| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.37050640_37050641dup | CA2499216727 | MLH1 | c.1822_1823dup (p.Leu608PhefsTer2) c.1964_1965dup (p.Glu656LeufsTer30) c.2051_2052dup (p.Glu685LeufsTer30) c.1535_1536dup (p.Glu513LeufsTer30) c.2165_2166dup (p.Glu723LeufsTer30) c.2093_2094dup (p.Glu699LeufsTer30) c.2258_2259dup (p.Glu754LeufsTer30) c.*1176_*1177dup (n.*1176_*1177dup) c.*2090_*2091dup (n.*2090_*2091dup) c.*1369_*1370dup (n.*1369_*1370dup) c.1202_1203dup (p.Glu402LeufsTer30) c.2046_2047dup n.1292_1293dup n.1640_1641dup c.*2050_*2051dup (n.*2050_*2051dup) c.1526_1527dup (p.Glu510LeufsTer30) c.*2398_*2399dup (n.*2398_*2399dup) c.*2136_*2137dup (n.*2136_*2137dup) c.*487_*488dup (n.*487_*488dup) n.969_970dup c.1535_1536dup (p.Glu513LeufsTer?) c.2026_2027dup c.1235_1236dup (p.Glu413LeufsTer30) c.1184_1185dup (p.Glu396LeufsTer30) c.2159_2160dup (p.Glu721LeufsTer30) | ClinVar dbSNP |
| 3 | g.37050641del | CA16611255 | MLH1 | c.1823del (p.Leu608Ter) c.1965del (p.Phe655LeufsTer30) c.2052del (p.Phe684LeufsTer30) c.1536del (p.Phe512LeufsTer30) c.2166del (p.Phe722LeufsTer30) c.2094del (p.Phe698LeufsTer30) c.2259del (p.Phe753LeufsTer30) c.*1177del (n.*1177del) c.*2091del (n.*2091del) c.*1370del (n.*1370del) c.1203del (p.Phe401LeufsTer30) c.2047del n.1293del n.1641del c.*2051del (n.*2051del) c.1527del (p.Phe509LeufsTer30) c.*2399del (n.*2399del) c.*2137del (n.*2137del) c.*488del (n.*488del) n.970del c.1536del (p.Phe512LeufsTer?) c.2027del c.1236del (p.Phe412LeufsTer30) c.1185del (p.Phe395LeufsTer30) c.2160del (p.Phe720LeufsTer30) | ClinVar dbSNP |