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| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47795896_47805709del | CA658655622 | MSH6 | c.460_3646+2del c.238-2715_3256+2del c.163_3349+2del c.169+2491_170-6451del (p.=) c.*124+2290_*125-6451del (p.=) c.458-2715_*2993+2del c.-443_2740+2del c.-279-2715_2740+2del c.-2637_550+2del c.277_3463+2del | |
| 2 | g.47799363C>A | CA426121120 | MSH6 | c.1380C>A (p.Gly460=) c.990C>A (p.Gly330=) c.1083C>A (p.Gly361=) c.169+8832G>T (p.=) c.*124+8631G>T (p.=) c.*727C>A (p.=) c.474C>A (p.Gly158=) c.1377C>A (p.Gly459=) c.-1717C>A (p.=) c.1197C>A (p.Gly399=) | |
| 2 | g.47799363C= | CA2496048640 | MSH6 | c.1380C= (p.Gly460=) c.990C= (p.Gly330=) c.1083C= (p.Gly361=) c.169+8832G= (p.=) c.*124+8631G= (p.=) c.*727C= (p.=) c.474C= (p.Gly158=) c.1377C= (p.Gly459=) c.-1717C= (p.=) c.1197C= (p.Gly399=) | |
| 2 | g.47799363C>G | CA426121123 | MSH6 | c.1380C>G (p.Gly460=) c.990C>G (p.Gly330=) c.1083C>G (p.Gly361=) c.169+8832G>C (p.=) c.*124+8631G>C (p.=) c.*727C>G (p.=) c.474C>G (p.Gly158=) c.1377C>G (p.Gly459=) c.-1717C>G (p.=) c.1197C>G (p.Gly399=) | ClinVar |
| 2 | g.47799363C>T | CA426121122 | MSH6 | c.1380C>T (p.Gly460=) c.990C>T (p.Gly330=) c.1083C>T (p.Gly361=) c.169+8832G>A (p.=) c.*124+8631G>A (p.=) c.*727C>T (p.=) c.474C>T (p.Gly158=) c.1377C>T (p.Gly459=) c.-1717C>T (p.=) c.1197C>T (p.Gly399=) | |
| 2 | g.47799364T>A | CA346744993 | MSH6 | c.1381T>A (p.Phe461Ile) c.991T>A (p.Phe331Ile) c.1084T>A (p.Phe362Ile) c.169+8831A>T (p.=) c.*124+8630A>T (p.=) c.*728T>A (p.=) c.475T>A (p.Phe159Ile) c.1378T>A (p.Phe460Ile) c.-1716T>A (p.=) c.1198T>A (p.Phe400Ile) | |
| 2 | g.47799364T>C | CA346744995 | MSH6 | c.1381T>C (p.Phe461Leu) c.991T>C (p.Phe331Leu) c.1084T>C (p.Phe362Leu) c.169+8831A>G (p.=) c.*124+8630A>G (p.=) c.*728T>C (p.=) c.475T>C (p.Phe159Leu) c.1378T>C (p.Phe460Leu) c.-1716T>C (p.=) c.1198T>C (p.Phe400Leu) | |
| 2 | g.47799364T>G | CA346744997 | MSH6 | c.1381T>G (p.Phe461Val) c.991T>G (p.Phe331Val) c.1084T>G (p.Phe362Val) c.169+8831A>C (p.=) c.*124+8630A>C (p.=) c.*728T>G (p.=) c.475T>G (p.Phe159Val) c.1378T>G (p.Phe460Val) c.-1716T>G (p.=) c.1198T>G (p.Phe400Val) | |
| 2 | g.47799366dup | CA658655753 | MSH6 | c.1383dup (p.Pro462SerfsTer2) c.993dup (p.Pro332SerfsTer2) c.1086dup (p.Pro363SerfsTer2) c.169+8831dup (p.=) c.*124+8630dup (p.=) c.*730dup (p.=) c.477dup (p.Pro160SerfsTer2) c.1380dup (p.Pro461SerfsTer2) c.-1714dup (p.=) c.1200dup (p.Pro401SerfsTer2) | ClinVar dbSNP |
| 2 | g.47799365T>A | CA346745001 | MSH6 | c.1382T>A (p.Phe461Tyr) c.992T>A (p.Phe331Tyr) c.1085T>A (p.Phe362Tyr) c.169+8830A>T (p.=) c.*124+8629A>T (p.=) c.*729T>A (p.=) c.476T>A (p.Phe159Tyr) c.1379T>A (p.Phe460Tyr) c.-1715T>A (p.=) c.1199T>A (p.Phe400Tyr) | |
| 2 | g.47799365T>C | CA346745004 | MSH6 | c.1382T>C (p.Phe461Ser) c.992T>C (p.Phe331Ser) c.1085T>C (p.Phe362Ser) c.169+8830A>G (p.=) c.*124+8629A>G (p.=) c.*729T>C (p.=) c.476T>C (p.Phe159Ser) c.1379T>C (p.Phe460Ser) c.-1715T>C (p.=) c.1199T>C (p.Phe400Ser) | ClinVar |
| 2 | g.47799365T>G | CA16617651 | MSH6 | c.1382T>G (p.Phe461Cys) c.992T>G (p.Phe331Cys) c.1085T>G (p.Phe362Cys) c.169+8830A>C (p.=) c.*124+8629A>C (p.=) c.*729T>G (p.=) c.476T>G (p.Phe159Cys) c.1379T>G (p.Phe460Cys) c.-1715T>G (p.=) c.1199T>G (p.Phe400Cys) | ClinVar |
| 2 | g.47799365T= | CA2496048641 | MSH6 | c.1382T= (p.Phe461=) c.992T= (p.Phe331=) c.1085T= (p.Phe362=) c.169+8830A= (p.=) c.*124+8629A= (p.=) c.*729T= (p.=) c.476T= (p.Phe159=) c.1379T= (p.Phe460=) c.-1715T= (p.=) c.1199T= (p.Phe400=) | |
| 2 | g.47799366T>A | CA346745009 | MSH6 | c.1383T>A (p.Phe461Leu) c.993T>A (p.Phe331Leu) c.1086T>A (p.Phe362Leu) c.169+8829A>T (p.=) c.*124+8628A>T (p.=) c.*730T>A (p.=) c.477T>A (p.Phe159Leu) c.1380T>A (p.Phe460Leu) c.-1714T>A (p.=) c.1200T>A (p.Phe400Leu) | |
| 2 | g.47799366T>C | CA426121124 | MSH6 | c.1383T>C (p.Phe461=) c.993T>C (p.Phe331=) c.1086T>C (p.Phe362=) c.169+8829A>G (p.=) c.*124+8628A>G (p.=) c.*730T>C (p.=) c.477T>C (p.Phe159=) c.1380T>C (p.Phe460=) c.-1714T>C (p.=) c.1200T>C (p.Phe400=) | ClinVar |
| 2 | g.47799366T>G | CA346745012 | MSH6 | c.1383T>G (p.Phe461Leu) c.993T>G (p.Phe331Leu) c.1086T>G (p.Phe362Leu) c.169+8829A>C (p.=) c.*124+8628A>C (p.=) c.*730T>G (p.=) c.477T>G (p.Phe159Leu) c.1380T>G (p.Phe460Leu) c.-1714T>G (p.=) c.1200T>G (p.Phe400Leu) | |
| 2 | g.47799366T= | CA2496048642 | MSH6 | c.1383T= (p.Phe461=) c.993T= (p.Phe331=) c.1086T= (p.Phe362=) c.169+8829A= (p.=) c.*124+8628A= (p.=) c.*730T= (p.=) c.477T= (p.Phe159=) c.1380T= (p.Phe460=) c.-1714T= (p.=) c.1200T= (p.Phe400=) | |
| 2 | g.47799367C>A | CA10578068 | MSH6 | c.1384C>A (p.Pro462Thr) c.994C>A (p.Pro332Thr) c.1087C>A (p.Pro363Thr) c.169+8828G>T (p.=) c.*124+8627G>T (p.=) c.*731C>A (p.=) c.478C>A (p.Pro160Thr) c.1381C>A (p.Pro461Thr) c.-1713C>A (p.=) c.1201C>A (p.Pro401Thr) | ClinVar dbSNP gnomAD |
| 2 | g.47799367C= | CA2496048643 | MSH6 | c.1384C= (p.Pro462=) c.994C= (p.Pro332=) c.1087C= (p.Pro363=) c.169+8828G= (p.=) c.*124+8627G= (p.=) c.*731C= (p.=) c.478C= (p.Pro160=) c.1381C= (p.Pro461=) c.-1713C= (p.=) c.1201C= (p.Pro401=) | |
| 2 | g.47799367C>G | CA346745020 | MSH6 | c.1384C>G (p.Pro462Ala) c.994C>G (p.Pro332Ala) c.1087C>G (p.Pro363Ala) c.169+8828G>C (p.=) c.*124+8627G>C (p.=) c.*731C>G (p.=) c.478C>G (p.Pro160Ala) c.1381C>G (p.Pro461Ala) c.-1713C>G (p.=) c.1201C>G (p.Pro401Ala) | ClinVar |
| 2 | g.47799367C>T | CA346745022 | MSH6 | c.1384C>T (p.Pro462Ser) c.994C>T (p.Pro332Ser) c.1087C>T (p.Pro363Ser) c.169+8828G>A (p.=) c.*124+8627G>A (p.=) c.*731C>T (p.=) c.478C>T (p.Pro160Ser) c.1381C>T (p.Pro461Ser) c.-1713C>T (p.=) c.1201C>T (p.Pro401Ser) | gnomAD |
| 2 | g.47799368C>A | CA346745048 | MSH6 | c.1385C>A (p.Pro462His) c.995C>A (p.Pro332His) c.1088C>A (p.Pro363His) c.169+8827G>T (p.=) c.*124+8626G>T (p.=) c.*732C>A (p.=) c.479C>A (p.Pro160His) c.1382C>A (p.Pro461His) c.-1712C>A (p.=) c.1202C>A (p.Pro401His) | |
| 2 | g.47799368C= | CA2496048644 | MSH6 | c.1385C= (p.Pro462=) c.995C= (p.Pro332=) c.1088C= (p.Pro363=) c.169+8827G= (p.=) c.*124+8626G= (p.=) c.*732C= (p.=) c.479C= (p.Pro160=) c.1382C= (p.Pro461=) c.-1712C= (p.=) c.1202C= (p.Pro401=) | |
| 2 | g.47799368C>G | CA346745045 | MSH6 | c.1385C>G (p.Pro462Arg) c.995C>G (p.Pro332Arg) c.1088C>G (p.Pro363Arg) c.169+8827G>C (p.=) c.*124+8626G>C (p.=) c.*732C>G (p.=) c.479C>G (p.Pro160Arg) c.1382C>G (p.Pro461Arg) c.-1712C>G (p.=) c.1202C>G (p.Pro401Arg) | |
| 2 | g.47799368C>T | CA346745042 | MSH6 | c.1385C>T (p.Pro462Leu) c.995C>T (p.Pro332Leu) c.1088C>T (p.Pro363Leu) c.169+8827G>A (p.=) c.*124+8626G>A (p.=) c.*732C>T (p.=) c.479C>T (p.Pro160Leu) c.1382C>T (p.Pro461Leu) c.-1712C>T (p.=) c.1202C>T (p.Pro401Leu) | ClinVar |
| 2 | g.47799369T>A | CA426121130 | MSH6 | c.1386T>A (p.Pro462=) c.996T>A (p.Pro332=) c.1089T>A (p.Pro363=) c.169+8826A>T (p.=) c.*124+8625A>T (p.=) c.*733T>A (p.=) c.480T>A (p.Pro160=) c.1383T>A (p.Pro461=) c.-1711T>A (p.=) c.1203T>A (p.Pro401=) | |
| 2 | g.47799369T>C | CA008560 | MSH6 | c.1386T>C (p.Pro462=) c.996T>C (p.Pro332=) c.1089T>C (p.Pro363=) c.169+8826A>G (p.=) c.*124+8625A>G (p.=) c.*733T>C (p.=) c.480T>C (p.Pro160=) c.1383T>C (p.Pro461=) c.-1711T>C (p.=) c.1203T>C (p.Pro401=) | ClinVar dbSNP |
| 2 | g.47799369T>G | CA426121131 | MSH6 | c.1386T>G (p.Pro462=) c.996T>G (p.Pro332=) c.1089T>G (p.Pro363=) c.169+8826A>C (p.=) c.*124+8625A>C (p.=) c.*733T>G (p.=) c.480T>G (p.Pro160=) c.1383T>G (p.Pro461=) c.-1711T>G (p.=) c.1203T>G (p.Pro401=) | gnomAD |
| 2 | g.47799369T= | CA2496048645 | MSH6 | c.1386T= (p.Pro462=) c.996T= (p.Pro332=) c.1089T= (p.Pro363=) c.169+8826A= (p.=) c.*124+8625A= (p.=) c.*733T= (p.=) c.480T= (p.Pro160=) c.1383T= (p.Pro461=) c.-1711T= (p.=) c.1203T= (p.Pro401=) | |
| 2 | g.47799370G>A | CA346745060 | MSH6 | c.1387G>A (p.Glu463Lys) c.997G>A (p.Glu333Lys) c.1090G>A (p.Glu364Lys) c.169+8825C>T (p.=) c.*124+8624C>T (p.=) c.*734G>A (p.=) c.481G>A (p.Glu161Lys) c.1384G>A (p.Glu462Lys) c.-1710G>A (p.=) c.1204G>A (p.Glu402Lys) | |
| 2 | g.47799370G>C | CA346745062 | MSH6 | c.1387G>C (p.Glu463Gln) c.997G>C (p.Glu333Gln) c.1090G>C (p.Glu364Gln) c.169+8825C>G (p.=) c.*124+8624C>G (p.=) c.*734G>C (p.=) c.481G>C (p.Glu161Gln) c.1384G>C (p.Glu462Gln) c.-1710G>C (p.=) c.1204G>C (p.Glu402Gln) | |
| 2 | g.47799370G= | CA2496048646 | MSH6 | c.1387G= (p.Glu463=) c.997G= (p.Glu333=) c.1090G= (p.Glu364=) c.169+8825C= (p.=) c.*124+8624C= (p.=) c.*734G= (p.=) c.481G= (p.Glu161=) c.1384G= (p.Glu462=) c.-1710G= (p.=) c.1204G= (p.Glu402=) | |
| 2 | g.47799370G>T | CA350847 | MSH6 | c.1387G>T (p.Glu463Ter) c.997G>T (p.Glu333Ter) c.1090G>T (p.Glu364Ter) c.169+8825C>A (p.=) c.*124+8624C>A (p.=) c.*734G>T (p.=) c.481G>T (p.Glu161Ter) c.1384G>T (p.Glu462Ter) c.-1710G>T (p.=) c.1204G>T (p.Glu402Ter) | ClinVar dbSNP COSMIC |
| 2 | g.47799371A>C | CA346745067 | MSH6 | c.1388A>C (p.Glu463Ala) c.998A>C (p.Glu333Ala) c.1091A>C (p.Glu364Ala) c.169+8824T>G (p.=) c.*124+8623T>G (p.=) c.*735A>C (p.=) c.482A>C (p.Glu161Ala) c.1385A>C (p.Glu462Ala) c.-1709A>C (p.=) c.1205A>C (p.Glu402Ala) | |
| 2 | g.47799371A>G | CA346745072 | MSH6 | c.1388A>G (p.Glu463Gly) c.998A>G (p.Glu333Gly) c.1091A>G (p.Glu364Gly) c.169+8824T>C (p.=) c.*124+8623T>C (p.=) c.*735A>G (p.=) c.482A>G (p.Glu161Gly) c.1385A>G (p.Glu462Gly) c.-1709A>G (p.=) c.1205A>G (p.Glu402Gly) | |
| 2 | g.47799371A>T | CA346745074 | MSH6 | c.1388A>T (p.Glu463Val) c.998A>T (p.Glu333Val) c.1091A>T (p.Glu364Val) c.169+8824T>A (p.=) c.*124+8623T>A (p.=) c.*735A>T (p.=) c.482A>T (p.Glu161Val) c.1385A>T (p.Glu462Val) c.-1709A>T (p.=) c.1205A>T (p.Glu402Val) | |
| 2 | g.47799372A>C | CA346745078 | MSH6 | c.1389A>C (p.Glu463Asp) c.999A>C (p.Glu333Asp) c.1092A>C (p.Glu364Asp) c.169+8823T>G (p.=) c.*124+8622T>G (p.=) c.*736A>C (p.=) c.483A>C (p.Glu161Asp) c.1386A>C (p.Glu462Asp) c.-1708A>C (p.=) c.1206A>C (p.Glu402Asp) | |
| 2 | g.47799372A>G | CA426121133 | MSH6 | c.1389A>G (p.Glu463=) c.999A>G (p.Glu333=) c.1092A>G (p.Glu364=) c.169+8823T>C (p.=) c.*124+8622T>C (p.=) c.*736A>G (p.=) c.483A>G (p.Glu161=) c.1386A>G (p.Glu462=) c.-1708A>G (p.=) c.1206A>G (p.Glu402=) | |
| 2 | g.47799372A>T | CA346745077 | MSH6 | c.1389A>T (p.Glu463Asp) c.999A>T (p.Glu333Asp) c.1092A>T (p.Glu364Asp) c.169+8823T>A (p.=) c.*124+8622T>A (p.=) c.*736A>T (p.=) c.483A>T (p.Glu161Asp) c.1386A>T (p.Glu462Asp) c.-1708A>T (p.=) c.1206A>T (p.Glu402Asp) | |
| 2 | g.47799373A= | CA2496048647 | MSH6 | c.1390A= (p.Ile464=) c.1000A= (p.Ile334=) c.1093A= (p.Ile365=) c.169+8822T= (p.=) c.*124+8621T= (p.=) c.*737A= (p.=) c.484A= (p.Ile162=) c.1387A= (p.Ile463=) c.-1707A= (p.=) c.1207A= (p.Ile403=) | |
| 2 | g.47799373A>C | CA346745085 | MSH6 | c.1390A>C (p.Ile464Leu) c.1000A>C (p.Ile334Leu) c.1093A>C (p.Ile365Leu) c.169+8822T>G (p.=) c.*124+8621T>G (p.=) c.*737A>C (p.=) c.484A>C (p.Ile162Leu) c.1387A>C (p.Ile463Leu) c.-1707A>C (p.=) c.1207A>C (p.Ile403Leu) | |
| 2 | g.47799373A>G | CA346745102 | MSH6 | c.1390A>G (p.Ile464Val) c.1000A>G (p.Ile334Val) c.1093A>G (p.Ile365Val) c.169+8822T>C (p.=) c.*124+8621T>C (p.=) c.*737A>G (p.=) c.484A>G (p.Ile162Val) c.1387A>G (p.Ile463Val) c.-1707A>G (p.=) c.1207A>G (p.Ile403Val) | |
| 2 | g.47799373A>T | CA008568 | MSH6 | c.1390A>T (p.Ile464Phe) c.1000A>T (p.Ile334Phe) c.1093A>T (p.Ile365Phe) c.169+8822T>A (p.=) c.*124+8621T>A (p.=) c.*737A>T (p.=) c.484A>T (p.Ile162Phe) c.1387A>T (p.Ile463Phe) c.-1707A>T (p.=) c.1207A>T (p.Ile403Phe) | ClinVar dbSNP |
| 2 | g.47799374T>A | CA346745108 | MSH6 | c.1391T>A (p.Ile464Asn) c.1001T>A (p.Ile334Asn) c.1094T>A (p.Ile365Asn) c.169+8821A>T (p.=) c.*124+8620A>T (p.=) c.*738T>A (p.=) c.485T>A (p.Ile162Asn) c.1388T>A (p.Ile463Asn) c.-1706T>A (p.=) c.1208T>A (p.Ile403Asn) | |
| 2 | g.47799374T>C | CA346745110 | MSH6 | c.1391T>C (p.Ile464Thr) c.1001T>C (p.Ile334Thr) c.1094T>C (p.Ile365Thr) c.169+8821A>G (p.=) c.*124+8620A>G (p.=) c.*738T>C (p.=) c.485T>C (p.Ile162Thr) c.1388T>C (p.Ile463Thr) c.-1706T>C (p.=) c.1208T>C (p.Ile403Thr) | ClinVar |
| 2 | g.47799374T>G | CA346745115 | MSH6 | c.1391T>G (p.Ile464Ser) c.1001T>G (p.Ile334Ser) c.1094T>G (p.Ile365Ser) c.169+8821A>C (p.=) c.*124+8620A>C (p.=) c.*738T>G (p.=) c.485T>G (p.Ile162Ser) c.1388T>G (p.Ile463Ser) c.-1706T>G (p.=) c.1208T>G (p.Ile403Ser) | |
| 2 | g.47799374T= | CA2496048648 | MSH6 | c.1391T= (p.Ile464=) c.1001T= (p.Ile334=) c.1094T= (p.Ile365=) c.169+8821A= (p.=) c.*124+8620A= (p.=) c.*738T= (p.=) c.485T= (p.Ile162=) c.1388T= (p.Ile463=) c.-1706T= (p.=) c.1208T= (p.Ile403=) | |
| 2 | g.47799375del | CA2499216100 | MSH6 | c.1392del (p.Ile464MetfsTer17) c.1002del (p.Ile334MetfsTer17) c.1095del (p.Ile365MetfsTer17) c.169+8821del (p.=) c.*124+8620del (p.=) c.*739del (p.=) c.486del (p.Ile162MetfsTer17) c.1389del (p.Ile463MetfsTer17) c.-1705del (p.=) c.1209del (p.Ile403MetfsTer17) | ClinVar |
| 2 | g.47799375T>A | CA426121142 | MSH6 | c.1392T>A (p.Ile464=) c.1002T>A (p.Ile334=) c.1095T>A (p.Ile365=) c.169+8820A>T (p.=) c.*124+8619A>T (p.=) c.*739T>A (p.=) c.486T>A (p.Ile162=) c.1389T>A (p.Ile463=) c.-1705T>A (p.=) c.1209T>A (p.Ile403=) | |
| 2 | g.47799375T>C | CA426121143 | MSH6 | c.1392T>C (p.Ile464=) c.1002T>C (p.Ile334=) c.1095T>C (p.Ile365=) c.169+8820A>G (p.=) c.*124+8619A>G (p.=) c.*739T>C (p.=) c.486T>C (p.Ile162=) c.1389T>C (p.Ile463=) c.-1705T>C (p.=) c.1209T>C (p.Ile403=) |