| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7669589_7676614del | CA2499224945 | TP53 | c.-19_*21del c.-21-1377_*21del c.-19_*310del c.-19_*222del c.-253_*21del c.-136_*222del c.-136_*21del c.-136_*310del c.-136_983+1021del | ClinVar |
| 17 | g.7669609_7676594del | CA2581463470 | TP53 | c.1_1182del c.-21-1358_786del c.1_903del c.1_1161del c.1_994-3365del c.1_782+4572del c.1_*289del c.1_*201del c.-234_1065del c.-117_*201del c.1_1149del c.-117_1065del c.-117_*289del c.-117_983+1000del | |
| 17 | g.7673536_7673594dup | CA2499224956 | TP53 | c.934_992dup (p.Ile332ProfsTer33) c.538_596dup (p.Ile200ProfsTer33) c.655_713dup (p.Ile239ProfsTer33) c.913_971dup (p.Ile325ProfsTer33) c.934_992dup (p.Lys332ProfsTer40) c.782+587_782+645dup (n.782+587_782+645dup) c.934_992dup (p.Asp332ProfsTer39) c.934_992dup (p.Met332ProfsTer31) c.538_596dup (p.Met200ProfsTer31) c.538_596dup (p.Gln199=) c.538_596dup (p.Asp200ProfsTer39) c.817_875dup (p.Ile293ProfsTer33) c.817_875dup (p.Met293ProfsTer31) c.457_515dup (p.Met173ProfsTer31) c.901_959dup (p.Ile321ProfsTer33) c.457_515dup (p.Asp173ProfsTer39) c.457_515dup (p.Ile173ProfsTer33) c.817_875dup (p.Asp293ProfsTer39) | ClinVar dbSNP |
| 17 | g.7673565_7673605del | CA645587356 | TP53 | c.923_963del (p.Leu308ProfsTer15) c.527_567del (p.Leu176ProfsTer15) c.644_684del (p.Leu215ProfsTer15) c.902_942del (p.Leu301ProfsTer15) c.923_963del (p.Leu308ProfsTer?) c.782+576_782+616del (n.782+576_782+616del) c.923_963del (p.Leu308ProfsTer25) c.923_963del (p.Leu308ProfsTer14) c.527_567del (p.Leu176ProfsTer14) c.527_567del (p.Leu176ProfsTer?) c.527_567del (p.Leu176ProfsTer25) c.806_846del (p.Leu269ProfsTer15) c.806_846del (p.Leu269ProfsTer14) c.446_486del (p.Leu149ProfsTer14) c.890_930del (p.Leu297ProfsTer15) c.446_486del (p.Leu149ProfsTer25) c.446_486del (p.Leu149ProfsTer15) c.806_846del (p.Leu269ProfsTer25) | COSMIC |
| 17 | g.7673583_7673592del | CA913190577 | TP53 | c.937_946del (p.Ser313ProfsTer29) c.541_550del (p.Ser181ProfsTer29) c.658_667del (p.Ser220ProfsTer29) c.916_925del (p.Ser306ProfsTer29) c.937_946del (p.Ser313ProfsTer?) c.782+590_782+599del (n.782+590_782+599del) c.937_946del (p.Ser313ProfsTer27) c.541_550del (p.Ser181ProfsTer27) c.541_550del (p.Ser181ProfsTer?) c.820_829del (p.Ser274ProfsTer29) c.820_829del (p.Ser274ProfsTer27) c.460_469del (p.Ser154ProfsTer27) c.904_913del (p.Ser302ProfsTer29) c.460_469del (p.Ser154ProfsTer?) c.460_469del (p.Ser154ProfsTer29) c.820_829del (p.Ser274ProfsTer?) | ClinVar dbSNP |
