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.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.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.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 |
| 3 | g.37020342_37020343delinsAT | CA1357877223 | MLH1 | c.917_918delinsAT (p.Asn306=) c.623_624delinsAT (p.Asn208=) c.884+2743_884+2744delinsAT (n.884+2743_884+2744delinsAT) c.194_195delinsAT (p.Asn65=) c.68-5295_68-5294delinsAT (n.68-5295_68-5294delinsAT) c.*871-5295_*871-5294delinsAT (n.*871-5295_*871-5294delinsAT) n.725_726delinsAT c.*28_*29delinsAT (n.*28_*29delinsAT) c.870_871delinsAT n.948_949delinsAT n.299_300delinsAT c.*709_*710delinsAT (n.*709_*710delinsAT) c.677+8243_677+8244delinsAT (n.677+8243_677+8244delinsAT) c.*1057_*1058delinsAT (n.*1057_*1058delinsAT) c.*795_*796delinsAT (n.*795_*796delinsAT) n.808_809delinsAT n.765_766delinsAT c.114-5295_114-5294delinsAT c.204_205delinsAT c.892_893delinsAT c.225+2743_225+2744delinsAT c.710_711delinsAT (p.Asn237=) c.-107_-106delinsAT (n.-107_-106delinsAT) c.-36-5295_-36-5294delinsAT (n.-36-5295_-36-5294delinsAT) c.818_819delinsAT (p.Asn273=) | |
| 3 | g.37020343del | CA10578234 | MLH1 | c.918del (p.Asn306LysfsTer?) c.624del (p.Asn208LysfsTer?) c.884+2744del (n.884+2744del) c.195del (p.Asn65LysfsTer?) c.68-5294del (n.68-5294del) c.*871-5294del (n.*871-5294del) n.726del c.*29del (n.*29del) c.871del n.949del n.300del c.*710del (n.*710del) c.677+8244del (n.677+8244del) c.*1058del (n.*1058del) c.*796del (n.*796del) n.809del n.766del c.114-5294del c.205del c.893del c.225+2744del c.711del (p.Asn237LysfsTer?) c.-106del (n.-106del) c.-36-5294del (n.-36-5294del) c.819del (p.Asn273LysfsTer?) | ClinVar dbSNP |
| 3 | g.37020343T>A | CA013067 | MLH1 | c.918T>A (p.Asn306Lys) c.624T>A (p.Asn208Lys) c.884+2744T>A (n.884+2744T>A) c.195T>A (p.Asn65Lys) c.68-5294T>A (n.68-5294T>A) c.*871-5294T>A (n.*871-5294T>A) n.726T>A c.*29T>A (n.*29T>A) c.871T>A n.949T>A n.300T>A c.*710T>A (n.*710T>A) c.677+8244T>A (n.677+8244T>A) c.*1058T>A (n.*1058T>A) c.*796T>A (n.*796T>A) n.809T>A n.766T>A c.114-5294T>A c.205T>A c.893T>A c.225+2744T>A c.711T>A (p.Asn237Lys) c.-106T>A (n.-106T>A) c.-36-5294T>A (n.-36-5294T>A) c.819T>A (p.Asn273Lys) | ClinVar dbSNP |
| 3 | g.37020343T>C | CA16604537 | MLH1 | c.918T>C (p.Asn306=) c.624T>C (p.Asn208=) c.884+2744T>C (n.884+2744T>C) c.195T>C (p.Asn65=) c.68-5294T>C (n.68-5294T>C) c.*871-5294T>C (n.*871-5294T>C) n.726T>C c.*29T>C (n.*29T>C) c.871T>C n.949T>C n.300T>C c.*710T>C (n.*710T>C) c.677+8244T>C (n.677+8244T>C) c.*1058T>C (n.*1058T>C) c.*796T>C (n.*796T>C) n.809T>C n.766T>C c.114-5294T>C c.205T>C c.893T>C c.225+2744T>C c.711T>C (p.Asn237=) c.-106T>C (n.-106T>C) c.-36-5294T>C (n.-36-5294T>C) c.819T>C (p.Asn273=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.37020343T>G | CA352048593 | MLH1 | c.918T>G (p.Asn306Lys) c.624T>G (p.Asn208Lys) c.884+2744T>G (n.884+2744T>G) c.195T>G (p.Asn65Lys) c.68-5294T>G (n.68-5294T>G) c.*871-5294T>G (n.*871-5294T>G) n.726T>G c.*29T>G (n.*29T>G) c.871T>G n.949T>G n.300T>G c.*710T>G (n.*710T>G) c.677+8244T>G (n.677+8244T>G) c.*1058T>G (n.*1058T>G) c.*796T>G (n.*796T>G) n.809T>G n.766T>G c.114-5294T>G c.205T>G c.893T>G c.225+2744T>G c.711T>G (p.Asn237Lys) c.-106T>G (n.-106T>G) c.-36-5294T>G (n.-36-5294T>G) c.819T>G (p.Asn273Lys) | |
| 3 | g.37020343T= | CA1357877239 | MLH1 | c.918T= (p.Asn306=) c.624T= (p.Asn208=) c.884+2744T= (n.884+2744T=) c.195T= (p.Asn65=) c.68-5294T= (n.68-5294T=) c.*871-5294T= (n.*871-5294T=) n.726T= c.*29T= (n.*29T=) c.871T= n.949T= n.300T= c.*710T= (n.*710T=) c.677+8244T= (n.677+8244T=) c.*1058T= (n.*1058T=) c.*796T= (n.*796T=) n.809T= n.766T= c.114-5294T= c.205T= c.893T= c.225+2744T= c.711T= (p.Asn237=) c.-106T= (n.-106T=) c.-36-5294T= (n.-36-5294T=) c.819T= (p.Asn273=) | |
| 3 | g.37020344G>A | CA013094 | MLH1 | c.919G>A (p.Val307Met) c.625G>A (p.Val209Met) c.884+2745G>A (n.884+2745G>A) c.196G>A (p.Val66Met) c.68-5293G>A (n.68-5293G>A) c.*871-5293G>A (n.*871-5293G>A) n.727G>A c.*30G>A (n.*30G>A) c.872G>A n.950G>A n.301G>A c.*711G>A (n.*711G>A) c.677+8245G>A (n.677+8245G>A) c.*1059G>A (n.*1059G>A) c.*797G>A (n.*797G>A) n.810G>A n.767G>A c.114-5293G>A c.206G>A c.894G>A c.225+2745G>A c.712G>A (p.Val238Met) c.-105G>A (n.-105G>A) c.-36-5293G>A (n.-36-5293G>A) c.820G>A (p.Val274Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.37020344G>C | CA352048613 | MLH1 | c.919G>C (p.Val307Leu) c.625G>C (p.Val209Leu) c.884+2745G>C (n.884+2745G>C) c.196G>C (p.Val66Leu) c.68-5293G>C (n.68-5293G>C) c.*871-5293G>C (n.*871-5293G>C) n.727G>C c.*30G>C (n.*30G>C) c.872G>C n.950G>C n.301G>C c.*711G>C (n.*711G>C) c.677+8245G>C (n.677+8245G>C) c.*1059G>C (n.*1059G>C) c.*797G>C (n.*797G>C) n.810G>C n.767G>C c.114-5293G>C c.206G>C c.894G>C c.225+2745G>C c.712G>C (p.Val238Leu) c.-105G>C (n.-105G>C) c.-36-5293G>C (n.-36-5293G>C) c.820G>C (p.Val274Leu) | dbSNP |
| 3 | g.37020344G= | CA1357877248 | MLH1 | c.919G= (p.Val307=) c.625G= (p.Val209=) c.884+2745G= (n.884+2745G=) c.196G= (p.Val66=) c.68-5293G= (n.68-5293G=) c.*871-5293G= (n.*871-5293G=) n.727G= c.*30G= (n.*30G=) c.872G= n.950G= n.301G= c.*711G= (n.*711G=) c.677+8245G= (n.677+8245G=) c.*1059G= (n.*1059G=) c.*797G= (n.*797G=) n.810G= n.767G= c.114-5293G= c.206G= c.894G= c.225+2745G= c.712G= (p.Val238=) c.-105G= (n.-105G=) c.-36-5293G= (n.-36-5293G=) c.820G= (p.Val274=) | |
| 3 | g.37020344G>T | CA352048605 | MLH1 | c.919G>T (p.Val307Leu) c.625G>T (p.Val209Leu) c.884+2745G>T (n.884+2745G>T) c.196G>T (p.Val66Leu) c.68-5293G>T (n.68-5293G>T) c.*871-5293G>T (n.*871-5293G>T) n.727G>T c.*30G>T (n.*30G>T) c.872G>T n.950G>T n.301G>T c.*711G>T (n.*711G>T) c.677+8245G>T (n.677+8245G>T) c.*1059G>T (n.*1059G>T) c.*797G>T (n.*797G>T) n.810G>T n.767G>T c.114-5293G>T c.206G>T c.894G>T c.225+2745G>T c.712G>T (p.Val238Leu) c.-105G>T (n.-105G>T) c.-36-5293G>T (n.-36-5293G>T) c.820G>T (p.Val274Leu) | |
| 3 | g.37020345T>A | CA352048619 | MLH1 | c.920T>A (p.Val307Glu) c.626T>A (p.Val209Glu) c.884+2746T>A (n.884+2746T>A) c.197T>A (p.Val66Glu) c.68-5292T>A (n.68-5292T>A) c.*871-5292T>A (n.*871-5292T>A) n.728T>A c.*31T>A (n.*31T>A) c.873T>A n.951T>A n.302T>A c.*712T>A (n.*712T>A) c.677+8246T>A (n.677+8246T>A) c.*1060T>A (n.*1060T>A) c.*798T>A (n.*798T>A) n.811T>A n.768T>A c.114-5292T>A c.207T>A c.895T>A c.225+2746T>A c.713T>A (p.Val238Glu) c.-104T>A (n.-104T>A) c.-36-5292T>A (n.-36-5292T>A) c.821T>A (p.Val274Glu) | dbSNP |
| 3 | g.37020345T>C | CA335789 | MLH1 | c.920T>C (p.Val307Ala) c.626T>C (p.Val209Ala) c.884+2746T>C (n.884+2746T>C) c.197T>C (p.Val66Ala) c.68-5292T>C (n.68-5292T>C) c.*871-5292T>C (n.*871-5292T>C) n.728T>C c.*31T>C (n.*31T>C) c.873T>C n.951T>C n.302T>C c.*712T>C (n.*712T>C) c.677+8246T>C (n.677+8246T>C) c.*1060T>C (n.*1060T>C) c.*798T>C (n.*798T>C) n.811T>C n.768T>C c.114-5292T>C c.207T>C c.895T>C c.225+2746T>C c.713T>C (p.Val238Ala) c.-104T>C (n.-104T>C) c.-36-5292T>C (n.-36-5292T>C) c.821T>C (p.Val274Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.37020345T>G | CA352048620 | MLH1 | c.920T>G (p.Val307Gly) c.626T>G (p.Val209Gly) c.884+2746T>G (n.884+2746T>G) c.197T>G (p.Val66Gly) c.68-5292T>G (n.68-5292T>G) c.*871-5292T>G (n.*871-5292T>G) n.728T>G c.*31T>G (n.*31T>G) c.873T>G n.951T>G n.302T>G c.*712T>G (n.*712T>G) c.677+8246T>G (n.677+8246T>G) c.*1060T>G (n.*1060T>G) c.*798T>G (n.*798T>G) n.811T>G n.768T>G c.114-5292T>G c.207T>G c.895T>G c.225+2746T>G c.713T>G (p.Val238Gly) c.-104T>G (n.-104T>G) c.-36-5292T>G (n.-36-5292T>G) c.821T>G (p.Val274Gly) | dbSNP |
| 3 | g.37020345T= | CA1357877251 | MLH1 | c.920T= (p.Val307=) c.626T= (p.Val209=) c.884+2746T= (n.884+2746T=) c.197T= (p.Val66=) c.68-5292T= (n.68-5292T=) c.*871-5292T= (n.*871-5292T=) n.728T= c.*31T= (n.*31T=) c.873T= n.951T= n.302T= c.*712T= (n.*712T=) c.677+8246T= (n.677+8246T=) c.*1060T= (n.*1060T=) c.*798T= (n.*798T=) n.811T= n.768T= c.114-5292T= c.207T= c.895T= c.225+2746T= c.713T= (p.Val238=) c.-104T= (n.-104T=) c.-36-5292T= (n.-36-5292T=) c.821T= (p.Val274=) | |
| 3 | g.37020346G>A | CA433077371 | MLH1 | c.921G>A (p.Val307=) c.627G>A (p.Val209=) c.884+2747G>A (n.884+2747G>A) c.198G>A (p.Val66=) c.68-5291G>A (n.68-5291G>A) c.*871-5291G>A (n.*871-5291G>A) n.729G>A c.*32G>A (n.*32G>A) c.874G>A n.952G>A n.303G>A c.*713G>A (n.*713G>A) c.677+8247G>A (n.677+8247G>A) c.*1061G>A (n.*1061G>A) c.*799G>A (n.*799G>A) n.812G>A n.769G>A c.114-5291G>A c.208G>A c.896G>A c.225+2747G>A c.714G>A (p.Val238=) c.-103G>A (n.-103G>A) c.-36-5291G>A (n.-36-5291G>A) c.822G>A (p.Val274=) | dbSNP |
| 3 | g.37020346G>C | CA433077373 | MLH1 | c.921G>C (p.Val307=) c.627G>C (p.Val209=) c.884+2747G>C (n.884+2747G>C) c.198G>C (p.Val66=) c.68-5291G>C (n.68-5291G>C) c.*871-5291G>C (n.*871-5291G>C) n.729G>C c.*32G>C (n.*32G>C) c.874G>C n.952G>C n.303G>C c.*713G>C (n.*713G>C) c.677+8247G>C (n.677+8247G>C) c.*1061G>C (n.*1061G>C) c.*799G>C (n.*799G>C) n.812G>C n.769G>C c.114-5291G>C c.208G>C c.896G>C c.225+2747G>C c.714G>C (p.Val238=) c.-103G>C (n.-103G>C) c.-36-5291G>C (n.-36-5291G>C) c.822G>C (p.Val274=) | ClinVar dbSNP |
| 3 | g.37020346G= | CA1357877258 | MLH1 | c.921G= (p.Val307=) c.627G= (p.Val209=) c.884+2747G= (n.884+2747G=) c.198G= (p.Val66=) c.68-5291G= (n.68-5291G=) c.*871-5291G= (n.*871-5291G=) n.729G= c.*32G= (n.*32G=) c.874G= n.952G= n.303G= c.*713G= (n.*713G=) c.677+8247G= (n.677+8247G=) c.*1061G= (n.*1061G=) c.*799G= (n.*799G=) n.812G= n.769G= c.114-5291G= c.208G= c.896G= c.225+2747G= c.714G= (p.Val238=) c.-103G= (n.-103G=) c.-36-5291G= (n.-36-5291G=) c.822G= (p.Val274=) | |
| 3 | g.37020346G>T | CA433077374 | MLH1 | c.921G>T (p.Val307=) c.627G>T (p.Val209=) c.884+2747G>T (n.884+2747G>T) c.198G>T (p.Val66=) c.68-5291G>T (n.68-5291G>T) c.*871-5291G>T (n.*871-5291G>T) n.729G>T c.*32G>T (n.*32G>T) c.874G>T n.952G>T n.303G>T c.*713G>T (n.*713G>T) c.677+8247G>T (n.677+8247G>T) c.*1061G>T (n.*1061G>T) c.*799G>T (n.*799G>T) n.812G>T n.769G>T c.114-5291G>T c.208G>T c.896G>T c.225+2747G>T c.714G>T (p.Val238=) c.-103G>T (n.-103G>T) c.-36-5291G>T (n.-36-5291G>T) c.822G>T (p.Val274=) | |
| 3 | g.37020346_37020347dup | CA013112 | MLH1 | c.921_922dup (p.His308ArgfsTer?) c.627_628dup (p.His210ArgfsTer?) c.884+2747_884+2748dup (n.884+2747_884+2748dup) c.198_199dup (p.His67ArgfsTer?) c.68-5291_68-5290dup (n.68-5291_68-5290dup) c.*871-5291_*871-5290dup (n.*871-5291_*871-5290dup) n.729_730dup c.*32_*33dup (n.*32_*33dup) c.874_875dup n.952_953dup n.303_304dup c.*713_*714dup (n.*713_*714dup) c.677+8247_677+8248dup (n.677+8247_677+8248dup) c.*1061_*1062dup (n.*1061_*1062dup) c.*799_*800dup (n.*799_*800dup) n.812_813dup n.769_770dup c.114-5291_114-5290dup c.208_209dup c.896_897dup c.225+2747_225+2748dup c.714_715dup (p.His239ArgfsTer?) c.-103_-102dup (n.-103_-102dup) c.-36-5291_-36-5290dup (n.-36-5291_-36-5290dup) c.822_823dup (p.His275ArgfsTer?) | ClinVar dbSNP |
| 3 | g.37020347C>A | CA352048627 | MLH1 | c.922C>A (p.His308Asn) c.628C>A (p.His210Asn) c.884+2748C>A (n.884+2748C>A) c.199C>A (p.His67Asn) c.68-5290C>A (n.68-5290C>A) c.*871-5290C>A (n.*871-5290C>A) n.730C>A c.*33C>A (n.*33C>A) c.875C>A n.953C>A n.304C>A c.*714C>A (n.*714C>A) c.677+8248C>A (n.677+8248C>A) c.*1062C>A (n.*1062C>A) c.*800C>A (n.*800C>A) n.813C>A n.770C>A c.114-5290C>A c.209C>A c.897C>A c.225+2748C>A c.715C>A (p.His239Asn) c.-102C>A (n.-102C>A) c.-36-5290C>A (n.-36-5290C>A) c.823C>A (p.His275Asn) | |
| 3 | g.37020347C= | CA1357877262 | MLH1 | c.922C= (p.His308=) c.628C= (p.His210=) c.884+2748C= (n.884+2748C=) c.199C= (p.His67=) c.68-5290C= (n.68-5290C=) c.*871-5290C= (n.*871-5290C=) n.730C= c.*33C= (n.*33C=) c.875C= n.953C= n.304C= c.*714C= (n.*714C=) c.677+8248C= (n.677+8248C=) c.*1062C= (n.*1062C=) c.*800C= (n.*800C=) n.813C= n.770C= c.114-5290C= c.209C= c.897C= c.225+2748C= c.715C= (p.His239=) c.-102C= (n.-102C=) c.-36-5290C= (n.-36-5290C=) c.823C= (p.His275=) |