| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.37050628_37050811dup | CA198856 | MLH1 | c.2246_*158dup (p.=) c.*1164_*1347dup (p.=) c.*2078_*2261dup (p.=) n.1190_1373dup (p.=) n.1280_1463dup c.*2386_*2569dup (p.=) c.*2124_*2307dup (p.=) c.1523_*158dup (p.=) n.957_1140dup c.1952_*158dup (p.=) n.2014_2197dup c.2039_*158dup (p.=) c.1223_*158dup (p.=) c.1172_*158dup (p.=) c.2153_*158dup (p.=) c.2147_*158dup (p.=) c.2081_*158dup (p.=) | |
| 3 | g.37050641del | CA16611255 | MLH1 | c.2259del (p.Phe753LeufsTer30) c.*1177del (p.=) c.*2091del (p.=) c.*1370del (p.=) c.1536del (p.Phe512LeufsTer30) n.1203del (p.Phe401LeufsTer30) n.2047del n.1293del n.1641del c.*2051del (p.=) c.1527del (p.Phe509LeufsTer30) c.*2399del (p.=) c.*2137del (p.=) c.*488del (p.=) n.970del c.1965del (p.Phe655LeufsTer30) c.1536del (p.Phe512LeufsTer?) n.2027del c.2052del (p.Phe684LeufsTer30) c.1236del (p.Phe412LeufsTer30) c.1185del (p.Phe395LeufsTer30) c.2166del (p.Phe722LeufsTer30) c.2160del (p.Phe720LeufsTer30) c.2094del (p.Phe698LeufsTer30) | ClinVar dbSNP |
| 3 | g.37050641T>A | CA352069857 | MLH1 | c.2259T>A (p.Phe753Leu) c.*1177T>A (p.=) c.*2091T>A (p.=) c.*1370T>A (p.=) c.1536T>A (p.Phe512Leu) n.1203T>A (p.Phe401Leu) n.2047T>A n.1293T>A n.1641T>A c.*2051T>A (p.=) c.1527T>A (p.Phe509Leu) c.*2399T>A (p.=) c.*2137T>A (p.=) c.*488T>A (p.=) n.970T>A c.1965T>A (p.Phe655Leu) n.2027T>A c.2052T>A (p.Phe684Leu) c.1236T>A (p.Phe412Leu) c.1185T>A (p.Phe395Leu) c.2166T>A (p.Phe722Leu) c.2160T>A (p.Phe720Leu) c.2094T>A (p.Phe698Leu) | |
| 3 | g.37050641T>C | CA433087040 | MLH1 | c.2259T>C (p.Phe753=) c.*1177T>C (p.=) c.*2091T>C (p.=) c.*1370T>C (p.=) c.1536T>C (p.Phe512=) n.1203T>C (p.Phe401=) n.2047T>C n.1293T>C n.1641T>C c.*2051T>C (p.=) c.1527T>C (p.Phe509=) c.*2399T>C (p.=) c.*2137T>C (p.=) c.*488T>C (p.=) n.970T>C c.1965T>C (p.Phe655=) n.2027T>C c.2052T>C (p.Phe684=) c.1236T>C (p.Phe412=) c.1185T>C (p.Phe395=) c.2166T>C (p.Phe722=) c.2160T>C (p.Phe720=) c.2094T>C (p.Phe698=) | |
| 3 | g.37050641T>G | CA352069858 | MLH1 | c.2259T>G (p.Phe753Leu) c.*1177T>G (p.=) c.*2091T>G (p.=) c.*1370T>G (p.=) c.1536T>G (p.Phe512Leu) n.1203T>G (p.Phe401Leu) n.2047T>G n.1293T>G n.1641T>G c.*2051T>G (p.=) c.1527T>G (p.Phe509Leu) c.*2399T>G (p.=) c.*2137T>G (p.=) c.*488T>G (p.=) n.970T>G c.1965T>G (p.Phe655Leu) n.2027T>G c.2052T>G (p.Phe684Leu) c.1236T>G (p.Phe412Leu) c.1185T>G (p.Phe395Leu) c.2166T>G (p.Phe722Leu) c.2160T>G (p.Phe720Leu) c.2094T>G (p.Phe698Leu) | |
| 3 | g.37050641_37050643delinsTGA | CA1357891845 | MLH1 | c.2259_2261delinsTGA (p.Phe753=) c.*1177_*1179delinsTGA (p.=) c.*2091_*2093delinsTGA (p.=) c.*1370_*1372delinsTGA (p.=) c.1536_1538delinsTGA (p.Phe512=) n.1203_1205delinsTGA (p.Phe401=) n.2047_2049delinsTGA n.1293_1295delinsTGA n.1641_1643delinsTGA c.*2051_*2053delinsTGA (p.=) c.1527_1529delinsTGA (p.Phe509=) c.*2399_*2401delinsTGA (p.=) c.*2137_*2139delinsTGA (p.=) c.*488_*490delinsTGA (p.=) n.970_972delinsTGA c.1965_1967delinsTGA (p.Phe655=) n.2027_2029delinsTGA c.2052_2054delinsTGA (p.Phe684=) c.1236_1238delinsTGA (p.Phe412=) c.1185_1187delinsTGA (p.Phe395=) c.2166_2168delinsTGA (p.Phe722=) c.2160_2162delinsTGA (p.Phe720=) c.2094_2096delinsTGA (p.Phe698=) | |
| 3 | g.37050642G>A | CA348228 | MLH1 | c.2260G>A (p.Glu754Lys) c.*1178G>A (p.=) c.*2092G>A (p.=) c.*1371G>A (p.=) c.1537G>A (p.Glu513Lys) n.1204G>A (p.Glu402Lys) n.2048G>A n.1294G>A n.1642G>A c.*2052G>A (p.=) c.1528G>A (p.Glu510Lys) c.*2400G>A (p.=) c.*2138G>A (p.=) c.*489G>A (p.=) n.971G>A c.1966G>A (p.Glu656Lys) n.2028G>A c.2053G>A (p.Glu685Lys) c.1237G>A (p.Glu413Lys) c.1186G>A (p.Glu396Lys) c.2167G>A (p.Glu723Lys) c.2161G>A (p.Glu721Lys) c.2095G>A (p.Glu699Lys) | ClinVar dbSNP |
| 3 | g.37050642G>C | CA352069863 | MLH1 | c.2260G>C (p.Glu754Gln) c.*1178G>C (p.=) c.*2092G>C (p.=) c.*1371G>C (p.=) c.1537G>C (p.Glu513Gln) n.1204G>C (p.Glu402Gln) n.2048G>C n.1294G>C n.1642G>C c.*2052G>C (p.=) c.1528G>C (p.Glu510Gln) c.*2400G>C (p.=) c.*2138G>C (p.=) c.*489G>C (p.=) n.971G>C c.1966G>C (p.Glu656Gln) n.2028G>C c.2053G>C (p.Glu685Gln) c.1237G>C (p.Glu413Gln) c.1186G>C (p.Glu396Gln) c.2167G>C (p.Glu723Gln) c.2161G>C (p.Glu721Gln) c.2095G>C (p.Glu699Gln) | COSMIC |
| 3 | g.37050642G= | CA1357891846 | MLH1 | c.2260G= (p.Glu754=) c.*1178G= (p.=) c.*2092G= (p.=) c.*1371G= (p.=) c.1537G= (p.Glu513=) n.1204G= (p.Glu402=) n.2048G= n.1294G= n.1642G= c.*2052G= (p.=) c.1528G= (p.Glu510=) c.*2400G= (p.=) c.*2138G= (p.=) c.*489G= (p.=) n.971G= c.1966G= (p.Glu656=) n.2028G= c.2053G= (p.Glu685=) c.1237G= (p.Glu413=) c.1186G= (p.Glu396=) c.2167G= (p.Glu723=) c.2161G= (p.Glu721=) c.2095G= (p.Glu699=) | |
| 3 | g.37050642G>T | CA352069866 | MLH1 | c.2260G>T (p.Glu754Ter) c.*1178G>T (p.=) c.*2092G>T (p.=) c.*1371G>T (p.=) c.1537G>T (p.Glu513Ter) n.1204G>T (p.Glu402Ter) n.2048G>T n.1294G>T n.1642G>T c.*2052G>T (p.=) c.1528G>T (p.Glu510Ter) c.*2400G>T (p.=) c.*2138G>T (p.=) c.*489G>T (p.=) n.971G>T c.1966G>T (p.Glu656Ter) n.2028G>T c.2053G>T (p.Glu685Ter) c.1237G>T (p.Glu413Ter) c.1186G>T (p.Glu396Ter) c.2167G>T (p.Glu723Ter) c.2161G>T (p.Glu721Ter) c.2095G>T (p.Glu699Ter) | ClinVar |
| 3 | g.37050645_37050646del | CA16622116 | MLH1 | c.2263_2264del (p.Arg755ValfsTer?) c.*1181_*1182del (p.=) c.*2095_*2096del (p.=) c.*1374_*1375del (p.=) c.1540_1541del (p.Arg514ValfsTer?) n.1207_1208del (p.Arg403ValfsTer?) n.2051_2052del n.1297_1298del n.1645_1646del c.*2055_*2056del (p.=) c.1531_1532del (p.Arg511ValfsTer?) c.*2403_*2404del (p.=) c.*2141_*2142del (p.=) c.*492_*493del (p.=) n.974_975del c.1969_1970del (p.Arg657ValfsTer?) n.2031_2032del c.2056_2057del (p.Arg686ValfsTer?) c.1240_1241del (p.Arg414ValfsTer?) c.1189_1190del (p.Arg397ValfsTer?) c.2170_2171del (p.Arg724ValfsTer?) c.2164_2165del (p.Arg722ValfsTer?) c.2098_2099del (p.Arg700ValfsTer?) | ClinVar dbSNP |
| 3 | g.37050643A>C | CA352069868 | MLH1 | c.2261A>C (p.Glu754Ala) c.*1179A>C (p.=) c.*2093A>C (p.=) c.*1372A>C (p.=) c.1538A>C (p.Glu513Ala) n.1205A>C (p.Glu402Ala) n.2049A>C n.1295A>C n.1643A>C c.*2053A>C (p.=) c.1529A>C (p.Glu510Ala) c.*2401A>C (p.=) c.*2139A>C (p.=) c.*490A>C (p.=) n.972A>C c.1967A>C (p.Glu656Ala) n.2029A>C c.2054A>C (p.Glu685Ala) c.1238A>C (p.Glu413Ala) c.1187A>C (p.Glu396Ala) c.2168A>C (p.Glu723Ala) c.2162A>C (p.Glu721Ala) c.2096A>C (p.Glu699Ala) | |
