UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.67717487del | CA2739290500 | AR | c.*531del (n.*531del) c.2183del (p.Asn728ThrfsTer?) c.810del (n.810del) c.2173+5798del (n.2173+5798del) c.587del (p.Asn196ThrfsTer?) c.1613del (p.Asn538ThrfsTer?) | |
| X | g.67717487A= | CA2435132627 | AR | c.*531A= (n.*531A=) c.2183A= (p.Asn728=) c.810A= (n.810A=) c.2173+5798A= (n.2173+5798A=) c.587A= (p.Asn196=) c.1613A= (p.Asn538=) | |
| X | g.67717487A>C | CA413424292 | AR | c.*531A>C (n.*531A>C) c.2183A>C (p.Asn728Thr) c.810A>C (n.810A>C) c.2173+5798A>C (n.2173+5798A>C) c.587A>C (p.Asn196Thr) c.1613A>C (p.Asn538Thr) | dbSNP |
| X | g.67717487A>G | CA10436600 | AR | c.*531A>G (n.*531A>G) c.2183A>G (p.Asn728Ser) c.810A>G (n.810A>G) c.2173+5798A>G (n.2173+5798A>G) c.587A>G (p.Asn196Ser) c.1613A>G (p.Asn538Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67717487A>T | CA413424295 | AR | c.*531A>T (n.*531A>T) c.2183A>T (p.Asn728Ile) c.810A>T (n.810A>T) c.2173+5798A>T (n.2173+5798A>T) c.587A>T (p.Asn196Ile) c.1613A>T (p.Asn538Ile) | dbSNP gnomAD v4 |
| X | g.67717488C>A | CA413424299 | AR | c.*532C>A (n.*532C>A) c.2184C>A (p.Asn728Lys) c.811C>A (n.811C>A) c.2173+5799C>A (n.2173+5799C>A) c.588C>A (p.Asn196Lys) c.1614C>A (p.Asn538Lys) | |
| X | g.67717488C= | CA2435132628 | AR | c.*532C= (n.*532C=) c.2184C= (p.Asn728=) c.811C= (n.811C=) c.2173+5799C= (n.2173+5799C=) c.588C= (p.Asn196=) c.1614C= (p.Asn538=) | |
| X | g.67717488C>G | CA10436601 | AR | c.*532C>G (n.*532C>G) c.2184C>G (p.Asn728Lys) c.811C>G (n.811C>G) c.2173+5799C>G (n.2173+5799C>G) c.588C>G (p.Asn196Lys) c.1614C>G (p.Asn538Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67717488C>T | CA516970331 | AR | c.*532C>T (n.*532C>T) c.2184C>T (p.Asn728=) c.811C>T (n.811C>T) c.2173+5799C>T (n.2173+5799C>T) c.588C>T (p.Asn196=) c.1614C>T (p.Asn538=) | |
| X | g.67717489T>A | CA413424304 | AR | c.*533T>A (n.*533T>A) c.2185T>A (p.Leu729Ile) c.812T>A (n.812T>A) c.2173+5800T>A (n.2173+5800T>A) c.589T>A (p.Leu197Ile) c.1615T>A (p.Leu539Ile) | dbSNP COSMIC |
| X | g.67717489T>C | CA516970332 | AR | c.*533T>C (n.*533T>C) c.2185T>C (p.Leu729=) c.812T>C (n.812T>C) c.2173+5800T>C (n.2173+5800T>C) c.589T>C (p.Leu197=) c.1615T>C (p.Leu539=) | dbSNP |
| X | g.67717489T>G | CA413424307 | AR | c.*533T>G (n.*533T>G) c.2185T>G (p.Leu729Val) c.812T>G (n.812T>G) c.2173+5800T>G (n.2173+5800T>G) c.589T>G (p.Leu197Val) c.1615T>G (p.Leu539Val) | |
| X | g.67717490T>A | CA413424309 | AR | c.*534T>A (n.*534T>A) c.2186T>A (p.Leu729Ter) c.813T>A (n.813T>A) c.2173+5801T>A (n.2173+5801T>A) c.590T>A (p.Leu197Ter) c.1616T>A (p.Leu539Ter) | |
| X | g.67717490T>C | CA413424313 | AR | c.*534T>C (n.*534T>C) c.2186T>C (p.Leu729Ser) c.813T>C (n.813T>C) c.2173+5801T>C (n.2173+5801T>C) c.590T>C (p.Leu197Ser) c.1616T>C (p.Leu539Ser) | ClinVar |
| X | g.67717490T>G | CA413424311 | AR | c.*534T>G (n.*534T>G) c.2186T>G (p.Leu729Ter) c.813T>G (n.813T>G) c.2173+5801T>G (n.2173+5801T>G) c.590T>G (p.Leu197Ter) c.1616T>G (p.Leu539Ter) | |
| X | g.67717491del | CA2738703906 | AR | c.*535del (n.*535del) c.2187del (p.Leu729PhefsTer?) c.814del (n.814del) c.2173+5802del (n.2173+5802del) c.591del (p.Leu197PhefsTer?) c.1617del (p.Leu539PhefsTer?) | dbSNP |
| X | g.67717491A>C | CA413424315 | AR | c.*535A>C (n.*535A>C) c.2187A>C (p.Leu729Phe) c.814A>C (n.814A>C) c.2173+5802A>C (n.2173+5802A>C) c.591A>C (p.Leu197Phe) c.1617A>C (p.Leu539Phe) | dbSNP |
| X | g.67717491A>G | CA516970334 | AR | c.*535A>G (n.*535A>G) c.2187A>G (p.Leu729=) c.814A>G (n.814A>G) c.2173+5802A>G (n.2173+5802A>G) c.591A>G (p.Leu197=) c.1617A>G (p.Leu539=) | dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.67717491A>T | CA413424317 | AR | c.*535A>T (n.*535A>T) c.2187A>T (p.Leu729Phe) c.814A>T (n.814A>T) c.2173+5802A>T (n.2173+5802A>T) c.591A>T (p.Leu197Phe) c.1617A>T (p.Leu539Phe) | dbSNP |
| X | g.67717492C>A | CA413424320 | AR | c.*536C>A (n.*536C>A) c.2188C>A (p.His730Asn) c.815C>A (n.815C>A) c.2173+5803C>A (n.2173+5803C>A) c.592C>A (p.His198Asn) c.1618C>A (p.His540Asn) | |
| X | g.67717492C>G | CA413424324 | AR | c.*536C>G (n.*536C>G) c.2188C>G (p.His730Asp) c.815C>G (n.815C>G) c.2173+5803C>G (n.2173+5803C>G) c.592C>G (p.His198Asp) c.1618C>G (p.His540Asp) | dbSNP |
| X | g.67717492C>T | CA413424322 | AR | c.*536C>T (n.*536C>T) c.2188C>T (p.His730Tyr) c.815C>T (n.815C>T) c.2173+5803C>T (n.2173+5803C>T) c.592C>T (p.His198Tyr) c.1618C>T (p.His540Tyr) | dbSNP |
| X | g.67717493A>C | CA413424327 | AR | c.*537A>C (n.*537A>C) c.2189A>C (p.His730Pro) c.816A>C (n.816A>C) c.2173+5804A>C (n.2173+5804A>C) c.593A>C (p.His198Pro) c.1619A>C (p.His540Pro) | gnomAD v4 |
| X | g.67717493A>G | CA413424329 | AR | c.*537A>G (n.*537A>G) c.2189A>G (p.His730Arg) c.816A>G (n.816A>G) c.2173+5804A>G (n.2173+5804A>G) c.593A>G (p.His198Arg) c.1619A>G (p.His540Arg) | |
| X | g.67717493A>T | CA413424331 | AR | c.*537A>T (n.*537A>T) c.2189A>T (p.His730Leu) c.816A>T (n.816A>T) c.2173+5804A>T (n.2173+5804A>T) c.593A>T (p.His198Leu) c.1619A>T (p.His540Leu) | dbSNP |
| 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.67717494C>A | CA413424332 | AR | c.*538C>A (n.*538C>A) c.2190C>A (p.His730Gln) c.817C>A (n.817C>A) c.2173+5805C>A (n.2173+5805C>A) c.594C>A (p.His198Gln) c.1620C>A (p.His540Gln) | gnomAD v4 |
| X | g.67717494C= | CA2435132629 | AR | c.*538C= (n.*538C=) c.2190C= (p.His730=) c.817C= (n.817C=) c.2173+5805C= (n.2173+5805C=) c.594C= (p.His198=) c.1620C= (p.His540=) | |
| X | g.67717494C>G | CA413424334 | AR | c.*538C>G (n.*538C>G) c.2190C>G (p.His730Gln) c.817C>G (n.817C>G) c.2173+5805C>G (n.2173+5805C>G) c.594C>G (p.His198Gln) c.1620C>G (p.His540Gln) | dbSNP |
| X | g.67717494C>T | CA10436602 | AR | c.*538C>T (n.*538C>T) c.2190C>T (p.His730=) c.817C>T (n.817C>T) c.2173+5805C>T (n.2173+5805C>T) c.594C>T (p.His198=) c.1620C>T (p.His540=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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) | ClinVar 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 |
| X | g.67717509G>T | CA413424422 | AR | c.*553G>T (n.*553G>T) c.2205G>T (p.Met735Ile) c.832G>T (n.832G>T) c.2173+5820G>T (n.2173+5820G>T) c.609G>T (p.Met203Ile) c.1635G>T (p.Met545Ile) | |
| X | g.67717510G>A | CA10436604 | AR | c.*554G>A (n.*554G>A) c.2206G>A (p.Ala736Thr) c.833G>A (n.833G>A) c.2173+5821G>A (n.2173+5821G>A) c.610G>A (p.Ala204Thr) c.1636G>A (p.Ala546Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67717510G>C | CA413424428 | AR | c.*554G>C (n.*554G>C) c.2206G>C (p.Ala736Pro) c.833G>C (n.833G>C) c.2173+5821G>C (n.2173+5821G>C) c.610G>C (p.Ala204Pro) c.1636G>C (p.Ala546Pro) | dbSNP COSMIC COSMIC |
| X | g.67717510G= | CA2435132635 | AR | c.*554G= (n.*554G=) c.2206G= (p.Ala736=) c.833G= (n.833G=) c.2173+5821G= (n.2173+5821G=) c.610G= (p.Ala204=) c.1636G= (p.Ala546=) | |
| X | g.67717510G>T | CA413424430 | AR | c.*554G>T (n.*554G>T) c.2206G>T (p.Ala736Ser) c.833G>T (n.833G>T) c.2173+5821G>T (n.2173+5821G>T) c.610G>T (p.Ala204Ser) c.1636G>T (p.Ala546Ser) | dbSNP |
| X | g.67717511C>A | CA413424433 | AR | c.*555C>A (n.*555C>A) c.2207C>A (p.Ala736Asp) c.834C>A (n.834C>A) c.2173+5822C>A (n.2173+5822C>A) c.611C>A (p.Ala204Asp) c.1637C>A (p.Ala546Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.67717511C= | CA2435132636 | AR | c.*555C= (n.*555C=) c.2207C= (p.Ala736=) c.834C= (n.834C=) c.2173+5822C= (n.2173+5822C=) c.611C= (p.Ala204=) c.1637C= (p.Ala546=) | |
