| 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.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.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.7673611_7673702del | CA2556749014 | TP53 | c.919+1_920-1del c.523+1_524-1del c.640+1_641-1del c.898+1_899-1del c.782+481_782+572del (n.782+481_782+572del) c.802+1_803-1del c.442+1_443-1del c.886+1_887-1del | |
| 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.7673648_7673717del | CA645587396 | TP53 | c.903_920-40del c.507_524-40del c.624_641-40del c.882_899-40del c.782+464_782+533del (n.782+464_782+533del) c.786_803-40del c.426_443-40del c.870_887-40del | COSMIC |
| 17 | g.7673685_7673703delinsTGTCCTGCTTGCTTACCTC | CA2245948268 | TP53 | c.917_919+16delinsGAGGTAAGCAAGCAGGACA c.521_523+16delinsGAGGTAAGCAAGCAGGACA c.638_640+16delinsGAGGTAAGCAAGCAGGACA c.896_898+16delinsGAGGTAAGCAAGCAGGACA c.782+478_782+496delinsGAGGTAAGCAAGCAGGACA (n.782+478_782+496delinsGAGGTAAGCAAGCAGGACA) c.800_802+16delinsGAGGTAAGCAAGCAGGACA c.440_442+16delinsGAGGTAAGCAAGCAGGACA c.884_886+16delinsGAGGTAAGCAAGCAGGACA | |
| 17 | g.7673687_7673704del | CA915949519 | TP53 | c.917_919+15del c.521_523+15del c.638_640+15del c.896_898+15del c.782+478_782+495del (n.782+478_782+495del) c.800_802+15del c.440_442+15del c.884_886+15del | ClinVar dbSNP |
| 17 | g.7673691_7673702del | CA645587404 | TP53 | c.919+2_919+13del c.523+2_523+13del c.640+2_640+13del c.898+2_898+13del c.782+482_782+493del (n.782+482_782+493del) c.802+2_802+13del c.442+2_442+13del c.886+2_886+13del | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673690_7673703delinsTGCTTGCTTACCTC | CA2245948289 | TP53 | c.917_919+11delinsGAGGTAAGCAAGCA c.521_523+11delinsGAGGTAAGCAAGCA c.638_640+11delinsGAGGTAAGCAAGCA c.896_898+11delinsGAGGTAAGCAAGCA c.782+478_782+491delinsGAGGTAAGCAAGCA (n.782+478_782+491delinsGAGGTAAGCAAGCA) c.800_802+11delinsGAGGTAAGCAAGCA c.440_442+11delinsGAGGTAAGCAAGCA c.884_886+11delinsGAGGTAAGCAAGCA | |
| 17 | g.7673695_7673707del | CA658798699 | TP53 | c.917_919+10del c.521_523+10del c.638_640+10del c.896_898+10del c.782+478_782+490del (n.782+478_782+490del) c.800_802+10del c.440_442+10del c.884_886+10del | ClinVar dbSNP |
| 17 | g.7673694_7673703delinsTGCTTACCTC | CA2245948319 | TP53 | c.917_919+7delinsGAGGTAAGCA c.521_523+7delinsGAGGTAAGCA c.638_640+7delinsGAGGTAAGCA c.896_898+7delinsGAGGTAAGCA c.782+478_782+487delinsGAGGTAAGCA (n.782+478_782+487delinsGAGGTAAGCA) c.800_802+7delinsGAGGTAAGCA c.440_442+7delinsGAGGTAAGCA c.884_886+7delinsGAGGTAAGCA | |
| 17 | g.7673700_7673708del | CA891844040 | TP53 | c.917_919+6del c.521_523+6del c.638_640+6del c.896_898+6del c.782+478_782+486del (n.782+478_782+486del) c.800_802+6del c.440_442+6del c.884_886+6del | ClinVar dbSNP |
| 17 | g.7673700C>A | CA397836242 | TP53 | c.919+1G>T (n.919+1G>T) c.523+1G>T (n.523+1G>T) c.640+1G>T (n.640+1G>T) c.898+1G>T (n.898+1G>T) c.782+481G>T (n.782+481G>T) c.802+1G>T (n.802+1G>T) c.442+1G>T (n.442+1G>T) c.886+1G>T (n.886+1G>T) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673700C= | CA2245948372 | TP53 | c.919+1G= (n.919+1G=) c.523+1G= (n.523+1G=) c.640+1G= (n.640+1G=) c.898+1G= (n.898+1G=) c.782+481G= (n.782+481G=) c.802+1G= (n.802+1G=) c.442+1G= (n.442+1G=) c.886+1G= (n.886+1G=) | |
| 17 | g.7673700C>G | CA397836244 | TP53 | c.919+1G>C (n.919+1G>C) c.523+1G>C (n.523+1G>C) c.640+1G>C (n.640+1G>C) c.898+1G>C (n.898+1G>C) c.782+481G>C (n.782+481G>C) c.802+1G>C (n.802+1G>C) c.442+1G>C (n.442+1G>C) c.886+1G>C (n.886+1G>C) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673700C>T | CA397836247 | TP53 | c.919+1G>A (n.919+1G>A) c.523+1G>A (n.523+1G>A) c.640+1G>A (n.640+1G>A) c.898+1G>A (n.898+1G>A) c.782+481G>A (n.782+481G>A) c.802+1G>A (n.802+1G>A) c.442+1G>A (n.442+1G>A) c.886+1G>A (n.886+1G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673701del | CA497715326 | TP53 | c.919+1del c.523+1del c.640+1del c.898+1del c.782+481del (n.782+481del) c.802+1del c.442+1del c.886+1del | ClinVar dbSNP COSMIC |
| 17 | g.7673701C>A | CA397836255 | TP53 | c.919G>T (p.Ala307Ser) c.523G>T (p.Ala175Ser) c.640G>T (p.Ala214Ser) c.898G>T (p.Ala300Ser) c.782+480G>T (n.782+480G>T) c.802G>T (p.Ala268Ser) c.442G>T (p.Ala148Ser) c.886G>T (p.Ala296Ser) | dbSNP COSMIC |
| 17 | g.7673701C>G | CA397836258 | TP53 | c.919G>C (p.Ala307Pro) c.523G>C (p.Ala175Pro) c.640G>C (p.Ala214Pro) c.898G>C (p.Ala300Pro) c.782+480G>C (n.782+480G>C) c.802G>C (p.Ala268Pro) c.442G>C (p.Ala148Pro) c.886G>C (p.Ala296Pro) | ClinVar dbSNP |
| 17 | g.7673701C>T | CA397836252 | TP53 | c.919G>A (p.Ala307Thr) c.523G>A (p.Ala175Thr) c.640G>A (p.Ala214Thr) c.898G>A (p.Ala300Thr) c.782+480G>A (n.782+480G>A) c.802G>A (p.Ala268Thr) c.442G>A (p.Ala148Thr) c.886G>A (p.Ala296Thr) | dbSNP COSMIC |
| 17 | g.7673702_7673703del | CA645587409 | TP53 | c.918_919del (p.Ala307ThrfsTer29) c.522_523del (p.Ala175ThrfsTer29) c.639_640del (p.Ala214ThrfsTer29) c.897_898del (p.Ala300ThrfsTer29) c.918_919del (p.Ala307ThrfsTer?) c.782+479_782+480del (n.782+479_782+480del) c.918_919del (p.Ala307ThrfsTer28) c.522_523del (p.Ala175ThrfsTer28) c.522_523del (p.Ala175ThrfsTer?) c.801_802del (p.Ala268ThrfsTer29) c.801_802del (p.Ala268ThrfsTer28) c.441_442del (p.Ala148ThrfsTer28) c.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) c.499_523dup (p.Leu176AlafsTer6) c.616_640dup (p.Leu215AlafsTer6) c.874_898dup (p.Leu301AlafsTer6) c.782+456_782+480dup (n.782+456_782+480dup) c.778_802dup (p.Leu269AlafsTer6) c.418_442dup (p.Leu149AlafsTer6) c.862_886dup (p.Leu297AlafsTer6) | ClinVar dbSNP |
| 17 | g.7673701_7673702insCG | CA645587413 | TP53 | c.918_919insCG (p.Ala307ArgfsTer?) c.522_523insCG (p.Ala175ArgfsTer?) c.639_640insCG (p.Ala214ArgfsTer?) c.897_898insCG (p.Ala300ArgfsTer?) c.782+479_782+480insCG (n.782+479_782+480insCG) c.801_802insCG (p.Ala268ArgfsTer?) c.441_442insCG (p.Ala148ArgfsTer?) c.885_886insCG (p.Ala296ArgfsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673702T>A | CA497715338 | TP53 | c.918A>T (p.Arg306=) c.522A>T (p.Arg174=) c.639A>T (p.Arg213=) c.897A>T (p.Arg299=) c.782+479A>T (n.782+479A>T) c.801A>T (p.Arg267=) c.441A>T (p.Arg147=) c.885A>T (p.Arg295=) | ClinVar dbSNP COSMIC |
| 17 | g.7673702T>C | CA497715340 | TP53 | c.918A>G (p.Arg306=) c.522A>G (p.Arg174=) c.639A>G (p.Arg213=) c.897A>G (p.Arg299=) c.782+479A>G (n.782+479A>G) c.801A>G (p.Arg267=) c.441A>G (p.Arg147=) c.885A>G (p.Arg295=) | dbSNP gnomAD v4 |
| 17 | g.7673702T>G | CA497715341 | TP53 | c.918A>C (p.Arg306=) c.522A>C (p.Arg174=) c.639A>C (p.Arg213=) c.897A>C (p.Arg299=) c.782+479A>C (n.782+479A>C) c.801A>C (p.Arg267=) c.441A>C (p.Arg147=) c.885A>C (p.Arg295=) | |
| 17 | g.7673702_7673703insAAGGAGT | CA645587410 | TP53 | c.918_919insCTCCTTA (p.Ala307LeufsTer32) c.522_523insCTCCTTA (p.Ala175LeufsTer32) c.639_640insCTCCTTA (p.Ala214LeufsTer32) c.897_898insCTCCTTA (p.Ala300LeufsTer32) c.918_919insCTCCTTA (p.Ala307LeufsTer?) c.782+479_782+480insCTCCTTA (n.782+479_782+480insCTCCTTA) c.918_919insCTCCTTA (p.Ala307LeufsTer31) c.522_523insCTCCTTA (p.Ala175LeufsTer31) c.522_523insCTCCTTA (p.Ala175LeufsTer?) c.801_802insCTCCTTA (p.Ala268LeufsTer32) c.801_802insCTCCTTA (p.Ala268LeufsTer31) c.441_442insCTCCTTA (p.Ala148LeufsTer31) c.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) c.522dup (p.Ala175SerfsTer30) c.639dup (p.Ala214SerfsTer30) c.897dup (p.Ala300SerfsTer30) c.918dup (p.Ala307SerfsTer?) c.782+479dup (n.782+479dup) c.918dup (p.Ala307SerfsTer29) c.522dup (p.Ala175SerfsTer29) c.522dup (p.Ala175SerfsTer?) c.801dup (p.Ala268SerfsTer30) c.801dup (p.Ala268SerfsTer29) c.441dup (p.Ala148SerfsTer29) c.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) c.521G>T (p.Arg174Leu) c.638G>T (p.Arg213Leu) c.896G>T (p.Arg299Leu) c.782+478G>T (n.782+478G>T) c.800G>T (p.Arg267Leu) c.440G>T (p.Arg147Leu) c.884G>T (p.Arg295Leu) | dbSNP |
| 17 | g.7673703C= | CA2245948393 | TP53 | c.917G= (p.Arg306=) c.521G= (p.Arg174=) c.638G= (p.Arg213=) c.896G= (p.Arg299=) c.782+478G= (n.782+478G=) c.800G= (p.Arg267=) c.440G= (p.Arg147=) c.884G= (p.Arg295=) | |
| 17 | g.7673703C>G | CA397836262 | TP53 | c.917G>C (p.Arg306Pro) c.521G>C (p.Arg174Pro) c.638G>C (p.Arg213Pro) c.896G>C (p.Arg299Pro) c.782+478G>C (n.782+478G>C) c.800G>C (p.Arg267Pro) c.440G>C (p.Arg147Pro) c.884G>C (p.Arg295Pro) | dbSNP |
| 17 | g.7673703C>T | CA287486566 | TP53 | c.917G>A (p.Arg306Gln) c.521G>A (p.Arg174Gln) c.638G>A (p.Arg213Gln) c.896G>A (p.Arg299Gln) c.782+478G>A (n.782+478G>A) c.800G>A (p.Arg267Gln) c.440G>A (p.Arg147Gln) c.884G>A (p.Arg295Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7673704_7673716dup | CA2739265584 | TP53 | c.905_917dup (p.Ala307GlufsTer3) c.509_521dup (p.Ala175GlufsTer3) c.626_638dup (p.Ala214GlufsTer3) c.884_896dup (p.Ala300GlufsTer3) c.782+466_782+478dup (n.782+466_782+478dup) c.788_800dup (p.Ala268GlufsTer3) c.428_440dup (p.Ala148GlufsTer3) c.872_884dup (p.Ala296GlufsTer3) | |
| 17 | g.7673703_7673704insCTTA | CA645587415 | TP53 | c.916_917insTAAG (p.Arg306LeufsTer?) c.520_521insTAAG (p.Arg174LeufsTer?) c.637_638insTAAG (p.Arg213LeufsTer?) c.895_896insTAAG (p.Arg299LeufsTer?) c.782+477_782+478insTAAG (n.782+477_782+478insTAAG) c.916_917insTAAG (p.Arg306LeufsTer31) c.520_521insTAAG (p.Arg174LeufsTer31) c.799_800insTAAG (p.Arg267LeufsTer?) c.799_800insTAAG (p.Arg267LeufsTer31) c.439_440insTAAG (p.Arg147LeufsTer31) c.883_884insTAAG (p.Arg295LeufsTer?) c.439_440insTAAG (p.Arg147LeufsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673704del | CA497715354 | TP53 | c.916del (p.Arg306GlufsTer?) c.520del (p.Arg174GlufsTer?) c.637del (p.Arg213GlufsTer?) c.895del (p.Arg299GlufsTer?) c.782+477del (n.782+477del) c.799del (p.Arg267GlufsTer?) c.439del (p.Arg147GlufsTer?) c.883del (p.Arg295GlufsTer?) | COSMIC |
| 17 | g.7673704G>A | CA000495 | TP53 | c.916C>T (p.Arg306Ter) c.520C>T (p.Arg174Ter) c.637C>T (p.Arg213Ter) c.895C>T (p.Arg299Ter) c.782+477C>T (n.782+477C>T) c.799C>T (p.Arg267Ter) c.439C>T (p.Arg147Ter) c.883C>T (p.Arg295Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673704G>C | CA397836267 | TP53 | c.916C>G (p.Arg306Gly) c.520C>G (p.Arg174Gly) c.637C>G (p.Arg213Gly) c.895C>G (p.Arg299Gly) c.782+477C>G (n.782+477C>G) c.799C>G (p.Arg267Gly) c.439C>G (p.Arg147Gly) c.883C>G (p.Arg295Gly) | dbSNP |
| 17 | g.7673704G= | CA2245948417 | TP53 | c.916C= (p.Arg306=) c.520C= (p.Arg174=) c.637C= (p.Arg213=) c.895C= (p.Arg299=) c.782+477C= (n.782+477C=) c.799C= (p.Arg267=) c.439C= (p.Arg147=) c.883C= (p.Arg295=) | |
| 17 | g.7673704G>T | CA497715351 | TP53 | c.916C>A (p.Arg306=) c.520C>A (p.Arg174=) c.637C>A (p.Arg213=) c.895C>A (p.Arg299=) c.782+477C>A (n.782+477C>A) c.799C>A (p.Arg267=) c.439C>A (p.Arg147=) c.883C>A (p.Arg295=) | ClinVar dbSNP |
| 17 | g.7673704_7673707del | CA2695224217 | TP53 | c.913_916del (p.Lys305GlufsTer?) c.517_520del (p.Lys173GlufsTer?) c.634_637del (p.Lys212GlufsTer?) c.892_895del (p.Lys298GlufsTer?) c.782+474_782+477del (n.782+474_782+477del) c.796_799del (p.Lys266GlufsTer?) c.436_439del (p.Lys146GlufsTer?) c.880_883del (p.Lys294GlufsTer?) | |
| 17 | g.7673704_7673707dup | CA2695224218 | TP53 | c.913_916dup (p.Arg306GlnfsTer?) c.517_520dup (p.Arg174GlnfsTer?) c.634_637dup (p.Arg213GlnfsTer?) c.892_895dup (p.Arg299GlnfsTer?) c.782+474_782+477dup (n.782+474_782+477dup) c.913_916dup (p.Arg306GlnfsTer31) c.517_520dup (p.Arg174GlnfsTer31) c.796_799dup (p.Arg267GlnfsTer?) c.796_799dup (p.Arg267GlnfsTer31) c.436_439dup (p.Arg147GlnfsTer31) c.880_883dup (p.Arg295GlnfsTer?) c.436_439dup (p.Arg147GlnfsTer?) | |
| 17 | g.7673704_7673711dup | CA915949520 | TP53 | c.909_916dup (p.Arg306ProfsTer?) c.513_520dup (p.Arg174ProfsTer?) c.630_637dup (p.Arg213ProfsTer?) c.888_895dup (p.Arg299ProfsTer?) c.782+470_782+477dup (n.782+470_782+477dup) c.792_799dup (p.Arg267ProfsTer?) c.432_439dup (p.Arg147ProfsTer?) c.876_883dup (p.Arg295ProfsTer?) | ClinVar dbSNP |
| 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.7673705C>A | CA397836273 | TP53 | c.915G>T (p.Lys305Asn) c.519G>T (p.Lys173Asn) c.636G>T (p.Lys212Asn) c.894G>T (p.Lys298Asn) c.782+476G>T (n.782+476G>T) c.798G>T (p.Lys266Asn) c.438G>T (p.Lys146Asn) c.882G>T (p.Lys294Asn) | COSMIC |
| 17 | g.7673705C>G | CA397836270 | TP53 | c.915G>C (p.Lys305Asn) c.519G>C (p.Lys173Asn) c.636G>C (p.Lys212Asn) c.894G>C (p.Lys298Asn) c.782+476G>C (n.782+476G>C) c.798G>C (p.Lys266Asn) c.438G>C (p.Lys146Asn) c.882G>C (p.Lys294Asn) | COSMIC |
| 17 | g.7673705C>T | CA497715358 | TP53 | c.915G>A (p.Lys305=) c.519G>A (p.Lys173=) c.636G>A (p.Lys212=) c.894G>A (p.Lys298=) c.782+476G>A (n.782+476G>A) c.798G>A (p.Lys266=) c.438G>A (p.Lys146=) c.882G>A (p.Lys294=) | ClinVar dbSNP COSMIC |
| 17 | g.7673705_7673707delinsTTA | CA645587416 | TP53 | c.913_915delinsTAA (p.Lys305Ter) c.517_519delinsTAA (p.Lys173Ter) c.634_636delinsTAA (p.Lys212Ter) c.892_894delinsTAA (p.Lys298Ter) c.782+474_782+476delinsTAA (n.782+474_782+476delinsTAA) c.796_798delinsTAA (p.Lys266Ter) c.436_438delinsTAA (p.Lys146Ter) c.880_882delinsTAA (p.Lys294Ter) | COSMIC |
| 17 | g.7673706T>A | CA397836276 | TP53 | c.914A>T (p.Lys305Met) c.518A>T (p.Lys173Met) c.635A>T (p.Lys212Met) c.893A>T (p.Lys298Met) c.782+475A>T (n.782+475A>T) c.797A>T (p.Lys266Met) c.437A>T (p.Lys146Met) c.881A>T (p.Lys294Met) | dbSNP |