| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7669589_7676614del | CA2499224945 | TP53 | c.-19_*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.7673592_7673702del | CA645587377 | TP53 | c.919+1_938del n.919+1_938del n.782+481_782+591del (p.=) c.523+1_542del c.802+1_821del c.442+1_461del n.886+1_905del | COSMIC |
| 17 | g.7673598_7673702del | CA645587380 | TP53 | c.919_931del n.919_931del n.782+480_782+584del (p.=) c.523_535del c.802_814del c.442_454del n.886_898del | COSMIC |
| 17 | g.7673611_7673702del | CA2556749014 | TP53 | c.919+1_920-1del n.919+1_920-1del n.782+481_782+572del (p.=) c.523+1_524-1del c.802+1_803-1del c.442+1_443-1del n.886+1_887-1del | |
| 17 | g.7673635_7673845del | CA645587395 | TP53 | c.783-8_920-27del n.783-8_920-27del n.782+336_782+546del (p.=) c.387-8_524-27del c.666-8_803-27del c.306-8_443-27del n.750-8_887-27del | COSMIC |
| 17 | g.7673648_7673717del | CA645587396 | TP53 | c.903_920-40del n.903_920-40del n.782+464_782+533del (p.=) c.507_524-40del c.786_803-40del c.426_443-40del n.870_887-40del | COSMIC |
| 17 | g.7673685_7673703delinsTGTCCTGCTTGCTTACCTC | CA2245948268 | TP53 | c.917_919+16delinsGAGGTAAGCAAGCAGGACA n.917_919+16delinsGAGGTAAGCAAGCAGGACA n.782+478_782+496delinsGAGGTAAGCAAGCAGGACA (p.=) c.521_523+16delinsGAGGTAAGCAAGCAGGACA c.800_802+16delinsGAGGTAAGCAAGCAGGACA c.440_442+16delinsGAGGTAAGCAAGCAGGACA n.884_886+16delinsGAGGTAAGCAAGCAGGACA | |
| 17 | g.7673687_7673704del | CA915949519 | TP53 | c.917_919+15del n.917_919+15del n.782+478_782+495del (p.=) c.521_523+15del c.800_802+15del c.440_442+15del n.884_886+15del | ClinVar dbSNP |
| 17 | g.7673691_7673702del | CA645587404 | TP53 | c.919+2_919+13del n.919+2_919+13del n.782+482_782+493del (p.=) c.523+2_523+13del c.802+2_802+13del c.442+2_442+13del n.886+2_886+13del | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673690_7673703delinsTGCTTGCTTACCTC | CA2245948289 | TP53 | c.917_919+11delinsGAGGTAAGCAAGCA n.917_919+11delinsGAGGTAAGCAAGCA n.782+478_782+491delinsGAGGTAAGCAAGCA (p.=) c.521_523+11delinsGAGGTAAGCAAGCA c.800_802+11delinsGAGGTAAGCAAGCA c.440_442+11delinsGAGGTAAGCAAGCA n.884_886+11delinsGAGGTAAGCAAGCA | |
| 17 | g.7673695_7673707del | CA658798699 | TP53 | c.917_919+10del n.917_919+10del n.782+478_782+490del (p.=) c.521_523+10del c.800_802+10del c.440_442+10del n.884_886+10del | ClinVar dbSNP |
| 17 | g.7673694_7673703delinsTGCTTACCTC | CA2245948319 | TP53 | c.917_919+7delinsGAGGTAAGCA n.917_919+7delinsGAGGTAAGCA n.782+478_782+487delinsGAGGTAAGCA (p.=) c.521_523+7delinsGAGGTAAGCA c.800_802+7delinsGAGGTAAGCA c.440_442+7delinsGAGGTAAGCA n.884_886+7delinsGAGGTAAGCA | |
| 17 | g.7673700_7673708del | CA891844040 | TP53 | c.917_919+6del n.917_919+6del n.782+478_782+486del (p.=) c.521_523+6del c.800_802+6del c.440_442+6del n.884_886+6del | ClinVar dbSNP |
| 17 | g.7673700C>A | CA397836242 | TP53 | c.919+1G>T (p.=) n.919+1G>T (p.=) n.782+481G>T (p.=) c.523+1G>T (p.=) c.802+1G>T (p.=) c.442+1G>T (p.=) n.886+1G>T (p.=) | ClinVar COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673700C= | CA2245948372 | TP53 | c.919+1G= (p.=) n.919+1G= (p.=) n.782+481G= (p.=) c.523+1G= (p.=) c.802+1G= (p.=) c.442+1G= (p.=) n.886+1G= (p.=) | |
| 17 | g.7673700C>G | CA397836244 | TP53 | c.919+1G>C (p.=) n.919+1G>C (p.=) n.782+481G>C (p.=) c.523+1G>C (p.=) c.802+1G>C (p.=) c.442+1G>C (p.=) n.886+1G>C (p.=) | ClinVar COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673700C>T | CA397836247 | TP53 | c.919+1G>A (p.=) n.919+1G>A (p.=) n.782+481G>A (p.=) c.523+1G>A (p.=) c.802+1G>A (p.=) c.442+1G>A (p.=) n.886+1G>A (p.=) | ClinVar COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673701del | CA497715326 | TP53 | c.919+1del n.919+1del n.782+481del (p.=) c.523+1del c.802+1del c.442+1del n.886+1del | ClinVar COSMIC |
| 17 | g.7673701C>A | CA397836255 | TP53 | c.919G>T (p.Ala307Ser) n.919G>T (p.Ala307Ser) n.782+480G>T (p.=) c.523G>T (p.Ala175Ser) c.802G>T (p.Ala268Ser) c.442G>T (p.Ala148Ser) n.886G>T (p.Ala296Ser) | COSMIC |
| 17 | g.7673701C>G | CA397836258 | TP53 | c.919G>C (p.Ala307Pro) n.919G>C (p.Ala307Pro) n.782+480G>C (p.=) c.523G>C (p.Ala175Pro) c.802G>C (p.Ala268Pro) c.442G>C (p.Ala148Pro) n.886G>C (p.Ala296Pro) | |
| 17 | g.7673701C>T | CA397836252 | TP53 | c.919G>A (p.Ala307Thr) n.919G>A (p.Ala307Thr) n.782+480G>A (p.=) c.523G>A (p.Ala175Thr) c.802G>A (p.Ala268Thr) c.442G>A (p.Ala148Thr) n.886G>A (p.Ala296Thr) | COSMIC |
| 17 | g.7673702_7673703del | CA645587409 | TP53 | c.918_919del (p.Ala307ThrfsTer29) n.918_919del (p.Ala307ThrfsTer?) n.782+479_782+480del (p.=) c.918_919del (p.Ala307ThrfsTer?) c.918_919del (p.Ala307ThrfsTer28) c.522_523del (p.Ala175ThrfsTer28) c.522_523del (p.Ala175ThrfsTer29) c.522_523del (p.Ala175ThrfsTer?) c.801_802del (p.Ala268ThrfsTer29) c.801_802del (p.Ala268ThrfsTer28) c.441_442del (p.Ala148ThrfsTer28) n.885_886del (p.Ala296ThrfsTer29) c.441_442del (p.Ala148ThrfsTer?) c.441_442del (p.Ala148ThrfsTer29) c.801_802del (p.Ala268ThrfsTer?) | COSMIC COSMIC |
| 17 | g.7673705_7673729dup | CA916081896 | TP53 | c.895_919dup (p.Leu308AlafsTer6) n.895_919dup (p.Leu308AlafsTer6) n.782+456_782+480dup (p.=) c.499_523dup (p.Leu176AlafsTer6) c.778_802dup (p.Leu269AlafsTer6) c.418_442dup (p.Leu149AlafsTer6) n.862_886dup (p.Leu297AlafsTer6) | ClinVar dbSNP |
| 17 | g.7673701_7673702insCG | CA645587413 | TP53 | c.918_919insCG (p.Ala307ArgfsTer?) n.918_919insCG (p.Ala307ArgfsTer?) n.782+479_782+480insCG (p.=) c.522_523insCG (p.Ala175ArgfsTer?) c.801_802insCG (p.Ala268ArgfsTer?) c.441_442insCG (p.Ala148ArgfsTer?) n.885_886insCG (p.Ala296ArgfsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673702T>A | CA497715338 | TP53 | c.918A>T (p.Arg306=) n.918A>T (p.Arg306=) n.782+479A>T (p.=) c.522A>T (p.Arg174=) c.801A>T (p.Arg267=) c.441A>T (p.Arg147=) n.885A>T (p.Arg295=) | COSMIC |
| 17 | g.7673702T>C | CA497715340 | TP53 | c.918A>G (p.Arg306=) n.918A>G (p.Arg306=) n.782+479A>G (p.=) c.522A>G (p.Arg174=) c.801A>G (p.Arg267=) c.441A>G (p.Arg147=) n.885A>G (p.Arg295=) | |
| 17 | g.7673702T>G | CA497715341 | TP53 | c.918A>C (p.Arg306=) n.918A>C (p.Arg306=) n.782+479A>C (p.=) c.522A>C (p.Arg174=) c.801A>C (p.Arg267=) c.441A>C (p.Arg147=) n.885A>C (p.Arg295=) | |
| 17 | g.7673702_7673703insAAGGAGT | CA645587410 | TP53 | c.918_919insCTCCTTA (p.Ala307LeufsTer32) n.918_919insCTCCTTA (p.Ala307LeufsTer?) n.782+479_782+480insCTCCTTA (p.=) c.918_919insCTCCTTA (p.Ala307LeufsTer?) c.918_919insCTCCTTA (p.Ala307LeufsTer31) c.522_523insCTCCTTA (p.Ala175LeufsTer31) c.522_523insCTCCTTA (p.Ala175LeufsTer32) c.522_523insCTCCTTA (p.Ala175LeufsTer?) c.801_802insCTCCTTA (p.Ala268LeufsTer32) c.801_802insCTCCTTA (p.Ala268LeufsTer31) c.441_442insCTCCTTA (p.Ala148LeufsTer31) n.885_886insCTCCTTA (p.Ala296LeufsTer32) c.441_442insCTCCTTA (p.Ala148LeufsTer?) c.441_442insCTCCTTA (p.Ala148LeufsTer32) c.801_802insCTCCTTA (p.Ala268LeufsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673702dup | CA645587411 | TP53 | c.918dup (p.Ala307SerfsTer30) n.918dup (p.Ala307SerfsTer?) n.782+479dup (p.=) c.918dup (p.Ala307SerfsTer?) c.918dup (p.Ala307SerfsTer29) c.522dup (p.Ala175SerfsTer29) c.522dup (p.Ala175SerfsTer30) c.522dup (p.Ala175SerfsTer?) c.801dup (p.Ala268SerfsTer30) c.801dup (p.Ala268SerfsTer29) c.441dup (p.Ala148SerfsTer29) n.885dup (p.Ala296SerfsTer30) c.441dup (p.Ala148SerfsTer?) c.441dup (p.Ala148SerfsTer30) c.801dup (p.Ala268SerfsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673703C>A | CA397836260 | TP53 | c.917G>T (p.Arg306Leu) n.917G>T (p.Arg306Leu) n.782+478G>T (p.=) c.521G>T (p.Arg174Leu) c.800G>T (p.Arg267Leu) c.440G>T (p.Arg147Leu) n.884G>T (p.Arg295Leu) | |
| 17 | g.7673703C= | CA2245948393 | TP53 | c.917G= (p.Arg306=) n.917G= (p.Arg306=) n.782+478G= (p.=) c.521G= (p.Arg174=) c.800G= (p.Arg267=) c.440G= (p.Arg147=) n.884G= (p.Arg295=) | |
| 17 | g.7673703C>G | CA397836262 | TP53 | c.917G>C (p.Arg306Pro) n.917G>C (p.Arg306Pro) n.782+478G>C (p.=) c.521G>C (p.Arg174Pro) c.800G>C (p.Arg267Pro) c.440G>C (p.Arg147Pro) n.884G>C (p.Arg295Pro) | |
| 17 | g.7673703C>T | CA287486566 | TP53 | c.917G>A (p.Arg306Gln) n.917G>A (p.Arg306Gln) n.782+478G>A (p.=) c.521G>A (p.Arg174Gln) c.800G>A (p.Arg267Gln) c.440G>A (p.Arg147Gln) n.884G>A (p.Arg295Gln) | ClinVar dbSNP gnomAD |
| 17 | g.7673703_7673704insCTTA | CA645587415 | TP53 | c.916_917insTAAG (p.Arg306LeufsTer?) n.916_917insTAAG (p.Arg306LeufsTer?) n.782+477_782+478insTAAG (p.=) c.916_917insTAAG (p.Arg306LeufsTer31) c.520_521insTAAG (p.Arg174LeufsTer31) c.520_521insTAAG (p.Arg174LeufsTer?) c.799_800insTAAG (p.Arg267LeufsTer?) c.799_800insTAAG (p.Arg267LeufsTer31) c.439_440insTAAG (p.Arg147LeufsTer31) n.883_884insTAAG (p.Arg295LeufsTer?) c.439_440insTAAG (p.Arg147LeufsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673704del | CA497715354 | TP53 | c.916del (p.Arg306GlufsTer?) n.916del (p.Arg306GlufsTer?) n.782+477del (p.=) c.520del (p.Arg174GlufsTer?) c.799del (p.Arg267GlufsTer?) c.439del (p.Arg147GlufsTer?) n.883del (p.Arg295GlufsTer?) | COSMIC |
| 17 | g.7673704G>A | CA000495 | TP53 | c.916C>T (p.Arg306Ter) n.916C>T (p.Arg306Ter) n.782+477C>T (p.=) c.520C>T (p.Arg174Ter) c.799C>T (p.Arg267Ter) c.439C>T (p.Arg147Ter) n.883C>T (p.Arg295Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673704G>C | CA397836267 | TP53 | c.916C>G (p.Arg306Gly) n.916C>G (p.Arg306Gly) n.782+477C>G (p.=) c.520C>G (p.Arg174Gly) c.799C>G (p.Arg267Gly) c.439C>G (p.Arg147Gly) n.883C>G (p.Arg295Gly) | |
| 17 | g.7673704G= | CA2245948417 | TP53 | c.916C= (p.Arg306=) n.916C= (p.Arg306=) n.782+477C= (p.=) c.520C= (p.Arg174=) c.799C= (p.Arg267=) c.439C= (p.Arg147=) n.883C= (p.Arg295=) | |
| 17 | g.7673704G>T | CA497715351 | TP53 | c.916C>A (p.Arg306=) n.916C>A (p.Arg306=) n.782+477C>A (p.=) c.520C>A (p.Arg174=) c.799C>A (p.Arg267=) c.439C>A (p.Arg147=) n.883C>A (p.Arg295=) | ClinVar |
| 17 | g.7673704_7673711dup | CA915949520 | TP53 | c.909_916dup (p.Arg306ProfsTer?) n.909_916dup (p.Arg306ProfsTer?) n.782+470_782+477dup (p.=) c.513_520dup (p.Arg174ProfsTer?) c.792_799dup (p.Arg267ProfsTer?) c.432_439dup (p.Arg147ProfsTer?) n.876_883dup (p.Arg295ProfsTer?) | ClinVar dbSNP |
| 17 | g.7673705_7673827del | CA645587414 | TP53 | c.794_916del (p.Leu265_Lys305del) n.794_916del (p.Leu265_Lys305del) n.782+355_782+477del (p.=) c.398_520del (p.Leu133_Lys173del) c.677_799del (p.Leu226_Lys266del) c.317_439del (p.Leu106_Lys146del) n.761_883del (p.Leu254_Lys294del) | COSMIC |
| 17 | g.7673705C>A | CA397836273 | TP53 | c.915G>T (p.Lys305Asn) n.915G>T (p.Lys305Asn) n.782+476G>T (p.=) c.519G>T (p.Lys173Asn) c.798G>T (p.Lys266Asn) c.438G>T (p.Lys146Asn) n.882G>T (p.Lys294Asn) | COSMIC |
| 17 | g.7673705C>G | CA397836270 | TP53 | c.915G>C (p.Lys305Asn) n.915G>C (p.Lys305Asn) n.782+476G>C (p.=) c.519G>C (p.Lys173Asn) c.798G>C (p.Lys266Asn) c.438G>C (p.Lys146Asn) n.882G>C (p.Lys294Asn) | COSMIC |
| 17 | g.7673705C>T | CA497715358 | TP53 | c.915G>A (p.Lys305=) n.915G>A (p.Lys305=) n.782+476G>A (p.=) c.519G>A (p.Lys173=) c.798G>A (p.Lys266=) c.438G>A (p.Lys146=) n.882G>A (p.Lys294=) | COSMIC |
| 17 | g.7673705_7673707delinsTTA | CA645587416 | TP53 | c.913_915delinsTAA (p.Lys305Ter) n.913_915delinsTAA (p.Lys305Ter) n.782+474_782+476delinsTAA (p.=) c.517_519delinsTAA (p.Lys173Ter) c.796_798delinsTAA (p.Lys266Ter) c.436_438delinsTAA (p.Lys146Ter) n.880_882delinsTAA (p.Lys294Ter) | COSMIC |
| 17 | g.7673706T>A | CA397836276 | TP53 | c.914A>T (p.Lys305Met) n.914A>T (p.Lys305Met) n.782+475A>T (p.=) c.518A>T (p.Lys173Met) c.797A>T (p.Lys266Met) c.437A>T (p.Lys146Met) n.881A>T (p.Lys294Met) | |
| 17 | g.7673706T>C | CA397836278 | TP53 | c.914A>G (p.Lys305Arg) n.914A>G (p.Lys305Arg) n.782+475A>G (p.=) c.518A>G (p.Lys173Arg) c.797A>G (p.Lys266Arg) c.437A>G (p.Lys146Arg) n.881A>G (p.Lys294Arg) | COSMIC |
| 17 | g.7673706T>G | CA397836279 | TP53 | c.914A>C (p.Lys305Thr) n.914A>C (p.Lys305Thr) n.782+475A>C (p.=) c.518A>C (p.Lys173Thr) c.797A>C (p.Lys266Thr) c.437A>C (p.Lys146Thr) n.881A>C (p.Lys294Thr) | COSMIC |
| 17 | g.7673707del | CA891842225 | TP53 | c.914del (p.Lys305SerfsTer?) n.914del (p.Lys305SerfsTer?) n.782+475del (p.=) c.518del (p.Lys173SerfsTer?) c.797del (p.Lys266SerfsTer?) c.437del (p.Lys146SerfsTer?) n.881del (p.Lys294SerfsTer?) | |
| 17 | g.7673707T>A | CA397836281 | TP53 | c.913A>T (p.Lys305Ter) n.913A>T (p.Lys305Ter) n.782+474A>T (p.=) c.517A>T (p.Lys173Ter) c.796A>T (p.Lys266Ter) c.436A>T (p.Lys146Ter) n.880A>T (p.Lys294Ter) | ClinVar COSMIC COSMIC COSMIC COSMIC |