UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.7674210_7674287dup | CA2697552064 | TP53 | c.676_753dup (p.Ile251_Leu252insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.280_357dup (p.Ile119_Leu120insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.397_474dup (p.Ile158_Leu159insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.655_732dup (p.Ile244_Leu245insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.559_636dup (p.Ile212_Leu213insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.199_276dup (p.Ile92_Leu93insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) c.643_720dup (p.Ile240_Leu241insGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIle) | ClinVar |
| 17 | g.7674218_7674967del | CA645588534 | TP53 | c.569_750del c.173_354del c.290_471del c.548_729del c.452_633del c.92_273del c.536_717del | COSMIC COSMIC COSMIC |
| 17 | g.7674221_7674245delinsGGTTCATGCCGCCCATGCAGGAACT | CA2245951429 | TP53 | c.718_742delinsAGTTCCTGCATGGGCGGCATGAACC (p.Ser240=) c.322_346delinsAGTTCCTGCATGGGCGGCATGAACC (p.Ser108=) c.439_463delinsAGTTCCTGCATGGGCGGCATGAACC (p.Ser147=) c.697_721delinsAGTTCCTGCATGGGCGGCATGAACC (p.Ser233=) c.601_625delinsAGTTCCTGCATGGGCGGCATGAACC (p.Ser201=) c.241_265delinsAGTTCCTGCATGGGCGGCATGAACC (p.Ser81=) c.685_709delinsAGTTCCTGCATGGGCGGCATGAACC (p.Ser229=) | |
| 17 | g.7674225_7674248del | CA000355 | TP53 | c.718_741del (p.Ser240_Asn247del) c.322_345del (p.Ser108_Asn115del) c.439_462del (p.Ser147_Asn154del) c.697_720del (p.Ser233_Asn240del) c.601_624del (p.Ser201_Asn208del) c.241_264del (p.Ser81_Asn88del) c.685_708del (p.Ser229_Asn236del) | ClinVar dbSNP |
| 17 | g.7674224_7674251delinsTCATGCCGCCCATGCAGGAACTGTTACA | CA2245951485 | TP53 | c.712_739delinsTGTAACAGTTCCTGCATGGGCGGCATGA (p.Cys238=) c.316_343delinsTGTAACAGTTCCTGCATGGGCGGCATGA (p.Cys106=) c.433_460delinsTGTAACAGTTCCTGCATGGGCGGCATGA (p.Cys145=) c.691_718delinsTGTAACAGTTCCTGCATGGGCGGCATGA (p.Cys231=) c.595_622delinsTGTAACAGTTCCTGCATGGGCGGCATGA (p.Cys199=) c.235_262delinsTGTAACAGTTCCTGCATGGGCGGCATGA (p.Cys79=) c.679_706delinsTGTAACAGTTCCTGCATGGGCGGCATGA (p.Cys227=) | |
| 17 | g.7674229_7674255del | CA645588562 | TP53 | c.712_738del (p.Cys238_Met246del) c.316_342del (p.Cys106_Met114del) c.433_459del (p.Cys145_Met153del) c.691_717del (p.Cys231_Met239del) c.595_621del (p.Cys199_Met207del) c.235_261del (p.Cys79_Met87del) c.679_705del (p.Cys227_Met235del) | ClinVar dbSNP COSMIC |
| 17 | g.7674226_7674247delinsATGCCGCCCATGCAGGAACTGT | CA2245951528 | TP53 | c.716_737delinsACAGTTCCTGCATGGGCGGCAT (p.Asn239=) c.320_341delinsACAGTTCCTGCATGGGCGGCAT (p.Asn107=) c.437_458delinsACAGTTCCTGCATGGGCGGCAT (p.Asn146=) c.695_716delinsACAGTTCCTGCATGGGCGGCAT (p.Asn232=) c.599_620delinsACAGTTCCTGCATGGGCGGCAT (p.Asn200=) c.239_260delinsACAGTTCCTGCATGGGCGGCAT (p.Asn80=) c.683_704delinsACAGTTCCTGCATGGGCGGCAT (p.Asn228=) | |
