| 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.7674861_7676624dup | CA2573130640 | TP53 | c.-28_672dup c.-21-1386_276dup c.-28_393dup c.-28_651dup c.-25-3_672dup n.112_928dup c.-262_555dup c.-145_555dup c.-142-3_555dup | ClinVar |
| 17 | g.7674965_7675432del | CA1139665126 | TP53 | c.376-196_566del c.-21-196_170del c.97-196_287del c.376-217_545del c.-217_170del n.632-196_822del c.259-196_449del c.-298_89del c.341-194_533del | ClinVar |
| 17 | g.7675185_7675222delinsCAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTG | CA2245929617 | TP53 | c.390_427delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG (p.Leu130=) c.-7_31delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG c.111_148delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG (p.Leu37=) c.376-7_406delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG n.646_683delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG c.273_310delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG (p.Leu91=) c.-88_-51delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG (n.-88_-51delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG) c.357_394delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG (p.Leu119=) | |
| 17 | g.7675194_7675230del | CA645589135 | TP53 | c.390_426del (p.Asn131CysfsTer27) c.-7_30del c.111_147del (p.Asn38CysfsTer27) c.376-7_405del n.646_682del c.390_426del (p.Asn131CysfsTer?) c.273_309del (p.Asn92CysfsTer27) c.-88_-52del (n.-88_-52del) c.357_393del (p.Asn120CysfsTer27) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675193_7675234del | CA891842263 | TP53 | c.380_421del (p.Ser127_Thr140del) c.-17_25del c.101_142del (p.Ser34_Thr47del) c.376-17_400del n.636_677del c.263_304del (p.Ser88_Thr101del) c.-98_-57del (n.-98_-57del) c.347_388del (p.Ser116_Thr129del) | |
| 17 | g.7675197_7676153del | CA645589160 | TP53 | c.216_415del c.-21-917_19del c.96+229_136del c.216_394del n.472_671del c.99_298del c.216_382del | COSMIC |
| 17 | g.7675207_7675222del | CA000156 | TP53 | c.394_409del (p.Lys132TrpfsTer?) c.-3_13del c.115_130del (p.Lys39TrpfsTer?) c.376-3_388del n.650_665del c.277_292del (p.Lys93TrpfsTer?) c.-84_-69del (n.-84_-69del) c.361_376del (p.Lys121TrpfsTer?) | ClinVar dbSNP |
| 17 | g.7675205_7675996del | CA645589165 | TP53 | c.375_409del c.-21-758_13del c.96+388_130del c.375_388del n.631_665del c.258_292del c.340+31_376del | COSMIC |
| 17 | g.7675204_7675233del | CA645589167 | TP53 | c.379_408del (p.Ser127_Gln136del) c.-18_12del c.100_129del (p.Ser34_Gln43del) c.376-18_387del n.635_664del c.262_291del (p.Ser88_Gln97del) c.-99_-70del (n.-99_-70del) c.346_375del (p.Ser116_Gln125del) | COSMIC |
| 17 | g.7675209_7675242del | CA645589174 | TP53 | c.376-6_403del c.-21-6_7del c.97-6_124del c.376-27_382del c.-27_7del n.632-6_659del c.259-6_286del c.-108_-75del (n.-108_-75del) c.341-4_370del | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675211_7675241del | CA645589175 | TP53 | c.376-4_402del c.-21-4_6del c.97-4_123del c.376-25_381del c.-25_6del n.632-4_658del c.259-4_285del c.-106_-76del (n.-106_-76del) c.341-2_369del | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675212_7675233del | CA645589177 | TP53 | c.380_401del (p.Ser127PhefsTer?) c.-17_5del c.101_122del (p.Ser34PhefsTer?) c.376-17_380del n.636_657del c.263_284del (p.Ser88PhefsTer?) c.-98_-77del (n.-98_-77del) c.347_368del (p.Ser116PhefsTer?) | COSMIC |
| 17 | g.7675214_7675220dup | CA2573154615 | TP53 | c.392_398dup (p.Met133IlefsTer18) c.-5_2dup (p.Met1IlefsTer18) c.113_119dup (p.Met40IlefsTer18) c.376-5_377dup n.648_654dup c.275_281dup (p.Met94IlefsTer18) c.-86_-80dup (n.-86_-80dup) c.359_365dup (p.Met122IlefsTer18) | ClinVar dbSNP |
| 17 | g.7675214_7675225del | CA645589178 | TP53 | c.387_398del (p.Leu130_Met133del) c.-10_2del c.108_119del (p.Leu37_Met40del) c.376-10_377del n.643_654del c.270_281del (p.Leu91_Met94del) c.-91_-80del (n.-91_-80del) c.354_365del (p.Leu119_Met122del) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675216_7675224dup | CA913187811 | TP53 | c.388_396dup (p.Lys132_Met133insLeuAsnLys) c.-9_-1dup (p.Met1insLeuAsnLys) c.109_117dup (p.Lys39_Met40insLeuAsnLys) c.376-9_376-1dup (n.376-9_376-1dup) n.644_652dup c.271_279dup (p.Lys93_Met94insLeuAsnLys) c.-90_-82dup (n.-90_-82dup) c.355_363dup (p.Lys121_Met122insLeuAsnLys) | ClinVar dbSNP |
| 17 | g.7675216_7675227del | CA645589179 | TP53 | c.385_396del (p.Ala129_Lys132del) c.-12_-1del (n.-12_-1del) c.106_117del (p.Ala36_Lys39del) c.376-12_376-1del (n.376-12_376-1del) n.641_652del c.268_279del (p.Ala90_Lys93del) c.-93_-82del (n.-93_-82del) c.352_363del (p.Ala118_Lys121del) | COSMIC |
| 17 | g.7675218_7675238del | CA645589180 | TP53 | c.376_396del c.-21_-1del c.97_117del c.376-21_376-1del (n.376-21_376-1del) c.-21_-1del (n.-21_-1del) n.632_652del c.259_279del c.-102_-82del (n.-102_-82del) c.343_363del (p.Tyr115_Lys121del) | COSMIC |
| 17 | g.7675220_7675222del | CA10584593 | TP53 | c.393_395del (p.Asn131del) c.-4_-2del (n.-4_-2del) c.114_116del (p.Asn38del) c.376-4_376-2del (n.376-4_376-2del) n.649_651del c.276_278del (p.Asn92del) c.-85_-83del (n.-85_-83del) c.360_362del (p.Asn120del) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675217_7675231del | CA645589183 | TP53 | c.381_395del (p.Pro128_Lys132del) c.-16_-2del (n.-16_-2del) c.102_116del (p.Pro35_Lys39del) c.376-16_376-2del (n.376-16_376-2del) n.637_651del c.264_278del (p.Pro89_Lys93del) c.-97_-83del (n.-97_-83del) c.348_362del (p.Pro117_Lys121del) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675217_7675306delinsTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACG | CA2245930491 | TP53 | c.376-70_395delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA c.-21-70_-2delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA c.97-70_116delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA c.376-91_376-2delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA (n.376-91_376-2delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA) c.-91_-2delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA (n.-91_-2delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA) n.632-70_651delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA c.259-70_278delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA c.-172_-83delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA (n.-172_-83delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA) c.341-68_362delinsCGTCTTCCAGTTGCTTTATCTGTTCACTTGTGCCCTGACTTTCAACTCTGTCTCCTTCCTCTTCCTACAGTACTCCCCTGCCCTCAACAA | |
| 17 | g.7675218_7675225del | CA645589186 | TP53 | c.387_394del (p.Leu130AspfsTer16) c.-10_-3del (n.-10_-3del) c.108_115del (p.Leu37AspfsTer16) c.376-10_376-3del (n.376-10_376-3del) n.643_650del c.270_277del (p.Leu91AspfsTer16) c.-91_-84del (n.-91_-84del) c.354_361del (p.Leu119AspfsTer16) | COSMIC |
