All transcript variants in gene MLH1

Information The variants shown are described using the NM_000249.3 transcript reference sequence.

8023 entries on 81 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

InSiGHT Class     

Splicing/transcript expression     

DNA change (genomic) (hg19)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Owner     
?/? 1 c.37G>A - r.(?) p.(Glu13Lys) - - g.37035075G>A - Haraldsdottir et al. Accepted into Nature Communications MLH1_001879 0.06 Carrier frequency in Iceland (%): 0.06; Odds ratio for CRC (95%CI): 0.94 (0.22-4.12) Germline (inherited) - Sigurdis Haraldsdottir
?/? 1 c.65G>C - r.(?) p.(Gly22Ala) - - g.37035103G>C - Haraldsdottir et al. Accepted into Nature Communications MLH1_001732 0.07 Carrier frequency in Iceland (%): 0.07; Odds ratio for CRC (95%CI): 0.78 (0.33-1.88) Germline (inherited) - Sigurdis Haraldsdottir
?/? 10 c.802G>C - r.(?) p.(Glu268Gln) - - g.37059008G>C - Haraldsdottir et al. Accepted into Nature Communications MLH1_001901 0.08 Carrier frequency in Iceland (%): 0.08; Odds ratio for CRC (95%CI): 1.6 (0.51-5.07) Germline (inherited) - Sigurdis Haraldsdottir
?/? 10 c.821A>G - r.(?) p.(Lys274Arg) - - g.37059027A>G - Haraldsdottir et al. Accepted into Nature Communications MLH1_001903 0.22 Carrier frequency in Iceland (%): 0.22; Odds ratio for CRC (95%CI): 0.78 (0.33-1.88) Germline (inherited) - Sigurdis Haraldsdottir
?/? ? c.? Balanced translocation r.(?) p.? - - g.36998760_? - Haraldsdottir et al. Accepted into Nature Communications MLH1_000000 - Balanced translocation. Found in 1 family Germline (inherited) - Sigurdis Haraldsdottir
?/+ 11i_19_ c.(1038+1_1039-1)_(*193_?)del - r.? p.? Class 5 - g.(37061955_37067127)_(37092337_?)del - - MLH1_000912 - - Germline (inherited) - Prof. Dr. med. Peter Propping
+/+ 11i_19_ c.(1038+1_1039-1)_(*193_?)del del ex12-19 r.? p.? Class 5 - g.(37061955_37067127)_(37092337_?)del - - MLH1_000912 - - Germline (inherited) - Prof. Dr. med. Peter Propping
+/+ 12i_19_ c.(1409+1_1410-1)_(*193_?)del del ex13-19 r.? p.? Class 5 - g.(37067499_37070274)_(37092337_?)del - - MLH1_000504 - - Germline (inherited) - Prof. Dr. med. Peter Propping
?/+ 12i_19_ c.(1409+1_1410-1)_(*193_?)del Deletion of Exon 13-19 r.? p.? Class 5 - g.(37067499_37070274)_(37092337_?)del - Mangold et al., 2005 MLH1_000504 - - Germline (inherited) - Michael Woods
?/+ 12i_19_ c.(1409+1_1410-1)_(*193_?)del Deletion of Exon 13-19 r.? p.? Class 5 - g.(37067499_37070274)_(37092337_?)del - Mangold et al., 2005 MLH1_000504 - - Germline (inherited) - Michael Woods
?/+ 13i_19_ c.(1558+1_1559-1)_(*193_?)del Deletion of Exon 14-19 r.? p.? Class 5 - g.(37070424_37081676)_(37092337_?)del - Wang et al., 2003 MLH1_001136 - - Germline (inherited) - Michael Woods
?/+ 13i_19_ c.(1558+1_1559-1)_(*193_?)del Deletion of Exon 14-19 r.? p.? Class 5 - g.(37070424_37081676)_(37092337_?)del - Staaf et al., 2008,Halvarsson et al., 2006 MLH1_001136 - - Germline (inherited) - Michael Woods
