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.37023308_37026834del | CA330647 | MLH1 | c.1039-2329_1409+827del c.745-2329_1115+827del c.885-2329_*310+827del c.316-2329_686+827del c.68-2329_*327+827del c.*871-2329_*1241+827del c.*150-2329_*520+827del c.76-2329_446+827del c.992-2329_1362+827del n.421-2329_791+827del c.*831-2329_*1201+827del c.678-5476_678-1950del (n.678-5476_678-1950del) c.*1179-2329_*1549+827del c.*917-2329_*1287+827del n.930-2329_1300+827del n.887-2329_1257+827del c.114-2329_484+827del c.1014-2329_1384+827del c.226-2329_596+827del c.832-2329_1202+827del c.16-2329_386+827del c.-36-2329_335+827del c.940-2329_1310+827del | ClinVar |
| 3 | g.37024963_37026034del | CA330649 | MLH1 | c.1039-674_1409+27del c.745-674_1115+27del c.885-674_*310+27del c.316-674_686+27del c.68-674_*327+27del c.*871-674_*1241+27del n.847-674_1244del c.*150-674_*520+27del c.76-674_446+27del c.992-674_1362+27del n.1163-674_1560del n.421-674_791+27del c.*831-674_*1201+27del c.678-3821_678-2750del (n.678-3821_678-2750del) c.*1179-674_*1549+27del c.*917-674_*1287+27del n.930-674_1300+27del n.887-674_1257+27del c.114-674_484+27del c.1014-674_1384+27del c.226-674_596+27del c.832-674_1202+27del c.16-674_386+27del c.-36-674_335+27del c.940-674_1310+27del | ClinVar |
| 3 | g.37025630_37029829dup | CA658760872 | MLH1 | c.1039-7_1558+897dup c.745-7_1264+897dup c.316-7_835+897dup c.68-7_*476+897dup c.*871-7_*1390+897dup c.*150-7_*669+897dup c.76-7_595+897dup c.992-7_1511+897dup n.421-7_940+897dup c.*831-7_*1350+897dup c.678-3154_826+897dup c.*1179-7_*1698+897dup c.*917-7_*1436+897dup n.930-7_1449+897dup n.887-7_2303dup c.114-7_633+897dup c.1014-7_1533+897dup c.832-7_1351+897dup c.16-7_535+897dup c.-36-7_484+897dup c.940-7_1459+897dup | |
| 3 | g.37025635_37026157del | CA2499216693 | MLH1 | c.1039-2_1409+150del c.745-2_1115+150del c.885-2_*310+150del c.316-2_686+150del c.68-2_*327+150del c.*871-2_*1241+150del c.*150-2_*520+150del c.76-2_446+150del c.992-2_1362+150del n.421-2_791+150del c.*831-2_*1201+150del c.678-3149_678-2627del (n.678-3149_678-2627del) c.*1179-2_*1549+150del c.*917-2_*1287+150del n.930-2_1300+150del n.887-2_1257+150del c.114-2_484+150del c.1014-2_1384+150del c.226-2_596+150del c.832-2_1202+150del c.16-2_386+150del c.-36-2_335+150del c.940-2_1310+150del | ClinVar dbSNP |
| 3 | g.37025635_37026008del | CA2499216694 | MLH1 | c.1039-2_1409+1del c.745-2_1115+1del c.885-2_*310+1del c.316-2_686+1del c.68-2_*327+1del c.*871-2_*1241+1del n.847-2_1218del c.*150-2_*520+1del c.76-2_446+1del c.992-2_1362+1del n.1163-2_1534del n.421-2_791+1del c.*831-2_*1201+1del c.678-3149_678-2776del (n.678-3149_678-2776del) c.*1179-2_*1549+1del c.*917-2_*1287+1del n.930-2_1300+1del n.887-2_1257+1del c.114-2_484+1del c.1014-2_1384+1del c.226-2_596+1del c.832-2_1202+1del c.16-2_386+1del c.-36-2_335+1del c.940-2_1310+1del | ClinVar dbSNP |
| 3 | g.37025684_37025690dup | CA2580069498 | MLH1 | c.1086_1092dup (p.Ser365HisfsTer13) c.792_798dup (p.Ser267HisfsTer13) c.932_938dup (p.Gln313HisfsTer?) c.363_369dup (p.Ser124HisfsTer13) c.*4_*10dup (n.*4_*10dup) c.*918_*924dup (n.*918_*924dup) n.894_900dup c.*197_*203dup (n.*197_*203dup) c.123_129dup (p.Ser44HisfsTer13) c.1039_1045dup n.1210_1216dup n.468_474dup c.*878_*884dup (n.*878_*884dup) c.678-3100_678-3094dup (n.678-3100_678-3094dup) c.*1226_*1232dup (n.*1226_*1232dup) c.*964_*970dup (n.*964_*970dup) n.977_983dup n.934_940dup c.161_167dup c.373_379dup c.1061_1067dup c.273_279dup c.879_885dup (p.Ser296HisfsTer13) c.63_69dup (p.Ser24HisfsTer13) c.12_18dup (p.Ser7HisfsTer13) c.987_993dup (p.Ser332HisfsTer13) | ClinVar |
| 3 | g.37025689_37025691del | CA10578243 | MLH1 | c.1091_1093del (p.Thr364del) c.797_799del (p.Thr266del) c.937_939del (p.Gln313del) c.368_370del (p.Thr123del) c.*9_*11del (n.*9_*11del) c.*923_*925del (n.*923_*925del) n.899_901del c.*202_*204del (n.*202_*204del) c.128_130del (p.Thr43del) c.1044_1046del n.1215_1217del n.473_475del c.*883_*885del (n.*883_*885del) c.678-3095_678-3093del (n.678-3095_678-3093del) c.*1231_*1233del (n.*1231_*1233del) c.*969_*971del (n.*969_*971del) n.982_984del n.939_941del c.166_168del c.378_380del c.1066_1068del c.278_280del c.884_886del (p.Thr295del) c.68_70del (p.Thr23del) c.17_19del (p.Thr6del) c.992_994del (p.Thr331del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.37025688del | CA10578242 | MLH1 | c.1090del (p.Thr364GlnfsTer3) c.796del (p.Thr266GlnfsTer3) c.936del (p.Gln312HisfsTer12) c.367del (p.Thr123GlnfsTer3) c.*8del (n.*8del) c.*922del (n.*922del) n.898del c.*201del (n.*201del) c.127del (p.Thr43GlnfsTer3) c.1043del n.1214del n.472del c.*882del (n.*882del) c.678-3096del (n.678-3096del) c.*1230del (n.*1230del) c.*968del (n.*968del) n.981del n.938del c.165del c.377del c.1065del c.277del c.883del (p.Thr295GlnfsTer3) c.67del (p.Thr23GlnfsTer3) c.16del (p.Thr6GlnfsTer3) c.991del (p.Thr331GlnfsTer3) | ClinVar dbSNP |
| 3 | g.37025688A= | CA1357880276 | MLH1 | c.1090A= (p.Thr364=) c.796A= (p.Thr266=) c.936A= (p.Gln312=) c.367A= (p.Thr123=) c.*8A= (n.*8A=) c.*922A= (n.*922A=) n.898A= c.*201A= (n.*201A=) c.127A= (p.Thr43=) c.1043A= n.1214A= n.472A= c.*882A= (n.*882A=) c.678-3096A= (n.678-3096A=) c.*1230A= (n.*1230A=) c.*968A= (n.*968A=) n.981A= n.938A= c.165A= c.377A= c.1065A= c.277A= c.883A= (p.Thr295=) c.67A= (p.Thr23=) c.16A= (p.Thr6=) c.991A= (p.Thr331=) | |
| 3 | g.37025688A>C | CA352052119 | MLH1 | c.1090A>C (p.Thr364Pro) c.796A>C (p.Thr266Pro) c.936A>C (p.Gln312His) c.367A>C (p.Thr123Pro) c.*8A>C (n.*8A>C) c.*922A>C (n.*922A>C) n.898A>C c.*201A>C (n.*201A>C) c.127A>C (p.Thr43Pro) c.1043A>C n.1214A>C n.472A>C c.*882A>C (n.*882A>C) c.678-3096A>C (n.678-3096A>C) c.*1230A>C (n.*1230A>C) c.*968A>C (n.*968A>C) n.981A>C n.938A>C c.165A>C c.377A>C c.1065A>C c.277A>C c.883A>C (p.Thr295Pro) c.67A>C (p.Thr23Pro) c.16A>C (p.Thr6Pro) c.991A>C (p.Thr331Pro) | ClinVar dbSNP gnomAD v4 |
| 3 | g.37025688A>G | CA004320 | MLH1 | c.1090A>G (p.Thr364Ala) c.796A>G (p.Thr266Ala) c.936A>G (p.Gln312=) c.367A>G (p.Thr123Ala) c.*8A>G (n.*8A>G) c.*922A>G (n.*922A>G) n.898A>G c.*201A>G (n.*201A>G) c.127A>G (p.Thr43Ala) c.1043A>G n.1214A>G n.472A>G c.*882A>G (n.*882A>G) c.678-3096A>G (n.678-3096A>G) c.*1230A>G (n.*1230A>G) c.*968A>G (n.*968A>G) n.981A>G n.938A>G c.165A>G c.377A>G c.1065A>G c.277A>G c.883A>G (p.Thr295Ala) c.67A>G (p.Thr23Ala) c.16A>G (p.Thr6Ala) c.991A>G (p.Thr331Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.37025688A>T | CA352052120 | MLH1 | c.1090A>T (p.Thr364Ser) c.796A>T (p.Thr266Ser) c.936A>T (p.Gln312His) c.367A>T (p.Thr123Ser) c.*8A>T (n.*8A>T) c.*922A>T (n.*922A>T) n.898A>T c.*201A>T (n.*201A>T) c.127A>T (p.Thr43Ser) c.1043A>T n.1214A>T n.472A>T c.*882A>T (n.*882A>T) c.678-3096A>T (n.678-3096A>T) c.*1230A>T (n.*1230A>T) c.*968A>T (n.*968A>T) n.981A>T n.938A>T c.165A>T c.377A>T c.1065A>T c.277A>T c.883A>T (p.Thr295Ser) c.67A>T (p.Thr23Ser) c.16A>T (p.Thr6Ser) c.991A>T (p.Thr331Ser) | dbSNP |
| 3 | g.37025689_37025690del | CA2580069502 | MLH1 | c.1091_1092del (p.Thr364LysfsTer11) c.797_798del (p.Thr266LysfsTer11) c.937_938del (p.Gln313SerfsTer?) c.368_369del (p.Thr123LysfsTer11) c.*9_*10del (n.*9_*10del) c.*923_*924del (n.*923_*924del) n.899_900del c.*202_*203del (n.*202_*203del) c.128_129del (p.Thr43LysfsTer11) c.1044_1045del n.1215_1216del n.473_474del c.*883_*884del (n.*883_*884del) c.678-3095_678-3094del (n.678-3095_678-3094del) c.*1231_*1232del (n.*1231_*1232del) c.*969_*970del (n.*969_*970del) n.982_983del n.939_940del c.166_167del c.378_379del c.1066_1067del c.278_279del c.884_885del (p.Thr295LysfsTer11) c.68_69del (p.Thr23LysfsTer11) c.17_18del (p.Thr6LysfsTer11) c.992_993del (p.Thr331LysfsTer11) | ClinVar |
| 3 | g.37025689C>A | CA72795993 | MLH1 | c.1091C>A (p.Thr364Lys) c.797C>A (p.Thr266Lys) c.937C>A (p.Gln313Lys) c.368C>A (p.Thr123Lys) c.*9C>A (n.*9C>A) c.*923C>A (n.*923C>A) n.899C>A c.*202C>A (n.*202C>A) c.128C>A (p.Thr43Lys) c.1044C>A n.1215C>A n.473C>A c.*883C>A (n.*883C>A) c.678-3095C>A (n.678-3095C>A) c.*1231C>A (n.*1231C>A) c.*969C>A (n.*969C>A) n.982C>A n.939C>A c.166C>A c.378C>A c.1066C>A c.278C>A c.884C>A (p.Thr295Lys) c.68C>A (p.Thr23Lys) c.17C>A (p.Thr6Lys) c.992C>A (p.Thr331Lys) | dbSNP |
| 3 | g.37025689C= | CA1357880277 | MLH1 | c.1091C= (p.Thr364=) c.797C= (p.Thr266=) c.937C= (p.Gln313=) c.368C= (p.Thr123=) c.*9C= (n.*9C=) c.*923C= (n.*923C=) n.899C= c.*202C= (n.*202C=) c.128C= (p.Thr43=) c.1044C= n.1215C= n.473C= c.*883C= (n.*883C=) c.678-3095C= (n.678-3095C=) c.*1231C= (n.*1231C=) c.*969C= (n.*969C=) n.982C= n.939C= c.166C= c.378C= c.1066C= c.278C= c.884C= (p.Thr295=) c.68C= (p.Thr23=) c.17C= (p.Thr6=) c.992C= (p.Thr331=) | |
| 3 | g.37025689C>G | CA352052123 | MLH1 | c.1091C>G (p.Thr364Arg) c.797C>G (p.Thr266Arg) c.937C>G (p.Gln313Glu) c.368C>G (p.Thr123Arg) c.*9C>G (n.*9C>G) c.*923C>G (n.*923C>G) n.899C>G c.*202C>G (n.*202C>G) c.128C>G (p.Thr43Arg) c.1044C>G n.1215C>G n.473C>G c.*883C>G (n.*883C>G) c.678-3095C>G (n.678-3095C>G) c.*1231C>G (n.*1231C>G) c.*969C>G (n.*969C>G) n.982C>G n.939C>G c.166C>G c.378C>G c.1066C>G c.278C>G c.884C>G (p.Thr295Arg) c.68C>G (p.Thr23Arg) c.17C>G (p.Thr6Arg) c.992C>G (p.Thr331Arg) | |
| 3 | g.37025689C>T | CA352052125 | MLH1 | c.1091C>T (p.Thr364Ile) c.797C>T (p.Thr266Ile) c.937C>T (p.Gln313Ter) c.368C>T (p.Thr123Ile) c.*9C>T (n.*9C>T) c.*923C>T (n.*923C>T) n.899C>T c.*202C>T (n.*202C>T) c.128C>T (p.Thr43Ile) c.1044C>T n.1215C>T n.473C>T c.*883C>T (n.*883C>T) c.678-3095C>T (n.678-3095C>T) c.*1231C>T (n.*1231C>T) c.*969C>T (n.*969C>T) n.982C>T n.939C>T c.166C>T c.378C>T c.1066C>T c.278C>T c.884C>T (p.Thr295Ile) c.68C>T (p.Thr23Ile) c.17C>T (p.Thr6Ile) c.992C>T (p.Thr331Ile) | |
| 3 | g.37025690A>C | CA433321692 | MLH1 | c.1092A>C (p.Thr364=) c.798A>C (p.Thr266=) c.938A>C (p.Gln313Pro) c.369A>C (p.Thr123=) c.*10A>C (n.*10A>C) c.*924A>C (n.*924A>C) n.900A>C c.*203A>C (n.*203A>C) c.129A>C (p.Thr43=) c.1045A>C n.1216A>C n.474A>C c.*884A>C (n.*884A>C) c.678-3094A>C (n.678-3094A>C) c.*1232A>C (n.*1232A>C) c.*970A>C (n.*970A>C) n.983A>C n.940A>C c.167A>C c.379A>C c.1067A>C c.279A>C c.885A>C (p.Thr295=) c.69A>C (p.Thr23=) c.18A>C (p.Thr6=) c.993A>C (p.Thr331=) | |
| 3 | g.37025690A>G | CA433321690 | MLH1 | c.1092A>G (p.Thr364=) c.798A>G (p.Thr266=) c.938A>G (p.Gln313Arg) c.369A>G (p.Thr123=) c.*10A>G (n.*10A>G) c.*924A>G (n.*924A>G) n.900A>G c.*203A>G (n.*203A>G) c.129A>G (p.Thr43=) c.1045A>G n.1216A>G n.474A>G c.*884A>G (n.*884A>G) c.678-3094A>G (n.678-3094A>G) c.*1232A>G (n.*1232A>G) c.*970A>G (n.*970A>G) n.983A>G n.940A>G c.167A>G c.379A>G c.1067A>G c.279A>G c.885A>G (p.Thr295=) c.69A>G (p.Thr23=) c.18A>G (p.Thr6=) c.993A>G (p.Thr331=) | gnomAD v4 |
| 3 | g.37025690A>T | CA433321691 | MLH1 | c.1092A>T (p.Thr364=) c.798A>T (p.Thr266=) c.938A>T (p.Gln313Leu) c.369A>T (p.Thr123=) c.*10A>T (n.*10A>T) c.*924A>T (n.*924A>T) n.900A>T c.*203A>T (n.*203A>T) c.129A>T (p.Thr43=) c.1045A>T n.1216A>T n.474A>T c.*884A>T (n.*884A>T) c.678-3094A>T (n.678-3094A>T) c.*1232A>T (n.*1232A>T) c.*970A>T (n.*970A>T) n.983A>T n.940A>T c.167A>T c.379A>T c.1067A>T c.279A>T c.885A>T (p.Thr295=) c.69A>T (p.Thr23=) c.18A>T (p.Thr6=) c.993A>T (p.Thr331=) | dbSNP |
| 3 | g.37025691A= | CA1357880278 | MLH1 | c.1093A= (p.Ser365=) c.799A= (p.Ser267=) c.939A= (p.Gln313=) c.370A= (p.Ser124=) c.*11A= (n.*11A=) c.*925A= (n.*925A=) n.901A= c.*204A= (n.*204A=) c.130A= (p.Ser44=) c.1046A= n.1217A= n.475A= c.*885A= (n.*885A=) c.678-3093A= (n.678-3093A=) c.*1233A= (n.*1233A=) c.*971A= (n.*971A=) n.984A= n.941A= c.168A= c.380A= c.1068A= c.280A= c.886A= (p.Ser296=) c.70A= (p.Ser24=) c.19A= (p.Ser7=) c.994A= (p.Ser332=) | |
| 3 | g.37025691A>C | CA352052127 | MLH1 | c.1093A>C (p.Ser365Arg) c.799A>C (p.Ser267Arg) c.939A>C (p.Gln313His) c.370A>C (p.Ser124Arg) c.*11A>C (n.*11A>C) c.*925A>C (n.*925A>C) n.901A>C c.*204A>C (n.*204A>C) c.130A>C (p.Ser44Arg) c.1046A>C n.1217A>C n.475A>C c.*885A>C (n.*885A>C) c.678-3093A>C (n.678-3093A>C) c.*1233A>C (n.*1233A>C) c.*971A>C (n.*971A>C) n.984A>C n.941A>C c.168A>C c.380A>C c.1068A>C c.280A>C c.886A>C (p.Ser296Arg) c.70A>C (p.Ser24Arg) c.19A>C (p.Ser7Arg) c.994A>C (p.Ser332Arg) | ClinVar dbSNP |
| 3 | g.37025691A>G | CA352052129 | MLH1 | c.1093A>G (p.Ser365Gly) c.799A>G (p.Ser267Gly) c.939A>G (p.Gln313=) c.370A>G (p.Ser124Gly) c.*11A>G (n.*11A>G) c.*925A>G (n.*925A>G) n.901A>G c.*204A>G (n.*204A>G) c.130A>G (p.Ser44Gly) c.1046A>G n.1217A>G n.475A>G c.*885A>G (n.*885A>G) c.678-3093A>G (n.678-3093A>G) c.*1233A>G (n.*1233A>G) c.*971A>G (n.*971A>G) n.984A>G n.941A>G c.168A>G c.380A>G c.1068A>G c.280A>G c.886A>G (p.Ser296Gly) c.70A>G (p.Ser24Gly) c.19A>G (p.Ser7Gly) c.994A>G (p.Ser332Gly) | ClinVar gnomAD v4 |
| 3 | g.37025691A>T | CA352052131 | MLH1 | c.1093A>T (p.Ser365Cys) c.799A>T (p.Ser267Cys) c.939A>T (p.Gln313His) c.370A>T (p.Ser124Cys) c.*11A>T (n.*11A>T) c.*925A>T (n.*925A>T) n.901A>T c.*204A>T (n.*204A>T) c.130A>T (p.Ser44Cys) c.1046A>T n.1217A>T n.475A>T c.*885A>T (n.*885A>T) c.678-3093A>T (n.678-3093A>T) c.*1233A>T (n.*1233A>T) c.*971A>T (n.*971A>T) n.984A>T n.941A>T c.168A>T c.380A>T c.1068A>T c.280A>T c.886A>T (p.Ser296Cys) c.70A>T (p.Ser24Cys) c.19A>T (p.Ser7Cys) c.994A>T (p.Ser332Cys) | dbSNP |
| 3 | g.37025692G>A | CA352052133 | MLH1 | c.1094G>A (p.Ser365Asn) c.800G>A (p.Ser267Asn) c.940G>A (p.Val314Ile) c.371G>A (p.Ser124Asn) c.*12G>A (n.*12G>A) c.*926G>A (n.*926G>A) n.902G>A c.*205G>A (n.*205G>A) c.131G>A (p.Ser44Asn) c.1047G>A n.1218G>A n.476G>A c.*886G>A (n.*886G>A) c.678-3092G>A (n.678-3092G>A) c.*1234G>A (n.*1234G>A) c.*972G>A (n.*972G>A) n.985G>A n.942G>A c.169G>A c.381G>A c.1069G>A c.281G>A c.887G>A (p.Ser296Asn) c.71G>A (p.Ser24Asn) c.20G>A (p.Ser7Asn) c.995G>A (p.Ser332Asn) | ClinVar dbSNP |
| 3 | g.37025692G>C | CA352052135 | MLH1 | c.1094G>C (p.Ser365Thr) c.800G>C (p.Ser267Thr) c.940G>C (p.Val314Leu) c.371G>C (p.Ser124Thr) c.*12G>C (n.*12G>C) c.*926G>C (n.*926G>C) n.902G>C c.*205G>C (n.*205G>C) c.131G>C (p.Ser44Thr) c.1047G>C n.1218G>C n.476G>C c.*886G>C (n.*886G>C) c.678-3092G>C (n.678-3092G>C) c.*1234G>C (n.*1234G>C) c.*972G>C (n.*972G>C) n.985G>C n.942G>C c.169G>C c.381G>C c.1069G>C c.281G>C c.887G>C (p.Ser296Thr) c.71G>C (p.Ser24Thr) c.20G>C (p.Ser7Thr) c.995G>C (p.Ser332Thr) | dbSNP |
| 3 | g.37025692G>T | CA352052137 | MLH1 | c.1094G>T (p.Ser365Ile) c.800G>T (p.Ser267Ile) c.940G>T (p.Val314Phe) c.371G>T (p.Ser124Ile) c.*12G>T (n.*12G>T) c.*926G>T (n.*926G>T) n.902G>T c.*205G>T (n.*205G>T) c.131G>T (p.Ser44Ile) c.1047G>T n.1218G>T n.476G>T c.*886G>T (n.*886G>T) c.678-3092G>T (n.678-3092G>T) c.*1234G>T (n.*1234G>T) c.*972G>T (n.*972G>T) n.985G>T n.942G>T c.169G>T c.381G>T c.1069G>T c.281G>T c.887G>T (p.Ser296Ile) c.71G>T (p.Ser24Ile) c.20G>T (p.Ser7Ile) c.995G>T (p.Ser332Ile) | dbSNP |
| 3 | g.37025693T>A | CA352052140 | MLH1 | c.1095T>A (p.Ser365Arg) c.801T>A (p.Ser267Arg) c.941T>A (p.Val314Asp) c.372T>A (p.Ser124Arg) c.*13T>A (n.*13T>A) c.*927T>A (n.*927T>A) n.903T>A c.*206T>A (n.*206T>A) c.132T>A (p.Ser44Arg) c.1048T>A n.1219T>A n.477T>A c.*887T>A (n.*887T>A) c.678-3091T>A (n.678-3091T>A) c.*1235T>A (n.*1235T>A) c.*973T>A (n.*973T>A) n.986T>A n.943T>A c.170T>A c.382T>A c.1070T>A c.282T>A c.888T>A (p.Ser296Arg) c.72T>A (p.Ser24Arg) c.21T>A (p.Ser7Arg) c.996T>A (p.Ser332Arg) | ClinVar dbSNP |
| 3 | g.37025693T>C | CA027107 | MLH1 | c.1095T>C (p.Ser365=) c.801T>C (p.Ser267=) c.941T>C (p.Val314Ala) c.372T>C (p.Ser124=) c.*13T>C (n.*13T>C) c.*927T>C (n.*927T>C) n.903T>C c.*206T>C (n.*206T>C) c.132T>C (p.Ser44=) c.1048T>C n.1219T>C n.477T>C c.*887T>C (n.*887T>C) c.678-3091T>C (n.678-3091T>C) c.*1235T>C (n.*1235T>C) c.*973T>C (n.*973T>C) n.986T>C n.943T>C c.170T>C c.382T>C c.1070T>C c.282T>C c.888T>C (p.Ser296=) c.72T>C (p.Ser24=) c.21T>C (p.Ser7=) c.996T>C (p.Ser332=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.37025693T>G | CA027117 | MLH1 | c.1095T>G (p.Ser365Arg) c.801T>G (p.Ser267Arg) c.941T>G (p.Val314Gly) c.372T>G (p.Ser124Arg) c.*13T>G (n.*13T>G) c.*927T>G (n.*927T>G) n.903T>G c.*206T>G (n.*206T>G) c.132T>G (p.Ser44Arg) c.1048T>G n.1219T>G n.477T>G c.*887T>G (n.*887T>G) c.678-3091T>G (n.678-3091T>G) c.*1235T>G (n.*1235T>G) c.*973T>G (n.*973T>G) n.986T>G n.943T>G c.170T>G c.382T>G c.1070T>G c.282T>G c.888T>G (p.Ser296Arg) c.72T>G (p.Ser24Arg) c.21T>G (p.Ser7Arg) c.996T>G (p.Ser332Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.37025693T= | CA1357880279 | MLH1 | c.1095T= (p.Ser365=) c.801T= (p.Ser267=) c.941T= (p.Val314=) c.372T= (p.Ser124=) c.*13T= (n.*13T=) c.*927T= (n.*927T=) n.903T= c.*206T= (n.*206T=) c.132T= (p.Ser44=) c.1048T= n.1219T= n.477T= c.*887T= (n.*887T=) c.678-3091T= (n.678-3091T=) c.*1235T= (n.*1235T=) c.*973T= (n.*973T=) n.986T= n.943T= c.170T= c.382T= c.1070T= c.282T= c.888T= (p.Ser296=) c.72T= (p.Ser24=) c.21T= (p.Ser7=) c.996T= (p.Ser332=) | |
| 3 | g.37025694C>A | CA352052144 | MLH1 | c.1096C>A (p.Leu366Met) c.802C>A (p.Leu268Met) c.942C>A (p.Val314=) c.373C>A (p.Leu125Met) c.*14C>A (n.*14C>A) c.*928C>A (n.*928C>A) n.904C>A c.*207C>A (n.*207C>A) c.133C>A (p.Leu45Met) c.1049C>A n.1220C>A n.478C>A c.*888C>A (n.*888C>A) c.678-3090C>A (n.678-3090C>A) c.*1236C>A (n.*1236C>A) c.*974C>A (n.*974C>A) n.987C>A n.944C>A c.171C>A c.383C>A c.1071C>A c.283C>A c.889C>A (p.Leu297Met) c.73C>A (p.Leu25Met) c.22C>A (p.Leu8Met) c.997C>A (p.Leu333Met) | |
| 3 | g.37025694C>G | CA352052142 | MLH1 | c.1096C>G (p.Leu366Val) c.802C>G (p.Leu268Val) c.942C>G (p.Val314=) c.373C>G (p.Leu125Val) c.*14C>G (n.*14C>G) c.*928C>G (n.*928C>G) n.904C>G c.*207C>G (n.*207C>G) c.133C>G (p.Leu45Val) c.1049C>G n.1220C>G n.478C>G c.*888C>G (n.*888C>G) c.678-3090C>G (n.678-3090C>G) c.*1236C>G (n.*1236C>G) c.*974C>G (n.*974C>G) n.987C>G n.944C>G c.171C>G c.383C>G c.1071C>G c.283C>G c.889C>G (p.Leu297Val) c.73C>G (p.Leu25Val) c.22C>G (p.Leu8Val) c.997C>G (p.Leu333Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.37025694C>T | CA433321693 | MLH1 | c.1096C>T (p.Leu366=) c.802C>T (p.Leu268=) c.942C>T (p.Val314=) c.373C>T (p.Leu125=) c.*14C>T (n.*14C>T) c.*928C>T (n.*928C>T) n.904C>T c.*207C>T (n.*207C>T) c.133C>T (p.Leu45=) c.1049C>T n.1220C>T n.478C>T c.*888C>T (n.*888C>T) c.678-3090C>T (n.678-3090C>T) c.*1236C>T (n.*1236C>T) c.*974C>T (n.*974C>T) n.987C>T n.944C>T c.171C>T c.383C>T c.1071C>T c.283C>T c.889C>T (p.Leu297=) c.73C>T (p.Leu25=) c.22C>T (p.Leu8=) c.997C>T (p.Leu333=) | dbSNP |
| 3 | g.37025695T>A | CA352052149 | MLH1 | c.1097T>A (p.Leu366Gln) c.803T>A (p.Leu268Gln) c.943T>A (p.Ter315Arg) c.374T>A (p.Leu125Gln) c.*15T>A (n.*15T>A) c.*929T>A (n.*929T>A) n.905T>A c.*208T>A (n.*208T>A) c.134T>A (p.Leu45Gln) c.1050T>A n.1221T>A n.479T>A c.*889T>A (n.*889T>A) c.678-3089T>A (n.678-3089T>A) c.*1237T>A (n.*1237T>A) c.*975T>A (n.*975T>A) n.988T>A n.945T>A c.172T>A c.384T>A c.1072T>A c.284T>A c.890T>A (p.Leu297Gln) c.74T>A (p.Leu25Gln) c.23T>A (p.Leu8Gln) c.998T>A (p.Leu333Gln) | |
| 3 | g.37025695T>C | CA352052147 | MLH1 | c.1097T>C (p.Leu366Pro) c.803T>C (p.Leu268Pro) c.943T>C (p.Ter315Arg) c.374T>C (p.Leu125Pro) c.*15T>C (n.*15T>C) c.*929T>C (n.*929T>C) n.905T>C c.*208T>C (n.*208T>C) c.134T>C (p.Leu45Pro) c.1050T>C n.1221T>C n.479T>C c.*889T>C (n.*889T>C) c.678-3089T>C (n.678-3089T>C) c.*1237T>C (n.*1237T>C) c.*975T>C (n.*975T>C) n.988T>C n.945T>C c.172T>C c.384T>C c.1072T>C c.284T>C c.890T>C (p.Leu297Pro) c.74T>C (p.Leu25Pro) c.23T>C (p.Leu8Pro) c.998T>C (p.Leu333Pro) | gnomAD v4 |
| 3 | g.37025695T>G | CA352052151 | MLH1 | c.1097T>G (p.Leu366Arg) c.803T>G (p.Leu268Arg) c.943T>G (p.Ter315Gly) c.374T>G (p.Leu125Arg) c.*15T>G (n.*15T>G) c.*929T>G (n.*929T>G) n.905T>G c.*208T>G (n.*208T>G) c.134T>G (p.Leu45Arg) c.1050T>G n.1221T>G n.479T>G c.*889T>G (n.*889T>G) c.678-3089T>G (n.678-3089T>G) c.*1237T>G (n.*1237T>G) c.*975T>G (n.*975T>G) n.988T>G n.945T>G c.172T>G c.384T>G c.1072T>G c.284T>G c.890T>G (p.Leu297Arg) c.74T>G (p.Leu25Arg) c.23T>G (p.Leu8Arg) c.998T>G (p.Leu333Arg) | |
| 3 | g.37025696G>A | CA433321694 | MLH1 | c.1098G>A (p.Leu366=) c.804G>A (p.Leu268=) c.944G>A (p.Ter315=) c.375G>A (p.Leu125=) c.*16G>A (n.*16G>A) c.*930G>A (n.*930G>A) n.906G>A c.*209G>A (n.*209G>A) c.135G>A (p.Leu45=) c.1051G>A n.1222G>A n.480G>A c.*890G>A (n.*890G>A) c.678-3088G>A (n.678-3088G>A) c.*1238G>A (n.*1238G>A) c.*976G>A (n.*976G>A) n.989G>A n.946G>A c.173G>A c.385G>A c.1073G>A c.285G>A c.891G>A (p.Leu297=) c.75G>A (p.Leu25=) c.24G>A (p.Leu8=) c.999G>A (p.Leu333=) | ClinVar dbSNP |
| 3 | g.37025696G>C | CA433321695 | MLH1 | c.1098G>C (p.Leu366=) c.804G>C (p.Leu268=) c.944G>C (p.Ter315Ser) c.375G>C (p.Leu125=) c.*16G>C (n.*16G>C) c.*930G>C (n.*930G>C) n.906G>C c.*209G>C (n.*209G>C) c.135G>C (p.Leu45=) c.1051G>C n.1222G>C n.480G>C c.*890G>C (n.*890G>C) c.678-3088G>C (n.678-3088G>C) c.*1238G>C (n.*1238G>C) c.*976G>C (n.*976G>C) n.989G>C n.946G>C c.173G>C c.385G>C c.1073G>C c.285G>C c.891G>C (p.Leu297=) c.75G>C (p.Leu25=) c.24G>C (p.Leu8=) c.999G>C (p.Leu333=) | dbSNP |
| 3 | g.37025696G>T | CA433321696 | MLH1 | c.1098G>T (p.Leu366=) c.804G>T (p.Leu268=) c.944G>T (p.Ter315Leu) c.375G>T (p.Leu125=) c.*16G>T (n.*16G>T) c.*930G>T (n.*930G>T) n.906G>T c.*209G>T (n.*209G>T) c.135G>T (p.Leu45=) c.1051G>T n.1222G>T n.480G>T c.*890G>T (n.*890G>T) c.678-3088G>T (n.678-3088G>T) c.*1238G>T (n.*1238G>T) c.*976G>T (n.*976G>T) n.989G>T n.946G>T c.173G>T c.385G>T c.1073G>T c.285G>T c.891G>T (p.Leu297=) c.75G>T (p.Leu25=) c.24G>T (p.Leu8=) c.999G>T (p.Leu333=) | dbSNP |
| 3 | g.37025697A= | CA1357880281 | MLH1 | c.1099A= (p.Thr367=) c.805A= (p.Thr269=) c.945A= (p.Ter315=) c.376A= (p.Thr126=) c.*17A= (n.*17A=) c.*931A= (n.*931A=) n.907A= c.*210A= (n.*210A=) c.136A= (p.Thr46=) c.1052A= n.1223A= n.481A= c.*891A= (n.*891A=) c.678-3087A= (n.678-3087A=) c.*1239A= (n.*1239A=) c.*977A= (n.*977A=) n.990A= n.947A= c.174A= c.386A= c.1074A= c.286A= c.892A= (p.Thr298=) c.76A= (p.Thr26=) c.25A= (p.Thr9=) c.1000A= (p.Thr334=) | |
| 3 | g.37025697A>C | CA352052153 | MLH1 | c.1099A>C (p.Thr367Pro) c.805A>C (p.Thr269Pro) c.945A>C (p.Ter315Cys) c.376A>C (p.Thr126Pro) c.*17A>C (n.*17A>C) c.*931A>C (n.*931A>C) n.907A>C c.*210A>C (n.*210A>C) c.136A>C (p.Thr46Pro) c.1052A>C n.1223A>C n.481A>C c.*891A>C (n.*891A>C) c.678-3087A>C (n.678-3087A>C) c.*1239A>C (n.*1239A>C) c.*977A>C (n.*977A>C) n.990A>C n.947A>C c.174A>C c.386A>C c.1074A>C c.286A>C c.892A>C (p.Thr298Pro) c.76A>C (p.Thr26Pro) c.25A>C (p.Thr9Pro) c.1000A>C (p.Thr334Pro) | dbSNP |
| 3 | g.37025697A>G | CA352052154 | MLH1 | c.1099A>G (p.Thr367Ala) c.805A>G (p.Thr269Ala) c.945A>G (p.Ter315Trp) c.376A>G (p.Thr126Ala) c.*17A>G (n.*17A>G) c.*931A>G (n.*931A>G) n.907A>G c.*210A>G (n.*210A>G) c.136A>G (p.Thr46Ala) c.1052A>G n.1223A>G n.481A>G c.*891A>G (n.*891A>G) c.678-3087A>G (n.678-3087A>G) c.*1239A>G (n.*1239A>G) c.*977A>G (n.*977A>G) n.990A>G n.947A>G c.174A>G c.386A>G c.1074A>G c.286A>G c.892A>G (p.Thr298Ala) c.76A>G (p.Thr26Ala) c.25A>G (p.Thr9Ala) c.1000A>G (p.Thr334Ala) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.37025697A>T | CA352052156 | MLH1 | c.1099A>T (p.Thr367Ser) c.805A>T (p.Thr269Ser) c.945A>T (p.Ter315Cys) c.376A>T (p.Thr126Ser) c.*17A>T (n.*17A>T) c.*931A>T (n.*931A>T) n.907A>T c.*210A>T (n.*210A>T) c.136A>T (p.Thr46Ser) c.1052A>T n.1223A>T n.481A>T c.*891A>T (n.*891A>T) c.678-3087A>T (n.678-3087A>T) c.*1239A>T (n.*1239A>T) c.*977A>T (n.*977A>T) n.990A>T n.947A>T c.174A>T c.386A>T c.1074A>T c.286A>T c.892A>T (p.Thr298Ser) c.76A>T (p.Thr26Ser) c.25A>T (p.Thr9Ser) c.1000A>T (p.Thr334Ser) | dbSNP |
