| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.37019716_37021586del | CA331161 | MLH1 | c.885-594_1038+1123del c.591-594_744+1123del c.884+2117_884+3987del (n.884+2117_884+3987del) c.162-594_315+1123del c.67+5172_68-4051del (n.67+5172_68-4051del) c.*870+5172_*871-4051del (n.*870+5172_*871-4051del) n.693-594_846+1123del c.428-594_*149+1123del c.838-594_991+1123del n.916-594_1069+1123del n.267-594_420+1123del c.*677-594_*830+1123del c.677+7617_678-7198del (n.677+7617_678-7198del) c.*1025-594_*1178+1123del c.*763-594_*916+1123del n.776-594_929+1123del n.733-594_886+1123del c.113+5172_114-4051del c.172-594_325+1123del c.860-594_1013+1123del c.225+2117_225+3987del c.678-594_831+1123del c.-139-594_15+1123del c.-37+5172_-36-4051del (n.-37+5172_-36-4051del) c.786-594_939+1123del | ClinVar |
| 3 | g.37019817_37025265del | CA331160 | MLH1 | c.885-493_1039-372del c.591-493_745-372del c.884+2218_885-372del (n.884+2218_885-372del) c.162-493_316-372del c.67+5273_68-372del (n.67+5273_68-372del) c.*870+5273_*871-372del (n.*870+5273_*871-372del) n.693-493_847-372del c.428-493_*150-372del c.838-493_992-372del n.916-493_1163-372del n.267-493_421-372del c.*677-493_*831-372del c.677+7718_678-3519del (n.677+7718_678-3519del) c.*1025-493_*1179-372del c.*763-493_*917-372del n.776-493_930-372del n.733-493_887-372del c.113+5273_114-372del c.172-493_326-372del c.860-493_1014-372del c.225+2218_226-372del c.678-493_832-372del c.-139-493_16-372del c.-37+5273_-36-372del (n.-37+5273_-36-372del) c.786-493_940-372del | ClinVar |
| 3 | g.37020102_37020421delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC | CA1357876801 | MLH1 | c.885-208_996delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC c.591-208_702delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC c.884+2503_884+2822delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC (n.884+2503_884+2822delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC) c.162-208_273delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC c.68-5535_68-5216delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC (n.68-5535_68-5216delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC) c.*871-5535_*871-5216delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC (n.*871-5535_*871-5216delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC) n.693-208_804delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC c.428-208_*107delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC c.838-208_949delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC n.916-208_1027delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC n.267-208_378delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC c.*677-208_*788delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC c.677+8003_677+8322delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC (n.677+8003_677+8322delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC) c.*1025-208_*1136delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC c.*763-208_*874delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC n.776-208_887delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC n.733-208_844delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC c.114-5535_114-5216delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC c.172-208_283delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC c.860-208_971delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC c.225+2503_225+2822delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC c.678-208_789delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC c.-139-208_-28delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC c.-36-5535_-36-5216delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC (n.-36-5535_-36-5216delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC) c.786-208_897delinsGAGGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAGAGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGC | |
| 3 | g.37020104_37020422del | CA331159 | MLH1 | c.885-206_997del c.591-206_703del c.884+2505_884+2823del (n.884+2505_884+2823del) c.162-206_274del c.68-5533_68-5215del (n.68-5533_68-5215del) c.*871-5533_*871-5215del (n.*871-5533_*871-5215del) n.693-206_805del c.428-206_*108del c.838-206_950del n.916-206_1028del n.267-206_379del c.*677-206_*789del c.677+8005_677+8323del (n.677+8005_677+8323del) c.*1025-206_*1137del c.*763-206_*875del n.776-206_888del n.733-206_845del c.114-5533_114-5215del c.172-206_284del c.860-206_972del c.225+2505_225+2823del c.678-206_790del c.-139-206_-27del c.-36-5533_-36-5215del (n.-36-5533_-36-5215del) c.786-206_898del | ClinVar dbSNP |