?/+ 15i_19_ c.(1731+1_1732-1)_(*193_?)del c.1732-?_2271+?del (Del ex16-19 (15 Kb del) r.? p.Glu578_X757del Class 5 - g.(37083823_37089009)_(37092337_?)del - {microatt:1000292, José Luis Soto} MLH1_001572 - Variant Allele: Paternal Inferred Germline (inherited) - InSiGHT group
?/+ 15i_19_ c.(1731+1_1732-1)_(*193_?)del Deletion of Exon 16-19 (>3.5kb) r.? p.? Class 5 - g.(37083823_37089009)_(37092337_?)del - Taylor et al., 2003 MLH1_001572 - - Germline (inherited) - Michael Woods
?/+ 15i_19_ c.(1731+1_1732-1)_(*193_?)del Deletion of Exon 16-19 r.? p.? Class 5 - g.(37083823_37089009)_(37092337_?)del - Baudhuin et al., 2005 MLH1_001572 - - Germline (inherited) - Michael Woods
?/+ 15i_19_ c.(1731+1_1732-1)_(*193_?)del Deletion of Exon 16-19 r.? p.? Class 5 - g.(37083823_37089009)_(37092337_?)del - South et al., 2008 MLH1_001572 - - Germline (inherited) - Michael Woods
?/+ 15i_19_ c.(1731+1_1732-1)_(*193_?)del Deletion of Exon 16-19; Authors describe this as c.1732+?_c.2268. r.? p.? Class 5 - g.(37083823_37089009)_(37092337_?)del - Nilbert et al., 2008 MLH1_001572 - - Germline (inherited) - Michael Woods
?/+ 15i_19_ c.(1731+1_1732-1)_(*193_?)del Deletion of Exon 16-19 r.? p.? Class 5 - g.(37083823_37089009)_(37092337_?)del - Vaughn et al., 2008 MLH1_001572 - - Germline (inherited) - Michael Woods
+/+ 15i_19_ c.(1731+1_1732-1)_(*193_?)del Deletion of Exon 16-19 (>3.5kb) r.? p.? Class 5 - g.(37083823_37089009)_(37092337_?)del - Taylor et al., 2003, Genuardi et al., (unpublished) MLH1_001572 - - Germline (inherited) - MAURIZIO GENUARDI
?/+ 17i_19_ c.(1989+1_1990-1)_(*193_?)del del Ex18-19, >3.4kb r.? p.? Class 5 - g.(37090101_37090394)_(37092337_?)del - van der Klift et al., 2005 MLH1_000763 - - Germline (inherited) - Juul Wijnen
?/+ 18i_19_ c.(2103+1_2104-1)_(*193_?)del Deletion of Exon 19 r.? p.? Class 5 - g.(37090509_37091976)_(37092337_?)del - Soravia et al., 2001 MLH1_001267 - - Germline (inherited) - Michael Woods
?/? 18i_19_ c.(2103+1_2104-1)_(*193_?)dup Duplication of Exon 19 r.? p.? Class 3 - g.(37090509_37091976)_(37092337_?)dup - Zhu et al., 2005 MLH1_001268 - - Germline (inherited) - Michael Woods
+/+ 3i_19_ c.(306+1_307-1)_(*193_?)del del ex04-19 r.? p.? Class 5 - g.(37042545_37045891)_(37092337_?)del - - MLH1_001007 - - Germline (inherited) - Prof. Dr. med. Peter Propping
?/+ 3i_19_ c.(306+1_307-1)_(*193_?)del Deletion of Exon 4-19 r.? p.? Class 5 - g.(37042545_37045891)_(37092337_?)del - Boyer et al., 1995 MLH1_001007 - - In vitro (cloned) - Michael Woods
?/+ 10i_19i c.(884+1_885-1)_(*193_?)del Deletion of Exon 11-19 r.? p.? Class 5 - g.(37059091_37061800)_(37092337_?)del - van der Klift et al., 2005 MLH1_000424 - - Germline (inherited) - Juul Wijnen
+/+ _1_19_ c.(?_-198)_(*193_?)del - r.0? p.0? Class 5 - g.(?_37034841)_(37092337_?)del - Zidan et al., 2007 MLH1_001571 - part or all of the MLH1 gene missing Germline (inherited) - Michael Woods
?/+ _1_19_ c.(?_-198)_(*193_?)del del Ex1-19, >57kb r.0? p.0? Class 5 - g.(?_37034841)_(37092337_?)del - van der Klift et al., 2005 MLH1_001571 - - Germline (inherited) - Juul Wijnen
