Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.40410818_40411313delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGCCA2171765580IVDc.366+21_420delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC
c.456+21_510delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC
c.543+21_597delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC
c.375+21_429delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC
c.465+21_519delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC
c.215+21_269delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC
c.62+21_116delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC
n.79+21_133delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC
c.408+21_462delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC
c.552+21_606delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC
n.465+21_519delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC
n.566+21_620delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC
n.866+21_920delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC
c.495+21_549delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC
n.815+21_869delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC
n.856+21_910delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC
n.868+21_922delinsTACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC
15g.40410819_40411313delinsGTTGCA658658283IVDc.366+22_420delinsGTTG
c.456+22_510delinsGTTG
c.543+22_597delinsGTTG
c.375+22_429delinsGTTG
c.465+22_519delinsGTTG
c.215+22_269delinsGTTG
c.62+22_116delinsGTTG
n.79+22_133delinsGTTG
c.408+22_462delinsGTTG
c.552+22_606delinsGTTG
n.465+22_519delinsGTTG
n.566+22_620delinsGTTG
n.866+22_920delinsGTTG
c.495+22_549delinsGTTG
n.815+22_869delinsGTTG
n.856+22_910delinsGTTG
n.868+22_922delinsGTTG
 ClinVar dbSNP
15g.40411256G>ACA2499222908IVDc.367-4G>A (n.367-4G>A)
c.457-4G>A (n.457-4G>A)
c.544-4G>A (n.544-4G>A)
c.376-4G>A (n.376-4G>A)
c.466-4G>A (n.466-4G>A)
c.216-4G>A
c.63-4G>A
n.80-4G>A
c.409-4G>A (n.409-4G>A)
c.553-4G>A (n.553-4G>A)
n.466-4G>A
n.567-4G>A
n.867-4G>A
c.496-4G>A (n.496-4G>A)
n.816-4G>A
n.857-4G>A
n.869-4G>A
 ClinVar dbSNP gnomAD v4
15g.40411257C=CA2171765782IVDc.367-3C= (n.367-3C=)
c.457-3C= (n.457-3C=)
c.544-3C= (n.544-3C=)
c.376-3C= (n.376-3C=)
c.466-3C= (n.466-3C=)
c.216-3C=
c.63-3C=
n.80-3C=
c.409-3C= (n.409-3C=)
c.553-3C= (n.553-3C=)
n.466-3C=
n.567-3C=
n.867-3C=
c.496-3C= (n.496-3C=)
n.816-3C=
n.857-3C=
n.869-3C=
15g.40411257C>GCA7480641IVDc.367-3C>G (n.367-3C>G)
c.457-3C>G (n.457-3C>G)
c.544-3C>G (n.544-3C>G)
c.376-3C>G (n.376-3C>G)
c.466-3C>G (n.466-3C>G)
c.216-3C>G
c.63-3C>G
n.80-3C>G
c.409-3C>G (n.409-3C>G)
c.553-3C>G (n.553-3C>G)
n.466-3C>G
n.567-3C>G
n.867-3C>G
c.496-3C>G (n.496-3C>G)
n.816-3C>G
n.857-3C>G
n.869-3C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40411257C>TCA2580089366IVDc.367-3C>T (n.367-3C>T)
c.457-3C>T (n.457-3C>T)
c.544-3C>T (n.544-3C>T)
c.376-3C>T (n.376-3C>T)
c.466-3C>T (n.466-3C>T)
c.216-3C>T
c.63-3C>T
n.80-3C>T
c.409-3C>T (n.409-3C>T)
c.553-3C>T (n.553-3C>T)
n.466-3C>T
n.567-3C>T
n.867-3C>T
c.496-3C>T (n.496-3C>T)
n.816-3C>T
n.857-3C>T
n.869-3C>T
 ClinVar gnomAD v4
15g.40411257_40411258delinsCACA2171765783IVDc.367-3_367-2delinsCA (n.367-3_367-2delinsCA)
c.457-3_457-2delinsCA (n.457-3_457-2delinsCA)
c.544-3_544-2delinsCA (n.544-3_544-2delinsCA)
c.376-3_376-2delinsCA (n.376-3_376-2delinsCA)
c.466-3_466-2delinsCA (n.466-3_466-2delinsCA)
c.216-3_216-2delinsCA
c.63-3_63-2delinsCA
n.80-3_80-2delinsCA
c.409-3_409-2delinsCA (n.409-3_409-2delinsCA)
c.553-3_553-2delinsCA (n.553-3_553-2delinsCA)
n.466-3_466-2delinsCA
n.567-3_567-2delinsCA
n.867-3_867-2delinsCA
c.496-3_496-2delinsCA (n.496-3_496-2delinsCA)
n.816-3_816-2delinsCA
n.857-3_857-2delinsCA
n.869-3_869-2delinsCA
15g.40411257_40411258delinsGGCA273890IVDc.367-3_367-2delinsGG (n.367-3_367-2delinsGG)
c.457-3_457-2delinsGG (n.457-3_457-2delinsGG)
c.544-3_544-2delinsGG (n.544-3_544-2delinsGG)
c.376-3_376-2delinsGG (n.376-3_376-2delinsGG)
c.466-3_466-2delinsGG (n.466-3_466-2delinsGG)
c.216-3_216-2delinsGG
c.63-3_63-2delinsGG
n.80-3_80-2delinsGG
c.409-3_409-2delinsGG (n.409-3_409-2delinsGG)
c.553-3_553-2delinsGG (n.553-3_553-2delinsGG)
n.466-3_466-2delinsGG
n.567-3_567-2delinsGG
n.867-3_867-2delinsGG
c.496-3_496-2delinsGG (n.496-3_496-2delinsGG)
n.816-3_816-2delinsGG
n.857-3_857-2delinsGG
n.869-3_869-2delinsGG
 ClinVar dbSNP
15g.40411258A=CA2171765784IVDc.367-2A= (n.367-2A=)
c.457-2A= (n.457-2A=)
c.544-2A= (n.544-2A=)
c.376-2A= (n.376-2A=)
c.466-2A= (n.466-2A=)
c.216-2A=
c.63-2A=
n.80-2A=
c.409-2A= (n.409-2A=)
c.553-2A= (n.553-2A=)
n.466-2A=
n.567-2A=
n.867-2A=
c.496-2A= (n.496-2A=)
n.816-2A=
n.857-2A=
n.869-2A=
15g.40411258A>CCA7480642IVDc.367-2A>C (n.367-2A>C)
c.457-2A>C (n.457-2A>C)
c.544-2A>C (n.544-2A>C)
c.376-2A>C (n.376-2A>C)
c.466-2A>C (n.466-2A>C)
c.216-2A>C
c.63-2A>C
n.80-2A>C
c.409-2A>C (n.409-2A>C)
c.553-2A>C (n.553-2A>C)
n.466-2A>C
n.567-2A>C
n.867-2A>C
c.496-2A>C (n.496-2A>C)
n.816-2A>C
n.857-2A>C
n.869-2A>C
 ClinVar dbSNP ExAC gnomAD v2
15g.40411258A>GCA273883IVDc.367-2A>G (n.367-2A>G)
c.457-2A>G (n.457-2A>G)
c.544-2A>G (n.544-2A>G)
c.376-2A>G (n.376-2A>G)
c.466-2A>G (n.466-2A>G)
c.216-2A>G
c.63-2A>G
n.80-2A>G
c.409-2A>G (n.409-2A>G)
c.553-2A>G (n.553-2A>G)
n.466-2A>G
n.567-2A>G
n.867-2A>G
c.496-2A>G (n.496-2A>G)
n.816-2A>G
n.857-2A>G
n.869-2A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.40411258A>TCA391716911IVDc.367-2A>T (n.367-2A>T)
c.457-2A>T (n.457-2A>T)
c.544-2A>T (n.544-2A>T)
c.376-2A>T (n.376-2A>T)
c.466-2A>T (n.466-2A>T)
c.216-2A>T
c.63-2A>T
n.80-2A>T
c.409-2A>T (n.409-2A>T)
c.553-2A>T (n.553-2A>T)
n.466-2A>T
n.567-2A>T
n.867-2A>T
c.496-2A>T (n.496-2A>T)
n.816-2A>T
n.857-2A>T
n.869-2A>T
 ClinVar dbSNP
15g.40411259G>ACA391716914IVDc.367-1G>A (n.367-1G>A)
c.457-1G>A (n.457-1G>A)
c.544-1G>A (n.544-1G>A)
c.376-1G>A (n.376-1G>A)
c.466-1G>A (n.466-1G>A)
c.216-1G>A
c.63-1G>A
n.80-1G>A
c.409-1G>A (n.409-1G>A)
c.553-1G>A (n.553-1G>A)
n.466-1G>A
n.567-1G>A
n.867-1G>A
c.496-1G>A (n.496-1G>A)
n.816-1G>A
n.857-1G>A
n.869-1G>A
 ClinVar
15g.40411259G>CCA7480643IVDc.367-1G>C (n.367-1G>C)
c.457-1G>C (n.457-1G>C)
c.544-1G>C (n.544-1G>C)
c.376-1G>C (n.376-1G>C)
c.466-1G>C (n.466-1G>C)
c.216-1G>C
c.63-1G>C
n.80-1G>C
c.409-1G>C (n.409-1G>C)
c.553-1G>C (n.553-1G>C)
n.466-1G>C
n.567-1G>C
n.867-1G>C
c.496-1G>C (n.496-1G>C)
n.816-1G>C
n.857-1G>C
n.869-1G>C
 dbSNP ExAC gnomAD v2
15g.40411259G=CA2171765785IVDc.367-1G= (n.367-1G=)
c.457-1G= (n.457-1G=)
c.544-1G= (n.544-1G=)
c.376-1G= (n.376-1G=)
c.466-1G= (n.466-1G=)
c.216-1G=
c.63-1G=
n.80-1G=
c.409-1G= (n.409-1G=)
c.553-1G= (n.553-1G=)
n.466-1G=
n.567-1G=
n.867-1G=
c.496-1G= (n.496-1G=)
n.816-1G=
n.857-1G=
n.869-1G=
15g.40411259G>TCA391716916IVDc.367-1G>T (n.367-1G>T)
c.457-1G>T (n.457-1G>T)
c.544-1G>T (n.544-1G>T)
c.376-1G>T (n.376-1G>T)
c.466-1G>T (n.466-1G>T)
c.216-1G>T
c.63-1G>T
n.80-1G>T
c.409-1G>T (n.409-1G>T)
c.553-1G>T (n.553-1G>T)
n.466-1G>T
n.567-1G>T
n.867-1G>T
c.496-1G>T (n.496-1G>T)
n.816-1G>T
n.857-1G>T
n.869-1G>T
15g.40411260C>ACA391716919IVDc.367C>A (p.Leu123Met)
c.457C>A (p.Leu153Met)
c.544C>A (p.Leu182Met)
c.376C>A (p.Leu126Met)
c.466C>A (p.Leu156Met)
c.216C>A
c.63C>A
n.80C>A
c.409C>A (p.Leu137Met)
c.553C>A (p.Leu185Met)
n.466C>A
n.567C>A
n.867C>A
c.496C>A (p.Leu166Met)
n.816C>A
n.857C>A
n.869C>A
15g.40411260C=CA2171765786IVDc.367C= (p.Leu123=)
c.457C= (p.Leu153=)
c.544C= (p.Leu182=)
c.376C= (p.Leu126=)
c.466C= (p.Leu156=)
c.216C=
c.63C=
n.80C=
c.409C= (p.Leu137=)
c.553C= (p.Leu185=)
n.466C=
n.567C=
n.867C=
c.496C= (p.Leu166=)
n.816C=
n.857C=
n.869C=
15g.40411260C>GCA391716921IVDc.367C>G (p.Leu123Val)
c.457C>G (p.Leu153Val)
c.544C>G (p.Leu182Val)
c.376C>G (p.Leu126Val)
c.466C>G (p.Leu156Val)
c.216C>G
c.63C>G
n.80C>G
c.409C>G (p.Leu137Val)
c.553C>G (p.Leu185Val)
n.466C>G
n.567C>G
n.867C>G
c.496C>G (p.Leu166Val)
n.816C>G
n.857C>G
n.869C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.40411260C>TCA7480644IVDc.367C>T (p.Leu123=)
c.457C>T (p.Leu153=)
c.544C>T (p.Leu182=)
c.376C>T (p.Leu126=)
c.466C>T (p.Leu156=)
c.216C>T
c.63C>T
n.80C>T
c.409C>T (p.Leu137=)
c.553C>T (p.Leu185=)
n.466C>T
n.567C>T
n.867C>T
c.496C>T (p.Leu166=)
n.816C>T
n.857C>T
n.869C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40411261T>ACA391716925IVDc.368T>A (p.Leu123Gln)
c.458T>A (p.Leu153Gln)
c.545T>A (p.Leu182Gln)
c.377T>A (p.Leu126Gln)
c.467T>A (p.Leu156Gln)
c.217T>A
c.64T>A
n.81T>A
c.410T>A (p.Leu137Gln)
c.554T>A (p.Leu185Gln)
n.467T>A
n.568T>A
n.868T>A
c.497T>A (p.Leu166Gln)
n.817T>A
n.858T>A
n.870T>A
15g.40411261T>CCA391716927IVDc.368T>C (p.Leu123Pro)
c.458T>C (p.Leu153Pro)
c.545T>C (p.Leu182Pro)
c.377T>C (p.Leu126Pro)
c.467T>C (p.Leu156Pro)
c.217T>C
c.64T>C
n.81T>C
c.410T>C (p.Leu137Pro)
c.554T>C (p.Leu185Pro)
n.467T>C
n.568T>C
n.868T>C
c.497T>C (p.Leu166Pro)
n.817T>C
n.858T>C
n.870T>C
15g.40411261T>GCA391716929IVDc.368T>G (p.Leu123Arg)
c.458T>G (p.Leu153Arg)
c.545T>G (p.Leu182Arg)
c.377T>G (p.Leu126Arg)
c.467T>G (p.Leu156Arg)
c.217T>G
c.64T>G
n.81T>G
c.410T>G (p.Leu137Arg)
c.554T>G (p.Leu185Arg)
n.467T>G
n.568T>G
n.868T>G
c.497T>G (p.Leu166Arg)
n.817T>G
n.858T>G
n.870T>G
15g.40411262G>ACA268780144IVDc.369G>A (p.Leu123=)
c.459G>A (p.Leu153=)
c.546G>A (p.Leu182=)
c.378G>A (p.Leu126=)
c.468G>A (p.Leu156=)
c.218G>A
c.65G>A
n.82G>A
c.411G>A (p.Leu137=)
c.555G>A (p.Leu185=)
n.468G>A
n.569G>A
n.869G>A
c.498G>A (p.Leu166=)
n.818G>A
n.859G>A
n.871G>A
 dbSNP
15g.40411262G>CCA489739798IVDc.369G>C (p.Leu123=)
c.459G>C (p.Leu153=)
c.546G>C (p.Leu182=)
c.378G>C (p.Leu126=)
c.468G>C (p.Leu156=)
c.218G>C
c.65G>C
n.82G>C
c.411G>C (p.Leu137=)
c.555G>C (p.Leu185=)
n.468G>C
n.569G>C
n.869G>C
c.498G>C (p.Leu166=)
n.818G>C
n.859G>C
n.871G>C
 ClinVar dbSNP gnomAD v4
15g.40411262G=CA2171765787IVDc.369G= (p.Leu123=)
c.459G= (p.Leu153=)
c.546G= (p.Leu182=)
c.378G= (p.Leu126=)
c.468G= (p.Leu156=)
c.218G=
c.65G=
n.82G=
c.411G= (p.Leu137=)
c.555G= (p.Leu185=)
n.468G=
n.569G=
n.869G=
c.498G= (p.Leu166=)
n.818G=
n.859G=
n.871G=
15g.40411262G>TCA489739795IVDc.369G>T (p.Leu123=)
c.459G>T (p.Leu153=)
