Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.47795896_47805709delCA658655622MSH6c.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
2g.47799363C>ACA426121120MSH6c.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=)
2g.47799363C=CA2496048640MSH6c.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=)
2g.47799363C>GCA426121123MSH6c.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
2g.47799363C>TCA426121122MSH6c.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=)
2g.47799364T>ACA346744993MSH6c.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)
2g.47799364T>CCA346744995MSH6c.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)
2g.47799364T>GCA346744997MSH6c.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)
2g.47799366dupCA658655753MSH6c.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
2g.47799365T>ACA346745001MSH6c.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)
2g.47799365T>CCA346745004MSH6c.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
2g.47799365T>GCA16617651MSH6c.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
2g.47799365T=CA2496048641MSH6c.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=)
2g.47799366T>ACA346745009MSH6c.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)
2g.47799366T>CCA426121124MSH6c.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
2g.47799366T>GCA346745012MSH6c.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)
2g.47799366T=CA2496048642MSH6c.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=)
2g.47799367C>ACA10578068MSH6c.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
2g.47799367C=CA2496048643MSH6c.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=)
2g.47799367C>GCA346745020MSH6c.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
2g.47799367C>TCA346745022MSH6c.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
2g.47799368C>ACA346745048MSH6c.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)
2g.47799368C=CA2496048644MSH6c.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=)
2g.47799368C>GCA346745045MSH6c.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)
2g.47799368C>TCA346745042MSH6c.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
2g.47799369T>ACA426121130MSH6c.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=)
2g.47799369T>CCA008560MSH6c.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
2g.47799369T>GCA426121131MSH6c.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
2g.47799369T=CA2496048645MSH6c.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=)
2g.47799370G>ACA346745060MSH6c.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)
2g.47799370G>CCA346745062MSH6c.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)
2g.47799370G=CA2496048646MSH6c.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=)
2g.47799370G>TCA350847MSH6c.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
2g.47799371A>CCA346745067MSH6c.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)
2g.47799371A>GCA346745072MSH6c.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)
2g.47799371A>TCA346745074MSH6c.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)
2g.47799372A>CCA346745078MSH6c.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)
2g.47799372A>GCA426121133MSH6c.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=)
2g.47799372A>TCA346745077MSH6c.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)
2g.47799373A=CA2496048647MSH6c.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=)
2g.47799373A>CCA346745085MSH6c.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)
2g.47799373A>GCA346745102MSH6c.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)
2g.47799373A>TCA008568MSH6c.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
2g.47799374T>ACA346745108MSH6c.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)
2g.47799374T>CCA346745110MSH6c.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
2g.47799374T>GCA346745115MSH6c.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)
2g.47799374T=CA2496048648MSH6c.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=)
2g.47799375delCA2499216100MSH6c.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
2g.47799375T>ACA426121142MSH6c.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=)
2g.47799375T>CCA426121143MSH6c.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=)

Number of alleles fetched