Chr Mutation (hg38) CAid Gene Transcript Linkouts
Yg.12857609C>ACA414986246USP9Yc.7478C>A (p.Pro2493Gln)
n.7505C>A
c.523C>A
n.797C>A
c.7244C>A (p.Pro2415Gln)
c.7493C>A (p.Pro2498Gln)
Yg.12857609C>GCA414986247USP9Yc.7478C>G (p.Pro2493Arg)
n.7505C>G
c.523C>G
n.797C>G
c.7244C>G (p.Pro2415Arg)
c.7493C>G (p.Pro2498Arg)
Yg.12857609C>TCA414986248USP9Yc.7478C>T (p.Pro2493Leu)
n.7505C>T
c.523C>T
n.797C>T
c.7244C>T (p.Pro2415Leu)
c.7493C>T (p.Pro2498Leu)
Yg.12857610A>CCA519874492USP9Yc.7479A>C (p.Pro2493=)
n.7506A>C
c.524A>C
n.798A>C
c.7245A>C (p.Pro2415=)
c.7494A>C (p.Pro2498=)
Yg.12857610A>GCA519874442USP9Yc.7479A>G (p.Pro2493=)
n.7506A>G
c.524A>G
n.798A>G
c.7245A>G (p.Pro2415=)
c.7494A>G (p.Pro2498=)
Yg.12857610A>TCA519874449USP9Yc.7479A>T (p.Pro2493=)
n.7506A>T
c.524A>T
n.798A>T
c.7245A>T (p.Pro2415=)
c.7494A>T (p.Pro2498=)
Yg.12857611T>ACA414986252USP9Yc.7480T>A (p.Ser2494Thr)
n.7507T>A
c.525T>A
n.799T>A
c.7246T>A (p.Ser2416Thr)
c.7495T>A (p.Ser2499Thr)
Yg.12857611T>CCA10573576USP9Yc.7480T>C (p.Ser2494Pro)
n.7507T>C
c.525T>C
n.799T>C
c.7246T>C (p.Ser2416Pro)
c.7495T>C (p.Ser2499Pro)
dbSNP ExAC gnomAD v2
Yg.12857611T>GCA414986258USP9Yc.7480T>G (p.Ser2494Ala)
n.7507T>G
c.525T>G
n.799T>G
c.7246T>G (p.Ser2416Ala)
c.7495T>G (p.Ser2499Ala)
Yg.12857611T=CA2470561809USP9Yc.7480T= (p.Ser2494=)
n.7507T=
c.525T=
n.799T=
c.7246T= (p.Ser2416=)
c.7495T= (p.Ser2499=)
Yg.12857612C>ACA414986264USP9Yc.7481C>A (p.Ser2494Ter)
n.7508C>A
c.526C>A
n.800C>A
c.7247C>A (p.Ser2416Ter)
c.7496C>A (p.Ser2499Ter)
Yg.12857612C>GCA414986268USP9Yc.7481C>G (p.Ser2494Ter)
n.7508C>G
c.526C>G
n.800C>G
c.7247C>G (p.Ser2416Ter)
c.7496C>G (p.Ser2499Ter)
Yg.12857612C>TCA414986280USP9Yc.7481C>T (p.Ser2494Leu)
n.7508C>T
c.526C>T
n.800C>T
c.7247C>T (p.Ser2416Leu)
c.7496C>T (p.Ser2499Leu)
Yg.12857613A>CCA519874525USP9Yc.7482A>C (p.Ser2494=)
n.7509A>C
c.527A>C
n.801A>C
c.7248A>C (p.Ser2416=)
c.7497A>C (p.Ser2499=)
Yg.12857613A>GCA519874532USP9Yc.7482A>G (p.Ser2494=)
n.7509A>G
c.527A>G
n.801A>G
c.7248A>G (p.Ser2416=)
c.7497A>G (p.Ser2499=)
Yg.12857613A>TCA519874542USP9Yc.7482A>T (p.Ser2494=)
n.7509A>T
c.527A>T
n.801A>T
c.7248A>T (p.Ser2416=)
c.7497A>T (p.Ser2499=)
Yg.12857614G>ACA414986283USP9Yc.7483G>A (p.Glu2495Lys)
n.7510G>A
c.528G>A
n.802G>A
c.7249G>A (p.Glu2417Lys)
c.7498G>A (p.Glu2500Lys)
Yg.12857614G>CCA414986288USP9Yc.7483G>C (p.Glu2495Gln)
n.7510G>C
c.528G>C
n.802G>C
c.7249G>C (p.Glu2417Gln)
c.7498G>C (p.Glu2500Gln)
Yg.12857614G>TCA414986301USP9Yc.7483G>T (p.Glu2495Ter)
n.7510G>T
c.528G>T
n.802G>T
c.7249G>T (p.Glu2417Ter)
c.7498G>T (p.Glu2500Ter)
Yg.12857615A>CCA414986308USP9Yc.7484A>C (p.Glu2495Ala)
n.7511A>C
c.529A>C
n.803A>C
c.7250A>C (p.Glu2417Ala)
c.7499A>C (p.Glu2500Ala)
Yg.12857615A>GCA414986312USP9Yc.7484A>G (p.Glu2495Gly)
n.7511A>G
c.529A>G
n.803A>G
c.7250A>G (p.Glu2417Gly)
c.7499A>G (p.Glu2500Gly)
Yg.12857615A>TCA414986305USP9Yc.7484A>T (p.Glu2495Val)
n.7511A>T
c.529A>T
n.803A>T
c.7250A>T (p.Glu2417Val)
c.7499A>T (p.Glu2500Val)
Yg.12857616A>CCA414986315USP9Yc.7485A>C (p.Glu2495Asp)
n.7512A>C
c.530A>C
n.804A>C
c.7251A>C (p.Glu2417Asp)
c.7500A>C (p.Glu2500Asp)
Yg.12857616A>GCA519874587USP9Yc.7485A>G (p.Glu2495=)
n.7512A>G
c.530A>G
n.804A>G
c.7251A>G (p.Glu2417=)
c.7500A>G (p.Glu2500=)
Yg.12857616A>TCA414986316USP9Yc.7485A>T (p.Glu2495Asp)
n.7512A>T
c.530A>T
n.804A>T
c.7251A>T (p.Glu2417Asp)
c.7500A>T (p.Glu2500Asp)
Yg.12857617G>ACA414986318USP9Yc.7486G>A (p.Asp2496Asn)
n.7513G>A
c.531G>A
n.805G>A
c.7252G>A (p.Asp2418Asn)
c.7501G>A (p.Asp2501Asn)
Yg.12857617G>CCA414986334USP9Yc.7486G>C (p.Asp2496His)
n.7513G>C
c.531G>C
n.805G>C
c.7252G>C (p.Asp2418His)
c.7501G>C (p.Asp2501His)
Yg.12857617G>TCA414986321USP9Yc.7486G>T (p.Asp2496Tyr)
n.7513G>T
c.531G>T
n.805G>T
c.7252G>T (p.Asp2418Tyr)
c.7501G>T (p.Asp2501Tyr)
Yg.12857618A>CCA414986338USP9Yc.7487A>C (p.Asp2496Ala)
n.7514A>C
c.532A>C
n.806A>C
c.7253A>C (p.Asp2418Ala)
c.7502A>C (p.Asp2501Ala)
Yg.12857618A>GCA414986354USP9Yc.7487A>G (p.Asp2496Gly)
n.7514A>G
c.532A>G
n.806A>G
c.7253A>G (p.Asp2418Gly)
c.7502A>G (p.Asp2501Gly)
Yg.12857618A>TCA414986342USP9Yc.7487A>T (p.Asp2496Val)
n.7514A>T
c.532A>T
n.806A>T
c.7253A>T (p.Asp2418Val)
c.7502A>T (p.Asp2501Val)
Yg.12857619T>ACA414986362USP9Yc.7488T>A (p.Asp2496Glu)
n.7515T>A
c.533T>A
n.807T>A
c.7254T>A (p.Asp2418Glu)
c.7503T>A (p.Asp2501Glu)
Yg.12857619T>CCA519874621USP9Yc.7488T>C (p.Asp2496=)
n.7515T>C
c.533T>C
n.807T>C
c.7254T>C (p.Asp2418=)
c.7503T>C (p.Asp2501=)
gnomAD v3 gnomAD v4
Yg.12857619T>GCA414986372USP9Yc.7488T>G (p.Asp2496Glu)
n.7515T>G
c.533T>G
n.807T>G
c.7254T>G (p.Asp2418Glu)
c.7503T>G (p.Asp2501Glu)
Yg.12857620G>ACA414986379USP9Yc.7489G>A (p.Ala2497Thr)
n.7516G>A
c.534G>A
n.808G>A
c.7255G>A (p.Ala2419Thr)
c.7504G>A (p.Ala2502Thr)
Yg.12857620G>CCA414986380USP9Yc.7489G>C (p.Ala2497Pro)
n.7516G>C
c.534G>C
n.808G>C
c.7255G>C (p.Ala2419Pro)
c.7504G>C (p.Ala2502Pro)
Yg.12857620G>TCA414986381USP9Yc.7489G>T (p.Ala2497Ser)
n.7516G>T
c.534G>T
n.808G>T
c.7255G>T (p.Ala2419Ser)
c.7504G>T (p.Ala2502Ser)
Yg.12857621C>ACA414986384USP9Yc.7490C>A (p.Ala2497Asp)
n.7517C>A
c.535C>A
n.809C>A
c.7256C>A (p.Ala2419Asp)
c.7505C>A (p.Ala2502Asp)
Yg.12857621C>GCA414986388USP9Yc.7490C>G (p.Ala2497Gly)
n.7517C>G
c.535C>G
n.809C>G
c.7256C>G (p.Ala2419Gly)
c.7505C>G (p.Ala2502Gly)
Yg.12857621C>TCA414986392USP9Yc.7490C>T (p.Ala2497Val)
n.7517C>T
c.535C>T
n.809C>T
c.7256C>T (p.Ala2419Val)
c.7505C>T (p.Ala2502Val)
Yg.12857622C>ACA519874669USP9Yc.7491C>A (p.Ala2497=)
n.7518C>A
c.536C>A
n.810C>A
c.7257C>A (p.Ala2419=)
c.7506C>A (p.Ala2502=)
Yg.12857622C=CA2470561810USP9Yc.7491C= (p.Ala2497=)
n.7518C=
c.536C=
n.810C=
c.7257C= (p.Ala2419=)
c.7506C= (p.Ala2502=)
Yg.12857622C>GCA519874676USP9Yc.7491C>G (p.Ala2497=)
n.7518C>G
c.536C>G
n.810C>G
c.7257C>G (p.Ala2419=)
c.7506C>G (p.Ala2502=)
dbSNP gnomAD v2
Yg.12857622C>TCA519874680USP9Yc.7491C>T (p.Ala2497=)
n.7518C>T
c.536C>T
n.810C>T
c.7257C>T (p.Ala2419=)
c.7506C>T (p.Ala2502=)
dbSNP gnomAD v2
Yg.12857623C>ACA414986399USP9Yc.7492C>A (p.Pro2498Thr)
n.7519C>A
c.537C>A
n.811C>A
c.7258C>A (p.Pro2420Thr)
c.7507C>A (p.Pro2503Thr)
Yg.12857623C>GCA414986403USP9Yc.7492C>G (p.Pro2498Ala)
n.7519C>G
c.537C>G
n.811C>G
c.7258C>G (p.Pro2420Ala)
c.7507C>G (p.Pro2503Ala)
Yg.12857623C>TCA414986421USP9Yc.7492C>T (p.Pro2498Ser)
n.7519C>T
c.537C>T
n.811C>T
c.7258C>T (p.Pro2420Ser)
c.7507C>T (p.Pro2503Ser)
Yg.12857624C>ACA414986427USP9Yc.7493C>A (p.Pro2498Gln)
n.7520C>A
c.538C>A
n.812C>A
c.7259C>A (p.Pro2420Gln)
c.7508C>A (p.Pro2503Gln)
Yg.12857624C=CA2470561811USP9Yc.7493C= (p.Pro2498=)
n.7520C=
c.538C=
n.812C=
c.7259C= (p.Pro2420=)
c.7508C= (p.Pro2503=)
Yg.12857624C>GCA10573577USP9Yc.7493C>G (p.Pro2498Arg)
n.7520C>G
c.538C>G
n.812C>G
c.7259C>G (p.Pro2420Arg)
c.7508C>G (p.Pro2503Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.12857624C>TCA414986444USP9Yc.7493C>T (p.Pro2498Leu)
n.7520C>T
c.538C>T
n.812C>T
c.7259C>T (p.Pro2420Leu)
c.7508C>T (p.Pro2503Leu)
Yg.12857625A=CA2470561812USP9Yc.7494A= (p.Pro2498=)
