| 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.7674960_7675141del | CA913203500 | TP53 | c.472_572del c.76_176del c.193_293del c.451_551del n.728_828del c.355_455del c.-6_95del c.439_539del | |
| 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.7675058_7675103del | CA645588874 | TP53 | c.511_556del (p.Glu171MetfsTer?) c.115_160del (p.Glu39MetfsTer?) c.232_277del (p.Glu78MetfsTer?) c.490_535del (p.Glu164MetfsTer?) n.767_812del n.19_64del c.394_439del (p.Glu132MetfsTer?) c.34_79del (p.Glu12MetfsTer?) c.478_523del (p.Glu160MetfsTer?) | COSMIC |
| 17 | g.7675060_7675112del | CA645588877 | TP53 | c.503_555del (p.His168ArgfsTer23) c.107_159del (p.His36ArgfsTer23) c.224_276del (p.His75ArgfsTer23) c.482_534del (p.His161ArgfsTer23) n.759_811del n.11_63del c.386_438del (p.His129ArgfsTer23) c.26_78del (p.His9ArgfsTer23) c.470_522del (p.His157ArgfsTer23) | COSMIC |
| 17 | g.7675059_7675109del | CA2697552081 | TP53 | c.503_553del (p.His168_Ser185delinsArg) c.107_157del (p.His36_Ser53delinsArg) c.224_274del (p.His75_Ser92delinsArg) c.482_532del (p.His161_Ser178delinsArg) n.759_809del n.11_61del c.386_436del (p.His129_Ser146delinsArg) c.26_76del (p.His9_Ser26delinsArg) c.470_520del (p.His157_Ser174delinsArg) | ClinVar |
| 17 | g.7675075_7675101del | CA645588912 | TP53 | c.514_540del (p.Val172_Glu180del) c.118_144del (p.Val40_Glu48del) c.235_261del (p.Val79_Glu87del) c.493_519del (p.Val165_Glu173del) n.770_796del n.22_48del c.397_423del (p.Val133_Glu141del) c.37_63del (p.Val13_Glu21del) c.481_507del (p.Val161_Glu169del) | COSMIC COSMIC |
| 17 | g.7675076_7675101del | CA645588924 | TP53 | c.511_536del (p.Glu171Ter) c.115_140del (p.Glu39Ter) c.232_257del (p.Glu78Ter) c.490_515del (p.Glu164Ter) n.767_792del n.19_44del c.394_419del (p.Glu132Ter) c.34_59del (p.Glu12Ter) c.478_503del (p.Glu160Ter) | COSMIC |
| 17 | g.7675080_7675110del | CA645588940 | TP53 | c.502_532del (p.His168ThrfsTer?) c.106_136del (p.His36ThrfsTer?) c.223_253del (p.His75ThrfsTer?) c.481_511del (p.His161ThrfsTer?) n.758_788del n.10_40del c.385_415del (p.His129ThrfsTer?) c.25_55del (p.His9ThrfsTer?) c.469_499del (p.His157ThrfsTer?) | COSMIC |
| 17 | g.7675086_7675145del | CA645588950 | TP53 | c.469_528del (p.Val157_Cys176del) c.73_132del (p.Val25_Cys44del) c.190_249del (p.Val64_Cys83del) c.448_507del (p.Val150_Cys169del) n.725_784del c.352_411del (p.Val118_Cys137del) c.-9_51del c.436_495del (p.Val146_Cys165del) | COSMIC |
| 17 | g.7675089_7675167del | CA645588955 | TP53 | c.445_523del (p.Ser149AlafsTer?) c.49_127del (p.Ser17AlafsTer?) c.166_244del (p.Ser56AlafsTer?) c.424_502del (p.Ser142AlafsTer?) n.701_779del c.328_406del (p.Ser110AlafsTer?) c.-33_46del c.412_490del (p.Ser138AlafsTer?) | COSMIC |
| 17 | g.7675095_7675106del | CA2499224973 | TP53 | c.509_520del (p.Thr170_Val173del) c.113_124del (p.Thr38_Val41del) c.230_241del (p.Thr77_Val80del) c.488_499del (p.Thr163_Val166del) n.765_776del n.17_28del c.392_403del (p.Thr131_Val134del) c.32_43del (p.Thr11_Val14del) c.476_487del (p.Thr159_Val162del) | ClinVar dbSNP |
| 17 | g.7675093_7675161del | CA645588958 | TP53 | c.451_519del (p.Pro151_Val173del) c.55_123del (p.Pro19_Val41del) c.172_240del (p.Pro58_Val80del) c.430_498del (p.Pro144_Val166del) n.707_775del c.334_402del (p.Pro112_Val134del) c.-27_42del c.418_486del (p.Pro140_Val162del) | COSMIC |
| 17 | g.7675096_7675101del | CA645588960 | TP53 | c.512_517del (p.Glu171_Val172del) c.116_121del (p.Glu39_Val40del) c.233_238del (p.Glu78_Val79del) c.491_496del (p.Glu164_Val165del) n.768_773del n.20_25del c.395_400del (p.Glu132_Val133del) c.35_40del (p.Glu12_Val13del) c.479_484del (p.Glu160_Val161del) | COSMIC |
| 17 | g.7675096_7675103del | CA645588961 | TP53 | c.509_516del (p.Thr170SerfsTer8) c.113_120del (p.Thr38SerfsTer8) c.230_237del (p.Thr77SerfsTer8) c.488_495del (p.Thr163SerfsTer8) n.765_772del n.17_24del c.392_399del (p.Thr131SerfsTer8) c.32_39del (p.Thr11SerfsTer8) c.476_483del (p.Thr159SerfsTer8) | COSMIC |
| 17 | g.7675097_7675101dup | CA193181 | TP53 | c.511_515dup (p.Val173ArgfsTer3) c.115_119dup (p.Val41ArgfsTer3) c.232_236dup (p.Val80ArgfsTer3) c.490_494dup (p.Val166ArgfsTer3) n.767_771dup n.19_23dup c.394_398dup (p.Val134ArgfsTer3) c.34_38dup (p.Val14ArgfsTer3) c.478_482dup (p.Val162ArgfsTer3) | ClinVar dbSNP |
| 17 | g.7675099_7675102del | CA645588962 | TP53 | c.511_514del (p.Glu171LeufsTer2) c.115_118del (p.Glu39LeufsTer2) c.232_235del (p.Glu78LeufsTer2) c.490_493del (p.Glu164LeufsTer2) n.767_770del n.19_22del c.394_397del (p.Glu132LeufsTer2) c.34_37del (p.Glu12LeufsTer2) c.478_481del (p.Glu160LeufsTer2) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675099_7675105del | CA645588963 | TP53 | c.508_514del (p.Thr170LeufsTer2) c.112_118del (p.Thr38LeufsTer2) c.229_235del (p.Thr77LeufsTer2) c.487_493del (p.Thr163LeufsTer2) n.764_770del n.16_22del c.391_397del (p.Thr131LeufsTer2) c.31_37del (p.Thr11LeufsTer2) c.475_481del (p.Thr159LeufsTer2) | COSMIC |
| 17 | g.7675099_7675100delinsGA | CA645588964 | TP53 | c.512_513delinsTC (p.Glu171Val) c.116_117delinsTC (p.Glu39Val) c.233_234delinsTC (p.Glu78Val) c.491_492delinsTC (p.Glu164Val) n.768_769delinsTC n.20_21delinsTC c.395_396delinsTC (p.Glu132Val) c.35_36delinsTC (p.Glu12Val) c.479_480delinsTC (p.Glu160Val) | COSMIC |
| 17 | g.7675099_7675103delinsCTCCG | CA2245956101 | TP53 | c.509_513delinsCGGAG (p.Thr170=) c.113_117delinsCGGAG (p.Thr38=) c.230_234delinsCGGAG (p.Thr77=) c.488_492delinsCGGAG (p.Thr163=) n.765_769delinsCGGAG n.17_21delinsCGGAG c.392_396delinsCGGAG (p.Thr131=) c.32_36delinsCGGAG (p.Thr11=) c.476_480delinsCGGAG (p.Thr159=) | |
| 17 | g.7675100T>A | CA397841593 | TP53 | c.512A>T (p.Glu171Val) c.116A>T (p.Glu39Val) c.233A>T (p.Glu78Val) c.491A>T (p.Glu164Val) n.768A>T n.20A>T c.395A>T (p.Glu132Val) c.35A>T (p.Glu12Val) c.479A>T (p.Glu160Val) | COSMIC |
| 17 | g.7675100T>C | CA397841596 | TP53 | c.512A>G (p.Glu171Gly) c.116A>G (p.Glu39Gly) c.233A>G (p.Glu78Gly) c.491A>G (p.Glu164Gly) n.768A>G n.20A>G c.395A>G (p.Glu132Gly) c.35A>G (p.Glu12Gly) c.479A>G (p.Glu160Gly) | ClinVar COSMIC |
| 17 | g.7675100T>G | CA397841618 | TP53 | c.512A>C (p.Glu171Ala) c.116A>C (p.Glu39Ala) c.233A>C (p.Glu78Ala) c.491A>C (p.Glu164Ala) n.768A>C n.20A>C c.395A>C (p.Glu132Ala) c.35A>C (p.Glu12Ala) c.479A>C (p.Glu160Ala) | COSMIC |
| 17 | g.7675102_7675105del | CA658656581 | TP53 | c.509_512del (p.Thr170ArgfsTer3) c.113_116del (p.Thr38ArgfsTer3) c.230_233del (p.Thr77ArgfsTer3) c.488_491del (p.Thr163ArgfsTer3) n.765_768del n.17_20del c.392_395del (p.Thr131ArgfsTer3) c.32_35del (p.Thr11ArgfsTer3) c.476_479del (p.Thr159ArgfsTer3) | ClinVar dbSNP |
| 17 | g.7675100_7675101insG | CA2697552090 | TP53 | c.511_512insC (p.Glu171AlafsTer10) c.115_116insC (p.Glu39AlafsTer10) c.232_233insC (p.Glu78AlafsTer10) c.490_491insC (p.Glu164AlafsTer10) n.767_768insC n.19_20insC c.394_395insC (p.Glu132AlafsTer10) c.34_35insC (p.Glu12AlafsTer10) c.478_479insC (p.Glu160AlafsTer10) | ClinVar |
| 17 | g.7675101C>A | CA397841623 | TP53 | c.511G>T (p.Glu171Ter) c.115G>T (p.Glu39Ter) c.232G>T (p.Glu78Ter) c.490G>T (p.Glu164Ter) n.767G>T n.19G>T c.394G>T (p.Glu132Ter) c.34G>T (p.Glu12Ter) c.478G>T (p.Glu160Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675101C= | CA2245956117 | TP53 | c.511G= (p.Glu171=) c.115G= (p.Glu39=) c.232G= (p.Glu78=) c.490G= (p.Glu164=) n.767G= n.19G= c.394G= (p.Glu132=) c.34G= (p.Glu12=) c.478G= (p.Glu160=) | |
| 17 | g.7675101C>G | CA397841628 | TP53 | c.511G>C (p.Glu171Gln) c.115G>C (p.Glu39Gln) c.232G>C (p.Glu78Gln) c.490G>C (p.Glu164Gln) n.767G>C n.19G>C c.394G>C (p.Glu132Gln) c.34G>C (p.Glu12Gln) c.478G>C (p.Glu160Gln) | dbSNP COSMIC |
| 17 | g.7675101C>T | CA000249 | TP53 | c.511G>A (p.Glu171Lys) c.115G>A (p.Glu39Lys) c.232G>A (p.Glu78Lys) c.490G>A (p.Glu164Lys) n.767G>A n.19G>A c.394G>A (p.Glu132Lys) c.34G>A (p.Glu12Lys) c.478G>A (p.Glu160Lys) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675101_7675102del | CA645588966 | TP53 | c.510_511del (p.Glu171GlyfsTer9) c.114_115del (p.Glu39GlyfsTer9) c.231_232del (p.Glu78GlyfsTer9) c.489_490del (p.Glu164GlyfsTer9) n.766_767del n.18_19del c.393_394del (p.Glu132GlyfsTer9) c.33_34del (p.Glu12GlyfsTer9) c.477_478del (p.Glu160GlyfsTer9) | COSMIC |
| 17 | g.7675102dup | CA891842257 | TP53 | c.511dup (p.Glu171GlyfsTer10) c.115dup (p.Glu39GlyfsTer10) c.232dup (p.Glu78GlyfsTer10) c.490dup (p.Glu164GlyfsTer10) n.767dup n.19dup c.394dup (p.Glu132GlyfsTer10) c.34dup (p.Glu12GlyfsTer10) c.478dup (p.Glu160GlyfsTer10) | |
| 17 | g.7675102del | CA497925606 | TP53 | c.511del (p.Glu171ArgfsTer3) c.115del (p.Glu39ArgfsTer3) c.232del (p.Glu78ArgfsTer3) c.490del (p.Glu164ArgfsTer3) n.767del n.19del c.394del (p.Glu132ArgfsTer3) c.34del (p.Glu12ArgfsTer3) c.478del (p.Glu160ArgfsTer3) | COSMIC |
| 17 | g.7675102_7675111del | CA645588965 | TP53 | c.502_511del (p.His168ArgfsTer3) c.106_115del (p.His36ArgfsTer3) c.223_232del (p.His75ArgfsTer3) c.481_490del (p.His161ArgfsTer3) n.758_767del n.10_19del c.385_394del (p.His129ArgfsTer3) c.25_34del (p.His9ArgfsTer3) c.469_478del (p.His157ArgfsTer3) | COSMIC |
| 17 | g.7675102C>A | CA497925607 | TP53 | c.510G>T (p.Thr170=) c.114G>T (p.Thr38=) c.231G>T (p.Thr77=) c.489G>T (p.Thr163=) n.766G>T n.18G>T c.393G>T (p.Thr131=) c.33G>T (p.Thr11=) c.477G>T (p.Thr159=) | ClinVar dbSNP COSMIC |
| 17 | g.7675102C= | CA2245956131 | TP53 | c.510G= (p.Thr170=) c.114G= (p.Thr38=) c.231G= (p.Thr77=) c.489G= (p.Thr163=) n.766G= n.18G= c.393G= (p.Thr131=) c.33G= (p.Thr11=) c.477G= (p.Thr159=) | |
| 17 | g.7675102C>G | CA497925608 | TP53 | c.510G>C (p.Thr170=) c.114G>C (p.Thr38=) c.231G>C (p.Thr77=) c.489G>C (p.Thr163=) n.766G>C n.18G>C c.393G>C (p.Thr131=) c.33G>C (p.Thr11=) c.477G>C (p.Thr159=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7675102C>T | CA000247 | TP53 | c.510G>A (p.Thr170=) c.114G>A (p.Thr38=) c.231G>A (p.Thr77=) c.489G>A (p.Thr163=) n.766G>A n.18G>A c.393G>A (p.Thr131=) c.33G>A (p.Thr11=) c.477G>A (p.Thr159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675102_7675103dup | CA915949537 | TP53 | c.509_510dup (p.Glu171ArgfsTer4) c.113_114dup (p.Glu39ArgfsTer4) c.230_231dup (p.Glu78ArgfsTer4) c.488_489dup (p.Glu164ArgfsTer4) n.765_766dup n.17_18dup c.392_393dup (p.Glu132ArgfsTer4) c.32_33dup (p.Glu12ArgfsTer4) c.476_477dup (p.Glu160ArgfsTer4) | ClinVar dbSNP |
| 17 | g.7675103del | CA645588968 | TP53 | c.509del (p.Thr170ArgfsTer4) c.113del (p.Thr38ArgfsTer4) c.230del (p.Thr77ArgfsTer4) c.488del (p.Thr163ArgfsTer4) n.765del n.17del c.392del (p.Thr131ArgfsTer4) c.32del (p.Thr11ArgfsTer4) c.476del (p.Thr159ArgfsTer4) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675103G>A | CA000246 | TP53 | c.509C>T (p.Thr170Met) c.113C>T (p.Thr38Met) c.230C>T (p.Thr77Met) c.488C>T (p.Thr163Met) n.765C>T n.17C>T c.392C>T (p.Thr131Met) c.32C>T (p.Thr11Met) c.476C>T (p.Thr159Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7675103G>C | CA287488567 | TP53 | c.509C>G (p.Thr170Arg) c.113C>G (p.Thr38Arg) c.230C>G (p.Thr77Arg) c.488C>G (p.Thr163Arg) n.765C>G n.17C>G c.392C>G (p.Thr131Arg) c.32C>G (p.Thr11Arg) c.476C>G (p.Thr159Arg) | ClinVar dbSNP |
| 17 | g.7675103G= | CA2245956150 | TP53 | c.509C= (p.Thr170=) c.113C= (p.Thr38=) c.230C= (p.Thr77=) c.488C= (p.Thr163=) n.765C= n.17C= c.392C= (p.Thr131=) c.32C= (p.Thr11=) c.476C= (p.Thr159=) | |
| 17 | g.7675103G>T | CA397841637 | TP53 | c.509C>A (p.Thr170Lys) c.113C>A (p.Thr38Lys) c.230C>A (p.Thr77Lys) c.488C>A (p.Thr163Lys) n.765C>A n.17C>A c.392C>A (p.Thr131Lys) c.32C>A (p.Thr11Lys) c.476C>A (p.Thr159Lys) | dbSNP |
| 17 | g.7675104_7675110del | CA645588967 | TP53 | c.503_509del (p.His168ArgfsTer4) c.107_113del (p.His36ArgfsTer4) c.224_230del (p.His75ArgfsTer4) c.482_488del (p.His161ArgfsTer4) n.759_765del n.11_17del c.386_392del (p.His129ArgfsTer4) c.26_32del (p.His9ArgfsTer4) c.470_476del (p.His157ArgfsTer4) | COSMIC |
| 17 | g.7675104T>A | CA397841663 | TP53 | c.508A>T (p.Thr170Ser) c.112A>T (p.Thr38Ser) c.229A>T (p.Thr77Ser) c.487A>T (p.Thr163Ser) n.764A>T n.16A>T c.391A>T (p.Thr131Ser) c.31A>T (p.Thr11Ser) c.475A>T (p.Thr159Ser) | COSMIC |
| 17 | g.7675104T>C | CA000244 | TP53 | c.508A>G (p.Thr170Ala) c.112A>G (p.Thr38Ala) c.229A>G (p.Thr77Ala) c.487A>G (p.Thr163Ala) n.764A>G n.16A>G c.391A>G (p.Thr131Ala) c.31A>G (p.Thr11Ala) c.475A>G (p.Thr159Ala) | ClinVar dbSNP COSMIC |
| 17 | g.7675104T>G | CA397841647 | TP53 | c.508A>C (p.Thr170Pro) c.112A>C (p.Thr38Pro) c.229A>C (p.Thr77Pro) c.487A>C (p.Thr163Pro) n.764A>C n.16A>C c.391A>C (p.Thr131Pro) c.31A>C (p.Thr11Pro) c.475A>C (p.Thr159Pro) | COSMIC |
| 17 | g.7675104T= | CA2245956163 | TP53 | c.508A= (p.Thr170=) c.112A= (p.Thr38=) c.229A= (p.Thr77=) c.487A= (p.Thr163=) n.764A= n.16A= c.391A= (p.Thr131=) c.31A= (p.Thr11=) c.475A= (p.Thr159=) |