| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112815527_112815542delinsCAGTGTTTTGAGTTCT | CA1573484656 | APC | c.867_882delinsCAGTGTTTTGAGTTCT (p.Ala289=) n.923_938delinsCAGTGTTTTGAGTTCT c.*873_*888delinsCAGTGTTTTGAGTTCT (n.*873_*888delinsCAGTGTTTTGAGTTCT) c.813_828delinsCAGTGTTTTGAGTTCT (p.Ala271=) c.*189_*204delinsCAGTGTTTTGAGTTCT (n.*189_*204delinsCAGTGTTTTGAGTTCT) c.897_912delinsCAGTGTTTTGAGTTCT (p.Ala299=) c.792_807delinsCAGTGTTTTGAGTTCT (p.Ala264=) c.783_798delinsCAGTGTTTTGAGTTCT (p.Ala261=) c.690_705delinsCAGTGTTTTGAGTTCT (p.Ala230=) c.18_33delinsCAGTGTTTTGAGTTCT (p.Ala6=) | |
| 5 | g.112815531_112815545del | CA915943467 | APC | c.871_885del (p.Val291_Ser295del) n.927_941del c.*877_*891del (n.*877_*891del) c.817_831del (p.Val273_Ser277del) c.*193_*207del (n.*193_*207del) c.901_915del (p.Val301_Ser305del) c.796_810del (p.Val266_Ser270del) c.787_801del (p.Val263_Ser267del) c.694_708del (p.Val232_Ser236del) c.22_36del (p.Val8_Ser12del) | ClinVar dbSNP |
| 5 | g.112815530_112815537delinsTGTTTTGA | CA1573484691 | APC | c.870_877delinsTGTTTTGA (p.Ser290=) n.926_933delinsTGTTTTGA c.*876_*883delinsTGTTTTGA (n.*876_*883delinsTGTTTTGA) c.816_823delinsTGTTTTGA (p.Ser272=) c.*192_*199delinsTGTTTTGA (n.*192_*199delinsTGTTTTGA) c.900_907delinsTGTTTTGA (p.Ser300=) c.795_802delinsTGTTTTGA (p.Ser265=) c.786_793delinsTGTTTTGA (p.Ser262=) c.693_700delinsTGTTTTGA (p.Ser231=) c.21_28delinsTGTTTTGA (p.Ser7=) | |
| 5 | g.112815534_112815540del | CA16611758 | APC | c.874_880del (p.Ser293ValfsTer10) n.930_936del c.*880_*886del (n.*880_*886del) c.820_826del (p.Ser275ValfsTer10) c.*196_*202del (n.*196_*202del) c.904_910del (p.Ser303ValfsTer10) c.799_805del (p.Ser268ValfsTer10) c.790_796del (p.Ser265ValfsTer10) c.697_703del (p.Ser234ValfsTer10) c.25_31del (p.Ser10ValfsTer10) | ClinVar dbSNP |
| 5 | g.112815535dup | CA445755690 | APC | c.875dup (p.Leu292PhefsTer4) n.931dup c.*881dup (n.*881dup) c.821dup (p.Leu274PhefsTer4) c.*197dup (n.*197dup) c.905dup (p.Leu302PhefsTer4) c.800dup (p.Leu267PhefsTer4) c.791dup (p.Leu264PhefsTer4) c.698dup (p.Leu233PhefsTer4) c.26dup (p.Leu9PhefsTer4) | ClinVar dbSNP COSMIC |
| 5 | g.112815535del | CA916080339 | APC | c.875del (p.Leu292Ter) n.931del c.*881del (n.*881del) c.821del (p.Leu274Ter) c.*197del (n.*197del) c.905del (p.Leu302Ter) c.800del (p.Leu267Ter) c.791del (p.Leu264Ter) c.698del (p.Leu233Ter) c.26del (p.Leu9Ter) | ClinVar dbSNP |
| 5 | g.112815534_112815535del | CA2697546395 | APC | c.874_875del (p.Leu292GlufsTer3) n.930_931del c.*880_*881del (n.*880_*881del) c.820_821del (p.Leu274GlufsTer3) c.*196_*197del (n.*196_*197del) c.904_905del (p.Leu302GlufsTer3) c.799_800del (p.Leu267GlufsTer3) c.790_791del (p.Leu264GlufsTer3) c.697_698del (p.Leu233GlufsTer3) c.25_26del (p.Leu9GlufsTer3) | ClinVar |
| 5 | g.112815534T>A | CA16023229 | APC | c.874T>A (p.Leu292Met) n.930T>A c.*880T>A (n.*880T>A) c.820T>A (p.Leu274Met) c.*196T>A (n.*196T>A) c.904T>A (p.Leu302Met) c.799T>A (p.Leu267Met) c.790T>A (p.Leu264Met) c.697T>A (p.Leu233Met) c.25T>A (p.Leu9Met) | dbSNP |
| 5 | g.112815534T>C | CA445755694 | APC | c.874T>C (p.Leu292=) n.930T>C c.*880T>C (n.*880T>C) c.820T>C (p.Leu274=) c.*196T>C (n.*196T>C) c.904T>C (p.Leu302=) c.799T>C (p.Leu267=) c.790T>C (p.Leu264=) c.697T>C (p.Leu233=) c.25T>C (p.Leu9=) | |
| 5 | g.112815534T>G | CA16023230 | APC | c.874T>G (p.Leu292Val) n.930T>G c.*880T>G (n.*880T>G) c.820T>G (p.Leu274Val) c.*196T>G (n.*196T>G) c.904T>G (p.Leu302Val) c.799T>G (p.Leu267Val) c.790T>G (p.Leu264Val) c.697T>G (p.Leu233Val) c.25T>G (p.Leu9Val) | |
| 5 | g.112815535T>A | CA10578301 | APC | c.875T>A (p.Leu292Ter) n.931T>A c.*881T>A (n.*881T>A) c.821T>A (p.Leu274Ter) c.*197T>A (n.*197T>A) c.905T>A (p.Leu302Ter) c.800T>A (p.Leu267Ter) c.791T>A (p.Leu264Ter) c.698T>A (p.Leu233Ter) c.26T>A (p.Leu9Ter) | ClinVar dbSNP |
| 5 | g.112815535T>C | CA16023231 | APC | c.875T>C (p.Leu292Ser) n.931T>C c.*881T>C (n.*881T>C) c.821T>C (p.Leu274Ser) c.*197T>C (n.*197T>C) c.905T>C (p.Leu302Ser) c.800T>C (p.Leu267Ser) c.791T>C (p.Leu264Ser) c.698T>C (p.Leu233Ser) c.26T>C (p.Leu9Ser) | |
| 5 | g.112815535T>G | CA16023232 | APC | c.875T>G (p.Leu292Trp) n.931T>G c.*881T>G (n.*881T>G) c.821T>G (p.Leu274Trp) c.*197T>G (n.*197T>G) c.905T>G (p.Leu302Trp) c.800T>G (p.Leu267Trp) c.791T>G (p.Leu264Trp) c.698T>G (p.Leu233Trp) c.26T>G (p.Leu9Trp) | ClinVar |
| 5 | g.112815535T= | CA1573484720 | APC | c.875T= (p.Leu292=) n.931T= c.*881T= (n.*881T=) c.821T= (p.Leu274=) c.*197T= (n.*197T=) c.905T= (p.Leu302=) c.800T= (p.Leu267=) c.791T= (p.Leu264=) c.698T= (p.Leu233=) c.26T= (p.Leu9=) | |
| 5 | g.112815536G>A | CA445755695 | APC | c.876G>A (p.Leu292=) n.932G>A c.*882G>A (n.*882G>A) c.822G>A (p.Leu274=) c.*198G>A (n.*198G>A) c.906G>A (p.Leu302=) c.801G>A (p.Leu267=) c.792G>A (p.Leu264=) c.699G>A (p.Leu233=) c.27G>A (p.Leu9=) | dbSNP |
