Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.116783353G>ACA257000METc.*1287G>A (n.*1287G>A)
c.3736G>A (p.Asp1246Asn)
c.3682G>A (p.Asp1228Asn)
c.2392G>A (p.Asp798Asn)
c.3739G>A (p.Asp1247Asn)
n.3813G>A
ClinVar dbSNP COSMIC
7g.116783353G>CCA16603136METc.*1287G>C (n.*1287G>C)
c.3736G>C (p.Asp1246His)
c.3682G>C (p.Asp1228His)
c.2392G>C (p.Asp798His)
c.3739G>C (p.Asp1247His)
n.3813G>C
ClinVar dbSNP COSMIC
7g.116783353G=CA1737014319METc.*1287G= (n.*1287G=)
c.3736G= (p.Asp1246=)
c.3682G= (p.Asp1228=)
c.2392G= (p.Asp798=)
c.3739G= (p.Asp1247=)
n.3813G=
7g.116783353G>TCA368991564METc.*1287G>T (n.*1287G>T)
c.3736G>T (p.Asp1246Tyr)
c.3682G>T (p.Asp1228Tyr)
c.2392G>T (p.Asp798Tyr)
c.3739G>T (p.Asp1247Tyr)
n.3813G>T
ClinVar dbSNP gnomAD v4
7g.116783354A>CCA368991567METc.*1288A>C (n.*1288A>C)
c.3737A>C (p.Asp1246Ala)
c.3683A>C (p.Asp1228Ala)
c.2393A>C (p.Asp798Ala)
c.3740A>C (p.Asp1247Ala)
n.3814A>C
dbSNP
7g.116783354A>GCA368991569METc.*1288A>G (n.*1288A>G)
c.3737A>G (p.Asp1246Gly)
c.3683A>G (p.Asp1228Gly)
c.2393A>G (p.Asp798Gly)
c.3740A>G (p.Asp1247Gly)
n.3814A>G
7g.116783354A>TCA368991571METc.*1288A>T (n.*1288A>T)
c.3737A>T (p.Asp1246Val)
c.3683A>T (p.Asp1228Val)
c.2393A>T (p.Asp798Val)
c.3740A>T (p.Asp1247Val)
n.3814A>T
dbSNP gnomAD v4 COSMIC
7g.116783355C>ACA368991573METc.*1289C>A (n.*1289C>A)
c.3738C>A (p.Asp1246Glu)
c.3684C>A (p.Asp1228Glu)
c.2394C>A (p.Asp798Glu)
c.3741C>A (p.Asp1247Glu)
n.3815C>A
gnomAD v4
7g.116783355C=CA1737014335METc.*1289C= (n.*1289C=)
c.3738C= (p.Asp1246=)
c.3684C= (p.Asp1228=)
c.2394C= (p.Asp798=)
c.3741C= (p.Asp1247=)
n.3815C=
7g.116783355C>GCA368991575METc.*1289C>G (n.*1289C>G)
c.3738C>G (p.Asp1246Glu)
c.3684C>G (p.Asp1228Glu)
c.2394C>G (p.Asp798Glu)
c.3741C>G (p.Asp1247Glu)
n.3815C>G
ClinVar dbSNP
7g.116783355C>TCA189668METc.*1289C>T (n.*1289C>T)
c.3738C>T (p.Asp1246=)
c.3684C>T (p.Asp1228=)
c.2394C>T (p.Asp798=)
c.3741C>T (p.Asp1247=)
n.3815C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.116783356A=CA1737014360METc.*1290A= (n.*1290A=)
c.3739A= (p.Met1247=)
c.3685A= (p.Met1229=)
c.2395A= (p.Met799=)
c.3742A= (p.Met1248=)
n.3816A=
7g.116783356A>CCA368991578METc.*1290A>C (n.*1290A>C)
c.3739A>C (p.Met1247Leu)
c.3685A>C (p.Met1229Leu)
c.2395A>C (p.Met799Leu)
c.3742A>C (p.Met1248Leu)
n.3816A>C
7g.116783356A>GCA4448764METc.*1290A>G (n.*1290A>G)
c.3739A>G (p.Met1247Val)
c.3685A>G (p.Met1229Val)
c.2395A>G (p.Met799Val)
c.3742A>G (p.Met1248Val)
n.3816A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.116783356A>TCA368991580METc.*1290A>T (n.*1290A>T)
c.3739A>T (p.Met1247Leu)
c.3685A>T (p.Met1229Leu)
c.2395A>T (p.Met799Leu)
c.3742A>T (p.Met1248Leu)
n.3816A>T
dbSNP
7g.116783357T>ACA368991582METc.*1291T>A (n.*1291T>A)
c.3740T>A (p.Met1247Lys)
c.3686T>A (p.Met1229Lys)
c.2396T>A (p.Met799Lys)
c.3743T>A (p.Met1248Lys)
n.3817T>A
7g.116783357T>CCA368991584METc.*1291T>C (n.*1291T>C)
c.3740T>C (p.Met1247Thr)
c.3686T>C (p.Met1229Thr)
c.2396T>C (p.Met799Thr)
c.3743T>C (p.Met1248Thr)
n.3817T>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.116783357T>GCA368991586METc.*1291T>G (n.*1291T>G)
c.3740T>G (p.Met1247Arg)
c.3686T>G (p.Met1229Arg)
c.2396T>G (p.Met799Arg)
c.3743T>G (p.Met1248Arg)
n.3817T>G
dbSNP
7g.116783357T=CA1737014368METc.*1291T= (n.*1291T=)
c.3740T= (p.Met1247=)
c.3686T= (p.Met1229=)
c.2396T= (p.Met799=)
c.3743T= (p.Met1248=)
n.3817T=
7g.116783358G>ACA368991591METc.*1292G>A (n.*1292G>A)
c.3741G>A (p.Met1247Ile)
c.3687G>A (p.Met1229Ile)
c.2397G>A (p.Met799Ile)
c.3744G>A (p.Met1248Ile)
n.3818G>A
dbSNP gnomAD v4
7g.116783358G>CCA368991590METc.*1292G>C (n.*1292G>C)
c.3741G>C (p.Met1247Ile)
c.3687G>C (p.Met1229Ile)
c.2397G>C (p.Met799Ile)
c.3744G>C (p.Met1248Ile)
n.3818G>C
dbSNP
7g.116783358G=CA1737014376METc.*1292G= (n.*1292G=)
c.3741G= (p.Met1247=)
c.3687G= (p.Met1229=)
c.2397G= (p.Met799=)
c.3744G= (p.Met1248=)
n.3818G=
7g.116783358G>TCA368991588METc.*1292G>T (n.*1292G>T)
c.3741G>T (p.Met1247Ile)
c.3687G>T (p.Met1229Ile)
c.2397G>T (p.Met799Ile)
c.3744G>T (p.Met1248Ile)
n.3818G>T
dbSNP
7g.116783359T>ACA368991593METc.*1293T>A (n.*1293T>A)
c.3742T>A (p.Tyr1248Asn)
c.3688T>A (p.Tyr1230Asn)
c.2398T>A (p.Tyr800Asn)
c.3745T>A (p.Tyr1249Asn)
n.3819T>A
dbSNP
7g.116783359T>CCA241164METc.*1293T>C (n.*1293T>C)
c.3742T>C (p.Tyr1248His)
c.3688T>C (p.Tyr1230His)
c.2398T>C (p.Tyr800His)
c.3745T>C (p.Tyr1249His)
n.3819T>C
ClinVar dbSNP COSMIC
7g.116783359T>GCA368991595METc.*1293T>G (n.*1293T>G)
c.3742T>G (p.Tyr1248Asp)
c.3688T>G (p.Tyr1230Asp)
c.2398T>G (p.Tyr800Asp)
c.3745T>G (p.Tyr1249Asp)
n.3819T>G
ClinVar dbSNP gnomAD v4
7g.116783359T=CA1737014380METc.*1293T= (n.*1293T=)
c.3742T= (p.Tyr1248=)
c.3688T= (p.Tyr1230=)
c.2398T= (p.Tyr800=)
c.3745T= (p.Tyr1249=)
n.3819T=
7g.116783360A=CA1737014383METc.*1294A= (n.*1294A=)
c.3743A= (p.Tyr1248=)
c.3689A= (p.Tyr1230=)
c.2399A= (p.Tyr800=)
c.3746A= (p.Tyr1249=)
n.3820A=
7g.116783360A>CCA368991597METc.*1294A>C (n.*1294A>C)
c.3743A>C (p.Tyr1248Ser)
c.3689A>C (p.Tyr1230Ser)
c.2399A>C (p.Tyr800Ser)
c.3746A>C (p.Tyr1249Ser)
n.3820A>C
7g.116783360A>GCA257003METc.*1294A>G (n.*1294A>G)
c.3743A>G (p.Tyr1248Cys)
c.3689A>G (p.Tyr1230Cys)
c.2399A>G (p.Tyr800Cys)
c.3746A>G (p.Tyr1249Cys)
n.3820A>G
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.116783360A>TCA368991598METc.*1294A>T (n.*1294A>T)
c.3743A>T (p.Tyr1248Phe)
c.3689A>T (p.Tyr1230Phe)
c.2399A>T (p.Tyr800Phe)
c.3746A>T (p.Tyr1249Phe)
n.3820A>T
dbSNP
7g.116783361T>ACA368991600METc.*1295T>A (n.*1295T>A)
c.3744T>A (p.Tyr1248Ter)
c.3690T>A (p.Tyr1230Ter)
c.2400T>A (p.Tyr800Ter)
c.3747T>A (p.Tyr1249Ter)
n.3821T>A
dbSNP
7g.116783361T>CCA457219448METc.*1295T>C (n.*1295T>C)
c.3744T>C (p.Tyr1248=)
c.3690T>C (p.Tyr1230=)
c.2400T>C (p.Tyr800=)
c.3747T>C (p.Tyr1249=)
n.3821T>C
ClinVar dbSNP
7g.116783361T>GCA368991602METc.*1295T>G (n.*1295T>G)
c.3744T>G (p.Tyr1248Ter)
c.3690T>G (p.Tyr1230Ter)
c.2400T>G (p.Tyr800Ter)
c.3747T>G (p.Tyr1249Ter)
n.3821T>G
7g.116783361T=CA1737014392METc.*1295T= (n.*1295T=)
c.3744T= (p.Tyr1248=)
c.3690T= (p.Tyr1230=)
c.2400T= (p.Tyr800=)
c.3747T= (p.Tyr1249=)
n.3821T=
7g.116783362G>ACA368991603METc.*1296G>A (n.*1296G>A)
c.3745G>A (p.Asp1249Asn)
c.3691G>A (p.Asp1231Asn)
c.2401G>A (p.Asp801Asn)
c.3748G>A (p.Asp1250Asn)
n.3822G>A
ClinVar dbSNP gnomAD v4 COSMIC
7g.116783362G>CCA368991604METc.*1296G>C (n.*1296G>C)
c.3745G>C (p.Asp1249His)
c.3691G>C (p.Asp1231His)
c.2401G>C (p.Asp801His)
c.3748G>C (p.Asp1250His)
n.3822G>C
7g.116783362G=CA1737014397METc.*1296G= (n.*1296G=)
c.3745G= (p.Asp1249=)
c.3691G= (p.Asp1231=)
c.2401G= (p.Asp801=)
c.3748G= (p.Asp1250=)
n.3822G=
7g.116783362G>TCA368991606METc.*1296G>T (n.*1296G>T)
c.3745G>T (p.Asp1249Tyr)
c.3691G>T (p.Asp1231Tyr)
c.2401G>T (p.Asp801Tyr)
c.3748G>T (p.Asp1250Tyr)
n.3822G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.116783363A=CA1737014402METc.*1297A= (n.*1297A=)
c.3746A= (p.Asp1249=)
c.3692A= (p.Asp1231=)
c.2402A= (p.Asp801=)
c.3749A= (p.Asp1250=)
n.3823A=
7g.116783363A>CCA368991607METc.*1297A>C (n.*1297A>C)
c.3746A>C (p.Asp1249Ala)
c.3692A>C (p.Asp1231Ala)
c.2402A>C (p.Asp801Ala)
c.3749A>C (p.Asp1250Ala)
n.3823A>C
7g.116783363A>GCA368991608METc.*1297A>G (n.*1297A>G)
c.3746A>G (p.Asp1249Gly)
c.3692A>G (p.Asp1231Gly)
c.2402A>G (p.Asp801Gly)
c.3749A>G (p.Asp1250Gly)
n.3823A>G
ClinVar gnomAD v4
7g.116783363A>TCA368991609METc.*1297A>T (n.*1297A>T)
c.3746A>T (p.Asp1249Val)
c.3692A>T (p.Asp1231Val)
c.2402A>T (p.Asp801Val)
c.3749A>T (p.Asp1250Val)
n.3823A>T
ClinVar dbSNP gnomAD v4
7g.116783364T>ACA368991611METc.*1298T>A (n.*1298T>A)
c.3747T>A (p.Asp1249Glu)
c.3693T>A (p.Asp1231Glu)
c.2403T>A (p.Asp801Glu)
c.3750T>A (p.Asp1250Glu)
n.3824T>A
7g.116783364T>CCA457219451METc.*1298T>C (n.*1298T>C)
c.3747T>C (p.Asp1249=)
c.3693T>C (p.Asp1231=)
c.2403T>C (p.Asp801=)
c.3750T>C (p.Asp1250=)
n.3824T>C
gnomAD v4
7g.116783364T>GCA368991613METc.*1298T>G (n.*1298T>G)
c.3747T>G (p.Asp1249Glu)
c.3693T>G (p.Asp1231Glu)
c.2403T>G (p.Asp801Glu)
c.3750T>G (p.Asp1250Glu)
n.3824T>G
7g.116783365A>CCA368991617METc.*1299A>C (n.*1299A>C)
c.3748A>C (p.Lys1250Gln)
c.3694A>C (p.Lys1232Gln)
c.2404A>C (p.Lys802Gln)
c.3751A>C (p.Lys1251Gln)
n.3825A>C
7g.116783365A>GCA368991616METc.*1299A>G (n.*1299A>G)
c.3748A>G (p.Lys1250Glu)
c.3694A>G (p.Lys1232Glu)
c.2404A>G (p.Lys802Glu)
c.3751A>G (p.Lys1251Glu)
n.3825A>G
7g.116783365A>TCA368991615METc.*1299A>T (n.*1299A>T)
c.3748A>T (p.Lys1250Ter)
c.3694A>T (p.Lys1232Ter)
c.2404A>T (p.Lys802Ter)
c.3751A>T (p.Lys1251Ter)
n.3825A>T
7g.116783366A>CCA368991620METc.*1300A>C (n.*1300A>C)
c.3749A>C (p.Lys1250Thr)
c.3695A>C (p.Lys1232Thr)
c.2405A>C (p.Lys802Thr)
c.3752A>C (p.Lys1251Thr)
n.3826A>C

Number of alleles fetched