Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.12112930G>A | CA130360 | DHTKD1 | c.2185G>A (p.Gly729Arg) c.688G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.12112930G>C | CA376013404 | DHTKD1 | c.2185G>C (p.Gly729Arg) c.688G>C | |
10 | g.12112930G= | CA1890970518 | DHTKD1 | c.2185G= (p.Gly729=) c.688G= | |
10 | g.12112930G>T | CA376013405 | DHTKD1 | c.2185G>T (p.Gly729Ter) c.688G>T | |
10 | g.12112931G>A | CA376013406 | DHTKD1 | c.2186G>A (p.Gly729Glu) c.689G>A | gnomAD v4 |
10 | g.12112931G>C | CA376013407 | DHTKD1 | c.2186G>C (p.Gly729Ala) c.689G>C | |
10 | g.12112931G>T | CA376013408 | DHTKD1 | c.2186G>T (p.Gly729Val) c.689G>T | |
10 | g.12112932A>C | CA468220171 | DHTKD1 | c.2187A>C (p.Gly729=) c.690A>C | |
10 | g.12112932A>G | CA468220172 | DHTKD1 | c.2187A>G (p.Gly729=) c.690A>G | |
10 | g.12112932A>T | CA468220173 | DHTKD1 | c.2187A>T (p.Gly729=) c.690A>T | |
10 | g.12112933G>A | CA376013409 | DHTKD1 | c.2188G>A (p.Asp730Asn) c.691G>A | |
10 | g.12112933G>C | CA376013410 | DHTKD1 | c.2188G>C (p.Asp730His) c.691G>C | |
10 | g.12112933G>T | CA376013411 | DHTKD1 | c.2188G>T (p.Asp730Tyr) c.691G>T | |
10 | g.12112934A>C | CA376013412 | DHTKD1 | c.2189A>C (p.Asp730Ala) c.692A>C | |
10 | g.12112934A>G | CA376013413 | DHTKD1 | c.2189A>G (p.Asp730Gly) c.692A>G | |
10 | g.12112934A>T | CA376013414 | DHTKD1 | c.2189A>T (p.Asp730Val) c.692A>T | |
10 | g.12112935C>A | CA376013415 | DHTKD1 | c.2190C>A (p.Asp730Glu) c.693C>A | |
10 | g.12112935C>G | CA376013416 | DHTKD1 | c.2190C>G (p.Asp730Glu) c.693C>G | |
10 | g.12112935C>T | CA468220174 | DHTKD1 | c.2190C>T (p.Asp730=) c.693C>T | gnomAD v4 |
10 | g.12112936A= | CA1890970520 | DHTKD1 | c.2191A= (p.Thr731=) c.694A= | |
10 | g.12112936A>C | CA376013417 | DHTKD1 | c.2191A>C (p.Thr731Pro) c.694A>C | |
10 | g.12112936A>G | CA376013419 | DHTKD1 | c.2191A>G (p.Thr731Ala) c.694A>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.12112936A>T | CA376013418 | DHTKD1 | c.2191A>T (p.Thr731Ser) c.694A>T | |
10 | g.12112937C>A | CA376013420 | DHTKD1 | c.2192C>A (p.Thr731Asn) c.695C>A | |
10 | g.12112937C= | CA1890970522 | DHTKD1 | c.2192C= (p.Thr731=) c.695C= | |
10 | g.12112937C>G | CA202559963 | DHTKD1 | c.2192C>G (p.Thr731Ser) c.695C>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.12112937C>T | CA376013421 | DHTKD1 | c.2192C>T (p.Thr731Ile) c.695C>T | |
10 | g.12112938T>A | CA468220175 | DHTKD1 | c.2193T>A (p.Thr731=) c.696T>A | |
10 | g.12112938T>C | CA468220177 | DHTKD1 | c.2193T>C (p.Thr731=) c.696T>C | gnomAD v4 |
10 | g.12112938T>G | CA468220176 | DHTKD1 | c.2193T>G (p.Thr731=) c.696T>G | |
10 | g.12112940_12112941del | CA2608250724 | DHTKD1 | c.2195_2196del (p.Val732GlufsTer18) c.698_699del | gnomAD v4 |
10 | g.12112939G>A | CA376013422 | DHTKD1 | c.2194G>A (p.Val732Met) c.697G>A | ClinVar gnomAD v4 |
10 | g.12112939G>C | CA376013423 | DHTKD1 | c.2194G>C (p.Val732Leu) c.697G>C | gnomAD v4 |
10 | g.12112939G>T | CA376013424 | DHTKD1 | c.2194G>T (p.Val732Leu) c.697G>T | |
10 | g.12112940T>A | CA376013425 | DHTKD1 | c.2195T>A (p.Val732Glu) c.698T>A | |
10 | g.12112940T>C | CA376013426 | DHTKD1 | c.2195T>C (p.Val732Ala) c.698T>C | |
10 | g.12112940T>G | CA376013427 | DHTKD1 | c.2195T>G (p.Val732Gly) c.698T>G | gnomAD v4 |
10 | g.12112941G>A | CA468220178 | DHTKD1 | c.2196G>A (p.Val732=) c.699G>A | |
10 | g.12112941G>C | CA468220179 | DHTKD1 | c.2196G>C (p.Val732=) c.699G>C | |
10 | g.12112941G>T | CA468220180 | DHTKD1 | c.2196G>T (p.Val732=) c.699G>T | |
10 | g.12112942A>C | CA376013428 | DHTKD1 | c.2197A>C (p.Asn733His) c.700A>C | |
10 | g.12112942A>G | CA376013429 | DHTKD1 | c.2197A>G (p.Asn733Asp) c.700A>G | |
10 | g.12112942A>T | CA376013430 | DHTKD1 | c.2197A>T (p.Asn733Tyr) c.700A>T | |
10 | g.12112943A>C | CA376013433 | DHTKD1 | c.2198A>C (p.Asn733Thr) c.701A>C | |
10 | g.12112943A>G | CA376013431 | DHTKD1 | c.2198A>G (p.Asn733Ser) c.701A>G | |
10 | g.12112943A>T | CA376013432 | DHTKD1 | c.2198A>T (p.Asn733Ile) c.701A>T | COSMIC |
10 | g.12112944C>A | CA376013434 | DHTKD1 | c.2199C>A (p.Asn733Lys) c.702C>A | |
10 | g.12112944C>G | CA376013435 | DHTKD1 | c.2199C>G (p.Asn733Lys) c.702C>G | |
10 | g.12112944C>T | CA468220181 | DHTKD1 | c.2199C>T (p.Asn733=) c.702C>T | |
10 | g.12112945A= | CA1890970523 | DHTKD1 | c.2200A= (p.Met734=) c.703A= |