| 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.7673635_7673845del | CA645587395 | TP53 | c.783-8_920-27del c.387-8_524-27del c.504-8_641-27del c.762-8_899-27del c.782+336_782+546del (n.782+336_782+546del) c.666-8_803-27del c.306-8_443-27del c.750-8_887-27del | COSMIC |
| 17 | g.7673705_7673827del | CA645587414 | TP53 | c.794_916del (p.Leu265_Lys305del) c.398_520del (p.Leu133_Lys173del) c.515_637del (p.Leu172_Lys212del) c.773_895del (p.Leu258_Lys298del) c.782+355_782+477del (n.782+355_782+477del) c.677_799del (p.Leu226_Lys266del) c.317_439del (p.Leu106_Lys146del) c.761_883del (p.Leu254_Lys294del) | COSMIC |
| 17 | g.7673708_7673742dup | CA2582342142 | TP53 | c.878_912dup (p.Lys305GlyfsTer?) c.482_516dup (p.Lys173GlyfsTer?) c.599_633dup (p.Lys212GlyfsTer?) c.857_891dup (p.Lys298GlyfsTer?) c.782+439_782+473dup (n.782+439_782+473dup) c.761_795dup (p.Lys266GlyfsTer?) c.401_435dup (p.Lys146GlyfsTer?) c.845_879dup (p.Lys294GlyfsTer?) | ClinVar |
| 17 | g.7673709_7673743del | CA645587417 | TP53 | c.877_911del (p.Gly293Ter) c.481_515del (p.Gly161Ter) c.598_632del (p.Gly200Ter) c.856_890del (p.Gly286Ter) c.782+438_782+472del (n.782+438_782+472del) c.760_794del (p.Gly254Ter) c.400_434del (p.Gly134Ter) c.844_878del (p.Gly282Ter) | COSMIC |
| 17 | g.7673711_7673734del | CA645587419 | TP53 | c.886_909del (p.His296_Ser303del) c.490_513del (p.His164_Ser171del) c.607_630del (p.His203_Ser210del) c.865_888del (p.His289_Ser296del) c.782+447_782+470del (n.782+447_782+470del) c.769_792del (p.His257_Ser264del) c.409_432del (p.His137_Ser144del) c.853_876del (p.His285_Ser292del) | COSMIC |
| 17 | g.7673718_7673739del | CA2695224219 | TP53 | c.883_904del (p.Pro295GlyfsTer?) c.487_508del (p.Pro163GlyfsTer?) c.604_625del (p.Pro202GlyfsTer?) c.862_883del (p.Pro288GlyfsTer?) c.782+444_782+465del (n.782+444_782+465del) c.766_787del (p.Pro256GlyfsTer?) c.406_427del (p.Pro136GlyfsTer?) c.850_871del (p.Pro284GlyfsTer?) | |
| 17 | g.7673727_7673732delinsTCGTGG | CA2245948644 | TP53 | c.888_893delinsCCACGA (p.His296=) c.492_497delinsCCACGA (p.His164=) c.609_614delinsCCACGA (p.His203=) c.867_872delinsCCACGA (p.His289=) c.782+449_782+454delinsCCACGA (n.782+449_782+454delinsCCACGA) c.771_776delinsCCACGA (p.His257=) c.411_416delinsCCACGA (p.His137=) c.855_860delinsCCACGA (p.His285=) | |
| 17 | g.7673728_7673732del | CA913190580 | TP53 | c.888_892del (p.His296GlnfsTer8) c.492_496del (p.His164GlnfsTer8) c.609_613del (p.His203GlnfsTer8) c.867_871del (p.His289GlnfsTer8) c.782+449_782+453del (n.782+449_782+453del) c.771_775del (p.His257GlnfsTer8) c.411_415del (p.His137GlnfsTer8) c.855_859del (p.His285GlnfsTer8) | ClinVar dbSNP |
| 17 | g.7673730_7673731dup | CA645588302 | TP53 | c.890_891dup (p.Glu298ThrfsTer?) c.494_495dup (p.Glu166ThrfsTer?) c.611_612dup (p.Glu205ThrfsTer?) c.869_870dup (p.Glu291ThrfsTer?) c.782+451_782+452dup (n.782+451_782+452dup) c.773_774dup (p.Glu259ThrfsTer?) c.413_414dup (p.Glu139ThrfsTer?) c.857_858dup (p.Glu287ThrfsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673730del | CA497715562 | TP53 | c.890del (p.His297ProfsTer?) c.494del (p.His165ProfsTer?) c.611del (p.His204ProfsTer?) c.869del (p.His290ProfsTer?) c.782+451del (n.782+451del) c.773del (p.His258ProfsTer?) c.413del (p.His138ProfsTer?) c.857del (p.His286ProfsTer?) | ClinVar COSMIC |
| 17 | g.7673730T>A | CA397836447 | TP53 | c.890A>T (p.His297Leu) c.494A>T (p.His165Leu) c.611A>T (p.His204Leu) c.869A>T (p.His290Leu) c.782+451A>T (n.782+451A>T) c.773A>T (p.His258Leu) c.413A>T (p.His138Leu) c.857A>T (p.His286Leu) | dbSNP |
| 17 | g.7673730T>C | CA10580914 | TP53 | c.890A>G (p.His297Arg) c.494A>G (p.His165Arg) c.611A>G (p.His204Arg) c.869A>G (p.His290Arg) c.782+451A>G (n.782+451A>G) c.773A>G (p.His258Arg) c.413A>G (p.His138Arg) c.857A>G (p.His286Arg) | ClinVar dbSNP |
| 17 | g.7673730T>G | CA397836444 | TP53 | c.890A>C (p.His297Pro) c.494A>C (p.His165Pro) c.611A>C (p.His204Pro) c.869A>C (p.His290Pro) c.782+451A>C (n.782+451A>C) c.773A>C (p.His258Pro) c.413A>C (p.His138Pro) c.857A>C (p.His286Pro) | COSMIC |
| 17 | g.7673730T= | CA2245948709 | TP53 | c.890A= (p.His297=) c.494A= (p.His165=) c.611A= (p.His204=) c.869A= (p.His290=) c.782+451A= (n.782+451A=) c.773A= (p.His258=) c.413A= (p.His138=) c.857A= (p.His286=) | |
| 17 | g.7673732_7673750dup | CA2499224957 | TP53 | c.872_890dup (p.His297GlnfsTer15) c.476_494dup (p.His165GlnfsTer15) c.593_611dup (p.His204GlnfsTer15) c.851_869dup (p.His290GlnfsTer15) c.782+433_782+451dup (n.782+433_782+451dup) c.755_773dup (p.His258GlnfsTer15) c.395_413dup (p.His138GlnfsTer15) c.839_857dup (p.His286GlnfsTer15) | ClinVar dbSNP |
| 17 | g.7673732_7673750del | CA645588303 | TP53 | c.872_890del (p.Lys291ThrfsTer?) c.476_494del (p.Lys159ThrfsTer?) c.593_611del (p.Lys198ThrfsTer?) c.851_869del (p.Lys284ThrfsTer?) c.782+433_782+451del (n.782+433_782+451del) c.755_773del (p.Lys252ThrfsTer?) c.395_413del (p.Lys132ThrfsTer?) c.839_857del (p.Lys280ThrfsTer?) | COSMIC |
| 17 | g.7673730_7673775delinsTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCC | CA2245948714 | TP53 | c.845_890delinsGGCGCACAGAGGAAGAGAATCTCCGCAAGAAAGGGGAGCCTCACCA (p.Arg282=) c.449_494delinsGGCGCACAGAGGAAGAGAATCTCCGCAAGAAAGGGGAGCCTCACCA (p.Arg150=) c.566_611delinsGGCGCACAGAGGAAGAGAATCTCCGCAAGAAAGGGGAGCCTCACCA (p.Arg189=) c.824_869delinsGGCGCACAGAGGAAGAGAATCTCCGCAAGAAAGGGGAGCCTCACCA (p.Arg275=) c.782+406_782+451delinsGGCGCACAGAGGAAGAGAATCTCCGCAAGAAAGGGGAGCCTCACCA (n.782+406_782+451delinsGGCGCACAGAGGAAGAGAATCTCCGCAAGAAAGGGGAGCCTCACCA) c.728_773delinsGGCGCACAGAGGAAGAGAATCTCCGCAAGAAAGGGGAGCCTCACCA (p.Arg243=) c.368_413delinsGGCGCACAGAGGAAGAGAATCTCCGCAAGAAAGGGGAGCCTCACCA (p.Arg123=) c.812_857delinsGGCGCACAGAGGAAGAGAATCTCCGCAAGAAAGGGGAGCCTCACCA (p.Arg271=) | |
| 17 | g.7673731G>A | CA397836451 | TP53 | c.889C>T (p.His297Tyr) c.493C>T (p.His165Tyr) c.610C>T (p.His204Tyr) c.868C>T (p.His290Tyr) c.782+450C>T (n.782+450C>T) c.772C>T (p.His258Tyr) c.412C>T (p.His138Tyr) c.856C>T (p.His286Tyr) | ClinVar COSMIC |
| 17 | g.7673731G>C | CA397836454 | TP53 | c.889C>G (p.His297Asp) c.493C>G (p.His165Asp) c.610C>G (p.His204Asp) c.868C>G (p.His290Asp) c.782+450C>G (n.782+450C>G) c.772C>G (p.His258Asp) c.412C>G (p.His138Asp) c.856C>G (p.His286Asp) | |
| 17 | g.7673731G>T | CA397836457 | TP53 | c.889C>A (p.His297Asn) c.493C>A (p.His165Asn) c.610C>A (p.His204Asn) c.868C>A (p.His290Asn) c.782+450C>A (n.782+450C>A) c.772C>A (p.His258Asn) c.412C>A (p.His138Asn) c.856C>A (p.His286Asn) | COSMIC |
| 17 | g.7673731_7673732delinsAA | CA645588306 | TP53 | c.888_889delinsTT (p.His297Tyr) c.492_493delinsTT (p.His165Tyr) c.609_610delinsTT (p.His204Tyr) c.867_868delinsTT (p.His290Tyr) c.782+449_782+450delinsTT (n.782+449_782+450delinsTT) c.771_772delinsTT (p.His258Tyr) c.411_412delinsTT (p.His138Tyr) c.855_856delinsTT (p.His286Tyr) | COSMIC |
| 17 | g.7673732del | CA645588304 | TP53 | c.889del (p.His297ThrfsTer?) c.493del (p.His165ThrfsTer?) c.610del (p.His204ThrfsTer?) c.868del (p.His290ThrfsTer?) c.782+450del (n.782+450del) c.772del (p.His258ThrfsTer?) c.412del (p.His138ThrfsTer?) c.856del (p.His286ThrfsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673733_7673737del | CA645588305 | TP53 | c.885_889del (p.His296ArgfsTer8) c.489_493del (p.His164ArgfsTer8) c.606_610del (p.His203ArgfsTer8) c.864_868del (p.His289ArgfsTer8) c.782+446_782+450del (n.782+446_782+450del) c.768_772del (p.His257ArgfsTer8) c.408_412del (p.His137ArgfsTer8) c.852_856del (p.His285ArgfsTer8) | COSMIC |
| 17 | g.7673734_7673778del | CA913190582 | TP53 | c.845_889del (p.Arg282_His296del) c.449_493del (p.Arg150_His164del) c.566_610del (p.Arg189_His203del) c.824_868del (p.Arg275_His289del) c.782+406_782+450del (n.782+406_782+450del) c.728_772del (p.Arg243_His257del) c.368_412del (p.Arg123_His137del) c.812_856del (p.Arg271_His285del) | ClinVar dbSNP |
| 17 | g.7673732G>A | CA001400 | TP53 | c.888C>T (p.His296=) c.492C>T (p.His164=) c.609C>T (p.His203=) c.867C>T (p.His289=) c.782+449C>T (n.782+449C>T) c.771C>T (p.His257=) c.411C>T (p.His137=) c.855C>T (p.His285=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.7673732G>C | CA397836462 | TP53 | c.888C>G (p.His296Gln) c.492C>G (p.His164Gln) c.609C>G (p.His203Gln) c.867C>G (p.His289Gln) c.782+449C>G (n.782+449C>G) c.771C>G (p.His257Gln) c.411C>G (p.His137Gln) c.855C>G (p.His285Gln) | dbSNP gnomAD v4 COSMIC |
| 17 | g.7673732G= | CA2245948726 | TP53 | c.888C= (p.His296=) c.492C= (p.His164=) c.609C= (p.His203=) c.867C= (p.His289=) c.782+449C= (n.782+449C=) c.771C= (p.His257=) c.411C= (p.His137=) c.855C= (p.His285=) | |
| 17 | g.7673732G>T | CA397836469 | TP53 | c.888C>A (p.His296Gln) c.492C>A (p.His164Gln) c.609C>A (p.His203Gln) c.867C>A (p.His289Gln) c.782+449C>A (n.782+449C>A) c.771C>A (p.His257Gln) c.411C>A (p.His137Gln) c.855C>A (p.His285Gln) | dbSNP |
| 17 | g.7673733_7673736dup | CA645588308 | TP53 | c.885_888dup (p.His297SerfsTer10) c.489_492dup (p.His165SerfsTer10) c.606_609dup (p.His204SerfsTer10) c.864_867dup (p.His290SerfsTer10) c.782+446_782+449dup (n.782+446_782+449dup) c.768_771dup (p.His258SerfsTer10) c.408_411dup (p.His138SerfsTer10) c.852_855dup (p.His286SerfsTer10) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673732_7673747del | CA645588307 | TP53 | c.873_888del (p.Lys291AsnfsTer?) c.477_492del (p.Lys159AsnfsTer?) c.594_609del (p.Lys198AsnfsTer?) c.852_867del (p.Lys284AsnfsTer?) c.782+434_782+449del (n.782+434_782+449del) c.756_771del (p.Lys252AsnfsTer?) c.396_411del (p.Lys132AsnfsTer?) c.840_855del (p.Lys280AsnfsTer?) | COSMIC |
| 17 | g.7673733T>A | CA397836474 | TP53 | c.887A>T (p.His296Leu) c.491A>T (p.His164Leu) c.608A>T (p.His203Leu) c.866A>T (p.His289Leu) c.782+448A>T (n.782+448A>T) c.770A>T (p.His257Leu) c.410A>T (p.His137Leu) c.854A>T (p.His285Leu) | dbSNP COSMIC |
| 17 | g.7673733T>C | CA000476 | TP53 | c.887A>G (p.His296Arg) c.491A>G (p.His164Arg) c.608A>G (p.His203Arg) c.866A>G (p.His289Arg) c.782+448A>G (n.782+448A>G) c.770A>G (p.His257Arg) c.410A>G (p.His137Arg) c.854A>G (p.His285Arg) | ClinVar dbSNP COSMIC |
| 17 | g.7673733T>G | CA397836477 | TP53 | c.887A>C (p.His296Pro) c.491A>C (p.His164Pro) c.608A>C (p.His203Pro) c.866A>C (p.His289Pro) c.782+448A>C (n.782+448A>C) c.770A>C (p.His257Pro) c.410A>C (p.His137Pro) c.854A>C (p.His285Pro) | dbSNP COSMIC |
| 17 | g.7673733T= | CA2245948734 | TP53 | c.887A= (p.His296=) c.491A= (p.His164=) c.608A= (p.His203=) c.866A= (p.His289=) c.782+448A= (n.782+448A=) c.770A= (p.His257=) c.410A= (p.His137=) c.854A= (p.His285=) | |
| 17 | g.7673734del | CA497715574 | TP53 | c.886del (p.His296ThrfsTer?) c.490del (p.His164ThrfsTer?) c.607del (p.His203ThrfsTer?) c.865del (p.His289ThrfsTer?) c.782+447del (n.782+447del) c.769del (p.His257ThrfsTer?) c.409del (p.His137ThrfsTer?) c.853del (p.His285ThrfsTer?) | COSMIC |
| 17 | g.7673734G>A | CA000474 | TP53 | c.886C>T (p.His296Tyr) c.490C>T (p.His164Tyr) c.607C>T (p.His203Tyr) c.865C>T (p.His289Tyr) c.782+447C>T (n.782+447C>T) c.769C>T (p.His257Tyr) c.409C>T (p.His137Tyr) c.853C>T (p.His285Tyr) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673734G>C | CA397836484 | TP53 | c.886C>G (p.His296Asp) c.490C>G (p.His164Asp) c.607C>G (p.His203Asp) c.865C>G (p.His289Asp) c.782+447C>G (n.782+447C>G) c.769C>G (p.His257Asp) c.409C>G (p.His137Asp) c.853C>G (p.His285Asp) | dbSNP |
| 17 | g.7673734G= | CA2245948740 | TP53 | c.886C= (p.His296=) c.490C= (p.His164=) c.607C= (p.His203=) c.865C= (p.His289=) c.782+447C= (n.782+447C=) c.769C= (p.His257=) c.409C= (p.His137=) c.853C= (p.His285=) | |
| 17 | g.7673734G>T | CA397836485 | TP53 | c.886C>A (p.His296Asn) c.490C>A (p.His164Asn) c.607C>A (p.His203Asn) c.865C>A (p.His289Asn) c.782+447C>A (n.782+447C>A) c.769C>A (p.His257Asn) c.409C>A (p.His137Asn) c.853C>A (p.His285Asn) | COSMIC |
| 17 | g.7673734_7673737del | CA2733133873 | TP53 | c.883_886del (p.Pro295ThrfsTer?) c.487_490del (p.Pro163ThrfsTer?) c.604_607del (p.Pro202ThrfsTer?) c.862_865del (p.Pro288ThrfsTer?) c.782+444_782+447del (n.782+444_782+447del) c.766_769del (p.Pro256ThrfsTer?) c.406_409del (p.Pro136ThrfsTer?) c.850_853del (p.Pro284ThrfsTer?) | dbSNP |
| 17 | g.7673735A= | CA2245948749 | TP53 | c.885T= (p.Pro295=) c.489T= (p.Pro163=) c.606T= (p.Pro202=) c.864T= (p.Pro288=) c.782+446T= (n.782+446T=) c.768T= (p.Pro256=) c.408T= (p.Pro136=) c.852T= (p.Pro284=) | |
| 17 | g.7673735A>C | CA497715580 | TP53 | c.885T>G (p.Pro295=) c.489T>G (p.Pro163=) c.606T>G (p.Pro202=) c.864T>G (p.Pro288=) c.782+446T>G (n.782+446T>G) c.768T>G (p.Pro256=) c.408T>G (p.Pro136=) c.852T>G (p.Pro284=) | |
| 17 | g.7673735A>G | CA000472 | TP53 | c.885T>C (p.Pro295=) c.489T>C (p.Pro163=) c.606T>C (p.Pro202=) c.864T>C (p.Pro288=) c.782+446T>C (n.782+446T>C) c.768T>C (p.Pro256=) c.408T>C (p.Pro136=) c.852T>C (p.Pro284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7673735A>T | CA497715583 | TP53 | c.885T>A (p.Pro295=) c.489T>A (p.Pro163=) c.606T>A (p.Pro202=) c.864T>A (p.Pro288=) c.782+446T>A (n.782+446T>A) c.768T>A (p.Pro256=) c.408T>A (p.Pro136=) c.852T>A (p.Pro284=) | dbSNP |
| 17 | g.7673735dup | CA1139768297 | TP53 | c.885dup (p.His296SerfsTer10) c.489dup (p.His164SerfsTer10) c.606dup (p.His203SerfsTer10) c.864dup (p.His289SerfsTer10) c.782+446dup (n.782+446dup) c.768dup (p.His257SerfsTer10) c.408dup (p.His137SerfsTer10) c.852dup (p.His285SerfsTer10) | |
| 17 | g.7673736G>A | CA001416 | TP53 | c.884C>T (p.Pro295Leu) c.488C>T (p.Pro163Leu) c.605C>T (p.Pro202Leu) c.863C>T (p.Pro288Leu) c.782+445C>T (n.782+445C>T) c.767C>T (p.Pro256Leu) c.407C>T (p.Pro136Leu) c.851C>T (p.Pro284Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7673736G>C | CA397836491 | TP53 | c.884C>G (p.Pro295Arg) c.488C>G (p.Pro163Arg) c.605C>G (p.Pro202Arg) c.863C>G (p.Pro288Arg) c.782+445C>G (n.782+445C>G) c.767C>G (p.Pro256Arg) c.407C>G (p.Pro136Arg) c.851C>G (p.Pro284Arg) | dbSNP COSMIC |
| 17 | g.7673736G= | CA2245948762 | TP53 | c.884C= (p.Pro295=) c.488C= (p.Pro163=) c.605C= (p.Pro202=) c.863C= (p.Pro288=) c.782+445C= (n.782+445C=) c.767C= (p.Pro256=) c.407C= (p.Pro136=) c.851C= (p.Pro284=) |