| 3 | g.37020285_37020439delinsCA | CA2580069675 | MLH1 | c.885-25_1014delinsCA c.591-25_720delinsCA c.884+2686_884+2840delinsCA (n.884+2686_884+2840delinsCA) c.162-25_291delinsCA c.68-5352_68-5198delinsCA (n.68-5352_68-5198delinsCA) c.*871-5352_*871-5198delinsCA (n.*871-5352_*871-5198delinsCA) n.693-25_822delinsCA c.428-25_*125delinsCA c.838-25_967delinsCA n.916-25_1045delinsCA n.267-25_396delinsCA c.*677-25_*806delinsCA c.677+8186_677+8340delinsCA (n.677+8186_677+8340delinsCA) c.*1025-25_*1154delinsCA c.*763-25_*892delinsCA n.776-25_905delinsCA n.733-25_862delinsCA c.114-5352_114-5198delinsCA c.172-25_301delinsCA c.860-25_989delinsCA c.225+2686_225+2840delinsCA c.678-25_807delinsCA c.-139-25_-10delinsCA c.-36-5352_-36-5198delinsCA (n.-36-5352_-36-5198delinsCA) c.786-25_915delinsCA | ClinVar |
| 3 | g.37020317_37020330del | CA2580069679 | MLH1 | c.892_905del (p.Ile298CysfsTer4) c.598_611del (p.Ile200CysfsTer4) c.884+2718_884+2731del (n.884+2718_884+2731del) c.169_182del (p.Ile57CysfsTer4) c.68-5320_68-5307del (n.68-5320_68-5307del) c.*871-5320_*871-5307del (n.*871-5320_*871-5307del) n.700_713del c.*3_*16del (n.*3_*16del) c.845_858del n.923_936del n.274_287del c.*684_*697del (n.*684_*697del) c.677+8218_677+8231del (n.677+8218_677+8231del) c.*1032_*1045del (n.*1032_*1045del) c.*770_*783del (n.*770_*783del) n.783_796del n.740_753del c.114-5320_114-5307del c.179_192del c.867_880del c.225+2718_225+2731del c.685_698del (p.Ile229CysfsTer4) c.-132_-119del (n.-132_-119del) c.-36-5320_-36-5307del (n.-36-5320_-36-5307del) c.793_806del (p.Ile265CysfsTer4) | ClinVar |
| 3 | g.37020320_37020331delinsAGTCCCCAGAAT | CA1357877110 | MLH1 | c.895_906delinsAGTCCCCAGAAT (p.Ser299=) c.601_612delinsAGTCCCCAGAAT (p.Ser201=) c.884+2721_884+2732delinsAGTCCCCAGAAT (n.884+2721_884+2732delinsAGTCCCCAGAAT) c.172_183delinsAGTCCCCAGAAT (p.Ser58=) c.68-5317_68-5306delinsAGTCCCCAGAAT (n.68-5317_68-5306delinsAGTCCCCAGAAT) c.*871-5317_*871-5306delinsAGTCCCCAGAAT (n.*871-5317_*871-5306delinsAGTCCCCAGAAT) n.703_714delinsAGTCCCCAGAAT c.*6_*17delinsAGTCCCCAGAAT (n.*6_*17delinsAGTCCCCAGAAT) c.848_859delinsAGTCCCCAGAAT n.926_937delinsAGTCCCCAGAAT n.277_288delinsAGTCCCCAGAAT c.*687_*698delinsAGTCCCCAGAAT (n.*687_*698delinsAGTCCCCAGAAT) c.677+8221_677+8232delinsAGTCCCCAGAAT (n.677+8221_677+8232delinsAGTCCCCAGAAT) c.*1035_*1046delinsAGTCCCCAGAAT (n.*1035_*1046delinsAGTCCCCAGAAT) c.*773_*784delinsAGTCCCCAGAAT (n.*773_*784delinsAGTCCCCAGAAT) n.786_797delinsAGTCCCCAGAAT n.743_754delinsAGTCCCCAGAAT c.114-5317_114-5306delinsAGTCCCCAGAAT c.182_193delinsAGTCCCCAGAAT c.870_881delinsAGTCCCCAGAAT c.225+2721_225+2732delinsAGTCCCCAGAAT c.688_699delinsAGTCCCCAGAAT (p.Ser230=) c.-129_-118delinsAGTCCCCAGAAT (n.-129_-118delinsAGTCCCCAGAAT) c.-36-5317_-36-5306delinsAGTCCCCAGAAT (n.-36-5317_-36-5306delinsAGTCCCCAGAAT) c.796_807delinsAGTCCCCAGAAT (p.Ser266=) | |
| 3 | g.37020323_37020333del | CA645372721 | MLH1 | c.898_908del (p.Pro300GlyfsTer3) c.604_614del (p.Pro202GlyfsTer3) c.884+2724_884+2734del (n.884+2724_884+2734del) c.175_185del (p.Pro59GlyfsTer3) c.68-5314_68-5304del (n.68-5314_68-5304del) c.*871-5314_*871-5304del (n.*871-5314_*871-5304del) n.706_716del c.*9_*19del (n.*9_*19del) c.851_861del n.929_939del n.280_290del c.*690_*700del (n.*690_*700del) c.677+8224_677+8234del (n.677+8224_677+8234del) c.*1038_*1048del (n.*1038_*1048del) c.*776_*786del (n.*776_*786del) n.789_799del n.746_756del c.114-5314_114-5304del c.185_195del c.873_883del c.225+2724_225+2734del c.691_701del (p.Pro231GlyfsTer3) c.-126_-116del (n.-126_-116del) c.-36-5314_-36-5304del (n.-36-5314_-36-5304del) c.799_809del (p.Pro267GlyfsTer3) | ClinVar dbSNP |
| 3 | g.37020327_37020334delinsAGAATGTG | CA1357877148 | MLH1 | c.902_909delinsAGAATGTG (p.Gln301=) c.608_615delinsAGAATGTG (p.Gln203=) c.884+2728_884+2735delinsAGAATGTG (n.884+2728_884+2735delinsAGAATGTG) c.179_186delinsAGAATGTG (p.Gln60=) c.68-5310_68-5303delinsAGAATGTG (n.68-5310_68-5303delinsAGAATGTG) c.*871-5310_*871-5303delinsAGAATGTG (n.*871-5310_*871-5303delinsAGAATGTG) n.710_717delinsAGAATGTG c.*13_*20delinsAGAATGTG (n.*13_*20delinsAGAATGTG) c.855_862delinsAGAATGTG n.933_940delinsAGAATGTG n.284_291delinsAGAATGTG c.*694_*701delinsAGAATGTG (n.*694_*701delinsAGAATGTG) c.677+8228_677+8235delinsAGAATGTG (n.677+8228_677+8235delinsAGAATGTG) c.*1042_*1049delinsAGAATGTG (n.*1042_*1049delinsAGAATGTG) c.*780_*787delinsAGAATGTG (n.*780_*787delinsAGAATGTG) n.793_800delinsAGAATGTG n.750_757delinsAGAATGTG c.114-5310_114-5303delinsAGAATGTG c.189_196delinsAGAATGTG c.877_884delinsAGAATGTG c.225+2728_225+2735delinsAGAATGTG c.695_702delinsAGAATGTG (p.Gln232=) c.-122_-115delinsAGAATGTG (n.-122_-115delinsAGAATGTG) c.-36-5310_-36-5303delinsAGAATGTG (n.-36-5310_-36-5303delinsAGAATGTG) c.803_810delinsAGAATGTG (p.Gln268=) | |
| 3 | g.37020330_37020336del | CA1139655793 | MLH1 | c.905_911del (p.Asn302MetfsTer?) c.611_617del (p.Asn204MetfsTer?) c.884+2731_884+2737del (n.884+2731_884+2737del) c.182_188del (p.Asn61MetfsTer?) c.68-5307_68-5301del (n.68-5307_68-5301del) c.*871-5307_*871-5301del (n.*871-5307_*871-5301del) n.713_719del c.*16_*22del (n.*16_*22del) c.858_864del n.936_942del n.287_293del c.*697_*703del (n.*697_*703del) c.677+8231_677+8237del (n.677+8231_677+8237del) c.*1045_*1051del (n.*1045_*1051del) c.*783_*789del (n.*783_*789del) n.796_802del n.753_759del c.114-5307_114-5301del c.192_198del c.880_886del c.225+2731_225+2737del c.698_704del (p.Asn233MetfsTer?) c.-119_-113del (n.-119_-113del) c.-36-5307_-36-5301del (n.-36-5307_-36-5301del) c.806_812del (p.Asn269MetfsTer?) | ClinVar dbSNP |
| 3 | g.37020329A>C | CA352048472 | MLH1 | c.904A>C (p.Asn302His) c.610A>C (p.Asn204His) c.884+2730A>C (n.884+2730A>C) c.181A>C (p.Asn61His) c.68-5308A>C (n.68-5308A>C) c.*871-5308A>C (n.*871-5308A>C) n.712A>C c.*15A>C (n.*15A>C) c.857A>C n.935A>C n.286A>C c.*696A>C (n.*696A>C) c.677+8230A>C (n.677+8230A>C) c.*1044A>C (n.*1044A>C) c.*782A>C (n.*782A>C) n.795A>C n.752A>C c.114-5308A>C c.191A>C c.879A>C c.225+2730A>C c.697A>C (p.Asn233His) c.-120A>C (n.-120A>C) c.-36-5308A>C (n.-36-5308A>C) c.805A>C (p.Asn269His) | |
| 3 | g.37020329A>G | CA352048475 | MLH1 | c.904A>G (p.Asn302Asp) c.610A>G (p.Asn204Asp) c.884+2730A>G (n.884+2730A>G) c.181A>G (p.Asn61Asp) c.68-5308A>G (n.68-5308A>G) c.*871-5308A>G (n.*871-5308A>G) n.712A>G c.*15A>G (n.*15A>G) c.857A>G n.935A>G n.286A>G c.*696A>G (n.*696A>G) c.677+8230A>G (n.677+8230A>G) c.*1044A>G (n.*1044A>G) c.*782A>G (n.*782A>G) n.795A>G n.752A>G c.114-5308A>G c.191A>G c.879A>G c.225+2730A>G c.697A>G (p.Asn233Asp) c.-120A>G (n.-120A>G) c.-36-5308A>G (n.-36-5308A>G) c.805A>G (p.Asn269Asp) | gnomAD v4 |
| 3 | g.37020329A>T | CA352048476 | MLH1 | c.904A>T (p.Asn302Tyr) c.610A>T (p.Asn204Tyr) c.884+2730A>T (n.884+2730A>T) c.181A>T (p.Asn61Tyr) c.68-5308A>T (n.68-5308A>T) c.*871-5308A>T (n.*871-5308A>T) n.712A>T c.*15A>T (n.*15A>T) c.857A>T n.935A>T n.286A>T c.*696A>T (n.*696A>T) c.677+8230A>T (n.677+8230A>T) c.*1044A>T (n.*1044A>T) c.*782A>T (n.*782A>T) n.795A>T n.752A>T c.114-5308A>T c.191A>T c.879A>T c.225+2730A>T c.697A>T (p.Asn233Tyr) c.-120A>T (n.-120A>T) c.-36-5308A>T (n.-36-5308A>T) c.805A>T (p.Asn269Tyr) | dbSNP |
| 3 | g.37020330del | CA2580069684 | MLH1 | c.905del (p.Asn302MetfsTer?) c.611del (p.Asn204MetfsTer?) c.884+2731del (n.884+2731del) c.182del (p.Asn61MetfsTer?) c.68-5307del (n.68-5307del) c.*871-5307del (n.*871-5307del) n.713del c.*16del (n.*16del) c.858del n.936del n.287del c.*697del (n.*697del) c.677+8231del (n.677+8231del) c.*1045del (n.*1045del) c.*783del (n.*783del) n.796del n.753del c.114-5307del c.192del c.880del c.225+2731del c.698del (p.Asn233MetfsTer?) c.-119del (n.-119del) c.-36-5307del (n.-36-5307del) c.806del (p.Asn269MetfsTer?) | ClinVar |
| 3 | g.37020330A>C | CA352048477 | MLH1 | c.905A>C (p.Asn302Thr) c.611A>C (p.Asn204Thr) c.884+2731A>C (n.884+2731A>C) c.182A>C (p.Asn61Thr) c.68-5307A>C (n.68-5307A>C) c.*871-5307A>C (n.*871-5307A>C) n.713A>C c.*16A>C (n.*16A>C) c.858A>C n.936A>C n.287A>C c.*697A>C (n.*697A>C) c.677+8231A>C (n.677+8231A>C) c.*1045A>C (n.*1045A>C) c.*783A>C (n.*783A>C) n.796A>C n.753A>C c.114-5307A>C c.192A>C c.880A>C c.225+2731A>C c.698A>C (p.Asn233Thr) c.-119A>C (n.-119A>C) c.-36-5307A>C (n.-36-5307A>C) c.806A>C (p.Asn269Thr) | ClinVar dbSNP |