n.7521A=
c.539A=
n.813A=
c.7260A= (p.Pro2420=)
c.7509A= (p.Pro2503=)
Yg.12857625A>CCA519874714USP9Yc.7494A>C (p.Pro2498=)
n.7521A>C
c.539A>C
n.813A>C
c.7260A>C (p.Pro2420=)
c.7509A>C (p.Pro2503=)
Yg.12857625A>GCA519874731USP9Yc.7494A>G (p.Pro2498=)
n.7521A>G
c.539A>G
n.813A>G
c.7260A>G (p.Pro2420=)
c.7509A>G (p.Pro2503=)
dbSNP gnomAD v2
Yg.12857625A>TCA519874710USP9Yc.7494A>T (p.Pro2498=)
n.7521A>T
c.539A>T
n.813A>T
c.7260A>T (p.Pro2420=)
c.7509A>T (p.Pro2503=)
Yg.12857626T>ACA414986451USP9Yc.7495T>A (p.Leu2499Ile)
n.7522T>A
c.540T>A
n.814T>A
c.7261T>A (p.Leu2421Ile)
c.7510T>A (p.Leu2504Ile)
Yg.12857626T>CCA519874732USP9Yc.7495T>C (p.Leu2499=)
n.7522T>C
c.540T>C
n.814T>C
c.7261T>C (p.Leu2421=)
c.7510T>C (p.Leu2504=)
Yg.12857626T>GCA414986453USP9Yc.7495T>G (p.Leu2499Val)
n.7522T>G
c.540T>G
n.814T>G
c.7261T>G (p.Leu2421Val)
c.7510T>G (p.Leu2504Val)
Yg.12857627T>ACA414986456USP9Yc.7496T>A (p.Leu2499Ter)
n.7523T>A
c.541T>A
n.815T>A
c.7262T>A (p.Leu2421Ter)
c.7511T>A (p.Leu2504Ter)
Yg.12857627T>CCA414986459USP9Yc.7496T>C (p.Leu2499Ser)
n.7523T>C
c.541T>C
n.815T>C
c.7262T>C (p.Leu2421Ser)
c.7511T>C (p.Leu2504Ser)
Yg.12857627T>GCA414986462USP9Yc.7496T>G (p.Leu2499Ter)
n.7523T>G
c.541T>G
n.815T>G
c.7262T>G (p.Leu2421Ter)
c.7511T>G (p.Leu2504Ter)
Yg.12857628A>CCA414986466USP9Yc.7497A>C (p.Leu2499Phe)
n.7524A>C
c.542A>C
n.816A>C
c.7263A>C (p.Leu2421Phe)
c.7512A>C (p.Leu2504Phe)
Yg.12857628A>GCA519874772USP9Yc.7497A>G (p.Leu2499=)
n.7524A>G
c.542A>G
n.816A>G
c.7263A>G (p.Leu2421=)
c.7512A>G (p.Leu2504=)
Yg.12857628A>TCA414986467USP9Yc.7497A>T (p.Leu2499Phe)
n.7524A>T
c.542A>T
n.816A>T
c.7263A>T (p.Leu2421Phe)
c.7512A>T (p.Leu2504Phe)
Yg.12857629T>ACA414986469USP9Yc.7498T>A (p.Tyr2500Asn)
n.7525T>A
c.543T>A
n.817T>A
c.7264T>A (p.Tyr2422Asn)
c.7513T>A (p.Tyr2505Asn)
Yg.12857629T>CCA414986474USP9Yc.7498T>C (p.Tyr2500His)
n.7525T>C
c.543T>C
n.817T>C
c.7264T>C (p.Tyr2422His)
c.7513T>C (p.Tyr2505His)
Yg.12857629T>GCA414986480USP9Yc.7498T>G (p.Tyr2500Asp)
n.7525T>G
c.543T>G
n.817T>G
c.7264T>G (p.Tyr2422Asp)
c.7513T>G (p.Tyr2505Asp)
Yg.12857630A>CCA414986491USP9Yc.7499A>C (p.Tyr2500Ser)
n.7526A>C
c.544A>C
n.818A>C
c.7265A>C (p.Tyr2422Ser)
c.7514A>C (p.Tyr2505Ser)
Yg.12857630A>GCA414986493USP9Yc.7499A>G (p.Tyr2500Cys)
n.7526A>G
c.544A>G
n.818A>G
c.7265A>G (p.Tyr2422Cys)
c.7514A>G (p.Tyr2505Cys)
Yg.12857630A>TCA414986498USP9Yc.7499A>T (p.Tyr2500Phe)
n.7526A>T
c.544A>T
n.818A>T
c.7265A>T (p.Tyr2422Phe)
c.7514A>T (p.Tyr2505Phe)
Yg.12857631T>ACA414986500USP9Yc.7500T>A (p.Tyr2500Ter)
n.7527T>A
c.545T>A
n.819T>A
c.7266T>A (p.Tyr2422Ter)
c.7515T>A (p.Tyr2505Ter)
Yg.12857631T>CCA519874820USP9Yc.7500T>C (p.Tyr2500=)
n.7527T>C
c.545T>C
n.819T>C
c.7266T>C (p.Tyr2422=)
c.7515T>C (p.Tyr2505=)
Yg.12857631T>GCA414986499USP9Yc.7500T>G (p.Tyr2500Ter)
n.7527T>G
c.545T>G
n.819T>G
c.7266T>G (p.Tyr2422Ter)
c.7515T>G (p.Tyr2505Ter)
Yg.12857632C>ACA414986502USP9Yc.7501C>A (p.Pro2501Thr)
n.7528C>A
c.546C>A
n.820C>A
c.7267C>A (p.Pro2423Thr)
c.7516C>A (p.Pro2506Thr)
Yg.12857632C>GCA414986508USP9Yc.7501C>G (p.Pro2501Ala)
n.7528C>G
c.546C>G
n.820C>G
c.7267C>G (p.Pro2423Ala)
c.7516C>G (p.Pro2506Ala)
Yg.12857632C>TCA414986512USP9Yc.7501C>T (p.Pro2501Ser)
n.7528C>T
c.546C>T
n.820C>T
c.7267C>T (p.Pro2423Ser)
c.7516C>T (p.Pro2506Ser)
Yg.12857633C>ACA414986541USP9Yc.7502C>A (p.Pro2501His)
n.7529C>A
c.547C>A
n.821C>A
c.7268C>A (p.Pro2423His)
c.7517C>A (p.Pro2506His)
Yg.12857633C>GCA414986545USP9Yc.7502C>G (p.Pro2501Arg)