| 17 | g.7675218_7675236del | CA891842269 | TP53 | c.376_394del (p.Tyr126ArgfsTer?) c.-21_-3del (n.-21_-3del) c.97_115del (p.Tyr33ArgfsTer?) c.376-21_376-3del (n.376-21_376-3del) n.632_650del c.259_277del (p.Tyr87ArgfsTer?) c.-102_-84del (n.-102_-84del) c.343_361del (p.Tyr115ArgfsTer?) | |
| 17 | g.7675221_7675240del | CA891842270 | TP53 | c.376-1_394del c.-21-1_-3del c.97-1_115del c.376-22_376-3del (n.376-22_376-3del) c.-22_-3del (n.-22_-3del) n.632-1_650del c.259-1_277del c.-103_-84del (n.-103_-84del) c.342_361del | |
| 17 | g.7675218_7675306delinsC | CA1139665133 | TP53 | c.376-70_394delinsG c.-21-70_-3delinsG c.97-70_115delinsG c.376-91_376-3delinsG (n.376-91_376-3delinsG) c.-91_-3delinsG (n.-91_-3delinsG) n.632-70_650delinsG c.259-70_277delinsG c.-172_-84delinsG (n.-172_-84delinsG) c.341-68_361delinsG | ClinVar dbSNP |
| 17 | g.7675220_7675224del | CA645589187 | TP53 | c.389_393del (p.Leu130GlnfsTer17) c.-8_-4del (n.-8_-4del) c.110_114del (p.Leu37GlnfsTer17) c.376-8_376-4del (n.376-8_376-4del) n.645_649del c.272_276del (p.Leu91GlnfsTer17) c.-89_-85del (n.-89_-85del) c.356_360del (p.Leu119GlnfsTer17) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675219_7675227del | CA645589189 | TP53 | c.385_393del (p.Ala129_Asn131del) c.-12_-4del (n.-12_-4del) c.106_114del (p.Ala36_Asn38del) c.376-12_376-4del (n.376-12_376-4del) n.641_649del c.268_276del (p.Ala90_Asn92del) c.-93_-85del (n.-93_-85del) c.352_360del (p.Ala118_Asn120del) | COSMIC |
| 17 | g.7675220_7675230del | CA645589188 | TP53 | c.383_393del (p.Pro128GlnfsTer17) c.-14_-4del (n.-14_-4del) c.104_114del (p.Pro35GlnfsTer17) c.376-14_376-4del (n.376-14_376-4del) n.639_649del c.266_276del (p.Pro89GlnfsTer17) c.-95_-85del (n.-95_-85del) c.350_360del (p.Pro117GlnfsTer17) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675219_7675236del | CA645589190 | TP53 | c.376_393del (p.Tyr126_Asn131del) c.-21_-4del (n.-21_-4del) c.97_114del (p.Tyr33_Asn38del) c.376-21_376-4del (n.376-21_376-4del) n.632_649del c.259_276del (p.Tyr87_Asn92del) c.-102_-85del (n.-102_-85del) c.343_360del (p.Tyr115_Asn120del) | COSMIC |
| 17 | g.7675220T>A | CA397842926 | TP53 | c.392A>T (p.Asn131Ile) c.-5A>T (n.-5A>T) c.113A>T (p.Asn38Ile) c.376-5A>T (n.376-5A>T) n.648A>T c.275A>T (p.Asn92Ile) c.-86A>T (n.-86A>T) c.359A>T (p.Asn120Ile) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675220T>C | CA397842933 | TP53 | c.392A>G (p.Asn131Ser) c.-5A>G (n.-5A>G) c.113A>G (p.Asn38Ser) c.376-5A>G (n.376-5A>G) n.648A>G c.275A>G (p.Asn92Ser) c.-86A>G (n.-86A>G) c.359A>G (p.Asn120Ser) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675220T>G | CA397842935 | TP53 | c.392A>C (p.Asn131Thr) c.-5A>C (n.-5A>C) c.113A>C (p.Asn38Thr) c.376-5A>C (n.376-5A>C) n.648A>C c.275A>C (p.Asn92Thr) c.-86A>C (n.-86A>C) c.359A>C (p.Asn120Thr) | dbSNP COSMIC |
| 17 | g.7675220T= | CA2245930617 | TP53 | c.392A= (p.Asn131=) c.-5A= (n.-5A=) c.113A= (p.Asn38=) c.376-5A= (n.376-5A=) n.648A= c.275A= (p.Asn92=) c.-86A= (n.-86A=) c.359A= (p.Asn120=) | |
| 17 | g.7675221del | CA497925749 | TP53 | c.392del (p.Asn131ThrfsTer?) c.-5del (n.-5del) c.113del (p.Asn38ThrfsTer?) c.376-5del (n.376-5del) n.648del c.275del (p.Asn92ThrfsTer?) c.-86del (n.-86del) c.359del (p.Asn120ThrfsTer?) | ClinVar COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675221T>A | CA000154 | TP53 | c.391A>T (p.Asn131Tyr) c.-6A>T (n.-6A>T) c.112A>T (p.Asn38Tyr) c.376-6A>T (n.376-6A>T) n.647A>T c.274A>T (p.Asn92Tyr) c.-87A>T (n.-87A>T) c.358A>T (p.Asn120Tyr) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675221T>C | CA397842938 | TP53 | c.391A>G (p.Asn131Asp) c.-6A>G (n.-6A>G) c.112A>G (p.Asn38Asp) c.376-6A>G (n.376-6A>G) n.647A>G c.274A>G (p.Asn92Asp) c.-87A>G (n.-87A>G) c.358A>G (p.Asn120Asp) | |
| 17 | g.7675221T>G | CA397842941 | TP53 | c.391A>C (p.Asn131His) c.-6A>C (n.-6A>C) c.112A>C (p.Asn38His) c.376-6A>C (n.376-6A>C) n.647A>C c.274A>C (p.Asn92His) c.-87A>C (n.-87A>C) c.358A>C (p.Asn120His) | COSMIC |
| 17 | g.7675221T= | CA2245930640 | TP53 | c.391A= (p.Asn131=) c.-6A= (n.-6A=) c.112A= (p.Asn38=) c.376-6A= (n.376-6A=) n.647A= c.274A= (p.Asn92=) c.-87A= (n.-87A=) c.358A= (p.Asn120=) | |
| 17 | g.7675222del | CA2573154620 | TP53 | c.390del (p.Asn131ThrfsTer?) c.-7del (n.-7del) c.111del (p.Asn38ThrfsTer?) c.376-7del (n.376-7del) n.646del c.273del (p.Asn92ThrfsTer?) c.-88del (n.-88del) c.357del (p.Asn120ThrfsTer?) | ClinVar dbSNP |
| 17 | g.7675222G>A | CA000152 | TP53 | c.390C>T (p.Leu130=) c.-7C>T (n.-7C>T) c.111C>T (p.Leu37=) c.376-7C>T (n.376-7C>T) n.646C>T c.273C>T (p.Leu91=) c.-88C>T (n.-88C>T) c.357C>T (p.Leu119=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7675222G>C | CA497925751 | TP53 | c.390C>G (p.Leu130=) c.-7C>G (n.-7C>G) c.111C>G (p.Leu37=) c.376-7C>G (n.376-7C>G) n.646C>G c.273C>G (p.Leu91=) c.-88C>G (n.-88C>G) c.357C>G (p.Leu119=) | ClinVar dbSNP |
| 17 | g.7675222G= | CA2245930652 | TP53 | c.390C= (p.Leu130=) c.-7C= (n.-7C=) c.111C= (p.Leu37=) c.376-7C= (n.376-7C=) n.646C= c.273C= (p.Leu91=) c.-88C= (n.-88C=) c.357C= (p.Leu119=) | |
| 17 | g.7675222G>T | CA497925752 | TP53 | c.390C>A (p.Leu130=) c.-7C>A (n.-7C>A) c.111C>A (p.Leu37=) c.376-7C>A (n.376-7C>A) n.646C>A c.273C>A (p.Leu91=) c.-88C>A (n.-88C>A) c.357C>A (p.Leu119=) | dbSNP |
| 17 | g.7675222_7675224delinsATC | CA2697552122 | TP53 | c.388_390delinsGAT (p.Leu130Asp) c.-9_-7delinsGAT (n.-9_-7delinsGAT) c.109_111delinsGAT (p.Leu37Asp) c.376-9_376-7delinsGAT (n.376-9_376-7delinsGAT) n.644_646delinsGAT c.271_273delinsGAT (p.Leu91Asp) c.-90_-88delinsGAT (n.-90_-88delinsGAT) c.355_357delinsGAT (p.Leu119Asp) | ClinVar |
| 17 | g.7675223_7675225del | CA645589195 | TP53 | c.388_390del (p.Leu130del) c.-9_-7del (n.-9_-7del) c.109_111del (p.Leu37del) c.376-9_376-7del (n.376-9_376-7del) n.644_646del c.271_273del (p.Leu91del) c.-90_-88del (n.-90_-88del) c.355_357del (p.Leu119del) | COSMIC |
| 17 | g.7675223_7675226dup | CA645589193 | TP53 | c.387_390dup (p.Asn131ProfsTer19) c.-10_-7dup (n.-10_-7dup) c.108_111dup (p.Asn38ProfsTer19) c.376-10_376-7dup (n.376-10_376-7dup) n.643_646dup c.270_273dup (p.Asn92ProfsTer19) c.-91_-88dup (n.-91_-88dup) c.354_357dup (p.Asn120ProfsTer19) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675223_7675226del | CA645589192 | TP53 | c.387_390del (p.Leu130ThrfsTer?) c.-10_-7del (n.-10_-7del) c.108_111del (p.Leu37ThrfsTer?) c.376-10_376-7del (n.376-10_376-7del) n.643_646del c.270_273del (p.Leu91ThrfsTer?) c.-91_-88del (n.-91_-88del) c.354_357del (p.Leu119ThrfsTer?) | COSMIC |
| 17 | g.7675223_7675231del | CA645589194 | TP53 | c.382_390del (p.Pro128_Leu130del) c.-15_-7del (n.-15_-7del) c.103_111del (p.Pro35_Leu37del) c.376-15_376-7del (n.376-15_376-7del) n.638_646del c.265_273del (p.Pro89_Leu91del) c.-96_-88del (n.-96_-88del) c.349_357del (p.Pro117_Leu119del) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675223A= | CA2245930674 | TP53 | c.389T= (p.Leu130=) c.-8T= (n.-8T=) c.110T= (p.Leu37=) c.376-8T= (n.376-8T=) n.645T= c.272T= (p.Leu91=) c.-89T= (n.-89T=) c.356T= (p.Leu119=) |