| X | g.67717511C>G | CA413424436 | AR | c.*555C>G (n.*555C>G) c.2207C>G (p.Ala736Gly) c.834C>G (n.834C>G) c.2173+5822C>G (n.2173+5822C>G) c.611C>G (p.Ala204Gly) c.1637C>G (p.Ala546Gly) | dbSNP |
| X | g.67717511C>T | CA10436605 | AR | c.*555C>T (n.*555C>T) c.2207C>T (p.Ala736Val) c.834C>T (n.834C>T) c.2173+5822C>T (n.2173+5822C>T) c.611C>T (p.Ala204Val) c.1637C>T (p.Ala546Val) | dbSNP ExAC gnomAD v2 |
| X | g.67717512T>A | CA516970344 | AR | c.*556T>A (n.*556T>A) c.2208T>A (p.Ala736=) c.835T>A (n.835T>A) c.2173+5823T>A (n.2173+5823T>A) c.612T>A (p.Ala204=) c.1638T>A (p.Ala546=) | |
| X | g.67717512T>C | CA516970345 | AR | c.*556T>C (n.*556T>C) c.2208T>C (p.Ala736=) c.835T>C (n.835T>C) c.2173+5823T>C (n.2173+5823T>C) c.612T>C (p.Ala204=) c.1638T>C (p.Ala546=) | dbSNP |
| X | g.67717512T>G | CA516970346 | AR | c.*556T>G (n.*556T>G) c.2208T>G (p.Ala736=) c.835T>G (n.835T>G) c.2173+5823T>G (n.2173+5823T>G) c.612T>G (p.Ala204=) c.1638T>G (p.Ala546=) | |
| X | g.67717513G>A | CA413424440 | AR | c.*557G>A (n.*557G>A) c.2209G>A (p.Val737Ile) c.836G>A (n.836G>A) c.2173+5824G>A (n.2173+5824G>A) c.613G>A (p.Val205Ile) c.1639G>A (p.Val547Ile) | dbSNP |
| X | g.67717513G>C | CA413424442 | AR | c.*557G>C (n.*557G>C) c.2209G>C (p.Val737Leu) c.836G>C (n.836G>C) c.2173+5824G>C (n.2173+5824G>C) c.613G>C (p.Val205Leu) c.1639G>C (p.Val547Leu) | dbSNP |
| X | g.67717513G>T | CA413424444 | AR | c.*557G>T (n.*557G>T) c.2209G>T (p.Val737Phe) c.836G>T (n.836G>T) c.2173+5824G>T (n.2173+5824G>T) c.613G>T (p.Val205Phe) c.1639G>T (p.Val547Phe) | |
| X | g.67717514T>A | CA413424446 | AR | c.*558T>A (n.*558T>A) c.2210T>A (p.Val737Asp) c.837T>A (n.837T>A) c.2173+5825T>A (n.2173+5825T>A) c.614T>A (p.Val205Asp) c.1640T>A (p.Val547Asp) | dbSNP |
| X | g.67717514T>C | CA413424448 | AR | c.*558T>C (n.*558T>C) c.2210T>C (p.Val737Ala) c.837T>C (n.837T>C) c.2173+5825T>C (n.2173+5825T>C) c.614T>C (p.Val205Ala) c.1640T>C (p.Val547Ala) | dbSNP |
| X | g.67717514T>G | CA413424449 | AR | c.*558T>G (n.*558T>G) c.2210T>G (p.Val737Gly) c.837T>G (n.837T>G) c.2173+5825T>G (n.2173+5825T>G) c.614T>G (p.Val205Gly) c.1640T>G (p.Val547Gly) | dbSNP |
| X | g.67717515C>A | CA516970347 | AR | c.*559C>A (n.*559C>A) c.2211C>A (p.Val737=) c.838C>A (n.838C>A) c.2173+5826C>A (n.2173+5826C>A) c.615C>A (p.Val205=) c.1641C>A (p.Val547=) | dbSNP |
| X | g.67717515C= | CA2435132637 | AR | c.*559C= (n.*559C=) c.2211C= (p.Val737=) c.838C= (n.838C=) c.2173+5826C= (n.2173+5826C=) c.615C= (p.Val205=) c.1641C= (p.Val547=) | |
| X | g.67717515C>G | CA516970348 | AR | c.*559C>G (n.*559C>G) c.2211C>G (p.Val737=) c.838C>G (n.838C>G) c.2173+5826C>G (n.2173+5826C>G) c.615C>G (p.Val205=) c.1641C>G (p.Val547=) | dbSNP |
| X | g.67717515C>T | CA10436606 | AR | c.*559C>T (n.*559C>T) c.2211C>T (p.Val737=) c.838C>T (n.838C>T) c.2173+5826C>T (n.2173+5826C>T) c.615C>T (p.Val205=) c.1641C>T (p.Val547=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67717516A>C | CA413424456 | AR | c.*560A>C (n.*560A>C) c.2212A>C (p.Ile738Leu) c.839A>C (n.839A>C) c.2173+5827A>C (n.2173+5827A>C) c.616A>C (p.Ile206Leu) c.1642A>C (p.Ile548Leu) | dbSNP |
| X | g.67717516A>G | CA413424452 | AR | c.*560A>G (n.*560A>G) c.2212A>G (p.Ile738Val) c.839A>G (n.839A>G) c.2173+5827A>G (n.2173+5827A>G) c.616A>G (p.Ile206Val) c.1642A>G (p.Ile548Val) | gnomAD v4 |
| X | g.67717516A>T | CA413424454 | AR | c.*560A>T (n.*560A>T) c.2212A>T (p.Ile738Phe) c.839A>T (n.839A>T) c.2173+5827A>T (n.2173+5827A>T) c.616A>T (p.Ile206Phe) c.1642A>T (p.Ile548Phe) | dbSNP |
| X | g.67717517T>A | CA330771843 | AR | c.*561T>A (n.*561T>A) c.2213T>A (p.Ile738Asn) c.840T>A (n.840T>A) c.2173+5828T>A (n.2173+5828T>A) c.617T>A (p.Ile206Asn) c.1643T>A (p.Ile548Asn) | dbSNP |
| X | g.67717517T>C | CA413424460 | AR | c.*561T>C (n.*561T>C) c.2213T>C (p.Ile738Thr) c.840T>C (n.840T>C) c.2173+5828T>C (n.2173+5828T>C) c.617T>C (p.Ile206Thr) c.1643T>C (p.Ile548Thr) | |
| X | g.67717517T>G | CA413424463 | AR | c.*561T>G (n.*561T>G) c.2213T>G (p.Ile738Ser) c.840T>G (n.840T>G) c.2173+5828T>G (n.2173+5828T>G) c.617T>G (p.Ile206Ser) c.1643T>G (p.Ile548Ser) | |
| X | g.67717517T= | CA2435132638 | AR | c.*561T= (n.*561T=) c.2213T= (p.Ile738=) c.840T= (n.840T=) c.2173+5828T= (n.2173+5828T=) c.617T= (p.Ile206=) c.1643T= (p.Ile548=) | |
| X | g.67717518T>A | CA516970349 | AR | c.*562T>A (n.*562T>A) c.2214T>A (p.Ile738=) c.841T>A (n.841T>A) c.2173+5829T>A (n.2173+5829T>A) c.618T>A (p.Ile206=) c.1644T>A (p.Ile548=) | |
| X | g.67717518T>C | CA516970350 | AR | c.*562T>C (n.*562T>C) c.2214T>C (p.Ile738=) c.841T>C (n.841T>C) c.2173+5829T>C (n.2173+5829T>C) c.618T>C (p.Ile206=) c.1644T>C (p.Ile548=) | |
| X | g.67717518T>G | CA413424465 | AR | c.*562T>G (n.*562T>G) c.2214T>G (p.Ile738Met) c.841T>G (n.841T>G) c.2173+5829T>G (n.2173+5829T>G) c.618T>G (p.Ile206Met) c.1644T>G (p.Ile548Met) | |
| X | g.67717519C>A | CA413424467 | AR | c.*563C>A (n.*563C>A) c.2215C>A (p.Gln739Lys) c.842C>A (n.842C>A) c.2173+5830C>A (n.2173+5830C>A) c.619C>A (p.Gln207Lys) c.1645C>A (p.Gln549Lys) | |
| X | g.67717519C>G | CA413424469 | AR | c.*563C>G (n.*563C>G) c.2215C>G (p.Gln739Glu) c.842C>G (n.842C>G) c.2173+5830C>G (n.2173+5830C>G) c.619C>G (p.Gln207Glu) c.1645C>G (p.Gln549Glu) | dbSNP |
| X | g.67717519C>T | CA413424471 | AR | c.*563C>T (n.*563C>T) c.2215C>T (p.Gln739Ter) c.842C>T (n.842C>T) c.2173+5830C>T (n.2173+5830C>T) c.619C>T (p.Gln207Ter) c.1645C>T (p.Gln549Ter) | dbSNP COSMIC COSMIC COSMIC |
| X | g.67717520A= | CA2435132639 | AR | c.*564A= (n.*564A=) c.2216A= (p.Gln739=) c.843A= (n.843A=) c.2173+5831A= (n.2173+5831A=) c.620A= (p.Gln207=) c.1646A= (p.Gln549=) | |
| X | g.67717520A>C | CA413424474 | AR | c.*564A>C (n.*564A>C) c.2216A>C (p.Gln739Pro) c.843A>C (n.843A>C) c.2173+5831A>C (n.2173+5831A>C) c.620A>C (p.Gln207Pro) c.1646A>C (p.Gln549Pro) | |
| X | g.67717520A>G | CA413424476 | AR | c.*564A>G (n.*564A>G) c.2216A>G (p.Gln739Arg) c.843A>G (n.843A>G) c.2173+5831A>G (n.2173+5831A>G) c.620A>G (p.Gln207Arg) c.1646A>G (p.Gln549Arg) | ClinVar dbSNP |
| X | g.67717520A>T | CA413424478 | AR | c.*564A>T (n.*564A>T) c.2216A>T (p.Gln739Leu) c.843A>T (n.843A>T) c.2173+5831A>T (n.2173+5831A>T) c.620A>T (p.Gln207Leu) c.1646A>T (p.Gln549Leu) | dbSNP |
| X | g.67717521G>A | CA516970351 | AR | c.*565G>A (n.*565G>A) c.2217G>A (p.Gln739=) c.844G>A (n.844G>A) c.2173+5832G>A (n.2173+5832G>A) c.621G>A (p.Gln207=) c.1647G>A (p.Gln549=) | dbSNP |
| X | g.67717521G>C | CA413424480 | AR | c.*565G>C (n.*565G>C) c.2217G>C (p.Gln739His) c.844G>C (n.844G>C) c.2173+5832G>C (n.2173+5832G>C) c.621G>C (p.Gln207His) c.1647G>C (p.Gln549His) | dbSNP |
| X | g.67717521G>T | CA413424482 | AR | c.*565G>T (n.*565G>T) c.2217G>T (p.Gln739His) c.844G>T (n.844G>T) c.2173+5832G>T (n.2173+5832G>T) c.621G>T (p.Gln207His) c.1647G>T (p.Gln549His) | |
| X | g.67717522T>A | CA413424489 | AR | c.*566T>A (n.*566T>A) c.2218T>A (p.Tyr740Asn) c.845T>A (n.845T>A) c.2173+5833T>A (n.2173+5833T>A) c.622T>A (p.Tyr208Asn) c.1648T>A (p.Tyr550Asn) | dbSNP |
| X | g.67717522T>C | CA413424487 | AR | c.*566T>C (n.*566T>C) c.2218T>C (p.Tyr740His) c.845T>C (n.845T>C) c.2173+5833T>C (n.2173+5833T>C) c.622T>C (p.Tyr208His) c.1648T>C (p.Tyr550His) | COSMIC COSMIC COSMIC |
| X | g.67717522T>G | CA413424485 | AR | c.*566T>G (n.*566T>G) c.2218T>G (p.Tyr740Asp) c.845T>G (n.845T>G) c.2173+5833T>G (n.2173+5833T>G) c.622T>G (p.Tyr208Asp) c.1648T>G (p.Tyr550Asp) | dbSNP |
| X | g.67717523A>C | CA413424491 | AR | c.*567A>C (n.*567A>C) c.2219A>C (p.Tyr740Ser) c.846A>C (n.846A>C) c.2173+5834A>C (n.2173+5834A>C) c.623A>C (p.Tyr208Ser) c.1649A>C (p.Tyr550Ser) | dbSNP |
| X | g.67717523A>G | CA413424494 | AR | c.*567A>G (n.*567A>G) c.2219A>G (p.Tyr740Cys) c.846A>G (n.846A>G) c.2173+5834A>G (n.2173+5834A>G) c.623A>G (p.Tyr208Cys) c.1649A>G (p.Tyr550Cys) | COSMIC COSMIC COSMIC |
| X | g.67717523A>T | CA413424495 | AR | c.*567A>T (n.*567A>T) c.2219A>T (p.Tyr740Phe) c.846A>T (n.846A>T) c.2173+5834A>T (n.2173+5834A>T) c.623A>T (p.Tyr208Phe) c.1649A>T (p.Tyr550Phe) | |
| X | g.67717524C>A | CA413424498 | AR | c.*568C>A (n.*568C>A) c.2220C>A (p.Tyr740Ter) c.847C>A (n.847C>A) c.2173+5835C>A (n.2173+5835C>A) c.624C>A (p.Tyr208Ter) c.1650C>A (p.Tyr550Ter) | |
| X | g.67717524C= | CA2435132640 | AR | c.*568C= (n.*568C=) c.2220C= (p.Tyr740=) c.847C= (n.847C=) c.2173+5835C= (n.2173+5835C=) c.624C= (p.Tyr208=) c.1650C= (p.Tyr550=) | |
| X | g.67717524C>G | CA413424500 | AR | c.*568C>G (n.*568C>G) c.2220C>G (p.Tyr740Ter) c.847C>G (n.847C>G) c.2173+5835C>G (n.2173+5835C>G) c.624C>G (p.Tyr208Ter) c.1650C>G (p.Tyr550Ter) | ClinVar dbSNP |
| X | g.67717524C>T | CA516970352 | AR | c.*568C>T (n.*568C>T) c.2220C>T (p.Tyr740=) c.847C>T (n.847C>T) c.2173+5835C>T (n.2173+5835C>T) c.624C>T (p.Tyr208=) c.1650C>T (p.Tyr550=) | dbSNP gnomAD v4 |
| X | g.67717525T>A | CA413424502 | AR | c.*569T>A (n.*569T>A) c.2221T>A (p.Ser741Thr) c.848T>A (n.848T>A) c.2173+5836T>A (n.2173+5836T>A) c.625T>A (p.Ser209Thr) c.1651T>A (p.Ser551Thr) | dbSNP |
| X | g.67717525T>C | CA413424504 | AR | c.*569T>C (n.*569T>C) c.2221T>C (p.Ser741Pro) c.848T>C (n.848T>C) c.2173+5836T>C (n.2173+5836T>C) c.625T>C (p.Ser209Pro) c.1651T>C (p.Ser551Pro) | ClinVar |
| X | g.67717525T>G | CA413424506 | AR | c.*569T>G (n.*569T>G) c.2221T>G (p.Ser741Ala) c.848T>G (n.848T>G) c.2173+5836T>G (n.2173+5836T>G) c.625T>G (p.Ser209Ala) c.1651T>G (p.Ser551Ala) | |
| X | g.67717526C>A | CA413424509 | AR | c.*570C>A (n.*570C>A) c.2222C>A (p.Ser741Tyr) c.849C>A (n.849C>A) c.2173+5837C>A (n.2173+5837C>A) c.626C>A (p.Ser209Tyr) c.1652C>A (p.Ser551Tyr) | dbSNP |
| X | g.67717526C= | CA2435132641 | AR | c.*570C= (n.*570C=) c.2222C= (p.Ser741=) c.849C= (n.849C=) c.2173+5837C= (n.2173+5837C=) c.626C= (p.Ser209=) c.1652C= (p.Ser551=) | |
| X | g.67717526C>G | CA120792 | AR | c.*570C>G (n.*570C>G) c.2222C>G (p.Ser741Cys) c.849C>G (n.849C>G) c.2173+5837C>G (n.2173+5837C>G) c.626C>G (p.Ser209Cys) c.1652C>G (p.Ser551Cys) | ClinVar dbSNP |
| X | g.67717526C>T | CA413424512 | AR | c.*570C>T (n.*570C>T) c.2222C>T (p.Ser741Phe) c.849C>T (n.849C>T) c.2173+5837C>T (n.2173+5837C>T) c.626C>T (p.Ser209Phe) c.1652C>T (p.Ser551Phe) | ClinVar dbSNP COSMIC COSMIC |
| X | g.67717527C>A | CA516970353 | AR | c.*571C>A (n.*571C>A) c.2223C>A (p.Ser741=) c.850C>A (n.850C>A) c.2173+5838C>A (n.2173+5838C>A) c.627C>A (p.Ser209=) c.1653C>A (p.Ser551=) | dbSNP |
| X | g.67717527C>G | CA516970354 | AR | c.*571C>G (n.*571C>G) c.2223C>G (p.Ser741=) c.850C>G (n.850C>G) c.2173+5838C>G (n.2173+5838C>G) c.627C>G (p.Ser209=) c.1653C>G (p.Ser551=) | dbSNP |
| X | g.67717527C>T | CA516970355 | AR | c.*571C>T (n.*571C>T) c.2223C>T (p.Ser741=) c.850C>T (n.850C>T) c.2173+5838C>T (n.2173+5838C>T) c.627C>T (p.Ser209=) c.1653C>T (p.Ser551=) | dbSNP |
| X | g.67717528T>A | CA413424515 | AR | c.*572T>A (n.*572T>A) c.2224T>A (p.Trp742Arg) c.851T>A (n.851T>A) c.2173+5839T>A (n.2173+5839T>A) c.628T>A (p.Trp210Arg) c.1654T>A (p.Trp552Arg) | |
| X | g.67717528T>C | CA413424517 | AR | c.*572T>C (n.*572T>C) c.2224T>C (p.Trp742Arg) c.851T>C (n.851T>C) c.2173+5839T>C (n.2173+5839T>C) c.628T>C (p.Trp210Arg) c.1654T>C (p.Trp552Arg) | |
| X | g.67717528T>G | CA413424519 | AR | c.*572T>G (n.*572T>G) c.2224T>G (p.Trp742Gly) c.851T>G (n.851T>G) c.2173+5839T>G (n.2173+5839T>G) c.628T>G (p.Trp210Gly) c.1654T>G (p.Trp552Gly) | |
| X | g.67717529G>A | CA413424521 | AR | c.*573G>A (n.*573G>A) c.2225G>A (p.Trp742Ter) c.852G>A (n.852G>A) c.2173+5840G>A (n.2173+5840G>A) c.629G>A (p.Trp210Ter) c.1655G>A (p.Trp552Ter) | ClinVar dbSNP COSMIC |
| X | g.67717529G>C | CA413424524 | AR | c.*573G>C (n.*573G>C) c.2225G>C (p.Trp742Ser) c.852G>C (n.852G>C) c.2173+5840G>C (n.2173+5840G>C) c.629G>C (p.Trp210Ser) c.1655G>C (p.Trp552Ser) | ClinVar dbSNP |
| X | g.67717529G= | CA2435132642 | AR | c.*573G= (n.*573G=) c.2225G= (p.Trp742=) c.852G= (n.852G=) c.2173+5840G= (n.2173+5840G=) c.629G= (p.Trp210=) c.1655G= (p.Trp552=) | |
| X | g.67717529G>T | CA413424520 | AR | c.*573G>T (n.*573G>T) c.2225G>T (p.Trp742Leu) c.852G>T (n.852G>T) c.2173+5840G>T (n.2173+5840G>T) c.629G>T (p.Trp210Leu) c.1655G>T (p.Trp552Leu) | ClinVar dbSNP COSMIC |
| X | g.67717530G>A | CA413424527 | AR | c.*574G>A (n.*574G>A) c.2226G>A (p.Trp742Ter) c.853G>A (n.853G>A) c.2173+5841G>A (n.2173+5841G>A) c.630G>A (p.Trp210Ter) c.1656G>A (p.Trp552Ter) | ClinVar dbSNP |
| X | g.67717530G>C | CA413424528 | AR | c.*574G>C (n.*574G>C) c.2226G>C (p.Trp742Cys) c.853G>C (n.853G>C) c.2173+5841G>C (n.2173+5841G>C) c.630G>C (p.Trp210Cys) c.1656G>C (p.Trp552Cys) | dbSNP COSMIC |
| X | g.67717530G>T | CA413424529 | AR | c.*574G>T (n.*574G>T) c.2226G>T (p.Trp742Cys) c.853G>T (n.853G>T) c.2173+5841G>T (n.2173+5841G>T) c.630G>T (p.Trp210Cys) c.1656G>T (p.Trp552Cys) | COSMIC COSMIC COSMIC |
| X | g.67717531A>C | CA413424532 | AR | c.*575A>C (n.*575A>C) c.2227A>C (p.Met743Leu) c.854A>C (n.854A>C) c.2173+5842A>C (n.2173+5842A>C) c.631A>C (p.Met211Leu) c.1657A>C (p.Met553Leu) | |
| X | g.67717531A>G | CA413424534 | AR | c.*575A>G (n.*575A>G) c.2227A>G (p.Met743Val) c.854A>G (n.854A>G) c.2173+5842A>G (n.2173+5842A>G) c.631A>G (p.Met211Val) c.1657A>G (p.Met553Val) | ClinVar dbSNP |
| X | g.67717531A>T | CA413424535 | AR | c.*575A>T (n.*575A>T) c.2227A>T (p.Met743Leu) c.854A>T (n.854A>T) c.2173+5842A>T (n.2173+5842A>T) c.631A>T (p.Met211Leu) c.1657A>T (p.Met553Leu) | dbSNP |
| X | g.67717532T>A | CA413424536 | AR | c.*576T>A (n.*576T>A) c.2228T>A (p.Met743Lys) c.855T>A (n.855T>A) c.2173+5843T>A (n.2173+5843T>A) c.632T>A (p.Met211Lys) c.1658T>A (p.Met553Lys) | ClinVar dbSNP |
| X | g.67717532T>C | CA413424537 | AR | c.*576T>C (n.*576T>C) c.2228T>C (p.Met743Thr) c.855T>C (n.855T>C) c.2173+5843T>C (n.2173+5843T>C) c.632T>C (p.Met211Thr) c.1658T>C (p.Met553Thr) | dbSNP gnomAD v4 |
| X | g.67717532T>G | CA413424538 | AR | c.*576T>G (n.*576T>G) c.2228T>G (p.Met743Arg) c.855T>G (n.855T>G) c.2173+5843T>G (n.2173+5843T>G) c.632T>G (p.Met211Arg) c.1658T>G (p.Met553Arg) | |
| X | g.67717532T= | CA2435132643 | AR | c.*576T= (n.*576T=) c.2228T= (p.Met743=) c.855T= (n.855T=) c.2173+5843T= (n.2173+5843T=) c.632T= (p.Met211=) c.1658T= (p.Met553=) | |
| X | g.67717533G>A | CA413424540 | AR | c.*577G>A (n.*577G>A) c.2229G>A (p.Met743Ile) c.856G>A (n.856G>A) c.2173+5844G>A (n.2173+5844G>A) c.633G>A (p.Met211Ile) c.1659G>A (p.Met553Ile) | dbSNP |
| X | g.67717533G>C | CA413424544 | AR | c.*577G>C (n.*577G>C) c.2229G>C (p.Met743Ile) c.856G>C (n.856G>C) c.2173+5844G>C (n.2173+5844G>C) c.633G>C (p.Met211Ile) c.1659G>C (p.Met553Ile) | |
| X | g.67717533G>T | CA413424545 | AR | c.*577G>T (n.*577G>T) c.2229G>T (p.Met743Ile) c.856G>T (n.856G>T) c.2173+5844G>T (n.2173+5844G>T) c.633G>T (p.Met211Ile) c.1659G>T (p.Met553Ile) | |
| X | g.67717536del | CA645603434 | AR | c.*580del (n.*580del) c.2232del (p.Leu745SerfsTer?) c.859del (n.859del) c.2173+5847del (n.2173+5847del) c.636del (p.Leu213SerfsTer?) c.1662del (p.Leu555SerfsTer?) | COSMIC |
| X | g.67717534G>A | CA413424550 | AR | c.*578G>A (n.*578G>A) c.2230G>A (p.Gly744Arg) c.857G>A (n.857G>A) c.2173+5845G>A (n.2173+5845G>A) c.634G>A (p.Gly212Arg) c.1660G>A (p.Gly554Arg) | dbSNP |
| X | g.67717534G>C | CA413424549 | AR | c.*578G>C (n.*578G>C) c.2230G>C (p.Gly744Arg) c.857G>C (n.857G>C) c.2173+5845G>C (n.2173+5845G>C) c.634G>C (p.Gly212Arg) c.1660G>C (p.Gly554Arg) | dbSNP |
| X | g.67717534G>T | CA413424547 | AR | c.*578G>T (n.*578G>T) c.2230G>T (p.Gly744Trp) c.857G>T (n.857G>T) c.2173+5845G>T (n.2173+5845G>T) c.634G>T (p.Gly212Trp) c.1660G>T (p.Gly554Trp) | |
| X | g.67717535G>A | CA120789 | AR | c.*579G>A (n.*579G>A) c.2231G>A (p.Gly744Glu) c.858G>A (n.858G>A) c.2173+5846G>A (n.2173+5846G>A) c.635G>A (p.Gly212Glu) c.1661G>A (p.Gly554Glu) | ClinVar dbSNP |
| X | g.67717535G>C | CA413424552 | AR | c.*579G>C (n.*579G>C) c.2231G>C (p.Gly744Ala) c.858G>C (n.858G>C) c.2173+5846G>C (n.2173+5846G>C) c.635G>C (p.Gly212Ala) c.1661G>C (p.Gly554Ala) | |
| X | g.67717535G= | CA2435132644 | AR | c.*579G= (n.*579G=) c.2231G= (p.Gly744=) c.858G= (n.858G=) c.2173+5846G= (n.2173+5846G=) c.635G= (p.Gly212=) c.1661G= (p.Gly554=) | |
| X | g.67717535G>T | CA120786 | AR | c.*579G>T (n.*579G>T) c.2231G>T (p.Gly744Val) c.858G>T (n.858G>T) c.2173+5846G>T (n.2173+5846G>T) c.635G>T (p.Gly212Val) c.1661G>T (p.Gly554Val) | ClinVar dbSNP |
| X | g.67717536G>A | CA516970356 | AR | c.*580G>A (n.*580G>A) c.2232G>A (p.Gly744=) c.859G>A (n.859G>A) c.2173+5847G>A (n.2173+5847G>A) c.636G>A (p.Gly212=) c.1662G>A (p.Gly554=) | dbSNP COSMIC COSMIC COSMIC |
| X | g.67717536G>C | CA516970357 | AR | c.*580G>C (n.*580G>C) c.2232G>C (p.Gly744=) c.859G>C (n.859G>C) c.2173+5847G>C (n.2173+5847G>C) c.636G>C (p.Gly212=) c.1662G>C (p.Gly554=) | dbSNP |
| X | g.67717536G= | CA2435132645 | AR | c.*580G= (n.*580G=) c.2232G= (p.Gly744=) c.859G= (n.859G=) c.2173+5847G= (n.2173+5847G=) c.636G= (p.Gly212=) c.1662G= (p.Gly554=) | |
| X | g.67717536G>T | CA516970358 | AR | c.*580G>T (n.*580G>T) c.2232G>T (p.Gly744=) c.859G>T (n.859G>T) c.2173+5847G>T (n.2173+5847G>T) c.636G>T (p.Gly212=) c.1662G>T (p.Gly554=) | ClinVar dbSNP gnomAD v4 |
| X | g.67717537C>A | CA413424556 | AR | c.*581C>A (n.*581C>A) c.2233C>A (p.Leu745Ile) c.860C>A (n.860C>A) c.2173+5848C>A (n.2173+5848C>A) c.637C>A (p.Leu213Ile) c.1663C>A (p.Leu555Ile) | dbSNP |
| X | g.67717537C>G | CA413424559 | AR | c.*581C>G (n.*581C>G) c.2233C>G (p.Leu745Val) c.860C>G (n.860C>G) c.2173+5848C>G (n.2173+5848C>G) c.637C>G (p.Leu213Val) c.1663C>G (p.Leu555Val) | dbSNP |
| X | g.67717537C>T | CA413424561 | AR | c.*581C>T (n.*581C>T) c.2233C>T (p.Leu745Phe) c.860C>T (n.860C>T) c.2173+5848C>T (n.2173+5848C>T) c.637C>T (p.Leu213Phe) c.1663C>T (p.Leu555Phe) | ClinVar dbSNP COSMIC |
| X | g.67717538T>A | CA413424565 | AR | c.*582T>A (n.*582T>A) c.2234T>A (p.Leu745His) c.861T>A (n.861T>A) c.2173+5849T>A (n.2173+5849T>A) c.638T>A (p.Leu213His) c.1664T>A (p.Leu555His) | dbSNP |
| X | g.67717538T>C | CA413424574 | AR | c.*582T>C (n.*582T>C) c.2234T>C (p.Leu745Pro) c.861T>C (n.861T>C) c.2173+5849T>C (n.2173+5849T>C) c.638T>C (p.Leu213Pro) c.1664T>C (p.Leu555Pro) | dbSNP |
| X | g.67717538T>G | CA413424580 | AR | c.*582T>G (n.*582T>G) c.2234T>G (p.Leu745Arg) c.861T>G (n.861T>G) c.2173+5849T>G (n.2173+5849T>G) c.638T>G (p.Leu213Arg) c.1664T>G (p.Leu555Arg) | |
| X | g.67717539C>A | CA516970359 | AR | c.*583C>A (n.*583C>A) c.2235C>A (p.Leu745=) c.862C>A (n.862C>A) c.2173+5850C>A (n.2173+5850C>A) c.639C>A (p.Leu213=) c.1665C>A (p.Leu555=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.67717539C= | CA2435132646 | AR | c.*583C= (n.*583C=) c.2235C= (p.Leu745=) c.862C= (n.862C=) c.2173+5850C= (n.2173+5850C=) c.639C= (p.Leu213=) c.1665C= (p.Leu555=) | |
| X | g.67717539C>G | CA516970360 | AR | c.*583C>G (n.*583C>G) c.2235C>G (p.Leu745=) c.862C>G (n.862C>G) c.2173+5850C>G (n.2173+5850C>G) c.639C>G (p.Leu213=) c.1665C>G (p.Leu555=) | dbSNP |
| X | g.67717539C>T | CA516970361 | AR | c.*583C>T (n.*583C>T) c.2235C>T (p.Leu745=) c.862C>T (n.862C>T) c.2173+5850C>T (n.2173+5850C>T) c.639C>T (p.Leu213=) c.1665C>T (p.Leu555=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.67717540A= | CA2435132647 | AR | c.*584A= (n.*584A=) c.2236A= (p.Met746=) c.863A= (n.863A=) c.2173+5851A= (n.2173+5851A=) c.640A= (p.Met214=) c.1666A= (p.Met556=) | |
| X | g.67717540A>C | CA413424582 | AR | c.*584A>C (n.*584A>C) c.2236A>C (p.Met746Leu) c.863A>C (n.863A>C) c.2173+5851A>C (n.2173+5851A>C) c.640A>C (p.Met214Leu) c.1666A>C (p.Met556Leu) | |
| X | g.67717540A>G | CA413424583 | AR | c.*584A>G (n.*584A>G) c.2236A>G (p.Met746Val) c.863A>G (n.863A>G) c.2173+5851A>G (n.2173+5851A>G) c.640A>G (p.Met214Val) c.1666A>G (p.Met556Val) | dbSNP |
| X | g.67717540A>T | CA413424585 | AR | c.*584A>T (n.*584A>T) c.2236A>T (p.Met746Leu) c.863A>T (n.863A>T) c.2173+5851A>T (n.2173+5851A>T) c.640A>T (p.Met214Leu) c.1666A>T (p.Met556Leu) | ClinVar dbSNP |
| X | g.67717541T>A | CA413424592 | AR | c.*585T>A (n.*585T>A) c.2237T>A (p.Met746Lys) c.864T>A (n.864T>A) c.2173+5852T>A (n.2173+5852T>A) c.641T>A (p.Met214Lys) c.1667T>A (p.Met556Lys) | dbSNP |
| X | g.67717541T>C | CA413424588 | AR | c.*585T>C (n.*585T>C) c.2237T>C (p.Met746Thr) c.864T>C (n.864T>C) c.2173+5852T>C (n.2173+5852T>C) c.641T>C (p.Met214Thr) c.1667T>C (p.Met556Thr) | ClinVar dbSNP |
| X | g.67717541T>G | CA413424590 | AR | c.*585T>G (n.*585T>G) c.2237T>G (p.Met746Arg) c.864T>G (n.864T>G) c.2173+5852T>G (n.2173+5852T>G) c.641T>G (p.Met214Arg) c.1667T>G (p.Met556Arg) | dbSNP |
| X | g.67717542G>A | CA413424594 | AR | c.*586G>A (n.*586G>A) c.2238G>A (p.Met746Ile) c.865G>A (n.865G>A) c.2173+5853G>A (n.2173+5853G>A) c.642G>A (p.Met214Ile) c.1668G>A (p.Met556Ile) | dbSNP |
| X | g.67717542G>C | CA413424596 | AR | c.*586G>C (n.*586G>C) c.2238G>C (p.Met746Ile) c.865G>C (n.865G>C) c.2173+5853G>C (n.2173+5853G>C) c.642G>C (p.Met214Ile) c.1668G>C (p.Met556Ile) | dbSNP |
| X | g.67717542G= | CA2435132648 | AR | c.*586G= (n.*586G=) c.2238G= (p.Met746=) c.865G= (n.865G=) c.2173+5853G= (n.2173+5853G=) c.642G= (p.Met214=) c.1668G= (p.Met556=) | |
| X | g.67717542G>T | CA413424595 | AR | c.*586G>T (n.*586G>T) c.2238G>T (p.Met746Ile) c.865G>T (n.865G>T) c.2173+5853G>T (n.2173+5853G>T) c.642G>T (p.Met214Ile) c.1668G>T (p.Met556Ile) | |
| X | g.67717543G>A | CA413424598 | AR | c.*587G>A (n.*587G>A) c.2239G>A (p.Val747Met) c.866G>A (n.866G>A) c.2173+5854G>A (n.2173+5854G>A) c.643G>A (p.Val215Met) c.1669G>A (p.Val557Met) | ClinVar dbSNP |
| X | g.67717543G>C | CA413424603 | AR | c.*587G>C (n.*587G>C) c.2239G>C (p.Val747Leu) c.866G>C (n.866G>C) c.2173+5854G>C (n.2173+5854G>C) c.643G>C (p.Val215Leu) c.1669G>C (p.Val557Leu) | dbSNP |
| X | g.67717543G= | CA2435132649 | AR | c.*587G= (n.*587G=) c.2239G= (p.Val747=) c.866G= (n.866G=) c.2173+5854G= (n.2173+5854G=) c.643G= (p.Val215=) c.1669G= (p.Val557=) | |
| X | g.67717543G>T | CA413424605 | AR | c.*587G>T (n.*587G>T) c.2239G>T (p.Val747Leu) c.866G>T (n.866G>T) c.2173+5854G>T (n.2173+5854G>T) c.643G>T (p.Val215Leu) c.1669G>T (p.Val557Leu) | |