| 17 | g.7674227_7674241del | CA645588566 | TP53 | c.722_736del (p.Ser241_Met246delinsLeu) c.326_340del (p.Ser109_Met114delinsLeu) c.443_457del (p.Ser148_Met153delinsLeu) c.701_715del (p.Ser234_Met239delinsLeu) c.605_619del (p.Ser202_Met207delinsLeu) c.245_259del (p.Ser82_Met87delinsLeu) c.689_703del (p.Ser230_Met235delinsLeu) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674228_7674248del | CA10580925 | TP53 | c.716_736del (p.Asn239_Gly245del) c.320_340del (p.Asn107_Gly113del) c.437_457del (p.Asn146_Gly152del) c.695_715del (p.Asn232_Gly238del) c.599_619del (p.Asn200_Gly206del) c.239_259del (p.Asn80_Gly86del) c.683_703del (p.Asn228_Gly234del) | ClinVar dbSNP |
| 17 | g.7674229_7674244del | CA2739265549 | TP53 | c.719_734del (p.Ser240ThrfsTer2) c.323_338del (p.Ser108ThrfsTer2) c.440_455del (p.Ser147ThrfsTer2) c.698_713del (p.Ser233ThrfsTer2) c.602_617del (p.Ser201ThrfsTer2) c.242_257del (p.Ser81ThrfsTer2) c.686_701del (p.Ser229ThrfsTer2) | ClinVar |
| 17 | g.7674230_7674244del | CA645588580 | TP53 | c.720_734del (p.Ser241_Gly245del) c.324_338del (p.Ser109_Gly113del) c.441_455del (p.Ser148_Gly152del) c.699_713del (p.Ser234_Gly238del) c.603_617del (p.Ser202_Gly206del) c.243_257del (p.Ser82_Gly86del) c.687_701del (p.Ser230_Gly234del) | COSMIC |
| 17 | g.7674238_7674255del | CA645588590 | TP53 | c.712_729del (p.Cys238_Met243del) c.316_333del (p.Cys106_Met111del) c.433_450del (p.Cys145_Met150del) c.691_708del (p.Cys231_Met236del) c.595_612del (p.Cys199_Met204del) c.235_252del (p.Cys79_Met84del) c.679_696del (p.Cys227_Met232del) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674234_7674257del | CA645588592 | TP53 | c.706_729del (p.Tyr236_Met243del) c.310_333del (p.Tyr104_Met111del) c.427_450del (p.Tyr143_Met150del) c.685_708del (p.Tyr229_Met236del) c.589_612del (p.Tyr197_Met204del) c.229_252del (p.Tyr77_Met84del) c.673_696del (p.Tyr225_Met232del) | COSMIC |
| 17 | g.7674236_7674242del | CA2695200375 | TP53 | c.722_728del (p.Ser241TrpfsTer4) c.326_332del (p.Ser109TrpfsTer4) c.443_449del (p.Ser148TrpfsTer4) c.701_707del (p.Ser234TrpfsTer4) c.605_611del (p.Ser202TrpfsTer4) c.245_251del (p.Ser82TrpfsTer4) c.689_695del (p.Ser230TrpfsTer4) | ClinVar |
| 17 | g.7674236_7674241dup | CA2580094894 | TP53 | c.722_727dup (p.Cys242_Met243insThrCys) c.326_331dup (p.Cys110_Met111insThrCys) c.443_448dup (p.Cys149_Met150insThrCys) c.701_706dup (p.Cys235_Met236insThrCys) c.605_610dup (p.Cys203_Met204insThrCys) c.245_250dup (p.Cys83_Met84insThrCys) c.689_694dup (p.Cys231_Met232insThrCys) | ClinVar |
| 17 | g.7674236_7674248del | CA645588596 | TP53 | c.715_727del (p.Asn239TrpfsTer4) c.319_331del (p.Asn107TrpfsTer4) c.436_448del (p.Asn146TrpfsTer4) c.694_706del (p.Asn232TrpfsTer4) c.598_610del (p.Asn200TrpfsTer4) c.238_250del (p.Asn80TrpfsTer4) c.682_694del (p.Asn228TrpfsTer4) | COSMIC |
| 17 | g.7674237_7674248del | CA645588594 | TP53 | c.716_727del (p.Asn239_Cys242del) c.320_331del (p.Asn107_Cys110del) c.437_448del (p.Asn146_Cys149del) c.695_706del (p.Asn232_Cys235del) c.599_610del (p.Asn200_Cys203del) c.239_250del (p.Asn80_Cys83del) c.683_694del (p.Asn228_Cys231del) | COSMIC |
| 17 | g.7674236_7674250del | CA2739265551 | TP53 | c.713_727del (p.Cys238_Met243delinsLeu) c.317_331del (p.Cys106_Met111delinsLeu) c.434_448del (p.Cys145_Met150delinsLeu) c.692_706del (p.Cys231_Met236delinsLeu) c.596_610del (p.Cys199_Met204delinsLeu) c.236_250del (p.Cys79_Met84delinsLeu) c.680_694del (p.Cys227_Met232delinsLeu) | ClinVar |
| 17 | g.7674237_7674242del | CA645588598 | TP53 | c.721_726del (p.Ser241_Cys242del) c.325_330del (p.Ser109_Cys110del) c.442_447del (p.Ser148_Cys149del) c.700_705del (p.Ser234_Cys235del) c.604_609del (p.Ser202_Cys203del) c.244_249del (p.Ser82_Cys83del) c.688_693del (p.Ser230_Cys231del) | COSMIC |
| 17 | g.7674238_7674267del | CA645588599 | TP53 | c.697_726del (p.His233_Cys242del) c.301_330del (p.His101_Cys110del) c.418_447del (p.His140_Cys149del) c.676_705del (p.His226_Cys235del) c.580_609del (p.His194_Cys203del) c.220_249del (p.His74_Cys83del) c.664_693del (p.His222_Cys231del) | COSMIC |
| 17 | g.7674239_7674244del | CA645588601 | TP53 | c.720_725del (p.Ser241_Cys242del) c.324_329del (p.Ser109_Cys110del) c.441_446del (p.Ser148_Cys149del) c.699_704del (p.Ser234_Cys235del) c.603_608del (p.Ser202_Cys203del) c.243_248del (p.Ser82_Cys83del) c.687_692del (p.Ser230_Cys231del) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674238_7674248delinsCAGGAACTGTT | CA2245951957 | TP53 | c.715_725delinsAACAGTTCCTG (p.Asn239=) c.319_329delinsAACAGTTCCTG (p.Asn107=) c.436_446delinsAACAGTTCCTG (p.Asn146=) c.694_704delinsAACAGTTCCTG (p.Asn232=) c.598_608delinsAACAGTTCCTG (p.Asn200=) c.238_248delinsAACAGTTCCTG (p.Asn80=) c.682_692delinsAACAGTTCCTG (p.Asn228=) | |
| 17 | g.7674240_7674251del | CA645588602 | TP53 | c.714_725del (p.Asn239_Cys242del) c.318_329del (p.Asn107_Cys110del) c.435_446del (p.Asn146_Cys149del) c.693_704del (p.Asn232_Cys235del) c.597_608del (p.Asn200_Cys203del) c.237_248del (p.Asn80_Cys83del) c.681_692del (p.Asn228_Cys231del) | COSMIC |
| 17 | g.7674240_7674253del | CA645588600 | TP53 | c.712_725del (p.Cys238HisfsTer21) c.316_329del (p.Cys106HisfsTer21) c.433_446del (p.Cys145HisfsTer21) c.691_704del (p.Cys231HisfsTer21) c.712_725del (p.Cys238HisfsTer?) c.433_446del (p.Cys145HisfsTer?) c.595_608del (p.Cys199HisfsTer21) c.235_248del (p.Cys79HisfsTer21) c.679_692del (p.Cys227HisfsTer21) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674240_7674242del | CA645588603 | TP53 | c.722_724del (p.Ser241del) c.326_328del (p.Ser109del) c.443_445del (p.Ser148del) c.701_703del (p.Ser234del) c.605_607del (p.Ser202del) c.245_247del (p.Ser82del) c.689_691del (p.Ser230del) | COSMIC COSMIC |
| 17 | g.7674239_7674247del | CA645588604 | TP53 | c.716_724del (p.Asn239_Cys242delinsSer) c.320_328del (p.Asn107_Cys110delinsSer) c.437_445del (p.Asn146_Cys149delinsSer) c.695_703del (p.Asn232_Cys235delinsSer) c.599_607del (p.Asn200_Cys203delinsSer) c.239_247del (p.Asn80_Cys83delinsSer) c.683_691del (p.Asn228_Cys231delinsSer) | COSMIC |
| 17 | g.7674240_7674249del | CA658656524 | TP53 | c.715_724del (p.Asn239AlafsTer5) c.319_328del (p.Asn107AlafsTer5) c.436_445del (p.Asn146AlafsTer5) c.694_703del (p.Asn232AlafsTer5) c.598_607del (p.Asn200AlafsTer5) c.238_247del (p.Asn80AlafsTer5) c.682_691del (p.Asn228AlafsTer5) | ClinVar dbSNP |