?/+ _1_19_ c.(?_-198)_(*193_?)del Deletion of MLH1 r.0? p.0? Class 5 - g.(?_37034841)_(37092337_?)del - Salahshor et al., 2001 MLH1_001571 - - Germline (inherited) - Michael Woods
?/+ _1_19_ c.(?_-198)_(*193_?)del Deletion of MLH1 r.0? p.0? Class 5 - g.(?_37034841)_(37092337_?)del - Gille et al., 2002 MLH1_001571 - - Germline (inherited) - Michael Woods
?/+ _1_19_ c.(?_-198)_(*193_?)del Deletion of MLH1 r.0? p.0? Class 5 - g.(?_37034841)_(37092337_?)del - van der Klift et al., 2005 MLH1_001571 - - Germline (inherited) - Michael Woods
?/+ _1_19_ c.(?_-198)_(*193_?)del Deletion of Exon 1-19 r.0? p.0? Class 5 - g.(?_37034841)_(37092337_?)del - Di Fiore et al., 2004 MLH1_001571 - - Germline (inherited) - Michael Woods
+/+ _1_19_ c.(?_-198)_(*193_?)del - r.0? p.0? Class 5 - g.(?_37034841)_(37092337_?)del - {microatt:1000236, Maurizio Genuardi} MLH1_001571 - c.1668-19A>G + c.(?_-373)_(108+?)del this variant segregates with phenotype in 1 family member Germline (inherited) - MAURIZIO GENUARDI
?/+ _1_19_ c.(?_-198)_(*193_?)del c.1-?_2271+?del (Del ex01-19) r.0? p.0? Class 5 - g.(?_37034841)_(37092337_?)del - {microatt:1000290, José Luis Soto} MLH1_001571 - - Germline (inherited) - InSiGHT group
?/+ _1_19_ c.(?_-198)_(*193_?)del c.1-?_2271+?del (Del ex01-19 (123 Kb del)) r.0? p.0? Class 5 - g.(?_37034841)_(37092337_?)del - {microatt:1000291, José Luis Soto} MLH1_001571 - Variant Allele: Maternal Inferred Germline (inherited) - InSiGHT group
+/+ - c.(?_-198)_(*193_?)del c.1-?_2271+?del Whole gene deletion r.(?) p.? Class 5 - g.37034841_37092337del - Lagerstedt-Robinson et al. 2016 chr3_000041 - - Germline (inherited) - Kristina Lagerstedt Robinson
+/+ - c.(?_-198)_(*193_?)del c.1-?_2271+?del Whole gene deletion r.(?) p.? Class 5 - g.37034841_37092337del - Lagerstedt-Robinson et al. 2016 chr3_000041 - - Germline (inherited) - Kristina Lagerstedt Robinson
+/+ - c.(?_-198)_(*193_?)del c.1-?_2271+?del Whole gene deletion r.(?) p.? Class 5 - g.37034841_37092337del - Lagerstedt-Robinson et al. 2016 chr3_000041 - - Germline (inherited) - Kristina Lagerstedt Robinson
?/+ _1_11i c.(?_-198)_(1038+1_1039-1)del Exon 1 to Exon 11 (c.1-?_1038+?del) r.0? p.0? Class 5 - g.(?_37034841)_(37061955_37067127)del - {microatt:1003328, Desiree du Sart} MLH1_001667 - - Germline (inherited) - InSiGHT group
?/+ _1_1i c.(?_-198)_(116+1_117-1)del Deletion of Exon 1 r.0? p.0? Class 5 - g.(?_37034841)_(37035155_37038109)del - Zhu et al., 2005 MLH1_000941 - - Germline (inherited) - Michael Woods
?/+ _1_1i c.(?_-198)_(116+1_117-1)del Deletion of Exon 1 r.0? p.0? Class 5 - g.(?_37034841)_(37035155_37038109)del - Barnetson et al., 2006 MLH1_000941 - - Germline (inherited) - Michael Woods
?/+ _1_1i c.(?_-198)_(116+1_117-1)del Deletion of Exon 1 r.0? p.0? Class 5 - g.(?_37034841)_(37035155_37038109)del - De Lellis et al., 2006 MLH1_000941 - - Germline (inherited) - Michael Woods
?/? _1_1i c.(?_-198)_(116+1_117-1)dup Duplication of Exon 1 r.0? p.0? Class 3 - g.(?_37034841)_(37035155_37038109)dup - Zhu et al., 2005 MLH1_000942 - - Germline (inherited) - Michael Woods
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del Deletion of Exon 1-13 r.0? p.0? Class 5 - g.(?_37034841)_(37070424_37081676)del - Wagner et al., 2003 MLH1_000013 - - Germline (inherited) - Michael Woods
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del del Ex1-13 r.0? p.0? Class 5 - g.(?_37034841)_(37070424_37081676)del - van der Klift et al., 2005 MLH1_000013 - - Germline (inherited) - Juul Wijnen
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del Deletion of Exon 1-13 r.0? p.0? Class 5 - g.(?_37034841)_(37070424_37081676)del - Baudhuin et al., 2005 MLH1_000013 - - Germline (inherited) - Michael Woods
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del Deletion of Exon 1-13 r.0? p.0? Class 5 - g.(?_37034841)_(37070424_37081676)del - Vaughn et al., 2008 MLH1_000013 - - Germline (inherited) - Michael Woods
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del Exon 1 to Exon 13 c.1-?_1588+?del p.Met1Phefs*15 (reported as p.Met1_Val520>Phefs*15) r.0? p.0? Class 5 - g.(?_37034841)_(37070424_37081676)del - {microatt:1003122, Desiree du Sart} MLH1_000013 - - Germline (inherited) - InSiGHT group
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del c.(?_-198)_1558+?del r.0? p.0? Class 5 - g.(?_37034841)_(37070424_37081676)del - {microatt:1000382, Robert HaileTherese Teitsch} MLH1_000013 - - Germline (inherited) - InSiGHT group
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del c.(?_-198)_1558+?del r.0? p.0? Class 5 - g.(?_37034841)_(37070424_37081676)del - {microatt:1000508, Robert HaileTherese Teitsch} MLH1_000013 - - Germline (inherited) - InSiGHT group
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del c.(?_-198)_1558+?del r.0? p.0? Class 5 - g.(?_37034841)_(37070424_37081676)del - {microatt:1000545, Polly Newcomb and John Potter} MLH1_000013 - - Germline (inherited) - InSiGHT group
?/+ _1_15i c.(?_-198)_(1731+1_1732-1)del Deletion of Exon 1-15 r.0? p.0? Class 5 - g.(?_37034841)_(37083823_37089009)del - Pistorius et al., 2007 MLH1_001614 - - Germline (inherited) - Michael Woods
?/+ _1_15i c.(?_-198)_(1731+1_1732-1)del Deletion of Exon 1-15 r.0? p.0? Class 5 - g.(?_37034841)_(37083823_37089009)del - Nilbert et al., 2002 MLH1_001614 - - Germline (inherited) - Michael Woods
?/+ _1_15i c.(?_-198)_(1731+1_1732-1)del Deletion of Exon 1-15 r.0? p.0? Class 5 - g.(?_37034841)_(37083823_37089009)del - Mangold et al., 2005 MLH1_001614 - - Germline (inherited) - Michael Woods
?/+ _1_15i c.(?_-198)_(1731+1_1732-1)del Deletion of Exon 1-15 r.0? p.0? Class 5 - g.(?_37034841)_(37083823_37089009)del - Lagerstedt Robinson et al., 2007 MLH1_001614 - - Germline (inherited) - Michael Woods
?/+ _1_15i c.(?_-198)_(1731+1_1732-1)del Deletion of Exon 1-15 r.0? p.0? Class 5 - g.(?_37034841)_(37083823_37089009)del - Staaf et al., 2008 MLH1_001614 - - Germline (inherited) - Michael Woods
+/+ _1_15i c.(?_-198)_(1731+1_1732-1)del del ex1-15 r.0? p.0? Class 5 - g.(?_37034841)_(37083823_37089009)del - - MLH1_001614 - - Germline (inherited) - Kristina Lagerstedt Robinson
?/+ _1_15i c.(?_-198)_(1731+1_1732-1)del c.(?_-198)_1731+?del r.0? p.0? Class 5 - g.(?_37034841)_(37083823_37089009)del - {microatt:1002770, Kristina Lagerstedt Robinson},Lagerstedt Robinson et al., 2007,Nilbert et al., 2002 MLH1_001614 - - Germline (inherited) - InSiGHT group
?/+ _1_2i c.(?_-198)_(207+1_208-1)del Deletion of Exon 1-2 r.0? p.0? Class 5 - g.(?_37034841)_(37038201_37042445)del - Zhang et al., 2006,Gylling et al., 2009 MLH1_001607 - - Germline (inherited) - Michael Woods
?/+ _1_2i c.(?_-198)_(207+1_208-1)del Deletion of Exon 1-2 r.0? p.0? Class 5 - g.(?_37034841)_(37038201_37042445)del - Baudhuin et al., 2005 MLH1_001607 - - Germline (inherited) - Michael Woods
?/+ _1_2i c.(?_-198)_(207+1_208-1)del Deletion of Exon 1-2 r.0? p.0? Class 5 - g.(?_37034841)_(37038201_37042445)del - Bertholon et al., 2006 MLH1_001607 - Identified in DU145 cell line. In vitro (cloned) - Michael Woods
?/+ _1_2i c.(?_-198)_(207+1_208-1)del c.(?_-198)_207+?del r.0? p.0? Class 5 - g.(?_37034841)_(37038201_37042445)del - {microatt:1002741, Elke Holinski-Feder and Monika Morak} MLH1_001607 - 2 index patients: male 41 y C. asc. Ca T3No , other female 46 y CC C18.9, no IHC, both Bethesda-pos. Germline (inherited) - InSiGHT group
?/+ _1_3i c.(?_-198)_(306+1_307-1)del Deletion of Exon 1-3 r.0? p.0? Class 5 - g.(?_37034841)_(37042545_37045891)del - Spaepen et al., 2006 MLH1_000946 - - Germline (inherited) - Michael Woods
+/+ _1_3i c.(?_-198)_(306+1_307-1)del Deletion of Exon 1-3 r.0? p.0? Class 5 - g.(?_37034841)_(37042545_37045891)del - Spaepen et al., 2006 Genuardi et al., (unpublished) MLH1_000946 - - Germline (inherited) - MAURIZIO GENUARDI
?/+ _1_4i c.(?_-198)_(380+1_381-1)del c.1-?_388+?del (Del ex01-04 (80 Kb del)) r.0? p.0? Class 5 - g.(?_37034841)_(37045966_37048481)del - {microatt:1000289, José Luis Soto} MLH1_001570 - Variant Allele: Maternal Inferred Germline (inherited) - InSiGHT group
?/+ _1_6i c.(?_-198)_(545+1_546-1)del Deletion of Exon 1-6 r.0? p.0? Class 5 - g.(?_37034841)_(37050397_37053310)del - Taylor et al., 2003 MLH1_001724 - - Germline (inherited) - Michael Woods
?/+ _1_6i c.(?_-198)_(545+1_546-1)del MLH1 exon 1-6 del phase unknown r.0? p.0? Class 5 - g.(?_37034841)_(37050397_37053310)del - - MLH1_001724 - - Germline (inherited) - Mark Jenkins
?/+ _1_6i c.(?_-198)_(545+1_546-1)del Exon 1 to Exon 6 c.1-?_545+?del p.Met1Valfs*9 (reported as p.Met1_Arg182>Valfs*9) r.0? p.0? Class 5 - g.(?_37034841)_(37050397_37053310)del - {microatt:1002973, Desiree du Sart} MLH1_001724 - - Germline (inherited) - InSiGHT group
?/+ _1_6i c.(?_-198)_(545+1_546-1)del Exon 1 to Exon 6 c.1-?_545+?del p.Met1Valfs*9 (reported as p.Met1_Arg182>Valfs*9) r.0? p.0? Class 5 - g.(?_37034841)_(37050397_37053310)del - {microatt:1003076, Desiree du Sart} MLH1_001724 - - Germline (inherited) - InSiGHT group
?/+ _1_6i c.(?_-198)_(545+1_546-1)del - r.0? p.0? Class 5 - g.(?_37034841)_(37050397_37053310)del - {microatt:1003406, Mark Jenkins} MLH1_001724 - MLH1:c.1569G>T; MLH1:c.(?_-198)_545+?del (in cis) Germline (inherited) - InSiGHT group
+/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion E1-10 r.0? p.0? Class 5 - g.(?_37034841)_(37059091_37061800)del - - MLH1_000949 - - Germline (inherited) - Prof. Dr. med. Peter Propping
+/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion E1-10 r.0? p.0? Class 5 - g.(?_37034841)_(37059091_37061800)del - - MLH1_000949 - - Germline (inherited) - Prof. Dr. med. Peter Propping
+/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion E1-10 r.0? p.0? Class 5 - g.(?_37034841)_(37059091_37061800)del - - MLH1_000949 - - Germline (inherited) - Prof. Dr. med. Peter Propping
+/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion E1-10 r.0? p.0? Class 5 - g.(?_37034841)_(37059091_37061800)del - - MLH1_000949 - - Germline (inherited) - Prof. Dr. med. Peter Propping
+/+ _1_10i c.(?_-198)_(884+1_885-1)del ex01_ex10del r.0? p.0? Class 5 - g.(?_37034841)_(37059091_37061800)del - - MLH1_000949 - - Germline (inherited) - Beate Dr. Betz
?/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion of Exon 1-10 r.0? p.0? Class 5 - g.(?_37034841)_(37059091_37061800)del - Wang et al., 2002 MLH1_000949 - - Germline (inherited) - Michael Woods
?/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion of Exon 1-10 r.0? p.0? Class 5 - g.(?_37034841)_(37059091_37061800)del - Wang et al., 2003 MLH1_000949 - - Germline (inherited) - Michael Woods
?/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion of Exon 1-10 r.0? p.0? Class 5 - g.(?_37034841)_(37059091_37061800)del - Grabowski et al., 2005 MLH1_000949 - - Germline (inherited) - Michael Woods
?/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion of Exon 1-10 r.0? p.0? Class 5 - g.(?_37034841)_(37059091_37061800)del - Mangold et al., 2005 MLH1_000949 - - Germline (inherited) - Michael Woods
?/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion of Exon 1-10 r.0? p.0? Class 5 - g.(?_37034841)_(37059091_37061800)del - Mangold et al., 2005 MLH1_000949 - - Germline (inherited) - Michael Woods
+/+ - c.(?_-198)_1731+?del c.1-?_1731+?del Deletion exons 1–15 r.(?) p.? Class 5 - g.37034841_37083822del - Lagerstedt Robinson et al. 2007, Lagerstedt-Robinson et al. 2016 chr3_000040 - - Germline (inherited) - Kristina Lagerstedt Robinson
+/+ - c.(?_-198)_306+?del c.1-?_306+?del Deletion exons 1–3 r.(?) p.? Class 5 - g.37034841_37042544del - Lagerstedt-Robinson et al. 2016 chr3_000039 - - Germline (inherited) - Kristina Lagerstedt Robinson
+/+ - c.(?_-198)_306+?del c.1-?_306+?del Deletion exons 1–3 r.(?) p.? Class 5 - g.37034841_37042544del - Lagerstedt-Robinson et al. 2016 chr3_000039 - - Germline (inherited) - Kristina Lagerstedt Robinson
+/+ - c.(?_-198)_306+?del c.1-?_306+?del Deletion exons 1–3 r.(?) p.? Class 5 - g.37034841_37042544del - Lagerstedt-Robinson et al. 2016 chr3_000039 - - Germline (inherited) - Kristina Lagerstedt Robinson
?/? 19 c.*167T>A Authors describe this as A>T at 2438 r.(?) p.(=) Class 3 - g.37092311T>A - Wang et al., 2005 MLH1_001053 - - Germline (inherited) - Michael Woods
?/? 19 c.*167T>A - r.(?) p.(=) Class 3 - g.37092311T>A - Wang et al., 2006 MLH1_001053 - - Germline (inherited) - Michael Woods
?/- 19 c.*2926C>T - r.(?) p.(=) Class 1 - g.37095070C>T - Schafmayer et al., 2007 MLH1_001054 - - Germline (inherited) - Michael Woods
?/- 19 c.*2926C>T - r.(?) p.(=) Class 1 - g.37095070C>T - {dsSNP10849} MLH1_001054 - - Germline (inherited) - Michael Woods
?/- 19 c.*35_*37del Authors describe this as c.2268+33_2268+35delTTC. r.(?) p.(=) Class 1 - g.37092179_37092181del - Steinke et al., 2008 MLH1_001056 - This individual also has an alteration in MSH6 c.3261dupC p.Phe1068LeufsX5 (see Supplementary Table 1). Germline (inherited) - Michael Woods
?/- 19 c.*35_*37del - r.(?) p.(=) Class 1 - g.37092179_37092181del - Tinat et al., 2008 MLH1_001056 - Authors describe this variant as not being the cause alteration in Lynch syndrome. This individual also had a mutation in MSH2 Exon 5 (c.793-?_942+?del). Germline (inherited) - Michael Woods
?/- 19 c.*35_*37del - r.(?) p.(=) Class 1 - g.37092179_37092181del - Tinat et al., 2008 MLH1_001056 - Authors suggest this clincial presentation does not suggest an biallelic inactivation of a MMR gene. Germline (inherited) - Michael Woods
?/- 19 c.*35_*37del - r.(?) p.(=) Class 1 - g.37092179_37092181del - Tinat et al., 2008 MLH1_001056 - Authors suggest this clincial presentation does not suggest an biallelic inactivation of a MMR gene. Germline (inherited) - Michael Woods
-?/- 19 c.*35_*37del - r.(?) p.(=) Class 1 - g.37092179_37092181del - - MLH1_001056 - - Germline (inherited) - Carli Tops
-?/- 19 c.*35_*37del - r.(?) p.(=) Class 1 - g.37092179_37092181del - - MLH1_001056 - - Germline (inherited) - Carli Tops
?/- 19 c.*35_*37del del ttc at 2268+33 r.(?) p.(=) Class 1 - g.37092179_37092181del - Hutter et al., (unpublished) MLH1_001056 - - Germline (inherited) - InSiGHT group
?/- 19 c.*35_*37del del ttc at 2268+33 r.(?) p.(=) Class 1 - g.37092179_37092181del - Viel et al., 1997 MLH1_001056 17989 - Germline (inherited) - InSiGHT group
?/- 19 c.*35_*37del del ttc at 2268+33 r.(?) p.(=) Class 1 - g.37092179_37092181del - Weber et al., 1997 MLH1_001056 - - Germline (inherited) - InSiGHT group
?/- 19 c.*35_*37del *+35delCTT r.(?) p.(=) Class 1 - g.37092179_37092181del - - MLH1_001056 - - Germline (inherited) - Ans van den Ouweland
?/- 19 c.*35_*37del - r.(?) p.(=) Class 1 - g.37092179_37092181del - Fredriksson et al., 2006 MLH1_001056 - - Germline (inherited) - Michael Woods
-/- 19 c.*35_*37del - r.(?) p.(=) Class 1 - g.37092179_37092181del - Tinat et al., 2008 MLH1_001056 - Authors describe this variant as not being the cause alteration in Lynch syndrome. Germline (inherited) - Michael Woods
?/- 19 c.*35_*37del - r.(?) p.(=) Class 1 - g.37092179_37092181del - Viel et al., 1997 MLH1_001056 - - Germline (inherited) - Michael Woods
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