| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7669589_7676614del | CA2499224945 | TP53 | c.-19_*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.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.7673536_7673594dup | CA2499224956 | TP53 | c.934_992dup (p.Ile332ProfsTer33) c.934_992dup (p.Lys332ProfsTer40) c.782+587_782+645dup (n.782+587_782+645dup) c.934_992dup (p.Asp332ProfsTer39) c.934_992dup (p.Met332ProfsTer31) c.538_596dup (p.Met200ProfsTer31) c.538_596dup (p.Ile200ProfsTer33) c.538_596dup (p.Gln199=) c.538_596dup (p.Asp200ProfsTer39) c.817_875dup (p.Ile293ProfsTer33) c.817_875dup (p.Met293ProfsTer31) c.457_515dup (p.Met173ProfsTer31) c.901_959dup (p.Ile321ProfsTer33) c.457_515dup (p.Asp173ProfsTer39) c.457_515dup (p.Ile173ProfsTer33) c.817_875dup (p.Asp293ProfsTer39) | ClinVar |
| 17 | g.7673541_7673560delinsGGTGAAATATTCTCCATCCA | CA2245947495 | TP53 | c.968_987delinsTGGATGGAGAATATTTCACC (p.Leu323=) c.782+621_782+640delinsTGGATGGAGAATATTTCACC (n.782+621_782+640delinsTGGATGGAGAATATTTCACC) c.572_591delinsTGGATGGAGAATATTTCACC (p.Leu191=) c.28_47delinsTGGATGGAGAATATTTCACC c.851_870delinsTGGATGGAGAATATTTCACC (p.Leu284=) c.491_510delinsTGGATGGAGAATATTTCACC (p.Leu164=) c.935_954delinsTGGATGGAGAATATTTCACC (p.Leu312=) | |
| 17 | g.7673545_7673563del | CA913188778 | TP53 | c.968_986del (p.Leu323ProfsTer16) c.968_986del (p.Leu323ProfsTer23) c.782+621_782+639del (n.782+621_782+639del) c.968_986del (p.Leu323ProfsTer22) c.968_986del (p.Leu323ProfsTer14) c.572_590del (p.Leu191ProfsTer14) c.572_590del (p.Leu191ProfsTer16) c.572_590del (p.Leu191ProfsTer?) c.572_590del (p.Leu191ProfsTer22) c.28_46del c.851_869del (p.Leu284ProfsTer16) c.851_869del (p.Leu284ProfsTer14) c.491_509del (p.Leu164ProfsTer14) c.935_953del (p.Leu312ProfsTer16) c.491_509del (p.Leu164ProfsTer22) c.491_509del (p.Leu164ProfsTer16) c.851_869del (p.Leu284ProfsTer22) | ClinVar dbSNP |
| 17 | g.7673553_7673554dup | CA915949514 | TP53 | c.976_977dup (p.Tyr327AsnfsTer19) c.976_977dup (p.Tyr327AsnfsTer26) c.782+629_782+630dup (n.782+629_782+630dup) c.976_977dup (p.Tyr327AsnfsTer25) c.976_977dup (p.Tyr327AsnfsTer17) c.580_581dup (p.Tyr195AsnfsTer17) c.580_581dup (p.Tyr195AsnfsTer19) c.580_581dup (p.Tyr195AsnfsTer?) c.580_581dup (p.Tyr195AsnfsTer25) c.36_37dup c.859_860dup (p.Tyr288AsnfsTer19) c.859_860dup (p.Tyr288AsnfsTer17) c.499_500dup (p.Tyr168AsnfsTer17) c.943_944dup (p.Tyr316AsnfsTer19) c.499_500dup (p.Tyr168AsnfsTer25) c.499_500dup (p.Tyr168AsnfsTer19) c.859_860dup (p.Tyr288AsnfsTer25) | ClinVar dbSNP |
| 17 | g.7673554C>A | CA000516 | TP53 | c.974G>T (p.Gly325Val) c.782+627G>T (n.782+627G>T) c.578G>T (p.Gly193Val) c.34G>T c.857G>T (p.Gly286Val) c.497G>T (p.Gly166Val) c.941G>T (p.Gly314Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7673554C= | CA2245947593 | TP53 | c.974G= (p.Gly325=) c.782+627G= (n.782+627G=) c.578G= (p.Gly193=) c.34G= c.857G= (p.Gly286=) c.497G= (p.Gly166=) c.941G= (p.Gly314=) | |
