKAP4 | c.2011G>T (p.Asp671Tyr) c.1984G>T (p.Asp662Tyr) n.2123G>T | |
| X | g.50192702C>G | CA413188641 | AKAP4 | c.2011G>C (p.Asp671His) c.1984G>C (p.Asp662His) n.2123G>C | |
| X | g.50192702C>T | CA413188642 | AKAP4 | c.2011G>A (p.Asp671Asn) c.1984G>A (p.Asp662Asn) n.2123G>A | |
| X | g.50192703A= | CA2428802812 | AKAP4 | c.2010T= (p.Ser670=) c.1983T= (p.Ser661=) n.2122T= | |
| X | g.50192703A>C | CA516679220 | AKAP4 | c.2010T>G (p.Ser670=) c.1983T>G (p.Ser661=) n.2122T>G | |
| X | g.50192703A>G | CA10414157 | AKAP4 | c.2010T>C (p.Ser670=) c.1983T>C (p.Ser661=) n.2122T>C | dbSNP ExAC gnomAD v2 |
| X | g.50192703A>T | CA516679223 | AKAP4 | c.2010T>A (p.Ser670=) c.1983T>A (p.Ser661=) n.2122T>A | |
| X | g.50192704G>A | CA413188644 | AKAP4 | c.2009C>T (p.Ser670Phe) c.1982C>T (p.Ser661Phe) n.2121C>T | |
| X | g.50192704G>C | CA413188645 | AKAP4 | c.2009C>G (p.Ser670Cys) c.1982C>G (p.Ser661Cys) n.2121C>G | |
| X | g.50192704G>T | CA413188646 | AKAP4 | c.2009C>A (p.Ser670Tyr) c.1982C>A (p.Ser661Tyr) n.2121C>A | |
| X | g.50192705A= | CA2428802813 | AKAP4 | c.2008T= (p.Ser670=) c.1981T= (p.Ser661=) n.2120T= | |
| X | g.50192705A>C | CA413188648 | AKAP4 | c.2008T>G (p.Ser670Ala) c.1981T>G (p.Ser661Ala) n.2120T>G | |
| X | g.50192705A>G | CA413188650 | AKAP4 | c.2008T>C (p.Ser670Pro) c.1981T>C (p.Ser661Pro) n.2120T>C | dbSNP |
| X | g.50192705A>T | CA413188651 | AKAP4 | c.2008T>A (p.Ser670Thr) c.1981T>A (p.Ser661Thr) n.2120T>A | gnomAD v4 |
| X | g.50192706T>A | CA413188653 | AKAP4 | c.2007A>T (p.Arg669Ser) c.1980A>T (p.Arg660Ser) n.2119A>T | |
| X | g.50192706T>C | CA516679233 | AKAP4 | c.2007A>G (p.Arg669=) c.1980A>G (p.Arg660=) n.2119A>G | |
| X | g.50192706T>G | CA413188655 | AKAP4 | c.2007A>C (p.Arg669Ser) c.1980A>C (p.Arg660Ser) n.2119A>C | |
| X | g.50192707C>A | CA413188658 | AKAP4 | c.2006G>T (p.Arg669Ile) c.1979G>T (p.Arg660Ile) n.2118G>T | |
| X | g.50192707C>G | CA413188659 | AKAP4 | c.2006G>C (p.Arg669Thr) c.1979G>C (p.Arg660Thr) n.2118G>C | gnomAD v4 |
| X | g.50192707C>T | CA413188660 | AKAP4 | c.2006G>A (p.Arg669Lys) c.1979G>A (p.Arg660Lys) n.2118G>A | |
| X | g.50192708T>A | CA413188663 | AKAP4 | c.2005A>T (p.Arg669Ter) c.1978A>T (p.Arg660Ter) n.2117A>T | |
| X | g.50192708T>C | CA413188665 | AKAP4 | c.2005A>G (p.Arg669Gly) c.1978A>G (p.Arg660Gly) n.2117A>G | |
| X | g.50192708T>G | CA516679240 | AKAP4 | c.2005A>C (p.Arg669=) c.1978A>C (p.Arg660=) n.2117A>C | |
| X | g.50192709G>A | CA516679241 | AKAP4 | c.2004C>T (p.Asn668=) c.1977C>T (p.Asn659=) n.2116C>T | |
| X | g.50192709G>C | CA10414158 | AKAP4 | c.2004C>G (p.Asn668Lys) c.1977C>G (p.Asn659Lys) n.2116C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50192709G= | CA2428802814 | AKAP4 | c.2004C= (p.Asn668=) c.1977C= (p.Asn659=) n.2116C= | |
| X | g.50192709G>T | CA413188667 | AKAP4 | c.2004C>A (p.Asn668Lys) c.1977C>A (p.Asn659Lys) n.2116C>A | gnomAD v4 |
| X | g.50192710T>A | CA413188669 | AKAP4 | c.2003A>T (p.Asn668Ile) c.1976A>T (p.Asn659Ile) n.2115A>T |