View all variants affecting transcripts

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AscendingGene     

Transcript     

Chr     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Owner     

Effect     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     
APC NM_000038.5 5 Unknown g.112775715_112775718delATAG - APC_000012 Alejandra Mampel-Hospital Universitario de Mendoza +/+ 5 c.509_512delATAG p.(Asp170Valfs*4) Hetero N/A r.(?) -
APC NM_000038.5 5 Unknown g.112827157T>C - APC_000006 Alejandra Mampel-Hospital Universitario de Mendoza -/- 11 c.1458T>C p.(=) Hetero APC r.(=) -
APC NM_000038.5 5 Unknown g.112828864G>A - APC_000007 Alejandra Mampel-Hospital Universitario de Mendoza -/- 13 c.1635G>A p.(=) Hetero APC r.(=) -
APC NM_000038.5 5 Unknown g.112775625delA - APC_000005 Alejandra Mampel-Hospital Universitario de Mendoza -/- 4i c.423-4delA p.? Hetero APC r.? -
APC NM_000038.5 5 Unknown g.112840073G>A - APC_000008 Alejandra Mampel-Hospital Universitario de Mendoza -/- 15 c.4479G>A p.(=) Hetero APC r.(=) -
APC NM_000038.5 5 Unknown g.112840628G>A - APC_000009 Alejandra Mampel-Hospital Universitario de Mendoza -/- 15 c.5034G>A p.(=) Hetero APC r.(=) -
APC NM_000038.5 5 Unknown g.112840862T>G - APC_000013 Alejandra Mampel-Hospital Universitario de Mendoza -/- 15 c.5268T>G p.(=) Hetero APC r.(=) -
APC NM_000038.5 5 Unknown g.112841059T>A - APC_000002 Alejandra Mampel-Hospital Universitario de Mendoza -/- 15 c.5465T>A p.(Val1822Asp) Hetero APC r.(?) -
APC NM_000038.5 5 Unknown g.112841474G>A - APC_000011 Alejandra Mampel-Hospital Universitario de Mendoza -/- 15 c.5880G>A p.(=) Hetero APC r.(=) -
APC NM_000038.5 5 Unknown g.112841569C>T - APC_000014 Lina Nuñez-Private Practice ?/. 16 c.5975C>T p.(Pro1992Leu) Unknown no r.(?) -
APC NM_000038.5 5 Unknown g.112766273T>C - APC_000015 Maria Gonzalez-Hospital Italiano -/- 1i c.136-53T>C p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112828864G>A - APC_000007 Maria Gonzalez-Hospital Italiano -/- 13 c.1635G>A p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112840073G>A - APC_000008 Maria Gonzalez-Hospital Italiano -/- 15 c.4479G>A p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112840628G>A - APC_000009 Maria Gonzalez-Hospital Italiano -/- 15 c.5034G>A p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112840862T>G - APC_000013 Maria Gonzalez-Hospital Italiano -/- 15 c.5268T>G p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112841059T>A - APC_000002 Maria Gonzalez-Hospital Italiano -/- 15 c.5465T>A p.(Val1822Asp) Hetero no r.(?) -
APC NM_000038.5 5 Unknown g.112841474G>A - APC_000011 Maria Gonzalez-Hospital Italiano -/- 15 c.5880G>A p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112844212C>A - APC_000016 Maria Gonzalez-Hospital Italiano -/- 3'UTR c.*86C>A p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112827157T>C - APC_000006 Maria Gonzalez-Hospital Italiano -/- 11 c.1458T>C p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112828864G>A - APC_000007 Maria Gonzalez-Hospital Italiano -/- 13 c.1635G>A p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112840073G>A - APC_000008 Maria Gonzalez-Hospital Italiano -/- 15 c.4479G>A p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112840628G>A - APC_000009 Maria Gonzalez-Hospital Italiano -/- 15 c.5034G>A p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112840862T>G - APC_000013 Maria Gonzalez-Hospital Italiano -/- 15 c.5268T>G p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112841059T>A - APC_000002 Maria Gonzalez-Hospital Italiano -/- 15 c.5465T>A p.(Val1822Asp) Homo no r.(?) -
APC NM_000038.5 5 Unknown g.112841474G>A - APC_000011 Maria Gonzalez-Hospital Italiano -/- 15 c.5880G>A p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112775613A>T - APC_000017 Alejandra Mampel-COIR -/- 3i c.423-16A>T p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112827157T>C - APC_000006 Alejandra Mampel-COIR -/- 11 c.1458T>C p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112828864G>A - APC_000007 Alejandra Mampel-COIR -/- 13 c.1635G>A p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112835173T>C Reclassified June 2019 APC_000018 Alejandra Mampel-COIR -/- 14i c.1958+8T>C p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112840073G>A - APC_000008 Alejandra Mampel-COIR -/- 15 c.4479G>A p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112840628G>A - APC_000009 Alejandra Mampel-COIR -/- 15 c.5034G>A p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112840862T>G - APC_000013 Alejandra Mampel-COIR -/- 15 c.5268T>G p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112841059T>A - APC_000002 Alejandra Mampel-COIR -/- 15 c.5465T>A p.(Val1822Asp) Homo no r.(?) -
APC NM_000038.5 5 Unknown g.112841474G>A - APC_000011 Alejandra Mampel-COIR -/- 15 c.5880G>A p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112842552C>T - APC_000019 Alejandra Mampel-COIR ?/? 15 c.6958C>T p.(Pro2320Ser) Hetero no r.(?) -
APC NM_000038.5 5 Unknown g.112707687T>G Reclassified 9-oct-2017 APC_000020 Alejandra Mampel-COIR -/- 5'UTR c.-30257T>G p.(=) Hetero no r.(=) NM_001127511.2: c.-31T>G
APC NM_000038.5 5 Unknown g.112827157T>C - APC_000006 Pablo Kalfayan-CEMIC -/- 11 c.1458T>C p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112828864G>A - APC_000007 Pablo Kalfayan-CEMIC -/- 13 c.1635G>A p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112840073G>A - APC_000008 Pablo Kalfayan-CEMIC -/- 15 c.4479G>A p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112840628G>A - APC_000009 Pablo Kalfayan-CEMIC -/- 15 c.5034G>A p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112840862T>G - APC_000013 Pablo Kalfayan-CEMIC -/- 15 c.5268T>G p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112841059T>A - APC_000002 Pablo Kalfayan-CEMIC -/- 15 c.5465T>A p.(Val1822Asp) Homo no r.(?) -
APC NM_000038.5 5 Unknown g.112841474G>A - APC_000011 Pablo Kalfayan-CEMIC -/- 15 c.5880G>A p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112766273T>C - APC_000015 Maria Gonzalez-Hospital Italiano -/- 1i c.136-53T>C p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112828864G>A - APC_000007 Maria Gonzalez-Hospital Italiano -/- 13 c.1635G>A p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112840073G>A - APC_000008 Maria Gonzalez-Hospital Italiano -/- 15 c.4479G>A p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112840628G>A - APC_000009 Maria Gonzalez-Hospital Italiano -/- 15 c.5034G>A p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112840862T>G - APC_000013 Maria Gonzalez-Hospital Italiano -/- 15 c.5268T>G p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112841059T>A - APC_000002 Maria Gonzalez-Hospital Italiano -/- 15 c.5465T>A p.(Val1822Asp) Homo no r.(?) -
APC NM_000038.5 5 Unknown g.112841474G>A - APC_000011 Maria Gonzalez-Hospital Italiano -/- 15 c.5880G>A p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112842415C>T - APC_000021 Maria Gonzalez-Hospital Italiano ?/-? 15 c.6821C>T p.(Ala2274Val) Hetero no r.(?) -
APC NM_000038.5 5 Unknown g.112844212C>A - APC_000016 Maria Gonzalez-Hospital Italiano -/- 3'UTR c.*86C>A p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112838114dupC - APC_000022 Maria Gonzalez-Hospital Italiano +/. 15 c.2520dupC p.(Asp842Argfs*2) Hetero N/A r.(?) -
APC NM_000038.5 5 Unknown g.112827157T>C - APC_000006 Maria Gonzalez-Hospital Italiano -/- 11 c.1458T>C p.(=) Homo APC r.(=) -
APC NM_000038.5 5 Unknown g.112828864G>A - APC_000007 Maria Gonzalez-Hospital Italiano -/- 13 c.1635G>A p.(=) Homo APC r.(=) -
APC NM_000038.5 5 Unknown g.112840073G>A - APC_000008 Maria Gonzalez-Hospital Italiano -/- 15 c.4479G>A p.(=) Homo APC r.(=) -
APC NM_000038.5 5 Unknown g.112840628G>A - APC_000009 Maria Gonzalez-Hospital Italiano -/- 15 c.5034G>A p.(=) Homo APC r.(=) -
APC NM_000038.5 5 Unknown g.112840862T>G - APC_000013 Maria Gonzalez-Hospital Italiano -/- 15 c.5268T>G p.(=) Homo APC r.(=) -
APC NM_000038.5 5 Unknown g.112841059T>A - APC_000002 Maria Gonzalez-Hospital Italiano -/- 15 c.5465T>A p.(Val1822Asp) Homo APC r.(?) -
APC NM_000038.5 5 Unknown g.112841474G>A - APC_000011 Maria Gonzalez-Hospital Italiano -/- 15 c.5880G>A p.(=) Homo APC r.(=) -
APC NM_000038.5 5 Unknown g.112839920T>A Reclassified June 2019 APC_000023 Gonzalo Tabares-CEMA -?/- 15 c.4326T>A p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112843098G>A - APC_000024 Laura Vargas Roig-IMBECU -/-? 15 c.7504G>A p.(Gly2502Ser) Hetero no r.(?) -
APC NM_000038.5 5 Unknown g.112841575A>T - APC_000025 Lina Nuñez-Private Practice ?/? 16 c.5981A>T p.(Asp1994Val) Hetero no r.(?) -
APC NM_000038.5 5 Unknown g.112839409C>G - APC_000026 Pablo Kalfayan-Hospital Italiano +/+ 15 c.3815C>G p.(Ser1272*) Hetero N/A r.(?) -
APC NM_000038.5 5 Unknown g.112839955A>T Reclassified June 2019 APC_000027 Maria Gonzalez-Hospital Italiano ?/? 15 c.4361A>T p.(Lys1454Ile) Hetero no r.(?) -
APC NM_000038.5 5 Unknown g.112843098G>A - APC_000024 Laura Vargas Roig-IMBECU -/-? 15 c.7504G>A p.(Gly2502Ser) Hetero no r.(?) -
APC NM_000038.5 5 Unknown g.112780865C>G - APC_000028 Laura Vargas Roig-IMBECU -?/-? 5 c.607C>G p.(Gln203Glu) Hetero no r.(?) -
APC NM_000038.5 5 Unknown g.112839954A>G - APC_000029 Laura Vargas Roig-IMBECU -?/? 15 c.4360A>G p.(Lys1454Glu) Hetero no r.(?) -
APC NM_000038.5 5 Unknown g.112840487T>C - APC_000030 Laura Vargas Roig-IMBECU -?/-? 15 c.4893T>C p.(=) Hetero no r.(=) -
ATM NM_000051.3 11 Unknown g.108243949delT - ATM_000001 Alejandra Mampel-Hospital Universitario de Mendoza -/-? 5i c.497-4delT p.? Hetero BRCA1 r.spl? -
ATM NM_000051.3 11 Unknown g.108271243delT - ATM_000002 Alejandra Mampel-Hospital Universitario de Mendoza -/-? 19i c.2922-8delT p.(=) Hetero BRCA1 r.(=) -
ATM NM_000051.3 11 Unknown g.108250698dupT - ATM_000003 Alejandra Mampel-Hospital Universitario de Mendoza -/- 9i c.1236-3dupT p.? Hetero BRCA1 r.spl? -
ATM NM_000051.3 11 Unknown g.108312440G>A - ATM_000004 Alejandra Mampel-Hospital Universitario de Mendoza -/- 40 c.5948G>A p.(Ser1983Asn) Homo BRCA1 r.(?) -
ATM NM_000051.3 11 Unknown g.108279482delT - ATM_000005 Lina Nuñez-Hospital Alemán -/-? 22i c.3285-9delT p.(=) Hetero no r.(=) -
ATM NM_000051.3 11 Unknown g.108304735G>A - ATM_000006 Lina Nuñez-Hospital Alemán -/-? 37 c.5557G>A p.(Asp1853Asn) Hetero no r.(?) -
ATM NM_000051.3 11 Unknown g.108365339G>A - ATM_000007 Alvaro Yanzi-Instituto San Marcos ?/? 63 c.9002G>A p.(Ser3001Asn) Hetero no r.(?) -
ATM NM_000051.3 11 Unknown g.108235816_108235820del - ATM_000008 Claudia Martin-Hospital Privado Centro Médico de Córdoba +?/+ 5 c.478_482del p.(Ser160Alafs*23) Hetero POLG r.(?) -
ATM NM_000051.3 11 Unknown g.108256340G>T - ATM_000009 Claudia Martin-Hospital Privado Centro Médico de Córdoba ?/? 14 c.2250G>T p.(Lys750Asn) Hetero ATM;POLG r.(?) -
ATM NM_000051.3 11 Unknown g.108271261T>C - ATM_000010 Laura Vargas Roig-IMBECU -/? 20 c.2932T>C p.(Ser978Pro) Hetero no r.(?) -
ATM NM_000051.3 11 Unknown g.108304735G>A - ATM_000006 Laura Vargas Roig-IMBECU -/-? 37 c.5557G>A p.(Asp1853Asn) Hetero no r.(?) -
ATM NM_000051.3 11 Unknown g.108304667T>C - ATM_000011 Alejandra Mampel-Hospital Universitario de Mendoza -/- 36i c.5497-8T>C p.(=) Hetero no r.(=) -
ATM NM_000051.3 11 Unknown g.108244860C>T - ATM_000012 Alejandra Mampel-Hospital Universitario de Mendoza -/-? 7 c.735C>T p.(=) Hetero no r.(=) -
ATM NM_000051.3 11 Unknown g.108227790A>G - ATM_000013 Gonzalo Tabares-CEMA -?/? 3 c.87A>G p.(=) Hetero no r.(=) -
ATM NM_000051.3 11 Unknown g.108251060G>A - ATM_000014 Gonzalo Tabares-CEMA ?/? 10 c.1595G>A p.(Cys532Tyr) Hetero no r.(?) -
ATM NM_000051.3 11 Unknown g.108244860C>T - ATM_000012 Gonzalo Tabares-CEMA -/-? 7 c.735C>T p.(=) Hetero no r.(=) -
ATM NM_000051.3 11 Unknown g.108326225G>A - ATM_000015 Rita Valdez-Hospital Alemán ?/? 47 c.6975G>A p.(=) Hetero no r.(=) -
ATM NM_000051.3 11 Unknown g.108272729C>G - ATM_000016 Gonzalo Tabares-CEMA -/- 24 c.3161C>G p.(Pro1054Arg) Hetero no r.(?) -
ATM NM_000051.3 11 Unknown g.108243949delT - ATM_000001 Gonzalo Tabares-CEMA -/-? 5i c.497-4delT p.? Hetero BRCA1 r.spl? -
ATM NM_000051.3 11 Unknown g.108250698dupT - ATM_000003 Gonzalo Tabares-CEMA -/- 9i c.1236-3dupT p.? Hetero BRCA1 r.spl? -
ATM NM_000051.3 11 Unknown g.108271243delT - ATM_000002 Gonzalo Tabares-CEMA -/-? 19i c.2922-8delT p.(=) Hetero BRCA1 r.(=) -
ATM NM_000051.3 11 Unknown g.108279482delT - ATM_000005 Gonzalo Tabares-CEMA -?/-? 22i c.3285-9delT p.(=) Hetero BRCA1 r.(=) -
ATM NM_000051.3 11 Unknown g.108304667T>C - ATM_000011 Gonzalo Tabares-CEMA -/- 36i c.5497-8T>C p.(=) Hetero BRCA1 r.(=) -
ATM NM_000051.3 11 Unknown g.108304735G>A - ATM_000006 Gonzalo Tabares-CEMA -/-? 37 c.5557G>A p.(Asp1853Asn) Hetero BRCA1 r.(?) -
ATM NM_000051.3 11 Unknown g.108312440G>A - ATM_000004 Gonzalo Tabares-CEMA -/- 40 c.5948G>A p.(Ser1983Asn) Homo BRCA1 r.(?) -
ATM NM_000051.3 11 Unknown g.108250698delT - ATM_000017 Gonzalo Tabares-CEMA -/- 9i c.1236-3delT p.? Hetero BRCA1 r.spl? -
ATM NM_000051.3 11 Unknown g.108292760C>T - ATM_000018 Gonzalo Tabares-CEMA -/-? 30 c.4578C>T p.(=) Hetero no r.(=) -
ATM NM_000051.3 11 Unknown g.108272729C>G - ATM_000016 Gonzalo Tabares-CEMA -/- 24 c.3161C>G p.(Pro1054Arg) Hetero no r.(?) -
ATM NM_000051.3 11 Unknown g.108243949delT - ATM_000001 Gonzalo Tabares-CEMA -/-? 5i c.497-4delT p.? Hetero no r.spl? -
ATM NM_000051.3 11 Unknown g.108250698dupT - ATM_000003 Gonzalo Tabares-CEMA -/- 9i c.1236-3dupT p.? Hetero no r.spl? -
ATM NM_000051.3 11 Unknown g.108271243delT - ATM_000002 Gonzalo Tabares-CEMA -/-? 19i c.2922-8delT p.(=) Hetero no r.(=) -
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