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.7674161_7674237dup | CA913190585 | TP53 | c.727_782+21dup c.331_386+21dup c.448_503+21dup c.706_761+21dup c.610_665+21dup c.250_305+21dup c.694_749+21dup | ClinVar dbSNP |
17 | g.7674199_7674222del | CA2733136155 | TP53 | c.742_765del (p.Arg248_Ile255del) c.346_369del (p.Arg116_Ile123del) c.463_486del (p.Arg155_Ile162del) c.721_744del (p.Arg241_Ile248del) c.625_648del (p.Arg209_Ile216del) c.265_288del (p.Arg89_Ile96del) c.709_732del (p.Arg237_Ile244del) | dbSNP |
17 | g.7674204_7674225del | CA645588513 | TP53 | c.738_759del (p.Met246IlefsTer?) c.342_363del (p.Met114IlefsTer?) c.459_480del (p.Met153IlefsTer?) c.717_738del (p.Met239IlefsTer?) c.738_759del (p.Met246IlefsTer16) c.621_642del (p.Met207IlefsTer?) c.261_282del (p.Met87IlefsTer?) c.705_726del (p.Met235IlefsTer?) | COSMIC COSMIC COSMIC COSMIC |
17 | g.7674206_7674221del | CA645588517 | TP53 | c.743_758del (p.Arg248ProfsTer?) c.347_362del (p.Arg116ProfsTer?) c.464_479del (p.Arg155ProfsTer?) c.722_737del (p.Arg241ProfsTer?) c.743_758del (p.Arg248ProfsTer16) c.626_641del (p.Arg209ProfsTer?) c.266_281del (p.Arg89ProfsTer?) c.710_725del (p.Arg237ProfsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7674210_7674287dup | CA2697552064 | TP53 | c.676_753dup (p.Ile251_Leu252insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.280_357dup (p.Ile119_Leu120insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.397_474dup (p.Ile158_Leu159insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.655_732dup (p.Ile244_Leu245insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.559_636dup (p.Ile212_Leu213insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.199_276dup (p.Ile92_Leu93insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.643_720dup (p.Ile240_Leu241insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) | ClinVar |
17 | g.7674214_7674228del | CA645588527 | TP53 | c.738_752del (p.Met246_Pro250del) c.342_356del (p.Met114_Pro118del) c.459_473del (p.Met153_Pro157del) c.717_731del (p.Met239_Pro243del) c.621_635del (p.Met207_Pro211del) c.261_275del (p.Met87_Pro91del) c.705_719del (p.Met235_Pro239del) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7674214_7674237del | CA891842241 | TP53 | c.729_752del (p.Met243_Pro250del) c.333_356del (p.Met111_Pro118del) c.450_473del (p.Met150_Pro157del) c.708_731del (p.Met236_Pro243del) c.612_635del (p.Met204_Pro211del) c.252_275del (p.Met84_Pro91del) c.696_719del (p.Met232_Pro239del) | |
17 | g.7674213_7674224del | CA645588530 | TP53 | c.740_751del (p.Asn247_Pro250del) c.344_355del (p.Asn115_Pro118del) c.461_472del (p.Asn154_Pro157del) c.719_730del (p.Asn240_Pro243del) c.623_634del (p.Asn208_Pro211del) c.263_274del (p.Asn88_Pro91del) c.707_718del (p.Asn236_Pro239del) | COSMIC |
17 | g.7674214_7674222del | CA645588532 | TP53 | c.742_750del (p.Arg248_Pro250del) c.346_354del (p.Arg116_Pro118del) c.463_471del (p.Arg155_Pro157del) c.721_729del (p.Arg241_Pro243del) c.625_633del (p.Arg209_Pro211del) c.265_273del (p.Arg89_Pro91del) c.709_717del (p.Arg237_Pro239del) | COSMIC |
17 | g.7674218_7674967del | CA645588534 | TP53 | c.569_750del c.173_354del c.290_471del c.548_729del c.452_633del c.92_273del c.536_717del | COSMIC COSMIC COSMIC |
17 | g.7674215_7674225del | CA2695202152 | TP53 | c.738_748del (p.Met246IlefsTer14) c.342_352del (p.Met114IlefsTer14) c.459_469del (p.Met153IlefsTer14) c.717_727del (p.Met239IlefsTer14) c.738_748del (p.Met246IlefsTer?) c.621_631del (p.Met207IlefsTer14) c.261_271del (p.Met87IlefsTer14) c.705_715del (p.Met235IlefsTer14) | |
17 | g.7674216_7674225del | CA2580094870 | TP53 | c.738_747del (p.Met246IlefsTer?) c.342_351del (p.Met114IlefsTer?) c.459_468del (p.Met153IlefsTer?) c.717_726del (p.Met239IlefsTer?) c.738_747del (p.Met246IlefsTer20) c.621_630del (p.Met207IlefsTer?) c.261_270del (p.Met87IlefsTer?) c.705_714del (p.Met235IlefsTer?) | ClinVar |
17 | g.7674217_7674225del | CA645588541 | TP53 | c.739_747del (p.Asn247_Arg249del) c.343_351del (p.Asn115_Arg117del) c.460_468del (p.Asn154_Arg156del) c.718_726del (p.Asn240_Arg242del) c.622_630del (p.Asn208_Arg210del) c.262_270del (p.Asn88_Arg90del) c.706_714del (p.Asn236_Arg238del) | COSMIC |
17 | g.7674217_7674234del | CA2635876308 | TP53 | c.730_747del (p.Gly244_Arg249del) c.334_351del (p.Gly112_Arg117del) c.451_468del (p.Gly151_Arg156del) c.709_726del (p.Gly237_Arg242del) c.613_630del (p.Gly205_Arg210del) c.253_270del (p.Gly85_Arg90del) c.697_714del (p.Gly233_Arg238del) | gnomAD v4 |
17 | g.7674220_7674225del | CA645588543 | TP53 | c.740_745del (p.Asn247_Arg248del) c.344_349del (p.Asn115_Arg116del) c.461_466del (p.Asn154_Arg155del) c.719_724del (p.Asn240_Arg241del) c.623_628del (p.Asn208_Arg209del) c.263_268del (p.Asn88_Arg89del) c.707_712del (p.Asn236_Arg237del) | ClinVar dbSNP COSMIC COSMIC |
17 | g.7674219_7674227del | CA2499224967 | TP53 | c.737_745del (p.Met246_Arg248del) c.341_349del (p.Met114_Arg116del) c.458_466del (p.Met153_Arg155del) c.716_724del (p.Met239_Arg241del) c.620_628del (p.Met207_Arg209del) c.260_268del (p.Met87_Arg89del) c.704_712del (p.Met235_Arg237del) | ClinVar dbSNP |
17 | g.7674218_7674231del | CA645588544 | TP53 | c.732_745del (p.Gly245AlafsTer14) c.336_349del (p.Gly113AlafsTer14) c.453_466del (p.Gly152AlafsTer14) c.711_724del (p.Gly238AlafsTer14) c.732_745del (p.Gly245AlafsTer?) c.453_466del (p.Gly151=) c.615_628del (p.Gly206AlafsTer14) c.255_268del (p.Gly86AlafsTer14) c.699_712del (p.Gly234AlafsTer14) | COSMIC |
17 | g.7674218_7674233delinsTCCGGTTCATGCCGCC | CA2245951348 | TP53 | c.730_745delinsGGCGGCATGAACCGGA (p.Gly244=) c.334_349delinsGGCGGCATGAACCGGA (p.Gly112=) c.451_466delinsGGCGGCATGAACCGGA (p.Gly151=) c.709_724delinsGGCGGCATGAACCGGA (p.Gly237=) c.613_628delinsGGCGGCATGAACCGGA (p.Gly205=) c.253_268delinsGGCGGCATGAACCGGA (p.Gly85=) c.697_712delinsGGCGGCATGAACCGGA (p.Gly233=) | |
17 | g.7674219_7674221delinsGCA | CA645588546 | TP53 | c.742_744delinsTGC (p.Arg248Cys) c.346_348delinsTGC (p.Arg116Cys) c.463_465delinsTGC (p.Arg155Cys) c.721_723delinsTGC (p.Arg241Cys) c.625_627delinsTGC (p.Arg209Cys) c.265_267delinsTGC (p.Arg89Cys) c.709_711delinsTGC (p.Arg237Cys) | COSMIC |
17 | g.7674219_7674223delinsGGGAA | CA645588549 | TP53 | c.740_744delinsTTCCC (p.Asn247_Arg248delinsIlePro) c.344_348delinsTTCCC (p.Asn115_Arg116delinsIlePro) c.461_465delinsTTCCC (p.Asn154_Arg155delinsIlePro) c.719_723delinsTTCCC (p.Asn240_Arg241delinsIlePro) c.623_627delinsTTCCC (p.Asn208_Arg209delinsIlePro) c.263_267delinsTTCCC (p.Asn88_Arg89delinsIlePro) c.707_711delinsTTCCC (p.Asn236_Arg237delinsIlePro) | COSMIC |
17 | g.7674220_7674234del | CA645369701 | TP53 | c.730_744del (p.Gly244_Arg248del) c.334_348del (p.Gly112_Arg116del) c.451_465del (p.Gly151_Arg155del) c.709_723del (p.Gly237_Arg241del) c.613_627del (p.Gly205_Arg209del) c.253_267del (p.Gly85_Arg89del) c.697_711del (p.Gly233_Arg237del) | ClinVar dbSNP |
17 | g.7674220_7674221delinsTA | CA645588550 | TP53 | c.742_743delinsTA (p.Arg248Ter) c.346_347delinsTA (p.Arg116Ter) c.463_464delinsTA (p.Arg155Ter) c.721_722delinsTA (p.Arg241Ter) c.625_626delinsTA (p.Arg209Ter) c.265_266delinsTA (p.Arg89Ter) c.709_710delinsTA (p.Arg237Ter) | COSMIC |
17 | g.7674231_7674232insGAGGTTCATGGGCGGCGGTTCATGCCG | CA2580612889 | TP53 | c.743_744insCCGCCCATGAACCTCCGGCATGAACCG (p.Arg249ArgfsTer3) c.347_348insCCGCCCATGAACCTCCGGCATGAACCG (p.Arg117ArgfsTer3) c.464_465insCCGCCCATGAACCTCCGGCATGAACCG (p.Arg156ArgfsTer3) c.722_723insCCGCCCATGAACCTCCGGCATGAACCG (p.Arg242ArgfsTer3) c.626_627insCCGCCCATGAACCTCCGGCATGAACCG (p.Arg210ArgfsTer3) c.266_267insCCGCCCATGAACCTCCGGCATGAACCG (p.Arg90ArgfsTer3) c.710_711insCCGCCCATGAACCTCCGGCATGAACCG (p.Arg238ArgfsTer3) | ClinVar |
17 | g.7674221G>A | CA000382 | TP53 | c.742C>T (p.Arg248Trp) c.346C>T (p.Arg116Trp) c.463C>T (p.Arg155Trp) c.721C>T (p.Arg241Trp) c.625C>T (p.Arg209Trp) c.265C>T (p.Arg89Trp) c.709C>T (p.Arg237Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7674221G>C | CA16603069 | TP53 | c.742C>G (p.Arg248Gly) c.346C>G (p.Arg116Gly) c.463C>G (p.Arg155Gly) c.721C>G (p.Arg241Gly) c.625C>G (p.Arg209Gly) c.265C>G (p.Arg89Gly) c.709C>G (p.Arg237Gly) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7674221G= | CA2245951422 | TP53 | c.742C= (p.Arg248=) c.346C= (p.Arg116=) c.463C= (p.Arg155=) c.721C= (p.Arg241=) c.625C= (p.Arg209=) c.265C= (p.Arg89=) c.709C= (p.Arg237=) | |
17 | g.7674221G>T | CA497717294 | TP53 | c.742C>A (p.Arg248=) c.346C>A (p.Arg116=) c.463C>A (p.Arg155=) c.721C>A (p.Arg241=) c.625C>A (p.Arg209=) c.265C>A (p.Arg89=) c.709C>A (p.Arg237=) | ClinVar dbSNP COSMIC |
