| 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.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.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.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.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.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) | ClinVar |
| 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 |
| 17 | g.7673706T>C | CA397836278 | TP53 | c.914A>G (p.Lys305Arg) c.518A>G (p.Lys173Arg) c.635A>G (p.Lys212Arg) c.893A>G (p.Lys298Arg) c.782+475A>G (n.782+475A>G) c.797A>G (p.Lys266Arg) c.437A>G (p.Lys146Arg) c.881A>G (p.Lys294Arg) | dbSNP gnomAD v4 COSMIC |
| 17 | g.7673706T>G | CA397836279 | TP53 | c.914A>C (p.Lys305Thr) c.518A>C (p.Lys173Thr) c.635A>C (p.Lys212Thr) c.893A>C (p.Lys298Thr) c.782+475A>C (n.782+475A>C) c.797A>C (p.Lys266Thr) c.437A>C (p.Lys146Thr) c.881A>C (p.Lys294Thr) | COSMIC |
| 17 | g.7673707del | CA891842225 | TP53 | c.914del (p.Lys305SerfsTer?) c.518del (p.Lys173SerfsTer?) c.635del (p.Lys212SerfsTer?) c.893del (p.Lys298SerfsTer?) c.782+475del (n.782+475del) c.797del (p.Lys266SerfsTer?) c.437del (p.Lys146SerfsTer?) c.881del (p.Lys294SerfsTer?) | |
| 17 | g.7673707T>A | CA397836281 | TP53 | c.913A>T (p.Lys305Ter) c.517A>T (p.Lys173Ter) c.634A>T (p.Lys212Ter) c.892A>T (p.Lys298Ter) c.782+474A>T (n.782+474A>T) c.796A>T (p.Lys266Ter) c.436A>T (p.Lys146Ter) c.880A>T (p.Lys294Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673707T>C | CA397836283 | TP53 | c.913A>G (p.Lys305Glu) c.517A>G (p.Lys173Glu) c.634A>G (p.Lys212Glu) c.892A>G (p.Lys298Glu) c.782+474A>G (n.782+474A>G) c.796A>G (p.Lys266Glu) c.436A>G (p.Lys146Glu) c.880A>G (p.Lys294Glu) | dbSNP COSMIC |
| 17 | g.7673707T>G | CA397836286 | TP53 | c.913A>C (p.Lys305Gln) c.517A>C (p.Lys173Gln) c.634A>C (p.Lys212Gln) c.892A>C (p.Lys298Gln) c.782+474A>C (n.782+474A>C) c.796A>C (p.Lys266Gln) c.436A>C (p.Lys146Gln) c.880A>C (p.Lys294Gln) | dbSNP |
| 17 | g.7673707T= | CA2245948423 | TP53 | c.913A= (p.Lys305=) c.517A= (p.Lys173=) c.634A= (p.Lys212=) c.892A= (p.Lys298=) c.782+474A= (n.782+474A=) c.796A= (p.Lys266=) c.436A= (p.Lys146=) c.880A= (p.Lys294=) | |
| 17 | g.7673708A= | CA2245948439 | TP53 | c.912T= (p.Thr304=) c.516T= (p.Thr172=) c.633T= (p.Thr211=) c.891T= (p.Thr297=) c.782+473T= (n.782+473T=) c.795T= (p.Thr265=) c.435T= (p.Thr145=) c.879T= (p.Thr293=) | |
| 17 | g.7673708A>C | CA497715374 | TP53 | c.912T>G (p.Thr304=) c.516T>G (p.Thr172=) c.633T>G (p.Thr211=) c.891T>G (p.Thr297=) c.782+473T>G (n.782+473T>G) c.795T>G (p.Thr265=) c.435T>G (p.Thr145=) c.879T>G (p.Thr293=) | COSMIC |
| 17 | g.7673708A>G | CA497715375 | TP53 | c.912T>C (p.Thr304=) c.516T>C (p.Thr172=) c.633T>C (p.Thr211=) c.891T>C (p.Thr297=) c.782+473T>C (n.782+473T>C) c.795T>C (p.Thr265=) c.435T>C (p.Thr145=) c.879T>C (p.Thr293=) | ClinVar dbSNP |
| 17 | g.7673708A>T | CA497715376 | TP53 | c.912T>A (p.Thr304=) c.516T>A (p.Thr172=) c.633T>A (p.Thr211=) c.891T>A (p.Thr297=) c.782+473T>A (n.782+473T>A) c.795T>A (p.Thr265=) c.435T>A (p.Thr145=) c.879T>A (p.Thr293=) | dbSNP |
| 17 | g.7673708dup | CA913188786 | TP53 | c.912dup (p.Lys305Ter) c.516dup (p.Lys173Ter) c.633dup (p.Lys212Ter) c.891dup (p.Lys298Ter) c.782+473dup (n.782+473dup) c.795dup (p.Lys266Ter) c.435dup (p.Lys146Ter) c.879dup (p.Lys294Ter) | ClinVar dbSNP |
| 17 | g.7673708_7673710delinsAGT | CA2245948435 | TP53 | c.910_912delinsACT (p.Thr304=) c.514_516delinsACT (p.Thr172=) c.631_633delinsACT (p.Thr211=) c.889_891delinsACT (p.Thr297=) c.782+471_782+473delinsACT (n.782+471_782+473delinsACT) c.793_795delinsACT (p.Thr265=) c.433_435delinsACT (p.Thr145=) c.877_879delinsACT (p.Thr293=) | |
| 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.7673709del | CA645587418 | TP53 | c.911del (p.Thr304IlefsTer?) c.515del (p.Thr172IlefsTer?) c.632del (p.Thr211IlefsTer?) c.890del (p.Thr297IlefsTer?) c.782+472del (n.782+472del) c.794del (p.Thr265IlefsTer?) c.434del (p.Thr145IlefsTer?) c.878del (p.Thr293IlefsTer?) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673709G>A | CA397836290 | TP53 | c.911C>T (p.Thr304Ile) c.515C>T (p.Thr172Ile) c.632C>T (p.Thr211Ile) c.890C>T (p.Thr297Ile) c.782+472C>T (n.782+472C>T) c.794C>T (p.Thr265Ile) c.434C>T (p.Thr145Ile) c.878C>T (p.Thr293Ile) | ClinVar dbSNP COSMIC |
| 17 | g.7673709G>C | CA397836295 | TP53 | c.911C>G (p.Thr304Ser) c.515C>G (p.Thr172Ser) c.632C>G (p.Thr211Ser) c.890C>G (p.Thr297Ser) c.782+472C>G (n.782+472C>G) c.794C>G (p.Thr265Ser) c.434C>G (p.Thr145Ser) c.878C>G (p.Thr293Ser) | dbSNP |
| 17 | g.7673709G= | CA2245948452 | TP53 | c.911C= (p.Thr304=) c.515C= (p.Thr172=) c.632C= (p.Thr211=) c.890C= (p.Thr297=) c.782+472C= (n.782+472C=) c.794C= (p.Thr265=) c.434C= (p.Thr145=) c.878C= (p.Thr293=) | |
| 17 | g.7673709G>T | CA397836292 | TP53 | c.911C>A (p.Thr304Asn) c.515C>A (p.Thr172Asn) c.632C>A (p.Thr211Asn) c.890C>A (p.Thr297Asn) c.782+472C>A (n.782+472C>A) c.794C>A (p.Thr265Asn) c.434C>A (p.Thr145Asn) c.878C>A (p.Thr293Asn) | COSMIC |
| 17 | g.7673709_7673710delinsCCTTGCTTACCTC | CA1139665114 | TP53 | c.910_911delinsGAGGTAAGCAAGG (p.Thr304GlufsTer?) c.514_515delinsGAGGTAAGCAAGG (p.Thr172GlufsTer?) c.631_632delinsGAGGTAAGCAAGG (p.Thr211GlufsTer?) c.889_890delinsGAGGTAAGCAAGG (p.Thr297GlufsTer?) c.782+471_782+472delinsGAGGTAAGCAAGG (n.782+471_782+472delinsGAGGTAAGCAAGG) c.793_794delinsGAGGTAAGCAAGG (p.Thr265GlufsTer?) c.433_434delinsGAGGTAAGCAAGG (p.Thr145GlufsTer?) c.877_878delinsGAGGTAAGCAAGG (p.Thr293GlufsTer?) | ClinVar dbSNP |
| 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.7673710del | CA497715392 | TP53 | c.910del (p.Thr304LeufsTer?) c.514del (p.Thr172LeufsTer?) c.631del (p.Thr211LeufsTer?) c.889del (p.Thr297LeufsTer?) c.782+471del (n.782+471del) c.793del (p.Thr265LeufsTer?) c.433del (p.Thr145LeufsTer?) c.877del (p.Thr293LeufsTer?) | COSMIC |
| 17 | g.7673710T>A | CA397836298 | TP53 | c.910A>T (p.Thr304Ser) c.514A>T (p.Thr172Ser) c.631A>T (p.Thr211Ser) c.889A>T (p.Thr297Ser) c.782+471A>T (n.782+471A>T) c.793A>T (p.Thr265Ser) c.433A>T (p.Thr145Ser) c.877A>T (p.Thr293Ser) | |
| 17 | g.7673710T>C | CA000493 | TP53 | c.910A>G (p.Thr304Ala) c.514A>G (p.Thr172Ala) c.631A>G (p.Thr211Ala) c.889A>G (p.Thr297Ala) c.782+471A>G (n.782+471A>G) c.793A>G (p.Thr265Ala) c.433A>G (p.Thr145Ala) c.877A>G (p.Thr293Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673710T>G | CA397836301 | TP53 | c.910A>C (p.Thr304Pro) c.514A>C (p.Thr172Pro) c.631A>C (p.Thr211Pro) c.889A>C (p.Thr297Pro) c.782+471A>C (n.782+471A>C) c.793A>C (p.Thr265Pro) c.433A>C (p.Thr145Pro) c.877A>C (p.Thr293Pro) | |
| 17 | g.7673710T= | CA2245948462 | TP53 | c.910A= (p.Thr304=) c.514A= (p.Thr172=) c.631A= (p.Thr211=) c.889A= (p.Thr297=) c.782+471A= (n.782+471A=) c.793A= (p.Thr265=) c.433A= (p.Thr145=) c.877A= (p.Thr293=) | |
| 17 | g.7673710_7673713dup | CA1139771733 | TP53 | c.907_910dup (p.Thr304LysfsTer3) c.511_514dup (p.Thr172LysfsTer3) c.628_631dup (p.Thr211LysfsTer3) c.886_889dup (p.Thr297LysfsTer3) c.782+468_782+471dup (n.782+468_782+471dup) c.790_793dup (p.Thr265LysfsTer3) c.430_433dup (p.Thr145LysfsTer3) c.874_877dup (p.Thr293LysfsTer3) | ClinVar |
| 17 | g.7673710_7673724delinsTGCTCCCTGGGGGCA | CA2245948463 | TP53 | c.896_910delinsTGCCCCCAGGGAGCA (p.Leu299=) c.500_514delinsTGCCCCCAGGGAGCA (p.Leu167=) c.617_631delinsTGCCCCCAGGGAGCA (p.Leu206=) c.875_889delinsTGCCCCCAGGGAGCA (p.Leu292=) c.782+457_782+471delinsTGCCCCCAGGGAGCA (n.782+457_782+471delinsTGCCCCCAGGGAGCA) c.779_793delinsTGCCCCCAGGGAGCA (p.Leu260=) c.419_433delinsTGCCCCCAGGGAGCA (p.Leu140=) c.863_877delinsTGCCCCCAGGGAGCA (p.Leu288=) | |
| 17 | g.7673711G>A | CA497715400 | TP53 | c.909C>T (p.Ser303=) c.513C>T (p.Ser171=) c.630C>T (p.Ser210=) c.888C>T (p.Ser296=) c.782+470C>T (n.782+470C>T) c.792C>T (p.Ser264=) c.432C>T (p.Ser144=) c.876C>T (p.Ser292=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.7673711G>C | CA397836305 | TP53 | c.909C>G (p.Ser303Arg) c.513C>G (p.Ser171Arg) c.630C>G (p.Ser210Arg) c.888C>G (p.Ser296Arg) c.782+470C>G (n.782+470C>G) c.792C>G (p.Ser264Arg) c.432C>G (p.Ser144Arg) c.876C>G (p.Ser292Arg) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7673711G= | CA2245948472 | TP53 | c.909C= (p.Ser303=) c.513C= (p.Ser171=) c.630C= (p.Ser210=) c.888C= (p.Ser296=) c.782+470C= (n.782+470C=) c.792C= (p.Ser264=) c.432C= (p.Ser144=) c.876C= (p.Ser292=) | |
| 17 | g.7673711G>T | CA397836307 | TP53 | c.909C>A (p.Ser303Arg) c.513C>A (p.Ser171Arg) c.630C>A (p.Ser210Arg) c.888C>A (p.Ser296Arg) c.782+470C>A (n.782+470C>A) c.792C>A (p.Ser264Arg) c.432C>A (p.Ser144Arg) c.876C>A (p.Ser292Arg) | dbSNP |
| 17 | g.7673712_7673720del | CA645587420 | TP53 | c.901_909del (p.Pro301_Ser303del) c.505_513del (p.Pro169_Ser171del) c.622_630del (p.Pro208_Ser210del) c.880_888del (p.Pro294_Ser296del) c.782+462_782+470del (n.782+462_782+470del) c.784_792del (p.Pro262_Ser264del) c.424_432del (p.Pro142_Ser144del) c.868_876del (p.Pro290_Ser292del) | COSMIC |