Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.24240514T>ACA485782333TINF2c.966A>T (p.Ala322=)
c.858A>T (p.Ala286=)
c.861A>T (p.Ala287=)
n.85A>T
c.*338A>T (p.=)
n.758-34A>T
c.*346A>T (p.=)
c.324A>T (p.Ala108=)
14g.24240514T>CCA485782335TINF2c.966A>G (p.Ala322=)
c.858A>G (p.Ala286=)
c.861A>G (p.Ala287=)
n.85A>G
c.*338A>G (p.=)
n.758-34A>G
c.*346A>G (p.=)
c.324A>G (p.Ala108=)
14g.24240514T>GCA485782337TINF2c.966A>C (p.Ala322=)
c.858A>C (p.Ala286=)
c.861A>C (p.Ala287=)
n.85A>C
c.*338A>C (p.=)
n.758-34A>C
c.*346A>C (p.=)
c.324A>C (p.Ala108=)
14g.24240515G>ACA389224140TINF2c.965C>T (p.Ala322Val)
c.857C>T (p.Ala286Val)
c.860C>T (p.Ala287Val)
n.84C>T
c.*337C>T (p.=)
n.758-35C>T
c.*345C>T (p.=)
c.323C>T (p.Ala108Val)
14g.24240515G>CCA389224144TINF2c.965C>G (p.Ala322Gly)
c.857C>G (p.Ala286Gly)
c.860C>G (p.Ala287Gly)
n.84C>G
c.*337C>G (p.=)
n.758-35C>G
c.*345C>G (p.=)
c.323C>G (p.Ala108Gly)
14g.24240515G>TCA389224146TINF2c.965C>A (p.Ala322Glu)
c.857C>A (p.Ala286Glu)
c.860C>A (p.Ala287Glu)
n.84C>A
c.*337C>A (p.=)
n.758-35C>A
c.*345C>A (p.=)
c.323C>A (p.Ala108Glu)
14g.24240516C>ACA389224149TINF2c.964G>T (p.Ala322Ser)
c.856G>T (p.Ala286Ser)
c.859G>T (p.Ala287Ser)
n.83G>T
c.*336G>T (p.=)
n.758-36G>T
c.*344G>T (p.=)
c.322G>T (p.Ala108Ser)
14g.24240516C>GCA389224152TINF2c.964G>C (p.Ala322Pro)
c.856G>C (p.Ala286Pro)
c.859G>C (p.Ala287Pro)
n.83G>C
c.*336G>C (p.=)
n.758-36G>C
c.*344G>C (p.=)
c.322G>C (p.Ala108Pro)
14g.24240516C>TCA389224155TINF2c.964G>A (p.Ala322Thr)
c.856G>A (p.Ala286Thr)
c.859G>A (p.Ala287Thr)
n.83G>A
c.*336G>A (p.=)
n.758-36G>A
c.*344G>A (p.=)
c.322G>A (p.Ala108Thr)
14g.24240517T>ACA389224158TINF2c.963A>T (p.Arg321Ser)
c.855A>T (p.Arg285Ser)
c.858A>T (p.Arg286Ser)
n.82A>T
c.*335A>T (p.=)
n.758-37A>T
c.*343A>T (p.=)
c.321A>T (p.Arg107Ser)
14g.24240517T>CCA485782340TINF2c.963A>G (p.Arg321=)
c.855A>G (p.Arg285=)
c.858A>G (p.Arg286=)
n.82A>G
c.*335A>G (p.=)
n.758-37A>G
c.*343A>G (p.=)
c.321A>G (p.Arg107=)
14g.24240517T>GCA389224162TINF2c.963A>C (p.Arg321Ser)
c.855A>C (p.Arg285Ser)
c.858A>C (p.Arg286Ser)
n.82A>C
c.*335A>C (p.=)
n.758-37A>C
c.*343A>C (p.=)
c.321A>C (p.Arg107Ser)
14g.24240518C>ACA389224174TINF2c.962G>T (p.Arg321Ile)
c.854G>T (p.Arg285Ile)
c.857G>T (p.Arg286Ile)
n.81G>T
c.*334G>T (p.=)
n.758-38G>T
c.*342G>T (p.=)
c.320G>T (p.Arg107Ile)
14g.24240518C=CA2123849240TINF2c.962G= (p.Arg321=)
c.854G= (p.Arg285=)
c.857G= (p.Arg286=)
n.81G=
c.*334G= (p.=)
n.758-38G=
c.*342G= (p.=)
c.320G= (p.Arg107=)
14g.24240518C>GCA389224178TINF2c.962G>C (p.Arg321Thr)
c.854G>C (p.Arg285Thr)
c.857G>C (p.Arg286Thr)
n.81G>C
c.*334G>C (p.=)
n.758-38G>C
c.*342G>C (p.=)
c.320G>C (p.Arg107Thr)
gnomAD
14g.24240518C>TCA389224166TINF2c.962G>A (p.Arg321Lys)
c.854G>A (p.Arg285Lys)
c.857G>A (p.Arg286Lys)
n.81G>A
c.*334G>A (p.=)
n.758-38G>A
c.*342G>A (p.=)
c.320G>A (p.Arg107Lys)
14g.24240519T>ACA389224197TINF2c.961A>T (p.Arg321Ter)
c.853A>T (p.Arg285Ter)
c.856A>T (p.Arg286Ter)
n.80A>T
c.*333A>T (p.=)
n.758-39A>T
c.*341A>T (p.=)
c.319A>T (p.Arg107Ter)
14g.24240519T>CCA389224204TINF2c.961A>G (p.Arg321Gly)
c.853A>G (p.Arg285Gly)
c.856A>G (p.Arg286Gly)
n.80A>G
c.*333A>G (p.=)
n.758-39A>G
c.*341A>G (p.=)
c.319A>G (p.Arg107Gly)
14g.24240519T>GCA485782347TINF2c.961A>C (p.Arg321=)
c.853A>C (p.Arg285=)
c.856A>C (p.Arg286=)
n.80A>C
c.*333A>C (p.=)
n.758-39A>C
c.*341A>C (p.=)
c.319A>C (p.Arg107=)
14g.24240519T=CA2123849242TINF2c.961A= (p.Arg321=)
c.853A= (p.Arg285=)
c.856A= (p.Arg286=)
n.80A=
c.*333A= (p.=)
n.758-39A=
c.*341A= (p.=)
c.319A= (p.Arg107=)
14g.24240520T>ACA485782349TINF2c.960A>T (p.Thr320=)
c.852A>T (p.Thr284=)
c.855A>T (p.Thr285=)
n.79A>T
c.*332A>T (p.=)
n.758-40A>T
c.*340A>T (p.=)
c.318A>T (p.Thr106=)
14g.24240520T>CCA485782351TINF2c.960A>G (p.Thr320=)
c.852A>G (p.Thr284=)
c.855A>G (p.Thr285=)
n.79A>G
c.*332A>G (p.=)
n.758-40A>G
c.*340A>G (p.=)
c.318A>G (p.Thr106=)
14g.24240520T>GCA257880892TINF2c.960A>C (p.Thr320=)
c.852A>C (p.Thr284=)
c.855A>C (p.Thr285=)
n.79A>C
c.*332A>C (p.=)
n.758-40A>C
c.*340A>C (p.=)
c.318A>C (p.Thr106=)
ClinVar dbSNP
14g.24240520T=CA2123849245TINF2c.960A= (p.Thr320=)
c.852A= (p.Thr284=)
c.855A= (p.Thr285=)
n.79A=
c.*332A= (p.=)
n.758-40A=
c.*340A= (p.=)
c.318A= (p.Thr106=)
14g.24240521G>ACA389224212TINF2c.959C>T (p.Thr320Ile)
c.851C>T (p.Thr284Ile)
c.854C>T (p.Thr285Ile)
n.78C>T
c.*331C>T (p.=)
n.758-41C>T
c.*339C>T (p.=)
c.317C>T (p.Thr106Ile)
14g.24240521G>CCA389224219TINF2c.959C>G (p.Thr320Arg)
c.851C>G (p.Thr284Arg)
c.854C>G (p.Thr285Arg)
n.78C>G
c.*331C>G (p.=)
n.758-41C>G
c.*339C>G (p.=)
c.317C>G (p.Thr106Arg)
14g.24240521G>TCA389224223TINF2c.959C>A (p.Thr320Lys)
c.851C>A (p.Thr284Lys)
c.854C>A (p.Thr285Lys)
n.78C>A
c.*331C>A (p.=)
n.758-41C>A
c.*339C>A (p.=)
c.317C>A (p.Thr106Lys)
14g.24240522T>ACA389224233TINF2c.958A>T (p.Thr320Ser)
c.850A>T (p.Thr284Ser)
c.853A>T (p.Thr285Ser)
n.77A>T
c.*330A>T (p.=)
n.758-42A>T
c.*338A>T (p.=)
c.316A>T (p.Thr106Ser)
14g.24240522T>CCA389224230TINF2c.958A>G (p.Thr320Ala)
c.850A>G (p.Thr284Ala)
c.853A>G (p.Thr285Ala)
n.77A>G
c.*330A>G (p.=)
n.758-42A>G
c.*338A>G (p.=)
c.316A>G (p.Thr106Ala)
14g.24240522T>GCA389224228TINF2c.958A>C (p.Thr320Pro)
c.850A>C (p.Thr284Pro)
c.853A>C (p.Thr285Pro)
n.77A>C
c.*330A>C (p.=)
n.758-42A>C
c.*338A>C (p.=)
c.316A>C (p.Thr106Pro)
14g.24240523G>ACA485782359TINF2c.957C>T (p.Gly319=)
c.849C>T (p.Gly283=)
c.852C>T (p.Gly284=)
n.76C>T
c.*329C>T (p.=)
n.758-43C>T
c.*337C>T (p.=)
c.315C>T (p.Gly105=)
14g.24240523G>CCA485782360TINF2c.957C>G (p.Gly319=)
c.849C>G (p.Gly283=)
c.852C>G (p.Gly284=)
n.76C>G
c.*329C>G (p.=)
n.758-43C>G
c.*337C>G (p.=)
c.315C>G (p.Gly105=)
14g.24240523G>TCA485782361TINF2c.957C>A (p.Gly319=)
c.849C>A (p.Gly283=)
c.852C>A (p.Gly284=)
n.76C>A
c.*329C>A (p.=)
n.758-43C>A
c.*337C>A (p.=)
c.315C>A (p.Gly105=)
14g.24240524C>ACA389224239TINF2c.956G>T (p.Gly319Val)
c.848G>T (p.Gly283Val)
c.851G>T (p.Gly284Val)
n.75G>T
c.*328G>T (p.=)
n.758-44G>T
c.*336G>T (p.=)
c.314G>T (p.Gly105Val)
14g.24240524C>GCA389224242TINF2c.956G>C (p.Gly319Ala)
c.848G>C (p.Gly283Ala)
c.851G>C (p.Gly284Ala)
n.75G>C
c.*328G>C (p.=)
n.758-44G>C
c.*336G>C (p.=)
c.314G>C (p.Gly105Ala)
14g.24240524C>TCA389224245TINF2c.956G>A (p.Gly319Asp)
c.848G>A (p.Gly283Asp)
c.851G>A (p.Gly284Asp)
n.75G>A
c.*328G>A (p.=)
n.758-44G>A
c.*336G>A (p.=)
c.314G>A (p.Gly105Asp)
14g.24240525C>ACA389224248TINF2c.955G>T (p.Gly319Cys)
c.847G>T (p.Gly283Cys)
c.850G>T (p.Gly284Cys)
n.74G>T
c.*327G>T (p.=)
n.758-45G>T
c.*335G>T (p.=)
c.313G>T (p.Gly105Cys)
14g.24240525C>GCA389224249TINF2c.955G>C (p.Gly319Arg)
c.847G>C (p.Gly283Arg)
c.850G>C (p.Gly284Arg)
n.74G>C
c.*327G>C (p.=)
n.758-45G>C
c.*335G>C (p.=)
c.313G>C (p.Gly105Arg)
14g.24240525C>TCA389224250TINF2c.955G>A (p.Gly319Ser)
c.847G>A (p.Gly283Ser)
c.850G>A (p.Gly284Ser)
n.74G>A
c.*327G>A (p.=)
n.758-45G>A
c.*335G>A (p.=)
c.313G>A (p.Gly105Ser)
14g.24240526C>ACA389224274TINF2c.954G>T (p.Met318Ile)
c.846G>T (p.Met282Ile)
c.849G>T (p.Met283Ile)
n.73G>T
c.*326G>T (p.=)
n.758-46G>T
c.*334G>T (p.=)
c.312G>T (p.Met104Ile)
14g.24240526C>GCA389224256TINF2c.954G>C (p.Met318Ile)
c.846G>C (p.Met282Ile)
c.849G>C (p.Met283Ile)
n.73G>C
c.*326G>C (p.=)
n.758-46G>C
c.*334G>C (p.=)
c.312G>C (p.Met104Ile)
14g.24240526C>TCA389224264TINF2c.954G>A (p.Met318Ile)
c.846G>A (p.Met282Ile)
c.849G>A (p.Met283Ile)
n.73G>A
c.*326G>A (p.=)
n.758-46G>A
c.*334G>A (p.=)
c.312G>A (p.Met104Ile)
COSMIC COSMIC
14g.24240527A=CA2123849248TINF2c.953T= (p.Met318=)
c.845T= (p.Met282=)
c.848T= (p.Met283=)
n.72T=
c.*325T= (p.=)
n.758-47T=
c.*333T= (p.=)
c.311T= (p.Met104=)
14g.24240527A>CCA389224283TINF2c.953T>G (p.Met318Arg)
c.845T>G (p.Met282Arg)
c.848T>G (p.Met283Arg)
n.72T>G
c.*325T>G (p.=)
n.758-47T>G
c.*333T>G (p.=)
c.311T>G (p.Met104Arg)
14g.24240527A>GCA257880894TINF2c.953T>C (p.Met318Thr)
c.845T>C (p.Met282Thr)
c.848T>C (p.Met283Thr)
n.72T>C
c.*325T>C (p.=)
n.758-47T>C
c.*333T>C (p.=)
c.311T>C (p.Met104Thr)
dbSNP
14g.24240527A>TCA389224296TINF2c.953T>A (p.Met318Lys)
c.845T>A (p.Met282Lys)
c.848T>A (p.Met283Lys)
n.72T>A
c.*325T>A (p.=)
n.758-47T>A
c.*333T>A (p.=)
c.311T>A (p.Met104Lys)
14g.24240527_24240528insCAGCACCA2566004094TINF2c.952_953insGTGCTG (p.Met318delinsSerAlaVal)
c.844_845insGTGCTG (p.Met282delinsSerAlaVal)
c.847_848insGTGCTG (p.Met283delinsSerAlaVal)
n.71_72insGTGCTG
c.*324_*325insGTGCTG (p.=)
n.758-48_758-47insGTGCTG
c.*332_*333insGTGCTG (p.=)
c.310_311insGTGCTG (p.Met104delinsSerAlaVal)
14g.24240528T>ACA389224305TINF2c.952A>T (p.Met318Leu)
c.844A>T (p.Met282Leu)
c.847A>T (p.Met283Leu)
n.71A>T
c.*324A>T (p.=)
n.758-48A>T
c.*332A>T (p.=)
c.310A>T (p.Met104Leu)
14g.24240528T>CCA389224306TINF2c.952A>G (p.Met318Val)
c.844A>G (p.Met282Val)
c.847A>G (p.Met283Val)
n.71A>G
c.*324A>G (p.=)
n.758-48A>G
c.*332A>G (p.=)
c.310A>G (p.Met104Val)
14g.24240528T>GCA389224308TINF2c.952A>C (p.Met318Leu)
c.844A>C (p.Met282Leu)
c.847A>C (p.Met283Leu)
n.71A>C
c.*324A>C (p.=)
n.758-48A>C
c.*332A>C (p.=)
c.310A>C (p.Met104Leu)

Number of alleles fetched