| 3 | g.37025697_37025698delinsAC | CA1357880280 | MLH1 | c.1099_1100delinsAC (p.Thr367=) c.805_806delinsAC (p.Thr269=) c.945_*1delinsAC (n.[c.945_*1delinsAC;Ter315=]) c.376_377delinsAC (p.Thr126=) c.*17_*18delinsAC (n.*17_*18delinsAC) c.*931_*932delinsAC (n.*931_*932delinsAC) n.907_908delinsAC c.*210_*211delinsAC (n.*210_*211delinsAC) c.136_137delinsAC (p.Thr46=) c.1052_1053delinsAC n.1223_1224delinsAC n.481_482delinsAC c.*891_*892delinsAC (n.*891_*892delinsAC) c.678-3087_678-3086delinsAC (n.678-3087_678-3086delinsAC) c.*1239_*1240delinsAC (n.*1239_*1240delinsAC) c.*977_*978delinsAC (n.*977_*978delinsAC) n.990_991delinsAC n.947_948delinsAC c.174_175delinsAC c.386_387delinsAC c.1074_1075delinsAC c.286_287delinsAC c.892_893delinsAC (p.Thr298=) c.76_77delinsAC (p.Thr26=) c.25_26delinsAC (p.Thr9=) c.1000_1001delinsAC (p.Thr334=) | |
| 3 | g.37025698C>A | CA027147 | MLH1 | c.1100C>A (p.Thr367Asn) c.806C>A (p.Thr269Asn) c.*1C>A (n.*1C>A) c.377C>A (p.Thr126Asn) c.*18C>A (n.*18C>A) c.*932C>A (n.*932C>A) n.908C>A c.*211C>A (n.*211C>A) c.137C>A (p.Thr46Asn) c.1053C>A n.1224C>A n.482C>A c.*892C>A (n.*892C>A) c.678-3086C>A (n.678-3086C>A) c.*1240C>A (n.*1240C>A) c.*978C>A (n.*978C>A) n.991C>A n.948C>A c.175C>A c.387C>A c.1075C>A c.287C>A c.893C>A (p.Thr298Asn) c.77C>A (p.Thr26Asn) c.26C>A (p.Thr9Asn) c.1001C>A (p.Thr334Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.37025698C= | CA1357880282 | MLH1 | c.1100C= (p.Thr367=) c.806C= (p.Thr269=) c.*1C= (n.*1C=) c.377C= (p.Thr126=) c.*18C= (n.*18C=) c.*932C= (n.*932C=) n.908C= c.*211C= (n.*211C=) c.137C= (p.Thr46=) c.1053C= n.1224C= n.482C= c.*892C= (n.*892C=) c.678-3086C= (n.678-3086C=) c.*1240C= (n.*1240C=) c.*978C= (n.*978C=) n.991C= n.948C= c.175C= c.387C= c.1075C= c.287C= c.893C= (p.Thr298=) c.77C= (p.Thr26=) c.26C= (p.Thr9=) c.1001C= (p.Thr334=) | |
| 3 | g.37025698C>G | CA352052159 | MLH1 | c.1100C>G (p.Thr367Ser) c.806C>G (p.Thr269Ser) c.*1C>G (n.*1C>G) c.377C>G (p.Thr126Ser) c.*18C>G (n.*18C>G) c.*932C>G (n.*932C>G) n.908C>G c.*211C>G (n.*211C>G) c.137C>G (p.Thr46Ser) c.1053C>G n.1224C>G n.482C>G c.*892C>G (n.*892C>G) c.678-3086C>G (n.678-3086C>G) c.*1240C>G (n.*1240C>G) c.*978C>G (n.*978C>G) n.991C>G n.948C>G c.175C>G c.387C>G c.1075C>G c.287C>G c.893C>G (p.Thr298Ser) c.77C>G (p.Thr26Ser) c.26C>G (p.Thr9Ser) c.1001C>G (p.Thr334Ser) | dbSNP |
| 3 | g.37025698C>T | CA72796026 | MLH1 | c.1100C>T (p.Thr367Ile) c.806C>T (p.Thr269Ile) c.*1C>T (n.*1C>T) c.377C>T (p.Thr126Ile) c.*18C>T (n.*18C>T) c.*932C>T (n.*932C>T) n.908C>T c.*211C>T (n.*211C>T) c.137C>T (p.Thr46Ile) c.1053C>T n.1224C>T n.482C>T c.*892C>T (n.*892C>T) c.678-3086C>T (n.678-3086C>T) c.*1240C>T (n.*1240C>T) c.*978C>T (n.*978C>T) n.991C>T n.948C>T c.175C>T c.387C>T c.1075C>T c.287C>T c.893C>T (p.Thr298Ile) c.77C>T (p.Thr26Ile) c.26C>T (p.Thr9Ile) c.1001C>T (p.Thr334Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.37025699del | CA004346 | MLH1 | c.1101del (p.Ser368ArgfsTer?) c.807del (p.Ser270ArgfsTer?) c.*2del (n.*2del) c.378del (p.Ser127ArgfsTer?) c.*19del (n.*19del) c.*933del (n.*933del) n.909del c.*212del (n.*212del) c.138del (p.Ser47ArgfsTer?) c.1054del n.1225del n.483del c.*893del (n.*893del) c.678-3085del (n.678-3085del) c.*1241del (n.*1241del) c.*979del (n.*979del) n.992del n.949del c.176del c.388del c.1076del c.288del c.894del (p.Ser299ArgfsTer?) c.78del (p.Ser27ArgfsTer?) c.27del (p.Ser10ArgfsTer?) c.1002del (p.Ser335ArgfsTer?) | ClinVar dbSNP |