Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.94605455A>CCA374106304FBP1c.985+2T>G (n.985+2T>G)
c.825+2T>G (n.825+2T>G)
c.630+2T>G (n.630+2T>G)
c.579+2T>G (n.579+2T>G)
9g.94605455A>GCA374106305FBP1c.985+2T>C (n.985+2T>C)
c.825+2T>C (n.825+2T>C)
c.630+2T>C (n.630+2T>C)
c.579+2T>C (n.579+2T>C)
gnomAD v4 COSMIC
9g.94605455A>TCA374106306FBP1c.985+2T>A (n.985+2T>A)
c.825+2T>A (n.825+2T>A)
c.630+2T>A (n.630+2T>A)
c.579+2T>A (n.579+2T>A)
9g.94605456C>ACA374106307FBP1c.985+1G>T (n.985+1G>T)
c.825+1G>T (n.825+1G>T)
c.630+1G>T (n.630+1G>T)
c.579+1G>T (n.579+1G>T)
gnomAD v4
9g.94605456C=CA1865226015FBP1c.985+1G= (n.985+1G=)
c.825+1G= (n.825+1G=)
c.630+1G= (n.630+1G=)
c.579+1G= (n.579+1G=)
9g.94605456C>GCA196552431FBP1c.985+1G>C (n.985+1G>C)
c.825+1G>C (n.825+1G>C)
c.630+1G>C (n.630+1G>C)
c.579+1G>C (n.579+1G>C)
dbSNP gnomAD v2 gnomAD v4
9g.94605456C>TCA16609832FBP1c.985+1G>A (n.985+1G>A)
c.825+1G>A (n.825+1G>A)
c.630+1G>A (n.630+1G>A)
c.579+1G>A (n.579+1G>A)
ClinVar dbSNP
9g.94605457C>ACA374106309FBP1c.985G>T (n.985G>T)
c.825G>T (p.Lys275Asn)
c.630G>T (p.Lys210Asn)
c.579G>T (p.Lys193Asn)
9g.94605457C=CA1865226016FBP1c.985G= (n.985G=)
c.825G= (p.Lys275=)
c.630G= (p.Lys210=)
c.579G= (p.Lys193=)
9g.94605457C>GCA374106308FBP1c.985G>C (n.985G>C)
c.825G>C (p.Lys275Asn)
c.630G>C (p.Lys210Asn)
c.579G>C (p.Lys193Asn)
9g.94605457C>TCA466099558FBP1c.985G>A (n.985G>A)
c.825G>A (p.Lys275=)
c.630G>A (p.Lys210=)
c.579G>A (p.Lys193=)
dbSNP gnomAD v2
9g.94605458T>ACA374106310FBP1c.984A>T (n.984A>T)
c.824A>T (p.Lys275Met)
c.629A>T (p.Lys210Met)
c.578A>T (p.Lys193Met)
9g.94605458T>CCA374106311FBP1c.984A>G (n.984A>G)
c.824A>G (p.Lys275Arg)
c.629A>G (p.Lys210Arg)
c.578A>G (p.Lys193Arg)
COSMIC
9g.94605458T>GCA374106312FBP1c.984A>C (n.984A>C)
c.824A>C (p.Lys275Thr)
c.629A>C (p.Lys210Thr)
c.578A>C (p.Lys193Thr)
9g.94605459T>ACA374106313FBP1c.983A>T (n.983A>T)
c.823A>T (p.Lys275Ter)
c.628A>T (p.Lys210Ter)
c.577A>T (p.Lys193Ter)
9g.94605459T>CCA374106314FBP1c.983A>G (n.983A>G)
c.823A>G (p.Lys275Glu)
c.628A>G (p.Lys210Glu)
c.577A>G (p.Lys193Glu)
9g.94605459T>GCA374106315FBP1c.983A>C (n.983A>C)
c.823A>C (p.Lys275Gln)
c.628A>C (p.Lys210Gln)
c.577A>C (p.Lys193Gln)
9g.94605460T>ACA466099573FBP1c.982A>T (n.982A>T)
c.822A>T (p.Gly274=)
c.627A>T (p.Gly209=)
c.576A>T (p.Gly192=)
9g.94605460T>CCA466099572FBP1c.982A>G (n.982A>G)
c.822A>G (p.Gly274=)
c.627A>G (p.Gly209=)
c.576A>G (p.Gly192=)
9g.94605460T>GCA466099571FBP1c.982A>C (n.982A>C)
c.822A>C (p.Gly274=)
c.627A>C (p.Gly209=)
c.576A>C (p.Gly192=)
9g.94605461C>ACA374106316FBP1c.981G>T (n.981G>T)
c.821G>T (p.Gly274Val)
c.626G>T (p.Gly209Val)
c.575G>T (p.Gly192Val)
9g.94605461C>GCA374106317FBP1c.981G>C (n.981G>C)
c.821G>C (p.Gly274Ala)
c.626G>C (p.Gly209Ala)
c.575G>C (p.Gly192Ala)
gnomAD v4
9g.94605461C>TCA374106318FBP1c.981G>A (n.981G>A)
c.821G>A (p.Gly274Glu)
c.626G>A (p.Gly209Glu)
c.575G>A (p.Gly192Glu)
9g.94605462C>ACA374106319FBP1c.980G>T (n.980G>T)
c.820G>T (p.Gly274Ter)
c.625G>T (p.Gly209Ter)
c.574G>T (p.Gly192Ter)
9g.94605462C>GCA374106320FBP1c.980G>C (n.980G>C)
c.820G>C (p.Gly274Arg)
c.625G>C (p.Gly209Arg)
c.574G>C (p.Gly192Arg)
9g.94605462C>TCA374106321FBP1c.980G>A (n.980G>A)
c.820G>A (p.Gly274Arg)
c.625G>A (p.Gly209Arg)
c.574G>A (p.Gly192Arg)
9g.94605463A>CCA374106322FBP1c.979T>G (n.979T>G)
c.819T>G (p.Asn273Lys)
c.624T>G (p.Asn208Lys)
c.573T>G (p.Asn191Lys)
9g.94605463A>GCA466099581FBP1c.979T>C (n.979T>C)
c.819T>C (p.Asn273=)
c.624T>C (p.Asn208=)
c.573T>C (p.Asn191=)
9g.94605463A>TCA374106323FBP1c.979T>A (n.979T>A)
c.819T>A (p.Asn273Lys)
c.624T>A (p.Asn208Lys)
c.573T>A (p.Asn191Lys)
9g.94605464T>ACA374106325FBP1c.978A>T (n.978A>T)
c.818A>T (p.Asn273Ile)
c.623A>T (p.Asn208Ile)
c.572A>T (p.Asn191Ile)
9g.94605464T>CCA5136118FBP1c.978A>G (n.978A>G)
c.818A>G (p.Asn273Ser)
c.623A>G (p.Asn208Ser)
c.572A>G (p.Asn191Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94605464T>GCA374106324FBP1c.978A>C (n.978A>C)
c.818A>C (p.Asn273Thr)
c.623A>C (p.Asn208Thr)
c.572A>C (p.Asn191Thr)
9g.94605464T=CA1865226017FBP1c.978A= (n.978A=)
c.818A= (p.Asn273=)
c.623A= (p.Asn208=)
c.572A= (p.Asn191=)
9g.94605465T>ACA374106326FBP1c.977A>T (n.977A>T)
c.817A>T (p.Asn273Tyr)
c.622A>T (p.Asn208Tyr)
c.571A>T (p.Asn191Tyr)
9g.94605465T>CCA374106327FBP1c.977A>G (n.977A>G)
c.817A>G (p.Asn273Asp)
c.622A>G (p.Asn208Asp)
c.571A>G (p.Asn191Asp)
dbSNP gnomAD v3 gnomAD v4
9g.94605465T>GCA374106328FBP1c.977A>C (n.977A>C)
c.817A>C (p.Asn273His)
c.622A>C (p.Asn208His)
c.571A>C (p.Asn191His)
9g.94605465T=CA1865226018FBP1c.977A= (n.977A=)
c.817A= (p.Asn273=)
c.622A= (p.Asn208=)
c.571A= (p.Asn191=)
9g.94605465_94605466delinsTGCA1865226019FBP1c.976_977delinsCA (n.976_977delinsCA)
c.816_817delinsCA (p.Pro272=)
c.621_622delinsCA (p.Pro207=)
c.570_571delinsCA (p.Pro190=)
9g.94605466G>ACA466099584FBP1c.976C>T (n.976C>T)
c.816C>T (p.Pro272=)
c.621C>T (p.Pro207=)
c.570C>T (p.Pro190=)
dbSNP
9g.94605466G>CCA466099585FBP1c.976C>G (n.976C>G)
c.816C>G (p.Pro272=)
c.621C>G (p.Pro207=)
c.570C>G (p.Pro190=)
9g.94605466G=CA1865226020FBP1c.976C= (n.976C=)
c.816C= (p.Pro272=)
c.621C= (p.Pro207=)
c.570C= (p.Pro190=)
9g.94605466G>TCA466099587FBP1c.976C>A (n.976C>A)
c.816C>A (p.Pro272=)
c.621C>A (p.Pro207=)
c.570C>A (p.Pro190=)
gnomAD v4
9g.94605469delCA918511043FBP1c.976del (n.976del)
c.816del (p.Asn273MetfsTer4)
c.621del (p.Asn208MetfsTer4)
c.570del (p.Asn191MetfsTer4)
dbSNP
9g.94605467G>ACA374106329FBP1c.975C>T (n.975C>T)
c.815C>T (p.Pro272Leu)
c.620C>T (p.Pro207Leu)
c.569C>T (p.Pro190Leu)
9g.94605467G>CCA374106330FBP1c.975C>G (n.975C>G)
c.815C>G (p.Pro272Arg)
c.620C>G (p.Pro207Arg)
c.569C>G (p.Pro190Arg)
9g.94605467G>TCA374106331FBP1c.975C>A (n.975C>A)
c.815C>A (p.Pro272His)
c.620C>A (p.Pro207His)
c.569C>A (p.Pro190His)
9g.94605468G>ACA374106332FBP1c.974C>T (n.974C>T)
c.814C>T (p.Pro272Ser)
c.619C>T (p.Pro207Ser)
c.568C>T (p.Pro190Ser)
COSMIC
9g.94605468G>CCA374106333FBP1c.974C>G (n.974C>G)
c.814C>G (p.Pro272Ala)
c.619C>G (p.Pro207Ala)
c.568C>G (p.Pro190Ala)
gnomAD v4
9g.94605468G>TCA374106334FBP1c.974C>A (n.974C>A)
c.814C>A (p.Pro272Thr)
c.619C>A (p.Pro207Thr)
c.568C>A (p.Pro190Thr)
9g.94605469G>ACA466099596FBP1c.973C>T (n.973C>T)
c.813C>T (p.Ser271=)
c.618C>T (p.Ser206=)
c.567C>T (p.Ser189=)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched