Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.7669589_7676614delCA2499224945TP53c.-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
17g.7669608_7669622delinsTCA2695202450TP53c.1169_*1delinsA (n.[c.1169_*1delinsA;Pro390GlnfsTer?])
c.773_*1delinsA (n.[c.773_*1delinsA;Pro258GlnfsTer?])
c.890_*1delinsA (n.[c.890_*1delinsA;Pro297GlnfsTer?])
c.1148_*1delinsA (n.[c.1148_*1delinsA;Pro383GlnfsTer?])
c.994-3378_994-3364delinsA (n.994-3378_994-3364delinsA)
c.782+4559_782+4573delinsA (n.782+4559_782+4573delinsA)
c.*276_*290delinsA (n.*276_*290delinsA)
c.*188_*202delinsA (n.*188_*202delinsA)
c.122_136delinsA
c.1052_*1delinsA (n.[c.1052_*1delinsA;Pro351GlnfsTer?])
c.692_*1delinsA (n.[c.692_*1delinsA;Pro231GlnfsTer?])
c.983+987_983+1001delinsA (n.983+987_983+1001delinsA)
17g.7669609_7669690delCA2581463482TP53c.1102_*1del (n.[c.1102_*1del;His368IlefsTer27])
c.706_*1del (n.[c.706_*1del;His236IlefsTer27])
c.823_*1del (n.[c.823_*1del;His275IlefsTer27])
c.1081_*1del (n.[c.1081_*1del;His361IlefsTer27])
c.994-3445_994-3364del (n.994-3445_994-3364del)
c.782+4492_782+4573del (n.782+4492_782+4573del)
c.*209_*290del (n.*209_*290del)
c.*121_*202del (n.*121_*202del)
c.55_136del
c.985_*1del (n.[c.985_*1del;His329IlefsTer27])
c.625_*1del (n.[c.625_*1del;His209IlefsTer27])
c.983+920_983+1001del (n.983+920_983+1001del)
17g.7669609_7676594delCA2581463470TP53c.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
17g.7669610C>ACA397829921TP53c.1181G>T (p.Ter394Leu)
c.785G>T (p.Ter262Leu)
c.902G>T (p.Ter301Leu)
c.1160G>T (p.Ter387Leu)
c.994-3366G>T (n.994-3366G>T)
c.782+4571G>T (n.782+4571G>T)
c.*288G>T (n.*288G>T)
c.*200G>T (n.*200G>T)
c.134G>T
c.1064G>T (p.Ter355Leu)
c.1148G>T (p.Ter383Leu)
c.704G>T (p.Ter235Leu)
c.983+999G>T (n.983+999G>T)
dbSNP
17g.7669610C>GCA397829924TP53c.1181G>C (p.Ter394Ser)
c.785G>C (p.Ter262Ser)
c.902G>C (p.Ter301Ser)
c.1160G>C (p.Ter387Ser)
c.994-3366G>C (n.994-3366G>C)
c.782+4571G>C (n.782+4571G>C)
c.*288G>C (n.*288G>C)
c.*200G>C (n.*200G>C)
c.134G>C
c.1064G>C (p.Ter355Ser)
c.1148G>C (p.Ter383Ser)
c.704G>C (p.Ter235Ser)
c.983+999G>C (n.983+999G>C)
dbSNP
17g.7669610C>TCA497711106TP53c.1181G>A (p.Ter394=)
c.785G>A (p.Ter262=)
c.902G>A (p.Ter301=)
c.1160G>A (p.Ter387=)
c.994-3366G>A (n.994-3366G>A)
c.782+4571G>A (n.782+4571G>A)
c.*288G>A (n.*288G>A)
c.*200G>A (n.*200G>A)
c.134G>A
c.1064G>A (p.Ter355=)
c.1148G>A (p.Ter383=)
c.704G>A (p.Ter235=)
c.983+999G>A (n.983+999G>A)
dbSNP
17g.7669611_7669681dupCA2573154464TP53c.1111_1181dup (p.Ter394CysextTer52)
c.715_785dup (p.Ter262CysextTer52)
c.832_902dup (p.Ter301CysextTer52)
c.1090_1160dup (p.Ter387CysextTer52)
c.994-3436_994-3366dup (n.994-3436_994-3366dup)
c.782+4501_782+4571dup (n.782+4501_782+4571dup)
c.*218_*288dup (n.*218_*288dup)
c.*130_*200dup (n.*130_*200dup)
c.64_134dup
c.994_1064dup (p.Ter355CysextTer52)
c.1078_1148dup (p.Ter383CysextTer?)
c.634_704dup (p.Ter235CysextTer52)
c.983+929_983+999dup (n.983+929_983+999dup)
ClinVar dbSNP
17g.7669611A=CA2245940439TP53c.1180T= (p.Ter394=)
c.784T= (p.Ter262=)
c.901T= (p.Ter301=)
c.1159T= (p.Ter387=)
c.994-3367T= (n.994-3367T=)
c.782+4570T= (n.782+4570T=)
c.*287T= (n.*287T=)
c.*199T= (n.*199T=)
c.133T=
c.1063T= (p.Ter355=)
c.1147T= (p.Ter383=)
c.703T= (p.Ter235=)
c.983+998T= (n.983+998T=)
17g.7669611A>CCA397829928TP53c.1180T>G (p.Ter394Gly)
c.784T>G (p.Ter262Gly)
c.901T>G (p.Ter301Gly)
c.1159T>G (p.Ter387Gly)
c.994-3367T>G (n.994-3367T>G)
c.782+4570T>G (n.782+4570T>G)
c.*287T>G (n.*287T>G)
c.*199T>G (n.*199T>G)
c.133T>G
c.1063T>G (p.Ter355Gly)
c.1147T>G (p.Ter383Gly)
c.703T>G (p.Ter235Gly)
c.983+998T>G (n.983+998T>G)
ClinVar dbSNP
17g.7669611A>GCA397829929TP53c.1180T>C (p.Ter394Arg)
c.784T>C (p.Ter262Arg)
c.901T>C (p.Ter301Arg)
c.1159T>C (p.Ter387Arg)
c.994-3367T>C (n.994-3367T>C)
c.782+4570T>C (n.782+4570T>C)
c.*287T>C (n.*287T>C)
c.*199T>C (n.*199T>C)
c.133T>C
c.1063T>C (p.Ter355Arg)
c.1147T>C (p.Ter383Arg)
c.703T>C (p.Ter235Arg)
c.983+998T>C (n.983+998T>C)
ClinVar dbSNP
17g.7669611A>TCA397829931TP53c.1180T>A (p.Ter394Arg)
c.784T>A (p.Ter262Arg)
c.901T>A (p.Ter301Arg)
c.1159T>A (p.Ter387Arg)
c.994-3367T>A (n.994-3367T>A)
c.782+4570T>A (n.782+4570T>A)
c.*287T>A (n.*287T>A)
c.*199T>A (n.*199T>A)
c.133T>A
c.1063T>A (p.Ter355Arg)
c.1147T>A (p.Ter383Arg)
c.703T>A (p.Ter235Arg)
c.983+998T>A (n.983+998T>A)
ClinVar dbSNP
17g.7669612G>ACA497711112TP53c.1179C>T (p.Asp393=)
c.783C>T (p.Asp261=)
c.900C>T (p.Asp300=)
c.1158C>T (p.Asp386=)
c.994-3368C>T (n.994-3368C>T)
c.782+4569C>T (n.782+4569C>T)
c.*286C>T (n.*286C>T)
c.*198C>T (n.*198C>T)
c.132C>T
c.1062C>T (p.Asp354=)
c.1146C>T (p.Asp382=)
c.702C>T (p.Asp234=)
c.983+997C>T (n.983+997C>T)
ClinVar dbSNP
17g.7669612G>CCA397829932TP53c.1179C>G (p.Asp393Glu)
c.783C>G (p.Asp261Glu)
c.900C>G (p.Asp300Glu)
c.1158C>G (p.Asp386Glu)
c.994-3368C>G (n.994-3368C>G)
c.782+4569C>G (n.782+4569C>G)
c.*286C>G (n.*286C>G)
c.*198C>G (n.*198C>G)
c.132C>G
c.1062C>G (p.Asp354Glu)
c.1146C>G (p.Asp382Glu)
c.702C>G (p.Asp234Glu)
c.983+997C>G (n.983+997C>G)
ClinVar dbSNP
17g.7669612G=CA2245940451TP53c.1179C= (p.Asp393=)
c.783C= (p.Asp261=)
c.900C= (p.Asp300=)
c.1158C= (p.Asp386=)
c.994-3368C= (n.994-3368C=)
c.782+4569C= (n.782+4569C=)
c.*286C= (n.*286C=)
c.*198C= (n.*198C=)
c.132C=
c.1062C= (p.Asp354=)
c.1146C= (p.Asp382=)
c.702C= (p.Asp234=)
c.983+997C= (n.983+997C=)
17g.7669612G>TCA397829937TP53c.1179C>A (p.Asp393Glu)
c.783C>A (p.Asp261Glu)
c.900C>A (p.Asp300Glu)
c.1158C>A (p.Asp386Glu)
c.994-3368C>A (n.994-3368C>A)
c.782+4569C>A (n.782+4569C>A)
c.*286C>A (n.*286C>A)
c.*198C>A (n.*198C>A)
c.132C>A
c.1062C>A (p.Asp354Glu)
c.1146C>A (p.Asp382Glu)
c.702C>A (p.Asp234Glu)
c.983+997C>A (n.983+997C>A)
17g.7669612dupCA645369640TP53c.1179dup (p.Ter394LeuextTer?)
c.783dup (p.Ter262LeuextTer?)
c.900dup (p.Ter301LeuextTer?)
c.1158dup (p.Ter387LeuextTer?)
c.994-3368dup (n.994-3368dup)
c.782+4569dup (n.782+4569dup)
c.*286dup (n.*286dup)
c.*198dup (n.*198dup)
c.132dup
c.1062dup (p.Ter355LeuextTer?)
c.1146dup (p.Ter383LeuextTer?)
c.702dup (p.Ter235LeuextTer?)
c.983+997dup (n.983+997dup)
ClinVar dbSNP
17g.7669613_7669616delCA645587284TP53c.1176_1179del (p.Ter394IleextTer27)
c.780_783del (p.Ter262IleextTer27)
c.897_900del (p.Ter301IleextTer27)
c.1155_1158del (p.Ter387IleextTer27)
c.994-3371_994-3368del (n.994-3371_994-3368del)
c.782+4566_782+4569del (n.782+4566_782+4569del)
c.*283_*286del (n.*283_*286del)
c.*195_*198del (n.*195_*198del)
c.129_132del
c.1059_1062del (p.Ter355IleextTer27)
c.1143_1146del (p.Ser381=)
c.699_702del (p.Ter235IleextTer27)
c.983+994_983+997del (n.983+994_983+997del)
COSMIC
17g.7669613T>ACA397829951TP53c.1178A>T (p.Asp393Val)
c.782A>T (p.Asp261Val)
c.899A>T (p.Asp300Val)
c.1157A>T (p.Asp386Val)
c.994-3369A>T (n.994-3369A>T)
c.782+4568A>T (n.782+4568A>T)
c.*285A>T (n.*285A>T)
c.*197A>T (n.*197A>T)
c.131A>T
c.1061A>T (p.Asp354Val)
c.1145A>T (p.Asp382Val)
c.701A>T (p.Asp234Val)
c.983+996A>T (n.983+996A>T)
dbSNP gnomAD v4
17g.7669613T>CCA397829952TP53c.1178A>G (p.Asp393Gly)
c.782A>G (p.Asp261Gly)
c.899A>G (p.Asp300Gly)
c.1157A>G (p.Asp386Gly)
c.994-3369A>G (n.994-3369A>G)
c.782+4568A>G (n.782+4568A>G)
c.*285A>G (n.*285A>G)
c.*197A>G (n.*197A>G)
c.131A>G
c.1061A>G (p.Asp354Gly)
c.1145A>G (p.Asp382Gly)
c.701A>G (p.Asp234Gly)
c.983+996A>G (n.983+996A>G)
17g.7669613T>GCA397829953TP53c.1178A>C (p.Asp393Ala)
c.782A>C (p.Asp261Ala)
c.899A>C (p.Asp300Ala)
c.1157A>C (p.Asp386Ala)
c.994-3369A>C (n.994-3369A>C)
c.782+4568A>C (n.782+4568A>C)
c.*285A>C (n.*285A>C)
c.*197A>C (n.*197A>C)
c.131A>C
c.1061A>C (p.Asp354Ala)
c.1145A>C (p.Asp382Ala)
c.701A>C (p.Asp234Ala)
c.983+996A>C (n.983+996A>C)
17g.7669613_7669614delinsTCCA2245940455TP53c.1177_1178delinsGA (p.Asp393=)
c.781_782delinsGA (p.Asp261=)
c.898_899delinsGA (p.Asp300=)
c.1156_1157delinsGA (p.Asp386=)
c.994-3370_994-3369delinsGA (n.994-3370_994-3369delinsGA)
c.782+4567_782+4568delinsGA (n.782+4567_782+4568delinsGA)
c.*284_*285delinsGA (n.*284_*285delinsGA)
c.*196_*197delinsGA (n.*196_*197delinsGA)
c.130_131delinsGA
c.1060_1061delinsGA (p.Asp354=)
c.1144_1145delinsGA (p.Asp382=)
c.700_701delinsGA (p.Asp234=)
c.983+995_983+996delinsGA (n.983+995_983+996delinsGA)
17g.7669614delCA658656516TP53c.1177del (p.Asp393ThrfsTer29)
c.781del (p.Asp261ThrfsTer29)
c.898del (p.Asp300ThrfsTer29)
c.1156del (p.Asp386ThrfsTer29)
c.994-3370del (n.994-3370del)
c.782+4567del (n.782+4567del)
c.*284del (n.*284del)
c.*196del (n.*196del)
c.130del
c.1060del (p.Asp354ThrfsTer29)
c.1144del (p.Asp382ThrfsTer?)
c.700del (p.Asp234ThrfsTer29)
c.983+995del (n.983+995del)
ClinVar dbSNP
17g.7669614C>ACA397829955TP53c.1177G>T (p.Asp393Tyr)
c.781G>T (p.Asp261Tyr)
c.898G>T (p.Asp300Tyr)
c.1156G>T (p.Asp386Tyr)
c.994-3370G>T (n.994-3370G>T)
c.782+4567G>T (n.782+4567G>T)
c.*284G>T (n.*284G>T)
c.*196G>T (n.*196G>T)
c.130G>T
c.1060G>T (p.Asp354Tyr)
c.1144G>T (p.Asp382Tyr)
c.700G>T (p.Asp234Tyr)
c.983+995G>T (n.983+995G>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.7669614C=CA2245940466TP53c.1177G= (p.Asp393=)
c.781G= (p.Asp261=)
c.898G= (p.Asp300=)
c.1156G= (p.Asp386=)
c.994-3370G= (n.994-3370G=)
c.782+4567G= (n.782+4567G=)
c.*284G= (n.*284G=)
c.*196G= (n.*196G=)
c.130G=
c.1060G= (p.Asp354=)
c.1144G= (p.Asp382=)
c.700G= (p.Asp234=)
c.983+995G= (n.983+995G=)
17g.7669614C>GCA397829956TP53c.1177G>C (p.Asp393His)
c.781G>C (p.Asp261His)
c.898G>C (p.Asp300His)
c.1156G>C (p.Asp386His)
c.994-3370G>C (n.994-3370G>C)
c.782+4567G>C (n.782+4567G>C)
c.*284G>C (n.*284G>C)
c.*196G>C (n.*196G>C)
c.130G>C
c.1060G>C (p.Asp354His)
c.1144G>C (p.Asp382His)
c.700G>C (p.Asp234His)
c.983+995G>C (n.983+995G>C)
ClinVar dbSNP gnomAD v4
17g.7669614C>TCA397829958TP53c.1177G>A (p.Asp393Asn)
c.781G>A (p.Asp261Asn)
c.898G>A (p.Asp300Asn)
c.1156G>A (p.Asp386Asn)
c.994-3370G>A (n.994-3370G>A)
c.782+4567G>A (n.782+4567G>A)
c.*284G>A (n.*284G>A)
c.*196G>A (n.*196G>A)
c.130G>A
c.1060G>A (p.Asp354Asn)
c.1144G>A (p.Asp382Asn)
c.700G>A (p.Asp234Asn)
c.983+995G>A (n.983+995G>A)
ClinVar dbSNP gnomAD v4
17g.7669615T>ACA497711130TP53c.1176A>T (p.Ser392=)
c.780A>T (p.Ser260=)
c.897A>T (p.Ser299=)
c.1155A>T (p.Ser385=)
c.994-3371A>T (n.994-3371A>T)
c.782+4566A>T (n.782+4566A>T)
c.*283A>T (n.*283A>T)
c.*195A>T (n.*195A>T)
c.129A>T
c.1059A>T (p.Ser353=)
c.1143A>T (p.Ser381=)
c.699A>T (p.Ser233=)
c.983+994A>T (n.983+994A>T)
17g.7669615T>CCA497711132TP53c.1176A>G (p.Ser392=)
c.780A>G (p.Ser260=)
c.897A>G (p.Ser299=)
c.1155A>G (p.Ser385=)
c.994-3371A>G (n.994-3371A>G)
c.782+4566A>G (n.782+4566A>G)
c.*283A>G (n.*283A>G)
c.*195A>G (n.*195A>G)
c.129A>G
c.1059A>G (p.Ser353=)
c.1143A>G (p.Ser381=)
c.699A>G (p.Ser233=)
c.983+994A>G (n.983+994A>G)
17g.7669615T>GCA497711134TP53c.1176A>C (p.Ser392=)
c.780A>C (p.Ser260=)
c.897A>C (p.Ser299=)
c.1155A>C (p.Ser385=)
c.994-3371A>C (n.994-3371A>C)
c.782+4566A>C (n.782+4566A>C)
c.*283A>C (n.*283A>C)
c.*195A>C (n.*195A>C)
c.129A>C
c.1059A>C (p.Ser353=)
c.1143A>C (p.Ser381=)
c.699A>C (p.Ser233=)
c.983+994A>C (n.983+994A>C)
17g.7669615_7669616insTCTTCA2580094799TP53c.1176_1177insAGAA (p.Asp393ArgfsTer?)
c.780_781insAGAA (p.Asp261ArgfsTer?)
c.897_898insAGAA (p.Asp300ArgfsTer?)
c.1155_1156insAGAA (p.Asp386ArgfsTer?)
c.994-3371_994-3370insAGAA (n.994-3371_994-3370insAGAA)
c.782+4566_782+4567insAGAA (n.782+4566_782+4567insAGAA)
c.*283_*284insAGAA (n.*283_*284insAGAA)
c.*195_*196insAGAA (n.*195_*196insAGAA)
c.129_130insAGAA
c.1059_1060insAGAA (p.Asp354ArgfsTer?)
c.1143_1144insAGAA (p.Asp382ArgfsTer?)
c.699_700insAGAA (p.Asp234ArgfsTer?)
c.983+994_983+995insAGAA (n.983+994_983+995insAGAA)
ClinVar
17g.7669615dupCA645587285TP53c.1176dup (p.Asp393ArgfsTer?)
c.780dup (p.Asp261ArgfsTer?)
c.897dup (p.Asp300ArgfsTer?)
c.1155dup (p.Asp386ArgfsTer?)
c.994-3371dup (n.994-3371dup)
c.782+4566dup (n.782+4566dup)
c.*283dup (n.*283dup)
c.*195dup (n.*195dup)
c.129dup
c.1059dup (p.Asp354ArgfsTer?)
c.1143dup (p.Asp382ArgfsTer?)
c.699dup (p.Asp234ArgfsTer?)
c.983+994dup (n.983+994dup)
ClinVar COSMIC
17g.7669615_7669616insACA497711149TP53c.1175_1176insT (p.Asp393ArgfsTer?)
c.779_780insT (p.Asp261ArgfsTer?)
c.896_897insT (p.Asp300ArgfsTer?)
c.1154_1155insT (p.Asp386ArgfsTer?)
c.994-3372_994-3371insT (n.994-3372_994-3371insT)
c.782+4565_782+4566insT (n.782+4565_782+4566insT)
c.*282_*283insT (n.*282_*283insT)
c.*194_*195insT (n.*194_*195insT)
c.128_129insT
c.1058_1059insT (p.Asp354ArgfsTer?)
c.1142_1143insT (p.Asp382ArgfsTer?)
c.698_699insT (p.Asp234ArgfsTer?)
c.983+993_983+994insT (n.983+993_983+994insT)
17g.7669616G>ACA397829980TP53c.1175C>T (p.Ser392Leu)
c.779C>T (p.Ser260Leu)
c.896C>T (p.Ser299Leu)
c.1154C>T (p.Ser385Leu)
c.994-3372C>T (n.994-3372C>T)
c.782+4565C>T (n.782+4565C>T)
c.*282C>T (n.*282C>T)
c.*194C>T (n.*194C>T)
c.128C>T
c.1058C>T (p.Ser353Leu)
c.1142C>T (p.Ser381Leu)
c.698C>T (p.Ser233Leu)
c.983+993C>T (n.983+993C>T)
dbSNP gnomAD v4 COSMIC
17g.7669616G>CCA397829963TP53c.1175C>G (p.Ser392Ter)
c.779C>G (p.Ser260Ter)
c.896C>G (p.Ser299Ter)
c.1154C>G (p.Ser385Ter)
c.994-3372C>G (n.994-3372C>G)
c.782+4565C>G (n.782+4565C>G)
c.*282C>G (n.*282C>G)
c.*194C>G (n.*194C>G)
c.128C>G
c.1058C>G (p.Ser353Ter)
c.1142C>G (p.Ser381Ter)
c.698C>G (p.Ser233Ter)
c.983+993C>G (n.983+993C>G)
dbSNP
17g.7669616G=CA2245940480TP53c.1175C= (p.Ser392=)
c.779C= (p.Ser260=)
c.896C= (p.Ser299=)
c.1154C= (p.Ser385=)
c.994-3372C= (n.994-3372C=)
c.782+4565C= (n.782+4565C=)
c.*282C= (n.*282C=)
c.*194C= (n.*194C=)
c.128C=
c.1058C= (p.Ser353=)
c.1142C= (p.Ser381=)
c.698C= (p.Ser233=)
c.983+993C= (n.983+993C=)
17g.7669616G>TCA000669TP53c.1175C>A (p.Ser392Ter)
c.779C>A (p.Ser260Ter)
c.896C>A (p.Ser299Ter)
c.1154C>A (p.Ser385Ter)
c.994-3372C>A (n.994-3372C>A)
c.782+4565C>A (n.782+4565C>A)
c.*282C>A (n.*282C>A)
c.*194C>A (n.*194C>A)
c.128C>A
c.1058C>A (p.Ser353Ter)
c.1142C>A (p.Ser381Ter)
c.698C>A (p.Ser233Ter)
c.983+993C>A (n.983+993C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.7669617A>CCA397829988TP53c.1174T>G (p.Ser392Ala)
c.778T>G (p.Ser260Ala)
c.895T>G (p.Ser299Ala)
c.1153T>G (p.Ser385Ala)
c.994-3373T>G (n.994-3373T>G)
c.782+4564T>G (n.782+4564T>G)
c.*281T>G (n.*281T>G)
c.*193T>G (n.*193T>G)
c.127T>G
c.1057T>G (p.Ser353Ala)
c.1141T>G (p.Ser381Ala)
c.697T>G (p.Ser233Ala)
c.983+992T>G (n.983+992T>G)
17g.7669617A>GCA397829995TP53c.1174T>C (p.Ser392Pro)
c.778T>C (p.Ser260Pro)
c.895T>C (p.Ser299Pro)
c.1153T>C (p.Ser385Pro)
c.994-3373T>C (n.994-3373T>C)
c.782+4564T>C (n.782+4564T>C)
c.*281T>C (n.*281T>C)
c.*193T>C (n.*193T>C)
c.127T>C
c.1057T>C (p.Ser353Pro)
c.1141T>C (p.Ser381Pro)
c.697T>C (p.Ser233Pro)
c.983+992T>C (n.983+992T>C)
ClinVar dbSNP
17g.7669617A>TCA397830000TP53c.1174T>A (p.Ser392Thr)
c.778T>A (p.Ser260Thr)
c.895T>A (p.Ser299Thr)
c.1153T>A (p.Ser385Thr)
c.994-3373T>A (n.994-3373T>A)
c.782+4564T>A (n.782+4564T>A)
c.*281T>A (n.*281T>A)
c.*193T>A (n.*193T>A)
c.127T>A
c.1057T>A (p.Ser353Thr)
c.1141T>A (p.Ser381Thr)
c.697T>A (p.Ser233Thr)
c.983+992T>A (n.983+992T>A)
dbSNP
17g.7669619_7669622delCA2695224213TP53c.1171_1174del (p.Asp391GlnfsTer30)
c.775_778del (p.Asp259GlnfsTer30)
c.892_895del (p.Asp298GlnfsTer30)
c.1150_1153del (p.Asp384GlnfsTer30)
c.994-3376_994-3373del (n.994-3376_994-3373del)
c.782+4561_782+4564del (n.782+4561_782+4564del)
c.*278_*281del (n.*278_*281del)
c.*190_*193del (n.*190_*193del)
c.124_127del
c.1054_1057del (p.Asp352GlnfsTer30)
c.1138_1141del (p.Asp380GlnfsTer?)
c.694_697del (p.Asp232GlnfsTer30)
c.983+989_983+992del (n.983+989_983+992del)
17g.7669618G>ACA497711153TP53c.1173C>T (p.Asp391=)
c.777C>T (p.Asp259=)
c.894C>T (p.Asp298=)
c.1152C>T (p.Asp384=)
c.994-3374C>T (n.994-3374C>T)
c.782+4563C>T (n.782+4563C>T)
c.*280C>T (n.*280C>T)
c.*192C>T (n.*192C>T)
c.126C>T
c.1056C>T (p.Asp352=)
c.1140C>T (p.Asp380=)
c.696C>T (p.Asp232=)
c.983+991C>T (n.983+991C>T)
ClinVar dbSNP
17g.7669618G>CCA397830032TP53c.1173C>G (p.Asp391Glu)
c.777C>G (p.Asp259Glu)
c.894C>G (p.Asp298Glu)
c.1152C>G (p.Asp384Glu)
c.994-3374C>G (n.994-3374C>G)
c.782+4563C>G (n.782+4563C>G)
c.*280C>G (n.*280C>G)
c.*192C>G (n.*192C>G)
c.126C>G
c.1056C>G (p.Asp352Glu)
c.1140C>G (p.Asp380Glu)
c.696C>G (p.Asp232Glu)
c.983+991C>G (n.983+991C>G)
ClinVar dbSNP
17g.7669618G=CA2245940490TP53c.1173C= (p.Asp391=)
c.777C= (p.Asp259=)
c.894C= (p.Asp298=)
c.1152C= (p.Asp384=)
c.994-3374C= (n.994-3374C=)
c.782+4563C= (n.782+4563C=)
c.*280C= (n.*280C=)
c.*192C= (n.*192C=)
c.126C=
c.1056C= (p.Asp352=)
c.1140C= (p.Asp380=)
c.696C= (p.Asp232=)
c.983+991C= (n.983+991C=)
17g.7669618G>TCA397830036TP53c.1173C>A (p.Asp391Glu)
c.777C>A (p.Asp259Glu)
c.894C>A (p.Asp298Glu)
c.1152C>A (p.Asp384Glu)
c.994-3374C>A (n.994-3374C>A)
c.782+4563C>A (n.782+4563C>A)
c.*280C>A (n.*280C>A)
c.*192C>A (n.*192C>A)
c.126C>A
c.1056C>A (p.Asp352Glu)
c.1140C>A (p.Asp380Glu)
c.696C>A (p.Asp232Glu)
c.983+991C>A (n.983+991C>A)
dbSNP
17g.7669619T>ACA397830069TP53c.1172A>T (p.Asp391Val)
c.776A>T (p.Asp259Val)
c.893A>T (p.Asp298Val)
c.1151A>T (p.Asp384Val)
c.994-3375A>T (n.994-3375A>T)
c.782+4562A>T (n.782+4562A>T)
c.*279A>T (n.*279A>T)
c.*191A>T (n.*191A>T)
c.125A>T
c.1055A>T (p.Asp352Val)
c.1139A>T (p.Asp380Val)
c.695A>T (p.Asp232Val)
c.983+990A>T (n.983+990A>T)
dbSNP
17g.7669619T>CCA397830063TP53c.1172A>G (p.Asp391Gly)
c.776A>G (p.Asp259Gly)
c.893A>G (p.Asp298Gly)
c.1151A>G (p.Asp384Gly)
c.994-3375A>G (n.994-3375A>G)
c.782+4562A>G (n.782+4562A>G)
c.*279A>G (n.*279A>G)
c.*191A>G (n.*191A>G)
c.125A>G
c.1055A>G (p.Asp352Gly)
c.1139A>G (p.Asp380Gly)
c.695A>G (p.Asp232Gly)
c.983+990A>G (n.983+990A>G)
17g.7669619T>GCA397830064TP53c.1172A>C (p.Asp391Ala)
c.776A>C (p.Asp259Ala)
c.893A>C (p.Asp298Ala)
c.1151A>C (p.Asp384Ala)
c.994-3375A>C (n.994-3375A>C)
c.782+4562A>C (n.782+4562A>C)
c.*279A>C (n.*279A>C)
c.*191A>C (n.*191A>C)
c.125A>C
c.1055A>C (p.Asp352Ala)
c.1139A>C (p.Asp380Ala)
c.695A>C (p.Asp232Ala)
c.983+990A>C (n.983+990A>C)
dbSNP
17g.7669620delCA2573154465TP53c.1171del (p.Asp391ThrfsTer?)
c.775del (p.Asp259ThrfsTer?)
c.892del (p.Asp298ThrfsTer?)
c.1150del (p.Asp384ThrfsTer?)
c.994-3376del (n.994-3376del)
c.782+4561del (n.782+4561del)
c.*278del (n.*278del)
c.*190del (n.*190del)
c.124del
c.1054del (p.Asp352ThrfsTer?)
c.1138del (p.Asp380ThrfsTer?)
c.694del (p.Asp232ThrfsTer?)
c.983+989del (n.983+989del)
ClinVar dbSNP
17g.7669620C>ACA397830071TP53c.1171G>T (p.Asp391Tyr)
c.775G>T (p.Asp259Tyr)
c.892G>T (p.Asp298Tyr)
c.1150G>T (p.Asp384Tyr)
c.994-3376G>T (n.994-3376G>T)
c.782+4561G>T (n.782+4561G>T)
c.*278G>T (n.*278G>T)
c.*190G>T (n.*190G>T)
c.124G>T
c.1054G>T (p.Asp352Tyr)
c.1138G>T (p.Asp380Tyr)
c.694G>T (p.Asp232Tyr)
c.983+989G>T (n.983+989G>T)
COSMIC COSMIC
17g.7669620C>GCA397830077TP53c.1171G>C (p.Asp391His)
c.775G>C (p.Asp259His)
c.892G>C (p.Asp298His)
c.1150G>C (p.Asp384His)
c.994-3376G>C (n.994-3376G>C)
c.782+4561G>C (n.782+4561G>C)
c.*278G>C (n.*278G>C)
c.*190G>C (n.*190G>C)
c.124G>C
c.1054G>C (p.Asp352His)
c.1138G>C (p.Asp380His)
c.694G>C (p.Asp232His)
c.983+989G>C (n.983+989G>C)
dbSNP
17g.7669620C>TCA397830082TP53c.1171G>A (p.Asp391Asn)
c.775G>A (p.Asp259Asn)
c.892G>A (p.Asp298Asn)
c.1150G>A (p.Asp384Asn)
c.994-3376G>A (n.994-3376G>A)
c.782+4561G>A (n.782+4561G>A)
c.*278G>A (n.*278G>A)
c.*190G>A (n.*190G>A)
c.124G>A
c.1054G>A (p.Asp352Asn)
c.1138G>A (p.Asp380Asn)
c.694G>A (p.Asp232Asn)
c.983+989G>A (n.983+989G>A)
dbSNP COSMIC COSMIC
17g.7669621A>CCA497711180TP53c.1170T>G (p.Pro390=)
c.774T>G (p.Pro258=)
c.891T>G (p.Pro297=)
c.1149T>G (p.Pro383=)
c.994-3377T>G (n.994-3377T>G)
c.782+4560T>G (n.782+4560T>G)
c.*277T>G (n.*277T>G)
c.*189T>G (n.*189T>G)
c.123T>G
c.1053T>G (p.Pro351=)
c.1137T>G (p.Pro379=)
c.693T>G (p.Pro231=)
c.983+988T>G (n.983+988T>G)
ClinVar
17g.7669621A>GCA497711186TP53c.1170T>C (p.Pro390=)
c.774T>C (p.Pro258=)
c.891T>C (p.Pro297=)
c.1149T>C (p.Pro383=)
c.994-3377T>C (n.994-3377T>C)
c.782+4560T>C (n.782+4560T>C)
c.*277T>C (n.*277T>C)
c.*189T>C (n.*189T>C)
c.123T>C
c.1053T>C (p.Pro351=)
c.1137T>C (p.Pro379=)
c.693T>C (p.Pro231=)
c.983+988T>C (n.983+988T>C)
dbSNP
17g.7669621A>TCA497711181TP53c.1170T>A (p.Pro390=)
c.774T>A (p.Pro258=)
c.891T>A (p.Pro297=)
c.1149T>A (p.Pro383=)
c.994-3377T>A (n.994-3377T>A)
c.782+4560T>A (n.782+4560T>A)
c.*277T>A (n.*277T>A)
c.*189T>A (n.*189T>A)
c.123T>A
c.1053T>A (p.Pro351=)
c.1137T>A (p.Pro379=)
c.693T>A (p.Pro231=)
c.983+988T>A (n.983+988T>A)
dbSNP gnomAD v4
17g.7669622G>ACA397830087TP53c.1169C>T (p.Pro390Leu)
c.773C>T (p.Pro258Leu)
c.890C>T (p.Pro297Leu)
c.1148C>T (p.Pro383Leu)
c.994-3378C>T (n.994-3378C>T)
c.782+4559C>T (n.782+4559C>T)
c.*276C>T (n.*276C>T)
c.*188C>T (n.*188C>T)
c.122C>T
c.1052C>T (p.Pro351Leu)
c.1136C>T (p.Pro379Leu)
c.692C>T (p.Pro231Leu)
c.983+987C>T (n.983+987C>T)
dbSNP gnomAD v4
17g.7669622G>CCA397830092TP53c.1169C>G (p.Pro390Arg)
c.773C>G (p.Pro258Arg)
c.890C>G (p.Pro297Arg)
c.1148C>G (p.Pro383Arg)
c.994-3378C>G (n.994-3378C>G)
c.782+4559C>G (n.782+4559C>G)
c.*276C>G (n.*276C>G)
c.*188C>G (n.*188C>G)
c.122C>G
c.1052C>G (p.Pro351Arg)
c.1136C>G (p.Pro379Arg)
c.692C>G (p.Pro231Arg)
c.983+987C>G (n.983+987C>G)
dbSNP
17g.7669622G>TCA397830093TP53c.1169C>A (p.Pro390His)
c.773C>A (p.Pro258His)
c.890C>A (p.Pro297His)
c.1148C>A (p.Pro383His)
c.994-3378C>A (n.994-3378C>A)
c.782+4559C>A (n.782+4559C>A)
c.*276C>A (n.*276C>A)
c.*188C>A (n.*188C>A)
c.122C>A
c.1052C>A (p.Pro351His)
c.1136C>A (p.Pro379His)
c.692C>A (p.Pro231His)
c.983+987C>A (n.983+987C>A)
17g.7669623G>ACA397830095TP53c.1168C>T (p.Pro390Ser)
c.772C>T (p.Pro258Ser)
c.889C>T (p.Pro297Ser)
c.1147C>T (p.Pro383Ser)
c.994-3379C>T (n.994-3379C>T)
c.782+4558C>T (n.782+4558C>T)
c.*275C>T (n.*275C>T)
c.*187C>T (n.*187C>T)
c.121C>T
c.1051C>T (p.Pro351Ser)
c.1135C>T (p.Pro379Ser)
c.691C>T (p.Pro231Ser)
c.983+986C>T (n.983+986C>T)
17g.7669623G>CCA397830099TP53c.1168C>G (p.Pro390Ala)
c.772C>G (p.Pro258Ala)
c.889C>G (p.Pro297Ala)
c.1147C>G (p.Pro383Ala)
c.994-3379C>G (n.994-3379C>G)
c.782+4558C>G (n.782+4558C>G)
c.*275C>G (n.*275C>G)
c.*187C>G (n.*187C>G)
c.121C>G
c.1051C>G (p.Pro351Ala)
c.1135C>G (p.Pro379Ala)
c.691C>G (p.Pro231Ala)
c.983+986C>G (n.983+986C>G)
dbSNP
17g.7669623G=CA2245940505TP53c.1168C= (p.Pro390=)
c.772C= (p.Pro258=)
c.889C= (p.Pro297=)
c.1147C= (p.Pro383=)
c.994-3379C= (n.994-3379C=)
c.782+4558C= (n.782+4558C=)
c.*275C= (n.*275C=)
c.*187C= (n.*187C=)
c.121C=
c.1051C= (p.Pro351=)
c.1135C= (p.Pro379=)
c.691C= (p.Pro231=)
c.983+986C= (n.983+986C=)
17g.7669623G>TCA397830121TP53c.1168C>A (p.Pro390Thr)
c.772C>A (p.Pro258Thr)
c.889C>A (p.Pro297Thr)
c.1147C>A (p.Pro383Thr)
c.994-3379C>A (n.994-3379C>A)
c.782+4558C>A (n.782+4558C>A)
c.*275C>A (n.*275C>A)
c.*187C>A (n.*187C>A)
c.121C>A
c.1051C>A (p.Pro351Thr)
c.1135C>A (p.Pro379Thr)
c.691C>A (p.Pro231Thr)
c.983+986C>A (n.983+986C>A)
ClinVar dbSNP
17g.7669623_7669624delinsGCCA2245940509TP53c.1167_1168delinsGC (p.Gly389=)
c.771_772delinsGC (p.Gly257=)
c.888_889delinsGC (p.Gly296=)
c.1146_1147delinsGC (p.Gly382=)
c.994-3380_994-3379delinsGC (n.994-3380_994-3379delinsGC)
c.782+4557_782+4558delinsGC (n.782+4557_782+4558delinsGC)
c.*274_*275delinsGC (n.*274_*275delinsGC)
c.*186_*187delinsGC (n.*186_*187delinsGC)
c.120_121delinsGC
c.1050_1051delinsGC (p.Gly350=)
c.1134_1135delinsGC (p.Gly378=)
c.690_691delinsGC (p.Gly230=)
c.983+985_983+986delinsGC (n.983+985_983+986delinsGC)
17g.7669624C>ACA497711205TP53c.1167G>T (p.Gly389=)
c.771G>T (p.Gly257=)
c.888G>T (p.Gly296=)
c.1146G>T (p.Gly382=)
c.994-3380G>T (n.994-3380G>T)
c.782+4557G>T (n.782+4557G>T)
c.*274G>T (n.*274G>T)
c.*186G>T (n.*186G>T)
c.120G>T
c.1050G>T (p.Gly350=)
c.1134G>T (p.Gly378=)
c.690G>T (p.Gly230=)
c.983+985G>T (n.983+985G>T)
ClinVar dbSNP
17g.7669624C=CA2245940519TP53c.1167G= (p.Gly389=)
c.771G= (p.Gly257=)
c.888G= (p.Gly296=)
c.1146G= (p.Gly382=)
c.994-3380G= (n.994-3380G=)
c.782+4557G= (n.782+4557G=)
c.*274G= (n.*274G=)
c.*186G= (n.*186G=)
c.120G=
c.1050G= (p.Gly350=)
c.1134G= (p.Gly378=)
c.690G= (p.Gly230=)
c.983+985G= (n.983+985G=)
17g.7669624C>GCA497711207TP53c.1167G>C (p.Gly389=)
c.771G>C (p.Gly257=)
c.888G>C (p.Gly296=)
c.1146G>C (p.Gly382=)
c.994-3380G>C (n.994-3380G>C)
c.782+4557G>C (n.782+4557G>C)
c.*274G>C (n.*274G>C)
c.*186G>C (n.*186G>C)
c.120G>C
c.1050G>C (p.Gly350=)
c.1134G>C (p.Gly378=)
c.690G>C (p.Gly230=)
c.983+985G>C (n.983+985G>C)
dbSNP
17g.7669624C>TCA497711209TP53c.1167G>A (p.Gly389=)
c.771G>A (p.Gly257=)
c.888G>A (p.Gly296=)
c.1146G>A (p.Gly382=)
c.994-3380G>A (n.994-3380G>A)
c.782+4557G>A (n.782+4557G>A)
c.*274G>A (n.*274G>A)
c.*186G>A (n.*186G>A)
c.120G>A
c.1050G>A (p.Gly350=)
c.1134G>A (p.Gly378=)
c.690G>A (p.Gly230=)
c.983+985G>A (n.983+985G>A)
dbSNP
17g.7669626delCA000670TP53c.1167del (p.Pro390LeufsTer?)
c.771del (p.Pro258LeufsTer?)
c.888del (p.Pro297LeufsTer?)
c.1146del (p.Pro383LeufsTer?)
c.994-3380del (n.994-3380del)
c.782+4557del (n.782+4557del)
c.*274del (n.*274del)
c.*186del (n.*186del)
c.120del
c.1050del (p.Pro351LeufsTer?)
c.1134del (p.Pro379LeufsTer?)
c.690del (p.Pro231LeufsTer?)
c.983+985del (n.983+985del)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.7669625C>ACA397830124TP53c.1166G>T (p.Gly389Val)
c.770G>T (p.Gly257Val)
c.887G>T (p.Gly296Val)
c.1145G>T (p.Gly382Val)
c.994-3381G>T (n.994-3381G>T)
c.782+4556G>T (n.782+4556G>T)
c.*273G>T (n.*273G>T)
c.*185G>T (n.*185G>T)
c.119G>T
c.1049G>T (p.Gly350Val)
c.1133G>T (p.Gly378Val)
c.689G>T (p.Gly230Val)
c.983+984G>T (n.983+984G>T)
dbSNP COSMIC COSMIC
17g.7669625C>GCA397830130TP53c.1166G>C (p.Gly389Ala)
c.770G>C (p.Gly257Ala)
c.887G>C (p.Gly296Ala)
c.1145G>C (p.Gly382Ala)
c.994-3381G>C (n.994-3381G>C)
c.782+4556G>C (n.782+4556G>C)
c.*273G>C (n.*273G>C)
c.*185G>C (n.*185G>C)
c.119G>C
c.1049G>C (p.Gly350Ala)
c.1133G>C (p.Gly378Ala)
c.689G>C (p.Gly230Ala)
c.983+984G>C (n.983+984G>C)
dbSNP
17g.7669625C>TCA397830146TP53c.1166G>A (p.Gly389Glu)
c.770G>A (p.Gly257Glu)
c.887G>A (p.Gly296Glu)
c.1145G>A (p.Gly382Glu)
c.994-3381G>A (n.994-3381G>A)
c.782+4556G>A (n.782+4556G>A)
c.*273G>A (n.*273G>A)
c.*185G>A (n.*185G>A)
c.119G>A
c.1049G>A (p.Gly350Glu)
c.1133G>A (p.Gly378Glu)
c.689G>A (p.Gly230Glu)
c.983+984G>A (n.983+984G>A)
dbSNP
17g.7669626C>ACA000048TP53c.1165G>T (p.Gly389Trp)
c.769G>T (p.Gly257Trp)
c.886G>T (p.Gly296Trp)
c.1144G>T (p.Gly382Trp)
c.994-3382G>T (n.994-3382G>T)
c.782+4555G>T (n.782+4555G>T)
c.*272G>T (n.*272G>T)
c.*184G>T (n.*184G>T)
c.118G>T
c.1048G>T (p.Gly350Trp)
c.1132G>T (p.Gly378Trp)
c.688G>T (p.Gly230Trp)
c.983+983G>T (n.983+983G>T)
ClinVar dbSNP
17g.7669626C=CA2245940529TP53c.1165G= (p.Gly389=)
c.769G= (p.Gly257=)
c.886G= (p.Gly296=)
c.1144G= (p.Gly382=)
c.994-3382G= (n.994-3382G=)
c.782+4555G= (n.782+4555G=)
c.*272G= (n.*272G=)
c.*184G= (n.*184G=)
c.118G=
c.1048G= (p.Gly350=)
c.1132G= (p.Gly378=)
c.688G= (p.Gly230=)
c.983+983G= (n.983+983G=)
17g.7669626C>GCA397830168TP53c.1165G>C (p.Gly389Arg)
c.769G>C (p.Gly257Arg)
c.886G>C (p.Gly296Arg)
c.1144G>C (p.Gly382Arg)
c.994-3382G>C (n.994-3382G>C)
c.782+4555G>C (n.782+4555G>C)
c.*272G>C (n.*272G>C)
c.*184G>C (n.*184G>C)
c.118G>C
c.1048G>C (p.Gly350Arg)
c.1132G>C (p.Gly378Arg)
c.688G>C (p.Gly230Arg)
c.983+983G>C (n.983+983G>C)
dbSNP
17g.7669626C>TCA397830162TP53c.1165G>A (p.Gly389Arg)
c.769G>A (p.Gly257Arg)
c.886G>A (p.Gly296Arg)
c.1144G>A (p.Gly382Arg)
c.994-3382G>A (n.994-3382G>A)
c.782+4555G>A (n.782+4555G>A)
c.*272G>A (n.*272G>A)
c.*184G>A (n.*184G>A)
c.118G>A
c.1048G>A (p.Gly350Arg)
c.1132G>A (p.Gly378Arg)
c.688G>A (p.Gly230Arg)
c.983+983G>A (n.983+983G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.7669627T>ACA397830173TP53c.1164A>T (p.Glu388Asp)
c.768A>T (p.Glu256Asp)
c.885A>T (p.Glu295Asp)
c.1143A>T (p.Glu381Asp)
c.994-3383A>T (n.994-3383A>T)
c.782+4554A>T (n.782+4554A>T)
c.*271A>T (n.*271A>T)
c.*183A>T (n.*183A>T)
c.117A>T
c.1047A>T (p.Glu349Asp)
c.1131A>T (p.Glu377Asp)
c.687A>T (p.Glu229Asp)
c.983+982A>T (n.983+982A>T)
ClinVar dbSNP
17g.7669627T>CCA497711233TP53c.1164A>G (p.Glu388=)
c.768A>G (p.Glu256=)
c.885A>G (p.Glu295=)
c.1143A>G (p.Glu381=)
c.994-3383A>G (n.994-3383A>G)
c.782+4554A>G (n.782+4554A>G)
c.*271A>G (n.*271A>G)
c.*183A>G (n.*183A>G)
c.117A>G
c.1047A>G (p.Glu349=)
c.1131A>G (p.Glu377=)
c.687A>G (p.Glu229=)
c.983+982A>G (n.983+982A>G)
dbSNP
17g.7669627T>GCA397830190TP53c.1164A>C (p.Glu388Asp)
c.768A>C (p.Glu256Asp)
c.885A>C (p.Glu295Asp)
c.1143A>C (p.Glu381Asp)
c.994-3383A>C (n.994-3383A>C)
c.782+4554A>C (n.782+4554A>C)
c.*271A>C (n.*271A>C)
c.*183A>C (n.*183A>C)
c.117A>C
c.1047A>C (p.Glu349Asp)
c.1131A>C (p.Glu377Asp)
c.687A>C (p.Glu229Asp)
c.983+982A>C (n.983+982A>C)
dbSNP gnomAD v4
17g.7669627T=CA2245940544TP53c.1164A= (p.Glu388=)
c.768A= (p.Glu256=)
c.885A= (p.Glu295=)
c.1143A= (p.Glu381=)
c.994-3383A= (n.994-3383A=)
c.782+4554A= (n.782+4554A=)
c.*271A= (n.*271A=)
c.*183A= (n.*183A=)
c.117A=
c.1047A= (p.Glu349=)
c.1131A= (p.Glu377=)
c.687A= (p.Glu229=)
c.983+982A= (n.983+982A=)
17g.7669628T>ACA397830199TP53c.1163A>T (p.Glu388Val)
c.767A>T (p.Glu256Val)
c.884A>T (p.Glu295Val)
c.1142A>T (p.Glu381Val)
c.994-3384A>T (n.994-3384A>T)
c.782+4553A>T (n.782+4553A>T)
c.*270A>T (n.*270A>T)
c.*182A>T (n.*182A>T)
c.116A>T
c.1046A>T (p.Glu349Val)
c.1130A>T (p.Glu377Val)
c.686A>T (p.Glu229Val)
c.983+981A>T (n.983+981A>T)
dbSNP
17g.7669628T>CCA397830210TP53c.1163A>G (p.Glu388Gly)
c.767A>G (p.Glu256Gly)
c.884A>G (p.Glu295Gly)
c.1142A>G (p.Glu381Gly)
c.994-3384A>G (n.994-3384A>G)
c.782+4553A>G (n.782+4553A>G)
c.*270A>G (n.*270A>G)
c.*182A>G (n.*182A>G)
c.116A>G
c.1046A>G (p.Glu349Gly)
c.1130A>G (p.Glu377Gly)
c.686A>G (p.Glu229Gly)
c.983+981A>G (n.983+981A>G)
dbSNP
17g.7669628T>GCA000047TP53c.1163A>C (p.Glu388Ala)
c.767A>C (p.Glu256Ala)
c.884A>C (p.Glu295Ala)
c.1142A>C (p.Glu381Ala)
c.994-3384A>C (n.994-3384A>C)
c.782+4553A>C (n.782+4553A>C)
c.*270A>C (n.*270A>C)
c.*182A>C (n.*182A>C)
c.116A>C
c.1046A>C (p.Glu349Ala)
c.1130A>C (p.Glu377Ala)
c.686A>C (p.Glu229Ala)
c.983+981A>C (n.983+981A>C)
ClinVar dbSNP gnomAD v4
17g.7669628T=CA2245940551TP53c.1163A= (p.Glu388=)
c.767A= (p.Glu256=)
c.884A= (p.Glu295=)
c.1142A= (p.Glu381=)
c.994-3384A= (n.994-3384A=)
c.782+4553A= (n.782+4553A=)
c.*270A= (n.*270A=)
c.*182A= (n.*182A=)
c.116A=
c.1046A= (p.Glu349=)
c.1130A= (p.Glu377=)
c.686A= (p.Glu229=)
c.983+981A= (n.983+981A=)
17g.7669629C>ACA397830218TP53c.1162G>T (p.Glu388Ter)
c.766G>T (p.Glu256Ter)
c.883G>T (p.Glu295Ter)
c.1141G>T (p.Glu381Ter)
c.994-3385G>T (n.994-3385G>T)
c.782+4552G>T (n.782+4552G>T)
c.*269G>T (n.*269G>T)
c.*181G>T (n.*181G>T)
c.115G>T
c.1045G>T (p.Glu349Ter)
c.1129G>T (p.Glu377Ter)
c.685G>T (p.Glu229Ter)
c.983+980G>T (n.983+980G>T)
17g.7669629C>GCA397830223TP53c.1162G>C (p.Glu388Gln)
c.766G>C (p.Glu256Gln)
c.883G>C (p.Glu295Gln)
c.1141G>C (p.Glu381Gln)
c.994-3385G>C (n.994-3385G>C)
c.782+4552G>C (n.782+4552G>C)
c.*269G>C (n.*269G>C)
c.*181G>C (n.*181G>C)
c.115G>C
c.1045G>C (p.Glu349Gln)
c.1129G>C (p.Glu377Gln)
c.685G>C (p.Glu229Gln)
c.983+980G>C (n.983+980G>C)
ClinVar dbSNP
17g.7669629C>TCA397830224TP53c.1162G>A (p.Glu388Lys)
c.766G>A (p.Glu256Lys)
c.883G>A (p.Glu295Lys)
c.1141G>A (p.Glu381Lys)
c.994-3385G>A (n.994-3385G>A)
c.782+4552G>A (n.782+4552G>A)
c.*269G>A (n.*269G>A)
c.*181G>A (n.*181G>A)
c.115G>A
c.1045G>A (p.Glu349Lys)
c.1129G>A (p.Glu377Lys)
c.685G>A (p.Glu229Lys)
c.983+980G>A (n.983+980G>A)
dbSNP
17g.7669630T>ACA497711254TP53c.1161A>T (p.Thr387=)
c.765A>T (p.Thr255=)
c.882A>T (p.Thr294=)
c.1140A>T (p.Thr380=)
c.994-3386A>T (n.994-3386A>T)
c.782+4551A>T (n.782+4551A>T)
c.*268A>T (n.*268A>T)
c.*180A>T (n.*180A>T)
c.114A>T
c.1044A>T (p.Thr348=)
c.1128A>T (p.Thr376=)
c.684A>T (p.Thr228=)
c.983+979A>T (n.983+979A>T)
dbSNP
17g.7669630T>CCA497711256TP53c.1161A>G (p.Thr387=)
c.765A>G (p.Thr255=)
c.882A>G (p.Thr294=)
c.1140A>G (p.Thr380=)
c.994-3386A>G (n.994-3386A>G)
c.782+4551A>G (n.782+4551A>G)
c.*268A>G (n.*268A>G)
c.*180A>G (n.*180A>G)
c.114A>G
c.1044A>G (p.Thr348=)
c.1128A>G (p.Thr376=)
c.684A>G (p.Thr228=)
c.983+979A>G (n.983+979A>G)
ClinVar dbSNP
17g.7669630T>GCA497711251TP53c.1161A>C (p.Thr387=)
c.765A>C (p.Thr255=)
c.882A>C (p.Thr294=)
c.1140A>C (p.Thr380=)
c.994-3386A>C (n.994-3386A>C)
c.782+4551A>C (n.782+4551A>C)
c.*268A>C (n.*268A>C)
c.*180A>C (n.*180A>C)
c.114A>C
c.1044A>C (p.Thr348=)
c.1128A>C (p.Thr376=)
c.684A>C (p.Thr228=)
c.983+979A>C (n.983+979A>C)
17g.7669630T=CA2245940558TP53c.1161A= (p.Thr387=)
c.765A= (p.Thr255=)
c.882A= (p.Thr294=)
c.1140A= (p.Thr380=)
c.994-3386A= (n.994-3386A=)
c.782+4551A= (n.782+4551A=)
c.*268A= (n.*268A=)
c.*180A= (n.*180A=)
c.114A=
c.1044A= (p.Thr348=)
c.1128A= (p.Thr376=)
c.684A= (p.Thr228=)
c.983+979A= (n.983+979A=)
17g.7669630_7669631delinsTGCA2245940561TP53c.1160_1161delinsCA (p.Thr387=)
c.764_765delinsCA (p.Thr255=)
c.881_882delinsCA (p.Thr294=)
c.1139_1140delinsCA (p.Thr380=)
c.994-3387_994-3386delinsCA (n.994-3387_994-3386delinsCA)
c.782+4550_782+4551delinsCA (n.782+4550_782+4551delinsCA)
c.*267_*268delinsCA (n.*267_*268delinsCA)
c.*179_*180delinsCA (n.*179_*180delinsCA)
c.113_114delinsCA
c.1043_1044delinsCA (p.Thr348=)
c.1127_1128delinsCA (p.Thr376=)
c.683_684delinsCA (p.Thr228=)
c.983+978_983+979delinsCA (n.983+978_983+979delinsCA)
17g.7669631delCA915949508TP53c.1160del (p.Thr387LysfsTer?)
c.764del (p.Thr255LysfsTer?)
c.881del (p.Thr294LysfsTer?)
c.1139del (p.Thr380LysfsTer?)
c.994-3387del (n.994-3387del)
c.782+4550del (n.782+4550del)
c.*267del (n.*267del)
c.*179del (n.*179del)
c.113del
c.1043del (p.Thr348LysfsTer?)
c.1127del (p.Thr376LysfsTer?)
c.683del (p.Thr228LysfsTer?)
c.983+978del (n.983+978del)
ClinVar dbSNP
17g.7669631G>ACA397830225TP53c.1160C>T (p.Thr387Ile)
c.764C>T (p.Thr255Ile)
c.881C>T (p.Thr294Ile)
c.1139C>T (p.Thr380Ile)
c.994-3387C>T (n.994-3387C>T)
c.782+4550C>T (n.782+4550C>T)
c.*267C>T (n.*267C>T)
c.*179C>T (n.*179C>T)
c.113C>T
c.1043C>T (p.Thr348Ile)
c.1127C>T (p.Thr376Ile)
c.683C>T (p.Thr228Ile)
c.983+978C>T (n.983+978C>T)
dbSNP
17g.7669631G>CCA287485465TP53c.1160C>G (p.Thr387Arg)
c.764C>G (p.Thr255Arg)
c.881C>G (p.Thr294Arg)
c.1139C>G (p.Thr380Arg)
c.994-3387C>G (n.994-3387C>G)
c.782+4550C>G (n.782+4550C>G)
c.*267C>G (n.*267C>G)
c.*179C>G (n.*179C>G)
c.113C>G
c.1043C>G (p.Thr348Arg)
c.1127C>G (p.Thr376Arg)
c.683C>G (p.Thr228Arg)
c.983+978C>G (n.983+978C>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.7669631G=CA2245940572TP53c.1160C= (p.Thr387=)
c.764C= (p.Thr255=)
c.881C= (p.Thr294=)
c.1139C= (p.Thr380=)
c.994-3387C= (n.994-3387C=)
c.782+4550C= (n.782+4550C=)
c.*267C= (n.*267C=)
c.*179C= (n.*179C=)
c.113C=
c.1043C= (p.Thr348=)
c.1127C= (p.Thr376=)
c.683C= (p.Thr228=)
c.983+978C= (n.983+978C=)
17g.7669631G>TCA397830226TP53c.1160C>A (p.Thr387Lys)
c.764C>A (p.Thr255Lys)
c.881C>A (p.Thr294Lys)
c.1139C>A (p.Thr380Lys)
c.994-3387C>A (n.994-3387C>A)
c.782+4550C>A (n.782+4550C>A)
c.*267C>A (n.*267C>A)
c.*179C>A (n.*179C>A)
c.113C>A
c.1043C>A (p.Thr348Lys)
c.1127C>A (p.Thr376Lys)
c.683C>A (p.Thr228Lys)
c.983+978C>A (n.983+978C>A)
17g.7669632T>ACA397830228TP53c.1159A>T (p.Thr387Ser)
c.763A>T (p.Thr255Ser)
c.880A>T (p.Thr294Ser)
c.1138A>T (p.Thr380Ser)
c.994-3388A>T (n.994-3388A>T)
c.782+4549A>T (n.782+4549A>T)
c.*266A>T (n.*266A>T)
c.*178A>T (n.*178A>T)
c.112A>T
c.1042A>T (p.Thr348Ser)
c.1126A>T (p.Thr376Ser)
c.682A>T (p.Thr228Ser)
c.983+977A>T (n.983+977A>T)
dbSNP
17g.7669632T>CCA397830233TP53c.1159A>G (p.Thr387Ala)
c.763A>G (p.Thr255Ala)
c.880A>G (p.Thr294Ala)
c.1138A>G (p.Thr380Ala)
c.994-3388A>G (n.994-3388A>G)
c.782+4549A>G (n.782+4549A>G)
c.*266A>G (n.*266A>G)
c.*178A>G (n.*178A>G)
c.112A>G
c.1042A>G (p.Thr348Ala)
c.1126A>G (p.Thr376Ala)
c.682A>G (p.Thr228Ala)
c.983+977A>G (n.983+977A>G)
17g.7669632T>GCA397830234TP53c.1159A>C (p.Thr387Pro)
c.763A>C (p.Thr255Pro)
c.880A>C (p.Thr294Pro)
c.1138A>C (p.Thr380Pro)
c.994-3388A>C (n.994-3388A>C)
c.782+4549A>C (n.782+4549A>C)
c.*266A>C (n.*266A>C)
c.*178A>C (n.*178A>C)
c.112A>C
c.1042A>C (p.Thr348Pro)
c.1126A>C (p.Thr376Pro)
c.682A>C (p.Thr228Pro)
c.983+977A>C (n.983+977A>C)
ClinVar dbSNP
17g.7669633C>ACA397830235TP53c.1158G>T (p.Lys386Asn)
c.762G>T (p.Lys254Asn)
c.879G>T (p.Lys293Asn)
c.1137G>T (p.Lys379Asn)
c.994-3389G>T (n.994-3389G>T)
c.782+4548G>T (n.782+4548G>T)
c.*265G>T (n.*265G>T)
c.*177G>T (n.*177G>T)
c.111G>T
c.1041G>T (p.Lys347Asn)
c.1125G>T (p.Lys375Asn)
c.681G>T (p.Lys227Asn)
c.983+976G>T (n.983+976G>T)
dbSNP
17g.7669633C>GCA397830236TP53c.1158G>C (p.Lys386Asn)
c.762G>C (p.Lys254Asn)
c.879G>C (p.Lys293Asn)
c.1137G>C (p.Lys379Asn)
c.994-3389G>C (n.994-3389G>C)
c.782+4548G>C (n.782+4548G>C)
c.*265G>C (n.*265G>C)
c.*177G>C (n.*177G>C)
c.111G>C
c.1041G>C (p.Lys347Asn)
c.1125G>C (p.Lys375Asn)
c.681G>C (p.Lys227Asn)
c.983+976G>C (n.983+976G>C)
dbSNP COSMIC COSMIC
17g.7669633C>TCA497711277TP53c.1158G>A (p.Lys386=)
c.762G>A (p.Lys254=)
c.879G>A (p.Lys293=)
c.1137G>A (p.Lys379=)
c.994-3389G>A (n.994-3389G>A)
c.782+4548G>A (n.782+4548G>A)
c.*265G>A (n.*265G>A)
c.*177G>A (n.*177G>A)
c.111G>A
c.1041G>A (p.Lys347=)
c.1125G>A (p.Lys375=)
c.681G>A (p.Lys227=)
c.983+976G>A (n.983+976G>A)
ClinVar dbSNP
17g.7669634T>ACA397830252TP53c.1157A>T (p.Lys386Met)
c.761A>T (p.Lys254Met)
c.878A>T (p.Lys293Met)
c.1136A>T (p.Lys379Met)
c.994-3390A>T (n.994-3390A>T)
c.782+4547A>T (n.782+4547A>T)
c.*264A>T (n.*264A>T)
c.*176A>T (n.*176A>T)
c.110A>T
c.1040A>T (p.Lys347Met)
c.1124A>T (p.Lys375Met)
c.680A>T (p.Lys227Met)
c.983+975A>T (n.983+975A>T)
dbSNP
17g.7669634T>CCA397830255TP53c.1157A>G (p.Lys386Arg)
c.761A>G (p.Lys254Arg)
c.878A>G (p.Lys293Arg)
c.1136A>G (p.Lys379Arg)
c.994-3390A>G (n.994-3390A>G)
c.782+4547A>G (n.782+4547A>G)
c.*264A>G (n.*264A>G)
c.*176A>G (n.*176A>G)
c.110A>G
c.1040A>G (p.Lys347Arg)
c.1124A>G (p.Lys375Arg)
c.680A>G (p.Lys227Arg)
c.983+975A>G (n.983+975A>G)
ClinVar dbSNP
17g.7669634T>GCA397830264TP53c.1157A>C (p.Lys386Thr)
c.761A>C (p.Lys254Thr)
c.878A>C (p.Lys293Thr)
c.1136A>C (p.Lys379Thr)
c.994-3390A>C (n.994-3390A>C)
c.782+4547A>C (n.782+4547A>C)
c.*264A>C (n.*264A>C)
c.*176A>C (n.*176A>C)
c.110A>C
c.1040A>C (p.Lys347Thr)
c.1124A>C (p.Lys375Thr)
c.680A>C (p.Lys227Thr)
c.983+975A>C (n.983+975A>C)
17g.7669634T=CA2245940589TP53c.1157A= (p.Lys386=)
c.761A= (p.Lys254=)
c.878A= (p.Lys293=)
c.1136A= (p.Lys379=)
c.994-3390A= (n.994-3390A=)
c.782+4547A= (n.782+4547A=)
c.*264A= (n.*264A=)
c.*176A= (n.*176A=)
c.110A=
c.1040A= (p.Lys347=)
c.1124A= (p.Lys375=)
c.680A= (p.Lys227=)
c.983+975A= (n.983+975A=)
17g.7669635T>ACA397830269TP53c.1156A>T (p.Lys386Ter)
c.760A>T (p.Lys254Ter)
c.877A>T (p.Lys293Ter)
c.1135A>T (p.Lys379Ter)
c.994-3391A>T (n.994-3391A>T)
c.782+4546A>T (n.782+4546A>T)
c.*263A>T (n.*263A>T)
c.*175A>T (n.*175A>T)
c.109A>T
c.1039A>T (p.Lys347Ter)
c.1123A>T (p.Lys375Ter)
c.679A>T (p.Lys227Ter)
c.983+974A>T (n.983+974A>T)
17g.7669635T>CCA397830271TP53c.1156A>G (p.Lys386Glu)
c.760A>G (p.Lys254Glu)
c.877A>G (p.Lys293Glu)
c.1135A>G (p.Lys379Glu)
c.994-3391A>G (n.994-3391A>G)
c.782+4546A>G (n.782+4546A>G)
c.*263A>G (n.*263A>G)
c.*175A>G (n.*175A>G)
c.109A>G
c.1039A>G (p.Lys347Glu)
c.1123A>G (p.Lys375Glu)
c.679A>G (p.Lys227Glu)
c.983+974A>G (n.983+974A>G)
gnomAD v4
17g.7669635T>GCA397830275TP53c.1156A>C (p.Lys386Gln)
c.760A>C (p.Lys254Gln)
c.877A>C (p.Lys293Gln)
c.1135A>C (p.Lys379Gln)
c.994-3391A>C (n.994-3391A>C)
c.782+4546A>C (n.782+4546A>C)
c.*263A>C (n.*263A>C)
c.*175A>C (n.*175A>C)
c.109A>C
c.1039A>C (p.Lys347Gln)
c.1123A>C (p.Lys375Gln)
c.679A>C (p.Lys227Gln)
c.983+974A>C (n.983+974A>C)
17g.7669636G>ACA497711296TP53c.1155C>T (p.Phe385=)
c.759C>T (p.Phe253=)
c.876C>T (p.Phe292=)
c.1134C>T (p.Phe378=)
c.994-3392C>T (n.994-3392C>T)
c.782+4545C>T (n.782+4545C>T)
c.*262C>T (n.*262C>T)
c.*174C>T (n.*174C>T)
c.108C>T
c.1038C>T (p.Phe346=)
c.1122C>T (p.Phe374=)
c.678C>T (p.Phe226=)
c.983+973C>T (n.983+973C>T)
ClinVar
17g.7669636G>CCA397830291TP53c.1155C>G (p.Phe385Leu)
c.759C>G (p.Phe253Leu)
c.876C>G (p.Phe292Leu)
c.1134C>G (p.Phe378Leu)
c.994-3392C>G (n.994-3392C>G)
c.782+4545C>G (n.782+4545C>G)
c.*262C>G (n.*262C>G)
c.*174C>G (n.*174C>G)
c.108C>G
c.1038C>G (p.Phe346Leu)
c.1122C>G (p.Phe374Leu)
c.678C>G (p.Phe226Leu)
c.983+973C>G (n.983+973C>G)
dbSNP
17g.7669636G>TCA397830295TP53c.1155C>A (p.Phe385Leu)
c.759C>A (p.Phe253Leu)
c.876C>A (p.Phe292Leu)
c.1134C>A (p.Phe378Leu)
c.994-3392C>A (n.994-3392C>A)
c.782+4545C>A (n.782+4545C>A)
c.*262C>A (n.*262C>A)
c.*174C>A (n.*174C>A)
c.108C>A
c.1038C>A (p.Phe346Leu)
c.1122C>A (p.Phe374Leu)
c.678C>A (p.Phe226Leu)
c.983+973C>A (n.983+973C>A)
ClinVar dbSNP gnomAD v4
17g.7669637A>CCA397830300TP53c.1154T>G (p.Phe385Cys)
c.758T>G (p.Phe253Cys)
c.875T>G (p.Phe292Cys)
c.1133T>G (p.Phe378Cys)
c.994-3393T>G (n.994-3393T>G)
c.782+4544T>G (n.782+4544T>G)
c.*261T>G (n.*261T>G)
c.*173T>G (n.*173T>G)
c.107T>G
c.1037T>G (p.Phe346Cys)
c.1121T>G (p.Phe374Cys)
c.677T>G (p.Phe226Cys)
c.983+972T>G (n.983+972T>G)
17g.7669637A>GCA397830305TP53c.1154T>C (p.Phe385Ser)
c.758T>C (p.Phe253Ser)
c.875T>C (p.Phe292Ser)
c.1133T>C (p.Phe378Ser)
c.994-3393T>C (n.994-3393T>C)
c.782+4544T>C (n.782+4544T>C)
c.*261T>C (n.*261T>C)
c.*173T>C (n.*173T>C)
c.107T>C
c.1037T>C (p.Phe346Ser)
c.1121T>C (p.Phe374Ser)
c.677T>C (p.Phe226Ser)
c.983+972T>C (n.983+972T>C)
17g.7669637A>TCA397830307TP53c.1154T>A (p.Phe385Tyr)
c.758T>A (p.Phe253Tyr)
c.875T>A (p.Phe292Tyr)
c.1133T>A (p.Phe378Tyr)
c.994-3393T>A (n.994-3393T>A)
c.782+4544T>A (n.782+4544T>A)
c.*261T>A (n.*261T>A)
c.*173T>A (n.*173T>A)
c.107T>A
c.1037T>A (p.Phe346Tyr)
c.1121T>A (p.Phe374Tyr)
c.677T>A (p.Phe226Tyr)
c.983+972T>A (n.983+972T>A)
dbSNP
17g.7669638delCA645587286TP53c.1154del (p.Phe385SerfsTer?)
c.758del (p.Phe253SerfsTer?)
c.875del (p.Phe292SerfsTer?)
c.1133del (p.Phe378SerfsTer?)
c.994-3393del (n.994-3393del)
c.782+4544del (n.782+4544del)
c.*261del (n.*261del)
c.*173del (n.*173del)
c.107del
c.1037del (p.Phe346SerfsTer?)
c.1121del (p.Phe374SerfsTer?)
c.677del (p.Phe226SerfsTer?)
c.983+972del (n.983+972del)
gnomAD v4 COSMIC
17g.7669637_7669640delinsAACACA2245940591TP53c.1151_1154delinsTGTT (p.Met384=)
c.755_758delinsTGTT (p.Met252=)
c.872_875delinsTGTT (p.Met291=)
c.1130_1133delinsTGTT (p.Met377=)
c.994-3396_994-3393delinsTGTT (n.994-3396_994-3393delinsTGTT)
c.782+4541_782+4544delinsTGTT (n.782+4541_782+4544delinsTGTT)
c.*258_*261delinsTGTT (n.*258_*261delinsTGTT)
c.*170_*173delinsTGTT (n.*170_*173delinsTGTT)
c.104_107delinsTGTT
c.1034_1037delinsTGTT (p.Met345=)
c.1118_1121delinsTGTT (p.Met373=)
c.674_677delinsTGTT (p.Met225=)
c.983+969_983+972delinsTGTT (n.983+969_983+972delinsTGTT)
17g.7669638A=CA2245940601TP53c.1153T= (p.Phe385=)
c.757T= (p.Phe253=)
c.874T= (p.Phe292=)
c.1132T= (p.Phe378=)
c.994-3394T= (n.994-3394T=)
c.782+4543T= (n.782+4543T=)
c.*260T= (n.*260T=)
c.*172T= (n.*172T=)
c.106T=
c.1036T= (p.Phe346=)
c.1120T= (p.Phe374=)
c.676T= (p.Phe226=)
c.983+971T= (n.983+971T=)
17g.7669638A>CCA397830314TP53c.1153T>G (p.Phe385Val)
c.757T>G (p.Phe253Val)
c.874T>G (p.Phe292Val)
c.1132T>G (p.Phe378Val)
c.994-3394T>G (n.994-3394T>G)
c.782+4543T>G (n.782+4543T>G)
c.*260T>G (n.*260T>G)
c.*172T>G (n.*172T>G)
c.106T>G
c.1036T>G (p.Phe346Val)
c.1120T>G (p.Phe374Val)
c.676T>G (p.Phe226Val)
c.983+971T>G (n.983+971T>G)
dbSNP
17g.7669638A>GCA397830329TP53c.1153T>C (p.Phe385Leu)
c.757T>C (p.Phe253Leu)
c.874T>C (p.Phe292Leu)
c.1132T>C (p.Phe378Leu)
c.994-3394T>C (n.994-3394T>C)
c.782+4543T>C (n.782+4543T>C)
c.*260T>C (n.*260T>C)
c.*172T>C (n.*172T>C)
c.106T>C
c.1036T>C (p.Phe346Leu)
c.1120T>C (p.Phe374Leu)
c.676T>C (p.Phe226Leu)
c.983+971T>C (n.983+971T>C)
ClinVar dbSNP
17g.7669638A>TCA397830319TP53c.1153T>A (p.Phe385Ile)
c.757T>A (p.Phe253Ile)
c.874T>A (p.Phe292Ile)
c.1132T>A (p.Phe378Ile)
c.994-3394T>A (n.994-3394T>A)
c.782+4543T>A (n.782+4543T>A)
c.*260T>A (n.*260T>A)
c.*172T>A (n.*172T>A)
c.106T>A
c.1036T>A (p.Phe346Ile)
c.1120T>A (p.Phe374Ile)
c.676T>A (p.Phe226Ile)
c.983+971T>A (n.983+971T>A)
dbSNP
17g.7669638_7669640delinsCCA16620607TP53c.1151_1153delinsG (p.Met384SerfsTer7)
c.755_757delinsG (p.Met252SerfsTer7)
c.872_874delinsG (p.Met291SerfsTer7)
c.1130_1132delinsG (p.Met377SerfsTer7)
c.994-3396_994-3394delinsG (n.994-3396_994-3394delinsG)
c.782+4541_782+4543delinsG (n.782+4541_782+4543delinsG)
c.*258_*260delinsG (n.*258_*260delinsG)
c.*170_*172delinsG (n.*170_*172delinsG)
c.104_106delinsG
c.1034_1036delinsG (p.Met345SerfsTer7)
c.1118_1120delinsG (p.Met373SerfsTer7)
c.674_676delinsG (p.Met225SerfsTer7)
c.983+969_983+971delinsG (n.983+969_983+971delinsG)
ClinVar dbSNP
17g.7669639C>ACA397830332TP53c.1152G>T (p.Met384Ile)
c.756G>T (p.Met252Ile)
c.873G>T (p.Met291Ile)
c.1131G>T (p.Met377Ile)
c.994-3395G>T (n.994-3395G>T)
c.782+4542G>T (n.782+4542G>T)
c.*259G>T (n.*259G>T)
c.*171G>T (n.*171G>T)
c.105G>T
c.1035G>T (p.Met345Ile)
c.1119G>T (p.Met373Ile)
c.675G>T (p.Met225Ile)
c.983+970G>T (n.983+970G>T)
17g.7669639C=CA2245940611TP53c.1152G= (p.Met384=)
c.756G= (p.Met252=)
c.873G= (p.Met291=)
c.1131G= (p.Met377=)
c.994-3395G= (n.994-3395G=)
c.782+4542G= (n.782+4542G=)
c.*259G= (n.*259G=)
c.*171G= (n.*171G=)
c.105G=
c.1035G= (p.Met345=)
c.1119G= (p.Met373=)
c.675G= (p.Met225=)
c.983+970G= (n.983+970G=)
17g.7669639C>GCA397830334TP53c.1152G>C (p.Met384Ile)
c.756G>C (p.Met252Ile)
c.873G>C (p.Met291Ile)
c.1131G>C (p.Met377Ile)
c.994-3395G>C (n.994-3395G>C)
c.782+4542G>C (n.782+4542G>C)
c.*259G>C (n.*259G>C)
c.*171G>C (n.*171G>C)
c.105G>C
c.1035G>C (p.Met345Ile)
c.1119G>C (p.Met373Ile)
c.675G>C (p.Met225Ile)
c.983+970G>C (n.983+970G>C)
dbSNP
17g.7669639C>TCA397830333TP53c.1152G>A (p.Met384Ile)
c.756G>A (p.Met252Ile)
c.873G>A (p.Met291Ile)
c.1131G>A (p.Met377Ile)
c.994-3395G>A (n.994-3395G>A)
c.782+4542G>A (n.782+4542G>A)
c.*259G>A (n.*259G>A)
c.*171G>A (n.*171G>A)
c.105G>A
c.1035G>A (p.Met345Ile)
c.1119G>A (p.Met373Ile)
c.675G>A (p.Met225Ile)
c.983+970G>A (n.983+970G>A)
ClinVar dbSNP
17g.7669640A=CA2245940631TP53c.1151T= (p.Met384=)
c.755T= (p.Met252=)
c.872T= (p.Met291=)
c.1130T= (p.Met377=)
c.994-3396T= (n.994-3396T=)
c.782+4541T= (n.782+4541T=)
c.*258T= (n.*258T=)
c.*170T= (n.*170T=)
c.104T=
c.1034T= (p.Met345=)
c.1118T= (p.Met373=)
c.674T= (p.Met225=)
c.983+969T= (n.983+969T=)
17g.7669640A>CCA397830335TP53c.1151T>G (p.Met384Arg)
c.755T>G (p.Met252Arg)
c.872T>G (p.Met291Arg)
c.1130T>G (p.Met377Arg)
c.994-3396T>G (n.994-3396T>G)
c.782+4541T>G (n.782+4541T>G)
c.*258T>G (n.*258T>G)
c.*170T>G (n.*170T>G)
c.104T>G
c.1034T>G (p.Met345Arg)
c.1118T>G (p.Met373Arg)
c.674T>G (p.Met225Arg)
c.983+969T>G (n.983+969T>G)
ClinVar dbSNP gnomAD v4
17g.7669640A>GCA16615930TP53c.1151T>C (p.Met384Thr)
c.755T>C (p.Met252Thr)
c.872T>C (p.Met291Thr)
c.1130T>C (p.Met377Thr)
c.994-3396T>C (n.994-3396T>C)
c.782+4541T>C (n.782+4541T>C)
c.*258T>C (n.*258T>C)
c.*170T>C (n.*170T>C)
c.104T>C
c.1034T>C (p.Met345Thr)
c.1118T>C (p.Met373Thr)
c.674T>C (p.Met225Thr)
c.983+969T>C (n.983+969T>C)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.7669640A>TCA397830340TP53c.1151T>A (p.Met384Lys)
c.755T>A (p.Met252Lys)
c.872T>A (p.Met291Lys)
c.1130T>A (p.Met377Lys)
c.994-3396T>A (n.994-3396T>A)
c.782+4541T>A (n.782+4541T>A)
c.*258T>A (n.*258T>A)
c.*170T>A (n.*170T>A)
c.104T>A
c.1034T>A (p.Met345Lys)
c.1118T>A (p.Met373Lys)
c.674T>A (p.Met225Lys)
c.983+969T>A (n.983+969T>A)
dbSNP
17g.7669641T>ACA397830342TP53c.1150A>T (p.Met384Leu)
c.754A>T (p.Met252Leu)
c.871A>T (p.Met291Leu)
c.1129A>T (p.Met377Leu)
c.994-3397A>T (n.994-3397A>T)
c.782+4540A>T (n.782+4540A>T)
c.*257A>T (n.*257A>T)
c.*169A>T (n.*169A>T)
c.103A>T
c.1033A>T (p.Met345Leu)
c.1117A>T (p.Met373Leu)
c.673A>T (p.Met225Leu)
c.983+968A>T (n.983+968A>T)
ClinVar dbSNP
17g.7669641T>CCA000046TP53c.1150A>G (p.Met384Val)
c.754A>G (p.Met252Val)
c.871A>G (p.Met291Val)
c.1129A>G (p.Met377Val)
c.994-3397A>G (n.994-3397A>G)
c.782+4540A>G (n.782+4540A>G)
c.*257A>G (n.*257A>G)
c.*169A>G (n.*169A>G)
c.103A>G
c.1033A>G (p.Met345Val)
c.1117A>G (p.Met373Val)
c.673A>G (p.Met225Val)
c.983+968A>G (n.983+968A>G)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.7669641T>GCA397830345TP53c.1150A>C (p.Met384Leu)
c.754A>C (p.Met252Leu)
c.871A>C (p.Met291Leu)
c.1129A>C (p.Met377Leu)
c.994-3397A>C (n.994-3397A>C)
c.782+4540A>C (n.782+4540A>C)
c.*257A>C (n.*257A>C)
c.*169A>C (n.*169A>C)
c.103A>C
c.1033A>C (p.Met345Leu)
c.1117A>C (p.Met373Leu)
c.673A>C (p.Met225Leu)
c.983+968A>C (n.983+968A>C)
gnomAD v4
17g.7669641T=CA2245940637TP53c.1150A= (p.Met384=)
c.754A= (p.Met252=)
c.871A= (p.Met291=)
c.1129A= (p.Met377=)
c.994-3397A= (n.994-3397A=)
c.782+4540A= (n.782+4540A=)
c.*257A= (n.*257A=)
c.*169A= (n.*169A=)
c.103A=
c.1033A= (p.Met345=)
c.1117A= (p.Met373=)
c.673A= (p.Met225=)
c.983+968A= (n.983+968A=)
17g.7669642_7669648delCA981207258TP53c.1144_1150del (p.Lys382CysfsTer?)
c.748_754del (p.Lys250CysfsTer?)
c.865_871del (p.Lys289CysfsTer?)
c.1123_1129del (p.Lys375CysfsTer?)
c.994-3403_994-3397del (n.994-3403_994-3397del)
c.782+4534_782+4540del (n.782+4534_782+4540del)
c.*251_*257del (n.*251_*257del)
c.*163_*169del (n.*163_*169del)
c.97_103del
c.1027_1033del (p.Lys343CysfsTer?)
c.1111_1117del (p.Lys371CysfsTer?)
c.667_673del (p.Lys223CysfsTer?)
c.983+962_983+968del (n.983+962_983+968del)
gnomAD v3 gnomAD v4
17g.7669642G>ACA000045TP53c.1149C>T (p.Leu383=)
c.753C>T (p.Leu251=)
c.870C>T (p.Leu290=)
c.1128C>T (p.Leu376=)
c.994-3398C>T (n.994-3398C>T)
c.782+4539C>T (n.782+4539C>T)
c.*256C>T (n.*256C>T)
c.*168C>T (n.*168C>T)
c.102C>T
c.1032C>T (p.Leu344=)
c.1116C>T (p.Leu372=)
c.672C>T (p.Leu224=)
c.983+967C>T (n.983+967C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.7669642G>CCA497711331TP53c.1149C>G (p.Leu383=)
c.753C>G (p.Leu251=)
c.870C>G (p.Leu290=)
c.1128C>G (p.Leu376=)
c.994-3398C>G (n.994-3398C>G)
c.782+4539C>G (n.782+4539C>G)
c.*256C>G (n.*256C>G)
c.*168C>G (n.*168C>G)
c.102C>G
c.1032C>G (p.Leu344=)
c.1116C>G (p.Leu372=)
c.672C>G (p.Leu224=)
c.983+967C>G (n.983+967C>G)
dbSNP
17g.7669642G=CA2245940653TP53c.1149C= (p.Leu383=)
c.753C= (p.Leu251=)
c.870C= (p.Leu290=)
c.1128C= (p.Leu376=)
c.994-3398C= (n.994-3398C=)
c.782+4539C= (n.782+4539C=)
c.*256C= (n.*256C=)
c.*168C= (n.*168C=)
c.102C=
c.1032C= (p.Leu344=)
c.1116C= (p.Leu372=)
c.672C= (p.Leu224=)
c.983+967C= (n.983+967C=)
17g.7669642G>TCA497711335TP53c.1149C>A (p.Leu383=)
c.753C>A (p.Leu251=)
c.870C>A (p.Leu290=)
c.1128C>A (p.Leu376=)
c.994-3398C>A (n.994-3398C>A)
c.782+4539C>A (n.782+4539C>A)
c.*256C>A (n.*256C>A)
c.*168C>A (n.*168C>A)
c.102C>A
c.1032C>A (p.Leu344=)
c.1116C>A (p.Leu372=)
c.672C>A (p.Leu224=)
c.983+967C>A (n.983+967C>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.7669643_7669644delCA2580094805TP53c.1148_1149del (p.Leu383HisfsTer8)
c.752_753del (p.Leu251HisfsTer8)
c.869_870del (p.Leu290HisfsTer8)
c.1127_1128del (p.Leu376HisfsTer8)
c.994-3399_994-3398del (n.994-3399_994-3398del)
c.782+4538_782+4539del (n.782+4538_782+4539del)
c.*255_*256del (n.*255_*256del)
c.*167_*168del (n.*167_*168del)
c.101_102del
c.1031_1032del (p.Leu344HisfsTer8)
c.1115_1116del (p.Leu372HisfsTer8)
c.671_672del (p.Leu224HisfsTer8)
c.983+966_983+967del (n.983+966_983+967del)
ClinVar
17g.7669643A=CA2245940658TP53c.1148T= (p.Leu383=)
c.752T= (p.Leu251=)
c.869T= (p.Leu290=)
c.1127T= (p.Leu376=)
c.994-3399T= (n.994-3399T=)
c.782+4538T= (n.782+4538T=)
c.*255T= (n.*255T=)
c.*167T= (n.*167T=)
c.101T=
c.1031T= (p.Leu344=)
c.1115T= (p.Leu372=)
c.671T= (p.Leu224=)
c.983+966T= (n.983+966T=)
17g.7669643A>CCA397830362TP53c.1148T>G (p.Leu383Arg)
c.752T>G (p.Leu251Arg)
c.869T>G (p.Leu290Arg)
c.1127T>G (p.Leu376Arg)
c.994-3399T>G (n.994-3399T>G)
c.782+4538T>G (n.782+4538T>G)
c.*255T>G (n.*255T>G)
c.*167T>G (n.*167T>G)
c.101T>G
c.1031T>G (p.Leu344Arg)
c.1115T>G (p.Leu372Arg)
c.671T>G (p.Leu224Arg)
c.983+966T>G (n.983+966T>G)
17g.7669643A>GCA397830350TP53c.1148T>C (p.Leu383Pro)
c.752T>C (p.Leu251Pro)
c.869T>C (p.Leu290Pro)
c.1127T>C (p.Leu376Pro)
c.994-3399T>C (n.994-3399T>C)
c.782+4538T>C (n.782+4538T>C)
c.*255T>C (n.*255T>C)
c.*167T>C (n.*167T>C)
c.101T>C
c.1031T>C (p.Leu344Pro)
c.1115T>C (p.Leu372Pro)
c.671T>C (p.Leu224Pro)
c.983+966T>C (n.983+966T>C)
dbSNP
17g.7669643A>TCA397830357TP53c.1148T>A (p.Leu383His)
c.752T>A (p.Leu251His)
c.869T>A (p.Leu290His)
c.1127T>A (p.Leu376His)
c.994-3399T>A (n.994-3399T>A)
c.782+4538T>A (n.782+4538T>A)
c.*255T>A (n.*255T>A)
c.*167T>A (n.*167T>A)
c.101T>A
c.1031T>A (p.Leu344His)
c.1115T>A (p.Leu372His)
c.671T>A (p.Leu224His)
c.983+966T>A (n.983+966T>A)
dbSNP
17g.7669644G>ACA287485469TP53c.1147C>T (p.Leu383Phe)
c.751C>T (p.Leu251Phe)
c.868C>T (p.Leu290Phe)
c.1126C>T (p.Leu376Phe)
c.994-3400C>T (n.994-3400C>T)
c.782+4537C>T (n.782+4537C>T)
c.*254C>T (n.*254C>T)
c.*166C>T (n.*166C>T)
c.100C>T
c.1030C>T (p.Leu344Phe)
c.1114C>T (p.Leu372Phe)
c.670C>T (p.Leu224Phe)
c.983+965C>T (n.983+965C>T)
ClinVar dbSNP COSMIC
17g.7669644G>CCA397830374TP53c.1147C>G (p.Leu383Val)
c.751C>G (p.Leu251Val)
c.868C>G (p.Leu290Val)
c.1126C>G (p.Leu376Val)
c.994-3400C>G (n.994-3400C>G)
c.782+4537C>G (n.782+4537C>G)
c.*254C>G (n.*254C>G)
c.*166C>G (n.*166C>G)
c.100C>G
c.1030C>G (p.Leu344Val)
c.1114C>G (p.Leu372Val)
c.670C>G (p.Leu224Val)
c.983+965C>G (n.983+965C>G)
17g.7669644G=CA2245940663TP53c.1147C= (p.Leu383=)
c.751C= (p.Leu251=)
c.868C= (p.Leu290=)
c.1126C= (p.Leu376=)
c.994-3400C= (n.994-3400C=)
c.782+4537C= (n.782+4537C=)
c.*254C= (n.*254C=)
c.*166C= (n.*166C=)
c.100C=
c.1030C= (p.Leu344=)
c.1114C= (p.Leu372=)
c.670C= (p.Leu224=)
c.983+965C= (n.983+965C=)
17g.7669644G>TCA397830378TP53c.1147C>A (p.Leu383Ile)
c.751C>A (p.Leu251Ile)
c.868C>A (p.Leu290Ile)
c.1126C>A (p.Leu376Ile)
c.994-3400C>A (n.994-3400C>A)
c.782+4537C>A (n.782+4537C>A)
c.*254C>A (n.*254C>A)
c.*166C>A (n.*166C>A)
c.100C>A
c.1030C>A (p.Leu344Ile)
c.1114C>A (p.Leu372Ile)
c.670C>A (p.Leu224Ile)
c.983+965C>A (n.983+965C>A)
17g.7669644_7669645delinsGTCA2245940671TP53c.1146_1147delinsAC (p.Lys382=)
c.750_751delinsAC (p.Lys250=)
c.867_868delinsAC (p.Lys289=)
c.1125_1126delinsAC (p.Lys375=)
c.994-3401_994-3400delinsAC (n.994-3401_994-3400delinsAC)
c.782+4536_782+4537delinsAC (n.782+4536_782+4537delinsAC)
c.*253_*254delinsAC (n.*253_*254delinsAC)
c.*165_*166delinsAC (n.*165_*166delinsAC)
c.99_100delinsAC
c.1029_1030delinsAC (p.Lys343=)
c.1113_1114delinsAC (p.Lys371=)
c.669_670delinsAC (p.Lys223=)
c.983+964_983+965delinsAC (n.983+964_983+965delinsAC)
17g.7669645T>ACA397830393TP53c.1146A>T (p.Lys382Asn)
c.750A>T (p.Lys250Asn)
c.867A>T (p.Lys289Asn)
c.1125A>T (p.Lys375Asn)
c.994-3401A>T (n.994-3401A>T)
c.782+4536A>T (n.782+4536A>T)
c.*253A>T (n.*253A>T)
c.*165A>T (n.*165A>T)
c.99A>T
c.1029A>T (p.Lys343Asn)
c.1113A>T (p.Lys371Asn)
c.669A>T (p.Lys223Asn)
c.983+964A>T (n.983+964A>T)
dbSNP gnomAD v4
17g.7669645T>CCA497711360TP53c.1146A>G (p.Lys382=)
c.750A>G (p.Lys250=)
c.867A>G (p.Lys289=)
c.1125A>G (p.Lys375=)
c.994-3401A>G (n.994-3401A>G)
c.782+4536A>G (n.782+4536A>G)
c.*253A>G (n.*253A>G)
c.*165A>G (n.*165A>G)
c.99A>G
c.1029A>G (p.Lys343=)
c.1113A>G (p.Lys371=)
c.669A>G (p.Lys223=)
c.983+964A>G (n.983+964A>G)
ClinVar dbSNP gnomAD v4
17g.7669645T>GCA397830395TP53c.1146A>C (p.Lys382Asn)
c.750A>C (p.Lys250Asn)
c.867A>C (p.Lys289Asn)
c.1125A>C (p.Lys375Asn)
c.994-3401A>C (n.994-3401A>C)
c.782+4536A>C (n.782+4536A>C)
c.*253A>C (n.*253A>C)
c.*165A>C (n.*165A>C)
c.99A>C
c.1029A>C (p.Lys343Asn)
c.1113A>C (p.Lys371Asn)
c.669A>C (p.Lys223Asn)
c.983+964A>C (n.983+964A>C)
dbSNP
17g.7669645T=CA2245940680TP53c.1146A= (p.Lys382=)
c.750A= (p.Lys250=)
c.867A= (p.Lys289=)
c.1125A= (p.Lys375=)
c.994-3401A= (n.994-3401A=)
c.782+4536A= (n.782+4536A=)
c.*253A= (n.*253A=)
c.*165A= (n.*165A=)
c.99A=
c.1029A= (p.Lys343=)
c.1113A= (p.Lys371=)
c.669A= (p.Lys223=)
c.983+964A= (n.983+964A=)
17g.7669645_7669646delinsACA2740130142TP53c.1145_1146delinsT (p.Lys382IlefsTer?)
c.749_750delinsT (p.Lys250IlefsTer?)
c.866_867delinsT (p.Lys289IlefsTer?)
c.1124_1125delinsT (p.Lys375IlefsTer?)
c.994-3402_994-3401delinsT (n.994-3402_994-3401delinsT)
c.782+4535_782+4536delinsT (n.782+4535_782+4536delinsT)
c.*252_*253delinsT (n.*252_*253delinsT)
c.*164_*165delinsT (n.*164_*165delinsT)
c.98_99delinsT
c.1028_1029delinsT (p.Lys343IlefsTer?)
c.1112_1113delinsT (p.Lys371IlefsTer?)
c.668_669delinsT (p.Lys223IlefsTer?)
c.983+963_983+964delinsT (n.983+963_983+964delinsT)
17g.7669650dupCA2635879089TP53c.1146dup (p.Leu383ThrfsTer9)
c.750dup (p.Leu251ThrfsTer9)
c.867dup (p.Leu290ThrfsTer9)
c.1125dup (p.Leu376ThrfsTer9)
c.994-3401dup (n.994-3401dup)
c.782+4536dup (n.782+4536dup)
c.*253dup (n.*253dup)
c.*165dup (n.*165dup)
c.99dup
c.1029dup (p.Leu344ThrfsTer9)
c.1113dup (p.Leu372ThrfsTer9)
c.669dup (p.Leu224ThrfsTer9)
c.983+964dup (n.983+964dup)
ClinVar gnomAD v4
17g.7669650delCA497711354TP53c.1146del (p.Lys382AsnfsTer?)
c.750del (p.Lys250AsnfsTer?)
c.867del (p.Lys289AsnfsTer?)
c.1125del (p.Lys375AsnfsTer?)
c.994-3401del (n.994-3401del)
c.782+4536del (n.782+4536del)
c.*253del (n.*253del)
c.*165del (n.*165del)
c.99del
c.1029del (p.Lys343AsnfsTer?)
c.1113del (p.Lys371AsnfsTer?)
c.669del (p.Lys223AsnfsTer?)
c.983+964del (n.983+964del)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
17g.7669646T>ACA397830408TP53c.1145A>T (p.Lys382Ile)
c.749A>T (p.Lys250Ile)
c.866A>T (p.Lys289Ile)
c.1124A>T (p.Lys375Ile)
c.994-3402A>T (n.994-3402A>T)
c.782+4535A>T (n.782+4535A>T)
c.*252A>T (n.*252A>T)
c.*164A>T (n.*164A>T)
c.98A>T
c.1028A>T (p.Lys343Ile)
c.1112A>T (p.Lys371Ile)
c.668A>T (p.Lys223Ile)
c.983+963A>T (n.983+963A>T)
ClinVar gnomAD v4
17g.7669646T>CCA397830396TP53c.1145A>G (p.Lys382Arg)
c.749A>G (p.Lys250Arg)
c.866A>G (p.Lys289Arg)
c.1124A>G (p.Lys375Arg)
c.994-3402A>G (n.994-3402A>G)
c.782+4535A>G (n.782+4535A>G)
c.*252A>G (n.*252A>G)
c.*164A>G (n.*164A>G)
c.98A>G
c.1028A>G (p.Lys343Arg)
c.1112A>G (p.Lys371Arg)
c.668A>G (p.Lys223Arg)
c.983+963A>G (n.983+963A>G)
17g.7669646T>GCA397830397TP53c.1145A>C (p.Lys382Thr)
c.749A>C (p.Lys250Thr)
c.866A>C (p.Lys289Thr)
c.1124A>C (p.Lys375Thr)
c.994-3402A>C (n.994-3402A>C)
c.782+4535A>C (n.782+4535A>C)
c.*252A>C (n.*252A>C)
c.*164A>C (n.*164A>C)
c.98A>C
c.1028A>C (p.Lys343Thr)
c.1112A>C (p.Lys371Thr)
c.668A>C (p.Lys223Thr)
c.983+963A>C (n.983+963A>C)
ClinVar dbSNP
17g.7669646T=CA2245940684TP53c.1145A= (p.Lys382=)
c.749A= (p.Lys250=)
c.866A= (p.Lys289=)
c.1124A= (p.Lys375=)
c.994-3402A= (n.994-3402A=)
c.782+4535A= (n.782+4535A=)
c.*252A= (n.*252A=)
c.*164A= (n.*164A=)
c.98A=
c.1028A= (p.Lys343=)
c.1112A= (p.Lys371=)
c.668A= (p.Lys223=)
c.983+963A= (n.983+963A=)
17g.7669647T>ACA397830409TP53c.1144A>T (p.Lys382Ter)
c.748A>T (p.Lys250Ter)
c.865A>T (p.Lys289Ter)
c.1123A>T (p.Lys375Ter)
c.994-3403A>T (n.994-3403A>T)
c.782+4534A>T (n.782+4534A>T)
c.*251A>T (n.*251A>T)
c.*163A>T (n.*163A>T)
c.97A>T
c.1027A>T (p.Lys343Ter)
c.1111A>T (p.Lys371Ter)
c.667A>T (p.Lys223Ter)
c.983+962A>T (n.983+962A>T)
17g.7669647T>CCA397830410TP53c.1144A>G (p.Lys382Glu)
c.748A>G (p.Lys250Glu)
c.865A>G (p.Lys289Glu)
c.1123A>G (p.Lys375Glu)
c.994-3403A>G (n.994-3403A>G)
c.782+4534A>G (n.782+4534A>G)
c.*251A>G (n.*251A>G)
c.*163A>G (n.*163A>G)
c.97A>G
c.1027A>G (p.Lys343Glu)
c.1111A>G (p.Lys371Glu)
c.667A>G (p.Lys223Glu)
c.983+962A>G (n.983+962A>G)
17g.7669647T>GCA397830411TP53c.1144A>C (p.Lys382Gln)
c.748A>C (p.Lys250Gln)
c.865A>C (p.Lys289Gln)
c.1123A>C (p.Lys375Gln)
c.994-3403A>C (n.994-3403A>C)
c.782+4534A>C (n.782+4534A>C)
c.*251A>C (n.*251A>C)
c.*163A>C (n.*163A>C)
c.97A>C
c.1027A>C (p.Lys343Gln)
c.1111A>C (p.Lys371Gln)
c.667A>C (p.Lys223Gln)
c.983+962A>C (n.983+962A>C)
gnomAD v4
17g.7669648T>ACA397830414TP53c.1143A>T (p.Lys381Asn)
c.747A>T (p.Lys249Asn)
c.864A>T (p.Lys288Asn)
c.1122A>T (p.Lys374Asn)
c.994-3404A>T (n.994-3404A>T)
c.782+4533A>T (n.782+4533A>T)
c.*250A>T (n.*250A>T)
c.*162A>T (n.*162A>T)
c.96A>T
c.1026A>T (p.Lys342Asn)
c.1110A>T (p.Lys370Asn)
c.666A>T (p.Lys222Asn)
c.983+961A>T (n.983+961A>T)
COSMIC COSMIC
17g.7669648T>CCA497711381TP53c.1143A>G (p.Lys381=)
c.747A>G (p.Lys249=)
c.864A>G (p.Lys288=)
c.1122A>G (p.Lys374=)
c.994-3404A>G (n.994-3404A>G)
c.782+4533A>G (n.782+4533A>G)
c.*250A>G (n.*250A>G)
c.*162A>G (n.*162A>G)
c.96A>G
c.1026A>G (p.Lys342=)
c.1110A>G (p.Lys370=)
c.666A>G (p.Lys222=)
c.983+961A>G (n.983+961A>G)
17g.7669648T>GCA397830422TP53c.1143A>C (p.Lys381Asn)
c.747A>C (p.Lys249Asn)
c.864A>C (p.Lys288Asn)
c.1122A>C (p.Lys374Asn)
c.994-3404A>C (n.994-3404A>C)
c.782+4533A>C (n.782+4533A>C)
c.*250A>C (n.*250A>C)
c.*162A>C (n.*162A>C)
c.96A>C
c.1026A>C (p.Lys342Asn)
c.1110A>C (p.Lys370Asn)
c.666A>C (p.Lys222Asn)
c.983+961A>C (n.983+961A>C)
17g.7669649T>ACA397830435TP53c.1142A>T (p.Lys381Ile)
c.746A>T (p.Lys249Ile)
c.863A>T (p.Lys288Ile)
c.1121A>T (p.Lys374Ile)
c.994-3405A>T (n.994-3405A>T)
c.782+4532A>T (n.782+4532A>T)
c.*249A>T (n.*249A>T)
c.*161A>T (n.*161A>T)
c.95A>T
c.1025A>T (p.Lys342Ile)
c.1109A>T (p.Lys370Ile)
c.665A>T (p.Lys222Ile)
c.983+960A>T (n.983+960A>T)
dbSNP
17g.7669649T>CCA397830461TP53c.1142A>G (p.Lys381Arg)
c.746A>G (p.Lys249Arg)
c.863A>G (p.Lys288Arg)
c.1121A>G (p.Lys374Arg)
c.994-3405A>G (n.994-3405A>G)
c.782+4532A>G (n.782+4532A>G)
c.*249A>G (n.*249A>G)
c.*161A>G (n.*161A>G)
c.95A>G
c.1025A>G (p.Lys342Arg)
c.1109A>G (p.Lys370Arg)
c.665A>G (p.Lys222Arg)
c.983+960A>G (n.983+960A>G)
dbSNP
17g.7669649T>GCA397830470TP53c.1142A>C (p.Lys381Thr)
c.746A>C (p.Lys249Thr)
c.863A>C (p.Lys288Thr)
c.1121A>C (p.Lys374Thr)
c.994-3405A>C (n.994-3405A>C)
c.782+4532A>C (n.782+4532A>C)
c.*249A>C (n.*249A>C)
c.*161A>C (n.*161A>C)
c.95A>C
c.1025A>C (p.Lys342Thr)
c.1109A>C (p.Lys370Thr)
c.665A>C (p.Lys222Thr)
c.983+960A>C (n.983+960A>C)
17g.7669650T>ACA397830497TP53c.1141A>T (p.Lys381Ter)
c.745A>T (p.Lys249Ter)
c.862A>T (p.Lys288Ter)
c.1120A>T (p.Lys374Ter)
c.994-3406A>T (n.994-3406A>T)
c.782+4531A>T (n.782+4531A>T)
c.*248A>T (n.*248A>T)
c.*160A>T (n.*160A>T)
c.94A>T
c.1024A>T (p.Lys342Ter)
c.1108A>T (p.Lys370Ter)
c.664A>T (p.Lys222Ter)
c.983+959A>T (n.983+959A>T)
17g.7669650T>CCA397830503TP53c.1141A>G (p.Lys381Glu)
c.745A>G (p.Lys249Glu)
c.862A>G (p.Lys288Glu)
c.1120A>G (p.Lys374Glu)
c.994-3406A>G (n.994-3406A>G)
c.782+4531A>G (n.782+4531A>G)
c.*248A>G (n.*248A>G)
c.*160A>G (n.*160A>G)
c.94A>G
c.1024A>G (p.Lys342Glu)
c.1108A>G (p.Lys370Glu)
c.664A>G (p.Lys222Glu)
c.983+959A>G (n.983+959A>G)
ClinVar dbSNP
17g.7669650T>GCA397830505TP53c.1141A>C (p.Lys381Gln)
c.745A>C (p.Lys249Gln)
c.862A>C (p.Lys288Gln)
c.1120A>C (p.Lys374Gln)
c.994-3406A>C (n.994-3406A>C)
c.782+4531A>C (n.782+4531A>C)
c.*248A>C (n.*248A>C)
c.*160A>C (n.*160A>C)
c.94A>C
c.1024A>C (p.Lys342Gln)
c.1108A>C (p.Lys370Gln)
c.664A>C (p.Lys222Gln)
c.983+959A>C (n.983+959A>C)
17g.7669650T=CA2245940690TP53c.1141A= (p.Lys381=)
c.745A= (p.Lys249=)
c.862A= (p.Lys288=)
c.1120A= (p.Lys374=)
c.994-3406A= (n.994-3406A=)
c.782+4531A= (n.782+4531A=)
c.*248A= (n.*248A=)
c.*160A= (n.*160A=)
c.94A=
c.1024A= (p.Lys342=)
c.1108A= (p.Lys370=)
c.664A= (p.Lys222=)
c.983+959A= (n.983+959A=)
17g.7669650_7669651delinsTACA2245940692TP53c.1140_1141delinsTA (p.His380=)
c.744_745delinsTA (p.His248=)
c.861_862delinsTA (p.His287=)
c.1119_1120delinsTA (p.His373=)
c.994-3407_994-3406delinsTA (n.994-3407_994-3406delinsTA)
c.782+4530_782+4531delinsTA (n.782+4530_782+4531delinsTA)
c.*247_*248delinsTA (n.*247_*248delinsTA)
c.*159_*160delinsTA (n.*159_*160delinsTA)
c.93_94delinsTA
c.1023_1024delinsTA (p.His341=)
c.1107_1108delinsTA (p.His369=)
c.663_664delinsTA (p.His221=)
c.983+958_983+959delinsTA (n.983+958_983+959delinsTA)
17g.7669651delCA658656517TP53c.1140del (p.His380GlnfsTer?)
c.744del (p.His248GlnfsTer?)
c.861del (p.His287GlnfsTer?)
c.1119del (p.His373GlnfsTer?)
c.994-3407del (n.994-3407del)
c.782+4530del (n.782+4530del)
c.*247del (n.*247del)
c.*159del (n.*159del)
c.93del
c.1023del (p.His341GlnfsTer?)
c.1107del (p.His369GlnfsTer?)
c.663del (p.His221GlnfsTer?)
c.983+958del (n.983+958del)
ClinVar dbSNP
17g.7669651A>CCA397830526TP53c.1140T>G (p.His380Gln)
c.744T>G (p.His248Gln)
c.861T>G (p.His287Gln)
c.1119T>G (p.His373Gln)
c.994-3407T>G (n.994-3407T>G)
c.782+4530T>G (n.782+4530T>G)
c.*247T>G (n.*247T>G)
c.*159T>G (n.*159T>G)
c.93T>G
c.1023T>G (p.His341Gln)
c.1107T>G (p.His369Gln)
c.663T>G (p.His221Gln)
c.983+958T>G (n.983+958T>G)
17g.7669651A>GCA497711395TP53c.1140T>C (p.His380=)
c.744T>C (p.His248=)
c.861T>C (p.His287=)
c.1119T>C (p.His373=)
c.994-3407T>C (n.994-3407T>C)
c.782+4530T>C (n.782+4530T>C)
c.*247T>C (n.*247T>C)
c.*159T>C (n.*159T>C)
c.93T>C
c.1023T>C (p.His341=)
c.1107T>C (p.His369=)
c.663T>C (p.His221=)
c.983+958T>C (n.983+958T>C)
dbSNP COSMIC
17g.7669651A>TCA397830530TP53c.1140T>A (p.His380Gln)
c.744T>A (p.His248Gln)
c.861T>A (p.His287Gln)
c.1119T>A (p.His373Gln)
c.994-3407T>A (n.994-3407T>A)
c.782+4530T>A (n.782+4530T>A)
c.*247T>A (n.*247T>A)
c.*159T>A (n.*159T>A)
c.93T>A
c.1023T>A (p.His341Gln)
c.1107T>A (p.His369Gln)
c.663T>A (p.His221Gln)
c.983+958T>A (n.983+958T>A)
dbSNP
17g.7669651dupCA913190568TP53c.1140dup (p.Lys381Ter)
c.744dup (p.Lys249Ter)
c.861dup (p.Lys288Ter)
c.1119dup (p.Lys374Ter)
c.994-3407dup (n.994-3407dup)
c.782+4530dup (n.782+4530dup)
c.*247dup (n.*247dup)
c.*159dup (n.*159dup)
c.93dup
c.1023dup (p.Lys342Ter)
c.1107dup (p.Lys370Ter)
c.663dup (p.Lys222Ter)
c.983+958dup (n.983+958dup)
ClinVar dbSNP
17g.7669651_7669652delinsATCA2245940707TP53c.1139_1140delinsAT (p.His380=)
c.743_744delinsAT (p.His248=)
c.860_861delinsAT (p.His287=)
c.1118_1119delinsAT (p.His373=)
c.994-3408_994-3407delinsAT (n.994-3408_994-3407delinsAT)
c.782+4529_782+4530delinsAT (n.782+4529_782+4530delinsAT)
c.*246_*247delinsAT (n.*246_*247delinsAT)
c.*158_*159delinsAT (n.*158_*159delinsAT)
c.92_93delinsAT
c.1022_1023delinsAT (p.His341=)
c.1106_1107delinsAT (p.His369=)
c.662_663delinsAT (p.His221=)
c.983+957_983+958delinsAT (n.983+957_983+958delinsAT)
17g.7669652delCA645369641TP53c.1139del (p.His380LeufsTer?)
c.743del (p.His248LeufsTer?)
c.860del (p.His287LeufsTer?)
c.1118del (p.His373LeufsTer?)
c.994-3408del (n.994-3408del)
c.782+4529del (n.782+4529del)
c.*246del (n.*246del)
c.*158del (n.*158del)
c.92del
c.1022del (p.His341LeufsTer?)
c.1106del (p.His369LeufsTer?)
c.662del (p.His221LeufsTer?)
c.983+957del (n.983+957del)
ClinVar dbSNP
17g.7669652T>ACA397830533TP53c.1139A>T (p.His380Leu)
c.743A>T (p.His248Leu)
c.860A>T (p.His287Leu)
c.1118A>T (p.His373Leu)
c.994-3408A>T (n.994-3408A>T)
c.782+4529A>T (n.782+4529A>T)
c.*246A>T (n.*246A>T)
c.*158A>T (n.*158A>T)
c.92A>T
c.1022A>T (p.His341Leu)
c.1106A>T (p.His369Leu)
c.662A>T (p.His221Leu)
c.983+957A>T (n.983+957A>T)
17g.7669652T>CCA397830542TP53c.1139A>G (p.His380Arg)
c.743A>G (p.His248Arg)
c.860A>G (p.His287Arg)
c.1118A>G (p.His373Arg)
c.994-3408A>G (n.994-3408A>G)
c.782+4529A>G (n.782+4529A>G)
c.*246A>G (n.*246A>G)
c.*158A>G (n.*158A>G)
c.92A>G
c.1022A>G (p.His341Arg)
c.1106A>G (p.His369Arg)
c.662A>G (p.His221Arg)
c.983+957A>G (n.983+957A>G)
ClinVar gnomAD v4
17g.7669652T>GCA397830538TP53c.1139A>C (p.His380Pro)
c.743A>C (p.His248Pro)
c.860A>C (p.His287Pro)
c.1118A>C (p.His373Pro)
c.994-3408A>C (n.994-3408A>C)
c.782+4529A>C (n.782+4529A>C)
c.*246A>C (n.*246A>C)
c.*158A>C (n.*158A>C)
c.92A>C
c.1022A>C (p.His341Pro)
c.1106A>C (p.His369Pro)
c.662A>C (p.His221Pro)
c.983+957A>C (n.983+957A>C)
17g.7669653G>ACA397830553TP53c.1138C>T (p.His380Tyr)
c.742C>T (p.His248Tyr)
c.859C>T (p.His287Tyr)
c.1117C>T (p.His373Tyr)
c.994-3409C>T (n.994-3409C>T)
c.782+4528C>T (n.782+4528C>T)
c.*245C>T (n.*245C>T)
c.*157C>T (n.*157C>T)
c.91C>T
c.1021C>T (p.His341Tyr)
c.1105C>T (p.His369Tyr)
c.661C>T (p.His221Tyr)
c.983+956C>T (n.983+956C>T)
dbSNP COSMIC
17g.7669653G>CCA397830557TP53c.1138C>G (p.His380Asp)
c.742C>G (p.His248Asp)
c.859C>G (p.His287Asp)
c.1117C>G (p.His373Asp)
c.994-3409C>G (n.994-3409C>G)
c.782+4528C>G (n.782+4528C>G)
c.*245C>G (n.*245C>G)
c.*157C>G (n.*157C>G)
c.91C>G
c.1021C>G (p.His341Asp)
c.1105C>G (p.His369Asp)
c.661C>G (p.His221Asp)
c.983+956C>G (n.983+956C>G)
dbSNP
17g.7669653G>TCA397830561TP53c.1138C>A (p.His380Asn)
c.742C>A (p.His248Asn)
c.859C>A (p.His287Asn)
c.1117C>A (p.His373Asn)
c.994-3409C>A (n.994-3409C>A)
c.782+4528C>A (n.782+4528C>A)
c.*245C>A (n.*245C>A)
c.*157C>A (n.*157C>A)
c.91C>A
c.1021C>A (p.His341Asn)
c.1105C>A (p.His369Asn)
c.661C>A (p.His221Asn)
c.983+956C>A (n.983+956C>A)
17g.7669654G>ACA000044TP53c.1137C>T (p.Arg379=)
c.741C>T (p.Arg247=)
c.858C>T (p.Arg286=)
c.1116C>T (p.Arg372=)
c.994-3410C>T (n.994-3410C>T)
c.782+4527C>T (n.782+4527C>T)
c.*244C>T (n.*244C>T)
c.*156C>T (n.*156C>T)
c.90C>T
c.1020C>T (p.Arg340=)
c.1104C>T (p.Arg368=)
c.660C>T (p.Arg220=)
c.983+955C>T (n.983+955C>T)
ClinVar dbSNP
17g.7669654G>CCA497711413TP53c.1137C>G (p.Arg379=)
c.741C>G (p.Arg247=)
c.858C>G (p.Arg286=)
c.1116C>G (p.Arg372=)
c.994-3410C>G (n.994-3410C>G)
c.782+4527C>G (n.782+4527C>G)
c.*244C>G (n.*244C>G)
c.*156C>G (n.*156C>G)
c.90C>G
c.1020C>G (p.Arg340=)
c.1104C>G (p.Arg368=)
c.660C>G (p.Arg220=)
c.983+955C>G (n.983+955C>G)
dbSNP
17g.7669654G=CA2245940720TP53c.1137C= (p.Arg379=)
c.741C= (p.Arg247=)
c.858C= (p.Arg286=)
c.1116C= (p.Arg372=)
c.994-3410C= (n.994-3410C=)
c.782+4527C= (n.782+4527C=)
c.*244C= (n.*244C=)
c.*156C= (n.*156C=)
c.90C=
c.1020C= (p.Arg340=)
c.1104C= (p.Arg368=)
c.660C= (p.Arg220=)
c.983+955C= (n.983+955C=)
17g.7669654G>TCA497711416TP53c.1137C>A (p.Arg379=)
c.741C>A (p.Arg247=)
c.858C>A (p.Arg286=)
c.1116C>A (p.Arg372=)
c.994-3410C>A (n.994-3410C>A)
c.782+4527C>A (n.782+4527C>A)
c.*244C>A (n.*244C>A)
c.*156C>A (n.*156C>A)
c.90C>A
c.1020C>A (p.Arg340=)
c.1104C>A (p.Arg368=)
c.660C>A (p.Arg220=)
c.983+955C>A (n.983+955C>A)
dbSNP
17g.7669655C>ACA338506TP53c.1136G>T (p.Arg379Leu)
c.740G>T (p.Arg247Leu)
c.857G>T (p.Arg286Leu)
c.1115G>T (p.Arg372Leu)
c.994-3411G>T (n.994-3411G>T)
c.782+4526G>T (n.782+4526G>T)
c.*243G>T (n.*243G>T)
c.*155G>T (n.*155G>T)
c.89G>T
c.1019G>T (p.Arg340Leu)
c.1103G>T (p.Arg368Leu)
c.659G>T (p.Arg220Leu)
c.983+954G>T (n.983+954G>T)
ClinVar dbSNP gnomAD v4
17g.7669655C=CA2245940740TP53c.1136G= (p.Arg379=)
c.740G= (p.Arg247=)
c.857G= (p.Arg286=)
c.1115G= (p.Arg372=)
c.994-3411G= (n.994-3411G=)
c.782+4526G= (n.782+4526G=)
c.*243G= (n.*243G=)
c.*155G= (n.*155G=)
c.89G=
c.1019G= (p.Arg340=)
c.1103G= (p.Arg368=)
c.659G= (p.Arg220=)
c.983+954G= (n.983+954G=)
17g.7669655C>GCA397830571TP53c.1136G>C (p.Arg379Pro)
c.740G>C (p.Arg247Pro)
c.857G>C (p.Arg286Pro)
c.1115G>C (p.Arg372Pro)
c.994-3411G>C (n.994-3411G>C)
c.782+4526G>C (n.782+4526G>C)
c.*243G>C (n.*243G>C)
c.*155G>C (n.*155G>C)
c.89G>C
c.1019G>C (p.Arg340Pro)
c.1103G>C (p.Arg368Pro)
c.659G>C (p.Arg220Pro)
c.983+954G>C (n.983+954G>C)
COSMIC
17g.7669655C>TCA10584584TP53c.1136G>A (p.Arg379His)
c.740G>A (p.Arg247His)
c.857G>A (p.Arg286His)
c.1115G>A (p.Arg372His)
c.994-3411G>A (n.994-3411G>A)
c.782+4526G>A (n.782+4526G>A)
c.*243G>A (n.*243G>A)
c.*155G>A (n.*155G>A)
c.89G>A
c.1019G>A (p.Arg340His)
c.1103G>A (p.Arg368His)
c.659G>A (p.Arg220His)
c.983+954G>A (n.983+954G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.7669655_7669656delinsCGCA2245940748TP53c.1135_1136delinsCG (p.Arg379=)
c.739_740delinsCG (p.Arg247=)
c.856_857delinsCG (p.Arg286=)
c.1114_1115delinsCG (p.Arg372=)
c.994-3412_994-3411delinsCG (n.994-3412_994-3411delinsCG)
c.782+4525_782+4526delinsCG (n.782+4525_782+4526delinsCG)
c.*242_*243delinsCG (n.*242_*243delinsCG)
c.*154_*155delinsCG (n.*154_*155delinsCG)
c.88_89delinsCG
c.1018_1019delinsCG (p.Arg340=)
c.1102_1103delinsCG (p.Arg368=)
c.658_659delinsCG (p.Arg220=)
c.983+953_983+954delinsCG (n.983+953_983+954delinsCG)
17g.7669656G>ACA000043TP53c.1135C>T (p.Arg379Cys)
c.739C>T (p.Arg247Cys)
c.856C>T (p.Arg286Cys)
c.1114C>T (p.Arg372Cys)
c.994-3412C>T (n.994-3412C>T)
c.782+4525C>T (n.782+4525C>T)
c.*242C>T (n.*242C>T)
c.*154C>T (n.*154C>T)
c.88C>T
c.1018C>T (p.Arg340Cys)
c.1102C>T (p.Arg368Cys)
c.658C>T (p.Arg220Cys)
c.983+953C>T (n.983+953C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.7669656G>CCA397830588TP53c.1135C>G (p.Arg379Gly)
c.739C>G (p.Arg247Gly)
c.856C>G (p.Arg286Gly)
c.1114C>G (p.Arg372Gly)
c.994-3412C>G (n.994-3412C>G)
c.782+4525C>G (n.782+4525C>G)
c.*242C>G (n.*242C>G)
c.*154C>G (n.*154C>G)
c.88C>G
c.1018C>G (p.Arg340Gly)
c.1102C>G (p.Arg368Gly)
c.658C>G (p.Arg220Gly)
c.983+953C>G (n.983+953C>G)
dbSNP
17g.7669656G=CA2245940761TP53c.1135C= (p.Arg379=)
c.739C= (p.Arg247=)
c.856C= (p.Arg286=)
c.1114C= (p.Arg372=)
c.994-3412C= (n.994-3412C=)
c.782+4525C= (n.782+4525C=)
c.*242C= (n.*242C=)
c.*154C= (n.*154C=)
c.88C=
c.1018C= (p.Arg340=)
c.1102C= (p.Arg368=)
c.658C= (p.Arg220=)
c.983+953C= (n.983+953C=)
17g.7669656G>TCA000042TP53c.1135C>A (p.Arg379Ser)
c.739C>A (p.Arg247Ser)
c.856C>A (p.Arg286Ser)
c.1114C>A (p.Arg372Ser)
c.994-3412C>A (n.994-3412C>A)
c.782+4525C>A (n.782+4525C>A)
c.*242C>A (n.*242C>A)
c.*154C>A (n.*154C>A)
c.88C>A
c.1018C>A (p.Arg340Ser)
c.1102C>A (p.Arg368Ser)
c.658C>A (p.Arg220Ser)
c.983+953C>A (n.983+953C>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.7669658_7669659insGGGGGCA624725479TP53c.1135_1136insCCCCC (p.Arg379ProfsTer?)
c.739_740insCCCCC (p.Arg247ProfsTer?)
c.856_857insCCCCC (p.Arg286ProfsTer?)
c.1114_1115insCCCCC (p.Arg372ProfsTer?)
c.994-3412_994-3411insCCCCC (n.994-3412_994-3411insCCCCC)
c.782+4525_782+4526insCCCCC (n.782+4525_782+4526insCCCCC)
c.*242_*243insCCCCC (n.*242_*243insCCCCC)
c.*154_*155insCCCCC (n.*154_*155insCCCCC)
c.88_89insCCCCC
c.1018_1019insCCCCC (p.Arg340ProfsTer?)
c.1102_1103insCCCCC (p.Arg368ProfsTer?)
c.658_659insCCCCC (p.Arg220ProfsTer?)
c.983+953_983+954insCCCCC (n.983+953_983+954insCCCCC)
gnomAD v2
17g.7669658delCA2245940756TP53c.1135del (p.Arg379AlafsTer?)
c.739del (p.Arg247AlafsTer?)
c.856del (p.Arg286AlafsTer?)
c.1114del (p.Arg372AlafsTer?)
c.994-3412del (n.994-3412del)
c.782+4525del (n.782+4525del)
c.*242del (n.*242del)
c.*154del (n.*154del)
c.88del
c.1018del (p.Arg340AlafsTer?)
c.1102del (p.Arg368AlafsTer?)
c.658del (p.Arg220AlafsTer?)
c.983+953del (n.983+953del)
ClinVar dbSNP
17g.7669657G>ACA16615684TP53c.1134C>T (p.Ser378=)
c.738C>T (p.Ser246=)
c.855C>T (p.Ser285=)
c.1113C>T (p.Ser371=)
c.994-3413C>T (n.994-3413C>T)
c.782+4524C>T (n.782+4524C>T)
c.*241C>T (n.*241C>T)
c.*153C>T (n.*153C>T)
c.87C>T
c.1017C>T (p.Ser339=)
c.1101C>T (p.Ser367=)
c.657C>T (p.Ser219=)
c.983+952C>T (n.983+952C>T)
ClinVar dbSNP
17g.7669657G>CCA497711434TP53c.1134C>G (p.Ser378=)
c.738C>G (p.Ser246=)
c.855C>G (p.Ser285=)
c.1113C>G (p.Ser371=)
c.994-3413C>G (n.994-3413C>G)
c.782+4524C>G (n.782+4524C>G)
c.*241C>G (n.*241C>G)
c.*153C>G (n.*153C>G)
c.87C>G
c.1017C>G (p.Ser339=)
c.1101C>G (p.Ser367=)
c.657C>G (p.Ser219=)
c.983+952C>G (n.983+952C>G)
dbSNP
17g.7669657G=CA2245940783TP53c.1134C= (p.Ser378=)
c.738C= (p.Ser246=)
c.855C= (p.Ser285=)
c.1113C= (p.Ser371=)
c.994-3413C= (n.994-3413C=)
c.782+4524C= (n.782+4524C=)
c.*241C= (n.*241C=)
c.*153C= (n.*153C=)
c.87C=
c.1017C= (p.Ser339=)
c.1101C= (p.Ser367=)
c.657C= (p.Ser219=)
c.983+952C= (n.983+952C=)
17g.7669657G>TCA497711436TP53c.1134C>A (p.Ser378=)
c.738C>A (p.Ser246=)
c.855C>A (p.Ser285=)
c.1113C>A (p.Ser371=)
c.994-3413C>A (n.994-3413C>A)
c.782+4524C>A (n.782+4524C>A)
c.*241C>A (n.*241C>A)
c.*153C>A (n.*153C>A)
c.87C>A
c.1017C>A (p.Ser339=)
c.1101C>A (p.Ser367=)
c.657C>A (p.Ser219=)
c.983+952C>A (n.983+952C>A)
dbSNP
17g.7669658G>ACA397830598TP53c.1133C>T (p.Ser378Phe)
c.737C>T (p.Ser246Phe)
c.854C>T (p.Ser285Phe)
c.1112C>T (p.Ser371Phe)
c.994-3414C>T (n.994-3414C>T)
c.782+4523C>T (n.782+4523C>T)
c.*240C>T (n.*240C>T)
c.*152C>T (n.*152C>T)
c.86C>T
c.1016C>T (p.Ser339Phe)
c.1100C>T (p.Ser367Phe)
c.656C>T (p.Ser219Phe)
c.983+951C>T (n.983+951C>T)
dbSNP COSMIC COSMIC
17g.7669658G>CCA397830603TP53c.1133C>G (p.Ser378Cys)
c.737C>G (p.Ser246Cys)
c.854C>G (p.Ser285Cys)
c.1112C>G (p.Ser371Cys)
c.994-3414C>G (n.994-3414C>G)
c.782+4523C>G (n.782+4523C>G)
c.*240C>G (n.*240C>G)
c.*152C>G (n.*152C>G)
c.86C>G
c.1016C>G (p.Ser339Cys)
c.1100C>G (p.Ser367Cys)
c.656C>G (p.Ser219Cys)
c.983+951C>G (n.983+951C>G)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.7669658G=CA2245940792TP53c.1133C= (p.Ser378=)
c.737C= (p.Ser246=)
c.854C= (p.Ser285=)
c.1112C= (p.Ser371=)
c.994-3414C= (n.994-3414C=)
c.782+4523C= (n.782+4523C=)
c.*240C= (n.*240C=)
c.*152C= (n.*152C=)
c.86C=
c.1016C= (p.Ser339=)
c.1100C= (p.Ser367=)
c.656C= (p.Ser219=)
c.983+951C= (n.983+951C=)
17g.7669658G>TCA397830605TP53c.1133C>A (p.Ser378Tyr)
c.737C>A (p.Ser246Tyr)
c.854C>A (p.Ser285Tyr)
c.1112C>A (p.Ser371Tyr)
c.994-3414C>A (n.994-3414C>A)
c.782+4523C>A (n.782+4523C>A)
c.*240C>A (n.*240C>A)
c.*152C>A (n.*152C>A)
c.86C>A
c.1016C>A (p.Ser339Tyr)
c.1100C>A (p.Ser367Tyr)
c.656C>A (p.Ser219Tyr)
c.983+951C>A (n.983+951C>A)
dbSNP
17g.7669659A=CA2245940802TP53c.1132T= (p.Ser378=)
c.736T= (p.Ser246=)
c.853T= (p.Ser285=)
c.1111T= (p.Ser371=)
c.994-3415T= (n.994-3415T=)
c.782+4522T= (n.782+4522T=)
c.*239T= (n.*239T=)
c.*151T= (n.*151T=)
c.85T=
c.1015T= (p.Ser339=)
c.1099T= (p.Ser367=)
c.655T= (p.Ser219=)
c.983+950T= (n.983+950T=)
17g.7669659A>CCA397830612TP53c.1132T>G (p.Ser378Ala)
c.736T>G (p.Ser246Ala)
c.853T>G (p.Ser285Ala)
c.1111T>G (p.Ser371Ala)
c.994-3415T>G (n.994-3415T>G)
c.782+4522T>G (n.782+4522T>G)
c.*239T>G (n.*239T>G)
c.*151T>G (n.*151T>G)
c.85T>G
c.1015T>G (p.Ser339Ala)
c.1099T>G (p.Ser367Ala)
c.655T>G (p.Ser219Ala)
c.983+950T>G (n.983+950T>G)
17g.7669659A>GCA000671TP53c.1132T>C (p.Ser378Pro)
c.736T>C (p.Ser246Pro)
c.853T>C (p.Ser285Pro)
c.1111T>C (p.Ser371Pro)
c.994-3415T>C (n.994-3415T>C)
c.782+4522T>C (n.782+4522T>C)
c.*239T>C (n.*239T>C)
c.*151T>C (n.*151T>C)
c.85T>C
c.1015T>C (p.Ser339Pro)
c.1099T>C (p.Ser367Pro)
c.655T>C (p.Ser219Pro)
c.983+950T>C (n.983+950T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.7669659A>TCA397830609TP53c.1132T>A (p.Ser378Thr)
c.736T>A (p.Ser246Thr)
c.853T>A (p.Ser285Thr)
c.1111T>A (p.Ser371Thr)
c.994-3415T>A (n.994-3415T>A)
c.782+4522T>A (n.782+4522T>A)
c.*239T>A (n.*239T>A)
c.*151T>A (n.*151T>A)
c.85T>A
c.1015T>A (p.Ser339Thr)
c.1099T>A (p.Ser367Thr)
c.655T>A (p.Ser219Thr)
c.983+950T>A (n.983+950T>A)
dbSNP
17g.7669660G>ACA497711452TP53c.1131C>T (p.Thr377=)
c.735C>T (p.Thr245=)
c.852C>T (p.Thr284=)
c.1110C>T (p.Thr370=)
c.994-3416C>T (n.994-3416C>T)
c.782+4521C>T (n.782+4521C>T)
c.*238C>T (n.*238C>T)
c.*150C>T (n.*150C>T)
c.84C>T
c.1014C>T (p.Thr338=)
c.1098C>T (p.Thr366=)
c.654C>T (p.Thr218=)
c.983+949C>T (n.983+949C>T)
ClinVar dbSNP gnomAD v4
17g.7669660G>CCA497711455TP53c.1131C>G (p.Thr377=)
c.735C>G (p.Thr245=)
c.852C>G (p.Thr284=)
c.1110C>G (p.Thr370=)
c.994-3416C>G (n.994-3416C>G)
c.782+4521C>G (n.782+4521C>G)
c.*238C>G (n.*238C>G)
c.*150C>G (n.*150C>G)
c.84C>G
c.1014C>G (p.Thr338=)
c.1098C>G (p.Thr366=)
c.654C>G (p.Thr218=)
c.983+949C>G (n.983+949C>G)
dbSNP gnomAD v2 gnomAD v4
17g.7669660G=CA2245940814TP53c.1131C= (p.Thr377=)
c.735C= (p.Thr245=)
c.852C= (p.Thr284=)
c.1110C= (p.Thr370=)
c.994-3416C= (n.994-3416C=)
c.782+4521C= (n.782+4521C=)
c.*238C= (n.*238C=)
c.*150C= (n.*150C=)
c.84C=
c.1014C= (p.Thr338=)
c.1098C= (p.Thr366=)
c.654C= (p.Thr218=)
c.983+949C= (n.983+949C=)
17g.7669660G>TCA497711458TP53c.1131C>A (p.Thr377=)
c.735C>A (p.Thr245=)
c.852C>A (p.Thr284=)
c.1110C>A (p.Thr370=)
c.994-3416C>A (n.994-3416C>A)
c.782+4521C>A (n.782+4521C>A)
c.*238C>A (n.*238C>A)
c.*150C>A (n.*150C>A)
c.84C>A
c.1014C>A (p.Thr338=)
c.1098C>A (p.Thr366=)
c.654C>A (p.Thr218=)
c.983+949C>A (n.983+949C>A)
ClinVar dbSNP gnomAD v4
17g.7669661G>ACA397830619TP53c.1130C>T (p.Thr377Ile)
c.734C>T (p.Thr245Ile)
c.851C>T (p.Thr284Ile)
c.1109C>T (p.Thr370Ile)
c.994-3417C>T (n.994-3417C>T)
c.782+4520C>T (n.782+4520C>T)
c.*237C>T (n.*237C>T)
c.*149C>T (n.*149C>T)
c.83C>T
c.1013C>T (p.Thr338Ile)
c.1097C>T (p.Thr366Ile)
c.653C>T (p.Thr218Ile)
c.983+948C>T (n.983+948C>T)
ClinVar dbSNP COSMIC
17g.7669661G>CCA397830621TP53c.1130C>G (p.Thr377Ser)
c.734C>G (p.Thr245Ser)
c.851C>G (p.Thr284Ser)
c.1109C>G (p.Thr370Ser)
c.994-3417C>G (n.994-3417C>G)
c.782+4520C>G (n.782+4520C>G)
c.*237C>G (n.*237C>G)
c.*149C>G (n.*149C>G)
c.83C>G
c.1013C>G (p.Thr338Ser)
c.1097C>G (p.Thr366Ser)
c.653C>G (p.Thr218Ser)
c.983+948C>G (n.983+948C>G)
dbSNP
17g.7669661G=CA2245940833TP53c.1130C= (p.Thr377=)
c.734C= (p.Thr245=)
c.851C= (p.Thr284=)
c.1109C= (p.Thr370=)
c.994-3417C= (n.994-3417C=)
c.782+4520C= (n.782+4520C=)
c.*237C= (n.*237C=)
c.*149C= (n.*149C=)
c.83C=
c.1013C= (p.Thr338=)
c.1097C= (p.Thr366=)
c.653C= (p.Thr218=)
c.983+948C= (n.983+948C=)
17g.7669661G>TCA397830625TP53c.1130C>A (p.Thr377Asn)
c.734C>A (p.Thr245Asn)
c.851C>A (p.Thr284Asn)
c.1109C>A (p.Thr370Asn)
c.994-3417C>A (n.994-3417C>A)
c.782+4520C>A (n.782+4520C>A)
c.*237C>A (n.*237C>A)
c.*149C>A (n.*149C>A)
c.83C>A
c.1013C>A (p.Thr338Asn)
c.1097C>A (p.Thr366Asn)
c.653C>A (p.Thr218Asn)
c.983+948C>A (n.983+948C>A)
17g.7669661_7669662delinsGTCA2245940830TP53c.1129_1130delinsAC (p.Thr377=)
c.733_734delinsAC (p.Thr245=)
c.850_851delinsAC (p.Thr284=)
c.1108_1109delinsAC (p.Thr370=)
c.994-3418_994-3417delinsAC (n.994-3418_994-3417delinsAC)
c.782+4519_782+4520delinsAC (n.782+4519_782+4520delinsAC)
c.*236_*237delinsAC (n.*236_*237delinsAC)
c.*148_*149delinsAC (n.*148_*149delinsAC)
c.82_83delinsAC
c.1012_1013delinsAC (p.Thr338=)
c.1096_1097delinsAC (p.Thr366=)
c.652_653delinsAC (p.Thr218=)
c.983+947_983+948delinsAC (n.983+947_983+948delinsAC)
17g.7669662delCA000672TP53c.1129del (p.Thr377ProfsTer?)
c.733del (p.Thr245ProfsTer?)
c.850del (p.Thr284ProfsTer?)
c.1108del (p.Thr370ProfsTer?)
c.994-3418del (n.994-3418del)
c.782+4519del (n.782+4519del)
c.*236del (n.*236del)
c.*148del (n.*148del)
c.82del
c.1012del (p.Thr338ProfsTer?)
c.1096del (p.Thr366ProfsTer?)
c.652del (p.Thr218ProfsTer?)
c.983+947del (n.983+947del)
dbSNP ExAC
17g.7669662T>ACA397830630TP53c.1129A>T (p.Thr377Ser)
c.733A>T (p.Thr245Ser)
c.850A>T (p.Thr284Ser)
c.1108A>T (p.Thr370Ser)
c.994-3418A>T (n.994-3418A>T)
c.782+4519A>T (n.782+4519A>T)
c.*236A>T (n.*236A>T)
c.*148A>T (n.*148A>T)
c.82A>T
c.1012A>T (p.Thr338Ser)
c.1096A>T (p.Thr366Ser)
c.652A>T (p.Thr218Ser)
c.983+947A>T (n.983+947A>T)
dbSNP gnomAD v2 gnomAD v4
17g.7669662T>CCA397830631TP53c.1129A>G (p.Thr377Ala)
c.733A>G (p.Thr245Ala)
c.850A>G (p.Thr284Ala)
c.1108A>G (p.Thr370Ala)
c.994-3418A>G (n.994-3418A>G)
c.782+4519A>G (n.782+4519A>G)
c.*236A>G (n.*236A>G)
c.*148A>G (n.*148A>G)
c.82A>G
c.1012A>G (p.Thr338Ala)
c.1096A>G (p.Thr366Ala)
c.652A>G (p.Thr218Ala)
c.983+947A>G (n.983+947A>G)
ClinVar dbSNP
17g.7669662T>GCA000673TP53c.1129A>C (p.Thr377Pro)
c.733A>C (p.Thr245Pro)
c.850A>C (p.Thr284Pro)
c.1108A>C (p.Thr370Pro)
c.994-3418A>C (n.994-3418A>C)
c.782+4519A>C (n.782+4519A>C)
c.*236A>C (n.*236A>C)
c.*148A>C (n.*148A>C)
c.82A>C
c.1012A>C (p.Thr338Pro)
c.1096A>C (p.Thr366Pro)
c.652A>C (p.Thr218Pro)
c.983+947A>C (n.983+947A>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.7669662T=CA2245940856TP53c.1129A= (p.Thr377=)
c.733A= (p.Thr245=)
c.850A= (p.Thr284=)
c.1108A= (p.Thr370=)
c.994-3418A= (n.994-3418A=)
c.782+4519A= (n.782+4519A=)
c.*236A= (n.*236A=)
c.*148A= (n.*148A=)
c.82A=
c.1012A= (p.Thr338=)
c.1096A= (p.Thr366=)
c.652A= (p.Thr218=)
c.983+947A= (n.983+947A=)
17g.7669663A=CA2245940871TP53c.1128T= (p.Ser376=)
c.732T= (p.Ser244=)
c.849T= (p.Ser283=)
c.1107T= (p.Ser369=)
c.994-3419T= (n.994-3419T=)
c.782+4518T= (n.782+4518T=)
c.*235T= (n.*235T=)
c.*147T= (n.*147T=)
c.81T=
c.1011T= (p.Ser337=)
c.1095T= (p.Ser365=)
c.651T= (p.Ser217=)
c.983+946T= (n.983+946T=)
17g.7669663A>CCA497711472TP53c.1128T>G (p.Ser376=)
c.732T>G (p.Ser244=)
c.849T>G (p.Ser283=)
c.1107T>G (p.Ser369=)
c.994-3419T>G (n.994-3419T>G)
c.782+4518T>G (n.782+4518T>G)
c.*235T>G (n.*235T>G)
c.*147T>G (n.*147T>G)
c.81T>G
c.1011T>G (p.Ser337=)
c.1095T>G (p.Ser365=)
c.651T>G (p.Ser217=)
c.983+946T>G (n.983+946T>G)
17g.7669663A>GCA000674TP53c.1128T>C (p.Ser376=)
c.732T>C (p.Ser244=)
c.849T>C (p.Ser283=)
c.1107T>C (p.Ser369=)
c.994-3419T>C (n.994-3419T>C)
c.782+4518T>C (n.782+4518T>C)
c.*235T>C (n.*235T>C)
c.*147T>C (n.*147T>C)
c.81T>C
c.1011T>C (p.Ser337=)
c.1095T>C (p.Ser365=)
c.651T>C (p.Ser217=)
c.983+946T>C (n.983+946T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.7669663A>TCA497711476TP53c.1128T>A (p.Ser376=)
c.732T>A (p.Ser244=)
c.849T>A (p.Ser283=)
c.1107T>A (p.Ser369=)
c.994-3419T>A (n.994-3419T>A)
c.782+4518T>A (n.782+4518T>A)
c.*235T>A (n.*235T>A)
c.*147T>A (n.*147T>A)
c.81T>A
c.1011T>A (p.Ser337=)
c.1095T>A (p.Ser365=)
c.651T>A (p.Ser217=)
c.983+946T>A (n.983+946T>A)
dbSNP
17g.7669664G>ACA397830633TP53c.1127C>T (p.Ser376Phe)
c.731C>T (p.Ser244Phe)
c.848C>T (p.Ser283Phe)
c.1106C>T (p.Ser369Phe)
c.994-3420C>T (n.994-3420C>T)
c.782+4517C>T (n.782+4517C>T)
c.*234C>T (n.*234C>T)
c.*146C>T (n.*146C>T)
c.80C>T
c.1010C>T (p.Ser337Phe)
c.1094C>T (p.Ser365Phe)
c.650C>T (p.Ser217Phe)
c.983+945C>T (n.983+945C>T)
ClinVar dbSNP COSMIC COSMIC
17g.7669664G>CCA397830636TP53c.1127C>G (p.Ser376Cys)
c.731C>G (p.Ser244Cys)
c.848C>G (p.Ser283Cys)
c.1106C>G (p.Ser369Cys)
c.994-3420C>G (n.994-3420C>G)
c.782+4517C>G (n.782+4517C>G)
c.*234C>G (n.*234C>G)
c.*146C>G (n.*146C>G)
c.80C>G
c.1010C>G (p.Ser337Cys)
c.1094C>G (p.Ser365Cys)
c.650C>G (p.Ser217Cys)
c.983+945C>G (n.983+945C>G)
dbSNP COSMIC COSMIC
17g.7669664G=CA2245940883TP53c.1127C= (p.Ser376=)
c.731C= (p.Ser244=)
c.848C= (p.Ser283=)
c.1106C= (p.Ser369=)
c.994-3420C= (n.994-3420C=)
c.782+4517C= (n.782+4517C=)
c.*234C= (n.*234C=)
c.*146C= (n.*146C=)
c.80C=
c.1010C= (p.Ser337=)
c.1094C= (p.Ser365=)
c.650C= (p.Ser217=)
c.983+945C= (n.983+945C=)
17g.7669664G>TCA397830645TP53c.1127C>A (p.Ser376Tyr)
c.731C>A (p.Ser244Tyr)
c.848C>A (p.Ser283Tyr)
c.1106C>A (p.Ser369Tyr)
c.994-3420C>A (n.994-3420C>A)
c.782+4517C>A (n.782+4517C>A)
c.*234C>A (n.*234C>A)
c.*146C>A (n.*146C>A)
c.80C>A
c.1010C>A (p.Ser337Tyr)
c.1094C>A (p.Ser365Tyr)
c.650C>A (p.Ser217Tyr)
c.983+945C>A (n.983+945C>A)
dbSNP
17g.7669665A=CA2245940900TP53c.1126T= (p.Ser376=)
c.730T= (p.Ser244=)
c.847T= (p.Ser283=)
c.1105T= (p.Ser369=)
c.994-3421T= (n.994-3421T=)
c.782+4516T= (n.782+4516T=)
c.*233T= (n.*233T=)
c.*145T= (n.*145T=)
c.79T=
c.1009T= (p.Ser337=)
c.1093T= (p.Ser365=)
c.649T= (p.Ser217=)
c.983+944T= (n.983+944T=)
17g.7669665A>CCA397830653TP53c.1126T>G (p.Ser376Ala)
c.730T>G (p.Ser244Ala)
c.847T>G (p.Ser283Ala)
c.1105T>G (p.Ser369Ala)
c.994-3421T>G (n.994-3421T>G)
c.782+4516T>G (n.782+4516T>G)
c.*233T>G (n.*233T>G)
c.*145T>G (n.*145T>G)
c.79T>G
c.1009T>G (p.Ser337Ala)
c.1093T>G (p.Ser365Ala)
c.649T>G (p.Ser217Ala)
c.983+944T>G (n.983+944T>G)
COSMIC
17g.7669665A>GCA397830655TP53c.1126T>C (p.Ser376Pro)
c.730T>C (p.Ser244Pro)
c.847T>C (p.Ser283Pro)
c.1105T>C (p.Ser369Pro)
c.994-3421T>C (n.994-3421T>C)
c.782+4516T>C (n.782+4516T>C)
c.*233T>C (n.*233T>C)
c.*145T>C (n.*145T>C)
c.79T>C
c.1009T>C (p.Ser337Pro)
c.1093T>C (p.Ser365Pro)
c.649T>C (p.Ser217Pro)
c.983+944T>C (n.983+944T>C)
dbSNP
17g.7669665A>TCA397830654TP53c.1126T>A (p.Ser376Thr)
c.730T>A (p.Ser244Thr)
c.847T>A (p.Ser283Thr)
c.1105T>A (p.Ser369Thr)
c.994-3421T>A (n.994-3421T>A)
c.782+4516T>A (n.782+4516T>A)
c.*233T>A (n.*233T>A)
c.*145T>A (n.*145T>A)
c.79T>A
c.1009T>A (p.Ser337Thr)
c.1093T>A (p.Ser365Thr)
c.649T>A (p.Ser217Thr)
c.983+944T>A (n.983+944T>A)
COSMIC
17g.7669665dupCA645587287TP53c.1126dup (p.Ser376PhefsTer6)
c.730dup (p.Ser244PhefsTer6)
c.847dup (p.Ser283PhefsTer6)
c.1105dup (p.Ser369PhefsTer6)
c.994-3421dup (n.994-3421dup)
c.782+4516dup (n.782+4516dup)
c.*233dup (n.*233dup)
c.*145dup (n.*145dup)
c.79dup
c.1009dup (p.Ser337PhefsTer6)
c.1093dup (p.Ser365PhefsTer6)
c.649dup (p.Ser217PhefsTer6)
c.983+944dup (n.983+944dup)
COSMIC COSMIC
17g.7669665_7669666delinsACCA2245940896TP53c.1125_1126delinsGT (p.Gln375=)
c.729_730delinsGT (p.Gln243=)
c.846_847delinsGT (p.Gln282=)
c.1104_1105delinsGT (p.Gln368=)
c.994-3422_994-3421delinsGT (n.994-3422_994-3421delinsGT)
c.782+4515_782+4516delinsGT (n.782+4515_782+4516delinsGT)
c.*232_*233delinsGT (n.*232_*233delinsGT)
c.*144_*145delinsGT (n.*144_*145delinsGT)
c.78_79delinsGT
c.1008_1009delinsGT (p.Gln336=)
c.1092_1093delinsGT (p.Gln364=)
c.648_649delinsGT (p.Gln216=)
c.983+943_983+944delinsGT (n.983+943_983+944delinsGT)
17g.7669666delCA000041TP53c.1125del (p.Gln375HisfsTer?)
c.729del (p.Gln243HisfsTer?)
c.846del (p.Gln282HisfsTer?)
c.1104del (p.Gln368HisfsTer?)
c.994-3422del (n.994-3422del)
c.782+4515del (n.782+4515del)
c.*232del (n.*232del)
c.*144del (n.*144del)
c.78del
c.1008del (p.Gln336HisfsTer?)
c.1092del (p.Gln364HisfsTer?)
c.648del (p.Gln216HisfsTer?)
c.983+943del (n.983+943del)
ClinVar dbSNP
17g.7669666C>ACA397830656TP53c.1125G>T (p.Gln375His)
c.729G>T (p.Gln243His)
c.846G>T (p.Gln282His)
c.1104G>T (p.Gln368His)
c.994-3422G>T (n.994-3422G>T)
c.782+4515G>T (n.782+4515G>T)
c.*232G>T (n.*232G>T)
c.*144G>T (n.*144G>T)
c.78G>T
c.1008G>T (p.Gln336His)
c.1092G>T (p.Gln364His)
c.648G>T (p.Gln216His)
c.983+943G>T (n.983+943G>T)
ClinVar dbSNP gnomAD v4
17g.7669666C=CA2245940916TP53c.1125G= (p.Gln375=)
c.729G= (p.Gln243=)
c.846G= (p.Gln282=)
c.1104G= (p.Gln368=)
c.994-3422G= (n.994-3422G=)
c.782+4515G= (n.782+4515G=)
c.*232G= (n.*232G=)
c.*144G= (n.*144G=)
c.78G=
c.1008G= (p.Gln336=)
c.1092G= (p.Gln364=)
c.648G= (p.Gln216=)
c.983+943G= (n.983+943G=)
17g.7669666C>GCA397830664TP53c.1125G>C (p.Gln375His)
c.729G>C (p.Gln243His)
c.846G>C (p.Gln282His)
c.1104G>C (p.Gln368His)
c.994-3422G>C (n.994-3422G>C)
c.782+4515G>C (n.782+4515G>C)
c.*232G>C (n.*232G>C)
c.*144G>C (n.*144G>C)
c.78G>C
c.1008G>C (p.Gln336His)
c.1092G>C (p.Gln364His)
c.648G>C (p.Gln216His)
c.983+943G>C (n.983+943G>C)
dbSNP
17g.7669666C>TCA000675TP53c.1125G>A (p.Gln375=)
c.729G>A (p.Gln243=)
c.846G>A (p.Gln282=)
c.1104G>A (p.Gln368=)
c.994-3422G>A (n.994-3422G>A)
c.782+4515G>A (n.782+4515G>A)
c.*232G>A (n.*232G>A)
c.*144G>A (n.*144G>A)
c.78G>A
c.1008G>A (p.Gln336=)
c.1092G>A (p.Gln364=)
c.648G>A (p.Gln216=)
c.983+943G>A (n.983+943G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.7669667T>ACA397830665TP53c.1124A>T (p.Gln375Leu)
c.728A>T (p.Gln243Leu)
c.845A>T (p.Gln282Leu)
c.1103A>T (p.Gln368Leu)
c.994-3423A>T (n.994-3423A>T)
c.782+4514A>T (n.782+4514A>T)
c.*231A>T (n.*231A>T)
c.*143A>T (n.*143A>T)
c.77A>T
c.1007A>T (p.Gln336Leu)
c.1091A>T (p.Gln364Leu)
c.647A>T (p.Gln216Leu)
c.983+942A>T (n.983+942A>T)
17g.7669667T>CCA397830666TP53c.1124A>G (p.Gln375Arg)
c.728A>G (p.Gln243Arg)
c.845A>G (p.Gln282Arg)
c.1103A>G (p.Gln368Arg)
c.994-3423A>G (n.994-3423A>G)
c.782+4514A>G (n.782+4514A>G)
c.*231A>G (n.*231A>G)
c.*143A>G (n.*143A>G)
c.77A>G
c.1007A>G (p.Gln336Arg)
c.1091A>G (p.Gln364Arg)
c.647A>G (p.Gln216Arg)
c.983+942A>G (n.983+942A>G)
dbSNP
17g.7669667T>GCA397830668TP53c.1124A>C (p.Gln375Pro)
c.728A>C (p.Gln243Pro)
c.845A>C (p.Gln282Pro)
c.1103A>C (p.Gln368Pro)
c.994-3423A>C (n.994-3423A>C)
c.782+4514A>C (n.782+4514A>C)
c.*231A>C (n.*231A>C)
c.*143A>C (n.*143A>C)
c.77A>C
c.1007A>C (p.Gln336Pro)
c.1091A>C (p.Gln364Pro)
c.647A>C (p.Gln216Pro)
c.983+942A>C (n.983+942A>C)
17g.7669668G>ACA397830670TP53c.1123C>T (p.Gln375Ter)
c.727C>T (p.Gln243Ter)
c.844C>T (p.Gln282Ter)
c.1102C>T (p.Gln368Ter)
c.994-3424C>T (n.994-3424C>T)
c.782+4513C>T (n.782+4513C>T)
c.*230C>T (n.*230C>T)
c.*142C>T (n.*142C>T)
c.76C>T
c.1006C>T (p.Gln336Ter)
c.1090C>T (p.Gln364Ter)
c.646C>T (p.Gln216Ter)
c.983+941C>T (n.983+941C>T)
ClinVar dbSNP COSMIC COSMIC
17g.7669668G>CCA397830674TP53c.1123C>G (p.Gln375Glu)
c.727C>G (p.Gln243Glu)
c.844C>G (p.Gln282Glu)
c.1102C>G (p.Gln368Glu)
c.994-3424C>G (n.994-3424C>G)
c.782+4513C>G (n.782+4513C>G)
c.*230C>G (n.*230C>G)
c.*142C>G (n.*142C>G)
c.76C>G
c.1006C>G (p.Gln336Glu)
c.1090C>G (p.Gln364Glu)
c.646C>G (p.Gln216Glu)
c.983+941C>G (n.983+941C>G)
dbSNP
17g.7669668G=CA2245940929TP53c.1123C= (p.Gln375=)
c.727C= (p.Gln243=)
c.844C= (p.Gln282=)
c.1102C= (p.Gln368=)
c.994-3424C= (n.994-3424C=)
c.782+4513C= (n.782+4513C=)
c.*230C= (n.*230C=)
c.*142C= (n.*142C=)
c.76C=
c.1006C= (p.Gln336=)
c.1090C= (p.Gln364=)
c.646C= (p.Gln216=)
c.983+941C= (n.983+941C=)
17g.7669668G>TCA397830678TP53c.1123C>A (p.Gln375Lys)
c.727C>A (p.Gln243Lys)
c.844C>A (p.Gln282Lys)
c.1102C>A (p.Gln368Lys)
c.994-3424C>A (n.994-3424C>A)
c.782+4513C>A (n.782+4513C>A)
c.*230C>A (n.*230C>A)
c.*142C>A (n.*142C>A)
c.76C>A
c.1006C>A (p.Gln336Lys)
c.1090C>A (p.Gln364Lys)
c.646C>A (p.Gln216Lys)
c.983+941C>A (n.983+941C>A)
ClinVar dbSNP COSMIC COSMIC
17g.7669668_7669669insCCA645587288TP53c.1122_1123insG (p.Gln375AlafsTer7)
c.726_727insG (p.Gln243AlafsTer7)
c.843_844insG (p.Gln282AlafsTer7)
c.1101_1102insG (p.Gln368AlafsTer7)
c.994-3425_994-3424insG (n.994-3425_994-3424insG)
c.782+4512_782+4513insG (n.782+4512_782+4513insG)
c.*229_*230insG (n.*229_*230insG)
c.*141_*142insG (n.*141_*142insG)
c.75_76insG
c.1005_1006insG (p.Gln336AlafsTer7)
c.1089_1090insG (p.Gln364AlafsTer7)
c.645_646insG (p.Gln216AlafsTer7)
c.983+940_983+941insG (n.983+940_983+941insG)
COSMIC COSMIC
17g.7669669A>CCA497711506TP53c.1122T>G (p.Gly374=)
c.726T>G (p.Gly242=)
c.843T>G (p.Gly281=)
c.1101T>G (p.Gly367=)
c.994-3425T>G (n.994-3425T>G)
c.782+4512T>G (n.782+4512T>G)
c.*229T>G (n.*229T>G)
c.*141T>G (n.*141T>G)
c.75T>G
c.1005T>G (p.Gly335=)
c.1089T>G (p.Gly363=)
c.645T>G (p.Gly215=)
c.983+940T>G (n.983+940T>G)
17g.7669669A>GCA497711508TP53c.1122T>C (p.Gly374=)
c.726T>C (p.Gly242=)
c.843T>C (p.Gly281=)
c.1101T>C (p.Gly367=)
c.994-3425T>C (n.994-3425T>C)
c.782+4512T>C (n.782+4512T>C)
c.*229T>C (n.*229T>C)
c.*141T>C (n.*141T>C)
c.75T>C
c.1005T>C (p.Gly335=)
c.1089T>C (p.Gly363=)
c.645T>C (p.Gly215=)
c.983+940T>C (n.983+940T>C)
17g.7669669A>TCA497711510TP53c.1122T>A (p.Gly374=)
c.726T>A (p.Gly242=)
c.843T>A (p.Gly281=)
c.1101T>A (p.Gly367=)
c.994-3425T>A (n.994-3425T>A)
c.782+4512T>A (n.782+4512T>A)
c.*229T>A (n.*229T>A)
c.*141T>A (n.*141T>A)
c.75T>A
c.1005T>A (p.Gly335=)
c.1089T>A (p.Gly363=)
c.645T>A (p.Gly215=)
c.983+940T>A (n.983+940T>A)
17g.7669669_7669670delinsACCA2245940939TP53c.1121_1122delinsGT (p.Gly374=)
c.725_726delinsGT (p.Gly242=)
c.842_843delinsGT (p.Gly281=)
c.1100_1101delinsGT (p.Gly367=)
c.994-3426_994-3425delinsGT (n.994-3426_994-3425delinsGT)
c.782+4511_782+4512delinsGT (n.782+4511_782+4512delinsGT)
c.*228_*229delinsGT (n.*228_*229delinsGT)
c.*140_*141delinsGT (n.*140_*141delinsGT)
c.74_75delinsGT
c.1004_1005delinsGT (p.Gly335=)
c.1088_1089delinsGT (p.Gly363=)
c.644_645delinsGT (p.Gly215=)
c.983+939_983+940delinsGT (n.983+939_983+940delinsGT)
17g.7669669_7669670insGCA497711521TP53c.1121_1122insC (p.Gln375SerfsTer7)
c.725_726insC (p.Gln243SerfsTer7)
c.842_843insC (p.Gln282SerfsTer7)
c.1100_1101insC (p.Gln368SerfsTer7)
c.994-3426_994-3425insC (n.994-3426_994-3425insC)
c.782+4511_782+4512insC (n.782+4511_782+4512insC)
c.*228_*229insC (n.*228_*229insC)
c.*140_*141insC (n.*140_*141insC)
c.74_75insC
c.1004_1005insC (p.Gln336SerfsTer7)
c.1088_1089insC (p.Gln364SerfsTer7)
c.644_645insC (p.Gln216SerfsTer7)
c.983+939_983+940insC (n.983+939_983+940insC)
17g.7669670C>ACA397830698TP53c.1121G>T (p.Gly374Val)
c.725G>T (p.Gly242Val)
c.842G>T (p.Gly281Val)
c.1100G>T (p.Gly367Val)
c.994-3426G>T (n.994-3426G>T)
c.782+4511G>T (n.782+4511G>T)
c.*228G>T (n.*228G>T)
c.*140G>T (n.*140G>T)
c.74G>T
c.1004G>T (p.Gly335Val)
c.1088G>T (p.Gly363Val)
c.644G>T (p.Gly215Val)
c.983+939G>T (n.983+939G>T)
ClinVar
17g.7669670C>GCA397830706TP53c.1121G>C (p.Gly374Ala)
c.725G>C (p.Gly242Ala)
c.842G>C (p.Gly281Ala)
c.1100G>C (p.Gly367Ala)
c.994-3426G>C (n.994-3426G>C)
c.782+4511G>C (n.782+4511G>C)
c.*228G>C (n.*228G>C)
c.*140G>C (n.*140G>C)
c.74G>C
c.1004G>C (p.Gly335Ala)
c.1088G>C (p.Gly363Ala)
c.644G>C (p.Gly215Ala)
c.983+939G>C (n.983+939G>C)
17g.7669670C>TCA397830708TP53c.1121G>A (p.Gly374Asp)
c.725G>A (p.Gly242Asp)
c.842G>A (p.Gly281Asp)
c.1100G>A (p.Gly367Asp)
c.994-3426G>A (n.994-3426G>A)
c.782+4511G>A (n.782+4511G>A)
c.*228G>A (n.*228G>A)
c.*140G>A (n.*140G>A)
c.74G>A
c.1004G>A (p.Gly335Asp)
c.1088G>A (p.Gly363Asp)
c.644G>A (p.Gly215Asp)
c.983+939G>A (n.983+939G>A)
ClinVar
17g.7669672delCA10583672TP53c.1121del (p.Gly374ValfsTer?)
c.725del (p.Gly242ValfsTer?)
c.842del (p.Gly281ValfsTer?)
c.1100del (p.Gly367ValfsTer?)
c.994-3426del (n.994-3426del)
c.782+4511del (n.782+4511del)
c.*228del (n.*228del)
c.*140del (n.*140del)
c.74del
c.1004del (p.Gly335ValfsTer?)
c.1088del (p.Gly363ValfsTer?)
c.644del (p.Gly215ValfsTer?)
c.983+939del (n.983+939del)
ClinVar dbSNP
17g.7669671C>ACA000676TP53c.1120G>T (p.Gly374Cys)
c.724G>T (p.Gly242Cys)
c.841G>T (p.Gly281Cys)
c.1099G>T (p.Gly367Cys)
c.994-3427G>T (n.994-3427G>T)
c.782+4510G>T (n.782+4510G>T)
c.*227G>T (n.*227G>T)
c.*139G>T (n.*139G>T)
c.73G>T
c.1003G>T (p.Gly335Cys)
c.1087G>T (p.Gly363Cys)
c.643G>T (p.Gly215Cys)
c.983+938G>T (n.983+938G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.7669671C=CA2245940945TP53c.1120G= (p.Gly374=)
c.724G= (p.Gly242=)
c.841G= (p.Gly281=)
c.1099G= (p.Gly367=)
c.994-3427G= (n.994-3427G=)
c.782+4510G= (n.782+4510G=)
c.*227G= (n.*227G=)
c.*139G= (n.*139G=)
c.73G=
c.1003G= (p.Gly335=)
c.1087G= (p.Gly363=)
c.643G= (p.Gly215=)
c.983+938G= (n.983+938G=)
17g.7669671C>GCA000677TP53c.1120G>C (p.Gly374Arg)
c.724G>C (p.Gly242Arg)
c.841G>C (p.Gly281Arg)
c.1099G>C (p.Gly367Arg)
c.994-3427G>C (n.994-3427G>C)
c.782+4510G>C (n.782+4510G>C)
c.*227G>C (n.*227G>C)
c.*139G>C (n.*139G>C)
c.73G>C
c.1003G>C (p.Gly335Arg)
c.1087G>C (p.Gly363Arg)
c.643G>C (p.Gly215Arg)
c.983+938G>C (n.983+938G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.7669671C>TCA000040TP53c.1120G>A (p.Gly374Ser)
c.724G>A (p.Gly242Ser)
c.841G>A (p.Gly281Ser)
c.1099G>A (p.Gly367Ser)
c.994-3427G>A (n.994-3427G>A)
c.782+4510G>A (n.782+4510G>A)
c.*227G>A (n.*227G>A)
c.*139G>A (n.*139G>A)
c.73G>A
c.1003G>A (p.Gly335Ser)
c.1087G>A (p.Gly363Ser)
c.643G>A (p.Gly215Ser)
c.983+938G>A (n.983+938G>A)
ClinVar dbSNP
17g.7669672C>ACA397830719TP53c.1119G>T (p.Lys373Asn)
c.723G>T (p.Lys241Asn)
c.840G>T (p.Lys280Asn)
c.1098G>T (p.Lys366Asn)
c.994-3428G>T (n.994-3428G>T)
c.782+4509G>T (n.782+4509G>T)
c.*226G>T (n.*226G>T)
c.*138G>T (n.*138G>T)
c.72G>T
c.1002G>T (p.Lys334Asn)
c.1086G>T (p.Lys362Asn)
c.642G>T (p.Lys214Asn)
c.983+937G>T (n.983+937G>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.7669672C=CA2245940965TP53c.1119G= (p.Lys373=)
c.723G= (p.Lys241=)
c.840G= (p.Lys280=)
c.1098G= (p.Lys366=)
c.994-3428G= (n.994-3428G=)
c.782+4509G= (n.782+4509G=)
c.*226G= (n.*226G=)
c.*138G= (n.*138G=)
c.72G=
c.1002G= (p.Lys334=)
c.1086G= (p.Lys362=)
c.642G= (p.Lys214=)
c.983+937G= (n.983+937G=)
17g.7669672C>GCA397830720TP53c.1119G>C (p.Lys373Asn)
c.723G>C (p.Lys241Asn)
c.840G>C (p.Lys280Asn)
c.1098G>C (p.Lys366Asn)
c.994-3428G>C (n.994-3428G>C)
c.782+4509G>C (n.782+4509G>C)
c.*226G>C (n.*226G>C)
c.*138G>C (n.*138G>C)
c.72G>C
c.1002G>C (p.Lys334Asn)
c.1086G>C (p.Lys362Asn)
c.642G>C (p.Lys214Asn)
c.983+937G>C (n.983+937G>C)
17g.7669672C>TCA497711533TP53c.1119G>A (p.Lys373=)
c.723G>A (p.Lys241=)
c.840G>A (p.Lys280=)
c.1098G>A (p.Lys366=)
c.994-3428G>A (n.994-3428G>A)
c.782+4509G>A (n.782+4509G>A)
c.*226G>A (n.*226G>A)
c.*138G>A (n.*138G>A)
c.72G>A
c.1002G>A (p.Lys334=)
c.1086G>A (p.Lys362=)
c.642G>A (p.Lys214=)
c.983+937G>A (n.983+937G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.7669673T>ACA397830722TP53c.1118A>T (p.Lys373Met)
c.722A>T (p.Lys241Met)
c.839A>T (p.Lys280Met)
c.1097A>T (p.Lys366Met)
c.994-3429A>T (n.994-3429A>T)
c.782+4508A>T (n.782+4508A>T)
c.*225A>T (n.*225A>T)
c.*137A>T (n.*137A>T)
c.71A>T
c.1001A>T (p.Lys334Met)
c.1085A>T (p.Lys362Met)
c.641A>T (p.Lys214Met)
c.983+936A>T (n.983+936A>T)
ClinVar dbSNP
17g.7669673T>CCA397830723TP53c.1118A>G (p.Lys373Arg)
c.722A>G (p.Lys241Arg)
c.839A>G (p.Lys280Arg)
c.1097A>G (p.Lys366Arg)
c.994-3429A>G (n.994-3429A>G)
c.782+4508A>G (n.782+4508A>G)
c.*225A>G (n.*225A>G)
c.*137A>G (n.*137A>G)
c.71A>G
c.1001A>G (p.Lys334Arg)
c.1085A>G (p.Lys362Arg)
c.641A>G (p.Lys214Arg)
c.983+936A>G (n.983+936A>G)
ClinVar dbSNP COSMIC
17g.7669673T>GCA397830724TP53c.1118A>C (p.Lys373Thr)
c.722A>C (p.Lys241Thr)
c.839A>C (p.Lys280Thr)
c.1097A>C (p.Lys366Thr)
c.994-3429A>C (n.994-3429A>C)
c.782+4508A>C (n.782+4508A>C)
c.*225A>C (n.*225A>C)
c.*137A>C (n.*137A>C)
c.71A>C
c.1001A>C (p.Lys334Thr)
c.1085A>C (p.Lys362Thr)
c.641A>C (p.Lys214Thr)
c.983+936A>C (n.983+936A>C)
dbSNP
17g.7669673T=CA2245940976TP53c.1118A= (p.Lys373=)
c.722A= (p.Lys241=)
c.839A= (p.Lys280=)
c.1097A= (p.Lys366=)
c.994-3429A= (n.994-3429A=)
c.782+4508A= (n.782+4508A=)
c.*225A= (n.*225A=)
c.*137A= (n.*137A=)
c.71A=
c.1001A= (p.Lys334=)
c.1085A= (p.Lys362=)
c.641A= (p.Lys214=)
c.983+936A= (n.983+936A=)
17g.7669677delCA891842218TP53c.1118del (p.Lys373ArgfsTer?)
c.722del (p.Lys241ArgfsTer?)
c.839del (p.Lys280ArgfsTer?)
c.1097del (p.Lys366ArgfsTer?)
c.994-3429del (n.994-3429del)
c.782+4508del (n.782+4508del)
c.*225del (n.*225del)
c.*137del (n.*137del)
c.71del
c.1001del (p.Lys334ArgfsTer?)
c.1085del (p.Lys362ArgfsTer?)
c.641del (p.Lys214ArgfsTer?)
c.983+936del (n.983+936del)
ClinVar dbSNP gnomAD v4
17g.7669674T>ACA397830727TP53c.1117A>T (p.Lys373Ter)
c.721A>T (p.Lys241Ter)
c.838A>T (p.Lys280Ter)
c.1096A>T (p.Lys366Ter)
c.994-3430A>T (n.994-3430A>T)
c.782+4507A>T (n.782+4507A>T)
c.*224A>T (n.*224A>T)
c.*136A>T (n.*136A>T)
c.70A>T
c.1000A>T (p.Lys334Ter)
c.1084A>T (p.Lys362Ter)
c.640A>T (p.Lys214Ter)
c.983+935A>T (n.983+935A>T)
17g.7669674T>CCA397830729TP53c.1117A>G (p.Lys373Glu)
c.721A>G (p.Lys241Glu)
c.838A>G (p.Lys280Glu)
c.1096A>G (p.Lys366Glu)
c.994-3430A>G (n.994-3430A>G)
c.782+4507A>G (n.782+4507A>G)
c.*224A>G (n.*224A>G)
c.*136A>G (n.*136A>G)
c.70A>G
c.1000A>G (p.Lys334Glu)
c.1084A>G (p.Lys362Glu)
c.640A>G (p.Lys214Glu)
c.983+935A>G (n.983+935A>G)
17g.7669674T>GCA397830737TP53c.1117A>C (p.Lys373Gln)
c.721A>C (p.Lys241Gln)
c.838A>C (p.Lys280Gln)
c.1096A>C (p.Lys366Gln)
c.994-3430A>C (n.994-3430A>C)
c.782+4507A>C (n.782+4507A>C)
c.*224A>C (n.*224A>C)
c.*136A>C (n.*136A>C)
c.70A>C
c.1000A>C (p.Lys334Gln)
c.1084A>C (p.Lys362Gln)
c.640A>C (p.Lys214Gln)
c.983+935A>C (n.983+935A>C)
17g.7669675T>ACA397830749TP53c.1116A>T (p.Lys372Asn)
c.720A>T (p.Lys240Asn)
c.837A>T (p.Lys279Asn)
c.1095A>T (p.Lys365Asn)
c.994-3431A>T (n.994-3431A>T)
c.782+4506A>T (n.782+4506A>T)
c.*223A>T (n.*223A>T)
c.*135A>T (n.*135A>T)
c.69A>T
c.999A>T (p.Lys333Asn)
c.1083A>T (p.Lys361Asn)
c.639A>T (p.Lys213Asn)
c.983+934A>T (n.983+934A>T)
17g.7669675T>CCA497711546TP53c.1116A>G (p.Lys372=)
c.720A>G (p.Lys240=)
c.837A>G (p.Lys279=)
c.1095A>G (p.Lys365=)
c.994-3431A>G (n.994-3431A>G)
c.782+4506A>G (n.782+4506A>G)
c.*223A>G (n.*223A>G)
c.*135A>G (n.*135A>G)
c.69A>G
c.999A>G (p.Lys333=)
c.1083A>G (p.Lys361=)
c.639A>G (p.Lys213=)
c.983+934A>G (n.983+934A>G)
17g.7669675T>GCA397830757TP53c.1116A>C (p.Lys372Asn)
c.720A>C (p.Lys240Asn)
c.837A>C (p.Lys279Asn)
c.1095A>C (p.Lys365Asn)
c.994-3431A>C (n.994-3431A>C)
c.782+4506A>C (n.782+4506A>C)
c.*223A>C (n.*223A>C)
c.*135A>C (n.*135A>C)
c.69A>C
c.999A>C (p.Lys333Asn)
c.1083A>C (p.Lys361Asn)
c.639A>C (p.Lys213Asn)
c.983+934A>C (n.983+934A>C)
17g.7669676T>ACA397830766TP53c.1115A>T (p.Lys372Ile)
c.719A>T (p.Lys240Ile)
c.836A>T (p.Lys279Ile)
c.1094A>T (p.Lys365Ile)
c.994-3432A>T (n.994-3432A>T)
c.782+4505A>T (n.782+4505A>T)
c.*222A>T (n.*222A>T)
c.*134A>T (n.*134A>T)
c.68A>T
c.998A>T (p.Lys333Ile)
c.1082A>T (p.Lys361Ile)
c.638A>T (p.Lys213Ile)
c.983+933A>T (n.983+933A>T)
17g.7669676T>CCA10580901TP53c.1115A>G (p.Lys372Arg)
c.719A>G (p.Lys240Arg)
c.836A>G (p.Lys279Arg)
c.1094A>G (p.Lys365Arg)
c.994-3432A>G (n.994-3432A>G)
c.782+4505A>G (n.782+4505A>G)
c.*222A>G (n.*222A>G)
c.*134A>G (n.*134A>G)
c.68A>G
c.998A>G (p.Lys333Arg)
c.1082A>G (p.Lys361Arg)
c.638A>G (p.Lys213Arg)
c.983+933A>G (n.983+933A>G)
ClinVar dbSNP
17g.7669676T>GCA397830764TP53c.1115A>C (p.Lys372Thr)
c.719A>C (p.Lys240Thr)
c.836A>C (p.Lys279Thr)
c.1094A>C (p.Lys365Thr)
c.994-3432A>C (n.994-3432A>C)
c.782+4505A>C (n.782+4505A>C)
c.*222A>C (n.*222A>C)
c.*134A>C (n.*134A>C)
c.68A>C
c.998A>C (p.Lys333Thr)
c.1082A>C (p.Lys361Thr)
c.638A>C (p.Lys213Thr)
c.983+933A>C (n.983+933A>C)
ClinVar dbSNP
17g.7669676T=CA2245940983TP53c.1115A= (p.Lys372=)
c.719A= (p.Lys240=)
c.836A= (p.Lys279=)
c.1094A= (p.Lys365=)
c.994-3432A= (n.994-3432A=)
c.782+4505A= (n.782+4505A=)
c.*222A= (n.*222A=)
c.*134A= (n.*134A=)
c.68A=
c.998A= (p.Lys333=)
c.1082A= (p.Lys361=)
c.638A= (p.Lys213=)
c.983+933A= (n.983+933A=)
17g.7669677T>ACA397830774TP53c.1114A>T (p.Lys372Ter)
c.718A>T (p.Lys240Ter)
c.835A>T (p.Lys279Ter)
c.1093A>T (p.Lys365Ter)
c.994-3433A>T (n.994-3433A>T)
c.782+4504A>T (n.782+4504A>T)
c.*221A>T (n.*221A>T)
c.*133A>T (n.*133A>T)
c.67A>T
c.997A>T (p.Lys333Ter)
c.1081A>T (p.Lys361Ter)
c.637A>T (p.Lys213Ter)
c.983+932A>T (n.983+932A>T)
COSMIC COSMIC
17g.7669677T>CCA397830778TP53c.1114A>G (p.Lys372Glu)
c.718A>G (p.Lys240Glu)
c.835A>G (p.Lys279Glu)
c.1093A>G (p.Lys365Glu)
c.994-3433A>G (n.994-3433A>G)
c.782+4504A>G (n.782+4504A>G)
c.*221A>G (n.*221A>G)
c.*133A>G (n.*133A>G)
c.67A>G
c.997A>G (p.Lys333Glu)
c.1081A>G (p.Lys361Glu)
c.637A>G (p.Lys213Glu)
c.983+932A>G (n.983+932A>G)
17g.7669677T>GCA397830780TP53c.1114A>C (p.Lys372Gln)
c.718A>C (p.Lys240Gln)
c.835A>C (p.Lys279Gln)
c.1093A>C (p.Lys365Gln)
c.994-3433A>C (n.994-3433A>C)
c.782+4504A>C (n.782+4504A>C)
c.*221A>C (n.*221A>C)
c.*133A>C (n.*133A>C)
c.67A>C
c.997A>C (p.Lys333Gln)
c.1081A>C (p.Lys361Gln)
c.637A>C (p.Lys213Gln)
c.983+932A>C (n.983+932A>C)
dbSNP
17g.7669677_7669702delCA2695195478TP53c.1101-12_1114del
c.705-12_718del
c.822-12_835del
c.1080-12_1093del
c.994-3458_994-3433del (n.994-3458_994-3433del)
c.782+4479_782+4504del (n.782+4479_782+4504del)
c.*208-12_*221del
c.*120-12_*133del
c.54-12_67del
c.984-12_997del
c.1068-12_1081del
c.624-12_637del
c.983+907_983+932del (n.983+907_983+932del)
17g.7669678G>ACA497711561TP53c.1113C>T (p.Ser371=)
c.717C>T (p.Ser239=)
c.834C>T (p.Ser278=)
c.1092C>T (p.Ser364=)
c.994-3434C>T (n.994-3434C>T)
c.782+4503C>T (n.782+4503C>T)
c.*220C>T (n.*220C>T)
c.*132C>T (n.*132C>T)
c.66C>T
c.996C>T (p.Ser332=)
c.1080C>T (p.Ser360=)
c.636C>T (p.Ser212=)
c.983+931C>T (n.983+931C>T)
ClinVar dbSNP
17g.7669678G>CCA497711563TP53c.1113C>G (p.Ser371=)
c.717C>G (p.Ser239=)
c.834C>G (p.Ser278=)
c.1092C>G (p.Ser364=)
c.994-3434C>G (n.994-3434C>G)
c.782+4503C>G (n.782+4503C>G)
c.*220C>G (n.*220C>G)
c.*132C>G (n.*132C>G)
c.66C>G
c.996C>G (p.Ser332=)
c.1080C>G (p.Ser360=)
c.636C>G (p.Ser212=)
c.983+931C>G (n.983+931C>G)
17g.7669678G=CA2245940993TP53c.1113C= (p.Ser371=)
c.717C= (p.Ser239=)
c.834C= (p.Ser278=)
c.1092C= (p.Ser364=)
c.994-3434C= (n.994-3434C=)
c.782+4503C= (n.782+4503C=)
c.*220C= (n.*220C=)
c.*132C= (n.*132C=)
c.66C=
c.996C= (p.Ser332=)
c.1080C= (p.Ser360=)
c.636C= (p.Ser212=)
c.983+931C= (n.983+931C=)
17g.7669678G>TCA000684TP53c.1113C>A (p.Ser371=)
c.717C>A (p.Ser239=)
c.834C>A (p.Ser278=)
c.1092C>A (p.Ser364=)
c.994-3434C>A (n.994-3434C>A)
c.782+4503C>A (n.782+4503C>A)
c.*220C>A (n.*220C>A)
c.*132C>A (n.*132C>A)
c.66C>A
c.996C>A (p.Ser332=)
c.1080C>A (p.Ser360=)
c.636C>A (p.Ser212=)
c.983+931C>A (n.983+931C>A)
dbSNP ExAC gnomAD v2
17g.7669679delCA2499224946TP53c.1113del (p.Lys373ArgfsTer?)
c.717del (p.Lys241ArgfsTer?)
c.834del (p.Lys280ArgfsTer?)
c.1092del (p.Lys366ArgfsTer?)
c.994-3434del (n.994-3434del)
c.782+4503del (n.782+4503del)
c.*220del (n.*220del)
c.*132del (n.*132del)
c.66del
c.996del (p.Lys334ArgfsTer?)
c.1080del (p.Lys362ArgfsTer?)
c.636del (p.Lys214ArgfsTer?)
c.983+931del (n.983+931del)
ClinVar dbSNP
17g.7669679G>ACA397830791TP53c.1112C>T (p.Ser371Phe)
c.716C>T (p.Ser239Phe)
c.833C>T (p.Ser278Phe)
c.1091C>T (p.Ser364Phe)
c.994-3435C>T (n.994-3435C>T)
c.782+4502C>T (n.782+4502C>T)
c.*219C>T (n.*219C>T)
c.*131C>T (n.*131C>T)
c.65C>T
c.995C>T (p.Ser332Phe)
c.1079C>T (p.Ser360Phe)
c.635C>T (p.Ser212Phe)
c.983+930C>T (n.983+930C>T)
dbSNP gnomAD v4
17g.7669679G>CCA397830794TP53c.1112C>G (p.Ser371Cys)
c.716C>G (p.Ser239Cys)
c.833C>G (p.Ser278Cys)
c.1091C>G (p.Ser364Cys)
c.994-3435C>G (n.994-3435C>G)
c.782+4502C>G (n.782+4502C>G)
c.*219C>G (n.*219C>G)
c.*131C>G (n.*131C>G)
c.65C>G
c.995C>G (p.Ser332Cys)
c.1079C>G (p.Ser360Cys)
c.635C>G (p.Ser212Cys)
c.983+930C>G (n.983+930C>G)
dbSNP
17g.7669679G>TCA397830797TP53c.1112C>A (p.Ser371Tyr)
c.716C>A (p.Ser239Tyr)
c.833C>A (p.Ser278Tyr)
c.1091C>A (p.Ser364Tyr)
c.994-3435C>A (n.994-3435C>A)
c.782+4502C>A (n.782+4502C>A)
c.*219C>A (n.*219C>A)
c.*131C>A (n.*131C>A)
c.65C>A
c.995C>A (p.Ser332Tyr)
c.1079C>A (p.Ser360Tyr)
c.635C>A (p.Ser212Tyr)
c.983+930C>A (n.983+930C>A)
ClinVar dbSNP
17g.7669679_7669689delinsTCA2740099750TP53c.1102_1112delinsA (p.His368ThrfsTer?)
c.706_716delinsA (p.His236ThrfsTer?)
c.823_833delinsA (p.His275ThrfsTer?)
c.1081_1091delinsA (p.His361ThrfsTer?)
c.994-3445_994-3435delinsA (n.994-3445_994-3435delinsA)
c.782+4492_782+4502delinsA (n.782+4492_782+4502delinsA)
c.*209_*219delinsA (n.*209_*219delinsA)
c.*121_*131delinsA (n.*121_*131delinsA)
c.55_65delinsA
c.985_995delinsA (p.His329ThrfsTer?)
c.1069_1079delinsA (p.His357ThrfsTer?)
c.625_635delinsA (p.His209ThrfsTer?)
c.983+920_983+930delinsA (n.983+920_983+930delinsA)
17g.7669680A>CCA397830801TP53c.1111T>G (p.Ser371Ala)
c.715T>G (p.Ser239Ala)
c.832T>G (p.Ser278Ala)
c.1090T>G (p.Ser364Ala)
c.994-3436T>G (n.994-3436T>G)
c.782+4501T>G (n.782+4501T>G)
c.*218T>G (n.*218T>G)
c.*130T>G (n.*130T>G)
c.64T>G
c.994T>G (p.Ser332Ala)
c.1078T>G (p.Ser360Ala)
c.634T>G (p.Ser212Ala)
c.983+929T>G (n.983+929T>G)
17g.7669680A>GCA397830802TP53c.1111T>C (p.Ser371Pro)
c.715T>C (p.Ser239Pro)
c.832T>C (p.Ser278Pro)
c.1090T>C (p.Ser364Pro)
c.994-3436T>C (n.994-3436T>C)
c.782+4501T>C (n.782+4501T>C)
c.*218T>C (n.*218T>C)
c.*130T>C (n.*130T>C)
c.64T>C
c.994T>C (p.Ser332Pro)
c.1078T>C (p.Ser360Pro)
c.634T>C (p.Ser212Pro)
c.983+929T>C (n.983+929T>C)
17g.7669680A>TCA397830803TP53c.1111T>A (p.Ser371Thr)
c.715T>A (p.Ser239Thr)
c.832T>A (p.Ser278Thr)
c.1090T>A (p.Ser364Thr)
c.994-3436T>A (n.994-3436T>A)
c.782+4501T>A (n.782+4501T>A)
c.*218T>A (n.*218T>A)
c.*130T>A (n.*130T>A)
c.64T>A
c.994T>A (p.Ser332Thr)
c.1078T>A (p.Ser360Thr)
c.634T>A (p.Ser212Thr)
c.983+929T>A (n.983+929T>A)
gnomAD v4
17g.7669681C>ACA397830805TP53c.1110G>T (p.Lys370Asn)
c.714G>T (p.Lys238Asn)
c.831G>T (p.Lys277Asn)
c.1089G>T (p.Lys363Asn)
c.994-3437G>T (n.994-3437G>T)
c.782+4500G>T (n.782+4500G>T)
c.*217G>T (n.*217G>T)
c.*129G>T (n.*129G>T)
c.63G>T
c.993G>T (p.Lys331Asn)
c.1077G>T (p.Lys359Asn)
c.633G>T (p.Lys211Asn)
c.983+928G>T (n.983+928G>T)
dbSNP
17g.7669681C=CA2245941002TP53c.1110G= (p.Lys370=)
c.714G= (p.Lys238=)
c.831G= (p.Lys277=)
c.1089G= (p.Lys363=)
c.994-3437G= (n.994-3437G=)
c.782+4500G= (n.782+4500G=)
c.*217G= (n.*217G=)
c.*129G= (n.*129G=)
c.63G=
c.993G= (p.Lys331=)
c.1077G= (p.Lys359=)
c.633G= (p.Lys211=)
c.983+928G= (n.983+928G=)
17g.7669681C>GCA397830809TP53c.1110G>C (p.Lys370Asn)
c.714G>C (p.Lys238Asn)
c.831G>C (p.Lys277Asn)
c.1089G>C (p.Lys363Asn)
c.994-3437G>C (n.994-3437G>C)
c.782+4500G>C (n.782+4500G>C)
c.*217G>C (n.*217G>C)
c.*129G>C (n.*129G>C)
c.63G>C
c.993G>C (p.Lys331Asn)
c.1077G>C (p.Lys359Asn)
c.633G>C (p.Lys211Asn)
c.983+928G>C (n.983+928G>C)
dbSNP
17g.7669681C>TCA497711579TP53c.1110G>A (p.Lys370=)
c.714G>A (p.Lys238=)
c.831G>A (p.Lys277=)
c.1089G>A (p.Lys363=)
c.994-3437G>A (n.994-3437G>A)
c.782+4500G>A (n.782+4500G>A)
c.*217G>A (n.*217G>A)
c.*129G>A (n.*129G>A)
c.63G>A
c.993G>A (p.Lys331=)
c.1077G>A (p.Lys359=)
c.633G>A (p.Lys211=)
c.983+928G>A (n.983+928G>A)
ClinVar dbSNP
17g.7669682T>ACA397830842TP53c.1109A>T (p.Lys370Met)
c.713A>T (p.Lys238Met)
c.830A>T (p.Lys277Met)
c.1088A>T (p.Lys363Met)
c.994-3438A>T (n.994-3438A>T)
c.782+4499A>T (n.782+4499A>T)
c.*216A>T (n.*216A>T)
c.*128A>T (n.*128A>T)
c.62A>T
c.992A>T (p.Lys331Met)
c.1076A>T (p.Lys359Met)
c.632A>T (p.Lys211Met)
c.983+927A>T (n.983+927A>T)
ClinVar
17g.7669682T>CCA397830858TP53c.1109A>G (p.Lys370Arg)
c.713A>G (p.Lys238Arg)
c.830A>G (p.Lys277Arg)
c.1088A>G (p.Lys363Arg)
c.994-3438A>G (n.994-3438A>G)
c.782+4499A>G (n.782+4499A>G)
c.*216A>G (n.*216A>G)
c.*128A>G (n.*128A>G)
c.62A>G
c.992A>G (p.Lys331Arg)
c.1076A>G (p.Lys359Arg)
c.632A>G (p.Lys211Arg)
c.983+927A>G (n.983+927A>G)
17g.7669682T>GCA397830821TP53c.1109A>C (p.Lys370Thr)
c.713A>C (p.Lys238Thr)
c.830A>C (p.Lys277Thr)
c.1088A>C (p.Lys363Thr)
c.994-3438A>C (n.994-3438A>C)
c.782+4499A>C (n.782+4499A>C)
c.*216A>C (n.*216A>C)
c.*128A>C (n.*128A>C)
c.62A>C
c.992A>C (p.Lys331Thr)
c.1076A>C (p.Lys359Thr)
c.632A>C (p.Lys211Thr)
c.983+927A>C (n.983+927A>C)
ClinVar dbSNP
17g.7669683T>ACA397830863TP53c.1108A>T (p.Lys370Ter)
c.712A>T (p.Lys238Ter)
c.829A>T (p.Lys277Ter)
c.1087A>T (p.Lys363Ter)
c.994-3439A>T (n.994-3439A>T)
c.782+4498A>T (n.782+4498A>T)
c.*215A>T (n.*215A>T)
c.*127A>T (n.*127A>T)
c.61A>T
c.991A>T (p.Lys331Ter)
c.1075A>T (p.Lys359Ter)
c.631A>T (p.Lys211Ter)
c.983+926A>T (n.983+926A>T)
17g.7669683T>CCA397830864TP53c.1108A>G (p.Lys370Glu)
c.712A>G (p.Lys238Glu)
c.829A>G (p.Lys277Glu)
c.1087A>G (p.Lys363Glu)
c.994-3439A>G (n.994-3439A>G)
c.782+4498A>G (n.782+4498A>G)
c.*215A>G (n.*215A>G)
c.*127A>G (n.*127A>G)
c.61A>G
c.991A>G (p.Lys331Glu)
c.1075A>G (p.Lys359Glu)
c.631A>G (p.Lys211Glu)
c.983+926A>G (n.983+926A>G)
17g.7669683T>GCA397830865TP53c.1108A>C (p.Lys370Gln)
c.712A>C (p.Lys238Gln)
c.829A>C (p.Lys277Gln)
c.1087A>C (p.Lys363Gln)
c.994-3439A>C (n.994-3439A>C)
c.782+4498A>C (n.782+4498A>C)
c.*215A>C (n.*215A>C)
c.*127A>C (n.*127A>C)
c.61A>C
c.991A>C (p.Lys331Gln)
c.1075A>C (p.Lys359Gln)
c.631A>C (p.Lys211Gln)
c.983+926A>C (n.983+926A>C)
dbSNP gnomAD v4 COSMIC
17g.7669684C>ACA497711591TP53c.1107G>T (p.Leu369=)
c.711G>T (p.Leu237=)
c.828G>T (p.Leu276=)
c.1086G>T (p.Leu362=)
c.994-3440G>T (n.994-3440G>T)
c.782+4497G>T (n.782+4497G>T)
c.*214G>T (n.*214G>T)
c.*126G>T (n.*126G>T)
c.60G>T
c.990G>T (p.Leu330=)
c.1074G>T (p.Leu358=)
c.630G>T (p.Leu210=)
c.983+925G>T (n.983+925G>T)
17g.7669684C>GCA497711594TP53c.1107G>C (p.Leu369=)
c.711G>C (p.Leu237=)
c.828G>C (p.Leu276=)
c.1086G>C (p.Leu362=)
c.994-3440G>C (n.994-3440G>C)
c.782+4497G>C (n.782+4497G>C)
c.*214G>C (n.*214G>C)
c.*126G>C (n.*126G>C)
c.60G>C
c.990G>C (p.Leu330=)
c.1074G>C (p.Leu358=)
c.630G>C (p.Leu210=)
c.983+925G>C (n.983+925G>C)
dbSNP
17g.7669684C>TCA497711596TP53c.1107G>A (p.Leu369=)
c.711G>A (p.Leu237=)
c.828G>A (p.Leu276=)
c.1086G>A (p.Leu362=)
c.994-3440G>A (n.994-3440G>A)
c.782+4497G>A (n.782+4497G>A)
c.*214G>A (n.*214G>A)
c.*126G>A (n.*126G>A)
c.60G>A
c.990G>A (p.Leu330=)
c.1074G>A (p.Leu358=)
c.630G>A (p.Leu210=)
c.983+925G>A (n.983+925G>A)
ClinVar dbSNP
17g.7669684_7669773delinsCAGGTGGCTGTAGGAGACAGAAGCAGGGAGGAGAGATGACATCACATGAGTGAGAGGGTCTGTGCCCCTTTTCCCTGACCAATGCTTTGACA2245941009TP53c.1101-83_1107delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG
c.705-83_711delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG
c.822-83_828delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG
c.1080-83_1086delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG
c.994-3529_994-3440delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG (n.994-3529_994-3440delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG)
c.782+4408_782+4497delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG (n.782+4408_782+4497delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG)
c.*208-83_*214delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG
c.*120-83_*126delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG
c.54-83_60delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG
c.984-83_990delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG
c.1068-83_1074delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG
c.624-83_630delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG
c.983+836_983+925delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG (n.983+836_983+925delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG)
17g.7669685A>CCA397830866TP53c.1106T>G (p.Leu369Arg)
c.710T>G (p.Leu237Arg)
c.827T>G (p.Leu276Arg)
c.1085T>G (p.Leu362Arg)
c.994-3441T>G (n.994-3441T>G)
c.782+4496T>G (n.782+4496T>G)
c.*213T>G (n.*213T>G)
c.*125T>G (n.*125T>G)
c.59T>G
c.989T>G (p.Leu330Arg)
c.1073T>G (p.Leu358Arg)
c.629T>G (p.Leu210Arg)
c.983+924T>G (n.983+924T>G)
17g.7669685A>GCA397830867TP53c.1106T>C (p.Leu369Pro)
c.710T>C (p.Leu237Pro)
c.827T>C (p.Leu276Pro)
c.1085T>C (p.Leu362Pro)
c.994-3441T>C (n.994-3441T>C)
c.782+4496T>C (n.782+4496T>C)
c.*213T>C (n.*213T>C)
c.*125T>C (n.*125T>C)
c.59T>C
c.989T>C (p.Leu330Pro)
c.1073T>C (p.Leu358Pro)
c.629T>C (p.Leu210Pro)
c.983+924T>C (n.983+924T>C)
dbSNP
17g.7669685A>TCA397830868TP53c.1106T>A (p.Leu369Gln)
c.710T>A (p.Leu237Gln)
c.827T>A (p.Leu276Gln)
c.1085T>A (p.Leu362Gln)
c.994-3441T>A (n.994-3441T>A)
c.782+4496T>A (n.782+4496T>A)
c.*213T>A (n.*213T>A)
c.*125T>A (n.*125T>A)
c.59T>A
c.989T>A (p.Leu330Gln)
c.1073T>A (p.Leu358Gln)
c.629T>A (p.Leu210Gln)
c.983+924T>A (n.983+924T>A)
dbSNP
17g.7669688_7669776delCA915949509TP53c.1101-83_1106del
c.705-83_710del
c.822-83_827del
c.1080-83_1085del
c.994-3529_994-3441del (n.994-3529_994-3441del)
c.782+4408_782+4496del (n.782+4408_782+4496del)
c.*208-83_*213del
c.*120-83_*125del
c.54-83_59del
c.984-83_989del
c.1068-83_1073del
c.624-83_629del
c.983+836_983+924del (n.983+836_983+924del)
ClinVar dbSNP
17g.7669686G>ACA497711603TP53c.1105C>T (p.Leu369=)
c.709C>T (p.Leu237=)
c.826C>T (p.Leu276=)
c.1084C>T (p.Leu362=)
c.994-3442C>T (n.994-3442C>T)
c.782+4495C>T (n.782+4495C>T)
c.*212C>T (n.*212C>T)
c.*124C>T (n.*124C>T)
c.58C>T
c.988C>T (p.Leu330=)
c.1072C>T (p.Leu358=)
c.628C>T (p.Leu210=)
c.983+923C>T (n.983+923C>T)
17g.7669686G>CCA397830869TP53c.1105C>G (p.Leu369Val)
c.709C>G (p.Leu237Val)
c.826C>G (p.Leu276Val)
c.1084C>G (p.Leu362Val)
c.994-3442C>G (n.994-3442C>G)
c.782+4495C>G (n.782+4495C>G)
c.*212C>G (n.*212C>G)
c.*124C>G (n.*124C>G)
c.58C>G
c.988C>G (p.Leu330Val)
c.1072C>G (p.Leu358Val)
c.628C>G (p.Leu210Val)
c.983+923C>G (n.983+923C>G)
17g.7669686G>TCA397830871TP53c.1105C>A (p.Leu369Met)
c.709C>A (p.Leu237Met)
c.826C>A (p.Leu276Met)
c.1084C>A (p.Leu362Met)
c.994-3442C>A (n.994-3442C>A)
c.782+4495C>A (n.782+4495C>A)
c.*212C>A (n.*212C>A)
c.*124C>A (n.*124C>A)
c.58C>A
c.988C>A (p.Leu330Met)
c.1072C>A (p.Leu358Met)
c.628C>A (p.Leu210Met)
c.983+923C>A (n.983+923C>A)
17g.7669687G>ACA497711608TP53c.1104C>T (p.His368=)
c.708C>T (p.His236=)
c.825C>T (p.His275=)
c.1083C>T (p.His361=)
c.994-3443C>T (n.994-3443C>T)
c.782+4494C>T (n.782+4494C>T)
c.*211C>T (n.*211C>T)
c.*123C>T (n.*123C>T)
c.57C>T
c.987C>T (p.His329=)
c.1071C>T (p.His357=)
c.627C>T (p.His209=)
c.983+922C>T (n.983+922C>T)
ClinVar dbSNP
17g.7669687G>CCA397830872TP53c.1104C>G (p.His368Gln)
c.708C>G (p.His236Gln)
c.825C>G (p.His275Gln)
c.1083C>G (p.His361Gln)
c.994-3443C>G (n.994-3443C>G)
c.782+4494C>G (n.782+4494C>G)
c.*211C>G (n.*211C>G)
c.*123C>G (n.*123C>G)
c.57C>G
c.987C>G (p.His329Gln)
c.1071C>G (p.His357Gln)
c.627C>G (p.His209Gln)
c.983+922C>G (n.983+922C>G)
ClinVar dbSNP
17g.7669687G=CA2245941042TP53c.1104C= (p.His368=)
c.708C= (p.His236=)
c.825C= (p.His275=)
c.1083C= (p.His361=)
c.994-3443C= (n.994-3443C=)
c.782+4494C= (n.782+4494C=)
c.*211C= (n.*211C=)
c.*123C= (n.*123C=)
c.57C=
c.987C= (p.His329=)
c.1071C= (p.His357=)
c.627C= (p.His209=)
c.983+922C= (n.983+922C=)
17g.7669687G>TCA397830875TP53c.1104C>A (p.His368Gln)
c.708C>A (p.His236Gln)
c.825C>A (p.His275Gln)
c.1083C>A (p.His361Gln)
c.994-3443C>A (n.994-3443C>A)
c.782+4494C>A (n.782+4494C>A)
c.*211C>A (n.*211C>A)
c.*123C>A (n.*123C>A)
c.57C>A
c.987C>A (p.His329Gln)
c.1071C>A (p.His357Gln)
c.627C>A (p.His209Gln)
c.983+922C>A (n.983+922C>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.7669688T>ACA397830879TP53c.1103A>T (p.His368Leu)
c.707A>T (p.His236Leu)
c.824A>T (p.His275Leu)
c.1082A>T (p.His361Leu)
c.994-3444A>T (n.994-3444A>T)
c.782+4493A>T (n.782+4493A>T)
c.*210A>T (n.*210A>T)
c.*122A>T (n.*122A>T)
c.56A>T
c.986A>T (p.His329Leu)
c.1070A>T (p.His357Leu)
c.626A>T (p.His209Leu)
c.983+921A>T (n.983+921A>T)
dbSNP
17g.7669688T>CCA397830881TP53c.1103A>G (p.His368Arg)
c.707A>G (p.His236Arg)
c.824A>G (p.His275Arg)
c.1082A>G (p.His361Arg)
c.994-3444A>G (n.994-3444A>G)
c.782+4493A>G (n.782+4493A>G)
c.*210A>G (n.*210A>G)
c.*122A>G (n.*122A>G)
c.56A>G
c.986A>G (p.His329Arg)
c.1070A>G (p.His357Arg)
c.626A>G (p.His209Arg)
c.983+921A>G (n.983+921A>G)
ClinVar dbSNP
17g.7669688T>GCA397830889TP53c.1103A>C (p.His368Pro)
c.707A>C (p.His236Pro)
c.824A>C (p.His275Pro)
c.1082A>C (p.His361Pro)
c.994-3444A>C (n.994-3444A>C)
c.782+4493A>C (n.782+4493A>C)
c.*210A>C (n.*210A>C)
c.*122A>C (n.*122A>C)
c.56A>C
c.986A>C (p.His329Pro)
c.1070A>C (p.His357Pro)
c.626A>C (p.His209Pro)
c.983+921A>C (n.983+921A>C)
dbSNP gnomAD v4
17g.7669689G>ACA000039TP53c.1102C>T (p.His368Tyr)
c.706C>T (p.His236Tyr)
c.823C>T (p.His275Tyr)
c.1081C>T (p.His361Tyr)
c.994-3445C>T (n.994-3445C>T)
c.782+4492C>T (n.782+4492C>T)
c.*209C>T (n.*209C>T)
c.*121C>T (n.*121C>T)
c.55C>T
c.985C>T (p.His329Tyr)
c.1069C>T (p.His357Tyr)
c.625C>T (p.His209Tyr)
c.983+920C>T (n.983+920C>T)
ClinVar dbSNP
17g.7669689G>CCA287485486TP53c.1102C>G (p.His368Asp)
c.706C>G (p.His236Asp)
c.823C>G (p.His275Asp)
c.1081C>G (p.His361Asp)
c.994-3445C>G (n.994-3445C>G)
c.782+4492C>G (n.782+4492C>G)
c.*209C>G (n.*209C>G)
c.*121C>G (n.*121C>G)
c.55C>G
c.985C>G (p.His329Asp)
c.1069C>G (p.His357Asp)
c.625C>G (p.His209Asp)
c.983+920C>G (n.983+920C>G)
dbSNP
17g.7669689G=CA2245941052TP53c.1102C= (p.His368=)
c.706C= (p.His236=)
c.823C= (p.His275=)
c.1081C= (p.His361=)
c.994-3445C= (n.994-3445C=)
c.782+4492C= (n.782+4492C=)
c.*209C= (n.*209C=)
c.*121C= (n.*121C=)
c.55C=
c.985C= (p.His329=)
c.1069C= (p.His357=)
c.625C= (p.His209=)
c.983+920C= (n.983+920C=)
17g.7669689G>TCA397830904TP53c.1102C>A (p.His368Asn)
c.706C>A (p.His236Asn)
c.823C>A (p.His275Asn)
c.1081C>A (p.His361Asn)
c.994-3445C>A (n.994-3445C>A)
c.782+4492C>A (n.782+4492C>A)
c.*209C>A (n.*209C>A)
c.*121C>A (n.*121C>A)
c.55C>A
c.985C>A (p.His329Asn)
c.1069C>A (p.His357Asn)
c.625C>A (p.His209Asn)
c.983+920C>A (n.983+920C>A)
ClinVar dbSNP
17g.7669690G>ACA497711624TP53c.1101C>T (p.Ser367=)
c.705C>T (p.Ser235=)
c.822C>T (p.Ser274=)
c.1080C>T (p.Ser360=)
c.994-3446C>T (n.994-3446C>T)
c.782+4491C>T (n.782+4491C>T)
c.*208C>T (n.*208C>T)
c.*120C>T (n.*120C>T)
c.54C>T
c.984C>T (p.Ser328=)
c.1068C>T (p.Ser356=)
c.624C>T (p.Ser208=)
c.983+919C>T (n.983+919C>T)
ClinVar dbSNP
17g.7669690G>CCA397830908TP53c.1101C>G (p.Ser367Arg)
c.705C>G (p.Ser235Arg)
c.822C>G (p.Ser274Arg)
c.1080C>G (p.Ser360Arg)
c.994-3446C>G (n.994-3446C>G)
c.782+4491C>G (n.782+4491C>G)
c.*208C>G (n.*208C>G)
c.*120C>G (n.*120C>G)
c.54C>G
c.984C>G (p.Ser328Arg)
c.1068C>G (p.Ser356Arg)
c.624C>G (p.Ser208Arg)
c.983+919C>G (n.983+919C>G)
dbSNP
17g.7669690G>TCA397830912TP53c.1101C>A (p.Ser367Arg)
c.705C>A (p.Ser235Arg)
c.822C>A (p.Ser274Arg)
c.1080C>A (p.Ser360Arg)
c.994-3446C>A (n.994-3446C>A)
c.782+4491C>A (n.782+4491C>A)
c.*208C>A (n.*208C>A)
c.*120C>A (n.*120C>A)
c.54C>A
c.984C>A (p.Ser328Arg)
c.1068C>A (p.Ser356Arg)
c.624C>A (p.Ser208Arg)
c.983+919C>A (n.983+919C>A)
17g.7669691C>ACA397830915TP53c.1101-1G>T (n.1101-1G>T)
c.705-1G>T (n.705-1G>T)
c.822-1G>T (n.822-1G>T)
c.1080-1G>T (n.1080-1G>T)
c.994-3447G>T (n.994-3447G>T)
c.782+4490G>T (n.782+4490G>T)
c.*208-1G>T (n.*208-1G>T)
c.*120-1G>T (n.*120-1G>T)
c.54-1G>T
c.984-1G>T (n.984-1G>T)
c.1068-1G>T (n.1068-1G>T)
c.624-1G>T (n.624-1G>T)
c.983+918G>T (n.983+918G>T)
dbSNP
17g.7669691C=CA2245941067TP53c.1101-1G= (n.1101-1G=)
c.705-1G= (n.705-1G=)
c.822-1G= (n.822-1G=)
c.1080-1G= (n.1080-1G=)
c.994-3447G= (n.994-3447G=)
c.782+4490G= (n.782+4490G=)
c.*208-1G= (n.*208-1G=)
c.*120-1G= (n.*120-1G=)
c.54-1G=
c.984-1G= (n.984-1G=)
c.1068-1G= (n.1068-1G=)
c.624-1G= (n.624-1G=)
c.983+918G= (n.983+918G=)
17g.7669691C>GCA397830919TP53c.1101-1G>C (n.1101-1G>C)
c.705-1G>C (n.705-1G>C)
c.822-1G>C (n.822-1G>C)
c.1080-1G>C (n.1080-1G>C)
c.994-3447G>C (n.994-3447G>C)
c.782+4490G>C (n.782+4490G>C)
c.*208-1G>C (n.*208-1G>C)
c.*120-1G>C (n.*120-1G>C)
c.54-1G>C
c.984-1G>C (n.984-1G>C)
c.1068-1G>C (n.1068-1G>C)
c.624-1G>C (n.624-1G>C)
c.983+918G>C (n.983+918G>C)
ClinVar
17g.7669691C>TCA10580902TP53c.1101-1G>A (n.1101-1G>A)
c.705-1G>A (n.705-1G>A)
c.822-1G>A (n.822-1G>A)
c.1080-1G>A (n.1080-1G>A)
c.994-3447G>A (n.994-3447G>A)
c.782+4490G>A (n.782+4490G>A)
c.*208-1G>A (n.*208-1G>A)
c.*120-1G>A (n.*120-1G>A)
c.54-1G>A
c.984-1G>A (n.984-1G>A)
c.1068-1G>A (n.1068-1G>A)
c.624-1G>A (n.624-1G>A)
c.983+918G>A (n.983+918G>A)
ClinVar dbSNP
17g.7669692T>ACA397830922TP53c.1101-2A>T (n.1101-2A>T)
c.705-2A>T (n.705-2A>T)
c.822-2A>T (n.822-2A>T)
c.1080-2A>T (n.1080-2A>T)
c.994-3448A>T (n.994-3448A>T)
c.782+4489A>T (n.782+4489A>T)
c.*208-2A>T (n.*208-2A>T)
c.*120-2A>T (n.*120-2A>T)
c.54-2A>T
c.984-2A>T (n.984-2A>T)
c.1068-2A>T (n.1068-2A>T)
c.624-2A>T (n.624-2A>T)
c.983+917A>T (n.983+917A>T)
ClinVar dbSNP COSMIC
17g.7669692T>CCA000038TP53c.1101-2A>G (n.1101-2A>G)
c.705-2A>G (n.705-2A>G)
c.822-2A>G (n.822-2A>G)
c.1080-2A>G (n.1080-2A>G)
c.994-3448A>G (n.994-3448A>G)
c.782+4489A>G (n.782+4489A>G)
c.*208-2A>G (n.*208-2A>G)
c.*120-2A>G (n.*120-2A>G)
c.54-2A>G
c.984-2A>G (n.984-2A>G)
c.1068-2A>G (n.1068-2A>G)
c.624-2A>G (n.624-2A>G)
c.983+917A>G (n.983+917A>G)
ClinVar dbSNP
17g.7669692T>GCA397830927TP53c.1101-2A>C (n.1101-2A>C)
c.705-2A>C (n.705-2A>C)
c.822-2A>C (n.822-2A>C)
c.1080-2A>C (n.1080-2A>C)
c.994-3448A>C (n.994-3448A>C)
c.782+4489A>C (n.782+4489A>C)
c.*208-2A>C (n.*208-2A>C)
c.*120-2A>C (n.*120-2A>C)
c.54-2A>C
c.984-2A>C (n.984-2A>C)
c.1068-2A>C (n.1068-2A>C)
c.624-2A>C (n.624-2A>C)
c.983+917A>C (n.983+917A>C)
ClinVar dbSNP COSMIC COSMIC
17g.7669692T=CA2245941075TP53c.1101-2A= (n.1101-2A=)
c.705-2A= (n.705-2A=)
c.822-2A= (n.822-2A=)
c.1080-2A= (n.1080-2A=)
c.994-3448A= (n.994-3448A=)
c.782+4489A= (n.782+4489A=)
c.*208-2A= (n.*208-2A=)
c.*120-2A= (n.*120-2A=)
c.54-2A=
c.984-2A= (n.984-2A=)
c.1068-2A= (n.1068-2A=)
c.624-2A= (n.624-2A=)
c.983+917A= (n.983+917A=)
17g.7669693G>ACA16608655TP53c.1101-3C>T (n.1101-3C>T)
c.705-3C>T (n.705-3C>T)
c.822-3C>T (n.822-3C>T)
c.1080-3C>T (n.1080-3C>T)
c.994-3449C>T (n.994-3449C>T)
c.782+4488C>T (n.782+4488C>T)
c.*208-3C>T (n.*208-3C>T)
c.*120-3C>T (n.*120-3C>T)
c.54-3C>T
c.984-3C>T (n.984-3C>T)
c.1068-3C>T (n.1068-3C>T)
c.624-3C>T (n.624-3C>T)
c.983+916C>T (n.983+916C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.7669693G>CCA2732943613TP53c.1101-3C>G (n.1101-3C>G)
c.705-3C>G (n.705-3C>G)
c.822-3C>G (n.822-3C>G)
c.1080-3C>G (n.1080-3C>G)
c.994-3449C>G (n.994-3449C>G)
c.782+4488C>G (n.782+4488C>G)
c.*208-3C>G (n.*208-3C>G)
c.*120-3C>G (n.*120-3C>G)
c.54-3C>G
c.984-3C>G (n.984-3C>G)
c.1068-3C>G (n.1068-3C>G)
c.624-3C>G (n.624-3C>G)
c.983+916C>G (n.983+916C>G)
dbSNP
17g.7669693G=CA2245941083TP53c.1101-3C= (n.1101-3C=)
c.705-3C= (n.705-3C=)
c.822-3C= (n.822-3C=)
c.1080-3C= (n.1080-3C=)
c.994-3449C= (n.994-3449C=)
c.782+4488C= (n.782+4488C=)
c.*208-3C= (n.*208-3C=)
c.*120-3C= (n.*120-3C=)
c.54-3C=
c.984-3C= (n.984-3C=)
c.1068-3C= (n.1068-3C=)
c.624-3C= (n.624-3C=)
c.983+916C= (n.983+916C=)
17g.7669694T>ACA2733127132TP53c.1101-4A>T (n.1101-4A>T)
c.705-4A>T (n.705-4A>T)
c.822-4A>T (n.822-4A>T)
c.1080-4A>T (n.1080-4A>T)
c.994-3450A>T (n.994-3450A>T)
c.782+4487A>T (n.782+4487A>T)
c.*208-4A>T (n.*208-4A>T)
c.*120-4A>T (n.*120-4A>T)
c.54-4A>T
c.984-4A>T (n.984-4A>T)
c.1068-4A>T (n.1068-4A>T)
c.624-4A>T (n.624-4A>T)
c.983+915A>T (n.983+915A>T)
dbSNP
17g.7669694T>CCA2580094821TP53c.1101-4A>G (n.1101-4A>G)
c.705-4A>G (n.705-4A>G)
c.822-4A>G (n.822-4A>G)
c.1080-4A>G (n.1080-4A>G)
c.994-3450A>G (n.994-3450A>G)
c.782+4487A>G (n.782+4487A>G)
c.*208-4A>G (n.*208-4A>G)
c.*120-4A>G (n.*120-4A>G)
c.54-4A>G
c.984-4A>G (n.984-4A>G)
c.1068-4A>G (n.1068-4A>G)
c.624-4A>G (n.624-4A>G)
c.983+915A>G (n.983+915A>G)
ClinVar dbSNP
17g.7669694T>GCA2733126968TP53c.1101-4A>C (n.1101-4A>C)
c.705-4A>C (n.705-4A>C)
c.822-4A>C (n.822-4A>C)
c.1080-4A>C (n.1080-4A>C)
c.994-3450A>C (n.994-3450A>C)
c.782+4487A>C (n.782+4487A>C)
c.*208-4A>C (n.*208-4A>C)
c.*120-4A>C (n.*120-4A>C)
c.54-4A>C
c.984-4A>C (n.984-4A>C)
c.1068-4A>C (n.1068-4A>C)
c.624-4A>C (n.624-4A>C)
c.983+915A>C (n.983+915A>C)
dbSNP
17g.7669694_7669711delinsTAGGAGACAGAAGCAGGGCA2245941087TP53c.1101-21_1101-4delinsCCCTGCTTCTGTCTCCTA (n.1101-21_1101-4delinsCCCTGCTTCTGTCTCCTA)
c.705-21_705-4delinsCCCTGCTTCTGTCTCCTA (n.705-21_705-4delinsCCCTGCTTCTGTCTCCTA)
c.822-21_822-4delinsCCCTGCTTCTGTCTCCTA (n.822-21_822-4delinsCCCTGCTTCTGTCTCCTA)
c.1080-21_1080-4delinsCCCTGCTTCTGTCTCCTA (n.1080-21_1080-4delinsCCCTGCTTCTGTCTCCTA)
c.994-3467_994-3450delinsCCCTGCTTCTGTCTCCTA (n.994-3467_994-3450delinsCCCTGCTTCTGTCTCCTA)
c.782+4470_782+4487delinsCCCTGCTTCTGTCTCCTA (n.782+4470_782+4487delinsCCCTGCTTCTGTCTCCTA)
c.*208-21_*208-4delinsCCCTGCTTCTGTCTCCTA (n.*208-21_*208-4delinsCCCTGCTTCTGTCTCCTA)
c.*120-21_*120-4delinsCCCTGCTTCTGTCTCCTA (n.*120-21_*120-4delinsCCCTGCTTCTGTCTCCTA)
c.54-21_54-4delinsCCCTGCTTCTGTCTCCTA
c.984-21_984-4delinsCCCTGCTTCTGTCTCCTA (n.984-21_984-4delinsCCCTGCTTCTGTCTCCTA)
c.1068-21_1068-4delinsCCCTGCTTCTGTCTCCTA (n.1068-21_1068-4delinsCCCTGCTTCTGTCTCCTA)
c.624-21_624-4delinsCCCTGCTTCTGTCTCCTA (n.624-21_624-4delinsCCCTGCTTCTGTCTCCTA)
c.983+898_983+915delinsCCCTGCTTCTGTCTCCTA (n.983+898_983+915delinsCCCTGCTTCTGTCTCCTA)
17g.7669695A>GCA2635879106TP53c.1101-5T>C (n.1101-5T>C)
c.705-5T>C (n.705-5T>C)
c.822-5T>C (n.822-5T>C)
c.1080-5T>C (n.1080-5T>C)
c.994-3451T>C (n.994-3451T>C)
c.782+4486T>C (n.782+4486T>C)
c.*208-5T>C (n.*208-5T>C)
c.*120-5T>C (n.*120-5T>C)
c.54-5T>C
c.984-5T>C (n.984-5T>C)
c.1068-5T>C (n.1068-5T>C)
c.624-5T>C (n.624-5T>C)
c.983+914T>C (n.983+914T>C)
dbSNP gnomAD v4
17g.7669701_7669717delCA624725483TP53c.1101-21_1101-5del (n.1101-21_1101-5del)
c.705-21_705-5del (n.705-21_705-5del)
c.822-21_822-5del (n.822-21_822-5del)
c.1080-21_1080-5del (n.1080-21_1080-5del)
c.994-3467_994-3451del (n.994-3467_994-3451del)
c.782+4470_782+4486del (n.782+4470_782+4486del)
c.*208-21_*208-5del (n.*208-21_*208-5del)
c.*120-21_*120-5del (n.*120-21_*120-5del)
c.54-21_54-5del
c.984-21_984-5del (n.984-21_984-5del)
c.1068-21_1068-5del (n.1068-21_1068-5del)
c.624-21_624-5del (n.624-21_624-5del)
c.983+898_983+914del (n.983+898_983+914del)
dbSNP gnomAD v2 gnomAD v4
17g.7669696G>CCA2697559385TP53c.1101-6C>G (n.1101-6C>G)
c.705-6C>G (n.705-6C>G)
c.822-6C>G (n.822-6C>G)
c.1080-6C>G (n.1080-6C>G)
c.994-3452C>G (n.994-3452C>G)
c.782+4485C>G (n.782+4485C>G)
c.*208-6C>G (n.*208-6C>G)
c.*120-6C>G (n.*120-6C>G)
c.54-6C>G
c.984-6C>G (n.984-6C>G)
c.1068-6C>G (n.1068-6C>G)
c.624-6C>G (n.624-6C>G)
c.983+913C>G (n.983+913C>G)
ClinVar
17g.7669697G>ACA915949510TP53c.1101-7C>T (n.1101-7C>T)
c.705-7C>T (n.705-7C>T)
c.822-7C>T (n.822-7C>T)
c.1080-7C>T (n.1080-7C>T)
c.994-3453C>T (n.994-3453C>T)
c.782+4484C>T (n.782+4484C>T)
c.*208-7C>T (n.*208-7C>T)
c.*120-7C>T (n.*120-7C>T)
c.54-7C>T
c.984-7C>T (n.984-7C>T)
c.1068-7C>T (n.1068-7C>T)
c.624-7C>T (n.624-7C>T)
c.983+912C>T (n.983+912C>T)
ClinVar dbSNP
17g.7669697G>CCA2732965330TP53c.1101-7C>G (n.1101-7C>G)
c.705-7C>G (n.705-7C>G)
c.822-7C>G (n.822-7C>G)
c.1080-7C>G (n.1080-7C>G)
c.994-3453C>G (n.994-3453C>G)
c.782+4484C>G (n.782+4484C>G)
c.*208-7C>G (n.*208-7C>G)
c.*120-7C>G (n.*120-7C>G)
c.54-7C>G
c.984-7C>G (n.984-7C>G)
c.1068-7C>G (n.1068-7C>G)
c.624-7C>G (n.624-7C>G)
c.983+912C>G (n.983+912C>G)
dbSNP
17g.7669697G=CA2245941098TP53c.1101-7C= (n.1101-7C=)
c.705-7C= (n.705-7C=)
c.822-7C= (n.822-7C=)
c.1080-7C= (n.1080-7C=)
c.994-3453C= (n.994-3453C=)
c.782+4484C= (n.782+4484C=)
c.*208-7C= (n.*208-7C=)
c.*120-7C= (n.*120-7C=)
c.54-7C=
c.984-7C= (n.984-7C=)
c.1068-7C= (n.1068-7C=)
c.624-7C= (n.624-7C=)
c.983+912C= (n.983+912C=)
17g.7669698A>GCA2733127155TP53c.1101-8T>C (n.1101-8T>C)
c.705-8T>C (n.705-8T>C)
c.822-8T>C (n.822-8T>C)
c.1080-8T>C (n.1080-8T>C)
c.994-3454T>C (n.994-3454T>C)
c.782+4483T>C (n.782+4483T>C)
c.*208-8T>C (n.*208-8T>C)
c.*120-8T>C (n.*120-8T>C)
c.54-8T>C
c.984-8T>C (n.984-8T>C)
c.1068-8T>C (n.1068-8T>C)
c.624-8T>C (n.624-8T>C)
c.983+911T>C (n.983+911T>C)
dbSNP
17g.7669698A>TCA2499224948TP53c.1101-8T>A (n.1101-8T>A)
c.705-8T>A (n.705-8T>A)
c.822-8T>A (n.822-8T>A)
c.1080-8T>A (n.1080-8T>A)
c.994-3454T>A (n.994-3454T>A)
c.782+4483T>A (n.782+4483T>A)
c.*208-8T>A (n.*208-8T>A)
c.*120-8T>A (n.*120-8T>A)
c.54-8T>A
c.984-8T>A (n.984-8T>A)
c.1068-8T>A (n.1068-8T>A)
c.624-8T>A (n.624-8T>A)
c.983+911T>A (n.983+911T>A)
ClinVar dbSNP
17g.7669701_7669704delCA2499224947TP53c.1101-11_1101-8del (n.1101-11_1101-8del)
c.705-11_705-8del (n.705-11_705-8del)
c.822-11_822-8del (n.822-11_822-8del)
c.1080-11_1080-8del (n.1080-11_1080-8del)
c.994-3457_994-3454del (n.994-3457_994-3454del)
c.782+4480_782+4483del (n.782+4480_782+4483del)
c.*208-11_*208-8del (n.*208-11_*208-8del)
c.*120-11_*120-8del (n.*120-11_*120-8del)
c.54-11_54-8del
c.984-11_984-8del (n.984-11_984-8del)
c.1068-11_1068-8del (n.1068-11_1068-8del)
c.624-11_624-8del (n.624-11_624-8del)
c.983+908_983+911del (n.983+908_983+911del)
ClinVar dbSNP
17g.7669699G>ACA2733127157TP53c.1101-9C>T (n.1101-9C>T)
c.705-9C>T (n.705-9C>T)
c.822-9C>T (n.822-9C>T)
c.1080-9C>T (n.1080-9C>T)
c.994-3455C>T (n.994-3455C>T)
c.782+4482C>T (n.782+4482C>T)
c.*208-9C>T (n.*208-9C>T)
c.*120-9C>T (n.*120-9C>T)
c.54-9C>T
c.984-9C>T (n.984-9C>T)
c.1068-9C>T (n.1068-9C>T)
c.624-9C>T (n.624-9C>T)
c.983+910C>T (n.983+910C>T)
dbSNP
17g.7669699G>CCA2733127156TP53c.1101-9C>G (n.1101-9C>G)
c.705-9C>G (n.705-9C>G)
c.822-9C>G (n.822-9C>G)
c.1080-9C>G (n.1080-9C>G)
c.994-3455C>G (n.994-3455C>G)
c.782+4482C>G (n.782+4482C>G)
c.*208-9C>G (n.*208-9C>G)
c.*120-9C>G (n.*120-9C>G)
c.54-9C>G
c.984-9C>G (n.984-9C>G)
c.1068-9C>G (n.1068-9C>G)
c.624-9C>G (n.624-9C>G)
c.983+910C>G (n.983+910C>G)
dbSNP
17g.7669700A>GCA2635879108TP53c.1101-10T>C (n.1101-10T>C)
c.705-10T>C (n.705-10T>C)
c.822-10T>C (n.822-10T>C)
c.1080-10T>C (n.1080-10T>C)
c.994-3456T>C (n.994-3456T>C)
c.782+4481T>C (n.782+4481T>C)
c.*208-10T>C (n.*208-10T>C)
c.*120-10T>C (n.*120-10T>C)
c.54-10T>C
c.984-10T>C (n.984-10T>C)
c.1068-10T>C (n.1068-10T>C)
c.624-10T>C (n.624-10T>C)
c.983+909T>C (n.983+909T>C)
ClinVar dbSNP gnomAD v4
17g.7669701C>ACA2732950238TP53c.1101-11G>T (n.1101-11G>T)
c.705-11G>T (n.705-11G>T)
c.822-11G>T (n.822-11G>T)
c.1080-11G>T (n.1080-11G>T)
c.994-3457G>T (n.994-3457G>T)
c.782+4480G>T (n.782+4480G>T)
c.*208-11G>T (n.*208-11G>T)
c.*120-11G>T (n.*120-11G>T)
c.54-11G>T
c.984-11G>T (n.984-11G>T)
c.1068-11G>T (n.1068-11G>T)
c.624-11G>T (n.624-11G>T)
c.983+908G>T (n.983+908G>T)
dbSNP
17g.7669701C=CA2245941100TP53c.1101-11G= (n.1101-11G=)
c.705-11G= (n.705-11G=)
c.822-11G= (n.822-11G=)
c.1080-11G= (n.1080-11G=)
c.994-3457G= (n.994-3457G=)
c.782+4480G= (n.782+4480G=)
c.*208-11G= (n.*208-11G=)
c.*120-11G= (n.*120-11G=)
c.54-11G=
c.984-11G= (n.984-11G=)
c.1068-11G= (n.1068-11G=)
c.624-11G= (n.624-11G=)
c.983+908G= (n.983+908G=)
17g.7669701C>GCA2732950237TP53c.1101-11G>C (n.1101-11G>C)
c.705-11G>C (n.705-11G>C)
c.822-11G>C (n.822-11G>C)
c.1080-11G>C (n.1080-11G>C)
c.994-3457G>C (n.994-3457G>C)
c.782+4480G>C (n.782+4480G>C)
c.*208-11G>C (n.*208-11G>C)
c.*120-11G>C (n.*120-11G>C)
c.54-11G>C
c.984-11G>C (n.984-11G>C)
c.1068-11G>C (n.1068-11G>C)
c.624-11G>C (n.624-11G>C)
c.983+908G>C (n.983+908G>C)
dbSNP
17g.7669701C>TCA624725485TP53c.1101-11G>A (n.1101-11G>A)
c.705-11G>A (n.705-11G>A)
c.822-11G>A (n.822-11G>A)
c.1080-11G>A (n.1080-11G>A)
c.994-3457G>A (n.994-3457G>A)
c.782+4480G>A (n.782+4480G>A)
c.*208-11G>A (n.*208-11G>A)
c.*120-11G>A (n.*120-11G>A)
c.54-11G>A
c.984-11G>A (n.984-11G>A)
c.1068-11G>A (n.1068-11G>A)
c.624-11G>A (n.624-11G>A)
c.983+908G>A (n.983+908G>A)
dbSNP gnomAD v2 gnomAD v4
17g.7669703_7669704delCA2635879109TP53c.1101-13_1101-12del (n.1101-13_1101-12del)
c.705-13_705-12del (n.705-13_705-12del)
c.822-13_822-12del (n.822-13_822-12del)
c.1080-13_1080-12del (n.1080-13_1080-12del)
c.994-3459_994-3458del (n.994-3459_994-3458del)
c.782+4478_782+4479del (n.782+4478_782+4479del)
c.*208-13_*208-12del (n.*208-13_*208-12del)
c.*120-13_*120-12del (n.*120-13_*120-12del)
c.54-13_54-12del
c.984-13_984-12del (n.984-13_984-12del)
c.1068-13_1068-12del (n.1068-13_1068-12del)
c.624-13_624-12del (n.624-13_624-12del)
c.983+906_983+907del (n.983+906_983+907del)
gnomAD v4
17g.7669703G>ACA287485490TP53c.1101-13C>T (n.1101-13C>T)
c.705-13C>T (n.705-13C>T)
c.822-13C>T (n.822-13C>T)
c.1080-13C>T (n.1080-13C>T)
c.994-3459C>T (n.994-3459C>T)
c.782+4478C>T (n.782+4478C>T)
c.*208-13C>T (n.*208-13C>T)
c.*120-13C>T (n.*120-13C>T)
c.54-13C>T
c.984-13C>T (n.984-13C>T)
c.1068-13C>T (n.1068-13C>T)
c.624-13C>T (n.624-13C>T)
c.983+906C>T (n.983+906C>T)
ClinVar dbSNP gnomAD v4
17g.7669703G>CCA2499224949TP53c.1101-13C>G (n.1101-13C>G)
c.705-13C>G (n.705-13C>G)
c.822-13C>G (n.822-13C>G)
c.1080-13C>G (n.1080-13C>G)
c.994-3459C>G (n.994-3459C>G)
c.782+4478C>G (n.782+4478C>G)
c.*208-13C>G (n.*208-13C>G)
c.*120-13C>G (n.*120-13C>G)
c.54-13C>G
c.984-13C>G (n.984-13C>G)
c.1068-13C>G (n.1068-13C>G)
c.624-13C>G (n.624-13C>G)
c.983+906C>G (n.983+906C>G)
ClinVar dbSNP gnomAD v4
17g.7669703G=CA2245941108TP53c.1101-13C= (n.1101-13C=)
c.705-13C= (n.705-13C=)
c.822-13C= (n.822-13C=)
c.1080-13C= (n.1080-13C=)
c.994-3459C= (n.994-3459C=)
c.782+4478C= (n.782+4478C=)
c.*208-13C= (n.*208-13C=)
c.*120-13C= (n.*120-13C=)
c.54-13C=
c.984-13C= (n.984-13C=)
c.1068-13C= (n.1068-13C=)
c.624-13C= (n.624-13C=)
c.983+906C= (n.983+906C=)
17g.7669704A>GCA656753384TP53c.1101-14T>C (n.1101-14T>C)
c.705-14T>C (n.705-14T>C)
c.822-14T>C (n.822-14T>C)
c.1080-14T>C (n.1080-14T>C)
c.994-3460T>C (n.994-3460T>C)
c.782+4477T>C (n.782+4477T>C)
c.*208-14T>C (n.*208-14T>C)
c.*120-14T>C (n.*120-14T>C)
c.54-14T>C
c.984-14T>C (n.984-14T>C)
c.1068-14T>C (n.1068-14T>C)
c.624-14T>C (n.624-14T>C)
c.983+905T>C (n.983+905T>C)
COSMIC
17g.7669705A>GCA2573154466TP53c.1101-15T>C (n.1101-15T>C)
c.705-15T>C (n.705-15T>C)
c.822-15T>C (n.822-15T>C)
c.1080-15T>C (n.1080-15T>C)
c.994-3461T>C (n.994-3461T>C)
c.782+4476T>C (n.782+4476T>C)
c.*208-15T>C (n.*208-15T>C)
c.*120-15T>C (n.*120-15T>C)
c.54-15T>C
c.984-15T>C (n.984-15T>C)
c.1068-15T>C (n.1068-15T>C)
c.624-15T>C (n.624-15T>C)
c.983+904T>C (n.983+904T>C)
ClinVar dbSNP gnomAD v4
17g.7669706G>TCA2635879111TP53c.1101-16C>A (n.1101-16C>A)
c.705-16C>A (n.705-16C>A)
c.822-16C>A (n.822-16C>A)
c.1080-16C>A (n.1080-16C>A)
c.994-3462C>A (n.994-3462C>A)
c.782+4475C>A (n.782+4475C>A)
c.*208-16C>A (n.*208-16C>A)
c.*120-16C>A (n.*120-16C>A)
c.54-16C>A
c.984-16C>A (n.984-16C>A)
c.1068-16C>A (n.1068-16C>A)
c.624-16C>A (n.624-16C>A)
c.983+903C>A (n.983+903C>A)
gnomAD v4
17g.7669707C=CA2245941111TP53c.1101-17G= (n.1101-17G=)
c.705-17G= (n.705-17G=)
c.822-17G= (n.822-17G=)
c.1080-17G= (n.1080-17G=)
c.994-3463G= (n.994-3463G=)
c.782+4474G= (n.782+4474G=)
c.*208-17G= (n.*208-17G=)
c.*120-17G= (n.*120-17G=)
c.54-17G=
c.984-17G= (n.984-17G=)
c.1068-17G= (n.1068-17G=)
c.624-17G= (n.624-17G=)
c.983+902G= (n.983+902G=)
17g.7669707C>GCA2245941112TP53c.1101-17G>C (n.1101-17G>C)
c.705-17G>C (n.705-17G>C)
c.822-17G>C (n.822-17G>C)
c.1080-17G>C (n.1080-17G>C)
c.994-3463G>C (n.994-3463G>C)
c.782+4474G>C (n.782+4474G>C)
c.*208-17G>C (n.*208-17G>C)
c.*120-17G>C (n.*120-17G>C)
c.54-17G>C
c.984-17G>C (n.984-17G>C)
c.1068-17G>C (n.1068-17G>C)
c.624-17G>C (n.624-17G>C)
c.983+902G>C (n.983+902G>C)
dbSNP
17g.7669707C>TCA2573154467TP53c.1101-17G>A (n.1101-17G>A)
c.705-17G>A (n.705-17G>A)
c.822-17G>A (n.822-17G>A)
c.1080-17G>A (n.1080-17G>A)
c.994-3463G>A (n.994-3463G>A)
c.782+4474G>A (n.782+4474G>A)
c.*208-17G>A (n.*208-17G>A)
c.*120-17G>A (n.*120-17G>A)
c.54-17G>A
c.984-17G>A (n.984-17G>A)
c.1068-17G>A (n.1068-17G>A)
c.624-17G>A (n.624-17G>A)
c.983+902G>A (n.983+902G>A)
ClinVar dbSNP
17g.7669708A>GCA2635879112TP53c.1101-18T>C (n.1101-18T>C)
c.705-18T>C (n.705-18T>C)
c.822-18T>C (n.822-18T>C)
c.1080-18T>C (n.1080-18T>C)
c.994-3464T>C (n.994-3464T>C)
c.782+4473T>C (n.782+4473T>C)
c.*208-18T>C (n.*208-18T>C)
c.*120-18T>C (n.*120-18T>C)
c.54-18T>C
c.984-18T>C (n.984-18T>C)
c.1068-18T>C (n.1068-18T>C)
c.624-18T>C (n.624-18T>C)
c.983+901T>C (n.983+901T>C)
dbSNP gnomAD v4
17g.7669709G>ACA2733127243TP53c.1101-19C>T (n.1101-19C>T)
c.705-19C>T (n.705-19C>T)
c.822-19C>T (n.822-19C>T)
c.1080-19C>T (n.1080-19C>T)
c.994-3465C>T (n.994-3465C>T)
c.782+4472C>T (n.782+4472C>T)
c.*208-19C>T (n.*208-19C>T)
c.*120-19C>T (n.*120-19C>T)
c.54-19C>T
c.984-19C>T (n.984-19C>T)
c.1068-19C>T (n.1068-19C>T)
c.624-19C>T (n.624-19C>T)
c.983+900C>T (n.983+900C>T)
dbSNP
17g.7669709G>CCA2733127244TP53c.1101-19C>G (n.1101-19C>G)
c.705-19C>G (n.705-19C>G)
c.822-19C>G (n.822-19C>G)
c.1080-19C>G (n.1080-19C>G)
c.994-3465C>G (n.994-3465C>G)
c.782+4472C>G (n.782+4472C>G)
c.*208-19C>G (n.*208-19C>G)
c.*120-19C>G (n.*120-19C>G)
c.54-19C>G
c.984-19C>G (n.984-19C>G)
c.1068-19C>G (n.1068-19C>G)
c.624-19C>G (n.624-19C>G)
c.983+900C>G (n.983+900C>G)
dbSNP
17g.7669709G>TCA2635879113TP53c.1101-19C>A (n.1101-19C>A)
c.705-19C>A (n.705-19C>A)
c.822-19C>A (n.822-19C>A)
c.1080-19C>A (n.1080-19C>A)
c.994-3465C>A (n.994-3465C>A)
c.782+4472C>A (n.782+4472C>A)
c.*208-19C>A (n.*208-19C>A)
c.*120-19C>A (n.*120-19C>A)
c.54-19C>A
c.984-19C>A (n.984-19C>A)
c.1068-19C>A (n.1068-19C>A)
c.624-19C>A (n.624-19C>A)
c.983+900C>A (n.983+900C>A)
gnomAD v4
17g.7669710G>ACA2733127247TP53c.1101-20C>T (n.1101-20C>T)
c.705-20C>T (n.705-20C>T)
c.822-20C>T (n.822-20C>T)
c.1080-20C>T (n.1080-20C>T)
c.994-3466C>T (n.994-3466C>T)
c.782+4471C>T (n.782+4471C>T)
c.*208-20C>T (n.*208-20C>T)
c.*120-20C>T (n.*120-20C>T)
c.54-20C>T
c.984-20C>T (n.984-20C>T)
c.1068-20C>T (n.1068-20C>T)
c.624-20C>T (n.624-20C>T)
c.983+899C>T (n.983+899C>T)
ClinVar dbSNP
17g.7669710G>TCA2733127249TP53c.1101-20C>A (n.1101-20C>A)
c.705-20C>A (n.705-20C>A)
c.822-20C>A (n.822-20C>A)
c.1080-20C>A (n.1080-20C>A)
c.994-3466C>A (n.994-3466C>A)
c.782+4471C>A (n.782+4471C>A)
c.*208-20C>A (n.*208-20C>A)
c.*120-20C>A (n.*120-20C>A)
c.54-20C>A
c.984-20C>A (n.984-20C>A)
c.1068-20C>A (n.1068-20C>A)
c.624-20C>A (n.624-20C>A)
c.983+899C>A (n.983+899C>A)
dbSNP
17g.7669714_7669716delCA2576230449TP53c.1101-22_1101-20del (n.1101-22_1101-20del)
c.705-22_705-20del (n.705-22_705-20del)
c.822-22_822-20del (n.822-22_822-20del)
c.1080-22_1080-20del (n.1080-22_1080-20del)
c.994-3468_994-3466del (n.994-3468_994-3466del)
c.782+4469_782+4471del (n.782+4469_782+4471del)
c.*208-22_*208-20del (n.*208-22_*208-20del)
c.*120-22_*120-20del (n.*120-22_*120-20del)
c.54-22_54-20del
c.984-22_984-20del (n.984-22_984-20del)
c.1068-22_1068-20del (n.1068-22_1068-20del)
c.624-22_624-20del (n.624-22_624-20del)
c.983+897_983+899del (n.983+897_983+899del)
gnomAD v3 gnomAD v4

Number of alleles fetched