17 | g.7674221_7674222delinsAA | CA645373070 | TP53 | c.741_742delinsTT (p.Arg248Trp) c.345_346delinsTT (p.Arg116Trp) c.462_463delinsTT (p.Arg155Trp) c.720_721delinsTT (p.Arg241Trp) c.624_625delinsTT (p.Arg209Trp) c.264_265delinsTT (p.Arg89Trp) c.708_709delinsTT (p.Arg237Trp) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7674221_7674222delinsAT | CA645588551 | TP53 | c.741_742delinsAT (p.Asn247_Arg248delinsLysTrp) c.345_346delinsAT (p.Asn115_Arg116delinsLysTrp) c.462_463delinsAT (p.Asn154_Arg155delinsLysTrp) c.720_721delinsAT (p.Asn240_Arg241delinsLysTrp) c.624_625delinsAT (p.Asn208_Arg209delinsLysTrp) c.264_265delinsAT (p.Asn88_Arg89delinsLysTrp) c.708_709delinsAT (p.Asn236_Arg237delinsLysTrp) | COSMIC |
17 | g.7674221_7674222delinsGG | CA2245951427 | TP53 | c.741_742delinsCC (p.Asn247=) c.345_346delinsCC (p.Asn115=) c.462_463delinsCC (p.Asn154=) c.720_721delinsCC (p.Asn240=) c.624_625delinsCC (p.Asn208=) c.264_265delinsCC (p.Asn88=) c.708_709delinsCC (p.Asn236=) | |
17 | g.7674222dup | CA645588552 | TP53 | c.742dup (p.Arg248ProfsTer16) c.346dup (p.Arg116ProfsTer16) c.463dup (p.Arg155ProfsTer16) c.721dup (p.Arg241ProfsTer16) c.742dup (p.Arg248ProfsTer?) c.463dup (p.Arg155ProfsTer?) c.625dup (p.Arg209ProfsTer16) c.265dup (p.Arg89ProfsTer16) c.709dup (p.Arg237ProfsTer16) | ClinVar COSMIC COSMIC COSMIC COSMIC |
17 | g.7674222del | CA497717296 | TP53 | c.742del (p.Arg248GlyfsTer?) c.346del (p.Arg116GlyfsTer?) c.463del (p.Arg155GlyfsTer?) c.721del (p.Arg241GlyfsTer?) c.742del (p.Arg248GlyfsTer21) c.625del (p.Arg209GlyfsTer?) c.265del (p.Arg89GlyfsTer?) c.709del (p.Arg237GlyfsTer?) | COSMIC |
17 | g.7674221_7674245delinsGGTTCATGCCGCCCATGCAGGAACT | CA2245951429 | TP53 | c.718_742delinsAGTTCCTGCATGGGCGGCATGAACC (p.Ser240=) c.322_346delinsAGTTCCTGCATGGGCGGCATGAACC (p.Ser108=) c.439_463delinsAGTTCCTGCATGGGCGGCATGAACC (p.Ser147=) c.697_721delinsAGTTCCTGCATGGGCGGCATGAACC (p.Ser233=) c.601_625delinsAGTTCCTGCATGGGCGGCATGAACC (p.Ser201=) c.241_265delinsAGTTCCTGCATGGGCGGCATGAACC (p.Ser81=) c.685_709delinsAGTTCCTGCATGGGCGGCATGAACC (p.Ser229=) | |
17 | g.7674221_7674222insC | CA497717305 | TP53 | c.741_742insG (p.Arg248AlafsTer16) c.345_346insG (p.Arg116AlafsTer16) c.462_463insG (p.Arg155AlafsTer16) c.720_721insG (p.Arg241AlafsTer16) c.741_742insG (p.Arg248AlafsTer?) c.462_463insG (p.Arg155AlafsTer?) c.624_625insG (p.Arg209AlafsTer16) c.264_265insG (p.Arg89AlafsTer16) c.708_709insG (p.Arg237AlafsTer16) | |
17 | g.7674222G>A | CA000380 | TP53 | c.741C>T (p.Asn247=) c.345C>T (p.Asn115=) c.462C>T (p.Asn154=) c.720C>T (p.Asn240=) c.624C>T (p.Asn208=) c.264C>T (p.Asn88=) c.708C>T (p.Asn236=) | ClinVar dbSNP COSMIC |
17 | g.7674222G>C | CA397838969 | TP53 | c.741C>G (p.Asn247Lys) c.345C>G (p.Asn115Lys) c.462C>G (p.Asn154Lys) c.720C>G (p.Asn240Lys) c.624C>G (p.Asn208Lys) c.264C>G (p.Asn88Lys) c.708C>G (p.Asn236Lys) | dbSNP |
17 | g.7674222G= | CA2245951457 | TP53 | c.741C= (p.Asn247=) c.345C= (p.Asn115=) c.462C= (p.Asn154=) c.720C= (p.Asn240=) c.624C= (p.Asn208=) c.264C= (p.Asn88=) c.708C= (p.Asn236=) | |
17 | g.7674222G>T | CA397838962 | TP53 | c.741C>A (p.Asn247Lys) c.345C>A (p.Asn115Lys) c.462C>A (p.Asn154Lys) c.720C>A (p.Asn240Lys) c.624C>A (p.Asn208Lys) c.264C>A (p.Asn88Lys) c.708C>A (p.Asn236Lys) | dbSNP COSMIC |
17 | g.7674222_7674223delinsTA | CA645588553 | TP53 | c.740_741delinsTA (p.Asn247Ile) c.344_345delinsTA (p.Asn115Ile) c.461_462delinsTA (p.Asn154Ile) c.719_720delinsTA (p.Asn240Ile) c.623_624delinsTA (p.Asn208Ile) c.263_264delinsTA (p.Asn88Ile) c.707_708delinsTA (p.Asn236Ile) | COSMIC |
17 | g.7674225_7674248del | CA000355 | TP53 | c.718_741del (p.Ser240_Asn247del) c.322_345del (p.Ser108_Asn115del) c.439_462del (p.Ser147_Asn154del) c.697_720del (p.Ser233_Asn240del) c.601_624del (p.Ser201_Asn208del) c.241_264del (p.Ser81_Asn88del) c.685_708del (p.Ser229_Asn236del) | ClinVar dbSNP |
17 | g.7674223T>A | CA000378 | TP53 | c.740A>T (p.Asn247Ile) c.344A>T (p.Asn115Ile) c.461A>T (p.Asn154Ile) c.719A>T (p.Asn240Ile) c.623A>T (p.Asn208Ile) c.263A>T (p.Asn88Ile) c.707A>T (p.Asn236Ile) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7674223T>C | CA16615997 | TP53 | c.740A>G (p.Asn247Ser) c.344A>G (p.Asn115Ser) c.461A>G (p.Asn154Ser) c.719A>G (p.Asn240Ser) c.623A>G (p.Asn208Ser) c.263A>G (p.Asn88Ser) c.707A>G (p.Asn236Ser) | ClinVar dbSNP COSMIC |
17 | g.7674223T>G | CA397838974 | TP53 | c.740A>C (p.Asn247Thr) c.344A>C (p.Asn115Thr) c.461A>C (p.Asn154Thr) c.719A>C (p.Asn240Thr) c.623A>C (p.Asn208Thr) c.263A>C (p.Asn88Thr) c.707A>C (p.Asn236Thr) | dbSNP COSMIC |
17 | g.7674223T= | CA2245951471 | TP53 | c.740A= (p.Asn247=) c.344A= (p.Asn115=) c.461A= (p.Asn154=) c.719A= (p.Asn240=) c.623A= (p.Asn208=) c.263A= (p.Asn88=) c.707A= (p.Asn236=) | |
17 | g.7674223_7674224delinsAA | CA645588557 | TP53 | c.739_740delinsTT (p.Asn247Phe) c.343_344delinsTT (p.Asn115Phe) c.460_461delinsTT (p.Asn154Phe) c.718_719delinsTT (p.Asn240Phe) c.622_623delinsTT (p.Asn208Phe) c.262_263delinsTT (p.Asn88Phe) c.706_707delinsTT (p.Asn236Phe) | COSMIC |
17 | g.7674224del | CA497717309 | TP53 | c.740del (p.Asn247ThrfsTer?) c.344del (p.Asn115ThrfsTer?) c.461del (p.Asn154ThrfsTer?) c.719del (p.Asn240ThrfsTer?) c.740del (p.Asn247ThrfsTer22) c.623del (p.Asn208ThrfsTer?) c.263del (p.Asn88ThrfsTer?) c.707del (p.Asn236ThrfsTer?) | COSMIC |
17 | g.7674223_7674225delinsAAA | CA2580094884 | TP53 | c.738_740delinsTTT (p.Met246_Asn247delinsIlePhe) c.342_344delinsTTT (p.Met114_Asn115delinsIlePhe) c.459_461delinsTTT (p.Met153_Asn154delinsIlePhe) c.717_719delinsTTT (p.Met239_Asn240delinsIlePhe) c.621_623delinsTTT (p.Met207_Asn208delinsIlePhe) c.261_263delinsTTT (p.Met87_Asn88delinsIlePhe) c.705_707delinsTTT (p.Met235_Asn236delinsIlePhe) | ClinVar |
17 | g.7674223_7674230del | CA645588558 | TP53 | c.733_740del (p.Gly245ProfsTer16) c.337_344del (p.Gly113ProfsTer16) c.454_461del (p.Gly152ProfsTer16) c.712_719del (p.Gly238ProfsTer16) c.733_740del (p.Gly245ProfsTer?) c.454_461del (p.Gly152ProfsTer?) c.616_623del (p.Gly206ProfsTer16) c.256_263del (p.Gly86ProfsTer16) c.700_707del (p.Gly234ProfsTer16) | COSMIC |