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.37050617_37050629delinsCCTGCCTGATCTA | CA1357891824 | MLH1 | c.1799_1811delinsCCTGCCTGATCTA (p.Thr600=) c.1941_1953delinsCCTGCCTGATCTA (p.Asn647=) c.2028_2040delinsCCTGCCTGATCTA (p.Asn676=) c.1512_1524delinsCCTGCCTGATCTA (p.Asn504=) c.2142_2154delinsCCTGCCTGATCTA (p.Asn714=) c.2070_2082delinsCCTGCCTGATCTA (p.Asn690=) c.2235_2247delinsCCTGCCTGATCTA (p.Asn745=) c.*1153_*1165delinsCCTGCCTGATCTA (n.*1153_*1165delinsCCTGCCTGATCTA) c.*2067_*2079delinsCCTGCCTGATCTA (n.*2067_*2079delinsCCTGCCTGATCTA) c.*1346_*1358delinsCCTGCCTGATCTA (n.*1346_*1358delinsCCTGCCTGATCTA) c.1179_1191delinsCCTGCCTGATCTA (p.Asn393=) c.2023_2035delinsCCTGCCTGATCTA n.1269_1281delinsCCTGCCTGATCTA n.1617_1629delinsCCTGCCTGATCTA c.*2027_*2039delinsCCTGCCTGATCTA (n.*2027_*2039delinsCCTGCCTGATCTA) c.1503_1515delinsCCTGCCTGATCTA (p.Asn501=) c.*2375_*2387delinsCCTGCCTGATCTA (n.*2375_*2387delinsCCTGCCTGATCTA) c.*2113_*2125delinsCCTGCCTGATCTA (n.*2113_*2125delinsCCTGCCTGATCTA) c.*464_*476delinsCCTGCCTGATCTA (n.*464_*476delinsCCTGCCTGATCTA) n.946_958delinsCCTGCCTGATCTA c.2003_2015delinsCCTGCCTGATCTA c.1212_1224delinsCCTGCCTGATCTA (p.Asn404=) c.1161_1173delinsCCTGCCTGATCTA (p.Asn387=) c.2136_2148delinsCCTGCCTGATCTA (p.Asn712=) | |
| 3 | g.37050618_37050629del | CA915942329 | MLH1 | c.1800_1811del (p.Cys601_Tyr604del) c.1942_1953del (p.Leu648_Leu651del) c.2029_2040del (p.Leu677_Leu680del) c.1513_1524del (p.Leu505_Leu508del) c.2143_2154del (p.Leu715_Leu718del) c.2071_2082del (p.Leu691_Leu694del) c.2236_2247del (p.Leu746_Leu749del) c.*1154_*1165del (n.*1154_*1165del) c.*2068_*2079del (n.*2068_*2079del) c.*1347_*1358del (n.*1347_*1358del) c.1180_1191del (p.Leu394_Leu397del) c.2024_2035del n.1270_1281del n.1618_1629del c.*2028_*2039del (n.*2028_*2039del) c.1504_1515del (p.Leu502_Leu505del) c.*2376_*2387del (n.*2376_*2387del) c.*2114_*2125del (n.*2114_*2125del) c.*465_*476del (n.*465_*476del) n.947_958del c.2004_2015del c.1213_1224del (p.Leu405_Leu408del) c.1162_1173del (p.Leu388_Leu391del) c.2137_2148del (p.Leu713_Leu716del) | ClinVar dbSNP |
| 3 | g.37050627_37050628del | CA2697550784 | MLH1 | c.1809_1810del (p.Thr605LysfsTer7) c.1951_1952del (p.Leu651IlefsTer5) c.2038_2039del (p.Leu680IlefsTer5) c.1522_1523del (p.Leu508IlefsTer5) c.2152_2153del (p.Leu718IlefsTer5) c.2080_2081del (p.Leu694IlefsTer5) c.2245_2246del (p.Leu749IlefsTer5) c.*1163_*1164del (n.*1163_*1164del) c.*2077_*2078del (n.*2077_*2078del) c.*1356_*1357del (n.*1356_*1357del) c.1189_1190del (p.Leu397IlefsTer5) c.2033_2034del n.1279_1280del n.1627_1628del c.*2037_*2038del (n.*2037_*2038del) c.1513_1514del (p.Leu505IlefsTer5) c.*2385_*2386del (n.*2385_*2386del) c.*2123_*2124del (n.*2123_*2124del) c.*474_*475del (n.*474_*475del) n.956_957del c.2013_2014del c.1222_1223del (p.Leu408IlefsTer5) c.1171_1172del (p.Leu391IlefsTer5) c.2146_2147del (p.Leu716IlefsTer5) | ClinVar |
| 3 | g.37050626_37050631delinsG | CA2580069603 | MLH1 | c.1808_1813delinsG (p.Ile603SerfsTer8) c.1950_1955delinsG (p.Asp650GlufsTer5) c.2037_2042delinsG (p.Asp679GlufsTer5) c.1521_1526delinsG (p.Asp507GlufsTer5) c.2151_2156delinsG (p.Asp717GlufsTer5) c.2079_2084delinsG (p.Asp693GlufsTer5) c.2244_2249delinsG (p.Asp748GlufsTer5) c.*1162_*1167delinsG (n.*1162_*1167delinsG) c.*2076_*2081delinsG (n.*2076_*2081delinsG) c.*1355_*1360delinsG (n.*1355_*1360delinsG) c.1188_1193delinsG (p.Asp396GlufsTer5) c.2032_2037delinsG n.1278_1283delinsG n.1626_1631delinsG c.*2036_*2041delinsG (n.*2036_*2041delinsG) c.1512_1517delinsG (p.Asp504GlufsTer5) c.*2384_*2389delinsG (n.*2384_*2389delinsG) c.*2122_*2127delinsG (n.*2122_*2127delinsG) c.*473_*478delinsG (n.*473_*478delinsG) n.955_960delinsG c.2012_2017delinsG c.1221_1226delinsG (p.Asp407GlufsTer5) c.1170_1175delinsG (p.Asp390GlufsTer5) c.2145_2150delinsG (p.Asp715GlufsTer5) | ClinVar |
| 3 | g.37050627_37050629delinsCTA | CA1357891831 | MLH1 | c.1809_1811delinsCTA (p.Ile603=) c.1951_1953delinsCTA (p.Leu651=) c.2038_2040delinsCTA (p.Leu680=) c.1522_1524delinsCTA (p.Leu508=) c.2152_2154delinsCTA (p.Leu718=) c.2080_2082delinsCTA (p.Leu694=) c.2245_2247delinsCTA (p.Leu749=) c.*1163_*1165delinsCTA (n.*1163_*1165delinsCTA) c.*2077_*2079delinsCTA (n.*2077_*2079delinsCTA) c.*1356_*1358delinsCTA (n.*1356_*1358delinsCTA) c.1189_1191delinsCTA (p.Leu397=) c.2033_2035delinsCTA n.1279_1281delinsCTA n.1627_1629delinsCTA c.*2037_*2039delinsCTA (n.*2037_*2039delinsCTA) c.1513_1515delinsCTA (p.Leu505=) c.*2385_*2387delinsCTA (n.*2385_*2387delinsCTA) c.*2123_*2125delinsCTA (n.*2123_*2125delinsCTA) c.*474_*476delinsCTA (n.*474_*476delinsCTA) n.956_958delinsCTA c.2013_2015delinsCTA c.1222_1224delinsCTA (p.Leu408=) c.1171_1173delinsCTA (p.Leu391=) c.2146_2148delinsCTA (p.Leu716=) | |
| 3 | g.37050628T>A | CA72813756 | MLH1 | c.1810T>A (p.Tyr604Asn) c.1952T>A (p.Leu651Gln) c.2039T>A (p.Leu680Gln) c.1523T>A (p.Leu508Gln) c.2153T>A (p.Leu718Gln) c.2081T>A (p.Leu694Gln) c.2246T>A (p.Leu749Gln) c.*1164T>A (n.*1164T>A) c.*2078T>A (n.*2078T>A) c.*1357T>A (n.*1357T>A) c.1190T>A (p.Leu397Gln) c.2034T>A n.1280T>A n.1628T>A c.*2038T>A (n.*2038T>A) c.1514T>A (p.Leu505Gln) c.*2386T>A (n.*2386T>A) c.*2124T>A (n.*2124T>A) c.*475T>A (n.*475T>A) n.957T>A c.2014T>A c.1223T>A (p.Leu408Gln) c.1172T>A (p.Leu391Gln) c.2147T>A (p.Leu716Gln) | dbSNP |
| 3 | g.37050628T>C | CA009197 | MLH1 | c.1810T>C (p.Tyr604His) c.1952T>C (p.Leu651Pro) c.2039T>C (p.Leu680Pro) c.1523T>C (p.Leu508Pro) c.2153T>C (p.Leu718Pro) c.2081T>C (p.Leu694Pro) c.2246T>C (p.Leu749Pro) c.*1164T>C (n.*1164T>C) c.*2078T>C (n.*2078T>C) c.*1357T>C (n.*1357T>C) c.1190T>C (p.Leu397Pro) c.2034T>C n.1280T>C n.1628T>C c.*2038T>C (n.*2038T>C) c.1514T>C (p.Leu505Pro) c.*2386T>C (n.*2386T>C) c.*2124T>C (n.*2124T>C) c.*475T>C (n.*475T>C) n.957T>C c.2014T>C c.1223T>C (p.Leu408Pro) c.1172T>C (p.Leu391Pro) c.2147T>C (p.Leu716Pro) | ClinVar dbSNP |
| 3 | g.37050628T>G | CA352069777 | MLH1 | c.1810T>G (p.Tyr604Asp) c.1952T>G (p.Leu651Arg) c.2039T>G (p.Leu680Arg) c.1523T>G (p.Leu508Arg) c.2153T>G (p.Leu718Arg) c.2081T>G (p.Leu694Arg) c.2246T>G (p.Leu749Arg) c.*1164T>G (n.*1164T>G) c.*2078T>G (n.*2078T>G) c.*1357T>G (n.*1357T>G) c.1190T>G (p.Leu397Arg) c.2034T>G n.1280T>G n.1628T>G c.*2038T>G (n.*2038T>G) c.1514T>G (p.Leu505Arg) c.*2386T>G (n.*2386T>G) c.*2124T>G (n.*2124T>G) c.*475T>G (n.*475T>G) n.957T>G c.2014T>G c.1223T>G (p.Leu408Arg) c.1172T>G (p.Leu391Arg) c.2147T>G (p.Leu716Arg) | ClinVar |
| 3 | g.37050628T= | CA1357891832 | MLH1 | c.1810T= (p.Tyr604=) c.1952T= (p.Leu651=) c.2039T= (p.Leu680=) c.1523T= (p.Leu508=) c.2153T= (p.Leu718=) c.2081T= (p.Leu694=) c.2246T= (p.Leu749=) c.*1164T= (n.*1164T=) c.*2078T= (n.*2078T=) c.*1357T= (n.*1357T=) c.1190T= (p.Leu397=) c.2034T= n.1280T= n.1628T= c.*2038T= (n.*2038T=) c.1514T= (p.Leu505=) c.*2386T= (n.*2386T=) c.*2124T= (n.*2124T=) c.*475T= (n.*475T=) n.957T= c.2014T= c.1223T= (p.Leu408=) c.1172T= (p.Leu391=) c.2147T= (p.Leu716=) | |
| 3 | g.37050630_37050631del | CA009208 | MLH1 | c.1812_1813del (p.Thr605LysfsTer7) c.1954_1955del (p.Tyr652GlnfsTer4) c.2041_2042del (p.Tyr681GlnfsTer4) c.1525_1526del (p.Tyr509GlnfsTer4) c.2155_2156del (p.Tyr719GlnfsTer4) c.2083_2084del (p.Tyr695GlnfsTer4) c.2248_2249del (p.Tyr750GlnfsTer4) c.*1166_*1167del (n.*1166_*1167del) c.*2080_*2081del (n.*2080_*2081del) c.*1359_*1360del (n.*1359_*1360del) c.1192_1193del (p.Tyr398GlnfsTer4) c.2036_2037del n.1282_1283del n.1630_1631del c.*2040_*2041del (n.*2040_*2041del) c.1516_1517del (p.Tyr506GlnfsTer4) c.*2388_*2389del (n.*2388_*2389del) c.*2126_*2127del (n.*2126_*2127del) c.*477_*478del (n.*477_*478del) n.959_960del c.2016_2017del c.1225_1226del (p.Tyr409GlnfsTer4) c.1174_1175del (p.Tyr392GlnfsTer4) c.2149_2150del (p.Tyr717GlnfsTer4) | ClinVar dbSNP |
| 3 | g.37050628_37050811dup | CA198856 | MLH1 | c.1810_*158dup (n.1810_*158dup) c.1952_*158dup (n.1952_*158dup) c.2039_*158dup (n.2039_*158dup) c.1523_*158dup (n.1523_*158dup) c.2153_*158dup (n.2153_*158dup) c.2246_*158dup (n.2246_*158dup) c.*1164_*1347dup (n.*1164_*1347dup) c.*2078_*2261dup (n.*2078_*2261dup) c.1190_1373dup (n.1190_1373dup) n.1280_1463dup c.*2386_*2569dup (n.*2386_*2569dup) c.*2124_*2307dup (n.*2124_*2307dup) n.957_1140dup c.2014_2197dup c.1223_*158dup (n.1223_*158dup) c.1172_*158dup (n.1172_*158dup) c.2147_*158dup (n.2147_*158dup) c.2081_*158dup (n.2081_*158dup) | |
| 3 | g.37050629A= | CA1357891833 | MLH1 | c.1811A= (p.Tyr604=) c.1953A= (p.Leu651=) c.2040A= (p.Leu680=) c.1524A= (p.Leu508=) c.2154A= (p.Leu718=) c.2082A= (p.Leu694=) c.2247A= (p.Leu749=) c.*1165A= (n.*1165A=) c.*2079A= (n.*2079A=) c.*1358A= (n.*1358A=) c.1191A= (p.Leu397=) c.2035A= n.1281A= n.1629A= c.*2039A= (n.*2039A=) c.1515A= (p.Leu505=) c.*2387A= (n.*2387A=) c.*2125A= (n.*2125A=) c.*476A= (n.*476A=) n.958A= c.2015A= c.1224A= (p.Leu408=) c.1173A= (p.Leu391=) c.2148A= (p.Leu716=) | |
| 3 | g.37050629A>C | CA009203 | MLH1 | c.1811A>C (p.Tyr604Ser) c.1953A>C (p.Leu651=) c.2040A>C (p.Leu680=) c.1524A>C (p.Leu508=) c.2154A>C (p.Leu718=) c.2082A>C (p.Leu694=) c.2247A>C (p.Leu749=) c.*1165A>C (n.*1165A>C) c.*2079A>C (n.*2079A>C) c.*1358A>C (n.*1358A>C) c.1191A>C (p.Leu397=) c.2035A>C n.1281A>C n.1629A>C c.*2039A>C (n.*2039A>C) c.1515A>C (p.Leu505=) c.*2387A>C (n.*2387A>C) c.*2125A>C (n.*2125A>C) c.*476A>C (n.*476A>C) n.958A>C c.2015A>C c.1224A>C (p.Leu408=) c.1173A>C (p.Leu391=) c.2148A>C (p.Leu716=) | ClinVar dbSNP |
| 3 | g.37050629A>G | CA433087028 | MLH1 | c.1811A>G (p.Tyr604Cys) c.1953A>G (p.Leu651=) c.2040A>G (p.Leu680=) c.1524A>G (p.Leu508=) c.2154A>G (p.Leu718=) c.2082A>G (p.Leu694=) c.2247A>G (p.Leu749=) c.*1165A>G (n.*1165A>G) c.*2079A>G (n.*2079A>G) c.*1358A>G (n.*1358A>G) c.1191A>G (p.Leu397=) c.2035A>G n.1281A>G n.1629A>G c.*2039A>G (n.*2039A>G) c.1515A>G (p.Leu505=) c.*2387A>G (n.*2387A>G) c.*2125A>G (n.*2125A>G) c.*476A>G (n.*476A>G) n.958A>G c.2015A>G c.1224A>G (p.Leu408=) c.1173A>G (p.Leu391=) c.2148A>G (p.Leu716=) | ClinVar dbSNP |
| 3 | g.37050629A>T | CA433087026 | MLH1 | c.1811A>T (p.Tyr604Phe) c.1953A>T (p.Leu651=) c.2040A>T (p.Leu680=) c.1524A>T (p.Leu508=) c.2154A>T (p.Leu718=) c.2082A>T (p.Leu694=) c.2247A>T (p.Leu749=) c.*1165A>T (n.*1165A>T) c.*2079A>T (n.*2079A>T) c.*1358A>T (n.*1358A>T) c.1191A>T (p.Leu397=) c.2035A>T n.1281A>T n.1629A>T c.*2039A>T (n.*2039A>T) c.1515A>T (p.Leu505=) c.*2387A>T (n.*2387A>T) c.*2125A>T (n.*2125A>T) c.*476A>T (n.*476A>T) n.958A>T c.2015A>T c.1224A>T (p.Leu408=) c.1173A>T (p.Leu391=) c.2148A>T (p.Leu716=) | dbSNP gnomAD v4 |
| 3 | g.37050630T>A | CA352069782 | MLH1 | c.1812T>A (p.Tyr604Ter) c.1954T>A (p.Tyr652Asn) c.2041T>A (p.Tyr681Asn) c.1525T>A (p.Tyr509Asn) c.2155T>A (p.Tyr719Asn) c.2083T>A (p.Tyr695Asn) c.2248T>A (p.Tyr750Asn) c.*1166T>A (n.*1166T>A) c.*2080T>A (n.*2080T>A) c.*1359T>A (n.*1359T>A) c.1192T>A (p.Tyr398Asn) c.2036T>A n.1282T>A n.1630T>A c.*2040T>A (n.*2040T>A) c.1516T>A (p.Tyr506Asn) c.*2388T>A (n.*2388T>A) c.*2126T>A (n.*2126T>A) c.*477T>A (n.*477T>A) n.959T>A c.2016T>A c.1225T>A (p.Tyr409Asn) c.1174T>A (p.Tyr392Asn) c.2149T>A (p.Tyr717Asn) | dbSNP |
| 3 | g.37050630T>C | CA033998 | MLH1 | c.1812T>C (p.Tyr604=) c.1954T>C (p.Tyr652His) c.2041T>C (p.Tyr681His) c.1525T>C (p.Tyr509His) c.2155T>C (p.Tyr719His) c.2083T>C (p.Tyr695His) c.2248T>C (p.Tyr750His) c.*1166T>C (n.*1166T>C) c.*2080T>C (n.*2080T>C) c.*1359T>C (n.*1359T>C) c.1192T>C (p.Tyr398His) c.2036T>C n.1282T>C n.1630T>C c.*2040T>C (n.*2040T>C) c.1516T>C (p.Tyr506His) c.*2388T>C (n.*2388T>C) c.*2126T>C (n.*2126T>C) c.*477T>C (n.*477T>C) n.959T>C c.2016T>C c.1225T>C (p.Tyr409His) c.1174T>C (p.Tyr392His) c.2149T>C (p.Tyr717His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.37050630T>G | CA352069785 | MLH1 | c.1812T>G (p.Tyr604Ter) c.1954T>G (p.Tyr652Asp) c.2041T>G (p.Tyr681Asp) c.1525T>G (p.Tyr509Asp) c.2155T>G (p.Tyr719Asp) c.2083T>G (p.Tyr695Asp) c.2248T>G (p.Tyr750Asp) c.*1166T>G (n.*1166T>G) c.*2080T>G (n.*2080T>G) c.*1359T>G (n.*1359T>G) c.1192T>G (p.Tyr398Asp) c.2036T>G n.1282T>G n.1630T>G c.*2040T>G (n.*2040T>G) c.1516T>G (p.Tyr506Asp) c.*2388T>G (n.*2388T>G) c.*2126T>G (n.*2126T>G) c.*477T>G (n.*477T>G) n.959T>G c.2016T>G c.1225T>G (p.Tyr409Asp) c.1174T>G (p.Tyr392Asp) c.2149T>G (p.Tyr717Asp) | |
| 3 | g.37050630T= | CA1357891834 | MLH1 | c.1812T= (p.Tyr604=) c.1954T= (p.Tyr652=) c.2041T= (p.Tyr681=) c.1525T= (p.Tyr509=) c.2155T= (p.Tyr719=) c.2083T= (p.Tyr695=) c.2248T= (p.Tyr750=) c.*1166T= (n.*1166T=) c.*2080T= (n.*2080T=) c.*1359T= (n.*1359T=) c.1192T= (p.Tyr398=) c.2036T= n.1282T= n.1630T= c.*2040T= (n.*2040T=) c.1516T= (p.Tyr506=) c.*2388T= (n.*2388T=) c.*2126T= (n.*2126T=) c.*477T= (n.*477T=) n.959T= c.2016T= c.1225T= (p.Tyr409=) c.1174T= (p.Tyr392=) c.2149T= (p.Tyr717=) | |
| 3 | g.37050631A= | CA1357891835 | MLH1 | c.1813A= (p.Thr605=) c.1955A= (p.Tyr652=) c.2042A= (p.Tyr681=) c.1526A= (p.Tyr509=) c.2156A= (p.Tyr719=) c.2084A= (p.Tyr695=) c.2249A= (p.Tyr750=) c.*1167A= (n.*1167A=) c.*2081A= (n.*2081A=) c.*1360A= (n.*1360A=) c.1193A= (p.Tyr398=) c.2037A= n.1283A= n.1631A= c.*2041A= (n.*2041A=) c.1517A= (p.Tyr506=) c.*2389A= (n.*2389A=) c.*2127A= (n.*2127A=) c.*478A= (n.*478A=) n.960A= c.2017A= c.1226A= (p.Tyr409=) c.1175A= (p.Tyr392=) c.2150A= (p.Tyr717=) | |
| 3 | g.37050631A>C | CA352069787 | MLH1 | c.1813A>C (p.Thr605Pro) c.1955A>C (p.Tyr652Ser) c.2042A>C (p.Tyr681Ser) c.1526A>C (p.Tyr509Ser) c.2156A>C (p.Tyr719Ser) c.2084A>C (p.Tyr695Ser) c.2249A>C (p.Tyr750Ser) c.*1167A>C (n.*1167A>C) c.*2081A>C (n.*2081A>C) c.*1360A>C (n.*1360A>C) c.1193A>C (p.Tyr398Ser) c.2037A>C n.1283A>C n.1631A>C c.*2041A>C (n.*2041A>C) c.1517A>C (p.Tyr506Ser) c.*2389A>C (n.*2389A>C) c.*2127A>C (n.*2127A>C) c.*478A>C (n.*478A>C) n.960A>C c.2017A>C c.1226A>C (p.Tyr409Ser) c.1175A>C (p.Tyr392Ser) c.2150A>C (p.Tyr717Ser) | ClinVar |
| 3 | g.37050631A>G | CA352069789 | MLH1 | c.1813A>G (p.Thr605Ala) c.1955A>G (p.Tyr652Cys) c.2042A>G (p.Tyr681Cys) c.1526A>G (p.Tyr509Cys) c.2156A>G (p.Tyr719Cys) c.2084A>G (p.Tyr695Cys) c.2249A>G (p.Tyr750Cys) c.*1167A>G (n.*1167A>G) c.*2081A>G (n.*2081A>G) c.*1360A>G (n.*1360A>G) c.1193A>G (p.Tyr398Cys) c.2037A>G n.1283A>G n.1631A>G c.*2041A>G (n.*2041A>G) c.1517A>G (p.Tyr506Cys) c.*2389A>G (n.*2389A>G) c.*2127A>G (n.*2127A>G) c.*478A>G (n.*478A>G) n.960A>G c.2017A>G c.1226A>G (p.Tyr409Cys) c.1175A>G (p.Tyr392Cys) c.2150A>G (p.Tyr717Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.37050631A>T | CA352069792 | MLH1 | c.1813A>T (p.Thr605Ser) c.1955A>T (p.Tyr652Phe) c.2042A>T (p.Tyr681Phe) c.1526A>T (p.Tyr509Phe) c.2156A>T (p.Tyr719Phe) c.2084A>T (p.Tyr695Phe) c.2249A>T (p.Tyr750Phe) c.*1167A>T (n.*1167A>T) c.*2081A>T (n.*2081A>T) c.*1360A>T (n.*1360A>T) c.1193A>T (p.Tyr398Phe) c.2037A>T n.1283A>T n.1631A>T c.*2041A>T (n.*2041A>T) c.1517A>T (p.Tyr506Phe) c.*2389A>T (n.*2389A>T) c.*2127A>T (n.*2127A>T) c.*478A>T (n.*478A>T) n.960A>T c.2017A>T c.1226A>T (p.Tyr409Phe) c.1175A>T (p.Tyr392Phe) c.2150A>T (p.Tyr717Phe) | dbSNP |
| 3 | g.37050631dup | CA10582185 | MLH1 | c.1813dup (p.Thr605AsnfsTer8) c.1955dup (p.Tyr652Ter) c.2042dup (p.Tyr681Ter) c.1526dup (p.Tyr509Ter) c.2156dup (p.Tyr719Ter) c.2084dup (p.Tyr695Ter) c.2249dup (p.Tyr750Ter) c.*1167dup (n.*1167dup) c.*2081dup (n.*2081dup) c.*1360dup (n.*1360dup) c.1193dup (p.Tyr398Ter) c.2037dup n.1283dup n.1631dup c.*2041dup (n.*2041dup) c.1517dup (p.Tyr506Ter) c.*2389dup (n.*2389dup) c.*2127dup (n.*2127dup) c.*478dup (n.*478dup) n.960dup c.2017dup c.1226dup (p.Tyr409Ter) c.1175dup (p.Tyr392Ter) c.2150dup (p.Tyr717Ter) | ClinVar dbSNP |
| 3 | g.37050632_37050633del | CA913189194 | MLH1 | c.1814_1815del (p.Thr605LysfsTer7) c.1956_1957del (p.Tyr652Ter) c.2043_2044del (p.Tyr681Ter) c.1527_1528del (p.Tyr509Ter) c.2157_2158del (p.Tyr719Ter) c.2085_2086del (p.Tyr695Ter) c.2250_2251del (p.Tyr750Ter) c.*1168_*1169del (n.*1168_*1169del) c.*2082_*2083del (n.*2082_*2083del) c.*1361_*1362del (n.*1361_*1362del) c.1194_1195del (p.Tyr398Ter) c.2038_2039del n.1284_1285del n.1632_1633del c.*2042_*2043del (n.*2042_*2043del) c.1518_1519del (p.Tyr506Ter) c.*2390_*2391del (n.*2390_*2391del) c.*2128_*2129del (n.*2128_*2129del) c.*479_*480del (n.*479_*480del) n.961_962del c.2018_2019del c.1227_1228del (p.Tyr409Ter) c.1176_1177del (p.Tyr392Ter) c.2151_2152del (p.Tyr717Ter) | ClinVar |
| 3 | g.37050631_37050637delinsACAAAGT | CA1357891836 | MLH1 | c.1813_1819delinsACAAAGT (p.Thr605=) c.1955_1961delinsACAAAGT (p.Tyr652=) c.2042_2048delinsACAAAGT (p.Tyr681=) c.1526_1532delinsACAAAGT (p.Tyr509=) c.2156_2162delinsACAAAGT (p.Tyr719=) c.2084_2090delinsACAAAGT (p.Tyr695=) c.2249_2255delinsACAAAGT (p.Tyr750=) c.*1167_*1173delinsACAAAGT (n.*1167_*1173delinsACAAAGT) c.*2081_*2087delinsACAAAGT (n.*2081_*2087delinsACAAAGT) c.*1360_*1366delinsACAAAGT (n.*1360_*1366delinsACAAAGT) c.1193_1199delinsACAAAGT (p.Tyr398=) c.2037_2043delinsACAAAGT n.1283_1289delinsACAAAGT n.1631_1637delinsACAAAGT c.*2041_*2047delinsACAAAGT (n.*2041_*2047delinsACAAAGT) c.1517_1523delinsACAAAGT (p.Tyr506=) c.*2389_*2395delinsACAAAGT (n.*2389_*2395delinsACAAAGT) c.*2127_*2133delinsACAAAGT (n.*2127_*2133delinsACAAAGT) c.*478_*484delinsACAAAGT (n.*478_*484delinsACAAAGT) n.960_966delinsACAAAGT c.2017_2023delinsACAAAGT c.1226_1232delinsACAAAGT (p.Tyr409=) c.1175_1181delinsACAAAGT (p.Tyr392=) c.2150_2156delinsACAAAGT (p.Tyr717=) | |
| 3 | g.37050632C>A | CA009215 | MLH1 | c.1814C>A (p.Thr605Lys) c.1956C>A (p.Tyr652Ter) c.2043C>A (p.Tyr681Ter) c.1527C>A (p.Tyr509Ter) c.2157C>A (p.Tyr719Ter) c.2085C>A (p.Tyr695Ter) c.2250C>A (p.Tyr750Ter) c.*1168C>A (n.*1168C>A) c.*2082C>A (n.*2082C>A) c.*1361C>A (n.*1361C>A) c.1194C>A (p.Tyr398Ter) c.2038C>A n.1284C>A n.1632C>A c.*2042C>A (n.*2042C>A) c.1518C>A (p.Tyr506Ter) c.*2390C>A (n.*2390C>A) c.*2128C>A (n.*2128C>A) c.*479C>A (n.*479C>A) n.961C>A c.2018C>A c.1227C>A (p.Tyr409Ter) c.1176C>A (p.Tyr392Ter) c.2151C>A (p.Tyr717Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.37050632C= | CA1357891838 | MLH1 | c.1814C= (p.Thr605=) c.1956C= (p.Tyr652=) c.2043C= (p.Tyr681=) c.1527C= (p.Tyr509=) c.2157C= (p.Tyr719=) c.2085C= (p.Tyr695=) c.2250C= (p.Tyr750=) c.*1168C= (n.*1168C=) c.*2082C= (n.*2082C=) c.*1361C= (n.*1361C=) c.1194C= (p.Tyr398=) c.2038C= n.1284C= n.1632C= c.*2042C= (n.*2042C=) c.1518C= (p.Tyr506=) c.*2390C= (n.*2390C=) c.*2128C= (n.*2128C=) c.*479C= (n.*479C=) n.961C= c.2018C= c.1227C= (p.Tyr409=) c.1176C= (p.Tyr392=) c.2151C= (p.Tyr717=) | |
| 3 | g.37050632C>G | CA009222 | MLH1 | c.1814C>G (p.Thr605Arg) c.1956C>G (p.Tyr652Ter) c.2043C>G (p.Tyr681Ter) c.1527C>G (p.Tyr509Ter) c.2157C>G (p.Tyr719Ter) c.2085C>G (p.Tyr695Ter) c.2250C>G (p.Tyr750Ter) c.*1168C>G (n.*1168C>G) c.*2082C>G (n.*2082C>G) c.*1361C>G (n.*1361C>G) c.1194C>G (p.Tyr398Ter) c.2038C>G n.1284C>G n.1632C>G c.*2042C>G (n.*2042C>G) c.1518C>G (p.Tyr506Ter) c.*2390C>G (n.*2390C>G) c.*2128C>G (n.*2128C>G) c.*479C>G (n.*479C>G) n.961C>G c.2018C>G c.1227C>G (p.Tyr409Ter) c.1176C>G (p.Tyr392Ter) c.2151C>G (p.Tyr717Ter) | ClinVar dbSNP |
| 3 | g.37050632C>T | CA72813804 | MLH1 | c.1814C>T (p.Thr605Ile) c.1956C>T (p.Tyr652=) c.2043C>T (p.Tyr681=) c.1527C>T (p.Tyr509=) c.2157C>T (p.Tyr719=) c.2085C>T (p.Tyr695=) c.2250C>T (p.Tyr750=) c.*1168C>T (n.*1168C>T) c.*2082C>T (n.*2082C>T) c.*1361C>T (n.*1361C>T) c.1194C>T (p.Tyr398=) c.2038C>T n.1284C>T n.1632C>T c.*2042C>T (n.*2042C>T) c.1518C>T (p.Tyr506=) c.*2390C>T (n.*2390C>T) c.*2128C>T (n.*2128C>T) c.*479C>T (n.*479C>T) n.961C>T c.2018C>T c.1227C>T (p.Tyr409=) c.1176C>T (p.Tyr392=) c.2151C>T (p.Tyr717=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.37050632_37050634delinsCAA | CA1357891837 | MLH1 | c.1814_1816delinsCAA (p.Thr605=) c.1956_1958delinsCAA (p.Tyr652=) c.2043_2045delinsCAA (p.Tyr681=) c.1527_1529delinsCAA (p.Tyr509=) c.2157_2159delinsCAA (p.Tyr719=) c.2085_2087delinsCAA (p.Tyr695=) c.2250_2252delinsCAA (p.Tyr750=) c.*1168_*1170delinsCAA (n.*1168_*1170delinsCAA) c.*2082_*2084delinsCAA (n.*2082_*2084delinsCAA) c.*1361_*1363delinsCAA (n.*1361_*1363delinsCAA) c.1194_1196delinsCAA (p.Tyr398=) c.2038_2040delinsCAA n.1284_1286delinsCAA n.1632_1634delinsCAA c.*2042_*2044delinsCAA (n.*2042_*2044delinsCAA) c.1518_1520delinsCAA (p.Tyr506=) c.*2390_*2392delinsCAA (n.*2390_*2392delinsCAA) c.*2128_*2130delinsCAA (n.*2128_*2130delinsCAA) c.*479_*481delinsCAA (n.*479_*481delinsCAA) n.961_963delinsCAA c.2018_2020delinsCAA c.1227_1229delinsCAA (p.Tyr409=) c.1176_1178delinsCAA (p.Tyr392=) c.2151_2153delinsCAA (p.Tyr717=) | |
| 3 | g.37050633_37050638del | CA1139657995 | MLH1 | c.1815_1820del (p.Lys606_Ser607del) c.1957_1962del (p.Lys653_Val654del) c.2044_2049del (p.Lys682_Val683del) c.1528_1533del (p.Lys510_Val511del) c.2158_2163del (p.Lys720_Val721del) c.2086_2091del (p.Lys696_Val697del) c.2251_2256del (p.Lys751_Val752del) c.*1169_*1174del (n.*1169_*1174del) c.*2083_*2088del (n.*2083_*2088del) c.*1362_*1367del (n.*1362_*1367del) c.1195_1200del (p.Lys399_Val400del) c.2039_2044del n.1285_1290del n.1633_1638del c.*2043_*2048del (n.*2043_*2048del) c.1519_1524del (p.Lys507_Val508del) c.*2391_*2396del (n.*2391_*2396del) c.*2129_*2134del (n.*2129_*2134del) c.*480_*485del (n.*480_*485del) n.962_967del c.2019_2024del c.1228_1233del (p.Lys410_Val411del) c.1177_1182del (p.Lys393_Val394del) c.2152_2157del (p.Lys718_Val719del) | ClinVar dbSNP |
| 3 | g.37050633A= | CA1357891839 | MLH1 | c.1815A= (p.Thr605=) c.1957A= (p.Lys653=) c.2044A= (p.Lys682=) c.1528A= (p.Lys510=) c.2158A= (p.Lys720=) c.2086A= (p.Lys696=) c.2251A= (p.Lys751=) c.*1169A= (n.*1169A=) c.*2083A= (n.*2083A=) c.*1362A= (n.*1362A=) c.1195A= (p.Lys399=) c.2039A= n.1285A= n.1633A= c.*2043A= (n.*2043A=) c.1519A= (p.Lys507=) c.*2391A= (n.*2391A=) c.*2129A= (n.*2129A=) c.*480A= (n.*480A=) n.962A= c.2019A= c.1228A= (p.Lys410=) c.1177A= (p.Lys393=) c.2152A= (p.Lys718=) | |
| 3 | g.37050633A>C | CA352069808 | MLH1 | c.1815A>C (p.Thr605=) c.1957A>C (p.Lys653Gln) c.2044A>C (p.Lys682Gln) c.1528A>C (p.Lys510Gln) c.2158A>C (p.Lys720Gln) c.2086A>C (p.Lys696Gln) c.2251A>C (p.Lys751Gln) c.*1169A>C (n.*1169A>C) c.*2083A>C (n.*2083A>C) c.*1362A>C (n.*1362A>C) c.1195A>C (p.Lys399Gln) c.2039A>C n.1285A>C n.1633A>C c.*2043A>C (n.*2043A>C) c.1519A>C (p.Lys507Gln) c.*2391A>C (n.*2391A>C) c.*2129A>C (n.*2129A>C) c.*480A>C (n.*480A>C) n.962A>C c.2019A>C c.1228A>C (p.Lys410Gln) c.1177A>C (p.Lys393Gln) c.2152A>C (p.Lys718Gln) | gnomAD v4 |
| 3 | g.37050633A>G | CA352069806 | MLH1 | c.1815A>G (p.Thr605=) c.1957A>G (p.Lys653Glu) c.2044A>G (p.Lys682Glu) c.1528A>G (p.Lys510Glu) c.2158A>G (p.Lys720Glu) c.2086A>G (p.Lys696Glu) c.2251A>G (p.Lys751Glu) c.*1169A>G (n.*1169A>G) c.*2083A>G (n.*2083A>G) c.*1362A>G (n.*1362A>G) c.1195A>G (p.Lys399Glu) c.2039A>G n.1285A>G n.1633A>G c.*2043A>G (n.*2043A>G) c.1519A>G (p.Lys507Glu) c.*2391A>G (n.*2391A>G) c.*2129A>G (n.*2129A>G) c.*480A>G (n.*480A>G) n.962A>G c.2019A>G c.1228A>G (p.Lys410Glu) c.1177A>G (p.Lys393Glu) c.2152A>G (p.Lys718Glu) | |
| 3 | g.37050633A>T | CA009229 | MLH1 | c.1815A>T (p.Thr605=) c.1957A>T (p.Lys653Ter) c.2044A>T (p.Lys682Ter) c.1528A>T (p.Lys510Ter) c.2158A>T (p.Lys720Ter) c.2086A>T (p.Lys696Ter) c.2251A>T (p.Lys751Ter) c.*1169A>T (n.*1169A>T) c.*2083A>T (n.*2083A>T) c.*1362A>T (n.*1362A>T) c.1195A>T (p.Lys399Ter) c.2039A>T n.1285A>T n.1633A>T c.*2043A>T (n.*2043A>T) c.1519A>T (p.Lys507Ter) c.*2391A>T (n.*2391A>T) c.*2129A>T (n.*2129A>T) c.*480A>T (n.*480A>T) n.962A>T c.2019A>T c.1228A>T (p.Lys410Ter) c.1177A>T (p.Lys393Ter) c.2152A>T (p.Lys718Ter) | ClinVar dbSNP |
| 3 | g.37050635dup | CA2739292409 | MLH1 | c.1817dup (p.Ser607ValfsTer6) c.1959dup (p.Val654SerfsTer3) c.2046dup (p.Val683SerfsTer3) c.1530dup (p.Val511SerfsTer3) c.2160dup (p.Val721SerfsTer3) c.2088dup (p.Val697SerfsTer3) c.2253dup (p.Val752SerfsTer3) c.*1171dup (n.*1171dup) c.*2085dup (n.*2085dup) c.*1364dup (n.*1364dup) c.1197dup (p.Val400SerfsTer3) c.2041dup n.1287dup n.1635dup c.*2045dup (n.*2045dup) c.1521dup (p.Val508SerfsTer3) c.*2393dup (n.*2393dup) c.*2131dup (n.*2131dup) c.*482dup (n.*482dup) n.964dup c.2021dup c.1230dup (p.Val411SerfsTer3) c.1179dup (p.Val394SerfsTer3) c.2154dup (p.Val719SerfsTer3) | |
| 3 | g.37050634_37050635dup | CA009258 | MLH1 | c.1816_1817dup (p.Arg609Ter) c.1958_1959dup (p.Val654LysfsTer?) c.2045_2046dup (p.Val683LysfsTer?) c.1529_1530dup (p.Val511LysfsTer?) c.2159_2160dup (p.Val721LysfsTer?) c.2087_2088dup (p.Val697LysfsTer?) c.2252_2253dup (p.Val752LysfsTer?) c.*1170_*1171dup (n.*1170_*1171dup) c.*2084_*2085dup (n.*2084_*2085dup) c.*1363_*1364dup (n.*1363_*1364dup) c.1196_1197dup (p.Val400LysfsTer?) c.2040_2041dup n.1286_1287dup n.1634_1635dup c.*2044_*2045dup (n.*2044_*2045dup) c.1520_1521dup (p.Val508LysfsTer?) c.*2392_*2393dup (n.*2392_*2393dup) c.*2130_*2131dup (n.*2130_*2131dup) c.*481_*482dup (n.*481_*482dup) n.963_964dup c.2020_2021dup c.1229_1230dup (p.Val411LysfsTer?) c.1178_1179dup (p.Val394LysfsTer?) c.2153_2154dup (p.Val719LysfsTer?) | ClinVar dbSNP |
| 3 | g.37050635del | CA891842640 | MLH1 | c.1817del (p.Lys606SerfsTer3) c.1959del (p.Val654SerfsTer?) c.2046del (p.Val683SerfsTer?) c.1530del (p.Val511SerfsTer?) c.2160del (p.Val721SerfsTer?) c.2088del (p.Val697SerfsTer?) c.2253del (p.Val752SerfsTer?) c.*1171del (n.*1171del) c.*2085del (n.*2085del) c.*1364del (n.*1364del) c.1197del (p.Val400SerfsTer?) c.2041del n.1287del n.1635del c.*2045del (n.*2045del) c.1521del (p.Val508SerfsTer?) c.*2393del (n.*2393del) c.*2131del (n.*2131del) c.*482del (n.*482del) n.964del c.2021del c.1230del (p.Val411SerfsTer?) c.1179del (p.Val394SerfsTer?) c.2154del (p.Val719SerfsTer?) | ClinVar dbSNP |
| 3 | g.37050634_37050635del | CA009237 | MLH1 | c.1816_1817del (p.Lys606ValfsTer6) c.1958_1959del (p.Lys653SerfsTer3) c.2045_2046del (p.Lys682SerfsTer3) c.1529_1530del (p.Lys510SerfsTer3) c.2159_2160del (p.Lys720SerfsTer3) c.2087_2088del (p.Lys696SerfsTer3) c.2252_2253del (p.Lys751SerfsTer3) c.*1170_*1171del (n.*1170_*1171del) c.*2084_*2085del (n.*2084_*2085del) c.*1363_*1364del (n.*1363_*1364del) c.1196_1197del (p.Lys399SerfsTer3) c.2040_2041del n.1286_1287del n.1634_1635del c.*2044_*2045del (n.*2044_*2045del) c.1520_1521del (p.Lys507SerfsTer3) c.*2392_*2393del (n.*2392_*2393del) c.*2130_*2131del (n.*2130_*2131del) c.*481_*482del (n.*481_*482del) n.963_964del c.2020_2021del c.1229_1230del (p.Lys410SerfsTer3) c.1178_1179del (p.Lys393SerfsTer3) c.2153_2154del (p.Lys718SerfsTer3) | ClinVar dbSNP gnomAD v4 |
| 3 | g.37050634A= | CA1357891840 | MLH1 | c.1816A= (p.Lys606=) c.1958A= (p.Lys653=) c.2045A= (p.Lys682=) c.1529A= (p.Lys510=) c.2159A= (p.Lys720=) c.2087A= (p.Lys696=) c.2252A= (p.Lys751=) c.*1170A= (n.*1170A=) c.*2084A= (n.*2084A=) c.*1363A= (n.*1363A=) c.1196A= (p.Lys399=) c.2040A= n.1286A= n.1634A= c.*2044A= (n.*2044A=) c.1520A= (p.Lys507=) c.*2392A= (n.*2392A=) c.*2130A= (n.*2130A=) c.*481A= (n.*481A=) n.963A= c.2020A= c.1229A= (p.Lys410=) c.1178A= (p.Lys393=) c.2153A= (p.Lys718=) | |
| 3 | g.37050634A>C | CA352069812 | MLH1 | c.1816A>C (p.Lys606Gln) c.1958A>C (p.Lys653Thr) c.2045A>C (p.Lys682Thr) c.1529A>C (p.Lys510Thr) c.2159A>C (p.Lys720Thr) c.2087A>C (p.Lys696Thr) c.2252A>C (p.Lys751Thr) c.*1170A>C (n.*1170A>C) c.*2084A>C (n.*2084A>C) c.*1363A>C (n.*1363A>C) c.1196A>C (p.Lys399Thr) c.2040A>C n.1286A>C n.1634A>C c.*2044A>C (n.*2044A>C) c.1520A>C (p.Lys507Thr) c.*2392A>C (n.*2392A>C) c.*2130A>C (n.*2130A>C) c.*481A>C (n.*481A>C) n.963A>C c.2020A>C c.1229A>C (p.Lys410Thr) c.1178A>C (p.Lys393Thr) c.2153A>C (p.Lys718Thr) | |
| 3 | g.37050634A>G | CA009252 | MLH1 | c.1816A>G (p.Lys606Glu) c.1958A>G (p.Lys653Arg) c.2045A>G (p.Lys682Arg) c.1529A>G (p.Lys510Arg) c.2159A>G (p.Lys720Arg) c.2087A>G (p.Lys696Arg) c.2252A>G (p.Lys751Arg) c.*1170A>G (n.*1170A>G) c.*2084A>G (n.*2084A>G) c.*1363A>G (n.*1363A>G) c.1196A>G (p.Lys399Arg) c.2040A>G n.1286A>G n.1634A>G c.*2044A>G (n.*2044A>G) c.1520A>G (p.Lys507Arg) c.*2392A>G (n.*2392A>G) c.*2130A>G (n.*2130A>G) c.*481A>G (n.*481A>G) n.963A>G c.2020A>G c.1229A>G (p.Lys410Arg) c.1178A>G (p.Lys393Arg) c.2153A>G (p.Lys718Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.37050634A>T | CA352069816 | MLH1 | c.1816A>T (p.Lys606Ter) c.1958A>T (p.Lys653Ile) c.2045A>T (p.Lys682Ile) c.1529A>T (p.Lys510Ile) c.2159A>T (p.Lys720Ile) c.2087A>T (p.Lys696Ile) c.2252A>T (p.Lys751Ile) c.*1170A>T (n.*1170A>T) c.*2084A>T (n.*2084A>T) c.*1363A>T (n.*1363A>T) c.1196A>T (p.Lys399Ile) c.2040A>T n.1286A>T n.1634A>T c.*2044A>T (n.*2044A>T) c.1520A>T (p.Lys507Ile) c.*2392A>T (n.*2392A>T) c.*2130A>T (n.*2130A>T) c.*481A>T (n.*481A>T) n.963A>T c.2020A>T c.1229A>T (p.Lys410Ile) c.1178A>T (p.Lys393Ile) c.2153A>T (p.Lys718Ile) | dbSNP |
| 3 | g.37050634_37050636dup | CA2739279451 | MLH1 | c.1816_1818dup (p.Lys606_Ser607insLys) c.1958_1960dup (p.Lys653_Val654insGlu) c.2045_2047dup (p.Lys682_Val683insGlu) c.1529_1531dup (p.Lys510_Val511insGlu) c.2159_2161dup (p.Lys720_Val721insGlu) c.2087_2089dup (p.Lys696_Val697insGlu) c.2252_2254dup (p.Lys751_Val752insGlu) c.*1170_*1172dup (n.*1170_*1172dup) c.*2084_*2086dup (n.*2084_*2086dup) c.*1363_*1365dup (n.*1363_*1365dup) c.1196_1198dup (p.Lys399_Val400insGlu) c.2040_2042dup n.1286_1288dup n.1634_1636dup c.*2044_*2046dup (n.*2044_*2046dup) c.1520_1522dup (p.Lys507_Val508insGlu) c.*2392_*2394dup (n.*2392_*2394dup) c.*2130_*2132dup (n.*2130_*2132dup) c.*481_*483dup (n.*481_*483dup) n.963_965dup c.2020_2022dup c.1229_1231dup (p.Lys410_Val411insGlu) c.1178_1180dup (p.Lys393_Val394insGlu) c.2153_2155dup (p.Lys718_Val719insGlu) | ClinVar |
| 3 | g.37050635A>C | CA352069818 | MLH1 | c.1817A>C (p.Lys606Thr) c.1959A>C (p.Lys653Asn) c.2046A>C (p.Lys682Asn) c.1530A>C (p.Lys510Asn) c.2160A>C (p.Lys720Asn) c.2088A>C (p.Lys696Asn) c.2253A>C (p.Lys751Asn) c.*1171A>C (n.*1171A>C) c.*2085A>C (n.*2085A>C) c.*1364A>C (n.*1364A>C) c.1197A>C (p.Lys399Asn) c.2041A>C n.1287A>C n.1635A>C c.*2045A>C (n.*2045A>C) c.1521A>C (p.Lys507Asn) c.*2393A>C (n.*2393A>C) c.*2131A>C (n.*2131A>C) c.*482A>C (n.*482A>C) n.964A>C c.2021A>C c.1230A>C (p.Lys410Asn) c.1179A>C (p.Lys393Asn) c.2154A>C (p.Lys718Asn) | ClinVar |
| 3 | g.37050635A>G | CA433087033 | MLH1 | c.1817A>G (p.Lys606Arg) c.1959A>G (p.Lys653=) c.2046A>G (p.Lys682=) c.1530A>G (p.Lys510=) c.2160A>G (p.Lys720=) c.2088A>G (p.Lys696=) c.2253A>G (p.Lys751=) c.*1171A>G (n.*1171A>G) c.*2085A>G (n.*2085A>G) c.*1364A>G (n.*1364A>G) c.1197A>G (p.Lys399=) c.2041A>G n.1287A>G n.1635A>G c.*2045A>G (n.*2045A>G) c.1521A>G (p.Lys507=) c.*2393A>G (n.*2393A>G) c.*2131A>G (n.*2131A>G) c.*482A>G (n.*482A>G) n.964A>G c.2021A>G c.1230A>G (p.Lys410=) c.1179A>G (p.Lys393=) c.2154A>G (p.Lys718=) | dbSNP |
| 3 | g.37050635A>T | CA352069821 | MLH1 | c.1817A>T (p.Lys606Met) c.1959A>T (p.Lys653Asn) c.2046A>T (p.Lys682Asn) c.1530A>T (p.Lys510Asn) c.2160A>T (p.Lys720Asn) c.2088A>T (p.Lys696Asn) c.2253A>T (p.Lys751Asn) c.*1171A>T (n.*1171A>T) c.*2085A>T (n.*2085A>T) c.*1364A>T (n.*1364A>T) c.1197A>T (p.Lys399Asn) c.2041A>T n.1287A>T n.1635A>T c.*2045A>T (n.*2045A>T) c.1521A>T (p.Lys507Asn) c.*2393A>T (n.*2393A>T) c.*2131A>T (n.*2131A>T) c.*482A>T (n.*482A>T) n.964A>T c.2021A>T c.1230A>T (p.Lys410Asn) c.1179A>T (p.Lys393Asn) c.2154A>T (p.Lys718Asn) | dbSNP |
| 3 | g.37050636G>A | CA352069823 | MLH1 | c.1818G>A (p.Lys606=) c.1960G>A (p.Val654Ile) c.2047G>A (p.Val683Ile) c.1531G>A (p.Val511Ile) c.2161G>A (p.Val721Ile) c.2089G>A (p.Val697Ile) c.2254G>A (p.Val752Ile) c.*1172G>A (n.*1172G>A) c.*2086G>A (n.*2086G>A) c.*1365G>A (n.*1365G>A) c.1198G>A (p.Val400Ile) c.2042G>A n.1288G>A n.1636G>A c.*2046G>A (n.*2046G>A) c.1522G>A (p.Val508Ile) c.*2394G>A (n.*2394G>A) c.*2132G>A (n.*2132G>A) c.*483G>A (n.*483G>A) n.965G>A c.2022G>A c.1231G>A (p.Val411Ile) c.1180G>A (p.Val394Ile) c.2155G>A (p.Val719Ile) | dbSNP |
| 3 | g.37050636G>C | CA352069826 | MLH1 | c.1818G>C (p.Lys606Asn) c.1960G>C (p.Val654Leu) c.2047G>C (p.Val683Leu) c.1531G>C (p.Val511Leu) c.2161G>C (p.Val721Leu) c.2089G>C (p.Val697Leu) c.2254G>C (p.Val752Leu) c.*1172G>C (n.*1172G>C) c.*2086G>C (n.*2086G>C) c.*1365G>C (n.*1365G>C) c.1198G>C (p.Val400Leu) c.2042G>C n.1288G>C n.1636G>C c.*2046G>C (n.*2046G>C) c.1522G>C (p.Val508Leu) c.*2394G>C (n.*2394G>C) c.*2132G>C (n.*2132G>C) c.*483G>C (n.*483G>C) n.965G>C c.2022G>C c.1231G>C (p.Val411Leu) c.1180G>C (p.Val394Leu) c.2155G>C (p.Val719Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |