Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.5982885C>ACA366737971PMS2c.2113G>T (p.Glu705Ter)
c.1708G>T (p.Glu570Ter)
c.*1512G>T (p.=)
n.1795G>T (p.Glu599Ter)
n.910G>T (p.Glu304Ter)
n.1678+4202G>T
c.1795G>T (p.Glu599Ter)
n.83G>T
n.2195G>T
c.2107G>T (p.Glu703Ter)
c.1180G>T (p.Glu394Ter)
c.2158G>T (p.Glu720Ter)
c.2002G>T (p.Glu668Ter)
c.1957G>T (p.Glu653Ter)
c.1552G>T (p.Glu518Ter)
c.1540G>T (p.Glu514Ter)
c.1804G>T (p.Glu602Ter)
n.2200G>T
ClinVar
7g.5982885C=CA1685217355PMS2c.2113G= (p.Glu705=)
c.1708G= (p.Glu570=)
c.*1512G= (p.=)
n.1795G= (p.Glu599=)
n.910G= (p.Glu304=)
n.1678+4202G=
c.1795G= (p.Glu599=)
n.83G=
n.2195G=
c.2107G= (p.Glu703=)
c.1180G= (p.Glu394=)
c.2158G= (p.Glu720=)
c.2002G= (p.Glu668=)
c.1957G= (p.Glu653=)
c.1552G= (p.Glu518=)
c.1540G= (p.Glu514=)
c.1804G= (p.Glu602=)
n.2200G=
7g.5982885C>GCA366737970PMS2c.2113G>C (p.Glu705Gln)
c.1708G>C (p.Glu570Gln)
c.*1512G>C (p.=)
n.1795G>C (p.Glu599Gln)
n.910G>C (p.Glu304Gln)
n.1678+4202G>C
c.1795G>C (p.Glu599Gln)
n.83G>C
n.2195G>C
c.2107G>C (p.Glu703Gln)
c.1180G>C (p.Glu394Gln)
c.2158G>C (p.Glu720Gln)
c.2002G>C (p.Glu668Gln)
c.1957G>C (p.Glu653Gln)
c.1552G>C (p.Glu518Gln)
c.1540G>C (p.Glu514Gln)
c.1804G>C (p.Glu602Gln)
n.2200G>C
7g.5982885C>TCA010854PMS2c.2113G>A (p.Glu705Lys)
c.1708G>A (p.Glu570Lys)
c.*1512G>A (p.=)
n.1795G>A (p.Glu599Lys)
n.910G>A (p.Glu304Lys)
n.1678+4202G>A
c.1795G>A (p.Glu599Lys)
n.83G>A
n.2195G>A
c.2107G>A (p.Glu703Lys)
c.1180G>A (p.Glu394Lys)
c.2158G>A (p.Glu720Lys)
c.2002G>A (p.Glu668Lys)
c.1957G>A (p.Glu653Lys)
c.1552G>A (p.Glu518Lys)
c.1540G>A (p.Glu514Lys)
c.1804G>A (p.Glu602Lys)
n.2200G>A
ClinVar dbSNP ExAC gnomAD
7g.5982886G>ACA010846PMS2c.2112C>T (p.Asp704=)
c.1707C>T (p.Asp569=)
c.*1511C>T (p.=)
n.1794C>T (p.Asp598=)
n.909C>T (p.Asp303=)
n.1678+4201C>T
c.1794C>T (p.Asp598=)
n.82C>T
n.2194C>T
c.2106C>T (p.Asp702=)
c.1179C>T (p.Asp393=)
c.2157C>T (p.Asp719=)
c.2001C>T (p.Asp667=)
c.1956C>T (p.Asp652=)
c.1551C>T (p.Asp517=)
c.1539C>T (p.Asp513=)
c.1803C>T (p.Asp601=)
n.2199C>T
ClinVar dbSNP ExAC gnomAD
7g.5982886G>CCA366737972PMS2c.2112C>G (p.Asp704Glu)
c.1707C>G (p.Asp569Glu)
c.*1511C>G (p.=)
n.1794C>G (p.Asp598Glu)
n.909C>G (p.Asp303Glu)
n.1678+4201C>G
c.1794C>G (p.Asp598Glu)
n.82C>G
n.2194C>G
c.2106C>G (p.Asp702Glu)
c.1179C>G (p.Asp393Glu)
c.2157C>G (p.Asp719Glu)
c.2001C>G (p.Asp667Glu)
c.1956C>G (p.Asp652Glu)
c.1551C>G (p.Asp517Glu)
c.1539C>G (p.Asp513Glu)
c.1803C>G (p.Asp601Glu)
n.2199C>G
7g.5982886G=CA1685217397PMS2c.2112C= (p.Asp704=)
c.1707C= (p.Asp569=)
c.*1511C= (p.=)
n.1794C= (p.Asp598=)
n.909C= (p.Asp303=)
n.1678+4201C=
c.1794C= (p.Asp598=)
n.82C=
n.2194C=
c.2106C= (p.Asp702=)
c.1179C= (p.Asp393=)
c.2157C= (p.Asp719=)
c.2001C= (p.Asp667=)
c.1956C= (p.Asp652=)
c.1551C= (p.Asp517=)
c.1539C= (p.Asp513=)
c.1803C= (p.Asp601=)
n.2199C=
7g.5982886G>TCA366737973PMS2c.2112C>A (p.Asp704Glu)
c.1707C>A (p.Asp569Glu)
c.*1511C>A (p.=)
n.1794C>A (p.Asp598Glu)
n.909C>A (p.Asp303Glu)
n.1678+4201C>A
c.1794C>A (p.Asp598Glu)
n.82C>A
n.2194C>A
c.2106C>A (p.Asp702Glu)
c.1179C>A (p.Asp393Glu)
c.2157C>A (p.Asp719Glu)
c.2001C>A (p.Asp667Glu)
c.1956C>A (p.Asp652Glu)
c.1551C>A (p.Asp517Glu)
c.1539C>A (p.Asp513Glu)
c.1803C>A (p.Asp601Glu)
n.2199C>A
ClinVar
7g.5982887T>ACA366737974PMS2c.2111A>T (p.Asp704Val)
c.1706A>T (p.Asp569Val)
c.*1510A>T (p.=)
n.1793A>T (p.Asp598Val)
n.908A>T (p.Asp303Val)
n.1678+4200A>T
c.1793A>T (p.Asp598Val)
n.81A>T
n.2193A>T
c.2105A>T (p.Asp702Val)
c.1178A>T (p.Asp393Val)
c.2156A>T (p.Asp719Val)
c.2000A>T (p.Asp667Val)
c.1955A>T (p.Asp652Val)
c.1550A>T (p.Asp517Val)
c.1538A>T (p.Asp513Val)
c.1802A>T (p.Asp601Val)
n.2198A>T
7g.5982887T>CCA366737975PMS2c.2111A>G (p.Asp704Gly)
c.1706A>G (p.Asp569Gly)
c.*1510A>G (p.=)
n.1793A>G (p.Asp598Gly)
n.908A>G (p.Asp303Gly)
n.1678+4200A>G
c.1793A>G (p.Asp598Gly)
n.81A>G
n.2193A>G
c.2105A>G (p.Asp702Gly)
c.1178A>G (p.Asp393Gly)
c.2156A>G (p.Asp719Gly)
c.2000A>G (p.Asp667Gly)
c.1955A>G (p.Asp652Gly)
c.1550A>G (p.Asp517Gly)
c.1538A>G (p.Asp513Gly)
c.1802A>G (p.Asp601Gly)
n.2198A>G
7g.5982887T>GCA366737976PMS2c.2111A>C (p.Asp704Ala)
c.1706A>C (p.Asp569Ala)
c.*1510A>C (p.=)
n.1793A>C (p.Asp598Ala)
n.908A>C (p.Asp303Ala)
n.1678+4200A>C
c.1793A>C (p.Asp598Ala)
n.81A>C
n.2193A>C
c.2105A>C (p.Asp702Ala)
c.1178A>C (p.Asp393Ala)
c.2156A>C (p.Asp719Ala)
c.2000A>C (p.Asp667Ala)
c.1955A>C (p.Asp652Ala)
c.1550A>C (p.Asp517Ala)
c.1538A>C (p.Asp513Ala)
c.1802A>C (p.Asp601Ala)
n.2198A>C
7g.5982888C>ACA366737979PMS2c.2110G>T (p.Asp704Tyr)
c.1705G>T (p.Asp569Tyr)
c.*1509G>T (p.=)
n.1792G>T (p.Asp598Tyr)
n.907G>T (p.Asp303Tyr)
n.1678+4199G>T
c.1792G>T (p.Asp598Tyr)
n.80G>T
n.2192G>T
c.2104G>T (p.Asp702Tyr)
c.1177G>T (p.Asp393Tyr)
c.2155G>T (p.Asp719Tyr)
c.1999G>T (p.Asp667Tyr)
c.1954G>T (p.Asp652Tyr)
c.1549G>T (p.Asp517Tyr)
c.1537G>T (p.Asp513Tyr)
c.1801G>T (p.Asp601Tyr)
n.2197G>T
7g.5982888C>GCA366737977PMS2c.2110G>C (p.Asp704His)
c.1705G>C (p.Asp569His)
c.*1509G>C (p.=)
n.1792G>C (p.Asp598His)
n.907G>C (p.Asp303His)
n.1678+4199G>C
c.1792G>C (p.Asp598His)
n.80G>C
n.2192G>C
c.2104G>C (p.Asp702His)
c.1177G>C (p.Asp393His)
c.2155G>C (p.Asp719His)
c.1999G>C (p.Asp667His)
c.1954G>C (p.Asp652His)
c.1549G>C (p.Asp517His)
c.1537G>C (p.Asp513His)
c.1801G>C (p.Asp601His)
n.2197G>C
7g.5982888C>TCA366737978PMS2c.2110G>A (p.Asp704Asn)
c.1705G>A (p.Asp569Asn)
c.*1509G>A (p.=)
n.1792G>A (p.Asp598Asn)
n.907G>A (p.Asp303Asn)
n.1678+4199G>A
c.1792G>A (p.Asp598Asn)
n.80G>A
n.2192G>A
c.2104G>A (p.Asp702Asn)
c.1177G>A (p.Asp393Asn)
c.2155G>A (p.Asp719Asn)
c.1999G>A (p.Asp667Asn)
c.1954G>A (p.Asp652Asn)
c.1549G>A (p.Asp517Asn)
c.1537G>A (p.Asp513Asn)
c.1801G>A (p.Asp601Asn)
n.2197G>A
7g.5982889C>ACA453643219PMS2c.2109G>T (p.Thr703=)
c.1704G>T (p.Thr568=)
c.*1508G>T (p.=)
n.1791G>T (p.Thr597=)
n.906G>T (p.Thr302=)
n.1678+4198G>T
c.1791G>T (p.Thr597=)
n.79G>T
n.2191G>T
c.2103G>T (p.Thr701=)
c.1176G>T (p.Thr392=)
c.2154G>T (p.Thr718=)
c.1998G>T (p.Thr666=)
c.1953G>T (p.Thr651=)
c.1548G>T (p.Thr516=)
c.1536G>T (p.Thr512=)
c.1800G>T (p.Thr600=)
n.2196G>T
7g.5982889C=CA1685217411PMS2c.2109G= (p.Thr703=)
c.1704G= (p.Thr568=)
c.*1508G= (p.=)
n.1791G= (p.Thr597=)
n.906G= (p.Thr302=)
n.1678+4198G=
c.1791G= (p.Thr597=)
n.79G=
n.2191G=
c.2103G= (p.Thr701=)
c.1176G= (p.Thr392=)
c.2154G= (p.Thr718=)
c.1998G= (p.Thr666=)
c.1953G= (p.Thr651=)
c.1548G= (p.Thr516=)
c.1536G= (p.Thr512=)
c.1800G= (p.Thr600=)
n.2196G=
7g.5982889C>GCA046622PMS2c.2109G>C (p.Thr703=)
c.1704G>C (p.Thr568=)
c.*1508G>C (p.=)
n.1791G>C (p.Thr597=)
n.906G>C (p.Thr302=)
n.1678+4198G>C
c.1791G>C (p.Thr597=)
n.79G>C
n.2191G>C
c.2103G>C (p.Thr701=)
c.1176G>C (p.Thr392=)
c.2154G>C (p.Thr718=)
c.1998G>C (p.Thr666=)
c.1953G>C (p.Thr651=)
c.1548G>C (p.Thr516=)
c.1536G>C (p.Thr512=)
c.1800G>C (p.Thr600=)
n.2196G>C
ClinVar dbSNP ExAC gnomAD
7g.5982889C>TCA010838PMS2c.2109G>A (p.Thr703=)
c.1704G>A (p.Thr568=)
c.*1508G>A (p.=)
n.1791G>A (p.Thr597=)
n.906G>A (p.Thr302=)
n.1678+4198G>A
c.1791G>A (p.Thr597=)
n.79G>A
n.2191G>A
c.2103G>A (p.Thr701=)
c.1176G>A (p.Thr392=)
c.2154G>A (p.Thr718=)
c.1998G>A (p.Thr666=)
c.1953G>A (p.Thr651=)
c.1548G>A (p.Thr516=)
c.1536G>A (p.Thr512=)
c.1800G>A (p.Thr600=)
n.2196G>A
ClinVar dbSNP gnomAD
7g.5982890G>ACA010829PMS2c.2108C>T (p.Thr703Met)
c.1703C>T (p.Thr568Met)
c.*1507C>T (p.=)
n.1790C>T (p.Thr597Met)
n.905C>T (p.Thr302Met)
n.1678+4197C>T
c.1790C>T (p.Thr597Met)
n.78C>T
n.2190C>T
c.2102C>T (p.Thr701Met)
c.1175C>T (p.Thr392Met)
c.2153C>T (p.Thr718Met)
c.1997C>T (p.Thr666Met)
c.1952C>T (p.Thr651Met)
c.1547C>T (p.Thr516Met)
c.1535C>T (p.Thr512Met)
c.1799C>T (p.Thr600Met)
n.2195C>T
ClinVar dbSNP ExAC gnomAD
7g.5982890G>CCA366737980PMS2c.2108C>G (p.Thr703Arg)
c.1703C>G (p.Thr568Arg)
c.*1507C>G (p.=)
n.1790C>G (p.Thr597Arg)
n.905C>G (p.Thr302Arg)
n.1678+4197C>G
c.1790C>G (p.Thr597Arg)
n.78C>G
n.2190C>G
c.2102C>G (p.Thr701Arg)
c.1175C>G (p.Thr392Arg)
c.2153C>G (p.Thr718Arg)
c.1997C>G (p.Thr666Arg)
c.1952C>G (p.Thr651Arg)
c.1547C>G (p.Thr516Arg)
c.1535C>G (p.Thr512Arg)
c.1799C>G (p.Thr600Arg)
n.2195C>G
7g.5982890G=CA1685217428PMS2c.2108C= (p.Thr703=)
c.1703C= (p.Thr568=)
c.*1507C= (p.=)
n.1790C= (p.Thr597=)
n.905C= (p.Thr302=)
n.1678+4197C=
c.1790C= (p.Thr597=)
n.78C=
n.2190C=
c.2102C= (p.Thr701=)
c.1175C= (p.Thr392=)
c.2153C= (p.Thr718=)
c.1997C= (p.Thr666=)
c.1952C= (p.Thr651=)
c.1547C= (p.Thr516=)
c.1535C= (p.Thr512=)
c.1799C= (p.Thr600=)
n.2195C=
7g.5982890G>TCA16618491PMS2c.2108C>A (p.Thr703Lys)
c.1703C>A (p.Thr568Lys)
c.*1507C>A (p.=)
n.1790C>A (p.Thr597Lys)
n.905C>A (p.Thr302Lys)
n.1678+4197C>A
c.1790C>A (p.Thr597Lys)
n.78C>A
n.2190C>A
c.2102C>A (p.Thr701Lys)
c.1175C>A (p.Thr392Lys)
c.2153C>A (p.Thr718Lys)
c.1997C>A (p.Thr666Lys)
c.1952C>A (p.Thr651Lys)
c.1547C>A (p.Thr516Lys)
c.1535C>A (p.Thr512Lys)
c.1799C>A (p.Thr600Lys)
n.2195C>A
ClinVar
7g.5982891T>ACA366737981PMS2c.2107A>T (p.Thr703Ser)
c.1702A>T (p.Thr568Ser)
c.*1506A>T (p.=)
n.1789A>T (p.Thr597Ser)
n.904A>T (p.Thr302Ser)
n.1678+4196A>T
c.1789A>T (p.Thr597Ser)
n.77A>T
n.2189A>T
c.2101A>T (p.Thr701Ser)
c.1174A>T (p.Thr392Ser)
c.2152A>T (p.Thr718Ser)
c.1996A>T (p.Thr666Ser)
c.1951A>T (p.Thr651Ser)
c.1546A>T (p.Thr516Ser)
c.1534A>T (p.Thr512Ser)
c.1798A>T (p.Thr600Ser)
n.2194A>T
7g.5982891T>CCA366737982PMS2c.2107A>G (p.Thr703Ala)
c.1702A>G (p.Thr568Ala)
c.*1506A>G (p.=)
n.1789A>G (p.Thr597Ala)
n.904A>G (p.Thr302Ala)
n.1678+4196A>G
c.1789A>G (p.Thr597Ala)
n.77A>G
n.2189A>G
c.2101A>G (p.Thr701Ala)
c.1174A>G (p.Thr392Ala)
c.2152A>G (p.Thr718Ala)
c.1996A>G (p.Thr666Ala)
c.1951A>G (p.Thr651Ala)
c.1546A>G (p.Thr516Ala)
c.1534A>G (p.Thr512Ala)
c.1798A>G (p.Thr600Ala)
n.2194A>G
7g.5982891T>GCA366737983PMS2c.2107A>C (p.Thr703Pro)
c.1702A>C (p.Thr568Pro)
c.*1506A>C (p.=)
n.1789A>C (p.Thr597Pro)
n.904A>C (p.Thr302Pro)
n.1678+4196A>C
c.1789A>C (p.Thr597Pro)
n.77A>C
n.2189A>C
c.2101A>C (p.Thr701Pro)
c.1174A>C (p.Thr392Pro)
c.2152A>C (p.Thr718Pro)
c.1996A>C (p.Thr666Pro)
c.1951A>C (p.Thr651Pro)
