| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.37050561_37050564del | CA009014 | MLH1 | c.1743_1746del (p.Thr582SerfsTer4) c.1885_1888del (p.His629PhefsTer?) c.1972_1975del (p.His658PhefsTer?) c.1456_1459del (p.His486PhefsTer?) c.2086_2089del (p.His696PhefsTer?) c.2014_2017del (p.His672PhefsTer?) c.2179_2182del (p.His727PhefsTer?) c.*1097_*1100del (n.*1097_*1100del) c.*2011_*2014del (n.*2011_*2014del) c.*1290_*1293del (n.*1290_*1293del) c.1123_1126del (p.His375PhefsTer?) c.1967_1970del n.1213_1216del n.1561_1564del c.*1971_*1974del (n.*1971_*1974del) c.1447_1450del (p.His483PhefsTer?) c.*2319_*2322del (n.*2319_*2322del) c.*2057_*2060del (n.*2057_*2060del) c.*408_*411del (n.*408_*411del) n.890_893del c.1947_1950del c.1156_1159del (p.His386PhefsTer?) c.1105_1108del (p.His369PhefsTer?) c.2080_2083del (p.His694PhefsTer?) | ClinVar dbSNP |
| 3 | g.37050563_37050564del | CA009035 | MLH1 | c.1745_1746del (p.Thr582IlefsTer30) c.1887_1888del (p.Ile630SerfsTer4) c.1974_1975del (p.Ile659SerfsTer4) c.1458_1459del (p.Ile487SerfsTer4) c.2088_2089del (p.Ile697SerfsTer4) c.2016_2017del (p.Ile673SerfsTer4) c.2181_2182del (p.Ile728SerfsTer4) c.*1099_*1100del (n.*1099_*1100del) c.*2013_*2014del (n.*2013_*2014del) c.*1292_*1293del (n.*1292_*1293del) c.1125_1126del (p.Ile376SerfsTer4) c.1969_1970del n.1215_1216del n.1563_1564del c.*1973_*1974del (n.*1973_*1974del) c.1449_1450del (p.Ile484SerfsTer4) c.*2321_*2322del (n.*2321_*2322del) c.*2059_*2060del (n.*2059_*2060del) c.*410_*411del (n.*410_*411del) n.892_893del c.1949_1950del c.1158_1159del (p.Ile387SerfsTer4) c.1107_1108del (p.Ile370SerfsTer4) c.2082_2083del (p.Ile695SerfsTer4) | ClinVar dbSNP |