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.47799360T>ACA426121116MSH6c.1377T>A (p.Ser459=)
c.987T>A (p.Ser329=)
c.1080T>A (p.Ser360=)
c.169+8835A>T (p.=)
c.*124+8634A>T (p.=)
c.*724T>A (p.=)
c.471T>A (p.Ser157=)
c.1374T>A (p.Ser458=)
c.-1720T>A (p.=)
c.1194T>A (p.Ser398=)
2g.47799360T>CCA426121114MSH6c.1377T>C (p.Ser459=)
c.987T>C (p.Ser329=)
c.1080T>C (p.Ser360=)
c.169+8835A>G (p.=)
c.*124+8634A>G (p.=)
c.*724T>C (p.=)
c.471T>C (p.Ser157=)
c.1374T>C (p.Ser458=)
c.-1720T>C (p.=)
c.1194T>C (p.Ser398=)
2g.47799360T>GCA426121113MSH6c.1377T>G (p.Ser459=)
c.987T>G (p.Ser329=)
c.1080T>G (p.Ser360=)
c.169+8835A>C (p.=)
c.*124+8634A>C (p.=)
c.*724T>G (p.=)
c.471T>G (p.Ser157=)
c.1374T>G (p.Ser458=)
c.-1720T>G (p.=)
c.1194T>G (p.Ser398=)
2g.47799361G>ACA346744965MSH6c.1378G>A (p.Gly460Ser)
c.988G>A (p.Gly330Ser)
c.1081G>A (p.Gly361Ser)
c.169+8834C>T (p.=)
c.*124+8633C>T (p.=)
c.*725G>A (p.=)
c.472G>A (p.Gly158Ser)
c.1375G>A (p.Gly459Ser)
c.-1719G>A (p.=)
c.1195G>A (p.Gly399Ser)
ClinVar
2g.47799361G>CCA067556MSH6c.1378G>C (p.Gly460Arg)
c.988G>C (p.Gly330Arg)
c.1081G>C (p.Gly361Arg)
c.169+8834C>G (p.=)
c.*124+8633C>G (p.=)
c.*725G>C (p.=)
c.472G>C (p.Gly158Arg)
c.1375G>C (p.Gly459Arg)
c.-1719G>C (p.=)
c.1195G>C (p.Gly399Arg)
dbSNP ExAC gnomAD
2g.47799361G=CA2496048638MSH6c.1378G= (p.Gly460=)
c.988G= (p.Gly330=)
c.1081G= (p.Gly361=)
c.169+8834C= (p.=)
c.*124+8633C= (p.=)
c.*725G= (p.=)
c.472G= (p.Gly158=)
c.1375G= (p.Gly459=)
c.-1719G= (p.=)
c.1195G= (p.Gly399=)
2g.47799361G>TCA346744970MSH6c.1378G>T (p.Gly460Cys)
c.988G>T (p.Gly330Cys)
c.1081G>T (p.Gly361Cys)
c.169+8834C>A (p.=)
c.*124+8633C>A (p.=)
c.*725G>T (p.=)
c.472G>T (p.Gly158Cys)
c.1375G>T (p.Gly459Cys)
c.-1719G>T (p.=)
c.1195G>T (p.Gly399Cys)
2g.47799362G>ACA346744976MSH6c.1379G>A (p.Gly460Asp)
c.989G>A (p.Gly330Asp)
c.1082G>A (p.Gly361Asp)
c.169+8833C>T (p.=)
c.*124+8632C>T (p.=)
c.*726G>A (p.=)
c.473G>A (p.Gly158Asp)
c.1376G>A (p.Gly459Asp)
c.-1718G>A (p.=)
c.1196G>A (p.Gly399Asp)
ClinVar
2g.47799362G>CCA346744981MSH6c.1379G>C (p.Gly460Ala)
c.989G>C (p.Gly330Ala)
c.1082G>C (p.Gly361Ala)
c.169+8833C>G (p.=)
c.*124+8632C>G (p.=)
c.*726G>C (p.=)
c.473G>C (p.Gly158Ala)
c.1376G>C (p.Gly459Ala)
c.-1718G>C (p.=)
c.1196G>C (p.Gly399Ala)
2g.47799362G=CA2496048639MSH6c.1379G= (p.Gly460=)
c.989G= (p.Gly330=)
c.1082G= (p.Gly361=)
c.169+8833C= (p.=)
c.*124+8632C= (p.=)
c.*726G= (p.=)
c.473G= (p.Gly158=)
c.1376G= (p.Gly459=)
c.-1718G= (p.=)
c.1196G= (p.Gly399=)
2g.47799362G>TCA346744990MSH6c.1379G>T (p.Gly460Val)
c.989G>T (p.Gly330Val)
c.1082G>T (p.Gly361Val)
c.169+8833C>A (p.=)
c.*124+8632C>A (p.=)
c.*726G>T (p.=)
c.473G>T (p.Gly158Val)
c.1376G>T (p.Gly459Val)
c.-1718G>T (p.=)
c.1196G>T (p.Gly399Val)
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)
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)

Number of alleles fetched