| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.67717495_67717503del | CA2580101282 | AR | c.*539_*547del (n.*539_*547del) c.2191_2199del (p.Val731_Asp733del) c.818_826del (n.818_826del) c.2173+5806_2173+5814del (n.2173+5806_2173+5814del) c.595_603del (p.Val199_Asp201del) c.1621_1629del (p.Val541_Asp543del) | ClinVar |
| X | g.67717495G>A | CA120709 | AR | c.*539G>A (n.*539G>A) c.2191G>A (p.Val731Met) c.818G>A (n.818G>A) c.2173+5806G>A (n.2173+5806G>A) c.595G>A (p.Val199Met) c.1621G>A (p.Val541Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.67717495G>C | CA413424340 | AR | c.*539G>C (n.*539G>C) c.2191G>C (p.Val731Leu) c.818G>C (n.818G>C) c.2173+5806G>C (n.2173+5806G>C) c.595G>C (p.Val199Leu) c.1621G>C (p.Val541Leu) | dbSNP |
| X | g.67717495G= | CA2435132630 | AR | c.*539G= (n.*539G=) c.2191G= (p.Val731=) c.818G= (n.818G=) c.2173+5806G= (n.2173+5806G=) c.595G= (p.Val199=) c.1621G= (p.Val541=) | |
| X | g.67717495G>T | CA413424342 | AR | c.*539G>T (n.*539G>T) c.2191G>T (p.Val731Leu) c.818G>T (n.818G>T) c.2173+5806G>T (n.2173+5806G>T) c.595G>T (p.Val199Leu) c.1621G>T (p.Val541Leu) | gnomAD v4 |
| X | g.67717496T>A | CA330771841 | AR | c.*540T>A (n.*540T>A) c.2192T>A (p.Val731Glu) c.819T>A (n.819T>A) c.2173+5807T>A (n.2173+5807T>A) c.596T>A (p.Val199Glu) c.1622T>A (p.Val541Glu) | dbSNP gnomAD v4 |
| X | g.67717496T>C | CA413424346 | AR | c.*540T>C (n.*540T>C) c.2192T>C (p.Val731Ala) c.819T>C (n.819T>C) c.2173+5807T>C (n.2173+5807T>C) c.596T>C (p.Val199Ala) c.1622T>C (p.Val541Ala) | |
| X | g.67717496T>G | CA413424348 | AR | c.*540T>G (n.*540T>G) c.2192T>G (p.Val731Gly) c.819T>G (n.819T>G) c.2173+5807T>G (n.2173+5807T>G) c.596T>G (p.Val199Gly) c.1622T>G (p.Val541Gly) | |
| X | g.67717496T= | CA2435132631 | AR | c.*540T= (n.*540T=) c.2192T= (p.Val731=) c.819T= (n.819T=) c.2173+5807T= (n.2173+5807T=) c.596T= (p.Val199=) c.1622T= (p.Val541=) | |
| X | g.67717497G>A | CA516970338 | AR | c.*541G>A (n.*541G>A) c.2193G>A (p.Val731=) c.820G>A (n.820G>A) c.2173+5808G>A (n.2173+5808G>A) c.597G>A (p.Val199=) c.1623G>A (p.Val541=) | dbSNP |
| X | g.67717497G>C | CA516970339 | AR | c.*541G>C (n.*541G>C) c.2193G>C (p.Val731=) c.820G>C (n.820G>C) c.2173+5808G>C (n.2173+5808G>C) c.597G>C (p.Val199=) c.1623G>C (p.Val541=) | dbSNP |
| X | g.67717497G>T | CA516970340 | AR | c.*541G>T (n.*541G>T) c.2193G>T (p.Val731=) c.820G>T (n.820G>T) c.2173+5808G>T (n.2173+5808G>T) c.597G>T (p.Val199=) c.1623G>T (p.Val541=) | |
| X | g.67717498G>A | CA413424355 | AR | c.*542G>A (n.*542G>A) c.2194G>A (p.Asp732Asn) c.821G>A (n.821G>A) c.2173+5809G>A (n.2173+5809G>A) c.598G>A (p.Asp200Asn) c.1624G>A (p.Asp542Asn) | dbSNP |
| X | g.67717498G>C | CA413424351 | AR | c.*542G>C (n.*542G>C) c.2194G>C (p.Asp732His) c.821G>C (n.821G>C) c.2173+5809G>C (n.2173+5809G>C) c.598G>C (p.Asp200His) c.1624G>C (p.Asp542His) | dbSNP |
| X | g.67717498G>T | CA413424353 | AR | c.*542G>T (n.*542G>T) c.2194G>T (p.Asp732Tyr) c.821G>T (n.821G>T) c.2173+5809G>T (n.2173+5809G>T) c.598G>T (p.Asp200Tyr) c.1624G>T (p.Asp542Tyr) | |
| X | g.67717499A= | CA2435132632 | AR | c.*543A= (n.*543A=) c.2195A= (p.Asp732=) c.822A= (n.822A=) c.2173+5810A= (n.2173+5810A=) c.599A= (p.Asp200=) c.1625A= (p.Asp542=) | |
| X | g.67717499A>C | CA413424358 | AR | c.*543A>C (n.*543A>C) c.2195A>C (p.Asp732Ala) c.822A>C (n.822A>C) c.2173+5810A>C (n.2173+5810A>C) c.599A>C (p.Asp200Ala) c.1625A>C (p.Asp542Ala) | dbSNP |
| X | g.67717499A>G | CA413424360 | AR | c.*543A>G (n.*543A>G) c.2195A>G (p.Asp732Gly) c.822A>G (n.822A>G) c.2173+5810A>G (n.2173+5810A>G) c.599A>G (p.Asp200Gly) c.1625A>G (p.Asp542Gly) | dbSNP |
| X | g.67717499A>T | CA413424361 | AR | c.*543A>T (n.*543A>T) c.2195A>T (p.Asp732Val) c.822A>T (n.822A>T) c.2173+5810A>T (n.2173+5810A>T) c.599A>T (p.Asp200Val) c.1625A>T (p.Asp542Val) | dbSNP |
| X | g.67717500C>A | CA413424364 | AR | c.*544C>A (n.*544C>A) c.2196C>A (p.Asp732Glu) c.823C>A (n.823C>A) c.2173+5811C>A (n.2173+5811C>A) c.600C>A (p.Asp200Glu) c.1626C>A (p.Asp542Glu) | dbSNP gnomAD v4 |
| X | g.67717500C= | CA2435132633 | AR | c.*544C= (n.*544C=) c.2196C= (p.Asp732=) c.823C= (n.823C=) c.2173+5811C= (n.2173+5811C=) c.600C= (p.Asp200=) c.1626C= (p.Asp542=) | |
| X | g.67717500C>G | CA413424366 | AR | c.*544C>G (n.*544C>G) c.2196C>G (p.Asp732Glu) c.823C>G (n.823C>G) c.2173+5811C>G (n.2173+5811C>G) c.600C>G (p.Asp200Glu) c.1626C>G (p.Asp542Glu) | dbSNP |
| X | g.67717500C>T | CA10436603 | AR | c.*544C>T (n.*544C>T) c.2196C>T (p.Asp732=) c.823C>T (n.823C>T) c.2173+5811C>T (n.2173+5811C>T) c.600C>T (p.Asp200=) c.1626C>T (p.Asp542=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67717501G>A | CA413424370 | AR | c.*545G>A (n.*545G>A) c.2197G>A (p.Asp733Asn) c.824G>A (n.824G>A) c.2173+5812G>A (n.2173+5812G>A) c.601G>A (p.Asp201Asn) c.1627G>A (p.Asp543Asn) | ClinVar dbSNP COSMIC COSMIC |
| X | g.67717501G>C | CA413424372 | AR | c.*545G>C (n.*545G>C) c.2197G>C (p.Asp733His) c.824G>C (n.824G>C) c.2173+5812G>C (n.2173+5812G>C) c.601G>C (p.Asp201His) c.1627G>C (p.Asp543His) | dbSNP |
| X | g.67717501G>T | CA413424375 | AR | c.*545G>T (n.*545G>T) c.2197G>T (p.Asp733Tyr) c.824G>T (n.824G>T) c.2173+5812G>T (n.2173+5812G>T) c.601G>T (p.Asp201Tyr) c.1627G>T (p.Asp543Tyr) | |
| X | g.67717502A>C | CA413424378 | AR | c.*546A>C (n.*546A>C) c.2198A>C (p.Asp733Ala) c.825A>C (n.825A>C) c.2173+5813A>C (n.2173+5813A>C) c.602A>C (p.Asp201Ala) c.1628A>C (p.Asp543Ala) | |
| X | g.67717502A>G | CA413424380 | AR | c.*546A>G (n.*546A>G) c.2198A>G (p.Asp733Gly) c.825A>G (n.825A>G) c.2173+5813A>G (n.2173+5813A>G) c.602A>G (p.Asp201Gly) c.1628A>G (p.Asp543Gly) | |
| X | g.67717502A>T | CA413424382 | AR | c.*546A>T (n.*546A>T) c.2198A>T (p.Asp733Val) c.825A>T (n.825A>T) c.2173+5813A>T (n.2173+5813A>T) c.602A>T (p.Asp201Val) c.1628A>T (p.Asp543Val) | |
| X | g.67717503C>A | CA413424385 | AR | c.*547C>A (n.*547C>A) c.2199C>A (p.Asp733Glu) c.826C>A (n.826C>A) c.2173+5814C>A (n.2173+5814C>A) c.603C>A (p.Asp201Glu) c.1629C>A (p.Asp543Glu) | |
| X | g.67717503C>G | CA413424387 | AR | c.*547C>G (n.*547C>G) c.2199C>G (p.Asp733Glu) c.826C>G (n.826C>G) c.2173+5814C>G (n.2173+5814C>G) c.603C>G (p.Asp201Glu) c.1629C>G (p.Asp543Glu) | dbSNP COSMIC COSMIC |
| X | g.67717503C>T | CA516970342 | AR | c.*547C>T (n.*547C>T) c.2199C>T (p.Asp733=) c.826C>T (n.826C>T) c.2173+5814C>T (n.2173+5814C>T) c.603C>T (p.Asp201=) c.1629C>T (p.Asp543=) | dbSNP gnomAD v4 COSMIC |
| X | g.67717504C>A | CA413424389 | AR | c.*548C>A (n.*548C>A) c.2200C>A (p.Gln734Lys) c.827C>A (n.827C>A) c.2173+5815C>A (n.2173+5815C>A) c.604C>A (p.Gln202Lys) c.1630C>A (p.Gln544Lys) | dbSNP |
| X | g.67717504C>G | CA413424391 | AR | c.*548C>G (n.*548C>G) c.2200C>G (p.Gln734Glu) c.827C>G (n.827C>G) c.2173+5815C>G (n.2173+5815C>G) c.604C>G (p.Gln202Glu) c.1630C>G (p.Gln544Glu) | dbSNP |
| X | g.67717504C>T | CA413424393 | AR | c.*548C>T (n.*548C>T) c.2200C>T (p.Gln734Ter) c.827C>T (n.827C>T) c.2173+5815C>T (n.2173+5815C>T) c.604C>T (p.Gln202Ter) c.1630C>T (p.Gln544Ter) | dbSNP |
| X | g.67717505A>C | CA413424397 | AR | c.*549A>C (n.*549A>C) c.2201A>C (p.Gln734Pro) c.828A>C (n.828A>C) c.2173+5816A>C (n.2173+5816A>C) c.605A>C (p.Gln202Pro) c.1631A>C (p.Gln544Pro) | |
| X | g.67717505A>G | CA413424399 | AR | c.*549A>G (n.*549A>G) c.2201A>G (p.Gln734Arg) c.828A>G (n.828A>G) c.2173+5816A>G (n.2173+5816A>G) c.605A>G (p.Gln202Arg) c.1631A>G (p.Gln544Arg) | dbSNP gnomAD v4 |
