Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.5997332delCA645560074PMS2c.*299+1781del (n.*299+1781del)
c.799del (p.Tyr267ThrfsTer?)
c.694del (p.Tyr232ThrfsTer?)
c.802del (p.Tyr268ThrfsTer?)
c.*396del (n.*396del)
c.*201del (n.*201del)
c.705+1781del (n.705+1781del)
c.*389del (n.*389del)
c.*59del (n.*59del)
n.874del
c.484del (p.Tyr162ThrfsTer?)
c.397del (p.Tyr133ThrfsTer?)
c.229del (p.Tyr77ThrfsTer?)
c.484del (p.Ter162SerextTer7)
n.915del
c.526+1781del
c.*303del (n.*303del)
c.*254del (n.*254del)
c.*305del (n.*305del)
c.634del (p.Tyr212ThrfsTer?)
n.714del
n.1085del
n.882del
c.*702del (n.*702del)
c.988del (p.Tyr330ThrfsTer?)
c.*251del (n.*251del)
c.*438del (n.*438del)
c.*105-1694del (n.*105-1694del)
n.913del
c.802del (p.Ter268SerextTer7)
c.802del (p.Ter268SerextTer8)
c.706-1694del (n.706-1694del)
c.802del (p.Tyr268IlefsTer19)
n.802del
n.62+8666del
n.884del
c.796del (p.Tyr266ThrfsTer?)
c.847del (p.Tyr283ThrfsTer?)
c.-132del (n.-132del)
c.493del (p.Tyr165ThrfsTer?)
n.889del
c.-32del (n.-32del)
 ClinVar dbSNP gnomAD v4 COSMIC
7g.5997332dupCA331767PMS2c.*299+1781dup (n.*299+1781dup)
c.799dup (p.Tyr267LeufsTer?)
c.694dup (p.Tyr232LeufsTer?)
c.802dup (p.Tyr268LeufsTer?)
c.*396dup (n.*396dup)
c.*201dup (n.*201dup)
c.705+1781dup (n.705+1781dup)
c.*389dup (n.*389dup)
c.*59dup (n.*59dup)
n.874dup
c.484dup (p.Tyr162LeufsTer?)
c.397dup (p.Tyr133LeufsTer?)
c.229dup (p.Tyr77LeufsTer?)
c.484dup (p.Ter162LeuextTer?)
n.915dup
c.526+1781dup
c.*303dup (n.*303dup)
c.*254dup (n.*254dup)
c.*305dup (n.*305dup)
c.634dup (p.Tyr212LeufsTer?)
n.714dup
n.1085dup
n.882dup
c.*702dup (n.*702dup)
c.988dup (p.Tyr330LeufsTer?)
c.*251dup (n.*251dup)
c.*438dup (n.*438dup)
c.*105-1694dup (n.*105-1694dup)
n.913dup
c.802dup (p.Ter268LeuextTer?)
c.706-1694dup (n.706-1694dup)
c.802dup (p.Tyr268LeufsTer2)
n.802dup
n.62+8666dup
n.884dup
c.796dup (p.Tyr266LeufsTer?)
c.847dup (p.Tyr283LeufsTer?)
c.-132dup (n.-132dup)
c.493dup (p.Tyr165LeufsTer?)
n.889dup
c.-32dup (n.-32dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.5997331_5997332delCA1685261257PMS2c.*299+1780_*299+1781del (n.*299+1780_*299+1781del)
c.798_799del (p.Phe266LeufsTer?)
c.693_694del (p.Phe231LeufsTer?)
c.801_802del (p.Phe267LeufsTer?)
c.*395_*396del (n.*395_*396del)
c.*200_*201del (n.*200_*201del)
c.705+1780_705+1781del (n.705+1780_705+1781del)
c.*388_*389del (n.*388_*389del)
c.*58_*59del (n.*58_*59del)
n.873_874del
c.483_484del (p.Phe161LeufsTer?)
c.396_397del (p.Phe132LeufsTer?)
c.228_229del (p.Phe76LeufsTer?)
n.914_915del
c.526+1780_526+1781del
c.*302_*303del (n.*302_*303del)
c.*253_*254del (n.*253_*254del)
c.*304_*305del (n.*304_*305del)
c.633_634del (p.Phe211LeufsTer?)
n.713_714del
n.1084_1085del
n.881_882del
c.*701_*702del (n.*701_*702del)
c.987_988del (p.Phe329LeufsTer?)
c.*250_*251del (n.*250_*251del)
c.*437_*438del (n.*437_*438del)
c.*105-1695_*105-1694del (n.*105-1695_*105-1694del)
n.912_913del
c.706-1695_706-1694del (n.706-1695_706-1694del)
c.801_802del (p.Phe267LeufsTer2)
n.801_802del
n.62+8665_62+8666del
n.883_884del
c.795_796del (p.Phe265LeufsTer?)
c.846_847del (p.Phe282LeufsTer?)
c.-133_-132del (n.-133_-132del)
c.492_493del (p.Phe164LeufsTer?)
n.888_889del
c.-33_-32del (n.-33_-32del)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched