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.7675199_7675219dup | CA891842265 | TP53 | c.398_418dup (p.Lys139_Thr140insMetPheCysGlnLeuAlaLys) c.2_22dup (p.Lys7_Thr8insMetPheCysGlnLeuAlaLys) c.119_139dup (p.Lys46_Thr47insMetPheCysGlnLeuAlaLys) c.377_397dup n.654_674dup c.281_301dup (p.Lys100_Thr101insMetPheCysGlnLeuAlaLys) c.-80_-60dup (n.-80_-60dup) c.365_385dup (p.Lys128_Thr129insMetPheCysGlnLeuAlaLys) | |
17 | g.7675199_7675219del | CA645589152 | TP53 | c.398_418del (p.Met133_Lys139del) c.2_22del (p.Met1_Lys7del) c.119_139del (p.Met40_Lys46del) c.377_397del n.654_674del c.281_301del (p.Met94_Lys100del) c.-80_-60del (n.-80_-60del) c.365_385del (p.Met122_Lys128del) | COSMIC |
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.7675202_7675218delinsAGTTGGCAAAACATCTT | CA2245930034 | TP53 | c.394_410delinsAAGATGTTTTGCCAACT (p.Lys132=) c.-3_14delinsAAGATGTTTTGCCAACT c.115_131delinsAAGATGTTTTGCCAACT (p.Lys39=) c.376-3_389delinsAAGATGTTTTGCCAACT n.650_666delinsAAGATGTTTTGCCAACT c.277_293delinsAAGATGTTTTGCCAACT (p.Lys93=) c.-84_-68delinsAAGATGTTTTGCCAACT (n.-84_-68delinsAAGATGTTTTGCCAACT) c.361_377delinsAAGATGTTTTGCCAACT (p.Lys121=) | |
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_7675219delinsCTTG | CA2245930458 | TP53 | c.393_396delinsCAAG (p.Asn131=) c.-4_-1delinsCAAG (n.-4_-1delinsCAAG) c.114_117delinsCAAG (p.Asn38=) c.376-4_376-1delinsCAAG (n.376-4_376-1delinsCAAG) n.649_652delinsCAAG c.276_279delinsCAAG (p.Asn92=) c.-85_-82delinsCAAG (n.-85_-82delinsCAAG) c.360_363delinsCAAG (p.Asn120=) | |
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.7675217_7675218delinsCA | CA645589185 | TP53 | c.394_395delinsTG (p.Lys132Trp) c.-3_-2delinsTG (n.-3_-2delinsTG) c.115_116delinsTG (p.Lys39Trp) c.376-3_376-2delinsTG (n.376-3_376-2delinsTG) n.650_651delinsTG c.277_278delinsTG (p.Lys93Trp) c.-84_-83delinsTG (n.-84_-83delinsTG) c.361_362delinsTG (p.Lys121Trp) | COSMIC |
17 | g.7675218del | CA497925745 | TP53 | c.395del (p.Lys132ArgfsTer?) c.-2del (n.-2del) c.116del (p.Lys39ArgfsTer?) c.376-2del (n.376-2del) n.651del c.278del (p.Lys93ArgfsTer?) c.-83del (n.-83del) c.362del (p.Lys121ArgfsTer?) | ClinVar COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC 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.7675218T>A | CA397842904 | TP53 | c.394A>T (p.Lys132Ter) c.-3A>T (n.-3A>T) c.115A>T (p.Lys39Ter) c.376-3A>T (n.376-3A>T) n.650A>T c.277A>T (p.Lys93Ter) c.-84A>T (n.-84A>T) c.361A>T (p.Lys121Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7675218T>C | CA002647 | TP53 | c.394A>G (p.Lys132Glu) c.-3A>G (n.-3A>G) c.115A>G (p.Lys39Glu) c.376-3A>G (n.376-3A>G) n.650A>G c.277A>G (p.Lys93Glu) c.-84A>G (n.-84A>G) c.361A>G (p.Lys121Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7675218T>G | CA16603047 | TP53 | c.394A>C (p.Lys132Gln) c.-3A>C (n.-3A>C) c.115A>C (p.Lys39Gln) c.376-3A>C (n.376-3A>C) n.650A>C c.277A>C (p.Lys93Gln) c.-84A>C (n.-84A>C) c.361A>C (p.Lys121Gln) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7675218T= | CA2245930536 | TP53 | c.394A= (p.Lys132=) c.-3A= (n.-3A=) c.115A= (p.Lys39=) c.376-3A= (n.376-3A=) n.650A= c.277A= (p.Lys93=) c.-84A= (n.-84A=) c.361A= (p.Lys121=) | |
17 | g.7675218_7675219delinsTG | CA2245930533 | TP53 | c.393_394delinsCA (p.Asn131=) c.-4_-3delinsCA (n.-4_-3delinsCA) c.114_115delinsCA (p.Asn38=) c.376-4_376-3delinsCA (n.376-4_376-3delinsCA) n.649_650delinsCA c.276_277delinsCA (p.Asn92=) c.-85_-84delinsCA (n.-85_-84delinsCA) c.360_361delinsCA (p.Asn120=) | |
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.7675219del | CA497925748 | TP53 | c.393del (p.Asn131LysfsTer?) c.-4del (n.-4del) c.114del (p.Asn38LysfsTer?) c.376-4del (n.376-4del) n.649del c.276del (p.Asn92LysfsTer?) c.-85del (n.-85del) c.360del (p.Asn120LysfsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
17 | g.7675219G>A | CA497925747 | TP53 | c.393C>T (p.Asn131=) c.-4C>T (n.-4C>T) c.114C>T (p.Asn38=) c.376-4C>T (n.376-4C>T) n.649C>T c.276C>T (p.Asn92=) c.-85C>T (n.-85C>T) c.360C>T (p.Asn120=) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.7675219G>C | CA397842918 | TP53 | c.393C>G (p.Asn131Lys) c.-4C>G (n.-4C>G) c.114C>G (p.Asn38Lys) c.376-4C>G (n.376-4C>G) n.649C>G c.276C>G (p.Asn92Lys) c.-85C>G (n.-85C>G) c.360C>G (p.Asn120Lys) | dbSNP COSMIC |
17 | g.7675219G= | CA2245930588 | TP53 | c.393C= (p.Asn131=) c.-4C= (n.-4C=) c.114C= (p.Asn38=) c.376-4C= (n.376-4C=) n.649C= c.276C= (p.Asn92=) c.-85C= (n.-85C=) c.360C= (p.Asn120=) | |
17 | g.7675219G>T | CA002656 | TP53 | c.393C>A (p.Asn131Lys) c.-4C>A (n.-4C>A) c.114C>A (p.Asn38Lys) c.376-4C>A (n.376-4C>A) n.649C>A c.276C>A (p.Asn92Lys) c.-85C>A (n.-85C>A) c.360C>A (p.Asn120Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
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=) |