| 3 | g.37020330A>G | CA352048481 | MLH1 | c.905A>G (p.Asn302Ser) c.611A>G (p.Asn204Ser) c.884+2731A>G (n.884+2731A>G) c.182A>G (p.Asn61Ser) c.68-5307A>G (n.68-5307A>G) c.*871-5307A>G (n.*871-5307A>G) n.713A>G c.*16A>G (n.*16A>G) c.858A>G n.936A>G n.287A>G c.*697A>G (n.*697A>G) c.677+8231A>G (n.677+8231A>G) c.*1045A>G (n.*1045A>G) c.*783A>G (n.*783A>G) n.796A>G n.753A>G c.114-5307A>G c.192A>G c.880A>G c.225+2731A>G c.698A>G (p.Asn233Ser) c.-119A>G (n.-119A>G) c.-36-5307A>G (n.-36-5307A>G) c.806A>G (p.Asn269Ser) | ClinVar dbSNP |
| 3 | g.37020330A>T | CA352048483 | MLH1 | c.905A>T (p.Asn302Ile) c.611A>T (p.Asn204Ile) c.884+2731A>T (n.884+2731A>T) c.182A>T (p.Asn61Ile) c.68-5307A>T (n.68-5307A>T) c.*871-5307A>T (n.*871-5307A>T) n.713A>T c.*16A>T (n.*16A>T) c.858A>T n.936A>T n.287A>T c.*697A>T (n.*697A>T) c.677+8231A>T (n.677+8231A>T) c.*1045A>T (n.*1045A>T) c.*783A>T (n.*783A>T) n.796A>T n.753A>T c.114-5307A>T c.192A>T c.880A>T c.225+2731A>T c.698A>T (p.Asn233Ile) c.-119A>T (n.-119A>T) c.-36-5307A>T (n.-36-5307A>T) c.806A>T (p.Asn269Ile) | |
| 3 | g.37020330_37020332delinsATG | CA1357877157 | MLH1 | c.905_907delinsATG (p.Asn302=) c.611_613delinsATG (p.Asn204=) c.884+2731_884+2733delinsATG (n.884+2731_884+2733delinsATG) c.182_184delinsATG (p.Asn61=) c.68-5307_68-5305delinsATG (n.68-5307_68-5305delinsATG) c.*871-5307_*871-5305delinsATG (n.*871-5307_*871-5305delinsATG) n.713_715delinsATG c.*16_*18delinsATG (n.*16_*18delinsATG) c.858_860delinsATG n.936_938delinsATG n.287_289delinsATG c.*697_*699delinsATG (n.*697_*699delinsATG) c.677+8231_677+8233delinsATG (n.677+8231_677+8233delinsATG) c.*1045_*1047delinsATG (n.*1045_*1047delinsATG) c.*783_*785delinsATG (n.*783_*785delinsATG) n.796_798delinsATG n.753_755delinsATG c.114-5307_114-5305delinsATG c.192_194delinsATG c.880_882delinsATG c.225+2731_225+2733delinsATG c.698_700delinsATG (p.Asn233=) c.-119_-117delinsATG (n.-119_-117delinsATG) c.-36-5307_-36-5305delinsATG (n.-36-5307_-36-5305delinsATG) c.806_808delinsATG (p.Asn269=) | |
| 3 | g.37020331T>A | CA352048484 | MLH1 | c.906T>A (p.Asn302Lys) c.612T>A (p.Asn204Lys) c.884+2732T>A (n.884+2732T>A) c.183T>A (p.Asn61Lys) c.68-5306T>A (n.68-5306T>A) c.*871-5306T>A (n.*871-5306T>A) n.714T>A c.*17T>A (n.*17T>A) c.859T>A n.937T>A n.288T>A c.*698T>A (n.*698T>A) c.677+8232T>A (n.677+8232T>A) c.*1046T>A (n.*1046T>A) c.*784T>A (n.*784T>A) n.797T>A n.754T>A c.114-5306T>A c.193T>A c.881T>A c.225+2732T>A c.699T>A (p.Asn233Lys) c.-118T>A (n.-118T>A) c.-36-5306T>A (n.-36-5306T>A) c.807T>A (p.Asn269Lys) | dbSNP |
| 3 | g.37020331T>C | CA16611408 | MLH1 | c.906T>C (p.Asn302=) c.612T>C (p.Asn204=) c.884+2732T>C (n.884+2732T>C) c.183T>C (p.Asn61=) c.68-5306T>C (n.68-5306T>C) c.*871-5306T>C (n.*871-5306T>C) n.714T>C c.*17T>C (n.*17T>C) c.859T>C n.937T>C n.288T>C c.*698T>C (n.*698T>C) c.677+8232T>C (n.677+8232T>C) c.*1046T>C (n.*1046T>C) c.*784T>C (n.*784T>C) n.797T>C n.754T>C c.114-5306T>C c.193T>C c.881T>C c.225+2732T>C c.699T>C (p.Asn233=) c.-118T>C (n.-118T>C) c.-36-5306T>C (n.-36-5306T>C) c.807T>C (p.Asn269=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.37020331T>G | CA352048487 | MLH1 | c.906T>G (p.Asn302Lys) c.612T>G (p.Asn204Lys) c.884+2732T>G (n.884+2732T>G) c.183T>G (p.Asn61Lys) c.68-5306T>G (n.68-5306T>G) c.*871-5306T>G (n.*871-5306T>G) n.714T>G c.*17T>G (n.*17T>G) c.859T>G n.937T>G n.288T>G c.*698T>G (n.*698T>G) c.677+8232T>G (n.677+8232T>G) c.*1046T>G (n.*1046T>G) c.*784T>G (n.*784T>G) n.797T>G n.754T>G c.114-5306T>G c.193T>G c.881T>G c.225+2732T>G c.699T>G (p.Asn233Lys) c.-118T>G (n.-118T>G) c.-36-5306T>G (n.-36-5306T>G) c.807T>G (p.Asn269Lys) | |
| 3 | g.37020331T= | CA1357877162 | MLH1 | c.906T= (p.Asn302=) c.612T= (p.Asn204=) c.884+2732T= (n.884+2732T=) c.183T= (p.Asn61=) c.68-5306T= (n.68-5306T=) c.*871-5306T= (n.*871-5306T=) n.714T= c.*17T= (n.*17T=) c.859T= n.937T= n.288T= c.*698T= (n.*698T=) c.677+8232T= (n.677+8232T=) c.*1046T= (n.*1046T=) c.*784T= (n.*784T=) n.797T= n.754T= c.114-5306T= c.193T= c.881T= c.225+2732T= c.699T= (p.Asn233=) c.-118T= (n.-118T=) c.-36-5306T= (n.-36-5306T=) c.807T= (p.Asn269=) | |
| 3 | g.37020333_37020334del | CA645372722 | MLH1 | c.908_909del (p.Val303GlyfsTer3) c.614_615del (p.Val205GlyfsTer3) c.884+2734_884+2735del (n.884+2734_884+2735del) c.185_186del (p.Val62GlyfsTer3) c.68-5304_68-5303del (n.68-5304_68-5303del) c.*871-5304_*871-5303del (n.*871-5304_*871-5303del) n.716_717del c.*19_*20del (n.*19_*20del) c.861_862del n.939_940del n.290_291del c.*700_*701del (n.*700_*701del) c.677+8234_677+8235del (n.677+8234_677+8235del) c.*1048_*1049del (n.*1048_*1049del) c.*786_*787del (n.*786_*787del) n.799_800del n.756_757del c.114-5304_114-5303del c.195_196del c.883_884del c.225+2734_225+2735del c.701_702del (p.Val234GlyfsTer3) c.-116_-115del (n.-116_-115del) c.-36-5304_-36-5303del (n.-36-5304_-36-5303del) c.809_810del (p.Val270GlyfsTer3) | ClinVar dbSNP |
| 3 | g.37020332G>A | CA352048496 | MLH1 | c.907G>A (p.Val303Met) c.613G>A (p.Val205Met) c.884+2733G>A (n.884+2733G>A) c.184G>A (p.Val62Met) c.68-5305G>A (n.68-5305G>A) c.*871-5305G>A (n.*871-5305G>A) n.715G>A c.*18G>A (n.*18G>A) c.860G>A n.938G>A n.289G>A c.*699G>A (n.*699G>A) c.677+8233G>A (n.677+8233G>A) c.*1047G>A (n.*1047G>A) c.*785G>A (n.*785G>A) n.798G>A n.755G>A c.114-5305G>A c.194G>A c.882G>A c.225+2733G>A c.700G>A (p.Val234Met) c.-117G>A (n.-117G>A) c.-36-5305G>A (n.-36-5305G>A) c.808G>A (p.Val270Met) | ClinVar |
| 3 | g.37020332G>C | CA352048493 | MLH1 | c.907G>C (p.Val303Leu) c.613G>C (p.Val205Leu) c.884+2733G>C (n.884+2733G>C) c.184G>C (p.Val62Leu) c.68-5305G>C (n.68-5305G>C) c.*871-5305G>C (n.*871-5305G>C) n.715G>C c.*18G>C (n.*18G>C) c.860G>C n.938G>C n.289G>C c.*699G>C (n.*699G>C) c.677+8233G>C (n.677+8233G>C) c.*1047G>C (n.*1047G>C) c.*785G>C (n.*785G>C) n.798G>C n.755G>C c.114-5305G>C c.194G>C c.882G>C c.225+2733G>C c.700G>C (p.Val234Leu) c.-117G>C (n.-117G>C) c.-36-5305G>C (n.-36-5305G>C) c.808G>C (p.Val270Leu) | ClinVar dbSNP |
| 3 | g.37020332G= | CA1357877169 | MLH1 | c.907G= (p.Val303=) c.613G= (p.Val205=) c.884+2733G= (n.884+2733G=) c.184G= (p.Val62=) c.68-5305G= (n.68-5305G=) c.*871-5305G= (n.*871-5305G=) n.715G= c.*18G= (n.*18G=) c.860G= n.938G= n.289G= c.*699G= (n.*699G=) c.677+8233G= (n.677+8233G=) c.*1047G= (n.*1047G=) c.*785G= (n.*785G=) n.798G= n.755G= c.114-5305G= c.194G= c.882G= c.225+2733G= c.700G= (p.Val234=) c.-117G= (n.-117G=) c.-36-5305G= (n.-36-5305G=) c.808G= (p.Val270=) | |
| 3 | g.37020332G>T | CA352048490 | MLH1 | c.907G>T (p.Val303Leu) c.613G>T (p.Val205Leu) c.884+2733G>T (n.884+2733G>T) c.184G>T (p.Val62Leu) c.68-5305G>T (n.68-5305G>T) c.*871-5305G>T (n.*871-5305G>T) n.715G>T c.*18G>T (n.*18G>T) c.860G>T n.938G>T n.289G>T c.*699G>T (n.*699G>T) c.677+8233G>T (n.677+8233G>T) c.*1047G>T (n.*1047G>T) c.*785G>T (n.*785G>T) n.798G>T n.755G>T c.114-5305G>T c.194G>T c.882G>T c.225+2733G>T c.700G>T (p.Val234Leu) c.-117G>T (n.-117G>T) c.-36-5305G>T (n.-36-5305G>T) c.808G>T (p.Val270Leu) | |
| 3 | g.37020333T>A | CA013026 | MLH1 | c.908T>A (p.Val303Glu) c.614T>A (p.Val205Glu) c.884+2734T>A (n.884+2734T>A) c.185T>A (p.Val62Glu) c.68-5304T>A (n.68-5304T>A) c.*871-5304T>A (n.*871-5304T>A) n.716T>A c.*19T>A (n.*19T>A) c.861T>A n.939T>A n.290T>A c.*700T>A (n.*700T>A) c.677+8234T>A (n.677+8234T>A) c.*1048T>A (n.*1048T>A) c.*786T>A (n.*786T>A) n.799T>A n.756T>A c.114-5304T>A c.195T>A c.883T>A c.225+2734T>A c.701T>A (p.Val234Glu) c.-116T>A (n.-116T>A) c.-36-5304T>A (n.-36-5304T>A) c.809T>A (p.Val270Glu) | dbSNP |
| 3 | g.37020333T>C | CA352048503 | MLH1 | c.908T>C (p.Val303Ala) c.614T>C (p.Val205Ala) c.884+2734T>C (n.884+2734T>C) c.185T>C (p.Val62Ala) c.68-5304T>C (n.68-5304T>C) c.*871-5304T>C (n.*871-5304T>C) n.716T>C c.*19T>C (n.*19T>C) c.861T>C n.939T>C n.290T>C c.*700T>C (n.*700T>C) c.677+8234T>C (n.677+8234T>C) c.*1048T>C (n.*1048T>C) c.*786T>C (n.*786T>C) n.799T>C n.756T>C c.114-5304T>C c.195T>C c.883T>C c.225+2734T>C c.701T>C (p.Val234Ala) c.-116T>C (n.-116T>C) c.-36-5304T>C (n.-36-5304T>C) c.809T>C (p.Val270Ala) | |
| 3 | g.37020333T>G | CA352048507 | MLH1 | c.908T>G (p.Val303Gly) c.614T>G (p.Val205Gly) c.884+2734T>G (n.884+2734T>G) c.185T>G (p.Val62Gly) c.68-5304T>G (n.68-5304T>G) c.*871-5304T>G (n.*871-5304T>G) n.716T>G c.*19T>G (n.*19T>G) c.861T>G n.939T>G n.290T>G c.*700T>G (n.*700T>G) c.677+8234T>G (n.677+8234T>G) c.*1048T>G (n.*1048T>G) c.*786T>G (n.*786T>G) n.799T>G n.756T>G c.114-5304T>G c.195T>G c.883T>G c.225+2734T>G c.701T>G (p.Val234Gly) c.-116T>G (n.-116T>G) c.-36-5304T>G (n.-36-5304T>G) c.809T>G (p.Val270Gly) | ClinVar dbSNP |
| 3 | g.37020333T= | CA1357877172 | MLH1 | c.908T= (p.Val303=) c.614T= (p.Val205=) c.884+2734T= (n.884+2734T=) c.185T= (p.Val62=) c.68-5304T= (n.68-5304T=) c.*871-5304T= (n.*871-5304T=) n.716T= c.*19T= (n.*19T=) c.861T= n.939T= n.290T= c.*700T= (n.*700T=) c.677+8234T= (n.677+8234T=) c.*1048T= (n.*1048T=) c.*786T= (n.*786T=) n.799T= n.756T= c.114-5304T= c.195T= c.883T= c.225+2734T= c.701T= (p.Val234=) c.-116T= (n.-116T=) c.-36-5304T= (n.-36-5304T=) c.809T= (p.Val270=) | |
| 3 | g.37020334G>A | CA433077319 | MLH1 | c.909G>A (p.Val303=) c.615G>A (p.Val205=) c.884+2735G>A (n.884+2735G>A) c.186G>A (p.Val62=) c.68-5303G>A (n.68-5303G>A) c.*871-5303G>A (n.*871-5303G>A) n.717G>A c.*20G>A (n.*20G>A) c.862G>A n.940G>A n.291G>A c.*701G>A (n.*701G>A) c.677+8235G>A (n.677+8235G>A) c.*1049G>A (n.*1049G>A) c.*787G>A (n.*787G>A) n.800G>A n.757G>A c.114-5303G>A c.196G>A c.884G>A c.225+2735G>A c.702G>A (p.Val234=) c.-115G>A (n.-115G>A) c.-36-5303G>A (n.-36-5303G>A) c.810G>A (p.Val270=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.37020334G>C | CA433077321 | MLH1 | c.909G>C (p.Val303=) c.615G>C (p.Val205=) c.884+2735G>C (n.884+2735G>C) c.186G>C (p.Val62=) c.68-5303G>C (n.68-5303G>C) c.*871-5303G>C (n.*871-5303G>C) n.717G>C c.*20G>C (n.*20G>C) c.862G>C n.940G>C n.291G>C c.*701G>C (n.*701G>C) c.677+8235G>C (n.677+8235G>C) c.*1049G>C (n.*1049G>C) c.*787G>C (n.*787G>C) n.800G>C n.757G>C c.114-5303G>C c.196G>C c.884G>C c.225+2735G>C c.702G>C (p.Val234=) c.-115G>C (n.-115G>C) c.-36-5303G>C (n.-36-5303G>C) c.810G>C (p.Val270=) | dbSNP |
| 3 | g.37020334G>T | CA433077323 | MLH1 | c.909G>T (p.Val303=) c.615G>T (p.Val205=) c.884+2735G>T (n.884+2735G>T) c.186G>T (p.Val62=) c.68-5303G>T (n.68-5303G>T) c.*871-5303G>T (n.*871-5303G>T) n.717G>T c.*20G>T (n.*20G>T) c.862G>T n.940G>T n.291G>T c.*701G>T (n.*701G>T) c.677+8235G>T (n.677+8235G>T) c.*1049G>T (n.*1049G>T) c.*787G>T (n.*787G>T) n.800G>T n.757G>T c.114-5303G>T c.196G>T c.884G>T c.225+2735G>T c.702G>T (p.Val234=) c.-115G>T (n.-115G>T) c.-36-5303G>T (n.-36-5303G>T) c.810G>T (p.Val270=) | |
| 3 | g.37020335dup | CA2497028724 | MLH1 | c.910dup (p.Asp304GlyfsTer3) c.616dup (p.Asp206GlyfsTer3) c.884+2736dup (n.884+2736dup) c.187dup (p.Asp63GlyfsTer3) c.68-5302dup (n.68-5302dup) c.*871-5302dup (n.*871-5302dup) n.718dup c.*21dup (n.*21dup) c.863dup n.941dup n.292dup c.*702dup (n.*702dup) c.677+8236dup (n.677+8236dup) c.*1050dup (n.*1050dup) c.*788dup (n.*788dup) n.801dup n.758dup c.114-5302dup c.197dup c.885dup c.225+2736dup c.703dup (p.Asp235GlyfsTer3) c.-114dup (n.-114dup) c.-36-5302dup (n.-36-5302dup) c.811dup (p.Asp271GlyfsTer3) | |
| 3 | g.37020335G>A | CA352048510 | MLH1 | c.910G>A (p.Asp304Asn) c.616G>A (p.Asp206Asn) c.884+2736G>A (n.884+2736G>A) c.187G>A (p.Asp63Asn) c.68-5302G>A (n.68-5302G>A) c.*871-5302G>A (n.*871-5302G>A) n.718G>A c.*21G>A (n.*21G>A) c.863G>A n.941G>A n.292G>A c.*702G>A (n.*702G>A) c.677+8236G>A (n.677+8236G>A) c.*1050G>A (n.*1050G>A) c.*788G>A (n.*788G>A) n.801G>A n.758G>A c.114-5302G>A c.197G>A c.885G>A c.225+2736G>A c.703G>A (p.Asp235Asn) c.-114G>A (n.-114G>A) c.-36-5302G>A (n.-36-5302G>A) c.811G>A (p.Asp271Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.37020335G>C | CA352048514 | MLH1 | c.910G>C (p.Asp304His) c.616G>C (p.Asp206His) c.884+2736G>C (n.884+2736G>C) c.187G>C (p.Asp63His) c.68-5302G>C (n.68-5302G>C) c.*871-5302G>C (n.*871-5302G>C) n.718G>C c.*21G>C (n.*21G>C) c.863G>C n.941G>C n.292G>C c.*702G>C (n.*702G>C) c.677+8236G>C (n.677+8236G>C) c.*1050G>C (n.*1050G>C) c.*788G>C (n.*788G>C) n.801G>C n.758G>C c.114-5302G>C c.197G>C c.885G>C c.225+2736G>C c.703G>C (p.Asp235His) c.-114G>C (n.-114G>C) c.-36-5302G>C (n.-36-5302G>C) c.811G>C (p.Asp271His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.37020335G= | CA1357877180 | MLH1 | c.910G= (p.Asp304=) c.616G= (p.Asp206=) c.884+2736G= (n.884+2736G=) c.187G= (p.Asp63=) c.68-5302G= (n.68-5302G=) c.*871-5302G= (n.*871-5302G=) n.718G= c.*21G= (n.*21G=) c.863G= n.941G= n.292G= c.*702G= (n.*702G=) c.677+8236G= (n.677+8236G=) c.*1050G= (n.*1050G=) c.*788G= (n.*788G=) n.801G= n.758G= c.114-5302G= c.197G= c.885G= c.225+2736G= c.703G= (p.Asp235=) c.-114G= (n.-114G=) c.-36-5302G= (n.-36-5302G=) c.811G= (p.Asp271=) | |
| 3 | g.37020335G>T | CA352048515 | MLH1 | c.910G>T (p.Asp304Tyr) c.616G>T (p.Asp206Tyr) c.884+2736G>T (n.884+2736G>T) c.187G>T (p.Asp63Tyr) c.68-5302G>T (n.68-5302G>T) c.*871-5302G>T (n.*871-5302G>T) n.718G>T c.*21G>T (n.*21G>T) c.863G>T n.941G>T n.292G>T c.*702G>T (n.*702G>T) c.677+8236G>T (n.677+8236G>T) c.*1050G>T (n.*1050G>T) c.*788G>T (n.*788G>T) n.801G>T n.758G>T c.114-5302G>T c.197G>T c.885G>T c.225+2736G>T c.703G>T (p.Asp235Tyr) c.-114G>T (n.-114G>T) c.-36-5302G>T (n.-36-5302G>T) c.811G>T (p.Asp271Tyr) | ClinVar dbSNP |
| 3 | g.37020335_37020336delinsGA | CA1357877177 | MLH1 | c.910_911delinsGA (p.Asp304=) c.616_617delinsGA (p.Asp206=) c.884+2736_884+2737delinsGA (n.884+2736_884+2737delinsGA) c.187_188delinsGA (p.Asp63=) c.68-5302_68-5301delinsGA (n.68-5302_68-5301delinsGA) c.*871-5302_*871-5301delinsGA (n.*871-5302_*871-5301delinsGA) n.718_719delinsGA c.*21_*22delinsGA (n.*21_*22delinsGA) c.863_864delinsGA n.941_942delinsGA n.292_293delinsGA c.*702_*703delinsGA (n.*702_*703delinsGA) c.677+8236_677+8237delinsGA (n.677+8236_677+8237delinsGA) c.*1050_*1051delinsGA (n.*1050_*1051delinsGA) c.*788_*789delinsGA (n.*788_*789delinsGA) n.801_802delinsGA n.758_759delinsGA c.114-5302_114-5301delinsGA c.197_198delinsGA c.885_886delinsGA c.225+2736_225+2737delinsGA c.703_704delinsGA (p.Asp235=) c.-114_-113delinsGA (n.-114_-113delinsGA) c.-36-5302_-36-5301delinsGA (n.-36-5302_-36-5301delinsGA) c.811_812delinsGA (p.Asp271=) | |
| 3 | g.37020335_37020347delinsGATGTTAATGTGC | CA1357877181 | MLH1 | c.910_922delinsGATGTTAATGTGC (p.Asp304=) c.616_628delinsGATGTTAATGTGC (p.Asp206=) c.884+2736_884+2748delinsGATGTTAATGTGC (n.884+2736_884+2748delinsGATGTTAATGTGC) c.187_199delinsGATGTTAATGTGC (p.Asp63=) c.68-5302_68-5290delinsGATGTTAATGTGC (n.68-5302_68-5290delinsGATGTTAATGTGC) c.*871-5302_*871-5290delinsGATGTTAATGTGC (n.*871-5302_*871-5290delinsGATGTTAATGTGC) n.718_730delinsGATGTTAATGTGC c.*21_*33delinsGATGTTAATGTGC (n.*21_*33delinsGATGTTAATGTGC) c.863_875delinsGATGTTAATGTGC n.941_953delinsGATGTTAATGTGC n.292_304delinsGATGTTAATGTGC c.*702_*714delinsGATGTTAATGTGC (n.*702_*714delinsGATGTTAATGTGC) c.677+8236_677+8248delinsGATGTTAATGTGC (n.677+8236_677+8248delinsGATGTTAATGTGC) c.*1050_*1062delinsGATGTTAATGTGC (n.*1050_*1062delinsGATGTTAATGTGC) c.*788_*800delinsGATGTTAATGTGC (n.*788_*800delinsGATGTTAATGTGC) n.801_813delinsGATGTTAATGTGC n.758_770delinsGATGTTAATGTGC c.114-5302_114-5290delinsGATGTTAATGTGC c.197_209delinsGATGTTAATGTGC c.885_897delinsGATGTTAATGTGC c.225+2736_225+2748delinsGATGTTAATGTGC c.703_715delinsGATGTTAATGTGC (p.Asp235=) c.-114_-102delinsGATGTTAATGTGC (n.-114_-102delinsGATGTTAATGTGC) c.-36-5302_-36-5290delinsGATGTTAATGTGC (n.-36-5302_-36-5290delinsGATGTTAATGTGC) c.811_823delinsGATGTTAATGTGC (p.Asp271=) | |
| 3 | g.37020335_37020359delinsGATGTTAATGTGCACCCCACAAAGC | CA1357877183 | MLH1 | c.910_934delinsGATGTTAATGTGCACCCCACAAAGC (p.Asp304=) c.616_640delinsGATGTTAATGTGCACCCCACAAAGC (p.Asp206=) c.884+2736_884+2760delinsGATGTTAATGTGCACCCCACAAAGC (n.884+2736_884+2760delinsGATGTTAATGTGCACCCCACAAAGC) c.187_211delinsGATGTTAATGTGCACCCCACAAAGC (p.Asp63=) c.68-5302_68-5278delinsGATGTTAATGTGCACCCCACAAAGC (n.68-5302_68-5278delinsGATGTTAATGTGCACCCCACAAAGC) c.*871-5302_*871-5278delinsGATGTTAATGTGCACCCCACAAAGC (n.*871-5302_*871-5278delinsGATGTTAATGTGCACCCCACAAAGC) n.718_742delinsGATGTTAATGTGCACCCCACAAAGC c.*21_*45delinsGATGTTAATGTGCACCCCACAAAGC (n.*21_*45delinsGATGTTAATGTGCACCCCACAAAGC) c.863_887delinsGATGTTAATGTGCACCCCACAAAGC n.941_965delinsGATGTTAATGTGCACCCCACAAAGC n.292_316delinsGATGTTAATGTGCACCCCACAAAGC c.*702_*726delinsGATGTTAATGTGCACCCCACAAAGC (n.*702_*726delinsGATGTTAATGTGCACCCCACAAAGC) c.677+8236_677+8260delinsGATGTTAATGTGCACCCCACAAAGC (n.677+8236_677+8260delinsGATGTTAATGTGCACCCCACAAAGC) c.*1050_*1074delinsGATGTTAATGTGCACCCCACAAAGC (n.*1050_*1074delinsGATGTTAATGTGCACCCCACAAAGC) c.*788_*812delinsGATGTTAATGTGCACCCCACAAAGC (n.*788_*812delinsGATGTTAATGTGCACCCCACAAAGC) n.801_825delinsGATGTTAATGTGCACCCCACAAAGC n.758_782delinsGATGTTAATGTGCACCCCACAAAGC c.114-5302_114-5278delinsGATGTTAATGTGCACCCCACAAAGC c.197_221delinsGATGTTAATGTGCACCCCACAAAGC c.885_909delinsGATGTTAATGTGCACCCCACAAAGC c.225+2736_225+2760delinsGATGTTAATGTGCACCCCACAAAGC c.703_727delinsGATGTTAATGTGCACCCCACAAAGC (p.Asp235=) c.-114_-90delinsGATGTTAATGTGCACCCCACAAAGC (n.-114_-90delinsGATGTTAATGTGCACCCCACAAAGC) c.-36-5302_-36-5278delinsGATGTTAATGTGCACCCCACAAAGC (n.-36-5302_-36-5278delinsGATGTTAATGTGCACCCCACAAAGC) c.811_835delinsGATGTTAATGTGCACCCCACAAAGC (p.Asp271=) | |
| 3 | g.37020336del | CA658655814 | MLH1 | c.911del (p.Asp304ValfsTer?) c.617del (p.Asp206ValfsTer?) c.884+2737del (n.884+2737del) c.188del (p.Asp63ValfsTer?) c.68-5301del (n.68-5301del) c.*871-5301del (n.*871-5301del) n.719del c.*22del (n.*22del) c.864del n.942del n.293del c.*703del (n.*703del) c.677+8237del (n.677+8237del) c.*1051del (n.*1051del) c.*789del (n.*789del) n.802del n.759del c.114-5301del c.198del c.886del c.225+2737del c.704del (p.Asp235ValfsTer?) c.-113del (n.-113del) c.-36-5301del (n.-36-5301del) c.812del (p.Asp271ValfsTer?) | ClinVar dbSNP |
| 3 | g.37020336A= | CA1357877201 | MLH1 | c.911A= (p.Asp304=) c.617A= (p.Asp206=) c.884+2737A= (n.884+2737A=) c.188A= (p.Asp63=) c.68-5301A= (n.68-5301A=) c.*871-5301A= (n.*871-5301A=) n.719A= c.*22A= (n.*22A=) c.864A= n.942A= n.293A= c.*703A= (n.*703A=) c.677+8237A= (n.677+8237A=) c.*1051A= (n.*1051A=) c.*789A= (n.*789A=) n.802A= n.759A= c.114-5301A= c.198A= c.886A= c.225+2737A= c.704A= (p.Asp235=) c.-113A= (n.-113A=) c.-36-5301A= (n.-36-5301A=) c.812A= (p.Asp271=) | |
| 3 | g.37020336A>C | CA352048520 | MLH1 | c.911A>C (p.Asp304Ala) c.617A>C (p.Asp206Ala) c.884+2737A>C (n.884+2737A>C) c.188A>C (p.Asp63Ala) c.68-5301A>C (n.68-5301A>C) c.*871-5301A>C (n.*871-5301A>C) n.719A>C c.*22A>C (n.*22A>C) c.864A>C n.942A>C n.293A>C c.*703A>C (n.*703A>C) c.677+8237A>C (n.677+8237A>C) c.*1051A>C (n.*1051A>C) c.*789A>C (n.*789A>C) n.802A>C n.759A>C c.114-5301A>C c.198A>C c.886A>C c.225+2737A>C c.704A>C (p.Asp235Ala) c.-113A>C (n.-113A>C) c.-36-5301A>C (n.-36-5301A>C) c.812A>C (p.Asp271Ala) | ClinVar dbSNP |
| 3 | g.37020336A>G | CA013037 | MLH1 | c.911A>G (p.Asp304Gly) c.617A>G (p.Asp206Gly) c.884+2737A>G (n.884+2737A>G) c.188A>G (p.Asp63Gly) c.68-5301A>G (n.68-5301A>G) c.*871-5301A>G (n.*871-5301A>G) n.719A>G c.*22A>G (n.*22A>G) c.864A>G n.942A>G n.293A>G c.*703A>G (n.*703A>G) c.677+8237A>G (n.677+8237A>G) c.*1051A>G (n.*1051A>G) c.*789A>G (n.*789A>G) n.802A>G n.759A>G c.114-5301A>G c.198A>G c.886A>G c.225+2737A>G c.704A>G (p.Asp235Gly) c.-113A>G (n.-113A>G) c.-36-5301A>G (n.-36-5301A>G) c.812A>G (p.Asp271Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.37020336A>T | CA013044 | MLH1 | c.911A>T (p.Asp304Val) c.617A>T (p.Asp206Val) c.884+2737A>T (n.884+2737A>T) c.188A>T (p.Asp63Val) c.68-5301A>T (n.68-5301A>T) c.*871-5301A>T (n.*871-5301A>T) n.719A>T c.*22A>T (n.*22A>T) c.864A>T n.942A>T n.293A>T c.*703A>T (n.*703A>T) c.677+8237A>T (n.677+8237A>T) c.*1051A>T (n.*1051A>T) c.*789A>T (n.*789A>T) n.802A>T n.759A>T c.114-5301A>T c.198A>T c.886A>T c.225+2737A>T c.704A>T (p.Asp235Val) c.-113A>T (n.-113A>T) c.-36-5301A>T (n.-36-5301A>T) c.812A>T (p.Asp271Val) | ClinVar dbSNP |
| 3 | g.37020337_37020348del | CA16611246 | MLH1 | c.912_923del (p.Val305_His308del) c.618_629del (p.Val207_His210del) c.884+2738_884+2749del (n.884+2738_884+2749del) c.189_200del (p.Val64_His67del) c.68-5300_68-5289del (n.68-5300_68-5289del) c.*871-5300_*871-5289del (n.*871-5300_*871-5289del) n.720_731del c.*23_*34del (n.*23_*34del) c.865_876del n.943_954del n.294_305del c.*704_*715del (n.*704_*715del) c.677+8238_677+8249del (n.677+8238_677+8249del) c.*1052_*1063del (n.*1052_*1063del) c.*790_*801del (n.*790_*801del) n.803_814del n.760_771del c.114-5300_114-5289del c.199_210del c.887_898del c.225+2738_225+2749del c.705_716del (p.Val236_His239del) c.-112_-101del (n.-112_-101del) c.-36-5300_-36-5289del (n.-36-5300_-36-5289del) c.813_824del (p.Val272_His275del) | ClinVar dbSNP |
| 3 | g.37020339_37020362del | CA013051 | MLH1 | c.914_937del (p.Val305_His312del) c.620_643del (p.Val207_His214del) c.884+2740_884+2763del (n.884+2740_884+2763del) c.191_214del (p.Val64_His71del) c.68-5298_68-5275del (n.68-5298_68-5275del) c.*871-5298_*871-5275del (n.*871-5298_*871-5275del) n.722_745del c.*25_*48del (n.*25_*48del) c.867_890del n.945_968del n.296_319del c.*706_*729del (n.*706_*729del) c.677+8240_677+8263del (n.677+8240_677+8263del) c.*1054_*1077del (n.*1054_*1077del) c.*792_*815del (n.*792_*815del) n.805_828del n.762_785del c.114-5298_114-5275del c.201_224del c.889_912del c.225+2740_225+2763del c.707_730del (p.Val236_His243del) c.-110_-87del (n.-110_-87del) c.-36-5298_-36-5275del (n.-36-5298_-36-5275del) c.815_838del (p.Val272_His279del) | dbSNP |
| 3 | g.37020337T>A | CA352048525 | MLH1 | c.912T>A (p.Asp304Glu) c.618T>A (p.Asp206Glu) c.884+2738T>A (n.884+2738T>A) c.189T>A (p.Asp63Glu) c.68-5300T>A (n.68-5300T>A) c.*871-5300T>A (n.*871-5300T>A) n.720T>A c.*23T>A (n.*23T>A) c.865T>A n.943T>A n.294T>A c.*704T>A (n.*704T>A) c.677+8238T>A (n.677+8238T>A) c.*1052T>A (n.*1052T>A) c.*790T>A (n.*790T>A) n.803T>A n.760T>A c.114-5300T>A c.199T>A c.887T>A c.225+2738T>A c.705T>A (p.Asp235Glu) c.-112T>A (n.-112T>A) c.-36-5300T>A (n.-36-5300T>A) c.813T>A (p.Asp271Glu) | dbSNP |