| 3 | g.37050643A>G | CA352069871 | MLH1 | c.2261A>G (p.Glu754Gly) c.*1179A>G (p.=) c.*2093A>G (p.=) c.*1372A>G (p.=) c.1538A>G (p.Glu513Gly) n.1205A>G (p.Glu402Gly) n.2049A>G n.1295A>G n.1643A>G c.*2053A>G (p.=) c.1529A>G (p.Glu510Gly) c.*2401A>G (p.=) c.*2139A>G (p.=) c.*490A>G (p.=) n.972A>G c.1967A>G (p.Glu656Gly) n.2029A>G c.2054A>G (p.Glu685Gly) c.1238A>G (p.Glu413Gly) c.1187A>G (p.Glu396Gly) c.2168A>G (p.Glu723Gly) c.2162A>G (p.Glu721Gly) c.2096A>G (p.Glu699Gly) | |
| 3 | g.37050643A>T | CA352069874 | MLH1 | c.2261A>T (p.Glu754Val) c.*1179A>T (p.=) c.*2093A>T (p.=) c.*1372A>T (p.=) c.1538A>T (p.Glu513Val) n.1205A>T (p.Glu402Val) n.2049A>T n.1295A>T n.1643A>T c.*2053A>T (p.=) c.1529A>T (p.Glu510Val) c.*2401A>T (p.=) c.*2139A>T (p.=) c.*490A>T (p.=) n.972A>T c.1967A>T (p.Glu656Val) n.2029A>T c.2054A>T (p.Glu685Val) c.1238A>T (p.Glu413Val) c.1187A>T (p.Glu396Val) c.2168A>T (p.Glu723Val) c.2162A>T (p.Glu721Val) c.2096A>T (p.Glu699Val) | |
| 3 | g.37050643_37050644delinsAG | CA1357891847 | MLH1 | c.2261_2262delinsAG (p.Glu754=) c.*1179_*1180delinsAG (p.=) c.*2093_*2094delinsAG (p.=) c.*1372_*1373delinsAG (p.=) c.1538_1539delinsAG (p.Glu513=) n.1205_1206delinsAG (p.Glu402=) n.2049_2050delinsAG n.1295_1296delinsAG n.1643_1644delinsAG c.*2053_*2054delinsAG (p.=) c.1529_1530delinsAG (p.Glu510=) c.*2401_*2402delinsAG (p.=) c.*2139_*2140delinsAG (p.=) c.*490_*491delinsAG (p.=) n.972_973delinsAG c.1967_1968delinsAG (p.Glu656=) n.2029_2030delinsAG c.2054_2055delinsAG (p.Glu685=) c.1238_1239delinsAG (p.Glu413=) c.1187_1188delinsAG (p.Glu396=) c.2168_2169delinsAG (p.Glu723=) c.2162_2163delinsAG (p.Glu721=) c.2096_2097delinsAG (p.Glu699=) | |
| 3 | g.37050644del | CA009277 | MLH1 | c.2262del (p.Arg755GlyfsTer28) c.*1180del (p.=) c.*2094del (p.=) c.*1373del (p.=) c.1539del (p.Arg514GlyfsTer28) n.1206del (p.Arg403GlyfsTer28) n.2050del n.1296del n.1644del c.*2054del (p.=) c.1530del (p.Arg511GlyfsTer28) c.*2402del (p.=) c.*2140del (p.=) c.*491del (p.=) n.973del c.1968del (p.Arg657GlyfsTer28) c.1539del (p.Arg514GlyfsTer?) n.2030del c.2055del (p.Arg686GlyfsTer28) c.1239del (p.Arg414GlyfsTer28) c.1188del (p.Arg397GlyfsTer28) c.2169del (p.Arg724GlyfsTer28) c.2163del (p.Arg722GlyfsTer28) c.2097del (p.Arg700GlyfsTer28) | ClinVar dbSNP |
| 3 | g.37050644G>A | CA433087046 | MLH1 | c.2262G>A (p.Glu754=) c.*1180G>A (p.=) c.*2094G>A (p.=) c.*1373G>A (p.=) c.1539G>A (p.Glu513=) n.1206G>A (p.Glu402=) n.2050G>A n.1296G>A n.1644G>A c.*2054G>A (p.=) c.1530G>A (p.Glu510=) c.*2402G>A (p.=) c.*2140G>A (p.=) c.*491G>A (p.=) n.973G>A c.1968G>A (p.Glu656=) n.2030G>A c.2055G>A (p.Glu685=) c.1239G>A (p.Glu413=) c.1188G>A (p.Glu396=) c.2169G>A (p.Glu723=) c.2163G>A (p.Glu721=) c.2097G>A (p.Glu699=) | |
| 3 | g.37050644G>C | CA352069877 | MLH1 | c.2262G>C (p.Glu754Asp) c.*1180G>C (p.=) c.*2094G>C (p.=) c.*1373G>C (p.=) c.1539G>C (p.Glu513Asp) n.1206G>C (p.Glu402Asp) n.2050G>C n.1296G>C n.1644G>C c.*2054G>C (p.=) c.1530G>C (p.Glu510Asp) c.*2402G>C (p.=) c.*2140G>C (p.=) c.*491G>C (p.=) n.973G>C c.1968G>C (p.Glu656Asp) n.2030G>C c.2055G>C (p.Glu685Asp) c.1239G>C (p.Glu413Asp) c.1188G>C (p.Glu396Asp) c.2169G>C (p.Glu723Asp) c.2163G>C (p.Glu721Asp) c.2097G>C (p.Glu699Asp) | |