| 17 | g.7674240_7674241del | CA645588605 | TP53 | c.722_723del (p.Ser241LeufsTer22) c.326_327del (p.Ser109LeufsTer22) c.443_444del (p.Ser148LeufsTer22) c.701_702del (p.Ser234LeufsTer22) c.722_723del (p.Ser241LeufsTer?) c.443_444del (p.Ser148LeufsTer?) c.605_606del (p.Ser202LeufsTer22) c.245_246del (p.Ser82LeufsTer22) c.689_690del (p.Ser230LeufsTer22) | COSMIC |
| 17 | g.7674240_7674241delinsAA | CA645588606 | TP53 | c.722_723delinsTT (p.Ser241Phe) c.326_327delinsTT (p.Ser109Phe) c.443_444delinsTT (p.Ser148Phe) c.701_702delinsTT (p.Ser234Phe) c.605_606delinsTT (p.Ser202Phe) c.245_246delinsTT (p.Ser82Phe) c.689_690delinsTT (p.Ser230Phe) | COSMIC |
| 17 | g.7674241del | CA497717451 | TP53 | c.723del (p.Cys242AlafsTer5) c.327del (p.Cys110AlafsTer5) c.444del (p.Cys149AlafsTer5) c.702del (p.Cys235AlafsTer5) c.606del (p.Cys203AlafsTer5) c.246del (p.Cys83AlafsTer5) c.690del (p.Cys231AlafsTer5) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674241G>A | CA000359 | TP53 | c.722C>T (p.Ser241Phe) c.326C>T (p.Ser109Phe) c.443C>T (p.Ser148Phe) c.701C>T (p.Ser234Phe) c.605C>T (p.Ser202Phe) c.245C>T (p.Ser82Phe) c.689C>T (p.Ser230Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674241G>C | CA000357 | TP53 | c.722C>G (p.Ser241Cys) c.326C>G (p.Ser109Cys) c.443C>G (p.Ser148Cys) c.701C>G (p.Ser234Cys) c.605C>G (p.Ser202Cys) c.245C>G (p.Ser82Cys) c.689C>G (p.Ser230Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674241G= | CA2245952012 | TP53 | c.722C= (p.Ser241=) c.326C= (p.Ser109=) c.443C= (p.Ser148=) c.701C= (p.Ser234=) c.605C= (p.Ser202=) c.245C= (p.Ser82=) c.689C= (p.Ser230=) | |
| 17 | g.7674241G>T | CA16603078 | TP53 | c.722C>A (p.Ser241Tyr) c.326C>A (p.Ser109Tyr) c.443C>A (p.Ser148Tyr) c.701C>A (p.Ser234Tyr) c.605C>A (p.Ser202Tyr) c.245C>A (p.Ser82Tyr) c.689C>A (p.Ser230Tyr) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674241_7674242delinsGA | CA2245952021 | TP53 | c.721_722delinsTC (p.Ser241=) c.325_326delinsTC (p.Ser109=) c.442_443delinsTC (p.Ser148=) c.700_701delinsTC (p.Ser234=) c.604_605delinsTC (p.Ser202=) c.244_245delinsTC (p.Ser82=) c.688_689delinsTC (p.Ser230=) | |
| 17 | g.7674241_7674243del | CA645588608 | TP53 | c.720_722del (p.Ser241del) c.324_326del (p.Ser109del) c.441_443del (p.Ser148del) c.699_701del (p.Ser234del) c.603_605del (p.Ser202del) c.243_245del (p.Ser82del) c.687_689del (p.Ser230del) | COSMIC |
| 17 | g.7674241_7674247del | CA2573154658 | TP53 | c.716_722del (p.Asn239ThrfsTer6) c.320_326del (p.Asn107ThrfsTer6) c.437_443del (p.Asn146ThrfsTer6) c.695_701del (p.Asn232ThrfsTer6) c.599_605del (p.Asn200ThrfsTer6) c.239_245del (p.Asn80ThrfsTer6) c.683_689del (p.Asn228ThrfsTer6) | dbSNP |
| 17 | g.7674241_7674247delinsGAACTGT | CA2245952020 | TP53 | c.716_722delinsACAGTTC (p.Asn239=) c.320_326delinsACAGTTC (p.Asn107=) c.437_443delinsACAGTTC (p.Asn146=) c.695_701delinsACAGTTC (p.Asn232=) c.599_605delinsACAGTTC (p.Asn200=) c.239_245delinsACAGTTC (p.Asn80=) c.683_689delinsACAGTTC (p.Asn228=) | |
| 17 | g.7674241_7674248del | CA645588607 | TP53 | c.715_722del (p.Asn239LeufsTer22) c.319_326del (p.Asn107LeufsTer22) c.436_443del (p.Asn146LeufsTer22) c.694_701del (p.Asn232LeufsTer22) c.715_722del (p.Asn239LeufsTer?) c.436_443del (p.Asn146LeufsTer?) c.598_605del (p.Asn200LeufsTer22) c.238_245del (p.Asn80LeufsTer22) c.682_689del (p.Asn228LeufsTer22) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674241_7674248delinsA | CA2580094898 | TP53 | c.715_722delinsT (p.Asn239SerfsTer6) c.319_326delinsT (p.Asn107SerfsTer6) c.436_443delinsT (p.Asn146SerfsTer6) c.694_701delinsT (p.Asn232SerfsTer6) c.598_605delinsT (p.Asn200SerfsTer6) c.238_245delinsT (p.Asn80SerfsTer6) c.682_689delinsT (p.Asn228SerfsTer6) | ClinVar |
| 17 | g.7674242_7674266del | CA645588609 | TP53 | c.698_722del (p.His233ProfsTer6) c.302_326del (p.His101ProfsTer6) c.419_443del (p.His140ProfsTer6) c.677_701del (p.His226ProfsTer6) c.581_605del (p.His194ProfsTer6) c.221_245del (p.His74ProfsTer6) c.665_689del (p.His222ProfsTer6) | COSMIC |
| 17 | g.7674241_7674242insT | CA2635876620 | TP53 | c.721_722insA (p.Ser241TyrfsTer23) c.325_326insA (p.Ser109TyrfsTer23) c.442_443insA (p.Ser148TyrfsTer23) c.700_701insA (p.Ser234TyrfsTer23) c.721_722insA (p.Ser241TyrfsTer?) c.442_443insA (p.Ser148TyrfsTer?) c.604_605insA (p.Ser202TyrfsTer23) c.244_245insA (p.Ser82TyrfsTer23) c.688_689insA (p.Ser230TyrfsTer23) | gnomAD v4 |
| 17 | g.7674242A= | CA2245952044 | TP53 | c.721T= (p.Ser241=) c.325T= (p.Ser109=) c.442T= (p.Ser148=) c.700T= (p.Ser234=) c.604T= (p.Ser202=) c.244T= (p.Ser82=) c.688T= (p.Ser230=) | |
| 17 | g.7674242A>C | CA16603080 | TP53 | c.721T>G (p.Ser241Ala) c.325T>G (p.Ser109Ala) c.442T>G (p.Ser148Ala) c.700T>G (p.Ser234Ala) c.604T>G (p.Ser202Ala) c.244T>G (p.Ser82Ala) c.688T>G (p.Ser230Ala) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674242A>G | CA16603079 | TP53 | c.721T>C (p.Ser241Pro) c.325T>C (p.Ser109Pro) c.442T>C (p.Ser148Pro) c.700T>C (p.Ser234Pro) c.604T>C (p.Ser202Pro) c.244T>C (p.Ser82Pro) c.688T>C (p.Ser230Pro) | ClinVar dbSNP gnomAD v2 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674242A>T | CA397839091 | TP53 | c.721T>A (p.Ser241Thr) c.325T>A (p.Ser109Thr) c.442T>A (p.Ser148Thr) c.700T>A (p.Ser234Thr) c.604T>A (p.Ser202Thr) c.244T>A (p.Ser82Thr) c.688T>A (p.Ser230Thr) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674242_7674243del | CA645588610 | TP53 | c.720_721del (p.Ser241LeufsTer22) c.324_325del (p.Ser109LeufsTer22) c.441_442del (p.Ser148LeufsTer22) c.699_700del (p.Ser234LeufsTer22) c.720_721del (p.Ser241LeufsTer?) c.441_442del (p.Ser148LeufsTer?) c.603_604del (p.Ser202LeufsTer22) c.243_244del (p.Ser82LeufsTer22) c.687_688del (p.Ser230LeufsTer22) | COSMIC |
| 17 | g.7674243del | CA497717475 | TP53 | c.721del (p.Ser241ProfsTer6) c.325del (p.Ser109ProfsTer6) c.442del (p.Ser148ProfsTer6) c.700del (p.Ser234ProfsTer6) c.604del (p.Ser202ProfsTer6) c.244del (p.Ser82ProfsTer6) c.688del (p.Ser230ProfsTer6) | ClinVar dbSNP COSMIC |