| 5 | g.112815536G>C | CA16023233 | APC | c.876G>C (p.Leu292Phe) n.932G>C c.*882G>C (n.*882G>C) c.822G>C (p.Leu274Phe) c.*198G>C (n.*198G>C) c.906G>C (p.Leu302Phe) c.801G>C (p.Leu267Phe) c.792G>C (p.Leu264Phe) c.699G>C (p.Leu233Phe) c.27G>C (p.Leu9Phe) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112815536G= | CA1573484730 | APC | c.876G= (p.Leu292=) n.932G= c.*882G= (n.*882G=) c.822G= (p.Leu274=) c.*198G= (n.*198G=) c.906G= (p.Leu302=) c.801G= (p.Leu267=) c.792G= (p.Leu264=) c.699G= (p.Leu233=) c.27G= (p.Leu9=) | |
| 5 | g.112815536G>T | CA051023 | APC | c.876G>T (p.Leu292Phe) n.932G>T c.*882G>T (n.*882G>T) c.822G>T (p.Leu274Phe) c.*198G>T (n.*198G>T) c.906G>T (p.Leu302Phe) c.801G>T (p.Leu267Phe) c.792G>T (p.Leu264Phe) c.699G>T (p.Leu233Phe) c.27G>T (p.Leu9Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.112815537del | CA658760480 | APC | c.877del (p.Ser293ValfsTer12) n.933del c.*883del (n.*883del) c.823del (p.Ser275ValfsTer12) c.*199del (n.*199del) c.907del (p.Ser303ValfsTer12) c.802del (p.Ser268ValfsTer12) c.793del (p.Ser265ValfsTer12) c.700del (p.Ser234ValfsTer12) c.28del (p.Ser10ValfsTer12) | |
| 5 | g.112815537A>C | CA16023234 | APC | c.877A>C (p.Ser293Arg) n.933A>C c.*883A>C (n.*883A>C) c.823A>C (p.Ser275Arg) c.*199A>C (n.*199A>C) c.907A>C (p.Ser303Arg) c.802A>C (p.Ser268Arg) c.793A>C (p.Ser265Arg) c.700A>C (p.Ser234Arg) c.28A>C (p.Ser10Arg) | |
| 5 | g.112815537A>G | CA16023235 | APC | c.877A>G (p.Ser293Gly) n.933A>G c.*883A>G (n.*883A>G) c.823A>G (p.Ser275Gly) c.*199A>G (n.*199A>G) c.907A>G (p.Ser303Gly) c.802A>G (p.Ser268Gly) c.793A>G (p.Ser265Gly) c.700A>G (p.Ser234Gly) c.28A>G (p.Ser10Gly) | dbSNP |
| 5 | g.112815537A>T | CA16023236 | APC | c.877A>T (p.Ser293Cys) n.933A>T c.*883A>T (n.*883A>T) c.823A>T (p.Ser275Cys) c.*199A>T (n.*199A>T) c.907A>T (p.Ser303Cys) c.802A>T (p.Ser268Cys) c.793A>T (p.Ser265Cys) c.700A>T (p.Ser234Cys) c.28A>T (p.Ser10Cys) | dbSNP |
| 5 | g.112815537_112815538delinsAG | CA1573484735 | APC | c.877_878delinsAG (p.Ser293=) n.933_934delinsAG c.*883_*884delinsAG (n.*883_*884delinsAG) c.823_824delinsAG (p.Ser275=) c.*199_*200delinsAG (n.*199_*200delinsAG) c.907_908delinsAG (p.Ser303=) c.802_803delinsAG (p.Ser268=) c.793_794delinsAG (p.Ser265=) c.700_701delinsAG (p.Ser234=) c.28_29delinsAG (p.Ser10=) | |
| 5 | g.112815538del | CA915943468 | APC | c.878del (p.Ser293IlefsTer12) n.934del c.*884del (n.*884del) c.824del (p.Ser275IlefsTer12) c.*200del (n.*200del) c.908del (p.Ser303IlefsTer12) c.803del (p.Ser268IlefsTer12) c.794del (p.Ser265IlefsTer12) c.701del (p.Ser234IlefsTer12) c.29del (p.Ser10IlefsTer12) | ClinVar dbSNP |
| 5 | g.112815538G>A | CA16023237 | APC | c.878G>A (p.Ser293Asn) n.934G>A c.*884G>A (n.*884G>A) c.824G>A (p.Ser275Asn) c.*200G>A (n.*200G>A) c.908G>A (p.Ser303Asn) c.803G>A (p.Ser268Asn) c.794G>A (p.Ser265Asn) c.701G>A (p.Ser234Asn) c.29G>A (p.Ser10Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112815538G>C | CA16023238 | APC | c.878G>C (p.Ser293Thr) n.934G>C c.*884G>C (n.*884G>C) c.824G>C (p.Ser275Thr) c.*200G>C (n.*200G>C) c.908G>C (p.Ser303Thr) c.803G>C (p.Ser268Thr) c.794G>C (p.Ser265Thr) c.701G>C (p.Ser234Thr) c.29G>C (p.Ser10Thr) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112815538G= | CA1573484743 | APC | c.878G= (p.Ser293=) n.934G= c.*884G= (n.*884G=) c.824G= (p.Ser275=) c.*200G= (n.*200G=) c.908G= (p.Ser303=) c.803G= (p.Ser268=) c.794G= (p.Ser265=) c.701G= (p.Ser234=) c.29G= (p.Ser10=) | |
| 5 | g.112815538G>T | CA16023239 | APC | c.878G>T (p.Ser293Ile) n.934G>T c.*884G>T (n.*884G>T) c.824G>T (p.Ser275Ile) c.*200G>T (n.*200G>T) c.908G>T (p.Ser303Ile) c.803G>T (p.Ser268Ile) c.794G>T (p.Ser265Ile) c.701G>T (p.Ser234Ile) c.29G>T (p.Ser10Ile) | ClinVar dbSNP |
| 5 | g.112815539T>A | CA16023240 | APC | c.879T>A (p.Ser293Arg) n.935T>A c.*885T>A (n.*885T>A) c.825T>A (p.Ser275Arg) c.*201T>A (n.*201T>A) c.909T>A (p.Ser303Arg) c.804T>A (p.Ser268Arg) c.795T>A (p.Ser265Arg) c.702T>A (p.Ser234Arg) c.30T>A (p.Ser10Arg) | dbSNP |
| 5 | g.112815539T>C | CA445755696 | APC | c.879T>C (p.Ser293=) n.935T>C c.*885T>C (n.*885T>C) c.825T>C (p.Ser275=) c.*201T>C (n.*201T>C) c.909T>C (p.Ser303=) c.804T>C (p.Ser268=) c.795T>C (p.Ser265=) c.702T>C (p.Ser234=) c.30T>C (p.Ser10=) | |
| 5 | g.112815539T>G | CA16023241 | APC | c.879T>G (p.Ser293Arg) n.935T>G c.*885T>G (n.*885T>G) c.825T>G (p.Ser275Arg) c.*201T>G (n.*201T>G) c.909T>G (p.Ser303Arg) c.804T>G (p.Ser268Arg) c.795T>G (p.Ser265Arg) c.702T>G (p.Ser234Arg) c.30T>G (p.Ser10Arg) | ClinVar |
| 5 | g.112815540del | CA658760481 | APC | c.880del (p.Ser294LeufsTer11) n.936del c.*886del (n.*886del) c.826del (p.Ser276LeufsTer11) c.*202del (n.*202del) c.910del (p.Ser304LeufsTer11) c.805del (p.Ser269LeufsTer11) c.796del (p.Ser266LeufsTer11) c.703del (p.Ser235LeufsTer11) c.31del (p.Ser11LeufsTer11) | |
| 5 | g.112815540T>A | CA16023242 | APC | c.880T>A (p.Ser294Thr) n.936T>A c.*886T>A (n.*886T>A) c.826T>A (p.Ser276Thr) c.*202T>A (n.*202T>A) c.910T>A (p.Ser304Thr) c.805T>A (p.Ser269Thr) c.796T>A (p.Ser266Thr) c.703T>A (p.Ser235Thr) c.31T>A (p.Ser11Thr) | |
| 5 | g.112815540T>C | CA16023243 | APC | c.880T>C (p.Ser294Pro) n.936T>C c.*886T>C (n.*886T>C) c.826T>C (p.Ser276Pro) c.*202T>C (n.*202T>C) c.910T>C (p.Ser304Pro) c.805T>C (p.Ser269Pro) c.796T>C (p.Ser266Pro) c.703T>C (p.Ser235Pro) c.31T>C (p.Ser11Pro) | |
| 5 | g.112815540T>G | CA16023244 | APC | c.880T>G (p.Ser294Ala) n.936T>G c.*886T>G (n.*886T>G) c.826T>G (p.Ser276Ala) c.*202T>G (n.*202T>G) c.910T>G (p.Ser304Ala) c.805T>G (p.Ser269Ala) c.796T>G (p.Ser266Ala) c.703T>G (p.Ser235Ala) c.31T>G (p.Ser11Ala) | ClinVar dbSNP |
| 5 | g.112815540T= | CA1573484753 | APC | c.880T= (p.Ser294=) n.936T= c.*886T= (n.*886T=) c.826T= (p.Ser276=) c.*202T= (n.*202T=) c.910T= (p.Ser304=) c.805T= (p.Ser269=) c.796T= (p.Ser266=) c.703T= (p.Ser235=) c.31T= (p.Ser11=) | |
| 5 | g.112815540_112815541delinsTC | CA1573484748 | APC | c.880_881delinsTC (p.Ser294=) n.936_937delinsTC c.*886_*887delinsTC (n.*886_*887delinsTC) c.826_827delinsTC (p.Ser276=) c.*202_*203delinsTC (n.*202_*203delinsTC) c.910_911delinsTC (p.Ser304=) c.805_806delinsTC (p.Ser269=) c.796_797delinsTC (p.Ser266=) c.703_704delinsTC (p.Ser235=) c.31_32delinsTC (p.Ser11=) | |
| 5 | g.112815541del | CA915943469 | APC | c.881del (p.Ser294LeufsTer11) n.937del c.*887del (n.*887del) c.827del (p.Ser276LeufsTer11) c.*203del (n.*203del) c.911del (p.Ser304LeufsTer11) c.806del (p.Ser269LeufsTer11) c.797del (p.Ser266LeufsTer11) c.704del (p.Ser235LeufsTer11) c.32del (p.Ser11LeufsTer11) | ClinVar dbSNP |
| 5 | g.112815541C>A | CA16023245 | APC | c.881C>A (p.Ser294Tyr) n.937C>A c.*887C>A (n.*887C>A) c.827C>A (p.Ser276Tyr) c.*203C>A (n.*203C>A) c.911C>A (p.Ser304Tyr) c.806C>A (p.Ser269Tyr) c.797C>A (p.Ser266Tyr) c.704C>A (p.Ser235Tyr) c.32C>A (p.Ser11Tyr) | dbSNP |
| 5 | g.112815541C>G | CA16023246 | APC | c.881C>G (p.Ser294Cys) n.937C>G c.*887C>G (n.*887C>G) c.827C>G (p.Ser276Cys) c.*203C>G (n.*203C>G) c.911C>G (p.Ser304Cys) c.806C>G (p.Ser269Cys) c.797C>G (p.Ser266Cys) c.704C>G (p.Ser235Cys) c.32C>G (p.Ser11Cys) | ClinVar dbSNP |
| 5 | g.112815541C>T | CA16023247 | APC | c.881C>T (p.Ser294Phe) n.937C>T c.*887C>T (n.*887C>T) c.827C>T (p.Ser276Phe) c.*203C>T (n.*203C>T) c.911C>T (p.Ser304Phe) c.806C>T (p.Ser269Phe) c.797C>T (p.Ser266Phe) c.704C>T (p.Ser235Phe) c.32C>T (p.Ser11Phe) | dbSNP COSMIC |
| 5 | g.112815542T>A | CA445755697 | APC | c.882T>A (p.Ser294=) n.938T>A c.*888T>A (n.*888T>A) c.828T>A (p.Ser276=) c.*204T>A (n.*204T>A) c.912T>A (p.Ser304=) c.807T>A (p.Ser269=) c.798T>A (p.Ser266=) c.705T>A (p.Ser235=) c.33T>A (p.Ser11=) | dbSNP |
| 5 | g.112815542T>C | CA445755698 | APC | c.882T>C (p.Ser294=) n.938T>C c.*888T>C (n.*888T>C) c.828T>C (p.Ser276=) c.*204T>C (n.*204T>C) c.912T>C (p.Ser304=) c.807T>C (p.Ser269=) c.798T>C (p.Ser266=) c.705T>C (p.Ser235=) c.33T>C (p.Ser11=) | ClinVar dbSNP |
| 5 | g.112815542T>G | CA445755699 | APC | c.882T>G (p.Ser294=) n.938T>G c.*888T>G (n.*888T>G) c.828T>G (p.Ser276=) c.*204T>G (n.*204T>G) c.912T>G (p.Ser304=) c.807T>G (p.Ser269=) c.798T>G (p.Ser266=) c.705T>G (p.Ser235=) c.33T>G (p.Ser11=) | |
| 5 | g.112815543A= | CA1573484774 | APC | c.883A= (p.Ser295=) n.939A= c.*889A= (n.*889A=) c.829A= (p.Ser277=) c.*205A= (n.*205A=) c.913A= (p.Ser305=) c.808A= (p.Ser270=) c.799A= (p.Ser267=) c.706A= (p.Ser236=) c.34A= (p.Ser12=) | |
| 5 | g.112815543A>C | CA16023248 | APC | c.883A>C (p.Ser295Arg) n.939A>C c.*889A>C (n.*889A>C) c.829A>C (p.Ser277Arg) c.*205A>C (n.*205A>C) c.913A>C (p.Ser305Arg) c.808A>C (p.Ser270Arg) c.799A>C (p.Ser267Arg) c.706A>C (p.Ser236Arg) c.34A>C (p.Ser12Arg) | |
| 5 | g.112815543A>G | CA015623 | APC | c.883A>G (p.Ser295Gly) n.939A>G c.*889A>G (n.*889A>G) c.829A>G (p.Ser277Gly) c.*205A>G (n.*205A>G) c.913A>G (p.Ser305Gly) c.808A>G (p.Ser270Gly) c.799A>G (p.Ser267Gly) c.706A>G (p.Ser236Gly) c.34A>G (p.Ser12Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112815543A>T | CA16023249 | APC | c.883A>T (p.Ser295Cys) n.939A>T c.*889A>T (n.*889A>T) c.829A>T (p.Ser277Cys) c.*205A>T (n.*205A>T) c.913A>T (p.Ser305Cys) c.808A>T (p.Ser270Cys) c.799A>T (p.Ser267Cys) c.706A>T (p.Ser236Cys) c.34A>T (p.Ser12Cys) | dbSNP |
| 5 | g.112815544G>A | CA16023250 | APC | c.884G>A (p.Ser295Asn) n.940G>A c.*890G>A (n.*890G>A) c.830G>A (p.Ser277Asn) c.*206G>A (n.*206G>A) c.914G>A (p.Ser305Asn) c.809G>A (p.Ser270Asn) c.800G>A (p.Ser267Asn) c.707G>A (p.Ser236Asn) c.35G>A (p.Ser12Asn) | ClinVar |
| 5 | g.112815544G>C | CA16023251 | APC | c.884G>C (p.Ser295Thr) n.940G>C c.*890G>C (n.*890G>C) c.830G>C (p.Ser277Thr) c.*206G>C (n.*206G>C) c.914G>C (p.Ser305Thr) c.809G>C (p.Ser270Thr) c.800G>C (p.Ser267Thr) c.707G>C (p.Ser236Thr) c.35G>C (p.Ser12Thr) | dbSNP |