View all variants affecting transcripts

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AscendingGene     

Transcript     

Effect     

Exon     

DNA change (cDNA)     

InSiGHT Class     

Published as     

RNA change     

Protein     

Splicing/transcript expression     

Chr     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Owner     
APC NM_000038.5 ?/. 15 c.5603A>G - - r.(?) p.(Asp1868Gly) - 5 Unknown g.112176894A>G - APC_000002 - - Germline (inherited) ? Esther Sarasola
APC NM_000038.5 ?/. 15 c.6127A>G - - r.(?) p.(Ile2043Val) - 5 Unknown g.112177418A>G - APC_000003 - - Unknown ? Esther Sarasola
EPCAM NM_002354.2 ?/. 6 c.583C>G - - NA p.Leu195Val - 2 Unknown NA - EPCAM_000001 - - Germline (inherited) - Dominguez-Valentin M
EPCAM NM_002354.2 +/. 5i c.556-14A>G - - r.(=) p.(=) - 2 Both (homozygous) g.47606078A>G Copy of Trujillano submitted to LOVD shared database chr2_001647 - - Germline (inherited) - LOVD_Shared
EPCAM NM_002354.2 +/. 2i_9_ c.(184+1_185-1)_(*415_?)del - - r.? p.? - 2 Unknown g.(47600710_47600946)_(47710089_?)del {microatt:1003310, Desiree du Sart} chr2_001648 - - Germline (inherited) - InSiGHT group
EPCAM NM_002354.2 +/. 4i c.491+1G>A - - r.426_491del p.Trp143_Thr164del - 2 Both (homozygous) g.47602439G>A Sivagnanam 2008 chr2_001649 - SNP homozygosity mapping; RNA duodenal; IHC intestinal tissue EPCAM decreased Germline (inherited) - Johan den Dunnen
EPCAM NM_002354.2 +/. 5i_9_ c.555+926_*14226del - - r.556_*405delinsNM_000251.2:c.212_*272 p.Tyr186Glufs*13 - 2 Parent #1 g.47605142_47627978del Ligtenberg 2009 chr2_001650 - linked family, 22.8 Kb deletion; fusion transcript EPCAM/MSH2; MSH2 promoter methylation; haplotype differs from FamHK-A Germline (inherited) yes Johan den Dunnen
EPCAM NM_002354.2 +/. 5i_9_ c.555+926_*14226del - - r.556_*405delinsNM_000251.2:c.212_*272 p.Tyr186Glufs*13 - 2 Parent #1 g.47605142_47627978del Ligtenberg 2009 chr2_001650 - haplotype differs from FamHK-A; fusion transcript EPCAM/MSH2 Germline (inherited) - Johan den Dunnen
EPCAM NM_002354.2 +/. 7i_9_ c.859-1462_*1999del - - r.[859_*405delinsNM_000251.2:c.212_*272, 859_*405delinsNM_000251.2:c.-4237_-4127ins212_*272] p.[Val287GlufsX13, Val287_Ala314delins37insMSH2:Ala72_Thr934] - 2 Parent #1 g.47610843_47615751del Ligtenberg 2009 chr2_001651 - 4909 bp deletion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes; fusion transcript EPCAM/MSH2; MSH2 variants in tumor Germline (inherited) yes Johan den Dunnen
EPCAM NM_002354.2 +/. 7i_9_ c.859-1462_*1999del - - r.[859_*405delinsNM_000251.2:c.212_*272, 859_*405delinsNM_000251.2:c.-4237_-4127ins212_*272] p.[Val287GlufsX13, Val287_Ala314delins37insMSH2:Ala72_Thr934] - 2 Parent #1 g.47610843_47615751del Ligtenberg 2009 chr2_001651 - 4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes Germline (inherited) yes Johan den Dunnen
EPCAM NM_002354.2 +/. 7i_9_ c.859-1462_*1999del - - r.[859_*405delinsNM_000251.2:c.212_*272, 859_*405delinsNM_000251.2:c.-4237_-4127ins212_*272] p.[Val287GlufsX13, Val287_Ala314delins37insMSH2:Ala72_Thr934] - 2 Parent #1 g.47610843_47615751del Ligtenberg 2009 chr2_001651 - 4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes; wt allele lost in tumor Germline (inherited) - Johan den Dunnen
EPCAM NM_002354.2 +/. 7i_9_ c.859-1462_*1999del - - r.[859_*405delinsNM_000251.2:c.212_*272, 859_*405delinsNM_000251.2:c.-4237_-4127ins212_*272] p.[Val287GlufsX13, Val287_Ala314delins37insMSH2:Ala72_Thr934] - 2 Parent #1 g.47610843_47615751del Ligtenberg 2009 chr2_001651 - 4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes Germline (inherited) - Johan den Dunnen
EPCAM NM_002354.2 +/. 8i_9_ c.(903+1_904-1)_(*1_?)del - - r.? p.? - 2 Unknown g.(47612350_47613710)_(47643569_47656880)del - chr2_001652 - - Germline (inherited) - InSiGHT group
EPCAM NM_002354.2 +/. 7i_9_ c.859-1462_*1999del - - r.? p.? - 2 Unknown g.47610843_47615751del {microatt:1002906, Mensenkamp and Ligtenberg} chr2_001651 - - Germline (inherited) - InSiGHT group
FBXO11 NM_025133.4 ?/. ? c.*1180_*1181dup - - r.(=) p.(=) - 2 Unknown g.48034076_48034077dup - chr2_000091 - - Germline (inherited) - Ans van den Ouweland
FBXO11 NM_025133.4 ?/. ? c.*1173A>T - - r.(=) p.(=) - 2 Unknown g.48034084T>A Perez-Cabornero et al., 2009 chr2_000092 - - Germline (inherited) - Michael Woods
FBXO11 NM_025133.4 ?/. ? c.*1173A>T - - r.(=) p.(=) - 2 Unknown g.48034084T>A {microatt:1000376, Steve Gallinger} chr2_000092 - - Germline (inherited) - InSiGHT group
FBXO11 NM_025133.4 ?/. ? c.*1173A>T - - r.(=) p.(=) - 2 Unknown g.48034084T>A {microatt:1000580, Steve Gallinger} chr2_000092 - - Germline (inherited) - InSiGHT group
FBXO11 NM_025133.4 ?/. ? c.*1073A>C - - r.? p.? - 2 Unknown g.48034184T>G Chaksangchaichot et al., 2007 chr2_000093 - - Somatic - Michael Woods
FBXO11 NM_025133.4 ?/. ? c.1976-681C>T - - r.? p.? - 2 Unknown g.48038246G>A Schafmayer et al., 2007 chr2_000094 - - Germline (inherited) - Michael Woods
FBXO11 NM_025133.4 ?/. ? c.1976-681C>T - - r.? p.? - 2 Unknown g.48038246G>A {dbSNP6713506 chr2_000094 - - Germline (inherited) - Michael Woods
FBXO11 NM_025133.4 ?/. ? c.1975+1329A>G - - r.(=) p.(=) - 2 Unknown g.48039044T>C Schafmayer et al., 2007 chr2_000095 - - Germline (inherited) - Michael Woods
FBXO11 NM_025133.4 ?/. ? c.1975+1329A>G - - r.(=) p.(=) - 2 Unknown g.48039044T>C {dbSNP2537742 chr2_000095 - - Germline (inherited) - Michael Woods
MLH1 NM_000249.3 ?/? 11 c.931A>G - - r.(?) p.Lys311Glu - 3 Maternal (confirmed) g.37061847A>G - MLH1_000045 - - Germline (inherited) - Ruth Armstrong
MLH1 NM_000249.3 ?/? 11 c.931A>G - - r.(?) p.Lys311Glu - 3 Unknown g.37061847A>G - MLH1_000045 - - Germline (inherited) - Ruth Armstrong
MLH1 NM_000249.3 ?/? 11 c.935A>C - - r.(?) p.(His312Pro) - 3 Maternal (inferred) g.37061851A>C - MLH1_000057 - - Germline (inherited) - Ruth Armstrong
MLH1 NM_000249.3 ?/? 13 c.1476A>C - p.(Ala492Ala) r.(?) p.(=) - 3 Maternal (inferred) g.37070341A>C - MLH1_000058 - - Germline (inherited) - Ruth Armstrong
MLH1 NM_000249.3 ?/? 16 c.1852_1853delinsGC - - r.(?) p.(Lys618Ala) - 3 Unknown g.37089130_37089131delinsGC - MLH1_000059 - - Germline (inherited) - Ruth Armstrong
MLH1 NM_000249.3 ?/? 11 c.918T>A - - r.(?) p.(Asn306Lys) - 3 Paternal (inferred) g.37061834T>A - MLH1_000060 - - Germline (inherited) - Ruth Armstrong
MLH1 NM_000249.3 ?/? 11 c.918T>A - - r.(?) p.(Asn306Lys) - 3 Maternal (inferred) g.37061834T>A - chr3_000005 - - Germline (inherited) - John Paul Plazzer
MLH1 NM_000249.3 ?/? 9i c.790+10A>G - p.? r.(?) p.(=) - 3 Paternal (inferred) g.37056045A>G - MLH1_000061 - - Germline (inherited) - Ruth Armstrong
MLH1 NM_000249.3 ?/? 19 c.2146G>A - - r.(?) p.(Val716Met) - 3 Maternal (inferred) g.37092019G>A - MLH1_000062 - - Germline (inherited) - Ruth Armstrong
MLH1 NM_000249.3 ?/? 19 c.2146G>A - - r.(?) p.(Val716Met) - 3 Unknown g.37092019G>A - MLH1_000062 - - Germline (inherited) - Ruth Armstrong
MLH1 NM_000249.3 ?/? 16 c.1852_1853delinsGC - - r.(?) p.(Lys618Ala) - 3 Paternal (confirmed) g.37089130_37089131delinsGC - MLH1_000059 - - Germline (inherited) - Ruth Armstrong
MLH1 NM_000249.3 ?/? 11 c.933G>C - p.Lys311Asn r.(?) p.(Lys311Asn) - 3 Unknown g.37061849G>C - MLH1_000025 - - Germline (inherited) - Ruth Armstrong
MLH1 NM_000249.3 ?/? 16 c.1852_1853delinsGC - - r.(?) p.(Lys618Ala) - 3 Maternal (confirmed) g.37089130_37089131delinsGC - MLH1_000059 - - Germline (inherited) - Ruth Armstrong
MLH1 NM_000249.3 ?/? 11 c.933G>C - p.Lys311Asn r.(?) p.(Lys311Asn) - 3 Unknown g.37061849G>C - MLH1_000025 - - Germline (inherited) - Ruth Armstrong
MLH1 NM_000249.3 ?/? 8 c.637G>A - - r.(?) p.(Val213Met) - 3 Maternal (inferred) g.37053550G>A - MLH1_000063 - - Germline (inherited) - Ruth Armstrong
MLH1 NM_000249.3 ?/? 9 c.694G>A - - r.(?) p.(Gly232Arg) - 3 Maternal (confirmed) g.37055939G>A - MLH1_000064 - - Germline (inherited) - Ruth Armstrong
MLH1 NM_000249.3 ?/? 9 c.694G>A - - r.(?) p.(Gly232Arg) - 3 Unknown g.37055939G>A - MLH1_000064 - - Germline (inherited) - Ruth Armstrong
MLH1 NM_000249.3 ?/? 5 c.440G>C - - r.(?) p.(Gly147Ala) - 3 Paternal (confirmed) g.37048541G>C - MLH1_000065 - - Germline (inherited) - Ruth Armstrong
MLH1 NM_000249.3 ?/? 5 c.440G>C - - r.(?) p.(Gly147Ala) - 3 Maternal (inferred) g.37048541G>C - MLH1_000065 - - Germline (inherited) - Ruth Armstrong
MLH1 NM_000249.3 ?/? 5 c.440G>C - - r.(?) p.(Gly147Ala) - 3 Paternal (confirmed) g.37048541G>C - MLH1_000065 - - Germline (inherited) - Ruth Armstrong
MLH1 NM_000249.3 ?/? 5 c.440G>C - - r.(?) p.(Gly147Ala) - 3 Paternal (confirmed) g.37048541G>C - MLH1_000065 - - Germline (inherited) - Ruth Armstrong
MLH1 NM_000249.3 ?/? ? c.350C>G Class 3 - r.(?) p.(Thr117Arg) - 3 Maternal (confirmed) g.37045935C>G - MLH1_000001 - - Germline (inherited) ? John Paul Plazzer
MLH1 NM_000249.3 ?/? ? c.350C>G Class 3 - r.(?) p.(Thr117Arg) - 3 Paternal (confirmed) g.37045935C>G - MLH1_000001 - - Germline (inherited) ? John Paul Plazzer
MLH1 NM_000249.3 ?/. 10 c.808A>G - - r.(?) p.(Thr270Ala) - 3 Unknown g.37059014A>G - MLH1_000002 - Segregation Likelihood Ratio = 0.9215 Germline (inherited) ? Bryony A Thompson
MLH1 NM_000249.3 ?/. 12 c.1136A>G - - r.(?) p.(Tyr379Cys) - 3 Unknown g.37067225A>G - MLH1_000003 - Segregation Likelihood Ratio = 0.2578 Germline (inherited) ? Bryony A Thompson
MLH1 NM_000249.3 ?/. 17 c.1963A>G - - r.(?) p.(Ile655Val) - 3 Paternal (inferred) g.37090074A>G - MLH1_000004 - Segregation Likelihood Ratio = 0.1092 Germline (inherited) ? Bryony A Thompson
MLH1 NM_000249.3 +/? 3 c.210_213del - - r.(?) p.(Glu71Ilefs*20) - 3 Unknown g.37042448_37042451del Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MLH1_000005 - [Scott et al., 2001]. Frameshift Germline (inherited) ? John Paul Plazzer
MLH1 NM_000249.3 +/? 4 c.333_334delTC - - r.(?) p.(His112Cysfs*9) - 3 Unknown g.37045918_37045919delTC Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MLH1_000006 - Frameshift Germline (inherited) ? John Paul Plazzer