c.1546A>C (p.Thr516Pro)
c.1534A>C (p.Thr512Pro)
c.1798A>C (p.Thr600Pro)
n.2194A>C
7g.5982892G>ACA010818PMS2c.2106C>T (p.Ala702=)
c.1701C>T (p.Ala567=)
c.*1505C>T (p.=)
n.1788C>T (p.Ala596=)
n.903C>T (p.Ala301=)
n.1678+4195C>T
c.1788C>T (p.Ala596=)
n.76C>T
n.2188C>T
c.2100C>T (p.Ala700=)
c.1173C>T (p.Ala391=)
c.2151C>T (p.Ala717=)
c.1995C>T (p.Ala665=)
c.1950C>T (p.Ala650=)
c.1545C>T (p.Ala515=)
c.1533C>T (p.Ala511=)
c.1797C>T (p.Ala599=)
n.2193C>T
ClinVar dbSNP
7g.5982892G>CCA453643230PMS2c.2106C>G (p.Ala702=)
c.1701C>G (p.Ala567=)
c.*1505C>G (p.=)
n.1788C>G (p.Ala596=)
n.903C>G (p.Ala301=)
n.1678+4195C>G
c.1788C>G (p.Ala596=)
n.76C>G
n.2188C>G
c.2100C>G (p.Ala700=)
c.1173C>G (p.Ala391=)
c.2151C>G (p.Ala717=)
c.1995C>G (p.Ala665=)
c.1950C>G (p.Ala650=)
c.1545C>G (p.Ala515=)
c.1533C>G (p.Ala511=)
c.1797C>G (p.Ala599=)
n.2193C>G
7g.5982892G=CA1685217443PMS2c.2106C= (p.Ala702=)
c.1701C= (p.Ala567=)
c.*1505C= (p.=)
n.1788C= (p.Ala596=)
n.903C= (p.Ala301=)
n.1678+4195C=
c.1788C= (p.Ala596=)
n.76C=
n.2188C=
c.2100C= (p.Ala700=)
c.1173C= (p.Ala391=)
c.2151C= (p.Ala717=)
c.1995C= (p.Ala665=)
c.1950C= (p.Ala650=)
c.1545C= (p.Ala515=)
c.1533C= (p.Ala511=)
c.1797C= (p.Ala599=)
n.2193C=
7g.5982892G>TCA453643232PMS2c.2106C>A (p.Ala702=)
c.1701C>A (p.Ala567=)
c.*1505C>A (p.=)
n.1788C>A (p.Ala596=)
n.903C>A (p.Ala301=)
n.1678+4195C>A
c.1788C>A (p.Ala596=)
n.76C>A
n.2188C>A
c.2100C>A (p.Ala700=)
c.1173C>A (p.Ala391=)
c.2151C>A (p.Ala717=)
c.1995C>A (p.Ala665=)
c.1950C>A (p.Ala650=)
c.1545C>A (p.Ala515=)
c.1533C>A (p.Ala511=)
c.1797C>A (p.Ala599=)
n.2193C>A
ClinVar
7g.5982893G>ACA366737984PMS2c.2105C>T (p.Ala702Val)
c.1700C>T (p.Ala567Val)
c.*1504C>T (p.=)
n.1787C>T (p.Ala596Val)
n.902C>T (p.Ala301Val)
n.1678+4194C>T
c.1787C>T (p.Ala596Val)
n.75C>T
n.2187C>T
c.2099C>T (p.Ala700Val)
c.1172C>T (p.Ala391Val)
c.2150C>T (p.Ala717Val)
c.1994C>T (p.Ala665Val)
c.1949C>T (p.Ala650Val)
c.1544C>T (p.Ala515Val)
c.1532C>T (p.Ala511Val)
c.1796C>T (p.Ala599Val)
n.2192C>T
COSMIC
7g.5982893G>CCA366737985PMS2c.2105C>G (p.Ala702Gly)
c.1700C>G (p.Ala567Gly)
c.*1504C>G (p.=)
n.1787C>G (p.Ala596Gly)
n.902C>G (p.Ala301Gly)
n.1678+4194C>G
c.1787C>G (p.Ala596Gly)
n.75C>G
n.2187C>G
c.2099C>G (p.Ala700Gly)
c.1172C>G (p.Ala391Gly)
c.2150C>G (p.Ala717Gly)
c.1994C>G (p.Ala665Gly)
c.1949C>G (p.Ala650Gly)
c.1544C>G (p.Ala515Gly)
c.1532C>G (p.Ala511Gly)
c.1796C>G (p.Ala599Gly)
n.2192C>G
7g.5982893G>TCA366737986PMS2c.2105C>A (p.Ala702Asp)
c.1700C>A (p.Ala567Asp)
