UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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.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.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 |
| 3 | g.37020337T>C | CA433077336 | MLH1 | c.912T>C (p.Asp304=) c.618T>C (p.Asp206=) c.884+2738T>C (n.884+2738T>C) c.189T>C (p.Asp63=) c.68-5300T>C (n.68-5300T>C) c.*871-5300T>C (n.*871-5300T>C) n.720T>C c.*23T>C (n.*23T>C) c.865T>C n.943T>C n.294T>C c.*704T>C (n.*704T>C) c.677+8238T>C (n.677+8238T>C) c.*1052T>C (n.*1052T>C) c.*790T>C (n.*790T>C) n.803T>C n.760T>C c.114-5300T>C c.199T>C c.887T>C c.225+2738T>C c.705T>C (p.Asp235=) c.-112T>C (n.-112T>C) c.-36-5300T>C (n.-36-5300T>C) c.813T>C (p.Asp271=) | |
| 3 | g.37020337T>G | CA352048527 | MLH1 | c.912T>G (p.Asp304Glu) c.618T>G (p.Asp206Glu) c.884+2738T>G (n.884+2738T>G) c.189T>G (p.Asp63Glu) c.68-5300T>G (n.68-5300T>G) c.*871-5300T>G (n.*871-5300T>G) n.720T>G c.*23T>G (n.*23T>G) c.865T>G n.943T>G n.294T>G c.*704T>G (n.*704T>G) c.677+8238T>G (n.677+8238T>G) c.*1052T>G (n.*1052T>G) c.*790T>G (n.*790T>G) n.803T>G n.760T>G c.114-5300T>G c.199T>G c.887T>G c.225+2738T>G c.705T>G (p.Asp235Glu) c.-112T>G (n.-112T>G) c.-36-5300T>G (n.-36-5300T>G) c.813T>G (p.Asp271Glu) | |
| 3 | g.37020337dup | CA2580614190 | MLH1 | c.912dup (p.Val305CysfsTer2) c.618dup (p.Val207CysfsTer2) c.884+2738dup (n.884+2738dup) c.189dup (p.Val64CysfsTer2) c.68-5300dup (n.68-5300dup) c.*871-5300dup (n.*871-5300dup) n.720dup c.*23dup (n.*23dup) c.865dup n.943dup n.294dup c.*704dup (n.*704dup) c.677+8238dup (n.677+8238dup) c.*1052dup (n.*1052dup) c.*790dup (n.*790dup) n.803dup n.760dup c.114-5300dup c.199dup c.887dup c.225+2738dup c.705dup (p.Val236CysfsTer2) c.-112dup (n.-112dup) c.-36-5300dup (n.-36-5300dup) c.813dup (p.Val272CysfsTer2) | ClinVar |
| 3 | g.37020338G>A | CA352048538 | MLH1 | c.913G>A (p.Val305Ile) c.619G>A (p.Val207Ile) c.884+2739G>A (n.884+2739G>A) c.190G>A (p.Val64Ile) c.68-5299G>A (n.68-5299G>A) c.*871-5299G>A (n.*871-5299G>A) n.721G>A c.*24G>A (n.*24G>A) c.866G>A n.944G>A n.295G>A c.*705G>A (n.*705G>A) c.677+8239G>A (n.677+8239G>A) c.*1053G>A (n.*1053G>A) c.*791G>A (n.*791G>A) n.804G>A n.761G>A c.114-5299G>A c.200G>A c.888G>A c.225+2739G>A c.706G>A (p.Val236Ile) c.-111G>A (n.-111G>A) c.-36-5299G>A (n.-36-5299G>A) c.814G>A (p.Val272Ile) | dbSNP |
| 3 | g.37020338G>C | CA352048541 | MLH1 | c.913G>C (p.Val305Leu) c.619G>C (p.Val207Leu) c.884+2739G>C (n.884+2739G>C) c.190G>C (p.Val64Leu) c.68-5299G>C (n.68-5299G>C) c.*871-5299G>C (n.*871-5299G>C) n.721G>C c.*24G>C (n.*24G>C) c.866G>C n.944G>C n.295G>C c.*705G>C (n.*705G>C) c.677+8239G>C (n.677+8239G>C) c.*1053G>C (n.*1053G>C) c.*791G>C (n.*791G>C) n.804G>C n.761G>C c.114-5299G>C c.200G>C c.888G>C c.225+2739G>C c.706G>C (p.Val236Leu) c.-111G>C (n.-111G>C) c.-36-5299G>C (n.-36-5299G>C) c.814G>C (p.Val272Leu) | dbSNP |
| 3 | g.37020338G= | CA1357877210 | MLH1 | c.913G= (p.Val305=) c.619G= (p.Val207=) c.884+2739G= (n.884+2739G=) c.190G= (p.Val64=) c.68-5299G= (n.68-5299G=) c.*871-5299G= (n.*871-5299G=) n.721G= c.*24G= (n.*24G=) c.866G= n.944G= n.295G= c.*705G= (n.*705G=) c.677+8239G= (n.677+8239G=) c.*1053G= (n.*1053G=) c.*791G= (n.*791G=) n.804G= n.761G= c.114-5299G= c.200G= c.888G= c.225+2739G= c.706G= (p.Val236=) c.-111G= (n.-111G=) c.-36-5299G= (n.-36-5299G=) c.814G= (p.Val272=) | |
| 3 | g.37020338G>T | CA352048545 | MLH1 | c.913G>T (p.Val305Phe) c.619G>T (p.Val207Phe) c.884+2739G>T (n.884+2739G>T) c.190G>T (p.Val64Phe) c.68-5299G>T (n.68-5299G>T) c.*871-5299G>T (n.*871-5299G>T) n.721G>T c.*24G>T (n.*24G>T) c.866G>T n.944G>T n.295G>T c.*705G>T (n.*705G>T) c.677+8239G>T (n.677+8239G>T) c.*1053G>T (n.*1053G>T) c.*791G>T (n.*791G>T) n.804G>T n.761G>T c.114-5299G>T c.200G>T c.888G>T c.225+2739G>T c.706G>T (p.Val236Phe) c.-111G>T (n.-111G>T) c.-36-5299G>T (n.-36-5299G>T) c.814G>T (p.Val272Phe) | ClinVar |
| 3 | g.37020339T>A | CA352048546 | MLH1 | c.914T>A (p.Val305Asp) c.620T>A (p.Val207Asp) c.884+2740T>A (n.884+2740T>A) c.191T>A (p.Val64Asp) c.68-5298T>A (n.68-5298T>A) c.*871-5298T>A (n.*871-5298T>A) n.722T>A c.*25T>A (n.*25T>A) c.867T>A n.945T>A n.296T>A c.*706T>A (n.*706T>A) c.677+8240T>A (n.677+8240T>A) c.*1054T>A (n.*1054T>A) c.*792T>A (n.*792T>A) n.805T>A n.762T>A c.114-5298T>A c.201T>A c.889T>A c.225+2740T>A c.707T>A (p.Val236Asp) c.-110T>A (n.-110T>A) c.-36-5298T>A (n.-36-5298T>A) c.815T>A (p.Val272Asp) | dbSNP |
| 3 | g.37020339T>C | CA352048550 | MLH1 | c.914T>C (p.Val305Ala) c.620T>C (p.Val207Ala) c.884+2740T>C (n.884+2740T>C) c.191T>C (p.Val64Ala) c.68-5298T>C (n.68-5298T>C) c.*871-5298T>C (n.*871-5298T>C) n.722T>C c.*25T>C (n.*25T>C) c.867T>C n.945T>C n.296T>C c.*706T>C (n.*706T>C) c.677+8240T>C (n.677+8240T>C) c.*1054T>C (n.*1054T>C) c.*792T>C (n.*792T>C) n.805T>C n.762T>C c.114-5298T>C c.201T>C c.889T>C c.225+2740T>C c.707T>C (p.Val236Ala) c.-110T>C (n.-110T>C) c.-36-5298T>C (n.-36-5298T>C) c.815T>C (p.Val272Ala) | |
| 3 | g.37020339T>G | CA352048547 | MLH1 | c.914T>G (p.Val305Gly) c.620T>G (p.Val207Gly) c.884+2740T>G (n.884+2740T>G) c.191T>G (p.Val64Gly) c.68-5298T>G (n.68-5298T>G) c.*871-5298T>G (n.*871-5298T>G) n.722T>G c.*25T>G (n.*25T>G) c.867T>G n.945T>G n.296T>G c.*706T>G (n.*706T>G) c.677+8240T>G (n.677+8240T>G) c.*1054T>G (n.*1054T>G) c.*792T>G (n.*792T>G) n.805T>G n.762T>G c.114-5298T>G c.201T>G c.889T>G c.225+2740T>G c.707T>G (p.Val236Gly) c.-110T>G (n.-110T>G) c.-36-5298T>G (n.-36-5298T>G) c.815T>G (p.Val272Gly) | dbSNP |
| 3 | g.37020340T>A | CA433077343 | MLH1 | c.915T>A (p.Val305=) c.621T>A (p.Val207=) c.884+2741T>A (n.884+2741T>A) c.192T>A (p.Val64=) c.68-5297T>A (n.68-5297T>A) c.*871-5297T>A (n.*871-5297T>A) n.723T>A c.*26T>A (n.*26T>A) c.868T>A n.946T>A n.297T>A c.*707T>A (n.*707T>A) c.677+8241T>A (n.677+8241T>A) c.*1055T>A (n.*1055T>A) c.*793T>A (n.*793T>A) n.806T>A n.763T>A c.114-5297T>A c.202T>A c.890T>A c.225+2741T>A c.708T>A (p.Val236=) c.-109T>A (n.-109T>A) c.-36-5297T>A (n.-36-5297T>A) c.816T>A (p.Val272=) | dbSNP |
| 3 | g.37020340T>C | CA433077345 | MLH1 | c.915T>C (p.Val305=) c.621T>C (p.Val207=) c.884+2741T>C (n.884+2741T>C) c.192T>C (p.Val64=) c.68-5297T>C (n.68-5297T>C) c.*871-5297T>C (n.*871-5297T>C) n.723T>C c.*26T>C (n.*26T>C) c.868T>C n.946T>C n.297T>C c.*707T>C (n.*707T>C) c.677+8241T>C (n.677+8241T>C) c.*1055T>C (n.*1055T>C) c.*793T>C (n.*793T>C) n.806T>C n.763T>C c.114-5297T>C c.202T>C c.890T>C c.225+2741T>C c.708T>C (p.Val236=) c.-109T>C (n.-109T>C) c.-36-5297T>C (n.-36-5297T>C) c.816T>C (p.Val272=) | ClinVar dbSNP |
| 3 | g.37020340T>G | CA433077346 | MLH1 | c.915T>G (p.Val305=) c.621T>G (p.Val207=) c.884+2741T>G (n.884+2741T>G) c.192T>G (p.Val64=) c.68-5297T>G (n.68-5297T>G) c.*871-5297T>G (n.*871-5297T>G) n.723T>G c.*26T>G (n.*26T>G) c.868T>G n.946T>G n.297T>G c.*707T>G (n.*707T>G) c.677+8241T>G (n.677+8241T>G) c.*1055T>G (n.*1055T>G) c.*793T>G (n.*793T>G) n.806T>G n.763T>G c.114-5297T>G c.202T>G c.890T>G c.225+2741T>G c.708T>G (p.Val236=) c.-109T>G (n.-109T>G) c.-36-5297T>G (n.-36-5297T>G) c.816T>G (p.Val272=) | |
| 3 | g.37020340T= | CA1357877212 | MLH1 | c.915T= (p.Val305=) c.621T= (p.Val207=) c.884+2741T= (n.884+2741T=) c.192T= (p.Val64=) c.68-5297T= (n.68-5297T=) c.*871-5297T= (n.*871-5297T=) n.723T= c.*26T= (n.*26T=) c.868T= n.946T= n.297T= c.*707T= (n.*707T=) c.677+8241T= (n.677+8241T=) c.*1055T= (n.*1055T=) c.*793T= (n.*793T=) n.806T= n.763T= c.114-5297T= c.202T= c.890T= c.225+2741T= c.708T= (p.Val236=) c.-109T= (n.-109T=) c.-36-5297T= (n.-36-5297T=) c.816T= (p.Val272=) | |
| 3 | g.37020341A= | CA1357877214 | MLH1 | c.916A= (p.Asn306=) c.622A= (p.Asn208=) c.884+2742A= (n.884+2742A=) c.193A= (p.Asn65=) c.68-5296A= (n.68-5296A=) c.*871-5296A= (n.*871-5296A=) n.724A= c.*27A= (n.*27A=) c.869A= n.947A= n.298A= c.*708A= (n.*708A=) c.677+8242A= (n.677+8242A=) c.*1056A= (n.*1056A=) c.*794A= (n.*794A=) n.807A= n.764A= c.114-5296A= c.203A= c.891A= c.225+2742A= c.709A= (p.Asn237=) c.-108A= (n.-108A=) c.-36-5296A= (n.-36-5296A=) c.817A= (p.Asn273=) | |
| 3 | g.37020341A>C | CA352048553 | MLH1 | c.916A>C (p.Asn306His) c.622A>C (p.Asn208His) c.884+2742A>C (n.884+2742A>C) c.193A>C (p.Asn65His) c.68-5296A>C (n.68-5296A>C) c.*871-5296A>C (n.*871-5296A>C) n.724A>C c.*27A>C (n.*27A>C) c.869A>C n.947A>C n.298A>C c.*708A>C (n.*708A>C) c.677+8242A>C (n.677+8242A>C) c.*1056A>C (n.*1056A>C) c.*794A>C (n.*794A>C) n.807A>C n.764A>C c.114-5296A>C c.203A>C c.891A>C c.225+2742A>C c.709A>C (p.Asn237His) c.-108A>C (n.-108A>C) c.-36-5296A>C (n.-36-5296A>C) c.817A>C (p.Asn273His) | |
| 3 | g.37020341A>G | CA352048558 | MLH1 | c.916A>G (p.Asn306Asp) c.622A>G (p.Asn208Asp) c.884+2742A>G (n.884+2742A>G) c.193A>G (p.Asn65Asp) c.68-5296A>G (n.68-5296A>G) c.*871-5296A>G (n.*871-5296A>G) n.724A>G c.*27A>G (n.*27A>G) c.869A>G n.947A>G n.298A>G c.*708A>G (n.*708A>G) c.677+8242A>G (n.677+8242A>G) c.*1056A>G (n.*1056A>G) c.*794A>G (n.*794A>G) n.807A>G n.764A>G c.114-5296A>G c.203A>G c.891A>G c.225+2742A>G c.709A>G (p.Asn237Asp) c.-108A>G (n.-108A>G) c.-36-5296A>G (n.-36-5296A>G) c.817A>G (p.Asn273Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.37020341A>T | CA352048561 | MLH1 | c.916A>T (p.Asn306Tyr) c.622A>T (p.Asn208Tyr) c.884+2742A>T (n.884+2742A>T) c.193A>T (p.Asn65Tyr) c.68-5296A>T (n.68-5296A>T) c.*871-5296A>T (n.*871-5296A>T) n.724A>T c.*27A>T (n.*27A>T) c.869A>T n.947A>T n.298A>T c.*708A>T (n.*708A>T) c.677+8242A>T (n.677+8242A>T) c.*1056A>T (n.*1056A>T) c.*794A>T (n.*794A>T) n.807A>T n.764A>T c.114-5296A>T c.203A>T c.891A>T c.225+2742A>T c.709A>T (p.Asn237Tyr) c.-108A>T (n.-108A>T) c.-36-5296A>T (n.-36-5296A>T) c.817A>T (p.Asn273Tyr) | dbSNP |
| 3 | g.37020342A= | CA1357877226 | MLH1 | c.917A= (p.Asn306=) c.623A= (p.Asn208=) c.884+2743A= (n.884+2743A=) c.194A= (p.Asn65=) c.68-5295A= (n.68-5295A=) c.*871-5295A= (n.*871-5295A=) n.725A= c.*28A= (n.*28A=) c.870A= n.948A= n.299A= c.*709A= (n.*709A=) c.677+8243A= (n.677+8243A=) c.*1057A= (n.*1057A=) c.*795A= (n.*795A=) n.808A= n.765A= c.114-5295A= c.204A= c.892A= c.225+2743A= c.710A= (p.Asn237=) c.-107A= (n.-107A=) c.-36-5295A= (n.-36-5295A=) c.818A= (p.Asn273=) | |
| 3 | g.37020342A>C | CA352048567 | MLH1 | c.917A>C (p.Asn306Thr) c.623A>C (p.Asn208Thr) c.884+2743A>C (n.884+2743A>C) c.194A>C (p.Asn65Thr) c.68-5295A>C (n.68-5295A>C) c.*871-5295A>C (n.*871-5295A>C) n.725A>C c.*28A>C (n.*28A>C) c.870A>C n.948A>C n.299A>C c.*709A>C (n.*709A>C) c.677+8243A>C (n.677+8243A>C) c.*1057A>C (n.*1057A>C) c.*795A>C (n.*795A>C) n.808A>C n.765A>C c.114-5295A>C c.204A>C c.892A>C c.225+2743A>C c.710A>C (p.Asn237Thr) c.-107A>C (n.-107A>C) c.-36-5295A>C (n.-36-5295A>C) c.818A>C (p.Asn273Thr) | |
| 3 | g.37020342A>G | CA038998 | MLH1 | c.917A>G (p.Asn306Ser) c.623A>G (p.Asn208Ser) c.884+2743A>G (n.884+2743A>G) c.194A>G (p.Asn65Ser) c.68-5295A>G (n.68-5295A>G) c.*871-5295A>G (n.*871-5295A>G) n.725A>G c.*28A>G (n.*28A>G) c.870A>G n.948A>G n.299A>G c.*709A>G (n.*709A>G) c.677+8243A>G (n.677+8243A>G) c.*1057A>G (n.*1057A>G) c.*795A>G (n.*795A>G) n.808A>G n.765A>G c.114-5295A>G c.204A>G c.892A>G c.225+2743A>G c.710A>G (p.Asn237Ser) c.-107A>G (n.-107A>G) c.-36-5295A>G (n.-36-5295A>G) c.818A>G (p.Asn273Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.37020342A>T | CA10578233 | MLH1 | c.917A>T (p.Asn306Ile) c.623A>T (p.Asn208Ile) c.884+2743A>T (n.884+2743A>T) c.194A>T (p.Asn65Ile) c.68-5295A>T (n.68-5295A>T) c.*871-5295A>T (n.*871-5295A>T) n.725A>T c.*28A>T (n.*28A>T) c.870A>T n.948A>T n.299A>T c.*709A>T (n.*709A>T) c.677+8243A>T (n.677+8243A>T) c.*1057A>T (n.*1057A>T) c.*795A>T (n.*795A>T) n.808A>T n.765A>T c.114-5295A>T c.204A>T c.892A>T c.225+2743A>T c.710A>T (p.Asn237Ile) c.-107A>T (n.-107A>T) c.-36-5295A>T (n.-36-5295A>T) c.818A>T (p.Asn273Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.37020342_37020343del | CA2580069688 | MLH1 | c.917_918del (p.Asn306SerfsTer7) c.623_624del (p.Asn208SerfsTer7) c.884+2743_884+2744del (n.884+2743_884+2744del) c.194_195del (p.Asn65SerfsTer7) c.68-5295_68-5294del (n.68-5295_68-5294del) c.*871-5295_*871-5294del (n.*871-5295_*871-5294del) n.725_726del c.*28_*29del (n.*28_*29del) c.870_871del n.948_949del n.299_300del c.*709_*710del (n.*709_*710del) c.677+8243_677+8244del (n.677+8243_677+8244del) c.*1057_*1058del (n.*1057_*1058del) c.*795_*796del (n.*795_*796del) n.808_809del n.765_766del c.114-5295_114-5294del c.204_205del c.892_893del c.225+2743_225+2744del c.710_711del (p.Asn237SerfsTer7) c.-107_-106del (n.-107_-106del) c.-36-5295_-36-5294del (n.-36-5295_-36-5294del) c.818_819del (p.Asn273SerfsTer7) | ClinVar |