Unique variants in gene XPC

Information The variants shown are described using the transcript reference sequence.

73 entries on 1 page. Showing entries 1 - 73.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
?/? 1 - c.-46G>C r.(=) p.(=) g.14220114C>G - XPC_000035 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.-44C>A r.(=) p.(=) g.14220112G>T - XPC_000049 - - Germline - - - - Despoina Kalfakakou
?/? 3 - c.26G>T r.(?) p.(Gly9Val) g.14220043C>A - XPC_000037 rs376802950 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.43G>A r.(?) p.(Glu15Lys) g.14220026C>T - XPC_000034 rs1340359519 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.102G>A r.(=) p.(=) g.14219967C>T - XPC_000054 rs72561774 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.103_103+1insAGG r.? p.? g.14219965_14219966insCCT - XPC_000030 - - Germline - - - - Despoina Kalfakakou
?/? 18 - c.103+34C>G r.(=) p.(=) g.14219932G>C - XPC_000010 - - Germline - - - - Despoina Kalfakakou
?/? 3 - c.191G>C r.(?) p.(Gly64Ala) g.14214475C>G - XPC_000064 rs183478541 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.193G>A r.(?) p.(Gly65Ser) g.14214473C>T - XPC_000009 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.227C>T r.(?) p.(Ala76Val) g.14214439G>A - XPC_000061 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.257A>G r.(?) p.(Lys86Arg) g.14214409T>C - XPC_000072 rs3731063 - Germline - - - - Despoina Kalfakakou
-/- 43 - c.303C>T r.(=) p.(=) g.14212047G>A - XPC_000008 rs41545713 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.356A>G r.(?) p.(Asn119Ser) g.14211994T>C - XPC_000014 rs1030223497 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.405+41G>A r.(=) p.(=) g.14211904C>T - XPC_000018 - - Germline - - - - Despoina Kalfakakou
?/? 3 - c.406-138A>C r.(=) p.(=) g.14209914T>G - XPC_000045 - - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.406-54C>T r.(=) p.(=) g.14209830G>A - XPC_000053 rs755825264 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.407C>T r.(?) p.(Ala136Val) g.14209775G>A - XPC_000007 rs770955020 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.408G>A r.(=) p.(=) g.14209774C>T - XPC_000046 rs749416355 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.425+26C>G r.(=) p.(=) g.14209731G>C - XPC_000006 - - Germline - - - - Despoina Kalfakakou
?/? 3 - c.426-36C>T r.(=) p.(=) g.14208789G>A - XPC_000017 - - Germline - - - - Despoina Kalfakakou
?/? 8 - c.426-34C>G r.(=) p.(=) g.14208787G>C - XPC_000016 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.460C>T r.(?) p.(Arg154Trp) g.14208719G>A - XPC_000070 rs754782134 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.461G>A r.(?) p.(Arg154Gln) g.14208718C>T - XPC_000063 rs575874780 - Germline - - - - Despoina Kalfakakou
?/? 5 - c.510+49A>G r.(=) p.(=) g.14208620T>C - XPC_000036 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.511-39T>C r.(=) p.(=) g.14207124A>G - XPC_000058 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.570A>G r.(=) p.(=) g.14207026T>C - XPC_000043 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.583A>G r.(?) p.(Ile195Val) g.14207013T>C - XPC_000013 rs531251219 - Germline - - - - Despoina Kalfakakou
?/? 6 - c.602C>A r.(?) p.(Pro201Gln) g.14206994G>T - XPC_000005 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.668+11C>T r.(=) p.(=) g.14206917G>A - XPC_000044 - - Germline - - - - Despoina Kalfakakou
?/? 11 - c.668+48G>A r.(=) p.(=) g.14206880C>T - XPC_000015 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.751G>C r.(?) p.(Ala251Pro) g.14206351C>G - XPC_000041 rs778281904 - Germline - - - - Despoina Kalfakakou
-/-, ./. 7 - c.761C>G r.(?) p.(Ser254Cys) g.14206341G>C - XPC_000004 rs184879571 - Germline - - - - Despoina Kalfakakou, Stevi Xera
?/? 3 - c.789+15C>T r.(=) p.(=) g.14206298G>A - XPC_000033 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.840G>A r.(=) p.(=) g.14201280C>T - XPC_000073 rs955651388 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.884A>G r.(?) p.(Lys295Arg) g.14200388T>C - XPC_000060 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.889C>A r.(?) p.(Pro297Thr) g.14200383G>T - XPC_000029 - - Germline - - - - Despoina Kalfakakou
-/- 3 - c.890C>A r.(?) p.(Pro297His) g.14200382G>T - XPC_000028 rs74737358 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.893C>G r.(?) p.(Ser298Cys) g.14200379G>C - XPC_000057 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.904T>C r.(=) p.(=) g.14200368A>G - XPC_000027 rs1479935789 - Germline - - - - Despoina Kalfakakou
?/? 5 - c.1066C>T r.(?) p.(Arg356Trp) g.14200206G>A - XPC_000026 rs121965090 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1270G>A r.(?) p.(Glu424Lys) g.14200002C>T - XPC_000003 rs754197041 - Germline - - - - Despoina Kalfakakou
-/- 29 - c.1332G>T r.(?) p.(Lys444Asn) g.14199940C>A - XPC_000002 rs182616621 - Germline - - - - Despoina Kalfakakou
-/- 3 - c.1505A>G r.(?) p.(Glu502Gly) g.14199767T>C - XPC_000025 rs563236303 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1552C>A r.(?) p.(Pro518Thr) g.14199720G>T - XPC_000040 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1556T>A r.(?) p.(Leu519Gln) g.14199716A>T - XPC_000071 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1572C>T r.(=) p.(=) g.14199700G>A - XPC_000047 rs778371731 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.1623C>A r.(=) p.(=) g.14199649G>T - XPC_000065 rs3731131 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1658T>C r.(?) p.(Met553Thr) g.14199614A>G - XPC_000056 rs1574961324 - Germline - - - - Despoina Kalfakakou
?/? 4 - c.1670G>A r.(?) p.(Arg557His) g.14199602C>T - XPC_000024 rs147900621 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1701C>T r.(=) p.(=) g.14199571G>A - XPC_000052 rs756484727 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1712G>A r.(?) p.(Arg571Lys) g.14199560C>T - XPC_000042 rs768979551 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1840C>T r.(?) p.(Arg614Trp) g.14197917G>A - XPC_000001 rs1398304875 - Germline - - - - Despoina Kalfakakou
-/- 3 - c.1917C>T r.(=) p.(=) g.14197840G>A - XPC_000023 rs2228004 - Germline - - - - Despoina Kalfakakou
?/? 10 - c.2004+17G>T r.(=) p.(=) g.14193818C>A - XPC_000032 - - Germline - - - - Despoina Kalfakakou
?/? 16 - c.2004+18_2004+19insG r.(=) p.(=) g.14193816_14193817insC - XPC_000022 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2134G>A r.(?) p.(Gly712Arg) g.14190319C>T - XPC_000069 rs772673679 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2139+19G>T r.(=) p.(=) g.14190295C>A - XPC_000050 - - Germline - - - - Despoina Kalfakakou
?/? 3 - c.2140-37C>A r.(=) p.(=) g.14190268G>T - XPC_000039 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2140-8C>T r.(=) p.(=) g.14190239G>A - XPC_000066 rs777883158 - Germline - - - - Despoina Kalfakakou
./., ?/? 4 - c.2143C>A r.(?) p.(Pro715Thr) g.14190228G>T - XPC_000021 rs766223201 - Germline - - - - Despoina Kalfakakou, Stevi Xera
?/? 1 - c.2154G>C r.(?) p.(Glu718Asp) g.14190217C>G - XPC_000051 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2166G>A r.(=) p.(=) g.14190205C>T - XPC_000048 rs1372339080 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2239C>T r.(?) p.(Arg747Cys) g.14190132G>A - XPC_000031 rs756757380 - Germline - - - - Despoina Kalfakakou
?/? 5 - c.2293G>A r.(?) p.(Gly765Ser) g.14190078C>T - XPC_000011 rs200148127 - Germline - - - - Despoina Kalfakakou
?/? 7 - c.2309+12del r.(=) p.(=) g.14190050del - XPC_000020 - - Germline - - - - Despoina Kalfakakou
./., ?/? 4 - c.2326G>A r.(?) p.(Val776Ile) g.14189485C>T - XPC_000019 rs371576722 - Germline - - - - Despoina Kalfakakou, Stevi Xera
-/- 6 - c.2385T>C r.(=) p.(=) g.14189426A>G - XPC_000038 rs201597537 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2403+6C>T r.(=) p.(=) g.14189402G>A - XPC_000055 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2445C>T r.(=) p.(=) g.14188838G>A - XPC_000059 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2477G>A r.(?) p.(Arg826His) g.14188806C>T - XPC_000068 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2511C>G r.(=) p.(=) g.14187642G>C - XPC_000062 rs770687765 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2537C>A r.(?) p.(Ser846Tyr) g.14187616G>T - XPC_000012 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2671A>C r.(?) p.(Lys891Gln) g.14187482T>G - XPC_000067 rs3731177 - Germline - - - - Despoina Kalfakakou
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