c.*1504C>A (p.=)
n.1787C>A (p.Ala596Asp)
n.902C>A (p.Ala301Asp)
n.1678+4194C>A
c.1787C>A (p.Ala596Asp)
n.75C>A
n.2187C>A
c.2099C>A (p.Ala700Asp)
c.1172C>A (p.Ala391Asp)
c.2150C>A (p.Ala717Asp)
c.1994C>A (p.Ala665Asp)
c.1949C>A (p.Ala650Asp)
c.1544C>A (p.Ala515Asp)
c.1532C>A (p.Ala511Asp)
c.1796C>A (p.Ala599Asp)
n.2192C>A
COSMIC
7g.5982894C>ACA366737987PMS2c.2104G>T (p.Ala702Ser)
c.1699G>T (p.Ala567Ser)
c.*1503G>T (p.=)
n.1786G>T (p.Ala596Ser)
n.901G>T (p.Ala301Ser)
n.1678+4193G>T
c.1786G>T (p.Ala596Ser)
n.74G>T
n.2186G>T
c.2098G>T (p.Ala700Ser)
c.1171G>T (p.Ala391Ser)
c.2149G>T (p.Ala717Ser)
c.1993G>T (p.Ala665Ser)
c.1948G>T (p.Ala650Ser)
c.1543G>T (p.Ala515Ser)
c.1531G>T (p.Ala511Ser)
c.1795G>T (p.Ala599Ser)
n.2191G>T
ClinVar
7g.5982894C=CA1685217453PMS2c.2104G= (p.Ala702=)
c.1699G= (p.Ala567=)
c.*1503G= (p.=)
n.1786G= (p.Ala596=)
n.901G= (p.Ala301=)
n.1678+4193G=
c.1786G= (p.Ala596=)
n.74G=
n.2186G=
c.2098G= (p.Ala700=)
c.1171G= (p.Ala391=)
c.2149G= (p.Ala717=)
c.1993G= (p.Ala665=)
c.1948G= (p.Ala650=)
c.1543G= (p.Ala515=)
c.1531G= (p.Ala511=)
c.1795G= (p.Ala599=)
n.2191G=
7g.5982894C>GCA366737989PMS2c.2104G>C (p.Ala702Pro)
c.1699G>C (p.Ala567Pro)
c.*1503G>C (p.=)
n.1786G>C (p.Ala596Pro)
n.901G>C (p.Ala301Pro)
n.1678+4193G>C
c.1786G>C (p.Ala596Pro)
n.74G>C
n.2186G>C
c.2098G>C (p.Ala700Pro)
c.1171G>C (p.Ala391Pro)
c.2149G>C (p.Ala717Pro)
c.1993G>C (p.Ala665Pro)
c.1948G>C (p.Ala650Pro)
c.1543G>C (p.Ala515Pro)
c.1531G>C (p.Ala511Pro)
c.1795G>C (p.Ala599Pro)
n.2191G>C
7g.5982894C>TCA366737988PMS2c.2104G>A (p.Ala702Thr)
c.1699G>A (p.Ala567Thr)
c.*1503G>A (p.=)
n.1786G>A (p.Ala596Thr)
n.901G>A (p.Ala301Thr)
n.1678+4193G>A
c.1786G>A (p.Ala596Thr)
n.74G>A
n.2186G>A
c.2098G>A (p.Ala700Thr)
c.1171G>A (p.Ala391Thr)
c.2149G>A (p.Ala717Thr)
c.1993G>A (p.Ala665Thr)
c.1948G>A (p.Ala650Thr)
c.1543G>A (p.Ala515Thr)
c.1531G>A (p.Ala511Thr)
c.1795G>A (p.Ala599Thr)
n.2191G>A
ClinVar
7g.5982895A=CA1685217461PMS2c.2103T= (p.His701=)
c.1698T= (p.His566=)
c.*1502T= (p.=)
n.1785T= (p.His595=)
n.900T= (p.His300=)
n.1678+4192T=
c.1785T= (p.His595=)
n.73T=
n.2185T=
c.2097T= (p.His699=)
c.1170T= (p.His390=)
c.2148T= (p.His716=)
c.1992T= (p.His664=)
c.1947T= (p.His649=)
c.1542T= (p.His514=)
c.1530T= (p.His510=)
c.1794T= (p.His598=)
n.2190T=
7g.5982895A>CCA366737990PMS2c.2103T>G (p.His701Gln)
c.1698T>G (p.His566Gln)
c.*1502T>G (p.=)
n.1785T>G (p.His595Gln)
n.900T>G (p.His300Gln)
n.1678+4192T>G
c.1785T>G (p.His595Gln)
n.73T>G
n.2185T>G
c.2097T>G (p.His699Gln)
c.1170T>G (p.His390Gln)
c.2148T>G (p.His716Gln)
c.1992T>G (p.His664Gln)
c.1947T>G (p.His649Gln)
c.1542T>G (p.His514Gln)
c.1530T>G (p.His510Gln)
c.1794T>G (p.His598Gln)
n.2190T>G
7g.5982895A>GCA453643248PMS2c.2103T>C (p.His701=)
c.1698T>C (p.His566=)
c.*1502T>C (p.=)
n.1785T>C (p.His595=)
n.900T>C (p.His300=)
n.1678+4192T>C
c.1785T>C (p.His595=)
n.73T>C
n.2185T>C
c.2097T>C (p.His699=)
c.1170T>C (p.His390=)
c.2148T>C (p.His716=)
c.1992T>C (p.His664=)
c.1947T>C (p.His649=)
c.1542T>C (p.His514=)
c.1530T>C (p.His510=)
c.1794T>C (p.His598=)
n.2190T>C
ClinVar
7g.5982895A>TCA366737991PMS2c.2103T>A (p.His701Gln)
c.1698T>A (p.His566Gln)
c.*1502T>A (p.=)
n.1785T>A (p.His595Gln)
n.900T>A (p.His300Gln)
n.1678+4192T>A
c.1785T>A (p.His595Gln)
n.73T>A
n.2185T>A
c.2097T>A (p.His699Gln)
c.1170T>A (p.His390Gln)
c.2148T>A (p.His716Gln)
c.1992T>A (p.His664Gln)
c.1947T>A (p.His649Gln)
c.1542T>A (p.His514Gln)
c.1530T>A (p.His510Gln)
c.1794T>A (p.His598Gln)
n.2190T>A
7g.5982896T>ACA366737992PMS2c.2102A>T (p.His701Leu)
c.1697A>T (p.His566Leu)
c.*1501A>T (p.=)
n.1784A>T (p.His595Leu)
n.899A>T (p.His300Leu)
n.1678+4191A>T
c.1784A>T (p.His595Leu)
n.72A>T
n.2184A>T
c.2096A>T (p.His699Leu)
c.1169A>T (p.His390Leu)
c.2147A>T (p.His716Leu)
c.1991A>T (p.His664Leu)
c.1946A>T (p.His649Leu)
c.1541A>T (p.His514Leu)
c.1529A>T (p.His510Leu)
c.1793A>T (p.His598Leu)
n.2189A>T
7g.5982896T>CCA366737993PMS2c.2102A>G (p.His701Arg)
c.1697A>G (p.His566Arg)
c.*1501A>G (p.=)
n.1784A>G (p.His595Arg)
n.899A>G (p.His300Arg)
n.1678+4191A>G
c.1784A>G (p.His595Arg)
n.72A>G
n.2184A>G
c.2096A>G (p.His699Arg)
c.1169A>G (p.His390Arg)
c.2147A>G (p.His716Arg)
c.1991A>G (p.His664Arg)
c.1946A>G (p.His649Arg)
c.1541A>G (p.His514Arg)
c.1529A>G (p.His510Arg)
c.1793A>G (p.His598Arg)
n.2189A>G
7g.5982896T>GCA366737994PMS2c.2102A>C (p.His701Pro)
c.1697A>C (p.His566Pro)
c.*1501A>C (p.=)
n.1784A>C (p.His595Pro)
n.899A>C (p.His300Pro)
n.1678+4191A>C
c.1784A>C (p.His595Pro)
n.72A>C
n.2184A>C
c.2096A>C (p.His699Pro)
c.1169A>C (p.His390Pro)
c.2147A>C (p.His716Pro)
c.1991A>C (p.His664Pro)
c.1946A>C (p.His649Pro)
c.1541A>C (p.His514Pro)
c.1529A>C (p.His510Pro)
c.1793A>C (p.His598Pro)
n.2189A>C
ClinVar
7g.5982896T=CA1685217472PMS2c.2102A= (p.His701=)
c.1697A= (p.His566=)
c.*1501A= (p.=)
n.1784A= (p.His595=)
n.899A= (p.His300=)
n.1678+4191A=
c.1784A= (p.His595=)
n.72A=
n.2184A=
c.2096A= (p.His699=)
c.1169A= (p.His390=)
c.2147A= (p.His716=)
c.1991A= (p.His664=)
c.1946A= (p.His649=)
c.1541A= (p.His514=)
c.1529A= (p.His510=)
c.1793A= (p.His598=)
n.2189A=
7g.5982897G>ACA046594PMS2c.2101C>T (p.His701Tyr)
c.1696C>T (p.His566Tyr)
c.*1500C>T (p.=)
n.1783C>T (p.His595Tyr)
n.898C>T (p.His300Tyr)
n.1678+4190C>T
c.1783C>T (p.His595Tyr)
n.71C>T
n.2183C>T
c.2095C>T (p.His699Tyr)
c.1168C>T (p.His390Tyr)
c.2146C>T (p.His716Tyr)
c.1990C>T (p.His664Tyr)
c.1945C>T (p.His649Tyr)
c.1540C>T (p.His514Tyr)
c.1528C>T (p.His510Tyr)
c.1792C>T (p.His598Tyr)
n.2188C>T
ClinVar dbSNP ExAC gnomAD
7g.5982897G>CCA366737995PMS2c.2101C>G (p.His701Asp)
c.1696C>G (p.His566Asp)
c.*1500C>G (p.=)
n.1783C>G (p.His595Asp)
n.898C>G (p.His300Asp)
n.1678+4190C>G
c.1783C>G (p.His595Asp)
n.71C>G
n.2183C>G
c.2095C>G (p.His699Asp)
c.1168C>G (p.His390Asp)
c.2146C>G (p.His716Asp)
c.1990C>G (p.His664Asp)
c.1945C>G (p.His649Asp)
c.1540C>G (p.His514Asp)
c.1528C>G (p.His510Asp)
c.1792C>G (p.His598Asp)
n.2188C>G
7g.5982897G=CA1685217480PMS2c.2101C= (p.His701=)
c.1696C= (p.His566=)
c.*1500C= (p.=)
n.1783C= (p.His595=)
n.898C= (p.His300=)
n.1678+4190C=
c.1783C= (p.His595=)
n.71C=
n.2183C=
c.2095C= (p.His699=)
c.1168C= (p.His390=)
c.2146C= (p.His716=)
c.1990C= (p.His664=)
c.1945C= (p.His649=)
c.1540C= (p.His514=)
c.1528C= (p.His510=)
c.1792C= (p.His598=)
n.2188C=
7g.5982897G>TCA366737996PMS2c.2101C>A (p.His701Asn)
c.1696C>A (p.His566Asn)
c.*1500C>A (p.=)
n.1783C>A (p.His595Asn)
n.898C>A (p.His300Asn)
n.1678+4190C>A
c.1783C>A (p.His595Asn)
n.71C>A
n.2183C>A
c.2095C>A (p.His699Asn)
c.1168C>A (p.His390Asn)
c.2146C>A (p.His716Asn)
c.1990C>A (p.His664Asn)
c.1945C>A (p.His649Asn)
c.1540C>A (p.His514Asn)
c.1528C>A (p.His510Asn)
c.1792C>A (p.His598Asn)
n.2188C>A
7g.5982898C>ACA366737997PMS2c.2100G>T (p.Gln700His)
c.1695G>T (p.Gln565His)
c.*1499G>T (p.=)
n.1782G>T (p.Gln594His)
n.897G>T (p.Gln299His)
n.1678+4189G>T
c.1782G>T (p.Gln594His)
n.70G>T
n.2182G>T
c.2094G>T (p.Gln698His)
c.1167G>T (p.Gln389His)
c.2145G>T (p.Gln715His)
c.1989G>T (p.Gln663His)
c.1944G>T (p.Gln648His)
c.1539G>T (p.Gln513His)
c.1527G>T (p.Gln509His)
c.1791G>T (p.Gln597His)
n.2187G>T
7g.5982898C=CA1685217487PMS2c.2100G= (p.Gln700=)
c.1695G= (p.Gln565=)
c.*1499G= (p.=)
n.1782G= (p.Gln594=)
n.897G= (p.Gln299=)
n.1678+4189G=
c.1782G= (p.Gln594=)
n.70G=
n.2182G=
c.2094G= (p.Gln698=)
c.1167G= (p.Gln389=)
c.2145G= (p.Gln715=)
c.1989G= (p.Gln663=)
c.1944G= (p.Gln648=)
c.1539G= (p.Gln513=)
c.1527G= (p.Gln509=)
c.1791G= (p.Gln597=)
n.2187G=

Number of alleles fetched