All variants affecting transcripts

9508 entries on 96 pages. Showing entries 1 - 100.
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AscendingGene     

Transcript     

Chr     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     

Effect     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
AIP NM_003977.3 11 Unknown g.67490352C>A - AIP_000001 - - Lina Nuñez-Private Practice -/- 5 c.682C>A p.(Gln228Lys) Homo no r.(?) -
ALK NM_004304.4 2 Unknown g.29225518C>T - ALK_000001 - - Marina Antelo-Hospital Udaondo ?/? 19 c.3115G>A p.(Val1039Met) Hetero MSH6 r.(?) -
ALK NM_004304.4 2 Unknown g.29320797T>C - ALK_000002 - - Lina Nuñez-Private Practice -/- 7 c.1500A>G p.(=) Homo no r.(=) -
ALK NM_004304.4 2 Unknown g.29232401A>G - ALK_000003 - - Lina Nuñez-Private Practice -/- 15 c.2535T>C p.(=) Homo no r.(=) -
ALK NM_004304.4 2 Unknown g.29920633G>C - ALK_000004 - - Lina Nuñez-Private Practice -/- 1 c.27C>G p.(=) Homo no r.(=) -
ALK NM_004304.4 2 Unknown g.29226953C>T - ALK_000005 - - Lina Nuñez-Private Practice -/- 18 c.3036G>A p.(=) Hetero no r.(=) -
ALK NM_004304.4 2 Unknown g.29222592G>T - ALK_000006 - - Lina Nuñez-Private Practice -/- 21 c.3375C>A p.(=) Hetero no r.(=) -
ALK NM_004304.4 2 Unknown g.29193928G>A - ALK_000007 - - Lina Nuñez-Private Practice -/- 28i c.4165-6C>T p.(=) Hetero no r.(=) -
ALK NM_004304.4 2 Unknown g.29193749G>A - ALK_000008 - - Lina Nuñez-Private Practice -/- 29 c.4338C>T p.(=) Hetero no r.(=) -
ALK NM_004304.4 2 Unknown g.29193706T>C - ALK_000009 - - Lina Nuñez-Private Practice -/- 29 c.4381A>G p.(Ile1461Val) Homo no r.(?) -
ALK NM_004304.4 2 Unknown g.29193615T>C - ALK_000010 - - Lina Nuñez-Private Practice -/- 29 c.4472A>G p.(Lys1491Arg) Hetero no r.(?) -
ALK NM_004304.4 2 Unknown g.29193500G>C - ALK_000011 - - Lina Nuñez-Private Practice -/- 29 c.4587C>G p.(Asp1529Glu) Homo no r.(?) -
ALK NM_004304.4 2 Unknown g.29717663A>T - ALK_000012 - - Lina Nuñez-Private Practice -/- 2 c.702T>A p.(=) Homo no r.(=) -
ALK NM_004304.4 2 Unknown g.29233668A>G - ALK_000013 - - Jesica Ramirez-Hospital Central de Mendoza ?/? 14 c.2384T>C p.(Ile795Thr) Hetero no r.(?) -
ALK NM_004304.4 2 Unknown g.29296956A>T - ALK_000014 rs761184891 - Pablo Kalfayan-Hospital Italiano ?/? 9 c.1749T>A (p.His583Gln) Hetero no r.(1749u>a) -
ALK NM_004304.4 2 Unknown g.29193849A>C - ALK_000015 rs779318085 - Pablo Kalfayan-Hospital Italiano ?/? 29 c.4238T>G (p.Val1413Gly) Hetero no r.(4238u>g) -
ALK NM_004304.4 2 Unknown g.29296948G>T - ALK_000016 - - Cecilia Montes-IMGO ?/? 9 c.1757C>A (p.Ala586Asp) Hetero no r.(1757c>a) -
ALK NM_004304.4 2 Unknown g.29197575C>T - ALK_000017 rs573049471 - Cecilia Montes-IMGO ?/? 27 c.4040G>A p.(Arg1347Gln) Hetero no r.(4040g>a) -
ALK NM_004304.4 2 Unknown g.29223364G>A - ALK_000018 - - Yolanda Isabel Medina - Hospital Juan D. Perón ?/? 20 c.3337C>T (p.Arg1113Trp) Hetero no r.(3337c>u) -
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 Laura Gonzalez-Hospital Italiano -/- 1i c.136-53T>C p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112828864G>A - APC_000007 - - Maria Laura Gonzalez-Hospital Italiano -/- 13 c.1635G>A p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112840073G>A - APC_000008 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.4479G>A p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112840628G>A - APC_000009 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.5034G>A p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112840862T>G - APC_000013 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.5268T>G p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112841059T>A - APC_000002 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.5465T>A p.(Val1822Asp) Hetero no r.(?) -
APC NM_000038.5 5 Unknown g.112841474G>A - APC_000011 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.5880G>A p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112844212C>A - APC_000016 - - Maria Laura Gonzalez-Hospital Italiano -/- 3'UTR c.*86C>A p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112827157T>C - APC_000006 - - Maria Laura Gonzalez-Hospital Italiano -/- 11 c.1458T>C p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112828864G>A - APC_000007 - - Maria Laura Gonzalez-Hospital Italiano -/- 13 c.1635G>A p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112840073G>A - APC_000008 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.4479G>A p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112840628G>A - APC_000009 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.5034G>A p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112840862T>G - APC_000013 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.5268T>G p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112841059T>A - APC_000002 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.5465T>A p.(Val1822Asp) Homo no r.(?) -
APC NM_000038.5 5 Unknown g.112841474G>A - APC_000011 - - Maria Laura 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 - APC_000018 - - Alejandra Mampel-COIR -/- 14i c.1958+8T>C p.(=) Hetero no r.(=) RECLASSIFIED JUNE 2019
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 - APC_000020 - NM_001127511.2: c.-31T>G Alejandra Mampel-COIR -/- 5'UTR c.-30257T>G p.(=) Hetero no r.(=) RECLASSIFIED OCTOBER 2017
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 Laura Gonzalez-Hospital Italiano -/- 1i c.136-53T>C p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112828864G>A - APC_000007 - - Maria Laura Gonzalez-Hospital Italiano -/- 13 c.1635G>A p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112840073G>A - APC_000008 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.4479G>A p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112840628G>A - APC_000009 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.5034G>A p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112840862T>G - APC_000013 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.5268T>G p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112841059T>A - APC_000002 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.5465T>A p.(Val1822Asp) Homo no r.(?) -
APC NM_000038.5 5 Unknown g.112841474G>A - APC_000011 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.5880G>A p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112842415C>T - APC_000021 - - Maria Laura Gonzalez-Hospital Italiano ?/- 15 c.6821C>T p.(Ala2274Val) Hetero no r.(?) RECLASSIFIED JULY 2022
APC NM_000038.5 5 Unknown g.112844212C>A - APC_000016 - - Maria Laura Gonzalez-Hospital Italiano -/- 3'UTR c.*86C>A p.(=) Homo no r.(=) -
APC NM_000038.5 5 Unknown g.112838114dup - APC_000022 - - Maria Laura Gonzalez-Hospital Italiano +/+? 15 c.2520dup p.(Asp842Argfs*2) Hetero N/A r.(?) RECLASSIFIED JULY 2022
APC NM_000038.5 5 Unknown g.112827157T>C - APC_000006 - - Maria Laura Gonzalez-Hospital Italiano -/- 11 c.1458T>C p.(=) Homo APC r.(=) -
APC NM_000038.5 5 Unknown g.112828864G>A - APC_000007 - - Maria Laura Gonzalez-Hospital Italiano -/- 13 c.1635G>A p.(=) Homo APC r.(=) -
APC NM_000038.5 5 Unknown g.112840073G>A - APC_000008 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.4479G>A p.(=) Homo APC r.(=) -
APC NM_000038.5 5 Unknown g.112840628G>A - APC_000009 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.5034G>A p.(=) Homo APC r.(=) -
APC NM_000038.5 5 Unknown g.112840862T>G - APC_000013 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.5268T>G p.(=) Homo APC r.(=) -
APC NM_000038.5 5 Unknown g.112841059T>A - APC_000002 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.5465T>A p.(Val1822Asp) Homo APC r.(?) -
APC NM_000038.5 5 Unknown g.112841474G>A - APC_000011 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.5880G>A p.(=) Homo APC r.(=) -
APC NM_000038.5 5 Unknown g.112839920T>A - APC_000023 - - Gonzalo Tabares-CEMA -?/- 15 c.4326T>A p.(=) Hetero no r.(=) RECLASSIFIED JUNE 2019
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 - APC_000027 - - Maria Laura Gonzalez-Hospital Italiano ?/? 15 c.4361A>T p.(Lys1454Ile) Hetero no r.(?) RECLASSIFIED JUNE 2019
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.(?) RECLASSIFIED JULY 2022
APC NM_000038.5 5 Unknown g.112839954A>G - APC_000029 - - Laura Vargas Roig-IMBECU -?/- 15 c.4360A>G p.(Lys1454Glu) Hetero no r.(?) RECLASSIFIED JULY 2022
APC NM_000038.5 5 Unknown g.112840487T>C - APC_000030 - - Laura Vargas Roig-IMBECU -?/- 15 c.4893T>C p.(=) Hetero no r.(=) -
APC NM_000038.5 5 Unknown g.112819026C>T - APC_000031 - - Pablo Kalfayan-Hospital Italiano +/+ 10 c.994C>T p.(Arg332*) Hetero N/A r.(?) -
APC NM_000038.5 5 Unknown g.112839514T>A - APC_000032 - - Lina Nuñez-Hospital Alemán +?/+? 16 c.3920T>A p.(Ile1307Lys) Hetero no r.(?) RISK FACTOR
APC NM_000038.5 5 Unknown g.112839514T>A - APC_000032 - - Lina Nuñez-Private Practice +?/+? 16 c.3920T>A p.(Ile1307Lys) Homo no r.(?) RISK FACTOR
APC NM_000038.5 5 Unknown g.112838777_112838781del - APC_000033 - - Maria Laura Gonzalez-Hospital Italiano +/+ 15 c.3183_3187del p.(Gln1062*) Hetero N/A r.(?) -
APC NM_000038.5 5 Unknown g.112827157T>C - APC_000006 - - Maria Laura Gonzalez-Hospital Italiano -/- 11 c.1458T>C p.(=) Homo APC r.(=) -
APC NM_000038.5 5 Unknown g.112828864G>A - APC_000007 - - Maria Laura Gonzalez-Hospital Italiano -/- 13 c.1635G>A p.(=) Homo APC r.(=) -
APC NM_000038.5 5 Unknown g.112839920T>A - APC_000023 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.4326T>A p.(=) Hetero APC r.(=) -
APC NM_000038.5 5 Unknown g.112840073G>A - APC_000008 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.4479G>A p.(=) Homo APC r.(=) -
APC NM_000038.5 5 Unknown g.112840628G>A - APC_000009 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.5034G>A p.(=) Homo APC r.(=) -
APC NM_000038.5 5 Unknown g.112840862T>G - APC_000013 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.5268T>G p.(=) Homo APC r.(=) -
APC NM_000038.5 5 Unknown g.112841059T>A - APC_000002 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.5465T>A p.(Val1822Asp) Homo APC r.(?) -
APC NM_000038.5 5 Unknown g.112841474G>A - APC_000011 - - Maria Laura Gonzalez-Hospital Italiano -/- 15 c.5880G>A p.(=) Homo APC r.(=) -
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