| 17 | g.7673554C>G | CA397835813 | TP53 | c.974G>C (p.Gly325Ala) c.782+627G>C (n.782+627G>C) c.578G>C (p.Gly193Ala) c.34G>C c.857G>C (p.Gly286Ala) c.497G>C (p.Gly166Ala) c.941G>C (p.Gly314Ala) | COSMIC |
| 17 | g.7673554C>T | CA397835817 | TP53 | c.974G>A (p.Gly325Glu) c.782+627G>A (n.782+627G>A) c.578G>A (p.Gly193Glu) c.34G>A c.857G>A (p.Gly286Glu) c.497G>A (p.Gly166Glu) c.941G>A (p.Gly314Glu) | ClinVar COSMIC |
| 17 | g.7673555C>A | CA335679 | TP53 | c.973G>T (p.Gly325Ter) c.782+626G>T (n.782+626G>T) c.577G>T (p.Gly193Ter) c.33G>T c.856G>T (p.Gly286Ter) c.496G>T (p.Gly166Ter) c.940G>T (p.Gly314Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673555C= | CA2245947602 | TP53 | c.973G= (p.Gly325=) c.782+626G= (n.782+626G=) c.577G= (p.Gly193=) c.33G= c.856G= (p.Gly286=) c.496G= (p.Gly166=) c.940G= (p.Gly314=) | |
| 17 | g.7673555C>G | CA397835825 | TP53 | c.973G>C (p.Gly325Arg) c.782+626G>C (n.782+626G>C) c.577G>C (p.Gly193Arg) c.33G>C c.856G>C (p.Gly286Arg) c.496G>C (p.Gly166Arg) c.940G>C (p.Gly314Arg) | |
| 17 | g.7673555C>T | CA397835820 | TP53 | c.973G>A (p.Gly325Arg) c.782+626G>A (n.782+626G>A) c.577G>A (p.Gly193Arg) c.33G>A c.856G>A (p.Gly286Arg) c.496G>A (p.Gly166Arg) c.940G>A (p.Gly314Arg) | ClinVar |
| 17 | g.7673556A>C | CA397835833 | TP53 | c.972T>G (p.Asp324Glu) c.782+625T>G (n.782+625T>G) c.576T>G (p.Asp192Glu) c.32T>G c.855T>G (p.Asp285Glu) c.495T>G (p.Asp165Glu) c.939T>G (p.Asp313Glu) | COSMIC |
| 17 | g.7673556A>G | CA497713910 | TP53 | c.972T>C (p.Asp324=) c.782+625T>C (n.782+625T>C) c.576T>C (p.Asp192=) c.32T>C c.855T>C (p.Asp285=) c.495T>C (p.Asp165=) c.939T>C (p.Asp313=) | COSMIC |
| 17 | g.7673556A>T | CA397835829 | TP53 | c.972T>A (p.Asp324Glu) c.782+625T>A (n.782+625T>A) c.576T>A (p.Asp192Glu) c.32T>A c.855T>A (p.Asp285Glu) c.495T>A (p.Asp165Glu) c.939T>A (p.Asp313Glu) | ClinVar COSMIC |
| 17 | g.7673557del | CA497713915 | TP53 | c.971del (p.Asp324ValfsTer21) c.971del (p.Asp324ValfsTer28) c.782+624del (n.782+624del) c.971del (p.Asp324ValfsTer27) c.971del (p.Asp324ValfsTer19) c.575del (p.Asp192ValfsTer19) c.575del (p.Asp192ValfsTer21) c.575del (p.Asp192ValfsTer?) c.575del (p.Asp192ValfsTer27) c.31del c.854del (p.Asp285ValfsTer21) c.854del (p.Asp285ValfsTer19) c.494del (p.Asp165ValfsTer19) c.938del (p.Asp313ValfsTer21) c.494del (p.Asp165ValfsTer27) c.494del (p.Asp165ValfsTer21) c.854del (p.Asp285ValfsTer27) | COSMIC |
| 17 | g.7673557T>A | CA397835834 | TP53 | c.971A>T (p.Asp324Val) c.782+624A>T (n.782+624A>T) c.575A>T (p.Asp192Val) c.31A>T c.854A>T (p.Asp285Val) c.494A>T (p.Asp165Val) c.938A>T (p.Asp313Val) | |
| 17 | g.7673557T>C | CA397835837 | TP53 | c.971A>G (p.Asp324Gly) c.782+624A>G (n.782+624A>G) c.575A>G (p.Asp192Gly) c.31A>G c.854A>G (p.Asp285Gly) c.494A>G (p.Asp165Gly) c.938A>G (p.Asp313Gly) | gnomAD v2 gnomAD v4 |
| 17 | g.7673557T>G | CA397835840 | TP53 | c.971A>C (p.Asp324Ala) c.782+624A>C (n.782+624A>C) c.575A>C (p.Asp192Ala) c.31A>C c.854A>C (p.Asp285Ala) c.494A>C (p.Asp165Ala) c.938A>C (p.Asp313Ala) | |
| 17 | g.7673557T= | CA2245947614 | TP53 | c.971A= (p.Asp324=) c.782+624A= (n.782+624A=) c.575A= (p.Asp192=) c.31A= c.854A= (p.Asp285=) c.494A= (p.Asp165=) c.938A= (p.Asp313=) | |
| 17 | g.7673557_7673558delinsCT | CA645587350 | TP53 | c.970_971delinsAG (p.Asp324Ser) c.782+623_782+624delinsAG (n.782+623_782+624delinsAG) c.574_575delinsAG (p.Asp192Ser) c.30_31delinsAG c.853_854delinsAG (p.Asp285Ser) c.493_494delinsAG (p.Asp165Ser) c.937_938delinsAG (p.Asp313Ser) | COSMIC |
| 17 | g.7673557_7673558delinsTC | CA2245947611 | TP53 | c.970_971delinsGA (p.Asp324=) c.782+623_782+624delinsGA (n.782+623_782+624delinsGA) c.574_575delinsGA (p.Asp192=) c.30_31delinsGA c.853_854delinsGA (p.Asp285=) c.493_494delinsGA (p.Asp165=) c.937_938delinsGA (p.Asp313=) | |
| 17 | g.7673558C>A | CA397835843 | TP53 | c.970G>T (p.Asp324Tyr) c.782+623G>T (n.782+623G>T) c.574G>T (p.Asp192Tyr) c.30G>T c.853G>T (p.Asp285Tyr) c.493G>T (p.Asp165Tyr) c.937G>T (p.Asp313Tyr) | ClinVar |
| 17 | g.7673558C= | CA2245947625 | TP53 | c.970G= (p.Asp324=) c.782+623G= (n.782+623G=) c.574G= (p.Asp192=) c.30G= c.853G= (p.Asp285=) c.493G= (p.Asp165=) c.937G= (p.Asp313=) | |
| 17 | g.7673558C>G | CA16620612 | TP53 | c.970G>C (p.Asp324His) c.782+623G>C (n.782+623G>C) c.574G>C (p.Asp192His) c.30G>C c.853G>C (p.Asp285His) c.493G>C (p.Asp165His) c.937G>C (p.Asp313His) | ClinVar gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7673558C>T | CA397835847 | TP53 | c.970G>A (p.Asp324Asn) c.782+623G>A (n.782+623G>A) c.574G>A (p.Asp192Asn) c.30G>A c.853G>A (p.Asp285Asn) c.493G>A (p.Asp165Asn) c.937G>A (p.Asp313Asn) | gnomAD v2 gnomAD v4 |
| 17 | g.7673559del | CA658683980 | TP53 | c.970del (p.Asp324MetfsTer21) c.970del (p.Asp324MetfsTer28) c.782+623del (n.782+623del) c.970del (p.Asp324MetfsTer27) c.970del (p.Asp324MetfsTer19) c.574del (p.Asp192MetfsTer19) c.574del (p.Asp192MetfsTer21) c.574del (p.Asp192MetfsTer?) c.574del (p.Asp192MetfsTer27) c.30del c.853del (p.Asp285MetfsTer21) c.853del (p.Asp285MetfsTer19) c.493del (p.Asp165MetfsTer19) c.937del (p.Asp313MetfsTer21) c.493del (p.Asp165MetfsTer27) c.493del (p.Asp165MetfsTer21) c.853del (p.Asp285MetfsTer27) | ClinVar dbSNP |
| 17 | g.7673558_7673580dup | CA645587351 | TP53 | c.948_970dup (p.Asp324AlafsTer29) c.948_970dup (p.Asp324AlafsTer36) c.782+601_782+623dup (n.782+601_782+623dup) c.948_970dup (p.Asp324AlafsTer35) c.948_970dup (p.Asp324AlafsTer27) c.552_574dup (p.Asp192AlafsTer27) c.552_574dup (p.Asp192AlafsTer29) c.552_574dup (p.Asp192AlafsTer?) c.552_574dup (p.Asp192AlafsTer35) c.8_30dup c.831_853dup (p.Asp285AlafsTer29) c.831_853dup (p.Asp285AlafsTer27) c.471_493dup (p.Asp165AlafsTer27) c.915_937dup (p.Asp313AlafsTer29) c.471_493dup (p.Asp165AlafsTer35) c.471_493dup (p.Asp165AlafsTer29) c.831_853dup (p.Asp285AlafsTer35) | COSMIC |
| 17 | g.7673559C>A | CA497713919 | TP53 | c.969G>T (p.Leu323=) c.782+622G>T (n.782+622G>T) c.573G>T (p.Leu191=) c.29G>T c.852G>T (p.Leu284=) c.492G>T (p.Leu164=) c.936G>T (p.Leu312=) | |
| 17 | g.7673559C= | CA2245947634 | TP53 | c.969G= (p.Leu323=) c.782+622G= (n.782+622G=) c.573G= (p.Leu191=) c.29G= c.852G= (p.Leu284=) c.492G= (p.Leu164=) c.936G= (p.Leu312=) | |
| 17 | g.7673559C>G | CA497713923 | TP53 | c.969G>C (p.Leu323=) c.782+622G>C (n.782+622G>C) c.573G>C (p.Leu191=) c.29G>C c.852G>C (p.Leu284=) c.492G>C (p.Leu164=) c.936G>C (p.Leu312=) | ClinVar |
| 17 | g.7673559C>T | CA000512 | TP53 | c.969G>A (p.Leu323=) c.782+622G>A (n.782+622G>A) c.573G>A (p.Leu191=) c.29G>A c.852G>A (p.Leu284=) c.492G>A (p.Leu164=) c.936G>A (p.Leu312=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.7673560A= | CA2245947643 | TP53 | c.968T= (p.Leu323=) c.782+621T= (n.782+621T=) c.572T= (p.Leu191=) c.28T= c.851T= (p.Leu284=) c.491T= (p.Leu164=) c.935T= (p.Leu312=) | |
| 17 | g.7673560A>C | CA397835852 | TP53 | c.968T>G (p.Leu323Arg) c.782+621T>G (n.782+621T>G) c.572T>G (p.Leu191Arg) c.28T>G c.851T>G (p.Leu284Arg) c.491T>G (p.Leu164Arg) c.935T>G (p.Leu312Arg) | COSMIC |
| 17 | g.7673560A>G | CA397835853 | TP53 | c.968T>C (p.Leu323Pro) c.782+621T>C (n.782+621T>C) c.572T>C (p.Leu191Pro) c.28T>C c.851T>C (p.Leu284Pro) c.491T>C (p.Leu164Pro) c.935T>C (p.Leu312Pro) | ClinVar COSMIC |
| 17 | g.7673560A>T | CA397835857 | TP53 | c.968T>A (p.Leu323Gln) c.782+621T>A (n.782+621T>A) c.572T>A (p.Leu191Gln) c.28T>A c.851T>A (p.Leu284Gln) c.491T>A (p.Leu164Gln) c.935T>A (p.Leu312Gln) | |
| 17 | g.7673560_7673561delinsCC | CA645587352 | TP53 | c.967_968delinsGG (p.Leu323Gly) c.782+620_782+621delinsGG (n.782+620_782+621delinsGG) c.571_572delinsGG (p.Leu191Gly) c.27_28delinsGG c.850_851delinsGG (p.Leu284Gly) c.490_491delinsGG (p.Leu164Gly) c.934_935delinsGG (p.Leu312Gly) | COSMIC |
| 17 | g.7673562_7673586del | CA645587353 | TP53 | c.944_968del (p.Ser315TrpfsTer22) c.944_968del (p.Ser315TrpfsTer29) c.782+597_782+621del (n.782+597_782+621del) c.944_968del (p.Ser315TrpfsTer28) c.944_968del (p.Ser315TrpfsTer20) c.548_572del (p.Ser183TrpfsTer20) c.548_572del (p.Ser183TrpfsTer22) c.548_572del (p.Ser183TrpfsTer?) c.548_572del (p.Ser183TrpfsTer28) c.4_28del c.827_851del (p.Ser276TrpfsTer22) c.827_851del (p.Ser276TrpfsTer20) c.467_491del (p.Ser156TrpfsTer20) c.911_935del (p.Ser304TrpfsTer22) c.467_491del (p.Ser156TrpfsTer28) c.467_491del (p.Ser156TrpfsTer22) c.827_851del (p.Ser276TrpfsTer28) | COSMIC |