| X | g.67717544T>A | CA413424607 | AR | c.*588T>A (n.*588T>A) c.2240T>A (p.Val747Glu) c.867T>A (n.867T>A) c.2173+5855T>A (n.2173+5855T>A) c.644T>A (p.Val215Glu) c.1670T>A (p.Val557Glu) | dbSNP |
| X | g.67717544T>C | CA413424609 | AR | c.*588T>C (n.*588T>C) c.2240T>C (p.Val747Ala) c.867T>C (n.867T>C) c.2173+5855T>C (n.2173+5855T>C) c.644T>C (p.Val215Ala) c.1670T>C (p.Val557Ala) | |
| X | g.67717544T>G | CA413424612 | AR | c.*588T>G (n.*588T>G) c.2240T>G (p.Val747Gly) c.867T>G (n.867T>G) c.2173+5855T>G (n.2173+5855T>G) c.644T>G (p.Val215Gly) c.1670T>G (p.Val557Gly) | dbSNP |
| X | g.67717545G>A | CA516970363 | AR | c.*589G>A (n.*589G>A) c.2241G>A (p.Val747=) c.868G>A (n.868G>A) c.2173+5856G>A (n.2173+5856G>A) c.645G>A (p.Val215=) c.1671G>A (p.Val557=) | gnomAD v4 |
| X | g.67717545G>C | CA516970365 | AR | c.*589G>C (n.*589G>C) c.2241G>C (p.Val747=) c.868G>C (n.868G>C) c.2173+5856G>C (n.2173+5856G>C) c.645G>C (p.Val215=) c.1671G>C (p.Val557=) | |
| X | g.67717545G>T | CA516970364 | AR | c.*589G>T (n.*589G>T) c.2241G>T (p.Val747=) c.868G>T (n.868G>T) c.2173+5856G>T (n.2173+5856G>T) c.645G>T (p.Val215=) c.1671G>T (p.Val557=) | |
| X | g.67717546T>A | CA413424614 | AR | c.*590T>A (n.*590T>A) c.2242T>A (p.Phe748Ile) c.869T>A (n.869T>A) c.2173+5857T>A (n.2173+5857T>A) c.646T>A (p.Phe216Ile) c.1672T>A (p.Phe558Ile) | dbSNP |
| X | g.67717546T>C | CA413424617 | AR | c.*590T>C (n.*590T>C) c.2242T>C (p.Phe748Leu) c.869T>C (n.869T>C) c.2173+5857T>C (n.2173+5857T>C) c.646T>C (p.Phe216Leu) c.1672T>C (p.Phe558Leu) | dbSNP |
| X | g.67717546T>G | CA413424619 | AR | c.*590T>G (n.*590T>G) c.2242T>G (p.Phe748Val) c.869T>G (n.869T>G) c.2173+5857T>G (n.2173+5857T>G) c.646T>G (p.Phe216Val) c.1672T>G (p.Phe558Val) | dbSNP |
| X | g.67717548del | CA645603435 | AR | c.*592del (n.*592del) c.2244del (p.Phe748LeufsTer?) c.871del (n.871del) c.2173+5859del (n.2173+5859del) c.648del (p.Phe216LeufsTer?) c.1674del (p.Phe558LeufsTer?) | COSMIC |
| X | g.67717547T>A | CA413424629 | AR | c.*591T>A (n.*591T>A) c.2243T>A (p.Phe748Tyr) c.870T>A (n.870T>A) c.2173+5858T>A (n.2173+5858T>A) c.647T>A (p.Phe216Tyr) c.1673T>A (p.Phe558Tyr) | dbSNP |
| X | g.67717547T>C | CA413424632 | AR | c.*591T>C (n.*591T>C) c.2243T>C (p.Phe748Ser) c.870T>C (n.870T>C) c.2173+5858T>C (n.2173+5858T>C) c.647T>C (p.Phe216Ser) c.1673T>C (p.Phe558Ser) | |
| X | g.67717547T>G | CA413424633 | AR | c.*591T>G (n.*591T>G) c.2243T>G (p.Phe748Cys) c.870T>G (n.870T>G) c.2173+5858T>G (n.2173+5858T>G) c.647T>G (p.Phe216Cys) c.1673T>G (p.Phe558Cys) | dbSNP |
| X | g.67717548T>A | CA413424638 | AR | c.*592T>A (n.*592T>A) c.2244T>A (p.Phe748Leu) c.871T>A (n.871T>A) c.2173+5859T>A (n.2173+5859T>A) c.648T>A (p.Phe216Leu) c.1674T>A (p.Phe558Leu) | |
| X | g.67717548T>C | CA516970366 | AR | c.*592T>C (n.*592T>C) c.2244T>C (p.Phe748=) c.871T>C (n.871T>C) c.2173+5859T>C (n.2173+5859T>C) c.648T>C (p.Phe216=) c.1674T>C (p.Phe558=) | |
| X | g.67717548T>G | CA413424635 | AR | c.*592T>G (n.*592T>G) c.2244T>G (p.Phe748Leu) c.871T>G (n.871T>G) c.2173+5859T>G (n.2173+5859T>G) c.648T>G (p.Phe216Leu) c.1674T>G (p.Phe558Leu) | |
| X | g.67717549G>A | CA413424639 | AR | c.*593G>A (n.*593G>A) c.2245G>A (p.Ala749Thr) c.872G>A (n.872G>A) c.2173+5860G>A (n.2173+5860G>A) c.649G>A (p.Ala217Thr) c.1675G>A (p.Ala559Thr) | COSMIC |
| X | g.67717549G>C | CA413424640 | AR | c.*593G>C (n.*593G>C) c.2245G>C (p.Ala749Pro) c.872G>C (n.872G>C) c.2173+5860G>C (n.2173+5860G>C) c.649G>C (p.Ala217Pro) c.1675G>C (p.Ala559Pro) | |
| X | g.67717549G= | CA2435132650 | AR | c.*593G= (n.*593G=) c.2245G= (p.Ala749=) c.872G= (n.872G=) c.2173+5860G= (n.2173+5860G=) c.649G= (p.Ala217=) c.1675G= (p.Ala559=) | |
| X | g.67717549G>T | CA413424641 | AR | c.*593G>T (n.*593G>T) c.2245G>T (p.Ala749Ser) c.872G>T (n.872G>T) c.2173+5860G>T (n.2173+5860G>T) c.649G>T (p.Ala217Ser) c.1675G>T (p.Ala559Ser) | dbSNP |
| X | g.67717550C>A | CA413424642 | AR | c.*594C>A (n.*594C>A) c.2246C>A (p.Ala749Asp) c.873C>A (n.873C>A) c.2173+5861C>A (n.2173+5861C>A) c.650C>A (p.Ala217Asp) c.1676C>A (p.Ala559Asp) | dbSNP |
| X | g.67717550C>G | CA413424643 | AR | c.*594C>G (n.*594C>G) c.2246C>G (p.Ala749Gly) c.873C>G (n.873C>G) c.2173+5861C>G (n.2173+5861C>G) c.650C>G (p.Ala217Gly) c.1676C>G (p.Ala559Gly) | dbSNP |
| X | g.67717550C>T | CA413424644 | AR | c.*594C>T (n.*594C>T) c.2246C>T (p.Ala749Val) c.873C>T (n.873C>T) c.2173+5861C>T (n.2173+5861C>T) c.650C>T (p.Ala217Val) c.1676C>T (p.Ala559Val) | dbSNP COSMIC |
| X | g.67717551C>A | CA516970367 | AR | c.*595C>A (n.*595C>A) c.2247C>A (p.Ala749=) c.874C>A (n.874C>A) c.2173+5862C>A (n.2173+5862C>A) c.651C>A (p.Ala217=) c.1677C>A (p.Ala559=) | dbSNP |
| X | g.67717551C>G | CA516970369 | AR | c.*595C>G (n.*595C>G) c.2247C>G (p.Ala749=) c.874C>G (n.874C>G) c.2173+5862C>G (n.2173+5862C>G) c.651C>G (p.Ala217=) c.1677C>G (p.Ala559=) | dbSNP |
| X | g.67717551C>T | CA516970368 | AR | c.*595C>T (n.*595C>T) c.2247C>T (p.Ala749=) c.874C>T (n.874C>T) c.2173+5862C>T (n.2173+5862C>T) c.651C>T (p.Ala217=) c.1677C>T (p.Ala559=) | dbSNP COSMIC |
| X | g.67717552A= | CA2435132651 | AR | c.*596A= (n.*596A=) c.2248A= (p.Met750=) c.875A= (n.875A=) c.2173+5863A= (n.2173+5863A=) c.652A= (p.Met218=) c.1678A= (p.Met560=) | |
| X | g.67717552A>C | CA413424645 | AR | c.*596A>C (n.*596A>C) c.2248A>C (p.Met750Leu) c.875A>C (n.875A>C) c.2173+5863A>C (n.2173+5863A>C) c.652A>C (p.Met218Leu) c.1678A>C (p.Met560Leu) | dbSNP |
| X | g.67717552A>G | CA413424646 | AR | c.*596A>G (n.*596A>G) c.2248A>G (p.Met750Val) c.875A>G (n.875A>G) c.2173+5863A>G (n.2173+5863A>G) c.652A>G (p.Met218Val) c.1678A>G (p.Met560Val) | ClinVar dbSNP |
| X | g.67717552A>T | CA413424647 | AR | c.*596A>T (n.*596A>T) c.2248A>T (p.Met750Leu) c.875A>T (n.875A>T) c.2173+5863A>T (n.2173+5863A>T) c.652A>T (p.Met218Leu) c.1678A>T (p.Met560Leu) | dbSNP |
| X | g.67717553T>A | CA413424648 | AR | c.*597T>A (n.*597T>A) c.2249T>A (p.Met750Lys) c.876T>A (n.876T>A) c.2173+5864T>A (n.2173+5864T>A) c.653T>A (p.Met218Lys) c.1679T>A (p.Met560Lys) | |
| X | g.67717553T>C | CA413424649 | AR | c.*597T>C (n.*597T>C) c.2249T>C (p.Met750Thr) c.876T>C (n.876T>C) c.2173+5864T>C (n.2173+5864T>C) c.653T>C (p.Met218Thr) c.1679T>C (p.Met560Thr) | |
| X | g.67717553T>G | CA413424650 | AR | c.*597T>G (n.*597T>G) c.2249T>G (p.Met750Arg) c.876T>G (n.876T>G) c.2173+5864T>G (n.2173+5864T>G) c.653T>G (p.Met218Arg) c.1679T>G (p.Met560Arg) | |
| X | g.67717554G>A | CA413424653 | AR | c.*598G>A (n.*598G>A) c.2250G>A (p.Met750Ile) c.877G>A (n.877G>A) c.2173+5865G>A (n.2173+5865G>A) c.654G>A (p.Met218Ile) c.1680G>A (p.Met560Ile) | dbSNP gnomAD v4 COSMIC |
| X | g.67717554G>C | CA413424652 | AR | c.*598G>C (n.*598G>C) c.2250G>C (p.Met750Ile) c.877G>C (n.877G>C) c.2173+5865G>C (n.2173+5865G>C) c.654G>C (p.Met218Ile) c.1680G>C (p.Met560Ile) | |
| X | g.67717554G>T | CA413424651 | AR | c.*598G>T (n.*598G>T) c.2250G>T (p.Met750Ile) c.877G>T (n.877G>T) c.2173+5865G>T (n.2173+5865G>T) c.654G>T (p.Met218Ile) c.1680G>T (p.Met560Ile) | |
| X | g.67717555G>A | CA413424656 | AR | c.*599G>A (n.*599G>A) c.2251G>A (p.Gly751Ser) c.878G>A (n.878G>A) c.2173+5866G>A (n.2173+5866G>A) c.655G>A (p.Gly219Ser) c.1681G>A (p.Gly561Ser) | COSMIC COSMIC |
| X | g.67717555G>C | CA413424654 | AR | c.*599G>C (n.*599G>C) c.2251G>C (p.Gly751Arg) c.878G>C (n.878G>C) c.2173+5866G>C (n.2173+5866G>C) c.655G>C (p.Gly219Arg) c.1681G>C (p.Gly561Arg) | dbSNP |
| X | g.67717555G= | CA2435132652 | AR | c.*599G= (n.*599G=) c.2251G= (p.Gly751=) c.878G= (n.878G=) c.2173+5866G= (n.2173+5866G=) c.655G= (p.Gly219=) c.1681G= (p.Gly561=) | |
| X | g.67717555G>T | CA413424655 | AR | c.*599G>T (n.*599G>T) c.2251G>T (p.Gly751Cys) c.878G>T (n.878G>T) c.2173+5866G>T (n.2173+5866G>T) c.655G>T (p.Gly219Cys) c.1681G>T (p.Gly561Cys) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.67717556G>A | CA413424657 | AR | c.*600G>A (n.*600G>A) c.2252G>A (p.Gly751Asp) c.879G>A (n.879G>A) c.2173+5867G>A (n.2173+5867G>A) c.656G>A (p.Gly219Asp) c.1682G>A (p.Gly561Asp) | dbSNP COSMIC COSMIC |
| X | g.67717556G>C | CA413424658 | AR | c.*600G>C (n.*600G>C) c.2252G>C (p.Gly751Ala) c.879G>C (n.879G>C) c.2173+5867G>C (n.2173+5867G>C) c.656G>C (p.Gly219Ala) c.1682G>C (p.Gly561Ala) | dbSNP |
| X | g.67717556G>T | CA413424659 | AR | c.*600G>T (n.*600G>T) c.2252G>T (p.Gly751Val) c.879G>T (n.879G>T) c.2173+5867G>T (n.2173+5867G>T) c.656G>T (p.Gly219Val) c.1682G>T (p.Gly561Val) | |
| X | g.67717557C>A | CA516970371 | AR | c.*601C>A (n.*601C>A) c.2253C>A (p.Gly751=) c.880C>A (n.880C>A) c.2173+5868C>A (n.2173+5868C>A) c.657C>A (p.Gly219=) c.1683C>A (p.Gly561=) | |
| X | g.67717557C= | CA2435132653 | AR | c.*601C= (n.*601C=) c.2253C= (p.Gly751=) c.880C= (n.880C=) c.2173+5868C= (n.2173+5868C=) c.657C= (p.Gly219=) c.1683C= (p.Gly561=) | |
| X | g.67717557C>G | CA516970372 | AR | c.*601C>G (n.*601C>G) c.2253C>G (p.Gly751=) c.880C>G (n.880C>G) c.2173+5868C>G (n.2173+5868C>G) c.657C>G (p.Gly219=) c.1683C>G (p.Gly561=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.67717557C>T | CA10436607 | AR | c.*601C>T (n.*601C>T) c.2253C>T (p.Gly751=) c.880C>T (n.880C>T) c.2173+5868C>T (n.2173+5868C>T) c.657C>T (p.Gly219=) c.1683C>T (p.Gly561=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67717558T>A | CA413424660 | AR | c.*602T>A (n.*602T>A) c.2254T>A (p.Trp752Arg) c.881T>A (n.881T>A) c.2173+5869T>A (n.2173+5869T>A) c.658T>A (p.Trp220Arg) c.1684T>A (p.Trp562Arg) | |
| X | g.67717558T>C | CA413424661 | AR | c.*602T>C (n.*602T>C) c.2254T>C (p.Trp752Arg) c.881T>C (n.881T>C) c.2173+5869T>C (n.2173+5869T>C) c.658T>C (p.Trp220Arg) c.1684T>C (p.Trp562Arg) | |
| X | g.67717558T>G | CA413424662 | AR | c.*602T>G (n.*602T>G) c.2254T>G (p.Trp752Gly) c.881T>G (n.881T>G) c.2173+5869T>G (n.2173+5869T>G) c.658T>G (p.Trp220Gly) c.1684T>G (p.Trp562Gly) | |
| X | g.67717559G>A | CA413424663 | AR | c.*603G>A (n.*603G>A) c.2255G>A (p.Trp752Ter) c.882G>A (n.882G>A) c.2173+5870G>A (n.2173+5870G>A) c.659G>A (p.Trp220Ter) c.1685G>A (p.Trp562Ter) | ClinVar dbSNP COSMIC COSMIC |
| X | g.67717559G>C | CA413424664 | AR | c.*603G>C (n.*603G>C) c.2255G>C (p.Trp752Ser) c.882G>C (n.882G>C) c.2173+5870G>C (n.2173+5870G>C) c.659G>C (p.Trp220Ser) c.1685G>C (p.Trp562Ser) | ClinVar dbSNP |
| X | g.67717559G>T | CA413424665 | AR | c.*603G>T (n.*603G>T) c.2255G>T (p.Trp752Leu) c.882G>T (n.882G>T) c.2173+5870G>T (n.2173+5870G>T) c.659G>T (p.Trp220Leu) c.1685G>T (p.Trp562Leu) | dbSNP |
| X | g.67717560G>A | CA413424667 | AR | c.*604G>A (n.*604G>A) c.2256G>A (p.Trp752Ter) c.883G>A (n.883G>A) c.2173+5871G>A (n.2173+5871G>A) c.660G>A (p.Trp220Ter) c.1686G>A (p.Trp562Ter) | ClinVar dbSNP COSMIC |
| X | g.67717560G>C | CA413424668 | AR | c.*604G>C (n.*604G>C) c.2256G>C (p.Trp752Cys) c.883G>C (n.883G>C) c.2173+5871G>C (n.2173+5871G>C) c.660G>C (p.Trp220Cys) c.1686G>C (p.Trp562Cys) | dbSNP COSMIC COSMIC COSMIC |
| X | g.67717560G>T | CA413424666 | AR | c.*604G>T (n.*604G>T) c.2256G>T (p.Trp752Cys) c.883G>T (n.883G>T) c.2173+5871G>T (n.2173+5871G>T) c.660G>T (p.Trp220Cys) c.1686G>T (p.Trp562Cys) | dbSNP |
| X | g.67717561C>A | CA516970373 | AR | c.*605C>A (n.*605C>A) c.2257C>A (p.Arg753=) c.884C>A (n.884C>A) c.2173+5872C>A (n.2173+5872C>A) c.661C>A (p.Arg221=) c.1687C>A (p.Arg563=) | dbSNP |
| X | g.67717561C= | CA2435132654 | AR | c.*605C= (n.*605C=) c.2257C= (p.Arg753=) c.884C= (n.884C=) c.2173+5872C= (n.2173+5872C=) c.661C= (p.Arg221=) c.1687C= (p.Arg563=) | |
| X | g.67717561C>G | CA413424669 | AR | c.*605C>G (n.*605C>G) c.2257C>G (p.Arg753Gly) c.884C>G (n.884C>G) c.2173+5872C>G (n.2173+5872C>G) c.661C>G (p.Arg221Gly) c.1687C>G (p.Arg563Gly) | dbSNP |
| X | g.67717561C>T | CA10588795 | AR | c.*605C>T (n.*605C>T) c.2257C>T (p.Arg753Ter) c.884C>T (n.884C>T) c.2173+5872C>T (n.2173+5872C>T) c.661C>T (p.Arg221Ter) c.1687C>T (p.Arg563Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.67717562G>A | CA413424670 | AR | c.*606G>A (n.*606G>A) c.2258G>A (p.Arg753Gln) c.885G>A (n.885G>A) c.2173+5873G>A (n.2173+5873G>A) c.662G>A (p.Arg221Gln) c.1688G>A (p.Arg563Gln) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| X | g.67717562G>C | CA413424671 | AR | c.*606G>C (n.*606G>C) c.2258G>C (p.Arg753Pro) c.885G>C (n.885G>C) c.2173+5873G>C (n.2173+5873G>C) c.662G>C (p.Arg221Pro) c.1688G>C (p.Arg563Pro) | dbSNP |
| X | g.67717562G= | CA2435132655 | AR | c.*606G= (n.*606G=) c.2258G= (p.Arg753=) c.885G= (n.885G=) c.2173+5873G= (n.2173+5873G=) c.662G= (p.Arg221=) c.1688G= (p.Arg563=) | |
| X | g.67717562G>T | CA16608903 | AR | c.*606G>T (n.*606G>T) c.2258G>T (p.Arg753Leu) c.885G>T (n.885G>T) c.2173+5873G>T (n.2173+5873G>T) c.662G>T (p.Arg221Leu) c.1688G>T (p.Arg563Leu) | ClinVar dbSNP |
| X | g.67717563A>C | CA516970374 | AR | c.*607A>C (n.*607A>C) c.2259A>C (p.Arg753=) c.886A>C (n.886A>C) c.2173+5874A>C (n.2173+5874A>C) c.663A>C (p.Arg221=) c.1689A>C (p.Arg563=) | dbSNP |
| X | g.67717563A>G | CA516970375 | AR | c.*607A>G (n.*607A>G) c.2259A>G (p.Arg753=) c.886A>G (n.886A>G) c.2173+5874A>G (n.2173+5874A>G) c.663A>G (p.Arg221=) c.1689A>G (p.Arg563=) | dbSNP |
| X | g.67717563A>T | CA516970376 | AR | c.*607A>T (n.*607A>T) c.2259A>T (p.Arg753=) c.886A>T (n.886A>T) c.2173+5874A>T (n.2173+5874A>T) c.663A>T (p.Arg221=) c.1689A>T (p.Arg563=) | dbSNP |
| X | g.67717564T>A | CA413424674 | AR | c.*608T>A (n.*608T>A) c.2260T>A (p.Ser754Thr) c.887T>A (n.887T>A) c.2173+5875T>A (n.2173+5875T>A) c.664T>A (p.Ser222Thr) c.1690T>A (p.Ser564Thr) | dbSNP COSMIC COSMIC COSMIC |
| X | g.67717564T>C | CA413424672 | AR | c.*608T>C (n.*608T>C) c.2260T>C (p.Ser754Pro) c.887T>C (n.887T>C) c.2173+5875T>C (n.2173+5875T>C) c.664T>C (p.Ser222Pro) c.1690T>C (p.Ser564Pro) | dbSNP |
| X | g.67717564T>G | CA413424673 | AR | c.*608T>G (n.*608T>G) c.2260T>G (p.Ser754Ala) c.887T>G (n.887T>G) c.2173+5875T>G (n.2173+5875T>G) c.664T>G (p.Ser222Ala) c.1690T>G (p.Ser564Ala) | dbSNP |
| X | g.67717565C>A | CA413424675 | AR | c.*609C>A (n.*609C>A) c.2261C>A (p.Ser754Tyr) c.888C>A (n.888C>A) c.2173+5876C>A (n.2173+5876C>A) c.665C>A (p.Ser222Tyr) c.1691C>A (p.Ser564Tyr) | |
| X | g.67717565C>G | CA413424676 | AR | c.*609C>G (n.*609C>G) c.2261C>G (p.Ser754Cys) c.888C>G (n.888C>G) c.2173+5876C>G (n.2173+5876C>G) c.665C>G (p.Ser222Cys) c.1691C>G (p.Ser564Cys) | dbSNP |
| X | g.67717565C>T | CA413424677 | AR | c.*609C>T (n.*609C>T) c.2261C>T (p.Ser754Phe) c.888C>T (n.888C>T) c.2173+5876C>T (n.2173+5876C>T) c.665C>T (p.Ser222Phe) c.1691C>T (p.Ser564Phe) | dbSNP |
| X | g.67717566C>A | CA516970378 | AR | c.*610C>A (n.*610C>A) c.2262C>A (p.Ser754=) c.889C>A (n.889C>A) c.2173+5877C>A (n.2173+5877C>A) c.666C>A (p.Ser222=) c.1692C>A (p.Ser564=) | dbSNP |