| 17 | g.7673592_7673610del | CA645587376 | TP53 | c.921_939del c.525_543del c.642_660del c.900_918del c.782+574_782+592del (n.782+574_782+592del) c.804_822del c.444_462del c.888_906del | COSMIC |
| 17 | g.7673592_7673702del | CA645587377 | TP53 | c.919+1_938del c.523+1_542del c.640+1_659del c.898+1_917del c.782+481_782+591del (n.782+481_782+591del) c.802+1_821del c.442+1_461del c.886+1_905del | COSMIC |
| 17 | g.7673592G>A | CA497714260 | TP53 | c.936C>T (p.Thr312=) c.540C>T (p.Thr180=) c.657C>T (p.Thr219=) c.915C>T (p.Thr305=) c.782+589C>T (n.782+589C>T) c.819C>T (p.Thr273=) c.459C>T (p.Thr153=) c.903C>T (p.Thr301=) | COSMIC |
| 17 | g.7673592G>C | CA497714258 | TP53 | c.936C>G (p.Thr312=) c.540C>G (p.Thr180=) c.657C>G (p.Thr219=) c.915C>G (p.Thr305=) c.782+589C>G (n.782+589C>G) c.819C>G (p.Thr273=) c.459C>G (p.Thr153=) c.903C>G (p.Thr301=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7673592G= | CA2245947902 | TP53 | c.936C= (p.Thr312=) c.540C= (p.Thr180=) c.657C= (p.Thr219=) c.915C= (p.Thr305=) c.782+589C= (n.782+589C=) c.819C= (p.Thr273=) c.459C= (p.Thr153=) c.903C= (p.Thr301=) | |
| 17 | g.7673592G>T | CA497714264 | TP53 | c.936C>A (p.Thr312=) c.540C>A (p.Thr180=) c.657C>A (p.Thr219=) c.915C>A (p.Thr305=) c.782+589C>A (n.782+589C>A) c.819C>A (p.Thr273=) c.459C>A (p.Thr153=) c.903C>A (p.Thr301=) | ClinVar dbSNP COSMIC |
| 17 | g.7673593del | CA497714256 | TP53 | c.936del (p.Ser313AlafsTer?) c.540del (p.Ser181AlafsTer?) c.657del (p.Ser220AlafsTer?) c.915del (p.Ser306AlafsTer?) c.782+589del (n.782+589del) c.819del (p.Ser274AlafsTer?) c.459del (p.Ser154AlafsTer?) c.903del (p.Ser302AlafsTer?) | COSMIC COSMIC COSMIC |
| 17 | g.7673593G>A | CA397836069 | TP53 | c.935C>T (p.Thr312Ile) c.539C>T (p.Thr180Ile) c.656C>T (p.Thr219Ile) c.914C>T (p.Thr305Ile) c.782+588C>T (n.782+588C>T) c.818C>T (p.Thr273Ile) c.458C>T (p.Thr153Ile) c.902C>T (p.Thr301Ile) | ClinVar dbSNP COSMIC |
| 17 | g.7673593G>C | CA000505 | TP53 | c.935C>G (p.Thr312Ser) c.539C>G (p.Thr180Ser) c.656C>G (p.Thr219Ser) c.914C>G (p.Thr305Ser) c.782+588C>G (n.782+588C>G) c.818C>G (p.Thr273Ser) c.458C>G (p.Thr153Ser) c.902C>G (p.Thr301Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7673593G= | CA2245947910 | TP53 | c.935C= (p.Thr312=) c.539C= (p.Thr180=) c.656C= (p.Thr219=) c.914C= (p.Thr305=) c.782+588C= (n.782+588C=) c.818C= (p.Thr273=) c.458C= (p.Thr153=) c.902C= (p.Thr301=) | |
| 17 | g.7673593G>T | CA397836074 | TP53 | c.935C>A (p.Thr312Asn) c.539C>A (p.Thr180Asn) c.656C>A (p.Thr219Asn) c.914C>A (p.Thr305Asn) c.782+588C>A (n.782+588C>A) c.818C>A (p.Thr273Asn) c.458C>A (p.Thr153Asn) c.902C>A (p.Thr301Asn) | ClinVar dbSNP |
| 17 | g.7673593_7673594insACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTG | CA645587378 | TP53 | c.935_936insACTGGATGGAGAATATTTCACCCTTCAGGTACTAAGTC (p.Ser313LeufsTer?) c.539_540insACTGGATGGAGAATATTTCACCCTTCAGGTACTAAGTC (p.Ser181LeufsTer?) c.656_657insACTGGATGGAGAATATTTCACCCTTCAGGTACTAAGTC (p.Ser220LeufsTer?) c.914_915insACTGGATGGAGAATATTTCACCCTTCAGGTACTAAGTC (p.Ser306LeufsTer?) c.782+588_782+589insACTGGATGGAGAATATTTCACCCTTCAGGTACTAAGTC (n.782+588_782+589insACTGGATGGAGAATATTTCACCCTTCAGGTACTAAGTC) c.818_819insACTGGATGGAGAATATTTCACCCTTCAGGTACTAAGTC (p.Ser274LeufsTer?) c.458_459insACTGGATGGAGAATATTTCACCCTTCAGGTACTAAGTC (p.Ser154LeufsTer?) c.902_903insACTGGATGGAGAATATTTCACCCTTCAGGTACTAAGTC (p.Ser302LeufsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673594del | CA497714281 | TP53 | c.934del (p.Thr312ProfsTer?) c.538del (p.Thr180ProfsTer?) c.655del (p.Thr219ProfsTer?) c.913del (p.Thr305ProfsTer?) c.782+587del (n.782+587del) c.817del (p.Thr273ProfsTer?) c.457del (p.Thr153ProfsTer?) c.901del (p.Thr301ProfsTer?) | COSMIC |
| 17 | g.7673594T>A | CA397836079 | TP53 | c.934A>T (p.Thr312Ser) c.538A>T (p.Thr180Ser) c.655A>T (p.Thr219Ser) c.913A>T (p.Thr305Ser) c.782+587A>T (n.782+587A>T) c.817A>T (p.Thr273Ser) c.457A>T (p.Thr153Ser) c.901A>T (p.Thr301Ser) | dbSNP COSMIC |
| 17 | g.7673594T>C | CA397836082 | TP53 | c.934A>G (p.Thr312Ala) c.538A>G (p.Thr180Ala) c.655A>G (p.Thr219Ala) c.913A>G (p.Thr305Ala) c.782+587A>G (n.782+587A>G) c.817A>G (p.Thr273Ala) c.457A>G (p.Thr153Ala) c.901A>G (p.Thr301Ala) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.7673594T>G | CA397836085 | TP53 | c.934A>C (p.Thr312Pro) c.538A>C (p.Thr180Pro) c.655A>C (p.Thr219Pro) c.913A>C (p.Thr305Pro) c.782+587A>C (n.782+587A>C) c.817A>C (p.Thr273Pro) c.457A>C (p.Thr153Pro) c.901A>C (p.Thr301Pro) | dbSNP |
| 17 | g.7673594dup | CA645587379 | TP53 | c.934dup (p.Thr312AsnfsTer25) c.538dup (p.Thr180AsnfsTer25) c.655dup (p.Thr219AsnfsTer25) c.913dup (p.Thr305AsnfsTer25) c.934dup (p.Thr312AsnfsTer?) c.782+587dup (n.782+587dup) c.934dup (p.Thr312AsnfsTer24) c.538dup (p.Thr180AsnfsTer24) c.538dup (p.Thr180AsnfsTer?) c.817dup (p.Thr273AsnfsTer25) c.817dup (p.Thr273AsnfsTer24) c.457dup (p.Thr153AsnfsTer24) c.901dup (p.Thr301AsnfsTer25) c.457dup (p.Thr153AsnfsTer?) c.457dup (p.Thr153AsnfsTer25) c.817dup (p.Thr273AsnfsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673594_7673595delinsTG | CA2245947916 | TP53 | c.933_934delinsCA (p.Asn311=) c.537_538delinsCA (p.Asn179=) c.654_655delinsCA (p.Asn218=) c.912_913delinsCA (p.Asn304=) c.782+586_782+587delinsCA (n.782+586_782+587delinsCA) c.816_817delinsCA (p.Asn272=) c.456_457delinsCA (p.Asn152=) c.900_901delinsCA (p.Asn300=) | |
| 17 | g.7673595del | CA497714310 | TP53 | c.933del (p.Asn311LysfsTer?) c.537del (p.Asn179LysfsTer?) c.654del (p.Asn218LysfsTer?) c.912del (p.Asn304LysfsTer?) c.782+586del (n.782+586del) c.816del (p.Asn272LysfsTer?) c.456del (p.Asn152LysfsTer?) c.900del (p.Asn300LysfsTer?) | ClinVar dbSNP COSMIC |
| 17 | g.7673595G>A | CA16607849 | TP53 | c.933C>T (p.Asn311=) c.537C>T (p.Asn179=) c.654C>T (p.Asn218=) c.912C>T (p.Asn304=) c.782+586C>T (n.782+586C>T) c.816C>T (p.Asn272=) c.456C>T (p.Asn152=) c.900C>T (p.Asn300=) | ClinVar dbSNP |
| 17 | g.7673595G>C | CA397836091 | TP53 | c.933C>G (p.Asn311Lys) c.537C>G (p.Asn179Lys) c.654C>G (p.Asn218Lys) c.912C>G (p.Asn304Lys) c.782+586C>G (n.782+586C>G) c.816C>G (p.Asn272Lys) c.456C>G (p.Asn152Lys) c.900C>G (p.Asn300Lys) | dbSNP COSMIC |
| 17 | g.7673595G= | CA2245947932 | TP53 | c.933C= (p.Asn311=) c.537C= (p.Asn179=) c.654C= (p.Asn218=) c.912C= (p.Asn304=) c.782+586C= (n.782+586C=) c.816C= (p.Asn272=) c.456C= (p.Asn152=) c.900C= (p.Asn300=) | |
| 17 | g.7673595G>T | CA397836089 | TP53 | c.933C>A (p.Asn311Lys) c.537C>A (p.Asn179Lys) c.654C>A (p.Asn218Lys) c.912C>A (p.Asn304Lys) c.782+586C>A (n.782+586C>A) c.816C>A (p.Asn272Lys) c.456C>A (p.Asn152Lys) c.900C>A (p.Asn300Lys) | |
| 17 | g.7673596T>A | CA397836095 | TP53 | c.932A>T (p.Asn311Ile) c.536A>T (p.Asn179Ile) c.653A>T (p.Asn218Ile) c.911A>T (p.Asn304Ile) c.782+585A>T (n.782+585A>T) c.815A>T (p.Asn272Ile) c.455A>T (p.Asn152Ile) c.899A>T (p.Asn300Ile) | dbSNP |
| 17 | g.7673596T>C | CA16615690 | TP53 | c.932A>G (p.Asn311Ser) c.536A>G (p.Asn179Ser) c.653A>G (p.Asn218Ser) c.911A>G (p.Asn304Ser) c.782+585A>G (n.782+585A>G) c.815A>G (p.Asn272Ser) c.455A>G (p.Asn152Ser) c.899A>G (p.Asn300Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7673596T>G | CA349248 | TP53 | c.932A>C (p.Asn311Thr) c.536A>C (p.Asn179Thr) c.653A>C (p.Asn218Thr) c.911A>C (p.Asn304Thr) c.782+585A>C (n.782+585A>C) c.815A>C (p.Asn272Thr) c.455A>C (p.Asn152Thr) c.899A>C (p.Asn300Thr) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7673596T= | CA2245947945 | TP53 | c.932A= (p.Asn311=) c.536A= (p.Asn179=) c.653A= (p.Asn218=) c.911A= (p.Asn304=) c.782+585A= (n.782+585A=) c.815A= (p.Asn272=) c.455A= (p.Asn152=) c.899A= (p.Asn300=) | |
| 17 | g.7673597dup | CA891842224 | TP53 | c.932dup (p.Asn311LysfsTer26) c.536dup (p.Asn179LysfsTer26) c.653dup (p.Asn218LysfsTer26) c.911dup (p.Asn304LysfsTer26) c.932dup (p.Asn311LysfsTer?) c.782+585dup (n.782+585dup) c.932dup (p.Asn311LysfsTer25) c.536dup (p.Asn179LysfsTer25) c.536dup (p.Asn179LysfsTer?) c.815dup (p.Asn272LysfsTer26) c.815dup (p.Asn272LysfsTer25) c.455dup (p.Asn152LysfsTer25) c.899dup (p.Asn300LysfsTer26) c.455dup (p.Asn152LysfsTer?) c.455dup (p.Asn152LysfsTer26) c.815dup (p.Asn272LysfsTer?) | ClinVar |
| 17 | g.7673597T>A | CA397836102 | TP53 | c.931A>T (p.Asn311Tyr) c.535A>T (p.Asn179Tyr) c.652A>T (p.Asn218Tyr) c.910A>T (p.Asn304Tyr) c.782+584A>T (n.782+584A>T) c.814A>T (p.Asn272Tyr) c.454A>T (p.Asn152Tyr) c.898A>T (p.Asn300Tyr) | dbSNP COSMIC |
| 17 | g.7673597T>C | CA397836104 | TP53 | c.931A>G (p.Asn311Asp) c.535A>G (p.Asn179Asp) c.652A>G (p.Asn218Asp) c.910A>G (p.Asn304Asp) c.782+584A>G (n.782+584A>G) c.814A>G (p.Asn272Asp) c.454A>G (p.Asn152Asp) c.898A>G (p.Asn300Asp) | |
| 17 | g.7673597T>G | CA397836105 | TP53 | c.931A>C (p.Asn311His) c.535A>C (p.Asn179His) c.652A>C (p.Asn218His) c.910A>C (p.Asn304His) c.782+584A>C (n.782+584A>C) c.814A>C (p.Asn272His) c.454A>C (p.Asn152His) c.898A>C (p.Asn300His) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.7673597T= | CA2245947959 | TP53 | c.931A= (p.Asn311=) c.535A= (p.Asn179=) c.652A= (p.Asn218=) c.910A= (p.Asn304=) c.782+584A= (n.782+584A=) c.814A= (p.Asn272=) c.454A= (p.Asn152=) c.898A= (p.Asn300=) | |
| 17 | g.7673598_7673702del | CA645587380 | TP53 | c.919_931del c.523_535del c.640_652del c.898_910del c.782+480_782+584del (n.782+480_782+584del) c.802_814del c.442_454del c.886_898del | COSMIC |
| 17 | g.7673598G>A | CA497714331 | TP53 | c.930C>T (p.Asn310=) c.534C>T (p.Asn178=) c.651C>T (p.Asn217=) c.909C>T (p.Asn303=) c.782+583C>T (n.782+583C>T) c.813C>T (p.Asn271=) c.453C>T (p.Asn151=) c.897C>T (p.Asn299=) | ClinVar dbSNP |
| 17 | g.7673598G>C | CA397836109 | TP53 | c.930C>G (p.Asn310Lys) c.534C>G (p.Asn178Lys) c.651C>G (p.Asn217Lys) c.909C>G (p.Asn303Lys) c.782+583C>G (n.782+583C>G) c.813C>G (p.Asn271Lys) c.453C>G (p.Asn151Lys) c.897C>G (p.Asn299Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7673598G= | CA2245947967 | TP53 | c.930C= (p.Asn310=) c.534C= (p.Asn178=) c.651C= (p.Asn217=) c.909C= (p.Asn303=) c.782+583C= (n.782+583C=) c.813C= (p.Asn271=) c.453C= (p.Asn151=) c.897C= (p.Asn299=) | |
| 17 | g.7673598G>T | CA10580910 | TP53 | c.930C>A (p.Asn310Lys) c.534C>A (p.Asn178Lys) c.651C>A (p.Asn217Lys) c.909C>A (p.Asn303Lys) c.782+583C>A (n.782+583C>A) c.813C>A (p.Asn271Lys) c.453C>A (p.Asn151Lys) c.897C>A (p.Asn299Lys) | ClinVar dbSNP |
| 17 | g.7673598_7673600delinsCAA | CA645587381 | TP53 | c.928_930delinsTTG (p.Asn310Leu) c.532_534delinsTTG (p.Asn178Leu) c.649_651delinsTTG (p.Asn217Leu) c.907_909delinsTTG (p.Asn303Leu) c.782+581_782+583delinsTTG (n.782+581_782+583delinsTTG) c.811_813delinsTTG (p.Asn271Leu) c.451_453delinsTTG (p.Asn151Leu) c.895_897delinsTTG (p.Asn299Leu) | COSMIC |
| 17 | g.7673598_7673599insA | CA645587383 | TP53 | c.929_930insT (p.Asn311GlnfsTer26) c.533_534insT (p.Asn179GlnfsTer26) c.650_651insT (p.Asn218GlnfsTer26) c.908_909insT (p.Asn304GlnfsTer26) c.929_930insT (p.Asn311GlnfsTer?) c.782+582_782+583insT (n.782+582_782+583insT) c.929_930insT (p.Asn311GlnfsTer25) c.533_534insT (p.Asn179GlnfsTer25) c.533_534insT (p.Asn179GlnfsTer?) c.812_813insT (p.Asn272GlnfsTer26) c.812_813insT (p.Asn272GlnfsTer25) c.452_453insT (p.Asn152GlnfsTer25) c.896_897insT (p.Asn300GlnfsTer26) c.452_453insT (p.Asn152GlnfsTer?) c.452_453insT (p.Asn152GlnfsTer26) c.812_813insT (p.Asn272GlnfsTer?) | COSMIC |
| 17 | g.7673599T>A | CA397836112 | TP53 | c.929A>T (p.Asn310Ile) c.533A>T (p.Asn178Ile) c.650A>T (p.Asn217Ile) c.908A>T (p.Asn303Ile) c.782+582A>T (n.782+582A>T) c.812A>T (p.Asn271Ile) c.452A>T (p.Asn151Ile) c.896A>T (p.Asn299Ile) | ClinVar dbSNP |
| 17 | g.7673599T>C | CA397836116 | TP53 | c.929A>G (p.Asn310Ser) c.533A>G (p.Asn178Ser) c.650A>G (p.Asn217Ser) c.908A>G (p.Asn303Ser) c.782+582A>G (n.782+582A>G) c.812A>G (p.Asn271Ser) c.452A>G (p.Asn151Ser) c.896A>G (p.Asn299Ser) | ClinVar dbSNP |
| 17 | g.7673599T>G | CA397836117 | TP53 | c.929A>C (p.Asn310Thr) c.533A>C (p.Asn178Thr) c.650A>C (p.Asn217Thr) c.908A>C (p.Asn303Thr) c.782+582A>C (n.782+582A>C) c.812A>C (p.Asn271Thr) c.452A>C (p.Asn151Thr) c.896A>C (p.Asn299Thr) | dbSNP COSMIC |
| 17 | g.7673600dup | CA497714339 | TP53 | c.929dup (p.Asn310LysfsTer27) c.533dup (p.Asn178LysfsTer27) c.650dup (p.Asn217LysfsTer27) c.908dup (p.Asn303LysfsTer27) c.929dup (p.Asn310LysfsTer?) c.782+582dup (n.782+582dup) c.929dup (p.Asn310LysfsTer26) c.533dup (p.Asn178LysfsTer26) c.533dup (p.Asn178LysfsTer?) c.812dup (p.Asn271LysfsTer27) c.812dup (p.Asn271LysfsTer26) c.452dup (p.Asn151LysfsTer26) c.896dup (p.Asn299LysfsTer27) c.452dup (p.Asn151LysfsTer?) c.452dup (p.Asn151LysfsTer27) c.812dup (p.Asn271LysfsTer?) | |
| 17 | g.7673600T>A | CA397836121 | TP53 | c.928A>T (p.Asn310Tyr) c.532A>T (p.Asn178Tyr) c.649A>T (p.Asn217Tyr) c.907A>T (p.Asn303Tyr) c.782+581A>T (n.782+581A>T) c.811A>T (p.Asn271Tyr) c.451A>T (p.Asn151Tyr) c.895A>T (p.Asn299Tyr) | |
| 17 | g.7673600T>C | CA397836124 | TP53 | c.928A>G (p.Asn310Asp) c.532A>G (p.Asn178Asp) c.649A>G (p.Asn217Asp) c.907A>G (p.Asn303Asp) c.782+581A>G (n.782+581A>G) c.811A>G (p.Asn271Asp) c.451A>G (p.Asn151Asp) c.895A>G (p.Asn299Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |