Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.46725891_46725900delinsCGCTCCGAAGCA1969071937F2c.592_601delinsCGCTCCGAAG (p.Arg198=)
c.562_571delinsCGCTCCGAAG (p.Arg188=)
n.372_381delinsCGCTCCGAAG
c.544_553delinsCGCTCCGAAG (p.Arg182=)
n.636_645delinsCGCTCCGAAG
n.627_636delinsCGCTCCGAAG
11g.46725897_46725905delCA5967019F2c.598_606del (p.Glu200_Ser202del)
c.568_576del (p.Glu190_Ser192del)
n.378_386del
c.550_558del (p.Glu184_Ser186del)
n.642_650del
n.633_641del
dbSNP ExAC gnomAD
11g.46725897G>ACA090909F2c.598G>A (p.Glu200Lys)
c.568G>A (p.Glu190Lys)
n.378G>A
c.550G>A (p.Glu184Lys)
n.642G>A
n.633G>A
ClinVar dbSNP ExAC gnomAD
11g.46725897G>CCA380264725F2c.598G>C (p.Glu200Gln)
c.568G>C (p.Glu190Gln)
n.378G>C
c.550G>C (p.Glu184Gln)
n.642G>C
n.633G>C
11g.46725897G=CA1969071952F2c.598G= (p.Glu200=)
c.568G= (p.Glu190=)
n.378G=
c.550G= (p.Glu184=)
n.642G=
n.633G=
11g.46725897G>TCA380264724F2c.598G>T (p.Glu200Ter)
c.568G>T (p.Glu190Ter)
n.378G>T
c.550G>T (p.Glu184Ter)
n.642G>T
n.633G>T
11g.46725898A>CCA380264727F2c.599A>C (p.Glu200Ala)
c.569A>C (p.Glu190Ala)
n.379A>C
c.551A>C (p.Glu184Ala)
n.643A>C
n.634A>C
11g.46725898A>GCA380264731F2c.599A>G (p.Glu200Gly)
c.569A>G (p.Glu190Gly)
n.379A>G
c.551A>G (p.Glu184Gly)
n.643A>G
n.634A>G
11g.46725898A>TCA380264729F2c.599A>T (p.Glu200Val)
c.569A>T (p.Glu190Val)
n.379A>T
c.551A>T (p.Glu184Val)
n.643A>T
n.634A>T
11g.46725899A=CA1969071957F2c.600A= (p.Glu200=)
c.570A= (p.Glu190=)
n.380A=
c.552A= (p.Glu184=)
n.644A=
n.635A=
11g.46725899A>CCA380264732F2c.600A>C (p.Glu200Asp)
c.570A>C (p.Glu190Asp)
n.380A>C
c.552A>C (p.Glu184Asp)
n.644A>C
n.635A>C
11g.46725899A>GCA474043415F2c.600A>G (p.Glu200=)
c.570A>G (p.Glu190=)
n.380A>G
c.552A>G (p.Glu184=)
n.644A>G
n.635A>G
11g.46725899A>TCA380264733F2c.600A>T (p.Glu200Asp)
c.570A>T (p.Glu190Asp)
n.380A>T
c.552A>T (p.Glu184Asp)
n.644A>T
n.635A>T
11g.46725900G>ACA380264736F2c.601G>A (p.Gly201Ser)
c.571G>A (p.Gly191Ser)
n.381G>A
c.553G>A (p.Gly185Ser)
n.645G>A
n.636G>A
11g.46725900G>CCA380264737F2c.601G>C (p.Gly201Arg)
c.571G>C (p.Gly191Arg)
n.381G>C
c.553G>C (p.Gly185Arg)
n.645G>C
n.636G>C
11g.46725900G>TCA380264739F2c.601G>T (p.Gly201Cys)
c.571G>T (p.Gly191Cys)
n.381G>T
c.553G>T (p.Gly185Cys)
n.645G>T
n.636G>T
COSMIC
11g.46725901G>ACA380264740F2c.602G>A (p.Gly201Asp)
c.572G>A (p.Gly191Asp)
n.382G>A
c.554G>A (p.Gly185Asp)
n.646G>A
n.637G>A
COSMIC
11g.46725901G>CCA380264741F2c.602G>C (p.Gly201Ala)
c.572G>C (p.Gly191Ala)
n.382G>C
c.554G>C (p.Gly185Ala)
n.646G>C
n.637G>C
11g.46725901G=CA1969071959F2c.602G= (p.Gly201=)
c.572G= (p.Gly191=)
n.382G=
c.554G= (p.Gly185=)
n.646G=
n.637G=
11g.46725901G>TCA380264744F2c.602G>T (p.Gly201Val)
c.572G>T (p.Gly191Val)
n.382G>T
c.554G>T (p.Gly185Val)
n.646G>T
n.637G>T
11g.46725902C>ACA474043432F2c.603C>A (p.Gly201=)
c.573C>A (p.Gly191=)
n.383C>A
c.555C>A (p.Gly185=)
n.647C>A
n.638C>A
11g.46725902C=CA1969071962F2c.603C= (p.Gly201=)
c.573C= (p.Gly191=)
n.383C=
c.555C= (p.Gly185=)
n.647C=
n.638C=
11g.46725902C>GCA474043436F2c.603C>G (p.Gly201=)
c.573C>G (p.Gly191=)
n.383C>G
c.555C>G (p.Gly185=)
n.647C>G
n.638C>G
11g.46725902C>TCA474043435F2c.603C>T (p.Gly201=)
c.573C>T (p.Gly191=)
n.383C>T
c.555C>T (p.Gly185=)
n.647C>T
n.638C>T
gnomAD
11g.46725903T>ACA380264745F2c.604T>A (p.Ser202Thr)
c.574T>A (p.Ser192Thr)
n.384T>A
c.556T>A (p.Ser186Thr)
n.648T>A
n.639T>A
11g.46725903T>CCA380264746F2c.604T>C (p.Ser202Pro)
c.574T>C (p.Ser192Pro)
n.384T>C
c.556T>C (p.Ser186Pro)
n.648T>C
n.639T>C
11g.46725903T>GCA380264747F2c.604T>G (p.Ser202Ala)
c.574T>G (p.Ser192Ala)
n.384T>G
c.556T>G (p.Ser186Ala)
n.648T>G
n.639T>G
11g.46725904C>ACA380264752F2c.605C>A (p.Ser202Tyr)
c.575C>A (p.Ser192Tyr)
n.385C>A
c.557C>A (p.Ser186Tyr)
n.649C>A
n.640C>A
11g.46725904C=CA1969071968F2c.605C= (p.Ser202=)
c.575C= (p.Ser192=)
n.385C=
c.557C= (p.Ser186=)
n.649C=
n.640C=
11g.46725904C>GCA380264751F2c.605C>G (p.Ser202Cys)
c.575C>G (p.Ser192Cys)
n.385C>G
c.557C>G (p.Ser186Cys)
n.649C>G
n.640C>G
11g.46725904C>TCA380264749F2c.605C>T (p.Ser202Phe)
c.575C>T (p.Ser192Phe)
n.385C>T
c.557C>T (p.Ser186Phe)
n.649C>T
n.640C>T
COSMIC
11g.46725905C>ACA474043452F2c.606C>A (p.Ser202=)
c.576C>A (p.Ser192=)
n.386C>A
c.558C>A (p.Ser186=)
n.650C>A
n.641C>A
11g.46725905C=CA1969071970F2c.606C= (p.Ser202=)
c.576C= (p.Ser192=)
n.386C=
c.558C= (p.Ser186=)
n.650C=
n.641C=
11g.46725905C>GCA474043449F2c.606C>G (p.Ser202=)
c.576C>G (p.Ser192=)
n.386C>G
c.558C>G (p.Ser186=)
n.650C>G
n.641C>G
11g.46725905C>TCA5967022F2c.606C>T (p.Ser202=)
c.576C>T (p.Ser192=)
n.386C>T
c.558C>T (p.Ser186=)
n.650C>T
n.641C>T
dbSNP ExAC gnomAD
11g.46725906A=CA1969071973F2c.607A= (p.Ser203=)
c.577A= (p.Ser193=)
n.387A=
c.559A= (p.Ser187=)
n.651A=
n.642A=
11g.46725906A>CCA380264755F2c.607A>C (p.Ser203Arg)
c.577A>C (p.Ser193Arg)
n.387A>C
c.559A>C (p.Ser187Arg)
n.651A>C
n.642A>C
11g.46725906A>GCA380264757F2c.607A>G (p.Ser203Gly)
c.577A>G (p.Ser193Gly)
n.387A>G
c.559A>G (p.Ser187Gly)
n.651A>G
n.642A>G
11g.46725906A>TCA380264758F2c.607A>T (p.Ser203Cys)
c.577A>T (p.Ser193Cys)
n.387A>T
c.559A>T (p.Ser187Cys)
n.651A>T
n.642A>T
11g.46725907G>ACA380264761F2c.608G>A (p.Ser203Asn)
c.578G>A (p.Ser193Asn)
n.388G>A
c.560G>A (p.Ser187Asn)
n.652G>A
n.643G>A
11g.46725907G>CCA380264762F2c.608G>C (p.Ser203Thr)
c.578G>C (p.Ser193Thr)
n.388G>C
c.560G>C (p.Ser187Thr)
n.652G>C
n.643G>C
11g.46725907G=CA1969071976F2c.608G= (p.Ser203=)
c.578G= (p.Ser193=)
n.388G=
c.560G= (p.Ser187=)
n.652G=
n.643G=
11g.46725907G>TCA380264763F2c.608G>T (p.Ser203Ile)
c.578G>T (p.Ser193Ile)
n.388G>T
c.560G>T (p.Ser187Ile)
n.652G>T
n.643G>T
11g.46725908T>ACA380264765F2c.609T>A (p.Ser203Arg)
c.579T>A (p.Ser193Arg)
n.389T>A
c.561T>A (p.Ser187Arg)
n.653T>A
n.644T>A
11g.46725908T>CCA474043465F2c.609T>C (p.Ser203=)
c.579T>C (p.Ser193=)
n.389T>C
c.561T>C (p.Ser187=)
n.653T>C
n.644T>C
11g.46725908T>GCA380264767F2c.609T>G (p.Ser203Arg)
c.579T>G (p.Ser193Arg)
n.389T>G
c.561T>G (p.Ser187Arg)
n.653T>G
n.644T>G
11g.46725909G>ACA380264768F2c.610G>A (p.Val204Met)
c.580G>A (p.Val194Met)
n.390G>A
c.562G>A (p.Val188Met)
n.654G>A
n.645G>A
11g.46725909G>CCA380264770F2c.610G>C (p.Val204Leu)
c.580G>C (p.Val194Leu)
n.390G>C
c.562G>C (p.Val188Leu)
n.654G>C
n.645G>C
11g.46725909G>TCA380264771F2c.610G>T (p.Val204Leu)
c.580G>T (p.Val194Leu)
n.390G>T
c.562G>T (p.Val188Leu)
n.654G>T
n.645G>T
11g.46725910T>ACA380264776F2c.611T>A (p.Val204Glu)
c.581T>A (p.Val194Glu)
n.391T>A
c.563T>A (p.Val188Glu)
n.655T>A
n.646T>A

Number of alleles fetched