| X | g.67717566C>G | CA516970377 | AR | c.*610C>G (n.*610C>G) c.2262C>G (p.Ser754=) c.889C>G (n.889C>G) c.2173+5877C>G (n.2173+5877C>G) c.666C>G (p.Ser222=) c.1692C>G (p.Ser564=) | dbSNP |
| X | g.67717566C>T | CA516970379 | AR | c.*610C>T (n.*610C>T) c.2262C>T (p.Ser754=) c.889C>T (n.889C>T) c.2173+5877C>T (n.2173+5877C>T) c.666C>T (p.Ser222=) c.1692C>T (p.Ser564=) | gnomAD v4 |
| X | g.67717567T>A | CA413424678 | AR | c.*611T>A (n.*611T>A) c.2263T>A (p.Phe755Ile) c.890T>A (n.890T>A) c.2173+5878T>A (n.2173+5878T>A) c.667T>A (p.Phe223Ile) c.1693T>A (p.Phe565Ile) | dbSNP |
| X | g.67717567T>C | CA413424679 | AR | c.*611T>C (n.*611T>C) c.2263T>C (p.Phe755Leu) c.890T>C (n.890T>C) c.2173+5878T>C (n.2173+5878T>C) c.667T>C (p.Phe223Leu) c.1693T>C (p.Phe565Leu) | dbSNP COSMIC |
| X | g.67717567T>G | CA413424680 | AR | c.*611T>G (n.*611T>G) c.2263T>G (p.Phe755Val) c.890T>G (n.890T>G) c.2173+5878T>G (n.2173+5878T>G) c.667T>G (p.Phe223Val) c.1693T>G (p.Phe565Val) | dbSNP |
| X | g.67717568T>A | CA413424682 | AR | c.*612T>A (n.*612T>A) c.2264T>A (p.Phe755Tyr) c.891T>A (n.891T>A) c.2173+5879T>A (n.2173+5879T>A) c.668T>A (p.Phe223Tyr) c.1694T>A (p.Phe565Tyr) | dbSNP |
| X | g.67717568T>C | CA413424683 | AR | c.*612T>C (n.*612T>C) c.2264T>C (p.Phe755Ser) c.891T>C (n.891T>C) c.2173+5879T>C (n.2173+5879T>C) c.668T>C (p.Phe223Ser) c.1694T>C (p.Phe565Ser) | dbSNP |
| X | g.67717568T>G | CA413424681 | AR | c.*612T>G (n.*612T>G) c.2264T>G (p.Phe755Cys) c.891T>G (n.891T>G) c.2173+5879T>G (n.2173+5879T>G) c.668T>G (p.Phe223Cys) c.1694T>G (p.Phe565Cys) | |
| X | g.67717569C>A | CA413424684 | AR | c.*613C>A (n.*613C>A) c.2265C>A (p.Phe755Leu) c.892C>A (n.892C>A) c.2173+5880C>A (n.2173+5880C>A) c.669C>A (p.Phe223Leu) c.1695C>A (p.Phe565Leu) | |
| X | g.67717569C>G | CA413424685 | AR | c.*613C>G (n.*613C>G) c.2265C>G (p.Phe755Leu) c.892C>G (n.892C>G) c.2173+5880C>G (n.2173+5880C>G) c.669C>G (p.Phe223Leu) c.1695C>G (p.Phe565Leu) | dbSNP |
| X | g.67717569C>T | CA516970380 | AR | c.*613C>T (n.*613C>T) c.2265C>T (p.Phe755=) c.892C>T (n.892C>T) c.2173+5880C>T (n.2173+5880C>T) c.669C>T (p.Phe223=) c.1695C>T (p.Phe565=) | dbSNP COSMIC COSMIC |
| X | g.67717569_67717570delinsCA | CA2435132656 | AR | c.*613_*614delinsCA (n.*613_*614delinsCA) c.2265_2266delinsCA (p.Phe755=) c.892_893delinsCA (n.892_893delinsCA) c.2173+5880_2173+5881delinsCA (n.2173+5880_2173+5881delinsCA) c.669_670delinsCA (p.Phe223=) c.1695_1696delinsCA (p.Phe565=) | |
| X | g.67717570del | CA658684307 | AR | c.*614del (n.*614del) c.2266del (p.Thr756ProfsTer?) c.893del (n.893del) c.2173+5881del (n.2173+5881del) c.670del (p.Thr224ProfsTer?) c.1696del (p.Thr566ProfsTer?) | ClinVar dbSNP |
| X | g.67717570A>C | CA413424686 | AR | c.*614A>C (n.*614A>C) c.2266A>C (p.Thr756Pro) c.893A>C (n.893A>C) c.2173+5881A>C (n.2173+5881A>C) c.670A>C (p.Thr224Pro) c.1696A>C (p.Thr566Pro) | |
| X | g.67717570A>G | CA413424687 | AR | c.*614A>G (n.*614A>G) c.2266A>G (p.Thr756Ala) c.893A>G (n.893A>G) c.2173+5881A>G (n.2173+5881A>G) c.670A>G (p.Thr224Ala) c.1696A>G (p.Thr566Ala) | COSMIC |
| X | g.67717570A>T | CA413424688 | AR | c.*614A>T (n.*614A>T) c.2266A>T (p.Thr756Ser) c.893A>T (n.893A>T) c.2173+5881A>T (n.2173+5881A>T) c.670A>T (p.Thr224Ser) c.1696A>T (p.Thr566Ser) | |
| X | g.67717571C>A | CA413424689 | AR | c.*615C>A (n.*615C>A) c.2267C>A (p.Thr756Asn) c.894C>A (n.894C>A) c.2173+5882C>A (n.2173+5882C>A) c.671C>A (p.Thr224Asn) c.1697C>A (p.Thr566Asn) | dbSNP |
| X | g.67717571C>G | CA413424690 | AR | c.*615C>G (n.*615C>G) c.2267C>G (p.Thr756Ser) c.894C>G (n.894C>G) c.2173+5882C>G (n.2173+5882C>G) c.671C>G (p.Thr224Ser) c.1697C>G (p.Thr566Ser) | dbSNP |
| X | g.67717571C>T | CA413424691 | AR | c.*615C>T (n.*615C>T) c.2267C>T (p.Thr756Ile) c.894C>T (n.894C>T) c.2173+5882C>T (n.2173+5882C>T) c.671C>T (p.Thr224Ile) c.1697C>T (p.Thr566Ile) | |
| X | g.67717572del | CA2740092179 | AR | c.*616del (n.*616del) c.2268del (p.Asn757MetfsTer?) c.895del (n.895del) c.2173+5883del (n.2173+5883del) c.672del (p.Asn225MetfsTer?) c.1698del (p.Asn567MetfsTer?) | ClinVar |
| X | g.67717572C>A | CA516970381 | AR | c.*616C>A (n.*616C>A) c.2268C>A (p.Thr756=) c.895C>A (n.895C>A) c.2173+5883C>A (n.2173+5883C>A) c.672C>A (p.Thr224=) c.1698C>A (p.Thr566=) | dbSNP |
| X | g.67717572C>G | CA516970382 | AR | c.*616C>G (n.*616C>G) c.2268C>G (p.Thr756=) c.895C>G (n.895C>G) c.2173+5883C>G (n.2173+5883C>G) c.672C>G (p.Thr224=) c.1698C>G (p.Thr566=) | dbSNP |
| X | g.67717572C>T | CA516970383 | AR | c.*616C>T (n.*616C>T) c.2268C>T (p.Thr756=) c.895C>T (n.895C>T) c.2173+5883C>T (n.2173+5883C>T) c.672C>T (p.Thr224=) c.1698C>T (p.Thr566=) | dbSNP |
| X | g.67717573A>C | CA413424692 | AR | c.*617A>C (n.*617A>C) c.2269A>C (p.Asn757His) c.896A>C (n.896A>C) c.2173+5884A>C (n.2173+5884A>C) c.673A>C (p.Asn225His) c.1699A>C (p.Asn567His) | |
| X | g.67717573A>G | CA413424693 | AR | c.*617A>G (n.*617A>G) c.2269A>G (p.Asn757Asp) c.896A>G (n.896A>G) c.2173+5884A>G (n.2173+5884A>G) c.673A>G (p.Asn225Asp) c.1699A>G (p.Asn567Asp) | COSMIC |
| X | g.67717573A>T | CA413424694 | AR | c.*617A>T (n.*617A>T) c.2269A>T (p.Asn757Tyr) c.896A>T (n.896A>T) c.2173+5884A>T (n.2173+5884A>T) c.673A>T (p.Asn225Tyr) c.1699A>T (p.Asn567Tyr) | |
| X | g.67717574A= | CA2435132657 | AR | c.*618A= (n.*618A=) c.2270A= (p.Asn757=) c.897A= (n.897A=) c.2173+5885A= (n.2173+5885A=) c.674A= (p.Asn225=) c.1700A= (p.Asn567=) | |
| X | g.67717574A>C | CA413424695 | AR | c.*618A>C (n.*618A>C) c.2270A>C (p.Asn757Thr) c.897A>C (n.897A>C) c.2173+5885A>C (n.2173+5885A>C) c.674A>C (p.Asn225Thr) c.1700A>C (p.Asn567Thr) | |
| X | g.67717574A>G | CA10436608 | AR | c.*618A>G (n.*618A>G) c.2270A>G (p.Asn757Ser) c.897A>G (n.897A>G) c.2173+5885A>G (n.2173+5885A>G) c.674A>G (p.Asn225Ser) c.1700A>G (p.Asn567Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67717574A>T | CA10436609 | AR | c.*618A>T (n.*618A>T) c.2270A>T (p.Asn757Ile) c.897A>T (n.897A>T) c.2173+5885A>T (n.2173+5885A>T) c.674A>T (p.Asn225Ile) c.1700A>T (p.Asn567Ile) | dbSNP ExAC gnomAD v2 |
| X | g.67717575T>A | CA413424697 | AR | c.*619T>A (n.*619T>A) c.2271T>A (p.Asn757Lys) c.898T>A (n.898T>A) c.2173+5886T>A (n.2173+5886T>A) c.675T>A (p.Asn225Lys) c.1701T>A (p.Asn567Lys) | |
| X | g.67717575T>C | CA516970384 | AR | c.*619T>C (n.*619T>C) c.2271T>C (p.Asn757=) c.898T>C (n.898T>C) c.2173+5886T>C (n.2173+5886T>C) c.675T>C (p.Asn225=) c.1701T>C (p.Asn567=) | |
| X | g.67717575T>G | CA413424696 | AR | c.*619T>G (n.*619T>G) c.2271T>G (p.Asn757Lys) c.898T>G (n.898T>G) c.2173+5886T>G (n.2173+5886T>G) c.675T>G (p.Asn225Lys) c.1701T>G (p.Asn567Lys) | |
| X | g.67717576G>A | CA413424698 | AR | c.*620G>A (n.*620G>A) c.2272G>A (p.Val758Ile) c.899G>A (n.899G>A) c.2173+5887G>A (n.2173+5887G>A) c.676G>A (p.Val226Ile) c.1702G>A (p.Val568Ile) | dbSNP COSMIC |
| X | g.67717576G>C | CA413424699 | AR | c.*620G>C (n.*620G>C) c.2272G>C (p.Val758Leu) c.899G>C (n.899G>C) c.2173+5887G>C (n.2173+5887G>C) c.676G>C (p.Val226Leu) c.1702G>C (p.Val568Leu) | dbSNP |
| X | g.67717576G>T | CA413424700 | AR | c.*620G>T (n.*620G>T) c.2272G>T (p.Val758Phe) c.899G>T (n.899G>T) c.2173+5887G>T (n.2173+5887G>T) c.676G>T (p.Val226Phe) c.1702G>T (p.Val568Phe) | |
| X | g.67717577T>A | CA413424701 | AR | c.*621T>A (n.*621T>A) c.2273T>A (p.Val758Asp) c.900T>A (n.900T>A) c.2173+5888T>A (n.2173+5888T>A) c.677T>A (p.Val226Asp) c.1703T>A (p.Val568Asp) | dbSNP |
| X | g.67717577T>C | CA413424702 | AR | c.*621T>C (n.*621T>C) c.2273T>C (p.Val758Ala) c.900T>C (n.900T>C) c.2173+5888T>C (n.2173+5888T>C) c.677T>C (p.Val226Ala) c.1703T>C (p.Val568Ala) | COSMIC |
| X | g.67717577T>G | CA413424703 | AR | c.*621T>G (n.*621T>G) c.2273T>G (p.Val758Gly) c.900T>G (n.900T>G) c.2173+5888T>G (n.2173+5888T>G) c.677T>G (p.Val226Gly) c.1703T>G (p.Val568Gly) | |
| X | g.67717578C>A | CA516970385 | AR | c.*622C>A (n.*622C>A) c.2274C>A (p.Val758=) c.901C>A (n.901C>A) c.2173+5889C>A (n.2173+5889C>A) c.678C>A (p.Val226=) c.1704C>A (p.Val568=) | dbSNP |
| X | g.67717578C>G | CA516970386 | AR | c.*622C>G (n.*622C>G) c.2274C>G (p.Val758=) c.901C>G (n.901C>G) c.2173+5889C>G (n.2173+5889C>G) c.678C>G (p.Val226=) c.1704C>G (p.Val568=) | dbSNP |
| X | g.67717578C>T | CA516970387 | AR | c.*622C>T (n.*622C>T) c.2274C>T (p.Val758=) c.901C>T (n.901C>T) c.2173+5889C>T (n.2173+5889C>T) c.678C>T (p.Val226=) c.1704C>T (p.Val568=) | ClinVar dbSNP gnomAD v4 |
| X | g.67717579A>C | CA413424706 | AR | c.*623A>C (n.*623A>C) c.2275A>C (p.Asn759His) c.902A>C (n.902A>C) c.2173+5890A>C (n.2173+5890A>C) c.679A>C (p.Asn227His) c.1705A>C (p.Asn569His) | |
| X | g.67717579A>G | CA413424704 | AR | c.*623A>G (n.*623A>G) c.2275A>G (p.Asn759Asp) c.902A>G (n.902A>G) c.2173+5890A>G (n.2173+5890A>G) c.679A>G (p.Asn227Asp) c.1705A>G (p.Asn569Asp) | |
| X | g.67717579A>T | CA413424705 | AR | c.*623A>T (n.*623A>T) c.2275A>T (p.Asn759Tyr) c.902A>T (n.902A>T) c.2173+5890A>T (n.2173+5890A>T) c.679A>T (p.Asn227Tyr) c.1705A>T (p.Asn569Tyr) | dbSNP |
| X | g.67717580A>C | CA413424707 | AR | c.*624A>C (n.*624A>C) c.2276A>C (p.Asn759Thr) c.903A>C (n.903A>C) c.2173+5891A>C (n.2173+5891A>C) c.680A>C (p.Asn227Thr) c.1706A>C (p.Asn569Thr) | dbSNP |
| X | g.67717580A>G | CA413424708 | AR | c.*624A>G (n.*624A>G) c.2276A>G (p.Asn759Ser) c.903A>G (n.903A>G) c.2173+5891A>G (n.2173+5891A>G) c.680A>G (p.Asn227Ser) c.1706A>G (p.Asn569Ser) | dbSNP |
| X | g.67717580A>T | CA413424709 | AR | c.*624A>T (n.*624A>T) c.2276A>T (p.Asn759Ile) c.903A>T (n.903A>T) c.2173+5891A>T (n.2173+5891A>T) c.680A>T (p.Asn227Ile) c.1706A>T (p.Asn569Ile) | dbSNP |
| X | g.67717581C>A | CA413424710 | AR | c.*625C>A (n.*625C>A) c.2277C>A (p.Asn759Lys) c.904C>A (n.904C>A) c.2173+5892C>A (n.2173+5892C>A) c.681C>A (p.Asn227Lys) c.1707C>A (p.Asn569Lys) | |
| X | g.67717581C>G | CA413424711 | AR | c.*625C>G (n.*625C>G) c.2277C>G (p.Asn759Lys) c.904C>G (n.904C>G) c.2173+5892C>G (n.2173+5892C>G) c.681C>G (p.Asn227Lys) c.1707C>G (p.Asn569Lys) | dbSNP |
| X | g.67717581C>T | CA516970388 | AR | c.*625C>T (n.*625C>T) c.2277C>T (p.Asn759=) c.904C>T (n.904C>T) c.2173+5892C>T (n.2173+5892C>T) c.681C>T (p.Asn227=) c.1707C>T (p.Asn569=) | |
| X | g.67717582T>A | CA413424712 | AR | c.*626T>A (n.*626T>A) c.2278T>A (p.Ser760Thr) c.905T>A (n.905T>A) c.2173+5893T>A (n.2173+5893T>A) c.682T>A (p.Ser228Thr) c.1708T>A (p.Ser570Thr) | |
| X | g.67717582T>C | CA413424714 | AR | c.*626T>C (n.*626T>C) c.2278T>C (p.Ser760Pro) c.905T>C (n.905T>C) c.2173+5893T>C (n.2173+5893T>C) c.682T>C (p.Ser228Pro) c.1708T>C (p.Ser570Pro) | COSMIC |
| X | g.67717582T>G | CA413424713 | AR | c.*626T>G (n.*626T>G) c.2278T>G (p.Ser760Ala) c.905T>G (n.905T>G) c.2173+5893T>G (n.2173+5893T>G) c.682T>G (p.Ser228Ala) c.1708T>G (p.Ser570Ala) | |
| X | g.67717583C>A | CA413424719 | AR | c.*627C>A (n.*627C>A) c.2279C>A (p.Ser760Tyr) c.906C>A (n.906C>A) c.2173+5894C>A (n.2173+5894C>A) c.683C>A (p.Ser228Tyr) c.1709C>A (p.Ser570Tyr) | ClinVar dbSNP |
| X | g.67717583C>G | CA413424720 | AR | c.*627C>G (n.*627C>G) c.2279C>G (p.Ser760Cys) c.906C>G (n.906C>G) c.2173+5894C>G (n.2173+5894C>G) c.683C>G (p.Ser228Cys) c.1709C>G (p.Ser570Cys) | dbSNP |
| X | g.67717583C>T | CA413424721 | AR | c.*627C>T (n.*627C>T) c.2279C>T (p.Ser760Phe) c.906C>T (n.906C>T) c.2173+5894C>T (n.2173+5894C>T) c.683C>T (p.Ser228Phe) c.1709C>T (p.Ser570Phe) | dbSNP |
| X | g.67717584C>A | CA516970401 | AR | c.*628C>A (n.*628C>A) c.2280C>A (p.Ser760=) c.907C>A (n.907C>A) c.2173+5895C>A (n.2173+5895C>A) c.684C>A (p.Ser228=) c.1710C>A (p.Ser570=) | |
| X | g.67717584C>G | CA516970402 | AR | c.*628C>G (n.*628C>G) c.2280C>G (p.Ser760=) c.907C>G (n.907C>G) c.2173+5895C>G (n.2173+5895C>G) c.684C>G (p.Ser228=) c.1710C>G (p.Ser570=) | dbSNP |
| X | g.67717584C>T | CA516970403 | AR | c.*628C>T (n.*628C>T) c.2280C>T (p.Ser760=) c.907C>T (n.907C>T) c.2173+5895C>T (n.2173+5895C>T) c.684C>T (p.Ser228=) c.1710C>T (p.Ser570=) | dbSNP |
| X | g.67717584_67717591delinsCAGGATGC | CA2435132658 | AR | c.*628_*635delinsCAGGATGC (n.*628_*635delinsCAGGATGC) c.2280_2287delinsCAGGATGC (p.Ser760=) c.907_914delinsCAGGATGC (n.907_914delinsCAGGATGC) c.2173+5895_2173+5902delinsCAGGATGC (n.2173+5895_2173+5902delinsCAGGATGC) c.684_691delinsCAGGATGC (p.Ser228=) c.1710_1717delinsCAGGATGC (p.Ser570=) | |
| X | g.67717585A>C | CA516970404 | AR | c.*629A>C (n.*629A>C) c.2281A>C (p.Arg761=) c.908A>C (n.908A>C) c.2173+5896A>C (n.2173+5896A>C) c.685A>C (p.Arg229=) c.1711A>C (p.Arg571=) | COSMIC COSMIC |
| X | g.67717585A>G | CA413424722 | AR | c.*629A>G (n.*629A>G) c.2281A>G (p.Arg761Gly) c.908A>G (n.908A>G) c.2173+5896A>G (n.2173+5896A>G) c.685A>G (p.Arg229Gly) c.1711A>G (p.Arg571Gly) | dbSNP |
| X | g.67717585A>T | CA413424723 | AR | c.*629A>T (n.*629A>T) c.2281A>T (p.Arg761Trp) c.908A>T (n.908A>T) c.2173+5896A>T (n.2173+5896A>T) c.685A>T (p.Arg229Trp) c.1711A>T (p.Arg571Trp) | dbSNP |
| X | g.67717585_67717591delinsTTCGCCCCTGA | CA358370 | AR | c.*629_*635delinsTTCGCCCCTGA (n.*629_*635delinsTTCGCCCCTGA) c.2281_2287delinsTTCGCCCCTGA (p.Arg761PhefsTer9) c.908_914delinsTTCGCCCCTGA (n.908_914delinsTTCGCCCCTGA) c.2173+5896_2173+5902delinsTTCGCCCCTGA (n.2173+5896_2173+5902delinsTTCGCCCCTGA) c.685_691delinsTTCGCCCCTGA (p.Arg229PhefsTer9) c.1711_1717delinsTTCGCCCCTGA (p.Arg571PhefsTer9) | ClinVar dbSNP |
| X | g.67717586G>A | CA413424724 | AR | c.*630G>A (n.*630G>A) c.2282G>A (p.Arg761Lys) c.909G>A (n.909G>A) c.2173+5897G>A (n.2173+5897G>A) c.686G>A (p.Arg229Lys) c.1712G>A (p.Arg571Lys) | dbSNP gnomAD v4 |
| X | g.67717586G>C | CA413424725 | AR | c.*630G>C (n.*630G>C) c.2282G>C (p.Arg761Thr) c.909G>C (n.909G>C) c.2173+5897G>C (n.2173+5897G>C) c.686G>C (p.Arg229Thr) c.1712G>C (p.Arg571Thr) | dbSNP |
| X | g.67717586G= | CA2435132659 | AR | c.*630G= (n.*630G=) c.2282G= (p.Arg761=) c.909G= (n.909G=) c.2173+5897G= (n.2173+5897G=) c.686G= (p.Arg229=) c.1712G= (p.Arg571=) | |
| X | g.67717586G>T | CA413424726 | AR | c.*630G>T (n.*630G>T) c.2282G>T (p.Arg761Met) c.909G>T (n.909G>T) c.2173+5897G>T (n.2173+5897G>T) c.686G>T (p.Arg229Met) c.1712G>T (p.Arg571Met) | |
| X | g.67717587G>A | CA516970405 | AR | c.*631G>A (n.*631G>A) c.2283G>A (p.Arg761=) c.910G>A (n.910G>A) c.2173+5898G>A (n.2173+5898G>A) c.687G>A (p.Arg229=) c.1713G>A (p.Arg571=) | dbSNP |
| X | g.67717587G>C | CA413424727 | AR | c.*631G>C (n.*631G>C) c.2283G>C (p.Arg761Ser) c.910G>C (n.910G>C) c.2173+5898G>C (n.2173+5898G>C) c.687G>C (p.Arg229Ser) c.1713G>C (p.Arg571Ser) | dbSNP |
| X | g.67717587G= | CA2435132660 | AR | c.*631G= (n.*631G=) c.2283G= (p.Arg761=) c.910G= (n.910G=) c.2173+5898G= (n.2173+5898G=) c.687G= (p.Arg229=) c.1713G= (p.Arg571=) | |
| X | g.67717587G>T | CA413424728 | AR | c.*631G>T (n.*631G>T) c.2283G>T (p.Arg761Ser) c.910G>T (n.910G>T) c.2173+5898G>T (n.2173+5898G>T) c.687G>T (p.Arg229Ser) c.1713G>T (p.Arg571Ser) | ClinVar dbSNP gnomAD v4 |