Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.37050536_37050537dup | CA008931 | MLH1 | c.1718_1719dup (p.Leu574HisfsTer4) c.1860_1861dup (p.Ile621ThrfsTer?) c.1947_1948dup (p.Ile650ThrfsTer?) c.1431_1432dup (p.Ile478ThrfsTer?) c.2061_2062dup (p.Ile688ThrfsTer?) c.1989_1990dup (p.Ile664ThrfsTer?) c.2154_2155dup (p.Ile719ThrfsTer?) c.*1072_*1073dup (n.*1072_*1073dup) c.*1986_*1987dup (n.*1986_*1987dup) c.*1265_*1266dup (n.*1265_*1266dup) c.1098_1099dup (p.Ile367ThrfsTer?) c.1942_1943dup n.1188_1189dup n.1536_1537dup c.*1946_*1947dup (n.*1946_*1947dup) c.1422_1423dup (p.Ile475ThrfsTer?) c.*2294_*2295dup (n.*2294_*2295dup) c.*2032_*2033dup (n.*2032_*2033dup) c.*383_*384dup (n.*383_*384dup) n.865_866dup c.1922_1923dup c.1131_1132dup (p.Ile378ThrfsTer?) c.1080_1081dup (p.Ile361ThrfsTer?) c.2055_2056dup (p.Ile686ThrfsTer?) | ClinVar dbSNP |
3 | g.37050536_37050537del | CA008906 | MLH1 | c.1718_1719del (p.Thr573IlefsTer?) c.1860_1861del (p.Ile621CysfsTer3) c.*46_*47del (n.*46_*47del) c.1947_1948del (p.Ile650CysfsTer3) c.1431_1432del (p.Ile478CysfsTer3) c.2061_2062del (p.Ile688CysfsTer3) c.1989_1990del (p.Ile664CysfsTer3) c.2154_2155del (p.Ile719CysfsTer3) c.*1072_*1073del (n.*1072_*1073del) c.*1986_*1987del (n.*1986_*1987del) c.*1265_*1266del (n.*1265_*1266del) c.1098_1099del (p.Ile367CysfsTer3) c.1942_1943del n.1188_1189del n.1536_1537del c.*1946_*1947del (n.*1946_*1947del) c.1422_1423del (p.Ile475CysfsTer3) c.*2294_*2295del (n.*2294_*2295del) c.*2032_*2033del (n.*2032_*2033del) c.*383_*384del (n.*383_*384del) n.865_866del c.341_342del (p.Thr114=) c.232_233del (n.232_233del) c.1922_1923del c.1131_1132del (p.Ile378CysfsTer3) c.1080_1081del (p.Ile361CysfsTer3) c.2055_2056del (p.Ile686CysfsTer3) | ClinVar dbSNP |