n.7529C>G
c.547C>G
n.821C>G
c.7268C>G (p.Pro2423Arg)
c.7517C>G (p.Pro2506Arg)
Yg.12857633C>TCA414986547USP9Yc.7502C>T (p.Pro2501Leu)
n.7529C>T
c.547C>T
n.821C>T
c.7268C>T (p.Pro2423Leu)
c.7517C>T (p.Pro2506Leu)
Yg.12857634T>ACA519874842USP9Yc.7503T>A (p.Pro2501=)
n.7530T>A
c.548T>A
n.822T>A
c.7269T>A (p.Pro2423=)
c.7518T>A (p.Pro2506=)
Yg.12857634T>CCA519874843USP9Yc.7503T>C (p.Pro2501=)
n.7530T>C
c.548T>C
n.822T>C
c.7269T>C (p.Pro2423=)
c.7518T>C (p.Pro2506=)
Yg.12857634T>GCA519874847USP9Yc.7503T>G (p.Pro2501=)
n.7530T>G
c.548T>G
n.822T>G
c.7269T>G (p.Pro2423=)
c.7518T>G (p.Pro2506=)
Yg.12857635C>ACA414986556USP9Yc.7504C>A (p.His2502Asn)
n.7531C>A
c.549C>A
n.823C>A
c.7270C>A (p.His2424Asn)
c.7519C>A (p.His2507Asn)
Yg.12857635C>GCA414986552USP9Yc.7504C>G (p.His2502Asp)
n.7531C>G
c.549C>G
n.823C>G
c.7270C>G (p.His2424Asp)
c.7519C>G (p.His2507Asp)
Yg.12857635C>TCA414986554USP9Yc.7504C>T (p.His2502Tyr)
n.7531C>T
c.549C>T
n.823C>T
c.7270C>T (p.His2424Tyr)
c.7519C>T (p.His2507Tyr)
Yg.12857636A>CCA414986561USP9Yc.7505A>C (p.His2502Pro)
n.7532A>C
c.550A>C
n.824A>C
c.7271A>C (p.His2424Pro)
c.7520A>C (p.His2507Pro)
Yg.12857636A>GCA414986565USP9Yc.7505A>G (p.His2502Arg)
n.7532A>G
c.550A>G
n.824A>G
c.7271A>G (p.His2424Arg)
c.7520A>G (p.His2507Arg)
Yg.12857636A>TCA414986570USP9Yc.7505A>T (p.His2502Leu)
n.7532A>T
c.550A>T
n.824A>T
c.7271A>T (p.His2424Leu)
c.7520A>T (p.His2507Leu)
Yg.12857637T>ACA414986577USP9Yc.7506T>A (p.His2502Gln)
n.7533T>A
c.551T>A
n.825T>A
c.7272T>A (p.His2424Gln)
c.7521T>A (p.His2507Gln)
Yg.12857637T>CCA519874909USP9Yc.7506T>C (p.His2502=)
n.7533T>C
c.551T>C
n.825T>C
c.7272T>C (p.His2424=)
c.7521T>C (p.His2507=)
Yg.12857637T>GCA414986581USP9Yc.7506T>G (p.His2502Gln)
n.7533T>G
c.551T>G
n.825T>G
c.7272T>G (p.His2424Gln)
c.7521T>G (p.His2507Gln)
Yg.12857638T>ACA414986584USP9Yc.7507T>A (p.Ser2503Thr)
n.7534T>A
c.552T>A
n.826T>A
c.7273T>A (p.Ser2425Thr)
c.7522T>A (p.Ser2508Thr)
Yg.12857638T>CCA414986592USP9Yc.7507T>C (p.Ser2503Pro)
n.7534T>C
c.552T>C
n.826T>C
c.7273T>C (p.Ser2425Pro)
c.7522T>C (p.Ser2508Pro)
Yg.12857638T>GCA414986589USP9Yc.7507T>G (p.Ser2503Ala)
n.7534T>G
c.552T>G
n.826T>G
c.7273T>G (p.Ser2425Ala)
c.7522T>G (p.Ser2508Ala)
Yg.12857639C>ACA414986596USP9Yc.7508C>A (p.Ser2503Ter)
n.7535C>A
c.553C>A
n.827C>A
c.7274C>A (p.Ser2425Ter)
c.7523C>A (p.Ser2508Ter)
Yg.12857639C>GCA414986600USP9Yc.7508C>G (p.Ser2503Ter)
n.7535C>G
c.553C>G
n.827C>G
c.7274C>G (p.Ser2425Ter)
c.7523C>G (p.Ser2508Ter)
Yg.12857639C>TCA414986601USP9Yc.7508C>T (p.Ser2503Leu)
n.7535C>T
c.553C>T
n.827C>T
c.7274C>T (p.Ser2425Leu)
c.7523C>T (p.Ser2508Leu)
Yg.12857640A=CA2470561813USP9Yc.7509A= (p.Ser2503=)
n.7536A=
c.554A=
n.828A=
c.7275A= (p.Ser2425=)
c.7524A= (p.Ser2508=)
Yg.12857640A>CCA10573578USP9Yc.7509A>C (p.Ser2503=)
n.7536A>C
c.554A>C
n.828A>C
c.7275A>C (p.Ser2425=)
c.7524A>C (p.Ser2508=)
dbSNP ExAC gnomAD v2
Yg.12857640A>GCA519874952USP9Yc.7509A>G (p.Ser2503=)
n.7536A>G
c.554A>G
n.828A>G
c.7275A>G (p.Ser2425=)
c.7524A>G (p.Ser2508=)
Yg.12857640A>TCA519874954USP9Yc.7509A>T (p.Ser2503=)
n.7536A>T
c.554A>T
n.828A>T
c.7275A>T (p.Ser2425=)
c.7524A>T (p.Ser2508=)
Yg.12857641C>ACA414986606USP9Yc.7510C>A (p.Pro2504Thr)
n.7537C>A
c.555C>A
n.829C>A
c.7276C>A (p.Pro2426Thr)
c.7525C>A (p.Pro2509Thr)
Yg.12857641C=CA2470561814USP9Yc.7510C= (p.Pro2504=)
n.7537C=
c.555C=
n.829C=
c.7276C= (p.Pro2426=)
c.7525C= (p.Pro2509=)
Yg.12857641C>GCA414986611USP9Yc.7510C>G (p.Pro2504Ala)
n.7537C>G
c.555C>G
n.829C>G
c.7276C>G (p.Pro2426Ala)
c.7525C>G (p.Pro2509Ala)
Yg.12857641C>TCA10573579USP9Yc.7510C>T (p.Pro2504Ser)
n.7537C>T
c.555C>T
n.829C>T
c.7276C>T (p.Pro2426Ser)
c.7525C>T (p.Pro2509Ser)
dbSNP ExAC gnomAD v2
Yg.12857642C>ACA10573580USP9Yc.7511C>A (p.Pro2504His)
n.7538C>A
c.556C>A
n.830C>A
c.7277C>A (p.Pro2426His)
c.7526C>A (p.Pro2509His)
dbSNP ExAC gnomAD v2
Yg.12857642C=CA2470561815USP9Yc.7511C= (p.Pro2504=)
n.7538C=
c.556C=
n.830C=
c.7277C= (p.Pro2426=)
c.7526C= (p.Pro2509=)
Yg.12857642C>GCA414986620USP9Yc.7511C>G (p.Pro2504Arg)
n.7538C>G
c.556C>G
n.830C>G
c.7277C>G (p.Pro2426Arg)
c.7526C>G (p.Pro2509Arg)
Yg.12857642C>TCA414986624USP9Yc.7511C>T (p.Pro2504Leu)
n.7538C>T
c.556C>T
n.830C>T
c.7277C>T (p.Pro2426Leu)
c.7526C>T (p.Pro2509Leu)
Yg.12857643T>ACA519874972USP9Yc.7512T>A (p.Pro2504=)
n.7539T>A
c.557T>A
n.831T>A
c.7278T>A (p.Pro2426=)
c.7527T>A (p.Pro2509=)
Yg.12857643T>CCA519874976USP9Yc.7512T>C (p.Pro2504=)
n.7539T>C
c.557T>C
n.831T>C
c.7278T>C (p.Pro2426=)
c.7527T>C (p.Pro2509=)
dbSNP gnomAD v2
Yg.12857643T>GCA519874987USP9Yc.7512T>G (p.Pro2504=)
n.7539T>G
c.557T>G
n.831T>G
c.7278T>G (p.Pro2426=)
c.7527T>G (p.Pro2509=)
Yg.12857643T=CA2470561816USP9Yc.7512T= (p.Pro2504=)
n.7539T=
c.557T=
n.831T=
c.7278T= (p.Pro2426=)
c.7527T= (p.Pro2509=)
Yg.12857644G>ACA414986631USP9Yc.7513G>A (p.Ala2505Thr)
n.7540G>A
c.558G>A
n.832G>A
c.7279G>A (p.Ala2427Thr)
c.7528G>A (p.Ala2510Thr)
Yg.12857644G>CCA414986638USP9Yc.7513G>C (p.Ala2505Pro)
n.7540G>C
c.558G>C
n.832G>C
c.7279G>C (p.Ala2427Pro)
c.7528G>C (p.Ala2510Pro)
Yg.12857644G>TCA414986634USP9Yc.7513G>T (p.Ala2505Ser)
n.7540G>T
c.558G>T
n.832G>T
c.7279G>T (p.Ala2427Ser)
c.7528G>T (p.Ala2510Ser)
Yg.12857645C>ACA414986646USP9Yc.7514C>A (p.Ala2505Asp)
n.7541C>A
c.559C>A
n.833C>A
c.7280C>A (p.Ala2427Asp)
c.7529C>A (p.Ala2510Asp)
Yg.12857645C>GCA414986651USP9Yc.7514C>G (p.Ala2505Gly)
n.7541C>G
c.559C>G
n.833C>G
c.7280C>G (p.Ala2427Gly)
c.7529C>G (p.Ala2510Gly)
Yg.12857645C>TCA414986649USP9Yc.7514C>T (p.Ala2505Val)
n.7541C>T
c.559C>T
n.833C>T
c.7280C>T (p.Ala2427Val)
c.7529C>T (p.Ala2510Val)
gnomAD v3 gnomAD v4
Yg.12857646C>ACA519875023USP9Yc.7515C>A (p.Ala2505=)
n.7542C>A
c.560C>A
n.834C>A
c.7281C>A (p.Ala2427=)
c.7530C>A (p.Ala2510=)
Yg.12857646C>GCA519875029USP9Yc.7515C>G (p.Ala2505=)
n.7542C>G
c.560C>G
n.834C>G
c.7281C>G (p.Ala2427=)
c.7530C>G (p.Ala2510=)
Yg.12857646C>TCA519875034USP9Yc.7515C>T (p.Ala2505=)
n.7542C>T
c.560C>T
n.834C>T
c.7281C>T (p.Ala2427=)
c.7530C>T (p.Ala2510=)
Yg.12857647T>ACA414986657USP9Yc.7516T>A (p.Ser2506Thr)
n.7543T>A
c.561T>A
n.835T>A
c.7282T>A (p.Ser2428Thr)
c.7531T>A (p.Ser2511Thr)
Yg.12857647T>CCA414986662USP9Yc.7516T>C (p.Ser2506Pro)
n.7543T>C
c.561T>C
n.835T>C
c.7282T>C (p.Ser2428Pro)
c.7531T>C (p.Ser2511Pro)
Yg.12857647T>GCA414986667USP9Yc.7516T>G (p.Ser2506Ala)
n.7543T>G
c.561T>G
n.835T>G
c.7282T>G (p.Ser2428Ala)
c.7531T>G (p.Ser2511Ala)
Yg.12857648C>ACA414986671USP9Yc.7517C>A (p.Ser2506Tyr)
n.7544C>A
c.562C>A
n.836C>A
c.7283C>A (p.Ser2428Tyr)
c.7532C>A (p.Ser2511Tyr)
Yg.12857648C>GCA414986676USP9Yc.7517C>G (p.Ser2506Cys)
n.7544C>G
c.562C>G
n.836C>G
c.7283C>G (p.Ser2428Cys)
c.7532C>G (p.Ser2511Cys)
Yg.12857648C>TCA414986677USP9Yc.7517C>T (p.Ser2506Phe)
n.7544C>T
c.562C>T
n.836C>T
c.7283C>T (p.Ser2428Phe)
c.7532C>T (p.Ser2511Phe)
Yg.12857649T>ACA519875115USP9Yc.7518T>A (p.Ser2506=)
n.7545T>A
c.563T>A
n.837T>A
c.7284T>A (p.Ser2428=)
c.7533T>A (p.Ser2511=)
Yg.12857649T>CCA519875127USP9Yc.7518T>C (p.Ser2506=)
n.7545T>C
c.563T>C
n.837T>C
c.7284T>C (p.Ser2428=)
c.7533T>C (p.Ser2511=)
Yg.12857649T>GCA519875122USP9Yc.7518T>G (p.Ser2506=)
n.7545T>G
c.563T>G
n.837T>G
c.7284T>G (p.Ser2428=)
c.7533T>G (p.Ser2511=)
Yg.12857650C>ACA414986678USP9Yc.7519C>A (p.Gln2507Lys)
n.7546C>A
c.564C>A
n.838C>A
c.7285C>A (p.Gln2429Lys)
c.7534C>A (p.Gln2512Lys)
Yg.12857650C>GCA414986680USP9Yc.7519C>G (p.Gln2507Glu)
n.7546C>G
c.564C>G
n.838C>G
c.7285C>G (p.Gln2429Glu)
c.7534C>G (p.Gln2512Glu)
Yg.12857650C>TCA414986684USP9Yc.7519C>T (p.Gln2507Ter)
n.7546C>T
c.564C>T
n.838C>T
c.7285C>T (p.Gln2429Ter)
c.7534C>T (p.Gln2512Ter)
Yg.12857651A>CCA414986703USP9Yc.7520A>C (p.Gln2507Pro)
n.7547A>C
c.565A>C
n.839A>C
c.7286A>C (p.Gln2429Pro)
c.7535A>C (p.Gln2512Pro)
Yg.12857651A>GCA414986700USP9Yc.7520A>G (p.Gln2507Arg)
n.7547A>G
c.565A>G
n.839A>G
c.7286A>G (p.Gln2429Arg)
c.7535A>G (p.Gln2512Arg)
Yg.12857651A>TCA414986691USP9Yc.7520A>T (p.Gln2507Leu)
n.7547A>T
c.565A>T
n.839A>T
c.7286A>T (p.Gln2429Leu)
c.7535A>T (p.Gln2512Leu)
Yg.12857652G>ACA519875155USP9Yc.7521G>A (p.Gln2507=)
n.7548G>A
c.566G>A
n.840G>A
c.7287G>A (p.Gln2429=)
c.7536G>A (p.Gln2512=)
Yg.12857652G>CCA414986711USP9Yc.7521G>C (p.Gln2507His)
n.7548G>C
c.566G>C
n.840G>C
c.7287G>C (p.Gln2429His)
c.7536G>C (p.Gln2512His)
Yg.12857652G>TCA414986715USP9Yc.7521G>T (p.Gln2507His)
n.7548G>T
c.566G>T
n.840G>T
c.7287G>T (p.Gln2429His)
c.7536G>T (p.Gln2512His)
Yg.12857653T>ACA414986719USP9Yc.7522T>A (p.Tyr2508Asn)
n.7549T>A
c.567T>A
n.841T>A
c.7288T>A (p.Tyr2430Asn)
c.7537T>A (p.Tyr2513Asn)
Yg.12857653T>CCA414986720USP9Yc.7522T>C (p.Tyr2508His)
n.7549T>C
c.567T>C
n.841T>C
c.7288T>C (p.Tyr2430His)
c.7537T>C (p.Tyr2513His)
Yg.12857653T>GCA414986721USP9Yc.7522T>G (p.Tyr2508Asp)
n.7549T>G
c.567T>G
n.841T>G
c.7288T>G (p.Tyr2430Asp)
c.7537T>G (p.Tyr2513Asp)
Yg.12857654A=CA2470561817USP9Yc.7523A= (p.Tyr2508=)
n.7550A=
c.568A=
n.842A=
c.7289A= (p.Tyr2430=)
c.7538A= (p.Tyr2513=)
Yg.12857654A>CCA414986725USP9Yc.7523A>C (p.Tyr2508Ser)
n.7550A>C
c.568A>C
n.842A>C
c.7289A>C (p.Tyr2430Ser)
c.7538A>C (p.Tyr2513Ser)
Yg.12857654A>GCA414986729USP9Yc.7523A>G (p.Tyr2508Cys)
n.7550A>G
c.568A>G
n.842A>G
c.7289A>G (p.Tyr2430Cys)
c.7538A>G (p.Tyr2513Cys)
dbSNP
Yg.12857654A>TCA414986732USP9Yc.7523A>T (p.Tyr2508Phe)
n.7550A>T
c.568A>T
n.842A>T
c.7289A>T (p.Tyr2430Phe)
c.7538A>T (p.Tyr2513Phe)
Yg.12857655T>ACA414986734USP9Yc.7524T>A (p.Tyr2508Ter)
n.7551T>A
c.569T>A
n.843T>A
c.7290T>A (p.Tyr2430Ter)
c.7539T>A (p.Tyr2513Ter)
Yg.12857655T>CCA519875183USP9Yc.7524T>C (p.Tyr2508=)
n.7551T>C
c.569T>C
n.843T>C
c.7290T>C (p.Tyr2430=)
c.7539T>C (p.Tyr2513=)
Yg.12857655T>GCA414986736USP9Yc.7524T>G (p.Tyr2508Ter)
n.7551T>G
c.569T>G
n.843T>G
c.7290T>G (p.Tyr2430Ter)
c.7539T>G (p.Tyr2513Ter)
Yg.12857656C>ACA414986745USP9Yc.7525C>A (p.Gln2509Lys)
n.7552C>A
c.570C>A
n.844C>A
c.7291C>A (p.Gln2431Lys)
c.7540C>A (p.Gln2514Lys)
Yg.12857656C>GCA414986742USP9Yc.7525C>G (p.Gln2509Glu)
n.7552C>G
c.570C>G
n.844C>G
c.7291C>G (p.Gln2431Glu)
c.7540C>G (p.Gln2514Glu)
Yg.12857656C>TCA414986739USP9Yc.7525C>T (p.Gln2509Ter)
n.7552C>T
c.570C>T
n.844C>T
c.7291C>T (p.Gln2431Ter)
c.7540C>T (p.Gln2514Ter)
Yg.12857657A>CCA414986746USP9Yc.7526A>C (p.Gln2509Pro)
n.7553A>C
c.571A>C
n.845A>C
c.7292A>C (p.Gln2431Pro)
c.7541A>C (p.Gln2514Pro)
Yg.12857657A>GCA414986747USP9Yc.7526A>G (p.Gln2509Arg)
n.7553A>G
c.571A>G
n.845A>G
c.7292A>G (p.Gln2431Arg)
c.7541A>G (p.Gln2514Arg)
Yg.12857657A>TCA414986750USP9Yc.7526A>T (p.Gln2509Leu)
n.7553A>T
c.571A>T
n.845A>T
c.7292A>T (p.Gln2431Leu)
c.7541A>T (p.Gln2514Leu)
Yg.12857658A>CCA414986757USP9Yc.7527A>C (p.Gln2509His)
n.7554A>C
c.572A>C
n.846A>C
c.7293A>C (p.Gln2431His)
c.7542A>C (p.Gln2514His)
Yg.12857658A>GCA519875243USP9Yc.7527A>G (p.Gln2509=)
n.7554A>G
c.572A>G
n.846A>G
c.7293A>G (p.Gln2431=)
c.7542A>G (p.Gln2514=)
Yg.12857658A>TCA414986760USP9Yc.7527A>T (p.Gln2509His)
n.7554A>T
c.572A>T
n.846A>T
c.7293A>T (p.Gln2431His)
c.7542A>T (p.Gln2514His)
Yg.12857659C>ACA414986764USP9Yc.7528C>A (p.Gln2510Lys)
n.7555C>A
c.573C>A
n.847C>A
c.7294C>A (p.Gln2432Lys)
c.7543C>A (p.Gln2515Lys)
Yg.12857659C>GCA414986767USP9Yc.7528C>G (p.Gln2510Glu)
n.7555C>G
c.573C>G
n.847C>G
c.7294C>G (p.Gln2432Glu)
c.7543C>G (p.Gln2515Glu)
Yg.12857659C>TCA414986769USP9Yc.7528C>T (p.Gln2510Ter)
n.7555C>T
c.573C>T
n.847C>T
c.7294C>T (p.Gln2432Ter)
c.7543C>T (p.Gln2515Ter)
Yg.12857660A>CCA414986773USP9Yc.7529A>C (p.Gln2510Pro)
n.7556A>C
c.574A>C
n.848A>C
c.7295A>C (p.Gln2432Pro)
c.7544A>C (p.Gln2515Pro)
Yg.12857660A>GCA414986777USP9Yc.7529A>G (p.Gln2510Arg)
n.7556A>G
c.574A>G
n.848A>G
c.7295A>G (p.Gln2432Arg)
c.7544A>G (p.Gln2515Arg)
Yg.12857660A>TCA414986780USP9Yc.7529A>T (p.Gln2510Leu)
n.7556A>T
c.574A>T
n.848A>T
c.7295A>T (p.Gln2432Leu)
c.7544A>T (p.Gln2515Leu)
Yg.12857661G>ACA519875315USP9Yc.7530G>A (p.Gln2510=)
n.7557G>A
c.575G>A
n.849G>A
c.7296G>A (p.Gln2432=)
c.7545G>A (p.Gln2515=)
Yg.12857661G>CCA414986785USP9Yc.7530G>C (p.Gln2510His)
n.7557G>C
c.575G>C
n.849G>C
c.7296G>C (p.Gln2432His)
c.7545G>C (p.Gln2515His)
Yg.12857661G>TCA414986784USP9Yc.7530G>T (p.Gln2510His)
n.7557G>T
c.575G>T
n.849G>T
c.7296G>T (p.Gln2432His)
c.7545G>T (p.Gln2515His)
Yg.12857662G>ACA414986786USP9Yc.7530+1G>A (n.7530+1G>A)
n.7557+1G>A
c.575+1G>A
n.849+1G>A
c.7296+1G>A (n.7296+1G>A)
c.7545+1G>A (n.7545+1G>A)
Yg.12857662G>CCA414986787USP9Yc.7530+1G>C (n.7530+1G>C)
n.7557+1G>C
c.575+1G>C
n.849+1G>C
c.7296+1G>C (n.7296+1G>C)
c.7545+1G>C (n.7545+1G>C)
Yg.12857662G>TCA414986788USP9Yc.7530+1G>T (n.7530+1G>T)
n.7557+1G>T
c.575+1G>T
n.849+1G>T
c.7296+1G>T (n.7296+1G>T)
c.7545+1G>T (n.7545+1G>T)
Yg.12857663T>ACA414986792USP9Yc.7530+2T>A (n.7530+2T>A)
n.7557+2T>A
c.575+2T>A
n.849+2T>A
c.7296+2T>A (n.7296+2T>A)
c.7545+2T>A (n.7545+2T>A)
Yg.12857663T>CCA414986796USP9Yc.7530+2T>C (n.7530+2T>C)
n.7557+2T>C
c.575+2T>C
n.849+2T>C
c.7296+2T>C (n.7296+2T>C)
c.7545+2T>C (n.7545+2T>C)
Yg.12857663T>GCA414986799USP9Yc.7530+2T>G (n.7530+2T>G)
n.7557+2T>G
c.575+2T>G
n.849+2T>G
c.7296+2T>G (n.7296+2T>G)
c.7545+2T>G (n.7545+2T>G)
Yg.12857669G>CCA2766242728USP9Yc.7530+8G>C (n.7530+8G>C)
n.7557+8G>C
c.575+8G>C
n.849+8G>C
c.7296+8G>C (n.7296+8G>C)
c.7545+8G>C (n.7545+8G>C)
Yg.12857673T>CCA645286710USP9Yc.7530+12T>C (n.7530+12T>C)
n.7557+12T>C
c.575+12T>C
n.849+12T>C
c.7296+12T>C (n.7296+12T>C)
c.7545+12T>C (n.7545+12T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Yg.12857673T=CA2470561818USP9Yc.7530+12T= (n.7530+12T=)
n.7557+12T=
c.575+12T=
n.849+12T=
c.7296+12T= (n.7296+12T=)
c.7545+12T= (n.7545+12T=)
Yg.12857677C>GCA2766242729USP9Yc.7530+16C>G (n.7530+16C>G)
n.7557+16C>G
c.575+16C>G
n.849+16C>G
c.7296+16C>G (n.7296+16C>G)
c.7545+16C>G (n.7545+16C>G)
Yg.12857686C>TCA2766242730USP9Yc.7530+25C>T (n.7530+25C>T)
n.7557+25C>T
c.575+25C>T
n.849+25C>T
c.7296+25C>T (n.7296+25C>T)
c.7545+25C>T (n.7545+25C>T)
Yg.12857688C>GCA2766242731USP9Yc.7530+27C>G (n.7530+27C>G)
n.7557+27C>G
c.575+27C>G
n.849+27C>G
c.7296+27C>G (n.7296+27C>G)
c.7545+27C>G (n.7545+27C>G)
Yg.12857690C>GCA2766242732USP9Yc.7530+29C>G (n.7530+29C>G)
n.7557+29C>G
c.575+29C>G
n.849+29C>G
c.7296+29C>G (n.7296+29C>G)
c.7545+29C>G (n.7545+29C>G)
Yg.12857694C>TCA2551744370USP9Yc.7530+33C>T (n.7530+33C>T)
n.7557+33C>T
c.575+33C>T
n.849+33C>T
c.7296+33C>T (n.7296+33C>T)
c.7545+33C>T (n.7545+33C>T)
Yg.12857695C>ACA2824887621USP9Yc.7530+34C>A (n.7530+34C>A)
n.7557+34C>A
c.575+34C>A
n.849+34C>A
c.7296+34C>A (n.7296+34C>A)
c.7545+34C>A (n.7545+34C>A)
Yg.12857695C>GCA2766242733USP9Yc.7530+34C>G (n.7530+34C>G)
n.7557+34C>G
c.575+34C>G
n.849+34C>G
c.7296+34C>G (n.7296+34C>G)
c.7545+34C>G (n.7545+34C>G)
Yg.12857695_12857696insAAACCAAACACACCCAACACA2824887622USP9Yc.7530+34_7530+35insAAACCAAACACACCCAACA (n.7530+34_7530+35insAAACCAAACACACCCAACA)
n.7557+34_7557+35insAAACCAAACACACCCAACA
c.575+34_575+35insAAACCAAACACACCCAACA
n.849+34_849+35insAAACCAAACACACCCAACA
c.7296+34_7296+35insAAACCAAACACACCCAACA (n.7296+34_7296+35insAAACCAAACACACCCAACA)
c.7545+34_7545+35insAAACCAAACACACCCAACA (n.7545+34_7545+35insAAACCAAACACACCCAACA)
Yg.12857696C>ACA2766242734USP9Yc.7530+35C>A (n.7530+35C>A)
n.7557+35C>A
c.575+35C>A
n.849+35C>A
c.7296+35C>A (n.7296+35C>A)
c.7545+35C>A (n.7545+35C>A)
Yg.12857697A>GCA2766242735USP9Yc.7530+36A>G (n.7530+36A>G)
n.7557+36A>G
c.575+36A>G
n.849+36A>G
c.7296+36A>G (n.7296+36A>G)
c.7545+36A>G (n.7545+36A>G)
Yg.12857697A>TCA2766242736USP9Yc.7530+36A>T (n.7530+36A>T)
n.7557+36A>T
c.575+36A>T
n.849+36A>T
c.7296+36A>T (n.7296+36A>T)
c.7545+36A>T (n.7545+36A>T)
Yg.12857698T>CCA2766242737USP9Yc.7530+37T>C (n.7530+37T>C)
n.7557+37T>C
c.575+37T>C
n.849+37T>C
c.7296+37T>C (n.7296+37T>C)
c.7545+37T>C (n.7545+37T>C)
Yg.12857701delCA2824887623USP9Yc.7530+40del (n.7530+40del)
n.7557+40del
c.575+40del
n.849+40del
c.7296+40del (n.7296+40del)
c.7545+40del (n.7545+40del)
Yg.12857704T>CCA10573581USP9Yc.7530+43T>C (n.7530+43T>C)
n.7557+43T>C
c.575+43T>C
n.849+43T>C
c.7296+43T>C (n.7296+43T>C)
c.7545+43T>C (n.7545+43T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.12857704T=CA2470561819USP9Yc.7530+43T= (n.7530+43T=)
n.7557+43T=
c.575+43T=
n.849+43T=
c.7296+43T= (n.7296+43T=)
c.7545+43T= (n.7545+43T=)
Yg.12857706C>ACA2579748228USP9Yc.7530+45C>A (n.7530+45C>A)
n.7557+45C>A
c.575+45C>A
n.849+45C>A
c.7296+45C>A (n.7296+45C>A)
c.7545+45C>A (n.7545+45C>A)
Yg.12857706dupCA2766242738USP9Yc.7530+45dup (n.7530+45dup)
n.7557+45dup
c.575+45dup
n.849+45dup
c.7296+45dup (n.7296+45dup)
c.7545+45dup (n.7545+45dup)
Yg.12857707T>CCA2579748229USP9Yc.7530+46T>C (n.7530+46T>C)
n.7557+46T>C
c.575+46T>C
n.849+46T>C
c.7296+46T>C (n.7296+46T>C)
c.7545+46T>C (n.7545+46T>C)
Yg.12857708T>CCA2579748230USP9Yc.7530+47T>C (n.7530+47T>C)
n.7557+47T>C
c.575+47T>C
n.849+47T>C
c.7296+47T>C (n.7296+47T>C)
c.7545+47T>C (n.7545+47T>C)
Yg.12857709T>ACA2580610651USP9Yc.7530+48T>A (n.7530+48T>A)
n.7557+48T>A
c.575+48T>A
n.849+48T>A
c.7296+48T>A (n.7296+48T>A)
c.7545+48T>A (n.7545+48T>A)
Yg.12857709T>CCA2580610652USP9Yc.7530+48T>C (n.7530+48T>C)
n.7557+48T>C
c.575+48T>C
n.849+48T>C
c.7296+48T>C (n.7296+48T>C)
c.7545+48T>C (n.7545+48T>C)
Yg.12857709T>GCA10573582USP9Yc.7530+48T>G (n.7530+48T>G)
n.7557+48T>G
c.575+48T>G
n.849+48T>G
c.7296+48T>G (n.7296+48T>G)
c.7545+48T>G (n.7545+48T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.12857709T=CA2470561820USP9Yc.7530+48T= (n.7530+48T=)
n.7557+48T=
c.575+48T=
n.849+48T=
c.7296+48T= (n.7296+48T=)
c.7545+48T= (n.7545+48T=)

Number of alleles fetched