MLH1 NM_000249.3 +/? 7 c.551C>A - - r.(?) p.(Ser184*) - 3 Unknown g.37053316C>A Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MLH1_000007 - Nonsense Germline (inherited) ? John Paul Plazzer
MLH1 NM_000249.3 +/? 7 c.582delT - - r.(?) p.(Lys196Asnfs*6) - 3 Unknown g.37053347delT Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MLH1_000008 - Frameshift Germline (inherited) ? John Paul Plazzer
MLH1 NM_000249.3 +/? 8 c.624del - - r.(?) p.(Asn209Metfs*20) - 3 Unknown g.37053537del Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MLH1_000009 - Frameshift Germline (inherited) ? John Paul Plazzer
MLH1 NM_000249.3 +/? 9 c.728_732delATGGT - - r.(?) p.(Asn243Ilefs*62) - 3 Unknown g.37055973_37055977delATGGT Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MLH1_000010 - Frameshift Germline (inherited) ? John Paul Plazzer
MLH1 NM_000249.3 +?/? 9i c.791-1G>A - - r.spl? p.? - 3 Unknown g.37058996G>A Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MLH1_000011 - Splice site, c.791+1G>T (class 4) and G>C (class 5) is reported Germline (inherited) ? John Paul Plazzer
MLH1 NM_000249.3 +/? 13 c.1451del - - r.(?) p.(Asp484Valfs*7) - 3 Unknown g.37070316del Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MLH1_000012 - Frameshift Germline (inherited) ? John Paul Plazzer
MLH1 NM_000249.3 +/? 13 c.1519_1520delTT - - r.(?) p.(Leu507Glufs*7) - 3 Unknown g.37070384_37070385delTT Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MLH1_000013 - Frameshift. c.1520del is reported; class 5 Germline (inherited) ? John Paul Plazzer
MLH1 NM_000249.3 +/? 14_18 c.1559_2103del - - r.(?) p.(Val520Glufs*2) - 3 Unknown g.37081677_37090508del Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MLH1_000014 - Frameshift Germline (inherited) ? John Paul Plazzer
MLH1 NM_000249.3 +/? 14 c.1656dup - - r.(?) p.(Thr553Hisfs*4) - 3 Unknown g.37081774dup Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MLH1_000015 - Frameshift Germline (inherited) ? John Paul Plazzer
MLH1 NM_000249.3 +?/? 14i c.1668-2A>C - - r.spl? p.? - 3 Unknown g.37083757A>C Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MLH1_000016 - Splice site Germline (inherited) ? John Paul Plazzer
MLH1 NM_000249.3 +/? 16 c.1769T>G - - r.(?) p.(Leu590*) - 3 Unknown g.37089047T>G Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MLH1_000017 - Nonsense Germline (inherited) ? John Paul Plazzer
MLH1 NM_000249.3 +/? 16 c.1834_1837delinsT - - r.(?) p.(Val612*) - 3 Unknown g.37089112_37089115delinsT Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MLH1_000018 - Insertion/deletion Germline (inherited) ? John Paul Plazzer
MLH1 NM_000249.3 +/? 18 c.2089dup - - r.(?) p.(Leu697Profs*7) - 3 Unknown g.37090494dup Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MLH1_000019 - Frameshift Germline (inherited) ? John Paul Plazzer
MLH1 NM_000249.3 +?/? 19 c.2114delC - - r.(?) p.(Pro705Leufs*78) - 3 Unknown g.37091987delC Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MLH1_000020 - Frameshift Germline (inherited) ? John Paul Plazzer
MLH1 NM_000249.3 +?/? 19 c.2149delG - - r.(?) p.(Glu717Asnfs*66) - 3 Unknown g.37092022delG Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MLH1_000021 - Frameshift Germline (inherited) ? John Paul Plazzer
MLH1 NM_000249.3 +?/? 19 c.2196delA - - r.(?) p.(Lys732Asnfs*51) - 3 Unknown g.37092069delA Sjursen, W., McPhillips, M., Scott, R. J. and Talseth-Palmer, B. A. (2016), Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. Mol Genet Genomic Med. doi:10.1002/mgg3.198 MLH1_000022 - Frameshift Germline (inherited) ? John Paul Plazzer
MLH1 NM_000249.3 +?/. ? c.311T>A - - r.(?) p.(Leu104*) - 3 Unknown g.37045896T>A InSiGHT Variant Interpretation Committee April 2016 MLH1_000023 - - Germline (inherited) - John Paul Plazzer
MLH1 NM_000249.3 ?/? ? c.799_800delinsAG Class 3 - r.(?) p.(Val267Arg) cDNA biallelic, no Splice defect in 94112 oP-94113 mP, no Splice defect predicted 3 Unknown g.37059005_37059006delinsAG - MLH1_000024 - Valin 267 in highly conserved DNA mismatch and repair"" Domain in amino acid + Nukleotid level"" Germline (inherited) - Elke Holinski-Feder
MLH1 NM_000249.3 ?/? ? c.799_800delinsAG Class 3 - r.(?) p.(Val267Arg) - 3 Unknown g.37059005_37059006delinsAG - MLH1_000024 - Valin 267 in highly conserved DNA mismatch and repairÔÇ£ Domain in amino acid + Nukleotid level"" Germline (inherited) - Elke Holinski-Feder
MLH1 NM_000249.3 ?/. ? c.-11C>T - - r.(=) p.(=) - 3 Unknown g.37035028C>T Ward et al. (2013) MLH1_000026 - Testing stopped when variant detected Germline (inherited) - Robyn Ward
MLH1 NM_000249.3 ?/. ? c.-42C>T - - r.(=) p.(=) - 3 Unknown g.37034997C>T Ward et al. (2013) MLH1_000027 - Testing stopped when variant detected Germline (inherited) ? Robyn Ward
MLH1 NM_000249.3 ?/. ? c.-413_-411del - - r.(=) p.(=) - 3 Unknown g.37034626_37034628del Ward et al. (2013) MLH1_000028 - Testing stopped when variant detected Germline (inherited) - Robyn Ward
MLH1 NM_000249.3 ?/. ? c.-435_-432del - - r.(=) p.(=) - 3 Unknown g.37034604_37034607del Ward et al. (2013) MLH1_000029 - Testing stopped when variant detected Germline (inherited) - Robyn Ward
MLH1 NM_000249.3 ?/. ? c.-11C>T - - r.(=) p.(=) - 3 Unknown g.37035028C>T Ward et al. (2013) MLH1_000026 - Testing stopped when variant detected Germline (inherited) - Robyn Ward
MLH1 NM_000249.3 ?/. ? c.27G>A - - r.(=) p.(=) - 3 Unknown g.37035065G>A Ward et al. (2013) MLH1_000030 - Testing stopped when variant detected Germline (inherited) - John Paul Plazzer
MLH1 NM_000249.3 ?/. 1 c.27G= - c.27G (wild-type) r.(=) p.(=) - 3 Unknown g.37035065G= Ward et al. (2013) MLH1_000031 - Testing stopped when variant detected Germline (inherited) - Robyn Ward
MLH1 NM_000249.3 ?/. 1 c.27G= - c.27G (wild-type) r.(=) p.(=) - 3 Unknown g.37035065G= Ward et al. (2013) MLH1_000031 - Testing stopped when variant detected Germline (inherited) - Robyn Ward
MLH1 NM_000249.3 ?/. 1 c.27G= - c.27G (wild-type) r.(=) p.(=) - 3 Unknown g.37035065G= Ward et al. (2013) MLH1_000031 - Testing stopped when variant detected Germline (inherited) - Robyn Ward
MLH1 NM_000249.3 ?/. 1 c.27G= - c.27G (wild-type) r.(=) p.(=) - 3 Unknown g.37035065G= Ward et al. (2013) MLH1_000031 - Testing stopped when variant detected Germline (inherited) - Robyn Ward
MLH1 NM_000249.3 ?/. 1 c.27G>A - - r.(=) p.(=) - 3 Unknown g.37035065G>A Ward et al. (2013) MLH1_000030 - Testing stopped when variant detected Germline (inherited) - Robyn Ward
MLH1 NM_000249.3 ?/. 1 c.27G= - c.27G (wild-type) r.(=) p.(=) - 3 Unknown g.37035065G= Ward et al. (2013) MLH1_000031 - Testing stopped when variant detected Germline (inherited) - Robyn Ward
MLH1 NM_000249.3 +/? 13 c.1462A>T - - r.(?) p.(Lys488*) - 3 Unknown g.37070327A>T - chr3_000050 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - John Paul Plazzer
MLH1 NM_000249.3 +/? 13 c.1464_1468delGGAAA - - r.(?) p.(Lys488Asnfs*13) - 3 Unknown g.37070329_37070333delGGAAA - chr3_000016 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - John Paul Plazzer
MLH1 NM_000249.3 +/? 13 c.1534G>T - - r.(?) p.(Glu512*) - 3 Unknown g.37070399G>T - chr3_000051 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - John Paul Plazzer
MLH1 NM_000249.3 +/? 13 c.1554dupT - - r.(?) p.(Glu519*) - 3 Unknown g.37070419dupT - chr3_000052 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - John Paul Plazzer
MLH1 NM_000249.3 +/? 14 c.1667G>C - - r.(?) p.(Ser556Thr) - 3 Unknown g.37081785G>C - chr3_000053 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - John Paul Plazzer
MLH1 NM_000249.3 +/? 15 c.1668delT - - r.(?) p.(Ser556Argfs*35) - 3 Unknown g.37083759delT - chr3_000054 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - John Paul Plazzer
MLH1 NM_000249.3 +/? 16_19 c.1732-?_2271+?del - - r.(?) p.? - 3 Unknown g.37089010_37092144del - chr3_000055 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - John Paul Plazzer
MLH1 NM_000249.3 +/? 16 c.1758delC - - r.(?) p.(Met587Cysfs*4) - 3 Unknown g.37089036delC - chr3_000025 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - John Paul Plazzer
MLH1 NM_000249.3 +/? 17 c.1975_1976delCG - - r.(?) p.(Arg659Thrfs*4) - 3 Unknown g.37090086_37090087delCG - chr3_000056 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - John Paul Plazzer
MLH1 NM_000249.3 +/? 17 c.1975C>T - - r.(?) p.(Arg659*) - 3 Unknown g.37090086C>T - chr3_000030 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - John Paul Plazzer
MLH1 NM_000249.3 +/? 17i c.1989+1G>A - - r.spl? p.? - 3 Unknown g.37090101G>A - chr3_000031 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - John Paul Plazzer
MLH1 NM_000249.3 +/? 1 c.1A>G - - r.? p.? - 3 Unknown g.37035039A>G - chr3_000057 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - John Paul Plazzer
MLH1 NM_000249.3 +/? 18i c.2103+1G>T - - r.spl? p.? - 3 Unknown g.37090509G>T - chr3_000058 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - John Paul Plazzer
MLH1 NM_000249.3 +/? 19 c.2196delA - - r.(?) p.(Lys732Asnfs*51) - 3 Unknown g.37092069delA - MLH1_000022 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - John Paul Plazzer
MLH1 NM_000249.3 +/? 4 c.333_334del - - r.(?) p.(His112Cysfs*9) - 3 Unknown g.37045918_37045919del - chr3_000059 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - John Paul Plazzer
MLH1 NM_000249.3 +/? 4 c.350C>T - - r.(?) p.(Thr117Met) - 3 Unknown g.37045935C>T - chr3_000037 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - John Paul Plazzer
MLH1 NM_000249.3 +/? 4i c.380+1G>A - - r.spl? p.? - 3 Unknown g.37045966G>A - chr3_000038 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - John Paul Plazzer
MLH1 NM_000249.3 +/? 7 c.554T>G - - r.(?) p.(Val185Gly) - 3 Unknown g.37053319T>G - chr3_000060 - ICCON data, Prince of Wales Hospital, NSW Germline (inherited) - John Paul Plazzer
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