| 3 | g.37050644G= | CA1357891848 | MLH1 | c.2262G= (p.Glu754=) c.*1180G= (p.=) c.*2094G= (p.=) c.*1373G= (p.=) c.1539G= (p.Glu513=) n.1206G= (p.Glu402=) n.2050G= n.1296G= n.1644G= c.*2054G= (p.=) c.1530G= (p.Glu510=) c.*2402G= (p.=) c.*2140G= (p.=) c.*491G= (p.=) n.973G= c.1968G= (p.Glu656=) n.2030G= c.2055G= (p.Glu685=) c.1239G= (p.Glu413=) c.1188G= (p.Glu396=) c.2169G= (p.Glu723=) c.2163G= (p.Glu721=) c.2097G= (p.Glu699=) | |
| 3 | g.37050644G>T | CA352069881 | MLH1 | c.2262G>T (p.Glu754Asp) c.*1180G>T (p.=) c.*2094G>T (p.=) c.*1373G>T (p.=) c.1539G>T (p.Glu513Asp) n.1206G>T (p.Glu402Asp) n.2050G>T n.1296G>T n.1644G>T c.*2054G>T (p.=) c.1530G>T (p.Glu510Asp) c.*2402G>T (p.=) c.*2140G>T (p.=) c.*491G>T (p.=) n.973G>T c.1968G>T (p.Glu656Asp) n.2030G>T c.2055G>T (p.Glu685Asp) c.1239G>T (p.Glu413Asp) c.1188G>T (p.Glu396Asp) c.2169G>T (p.Glu723Asp) c.2163G>T (p.Glu721Asp) c.2097G>T (p.Glu699Asp) | ClinVar |
| 3 | g.37050645A= | CA1357891849 | MLH1 | c.2263A= (p.Arg755=) c.*1181A= (p.=) c.*2095A= (p.=) c.*1374A= (p.=) c.1540A= (p.Arg514=) n.1207A= (p.Arg403=) n.2051A= n.1297A= n.1645A= c.*2055A= (p.=) c.1531A= (p.Arg511=) c.*2403A= (p.=) c.*2141A= (p.=) c.*492A= (p.=) n.974A= c.1969A= (p.Arg657=) n.2031A= c.2056A= (p.Arg686=) c.1240A= (p.Arg414=) c.1189A= (p.Arg397=) c.2170A= (p.Arg724=) c.2164A= (p.Arg722=) c.2098A= (p.Arg700=) | |
| 3 | g.37050645A>C | CA433087047 | MLH1 | c.2263A>C (p.Arg755=) c.*1181A>C (p.=) c.*2095A>C (p.=) c.*1374A>C (p.=) c.1540A>C (p.Arg514=) n.1207A>C (p.Arg403=) n.2051A>C n.1297A>C n.1645A>C c.*2055A>C (p.=) c.1531A>C (p.Arg511=) c.*2403A>C (p.=) c.*2141A>C (p.=) c.*492A>C (p.=) n.974A>C c.1969A>C (p.Arg657=) n.2031A>C c.2056A>C (p.Arg686=) c.1240A>C (p.Arg414=) c.1189A>C (p.Arg397=) c.2170A>C (p.Arg724=) c.2164A>C (p.Arg722=) c.2098A>C (p.Arg700=) | |
| 3 | g.37050645A>G | CA350722 | MLH1 | c.2263A>G (p.Arg755Gly) c.*1181A>G (p.=) c.*2095A>G (p.=) c.*1374A>G (p.=) c.1540A>G (p.Arg514Gly) n.1207A>G (p.Arg403Gly) n.2051A>G n.1297A>G n.1645A>G c.*2055A>G (p.=) c.1531A>G (p.Arg511Gly) c.*2403A>G (p.=) c.*2141A>G (p.=) c.*492A>G (p.=) n.974A>G c.1969A>G (p.Arg657Gly) n.2031A>G c.2056A>G (p.Arg686Gly) c.1240A>G (p.Arg414Gly) c.1189A>G (p.Arg397Gly) c.2170A>G (p.Arg724Gly) c.2164A>G (p.Arg722Gly) c.2098A>G (p.Arg700Gly) | ClinVar dbSNP |
| 3 | g.37050645A>T | CA009285 | MLH1 | c.2263A>T (p.Arg755Trp) c.*1181A>T (p.=) c.*2095A>T (p.=) c.*1374A>T (p.=) c.1540A>T (p.Arg514Trp) n.1207A>T (p.Arg403Trp) n.2051A>T n.1297A>T n.1645A>T c.*2055A>T (p.=) c.1531A>T (p.Arg511Trp) c.*2403A>T (p.=) c.*2141A>T (p.=) c.*492A>T (p.=) n.974A>T c.1969A>T (p.Arg657Trp) n.2031A>T c.2056A>T (p.Arg686Trp) c.1240A>T (p.Arg414Trp) c.1189A>T (p.Arg397Trp) c.2170A>T (p.Arg724Trp) c.2164A>T (p.Arg722Trp) c.2098A>T (p.Arg700Trp) | dbSNP |
| 3 | g.37050646G>A | CA352069889 | MLH1 | c.2264G>A (p.Arg755Lys) c.*1182G>A (p.=) c.*2096G>A (p.=) c.*1375G>A (p.=) c.1541G>A (p.Arg514Lys) n.1208G>A (p.Arg403Lys) n.2052G>A n.1298G>A n.1646G>A c.*2056G>A (p.=) c.1532G>A (p.Arg511Lys) c.*2404G>A (p.=) c.*2142G>A (p.=) c.*493G>A (p.=) n.975G>A c.1970G>A (p.Arg657Lys) n.2032G>A c.2057G>A (p.Arg686Lys) c.1241G>A (p.Arg414Lys) c.1190G>A (p.Arg397Lys) c.2171G>A (p.Arg724Lys) c.2165G>A (p.Arg722Lys) c.2099G>A (p.Arg700Lys) | |
| 3 | g.37050646G>C | CA352069894 | MLH1 | c.2264G>C (p.Arg755Thr) c.*1182G>C (p.=) c.*2096G>C (p.=) c.*1375G>C (p.=) c.1541G>C (p.Arg514Thr) n.1208G>C (p.Arg403Thr) n.2052G>C n.1298G>C n.1646G>C c.*2056G>C (p.=) c.1532G>C (p.Arg511Thr) c.*2404G>C (p.=) c.*2142G>C (p.=) c.*493G>C (p.=) n.975G>C c.1970G>C (p.Arg657Thr) n.2032G>C c.2057G>C (p.Arg686Thr) c.1241G>C (p.Arg414Thr) c.1190G>C (p.Arg397Thr) c.2171G>C (p.Arg724Thr) c.2165G>C (p.Arg722Thr) c.2099G>C (p.Arg700Thr) | |
| 3 | g.37050646G>T | CA352069892 | MLH1 | c.2264G>T (p.Arg755Met) c.*1182G>T (p.=) c.*2096G>T (p.=) c.*1375G>T (p.=) c.1541G>T (p.Arg514Met) n.1208G>T (p.Arg403Met) n.2052G>T n.1298G>T n.1646G>T c.*2056G>T (p.=) c.1532G>T (p.Arg511Met) c.*2404G>T (p.=) c.*2142G>T (p.=) c.*493G>T (p.=) n.975G>T c.1970G>T (p.Arg657Met) n.2032G>T c.2057G>T (p.Arg686Met) c.1241G>T (p.Arg414Met) c.1190G>T (p.Arg397Met) c.2171G>T (p.Arg724Met) c.2165G>T (p.Arg722Met) c.2099G>T (p.Arg700Met) | |
| 3 | g.37050647G>A | CA433087049 | MLH1 | c.2265G>A (p.Arg755=) c.*1183G>A (p.=) c.*2097G>A (p.=) c.*1376G>A (p.=) c.1542G>A (p.Arg514=) n.1209G>A (p.Arg403=) n.2053G>A n.1299G>A n.1647G>A c.*2057G>A (p.=) c.1533G>A (p.Arg511=) c.*2405G>A (p.=) c.*2143G>A (p.=) c.*494G>A (p.=) n.976G>A c.1971G>A (p.Arg657=) n.2033G>A c.2058G>A (p.Arg686=) c.1242G>A (p.Arg414=) c.1191G>A (p.Arg397=) c.2172G>A (p.Arg724=) c.2166G>A (p.Arg722=) c.2100G>A (p.Arg700=) | |
| 3 | g.37050647G>C | CA009293 | MLH1 | c.2265G>C (p.Arg755Ser) c.*1183G>C (p.=) c.*2097G>C (p.=) c.*1376G>C (p.=) c.1542G>C (p.Arg514Ser) n.1209G>C (p.Arg403Ser) n.2053G>C n.1299G>C n.1647G>C c.*2057G>C (p.=) c.1533G>C (p.Arg511Ser) c.*2405G>C (p.=) c.*2143G>C (p.=) c.*494G>C (p.=) n.976G>C c.1971G>C (p.Arg657Ser) n.2033G>C c.2058G>C (p.Arg686Ser) c.1242G>C (p.Arg414Ser) c.1191G>C (p.Arg397Ser) c.2172G>C (p.Arg724Ser) c.2166G>C (p.Arg722Ser) c.2100G>C (p.Arg700Ser) | ClinVar dbSNP |
| 3 | g.37050647G= | CA1357891850 | MLH1 | c.2265G= (p.Arg755=) c.*1183G= (p.=) c.*2097G= (p.=) c.*1376G= (p.=) c.1542G= (p.Arg514=) n.1209G= (p.Arg403=) n.2053G= n.1299G= n.1647G= c.*2057G= (p.=) c.1533G= (p.Arg511=) c.*2405G= (p.=) c.*2143G= (p.=) c.*494G= (p.=) n.976G= c.1971G= (p.Arg657=) n.2033G= c.2058G= (p.Arg686=) c.1242G= (p.Arg414=) c.1191G= (p.Arg397=) c.2172G= (p.Arg724=) c.2166G= (p.Arg722=) c.2100G= (p.Arg700=) | |
| 3 | g.37050647G>T | CA352069899 | MLH1 | c.2265G>T (p.Arg755Ser) c.*1183G>T (p.=) c.*2097G>T (p.=) c.*1376G>T (p.=) c.1542G>T (p.Arg514Ser) n.1209G>T (p.Arg403Ser) n.2053G>T n.1299G>T n.1647G>T c.*2057G>T (p.=) c.1533G>T (p.Arg511Ser) c.*2405G>T (p.=) c.*2143G>T (p.=) c.*494G>T (p.=) n.976G>T c.1971G>T (p.Arg657Ser) n.2033G>T c.2058G>T (p.Arg686Ser) c.1242G>T (p.Arg414Ser) c.1191G>T (p.Arg397Ser) c.2172G>T (p.Arg724Ser) c.2166G>T (p.Arg722Ser) c.2100G>T (p.Arg700Ser) | |
| 3 | g.37050648T>A | CA352069906 | MLH1 | c.2266T>A (p.Cys756Ser) c.*1184T>A (p.=) c.*2098T>A (p.=) c.*1377T>A (p.=) c.1543T>A (p.Cys515Ser) n.1210T>A (p.Cys404Ser) n.2054T>A n.1300T>A n.1648T>A c.*2058T>A (p.=) c.1534T>A (p.Cys512Ser) c.*2406T>A (p.=) c.*2144T>A (p.=) c.*495T>A (p.=) n.977T>A c.1972T>A (p.Cys658Ser) n.2034T>A c.2059T>A (p.Cys687Ser) c.1243T>A (p.Cys415Ser) c.1192T>A (p.Cys398Ser) c.2173T>A (p.Cys725Ser) c.2167T>A (p.Cys723Ser) c.2101T>A (p.Cys701Ser) | |
| 3 | g.37050648T>C | CA352069913 | MLH1 | c.2266T>C (p.Cys756Arg) c.*1184T>C (p.=) c.*2098T>C (p.=) c.*1377T>C (p.=) c.1543T>C (p.Cys515Arg) n.1210T>C (p.Cys404Arg) n.2054T>C n.1300T>C n.1648T>C c.*2058T>C (p.=) c.1534T>C (p.Cys512Arg) c.*2406T>C (p.=) c.*2144T>C (p.=) c.*495T>C (p.=) n.977T>C c.1972T>C (p.Cys658Arg) n.2034T>C c.2059T>C (p.Cys687Arg) c.1243T>C (p.Cys415Arg) c.1192T>C (p.Cys398Arg) c.2173T>C (p.Cys725Arg) c.2167T>C (p.Cys723Arg) c.2101T>C (p.Cys701Arg) | |
| 3 | g.37050648T>G | CA034051 | MLH1 | c.2266T>G (p.Cys756Gly) c.*1184T>G (p.=) c.*2098T>G (p.=) c.*1377T>G (p.=) c.1543T>G (p.Cys515Gly) n.1210T>G (p.Cys404Gly) n.2054T>G n.1300T>G n.1648T>G c.*2058T>G (p.=) c.1534T>G (p.Cys512Gly) c.*2406T>G (p.=) c.*2144T>G (p.=) c.*495T>G (p.=) n.977T>G c.1972T>G (p.Cys658Gly) n.2034T>G c.2059T>G (p.Cys687Gly) c.1243T>G (p.Cys415Gly) c.1192T>G (p.Cys398Gly) c.2173T>G (p.Cys725Gly) c.2167T>G (p.Cys723Gly) c.2101T>G (p.Cys701Gly) | ClinVar dbSNP ExAC gnomAD |
| 3 | g.37050648T= | CA1357891851 | MLH1 | c.2266T= (p.Cys756=) c.*1184T= (p.=) c.*2098T= (p.=) c.*1377T= (p.=) c.1543T= (p.Cys515=) n.1210T= (p.Cys404=) n.2054T= n.1300T= n.1648T= c.*2058T= (p.=) c.1534T= (p.Cys512=) c.*2406T= (p.=) c.*2144T= (p.=) c.*495T= (p.=) n.977T= c.1972T= (p.Cys658=) n.2034T= c.2059T= (p.Cys687=) c.1243T= (p.Cys415=) c.1192T= (p.Cys398=) c.2173T= (p.Cys725=) c.2167T= (p.Cys723=) c.2101T= (p.Cys701=) | |
| 3 | g.37050648_37050651dup | CA248502 | MLH1 | c.2266_2269dup (p.Ter757LeuextTer?) c.*1184_*1187dup (p.=) c.*2098_*2101dup (p.=) c.*1377_*1380dup (p.=) c.1543_1546dup (p.Ter516LeuextTer?) n.1210_1213dup (p.Ter405LeuextTer?) n.2054_2057dup n.1300_1303dup n.1648_1651dup c.*2058_*2061dup (p.=) c.1534_1537dup (p.Ter513LeuextTer?) c.*2406_*2409dup (p.=) c.*2144_*2147dup (p.=) c.*495_*498dup (p.=) n.977_980dup c.1972_1975dup (p.Ter659LeuextTer?) n.2034_2037dup c.2059_2062dup (p.Ter688LeuextTer?) c.1243_1246dup (p.Ter416LeuextTer?) c.1192_1195dup (p.Ter399LeuextTer?) c.2173_2176dup (p.Ter726LeuextTer?) c.2167_2170dup (p.Ter724LeuextTer?) c.2101_2104dup (p.Ter702LeuextTer?) | ClinVar dbSNP |
| 3 | g.37050649G>A | CA352069916 | MLH1 | c.2267G>A (p.Cys756Tyr) c.*1185G>A (p.=) c.*2099G>A (p.=) c.*1378G>A (p.=) c.1544G>A (p.Cys515Tyr) n.1211G>A (p.Cys404Tyr) n.2055G>A n.1301G>A n.1649G>A c.*2059G>A (p.=) c.1535G>A (p.Cys512Tyr) c.*2407G>A (p.=) c.*2145G>A (p.=) c.*496G>A (p.=) n.978G>A c.1973G>A (p.Cys658Tyr) n.2035G>A c.2060G>A (p.Cys687Tyr) c.1244G>A (p.Cys415Tyr) c.1193G>A (p.Cys398Tyr) c.2174G>A (p.Cys725Tyr) c.2168G>A (p.Cys723Tyr) c.2102G>A (p.Cys701Tyr) | ClinVar |
| 3 | g.37050649G>C | CA352069921 | MLH1 | c.2267G>C (p.Cys756Ser) c.*1185G>C (p.=) c.*2099G>C (p.=) c.*1378G>C (p.=) c.1544G>C (p.Cys515Ser) n.1211G>C (p.Cys404Ser) n.2055G>C n.1301G>C n.1649G>C c.*2059G>C (p.=) c.1535G>C (p.Cys512Ser) c.*2407G>C (p.=) c.*2145G>C (p.=) c.*496G>C (p.=) n.978G>C c.1973G>C (p.Cys658Ser) n.2035G>C c.2060G>C (p.Cys687Ser) c.1244G>C (p.Cys415Ser) c.1193G>C (p.Cys398Ser) c.2174G>C (p.Cys725Ser) c.2168G>C (p.Cys723Ser) c.2102G>C (p.Cys701Ser) | |
| 3 | g.37050649G= | CA1357891852 | MLH1 | c.2267G= (p.Cys756=) c.*1185G= (p.=) c.*2099G= (p.=) c.*1378G= (p.=) c.1544G= (p.Cys515=) n.1211G= (p.Cys404=) n.2055G= n.1301G= n.1649G= c.*2059G= (p.=) c.1535G= (p.Cys512=) c.*2407G= (p.=) c.*2145G= (p.=) c.*496G= (p.=) n.978G= c.1973G= (p.Cys658=) n.2035G= c.2060G= (p.Cys687=) c.1244G= (p.Cys415=) c.1193G= (p.Cys398=) c.2174G= (p.Cys725=) c.2168G= (p.Cys723=) c.2102G= (p.Cys701=) | |
| 3 | g.37050649G>T | CA352069919 | MLH1 | c.2267G>T (p.Cys756Phe) c.*1185G>T (p.=) c.*2099G>T (p.=) c.*1378G>T (p.=) c.1544G>T (p.Cys515Phe) n.1211G>T (p.Cys404Phe) n.2055G>T n.1301G>T n.1649G>T c.*2059G>T (p.=) c.1535G>T (p.Cys512Phe) c.*2407G>T (p.=) c.*2145G>T (p.=) c.*496G>T (p.=) n.978G>T c.1973G>T (p.Cys658Phe) n.2035G>T c.2060G>T (p.Cys687Phe) c.1244G>T (p.Cys415Phe) c.1193G>T (p.Cys398Phe) c.2174G>T (p.Cys725Phe) c.2168G>T (p.Cys723Phe) c.2102G>T (p.Cys701Phe) | |
| 3 | g.37050650T>A | CA352069924 | MLH1 | c.2268T>A (p.Cys756Ter) c.*1186T>A (p.=) c.*2100T>A (p.=) c.*1379T>A (p.=) c.1545T>A (p.Cys515Ter) n.1212T>A (p.Cys404Ter) n.2056T>A n.1302T>A n.1650T>A c.*2060T>A (p.=) c.1536T>A (p.Cys512Ter) c.*2408T>A (p.=) c.*2146T>A (p.=) c.*497T>A (p.=) n.979T>A c.1974T>A (p.Cys658Ter) n.2036T>A c.2061T>A (p.Cys687Ter) c.1245T>A (p.Cys415Ter) c.1194T>A (p.Cys398Ter) c.2175T>A (p.Cys725Ter) c.2169T>A (p.Cys723Ter) c.2103T>A (p.Cys701Ter) | |
| 3 | g.37050650T>C | CA433087052 | MLH1 | c.2268T>C (p.Cys756=) c.*1186T>C (p.=) c.*2100T>C (p.=) c.*1379T>C (p.=) c.1545T>C (p.Cys515=) n.1212T>C (p.Cys404=) n.2056T>C n.1302T>C n.1650T>C c.*2060T>C (p.=) c.1536T>C (p.Cys512=) c.*2408T>C (p.=) c.*2146T>C (p.=) c.*497T>C (p.=) n.979T>C c.1974T>C (p.Cys658=) n.2036T>C c.2061T>C (p.Cys687=) c.1245T>C (p.Cys415=) c.1194T>C (p.Cys398=) c.2175T>C (p.Cys725=) c.2169T>C (p.Cys723=) c.2103T>C (p.Cys701=) | |
| 3 | g.37050650T>G | CA352069928 | MLH1 | c.2268T>G (p.Cys756Trp) c.*1186T>G (p.=) c.*2100T>G (p.=) c.*1379T>G (p.=) c.1545T>G (p.Cys515Trp) n.1212T>G (p.Cys404Trp) n.2056T>G n.1302T>G n.1650T>G c.*2060T>G (p.=) c.1536T>G (p.Cys512Trp) c.*2408T>G (p.=) c.*2146T>G (p.=) c.*497T>G (p.=) n.979T>G c.1974T>G (p.Cys658Trp) n.2036T>G c.2061T>G (p.Cys687Trp) c.1245T>G (p.Cys415Trp) c.1194T>G (p.Cys398Trp) c.2175T>G (p.Cys725Trp) c.2169T>G (p.Cys723Trp) c.2103T>G (p.Cys701Trp) | |
| 3 | g.37050651dup | CA009304 | MLH1 | c.2269dup (p.Ter757LeuextTer?) c.*1187dup (p.=) c.*2101dup (p.=) c.*1380dup (p.=) c.1546dup (p.Ter516LeuextTer?) n.1213dup (p.Ter405LeuextTer?) n.2057dup n.1303dup n.1651dup c.*2061dup (p.=) c.1537dup (p.Ter513LeuextTer?) c.*2409dup (p.=) c.*2147dup (p.=) c.*498dup (p.=) n.980dup c.1975dup (p.Ter659LeuextTer?) n.2037dup c.2062dup (p.Ter688LeuextTer?) c.1246dup (p.Ter416LeuextTer?) c.1195dup (p.Ter399LeuextTer?) c.2176dup (p.Ter726LeuextTer?) c.2170dup (p.Ter724LeuextTer?) c.2104dup (p.Ter702LeuextTer?) | ClinVar dbSNP dbSNP |
| 3 | g.37050651T>A | CA009316 | MLH1 | c.2269T>A (p.Ter757Lys) c.*1187T>A (p.=) c.*2101T>A (p.=) c.*1380T>A (p.=) c.1546T>A (p.Ter516Lys) n.1213T>A (p.Ter405Lys) n.2057T>A n.1303T>A n.1651T>A c.*2061T>A (p.=) c.1537T>A (p.Ter513Lys) c.*2409T>A (p.=) c.*2147T>A (p.=) c.*498T>A (p.=) n.980T>A c.1975T>A (p.Ter659Lys) n.2037T>A c.2062T>A (p.Ter688Lys) c.1246T>A (p.Ter416Lys) c.1195T>A (p.Ter399Lys) c.2176T>A (p.Ter726Lys) c.2170T>A (p.Ter724Lys) c.2104T>A (p.Ter702Lys) | ClinVar dbSNP COSMIC |
| 3 | g.37050651T>C | CA352069932 | MLH1 | c.2269T>C (p.Ter757Gln) c.*1187T>C (p.=) c.*2101T>C (p.=) c.*1380T>C (p.=) c.1546T>C (p.Ter516Gln) n.1213T>C (p.Ter405Gln) n.2057T>C n.1303T>C n.1651T>C c.*2061T>C (p.=) c.1537T>C (p.Ter513Gln) c.*2409T>C (p.=) c.*2147T>C (p.=) c.*498T>C (p.=) n.980T>C c.1975T>C (p.Ter659Gln) n.2037T>C c.2062T>C (p.Ter688Gln) c.1246T>C (p.Ter416Gln) c.1195T>C (p.Ter399Gln) c.2176T>C (p.Ter726Gln) c.2170T>C (p.Ter724Gln) c.2104T>C (p.Ter702Gln) | |
| 3 | g.37050651T>G | CA352069929 | MLH1 | c.2269T>G (p.Ter757Glu) c.*1187T>G (p.=) c.*2101T>G (p.=) c.*1380T>G (p.=) c.1546T>G (p.Ter516Glu) n.1213T>G (p.Ter405Glu) n.2057T>G n.1303T>G n.1651T>G c.*2061T>G (p.=) c.1537T>G (p.Ter513Glu) c.*2409T>G (p.=) c.*2147T>G (p.=) c.*498T>G (p.=) n.980T>G c.1975T>G (p.Ter659Glu) n.2037T>G c.2062T>G (p.Ter688Glu) c.1246T>G (p.Ter416Glu) c.1195T>G (p.Ter399Glu) c.2176T>G (p.Ter726Glu) c.2170T>G (p.Ter724Glu) c.2104T>G (p.Ter702Glu) | |
| 3 | g.37050651T= | CA1357891853 | MLH1 | c.2269T= (p.Ter757=) c.*1187T= (p.=) c.*2101T= (p.=) c.*1380T= (p.=) c.1546T= (p.Ter516=) n.1213T= (p.Ter405=) n.2057T= n.1303T= n.1651T= c.*2061T= (p.=) c.1537T= (p.Ter513=) c.*2409T= (p.=) c.*2147T= (p.=) c.*498T= (p.=) n.980T= c.1975T= (p.Ter659=) n.2037T= c.2062T= (p.Ter688=) c.1246T= (p.Ter416=) c.1195T= (p.Ter399=) c.2176T= (p.Ter726=) c.2170T= (p.Ter724=) c.2104T= (p.Ter702=) | |
| 3 | g.37050652A>C | CA352069934 | MLH1 | c.2270A>C (p.Ter757Ser) c.*1188A>C (p.=) c.*2102A>C (p.=) c.*1381A>C (p.=) c.1547A>C (p.Ter516Ser) n.1214A>C (p.Ter405Ser) n.2058A>C n.1304A>C n.1652A>C c.*2062A>C (p.=) c.1538A>C (p.Ter513Ser) c.*2410A>C (p.=) c.*2148A>C (p.=) c.*499A>C (p.=) n.981A>C c.1976A>C (p.Ter659Ser) n.2038A>C c.2063A>C (p.Ter688Ser) c.1247A>C (p.Ter416Ser) c.1196A>C (p.Ter399Ser) c.2177A>C (p.Ter726Ser) c.2171A>C (p.Ter724Ser) c.2105A>C (p.Ter702Ser) | |
| 3 | g.37050652A>G | CA433087054 | MLH1 | c.2270A>G (p.Ter757=) c.*1188A>G (p.=) c.*2102A>G (p.=) c.*1381A>G (p.=) c.1547A>G (p.Ter516=) n.1214A>G (p.Ter405=) n.2058A>G n.1304A>G n.1652A>G c.*2062A>G (p.=) c.1538A>G (p.Ter513=) c.*2410A>G (p.=) c.*2148A>G (p.=) c.*499A>G (p.=) n.981A>G c.1976A>G (p.Ter659=) n.2038A>G c.2063A>G (p.Ter688=) c.1247A>G (p.Ter416=) c.1196A>G (p.Ter399=) c.2177A>G (p.Ter726=) c.2171A>G (p.Ter724=) c.2105A>G (p.Ter702=) |