Transcript #00000001

Transcript name colon cancer, nonpolyposis type 2 (E. coli), transcript variant 1
Gene name MLH1 (mutL homolog 1)
Chromosome 3
Transcript - NCBI ID NM_000249.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000240.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

8023 entries on 81 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

InSiGHT Class     

Splicing/transcript expression     
?/? 1 c.37G>A - r.(?) p.(Glu13Lys) - -
?/? 1 c.65G>C - r.(?) p.(Gly22Ala) - -
?/? 10 c.802G>C - r.(?) p.(Glu268Gln) - -
?/? 10 c.821A>G - r.(?) p.(Lys274Arg) - -
?/? ? c.? Balanced translocation r.(?) p.? - -
?/+ 11i_19_ c.(1038+1_1039-1)_(*193_?)del - r.? p.? Class 5 -
+/+ 11i_19_ c.(1038+1_1039-1)_(*193_?)del del ex12-19 r.? p.? Class 5 -
+/+ 12i_19_ c.(1409+1_1410-1)_(*193_?)del del ex13-19 r.? p.? Class 5 -
?/+ 12i_19_ c.(1409+1_1410-1)_(*193_?)del Deletion of Exon 13-19 r.? p.? Class 5 -
?/+ 12i_19_ c.(1409+1_1410-1)_(*193_?)del Deletion of Exon 13-19 r.? p.? Class 5 -
?/+ 13i_19_ c.(1558+1_1559-1)_(*193_?)del Deletion of Exon 14-19 r.? p.? Class 5 -
?/+ 13i_19_ c.(1558+1_1559-1)_(*193_?)del Deletion of Exon 14-19 r.? p.? Class 5 -
?/+ 15i_19_ c.(1731+1_1732-1)_(*193_?)del Deletion of Exon 16-19 (>3.5kb) r.? p.? Class 5 -
?/+ 15i_19_ c.(1731+1_1732-1)_(*193_?)del Deletion of Exon 16-19 r.? p.? Class 5 -
?/+ 15i_19_ c.(1731+1_1732-1)_(*193_?)del Deletion of Exon 16-19 r.? p.? Class 5 -
?/+ 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 -
?/+ 15i_19_ c.(1731+1_1732-1)_(*193_?)del Deletion of Exon 16-19 r.? p.? Class 5 -
+/+ 15i_19_ c.(1731+1_1732-1)_(*193_?)del Deletion of Exon 16-19 (>3.5kb) r.? p.? Class 5 -
?/+ 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 -
?/+ 17i_19_ c.(1989+1_1990-1)_(*193_?)del del Ex18-19, >3.4kb r.? p.? Class 5 -
?/+ 18i_19_ c.(2103+1_2104-1)_(*193_?)del Deletion of Exon 19 r.? p.? Class 5 -
?/? 18i_19_ c.(2103+1_2104-1)_(*193_?)dup Duplication of Exon 19 r.? p.? Class 3 -
+/+ 3i_19_ c.(306+1_307-1)_(*193_?)del del ex04-19 r.? p.? Class 5 -
?/+ 3i_19_ c.(306+1_307-1)_(*193_?)del Deletion of Exon 4-19 r.? p.? Class 5 -
?/+ 10i_19i c.(884+1_885-1)_(*193_?)del Deletion of Exon 11-19 r.? p.? Class 5 -
+/+ - c.(?_-198)_(*193_?)del c.1-?_2271+?del Whole gene deletion r.(?) p.? Class 5 -
+/+ - c.(?_-198)_(*193_?)del c.1-?_2271+?del Whole gene deletion r.(?) p.? Class 5 -
+/+ - c.(?_-198)_(*193_?)del c.1-?_2271+?del Whole gene deletion r.(?) p.? Class 5 -
?/+ _1_19_ c.(?_-198)_(*193_?)del c.1-?_2271+?del (Del ex01-19) r.0? p.0? Class 5 -
?/+ _1_19_ c.(?_-198)_(*193_?)del c.1-?_2271+?del (Del ex01-19 (123 Kb del)) r.0? p.0? Class 5 -
+/+ _1_19_ c.(?_-198)_(*193_?)del - r.0? p.0? Class 5 -
?/+ _1_19_ c.(?_-198)_(*193_?)del del Ex1-19, >57kb r.0? p.0? Class 5 -
?/+ _1_19_ c.(?_-198)_(*193_?)del Deletion of MLH1 r.0? p.0? Class 5 -
?/+ _1_19_ c.(?_-198)_(*193_?)del Deletion of MLH1 r.0? p.0? Class 5 -
?/+ _1_19_ c.(?_-198)_(*193_?)del Deletion of MLH1 r.0? p.0? Class 5 -
?/+ _1_19_ c.(?_-198)_(*193_?)del Deletion of Exon 1-19 r.0? p.0? Class 5 -
+/+ _1_19_ c.(?_-198)_(*193_?)del - r.0? p.0? Class 5 -
?/+ _1_11i c.(?_-198)_(1038+1_1039-1)del Exon 1 to Exon 11 (c.1-?_1038+?del) r.0? p.0? Class 5 -
?/+ _1_1i c.(?_-198)_(116+1_117-1)del Deletion of Exon 1 r.0? p.0? Class 5 -
?/+ _1_1i c.(?_-198)_(116+1_117-1)del Deletion of Exon 1 r.0? p.0? Class 5 -
?/+ _1_1i c.(?_-198)_(116+1_117-1)del Deletion of Exon 1 r.0? p.0? Class 5 -
?/? _1_1i c.(?_-198)_(116+1_117-1)dup Duplication of Exon 1 r.0? p.0? Class 3 -
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del c.(?_-198)_1558+?del r.0? p.0? Class 5 -
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del c.(?_-198)_1558+?del r.0? p.0? Class 5 -
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del c.(?_-198)_1558+?del r.0? p.0? Class 5 -
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del Deletion of Exon 1-13 r.0? p.0? Class 5 -
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del del Ex1-13 r.0? p.0? Class 5 -
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del Deletion of Exon 1-13 r.0? p.0? Class 5 -
?/+ _1_13i c.(?_-198)_(1558+1_1559-1)del Deletion of Exon 1-13 r.0? p.0? Class 5 -
?/+ _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 -
?/+ _1_15i c.(?_-198)_(1731+1_1732-1)del Deletion of Exon 1-15 r.0? p.0? Class 5 -
?/+ _1_15i c.(?_-198)_(1731+1_1732-1)del Deletion of Exon 1-15 r.0? p.0? Class 5 -
?/+ _1_15i c.(?_-198)_(1731+1_1732-1)del Deletion of Exon 1-15 r.0? p.0? Class 5 -
?/+ _1_15i c.(?_-198)_(1731+1_1732-1)del Deletion of Exon 1-15 r.0? p.0? Class 5 -
?/+ _1_15i c.(?_-198)_(1731+1_1732-1)del Deletion of Exon 1-15 r.0? p.0? Class 5 -
+/+ _1_15i c.(?_-198)_(1731+1_1732-1)del del ex1-15 r.0? p.0? Class 5 -
?/+ _1_15i c.(?_-198)_(1731+1_1732-1)del c.(?_-198)_1731+?del r.0? p.0? Class 5 -
?/+ _1_2i c.(?_-198)_(207+1_208-1)del c.(?_-198)_207+?del r.0? p.0? Class 5 -
?/+ _1_2i c.(?_-198)_(207+1_208-1)del Deletion of Exon 1-2 r.0? p.0? Class 5 -
?/+ _1_2i c.(?_-198)_(207+1_208-1)del Deletion of Exon 1-2 r.0? p.0? Class 5 -
?/+ _1_2i c.(?_-198)_(207+1_208-1)del Deletion of Exon 1-2 r.0? p.0? Class 5 -
?/+ _1_3i c.(?_-198)_(306+1_307-1)del Deletion of Exon 1-3 r.0? p.0? Class 5 -
+/+ _1_3i c.(?_-198)_(306+1_307-1)del Deletion of Exon 1-3 r.0? p.0? Class 5 -
?/+ _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 -
?/+ _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 -
?/+ _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 -
?/+ _1_6i c.(?_-198)_(545+1_546-1)del - r.0? p.0? Class 5 -
?/+ _1_6i c.(?_-198)_(545+1_546-1)del Deletion of Exon 1-6 r.0? p.0? Class 5 -
?/+ _1_6i c.(?_-198)_(545+1_546-1)del MLH1 exon 1-6 del phase unknown r.0? p.0? Class 5 -
+/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion E1-10 r.0? p.0? Class 5 -
+/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion E1-10 r.0? p.0? Class 5 -
+/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion E1-10 r.0? p.0? Class 5 -
+/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion E1-10 r.0? p.0? Class 5 -
+/+ _1_10i c.(?_-198)_(884+1_885-1)del ex01_ex10del r.0? p.0? Class 5 -
?/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion of Exon 1-10 r.0? p.0? Class 5 -
?/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion of Exon 1-10 r.0? p.0? Class 5 -
?/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion of Exon 1-10 r.0? p.0? Class 5 -
?/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion of Exon 1-10 r.0? p.0? Class 5 -
?/+ _1_10i c.(?_-198)_(884+1_885-1)del Deletion of Exon 1-10 r.0? p.0? Class 5 -
+/+ - c.(?_-198)_1731+?del c.1-?_1731+?del Deletion exons 1–15 r.(?) p.? Class 5 -
+/+ - c.(?_-198)_306+?del c.1-?_306+?del Deletion exons 1–3 r.(?) p.? Class 5 -
+/+ - c.(?_-198)_306+?del c.1-?_306+?del Deletion exons 1–3 r.(?) p.? Class 5 -
+/+ - c.(?_-198)_306+?del c.1-?_306+?del Deletion exons 1–3 r.(?) p.? Class 5 -
?/? 19 c.*167T>A Authors describe this as A>T at 2438 r.(?) p.(=) Class 3 -
?/? 19 c.*167T>A - r.(?) p.(=) Class 3 -
?/- 19 c.*2926C>T - r.(?) p.(=) Class 1 -
?/- 19 c.*2926C>T - r.(?) p.(=) Class 1 -
?/- 19 c.*35_*37del Authors describe this as c.2268+33_2268+35delTTC. r.(?) p.(=) Class 1 -
?/- 19 c.*35_*37del - r.(?) p.(=) Class 1 -
?/- 19 c.*35_*37del - r.(?) p.(=) Class 1 -
?/- 19 c.*35_*37del - r.(?) p.(=) Class 1 -
-?/- 19 c.*35_*37del - r.(?) p.(=) Class 1 -
-?/- 19 c.*35_*37del - r.(?) p.(=) Class 1 -
?/- 19 c.*35_*37del del ttc at 2268+33 r.(?) p.(=) Class 1 -
?/- 19 c.*35_*37del del ttc at 2268+33 r.(?) p.(=) Class 1 -
?/- 19 c.*35_*37del del ttc at 2268+33 r.(?) p.(=) Class 1 -
?/- 19 c.*35_*37del *+35delCTT r.(?) p.(=) Class 1 -
?/- 19 c.*35_*37del - r.(?) p.(=) Class 1 -
-/- 19 c.*35_*37del - r.(?) p.(=) Class 1 -
?/- 19 c.*35_*37del - r.(?) p.(=) Class 1 -
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