| 17 | g.7673561del | CA497713940 | TP53 | c.967del (p.Leu323TrpfsTer22) c.967del (p.Leu323TrpfsTer29) c.782+620del (n.782+620del) c.967del (p.Leu323TrpfsTer28) c.967del (p.Leu323TrpfsTer20) c.571del (p.Leu191TrpfsTer20) c.571del (p.Leu191TrpfsTer22) c.571del (p.Leu191TrpfsTer?) c.571del (p.Leu191TrpfsTer28) c.27del c.850del (p.Leu284TrpfsTer22) c.850del (p.Leu284TrpfsTer20) c.490del (p.Leu164TrpfsTer20) c.934del (p.Leu312TrpfsTer22) c.490del (p.Leu164TrpfsTer28) c.490del (p.Leu164TrpfsTer22) c.850del (p.Leu284TrpfsTer28) | COSMIC |
| 17 | g.7673561G>A | CA497713934 | TP53 | c.967C>T (p.Leu323=) c.782+620C>T (n.782+620C>T) c.571C>T (p.Leu191=) c.27C>T c.850C>T (p.Leu284=) c.490C>T (p.Leu164=) c.934C>T (p.Leu312=) | |
| 17 | g.7673561G>C | CA397835860 | TP53 | c.967C>G (p.Leu323Val) c.782+620C>G (n.782+620C>G) c.571C>G (p.Leu191Val) c.27C>G c.850C>G (p.Leu284Val) c.490C>G (p.Leu164Val) c.934C>G (p.Leu312Val) | gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7673561G= | CA2245947652 | TP53 | c.967C= (p.Leu323=) c.782+620C= (n.782+620C=) c.571C= (p.Leu191=) c.27C= c.850C= (p.Leu284=) c.490C= (p.Leu164=) c.934C= (p.Leu312=) | |
| 17 | g.7673561G>T | CA397835867 | TP53 | c.967C>A (p.Leu323Met) c.782+620C>A (n.782+620C>A) c.571C>A (p.Leu191Met) c.27C>A c.850C>A (p.Leu284Met) c.490C>A (p.Leu164Met) c.934C>A (p.Leu312Met) | COSMIC |
| 17 | g.7673562T>A | CA497713943 | TP53 | c.966A>T (p.Pro322=) c.782+619A>T (n.782+619A>T) c.570A>T (p.Pro190=) c.26A>T c.849A>T (p.Pro283=) c.489A>T (p.Pro163=) c.933A>T (p.Pro311=) | |
| 17 | g.7673562T>C | CA497713945 | TP53 | c.966A>G (p.Pro322=) c.782+619A>G (n.782+619A>G) c.570A>G (p.Pro190=) c.26A>G c.849A>G (p.Pro283=) c.489A>G (p.Pro163=) c.933A>G (p.Pro311=) | ClinVar |
| 17 | g.7673562T>G | CA497713950 | TP53 | c.966A>C (p.Pro322=) c.782+619A>C (n.782+619A>C) c.570A>C (p.Pro190=) c.26A>C c.849A>C (p.Pro283=) c.489A>C (p.Pro163=) c.933A>C (p.Pro311=) | ClinVar |
| 17 | g.7673562dup | CA2245947657 | TP53 | c.966dup (p.Leu323ThrfsTer14) c.966dup (p.Leu323ThrfsTer?) c.782+619dup (n.782+619dup) c.966dup (p.Leu323ThrfsTer24) c.966dup (p.Leu323ThrfsTer13) c.570dup (p.Leu191ThrfsTer13) c.570dup (p.Leu191ThrfsTer14) c.570dup (p.Leu191ThrfsTer?) c.570dup (p.Leu191ThrfsTer24) c.26dup c.849dup (p.Leu284ThrfsTer14) c.849dup (p.Leu284ThrfsTer13) c.489dup (p.Leu164ThrfsTer13) c.933dup (p.Leu312ThrfsTer14) c.489dup (p.Leu164ThrfsTer24) c.489dup (p.Leu164ThrfsTer14) c.849dup (p.Leu284ThrfsTer24) | dbSNP |
| 17 | g.7673563G>A | CA397835873 | TP53 | c.965C>T (p.Pro322Leu) c.782+618C>T (n.782+618C>T) c.569C>T (p.Pro190Leu) c.25C>T c.848C>T (p.Pro283Leu) c.488C>T (p.Pro163Leu) c.932C>T (p.Pro311Leu) | COSMIC |