| X | g.67717505A>T | CA413424400 | AR | c.*549A>T (n.*549A>T) c.2201A>T (p.Gln734Leu) c.828A>T (n.828A>T) c.2173+5816A>T (n.2173+5816A>T) c.605A>T (p.Gln202Leu) c.1631A>T (p.Gln544Leu) | dbSNP |
| X | g.67717506G>A | CA516970343 | AR | c.*550G>A (n.*550G>A) c.2202G>A (p.Gln734=) c.829G>A (n.829G>A) c.2173+5817G>A (n.2173+5817G>A) c.606G>A (p.Gln202=) c.1632G>A (p.Gln544=) | dbSNP |
| X | g.67717506G>C | CA413424405 | AR | c.*550G>C (n.*550G>C) c.2202G>C (p.Gln734His) c.829G>C (n.829G>C) c.2173+5817G>C (n.2173+5817G>C) c.606G>C (p.Gln202His) c.1632G>C (p.Gln544His) | dbSNP COSMIC COSMIC |
| X | g.67717506G>T | CA413424403 | AR | c.*550G>T (n.*550G>T) c.2202G>T (p.Gln734His) c.829G>T (n.829G>T) c.2173+5817G>T (n.2173+5817G>T) c.606G>T (p.Gln202His) c.1632G>T (p.Gln544His) | |
| X | g.67717507A>C | CA413424408 | AR | c.*551A>C (n.*551A>C) c.2203A>C (p.Met735Leu) c.830A>C (n.830A>C) c.2173+5818A>C (n.2173+5818A>C) c.607A>C (p.Met203Leu) c.1633A>C (p.Met545Leu) | |
| X | g.67717507A>G | CA413424410 | AR | c.*551A>G (n.*551A>G) c.2203A>G (p.Met735Val) c.830A>G (n.830A>G) c.2173+5818A>G (n.2173+5818A>G) c.607A>G (p.Met203Val) c.1633A>G (p.Met545Val) | |
| X | g.67717507A>T | CA413424412 | AR | c.*551A>T (n.*551A>T) c.2203A>T (p.Met735Leu) c.830A>T (n.830A>T) c.2173+5818A>T (n.2173+5818A>T) c.607A>T (p.Met203Leu) c.1633A>T (p.Met545Leu) | |
| X | g.67717508T>A | CA413424415 | AR | c.*552T>A (n.*552T>A) c.2204T>A (p.Met735Lys) c.831T>A (n.831T>A) c.2173+5819T>A (n.2173+5819T>A) c.608T>A (p.Met203Lys) c.1634T>A (p.Met545Lys) | |
| X | g.67717508T>C | CA330771842 | AR | c.*552T>C (n.*552T>C) c.2204T>C (p.Met735Thr) c.831T>C (n.831T>C) c.2173+5819T>C (n.2173+5819T>C) c.608T>C (p.Met203Thr) c.1634T>C (p.Met545Thr) | dbSNP gnomAD v4 |
| X | g.67717508T>G | CA413424418 | AR | c.*552T>G (n.*552T>G) c.2204T>G (p.Met735Arg) c.831T>G (n.831T>G) c.2173+5819T>G (n.2173+5819T>G) c.608T>G (p.Met203Arg) c.1634T>G (p.Met545Arg) | dbSNP |
| X | g.67717508T= | CA2435132634 | AR | c.*552T= (n.*552T=) c.2204T= (p.Met735=) c.831T= (n.831T=) c.2173+5819T= (n.2173+5819T=) c.608T= (p.Met203=) c.1634T= (p.Met545=) | |
| X | g.67717509G>A | CA413424420 | AR | c.*553G>A (n.*553G>A) c.2205G>A (p.Met735Ile) c.832G>A (n.832G>A) c.2173+5820G>A (n.2173+5820G>A) c.609G>A (p.Met203Ile) c.1635G>A (p.Met545Ile) | dbSNP gnomAD v4 |
| X | g.67717509G>C | CA413424424 | AR | c.*553G>C (n.*553G>C) c.2205G>C (p.Met735Ile) c.832G>C (n.832G>C) c.2173+5820G>C (n.2173+5820G>C) c.609G>C (p.Met203Ile) c.1635G>C (p.Met545Ile) | dbSNP |