c.546G>T (p.Leu182=)
c.378G>T (p.Leu126=)
c.468G>T (p.Leu156=)
c.218G>T
c.65G>T
n.82G>T
c.411G>T (p.Leu137=)
c.555G>T (p.Leu185=)
n.468G>T
n.569G>T
n.869G>T
c.498G>T (p.Leu166=)
n.818G>T
n.859G>T
n.871G>T
15g.40411263A=CA2171765788IVDc.370A= (p.Ile124=)
c.460A= (p.Ile154=)
c.547A= (p.Ile183=)
c.379A= (p.Ile127=)
c.469A= (p.Ile157=)
c.219A=
c.66A=
n.83A=
c.412A= (p.Ile138=)
c.556A= (p.Ile186=)
n.469A=
n.570A=
n.870A=
c.499A= (p.Ile167=)
n.819A=
n.860A=
n.872A=
15g.40411263A>CCA391716933IVDc.370A>C (p.Ile124Leu)
c.460A>C (p.Ile154Leu)
c.547A>C (p.Ile183Leu)
c.379A>C (p.Ile127Leu)
c.469A>C (p.Ile157Leu)
c.219A>C
c.66A>C
n.83A>C
c.412A>C (p.Ile138Leu)
c.556A>C (p.Ile186Leu)
n.469A>C
n.570A>C
n.870A>C
c.499A>C (p.Ile167Leu)
n.819A>C
n.860A>C
n.872A>C
15g.40411263A>GCA391716935IVDc.370A>G (p.Ile124Val)
c.460A>G (p.Ile154Val)
c.547A>G (p.Ile183Val)
c.379A>G (p.Ile127Val)
c.469A>G (p.Ile157Val)
c.219A>G
c.66A>G
n.83A>G
c.412A>G (p.Ile138Val)
c.556A>G (p.Ile186Val)
n.469A>G
n.570A>G
n.870A>G
c.499A>G (p.Ile167Val)
n.819A>G
n.860A>G
n.872A>G
 dbSNP gnomAD v3 gnomAD v4
15g.40411263A>TCA391716936IVDc.370A>T (p.Ile124Phe)
c.460A>T (p.Ile154Phe)
c.547A>T (p.Ile183Phe)
c.379A>T (p.Ile127Phe)
c.469A>T (p.Ile157Phe)
c.219A>T
c.66A>T
n.83A>T
c.412A>T (p.Ile138Phe)
c.556A>T (p.Ile186Phe)
n.469A>T
n.570A>T
n.870A>T
c.499A>T (p.Ile167Phe)
n.819A>T
n.860A>T
n.872A>T
15g.40411264T>ACA391716943IVDc.371T>A (p.Ile124Asn)
c.461T>A (p.Ile154Asn)
c.548T>A (p.Ile183Asn)
c.380T>A (p.Ile127Asn)
c.470T>A (p.Ile157Asn)
c.220T>A
c.67T>A
n.84T>A
c.413T>A (p.Ile138Asn)
c.557T>A (p.Ile186Asn)
n.470T>A
n.571T>A
n.871T>A
c.500T>A (p.Ile167Asn)
n.820T>A
n.861T>A
n.873T>A
15g.40411264T>CCA391716941IVDc.371T>C (p.Ile124Thr)
c.461T>C (p.Ile154Thr)
c.548T>C (p.Ile183Thr)
c.380T>C (p.Ile127Thr)
c.470T>C (p.Ile157Thr)
c.220T>C
c.67T>C
n.84T>C
c.413T>C (p.Ile138Thr)
c.557T>C (p.Ile186Thr)
n.470T>C
n.571T>C
n.871T>C
c.500T>C (p.Ile167Thr)
n.820T>C
n.861T>C
n.873T>C
15g.40411264T>GCA391716940IVDc.371T>G (p.Ile124Ser)
c.461T>G (p.Ile154Ser)
c.548T>G (p.Ile183Ser)
c.380T>G (p.Ile127Ser)
c.470T>G (p.Ile157Ser)
c.220T>G
c.67T>G
n.84T>G
c.413T>G (p.Ile138Ser)
c.557T>G (p.Ile186Ser)
n.470T>G
n.571T>G
n.871T>G
c.500T>G (p.Ile167Ser)
n.820T>G
n.861T>G
n.873T>G
15g.40411265C>ACA489739809IVDc.372C>A (p.Ile124=)
c.462C>A (p.Ile154=)
c.549C>A (p.Ile183=)
c.381C>A (p.Ile127=)
c.471C>A (p.Ile157=)
c.221C>A
c.68C>A
n.85C>A
c.414C>A (p.Ile138=)
c.558C>A (p.Ile186=)
n.471C>A
n.572C>A
n.872C>A
c.501C>A (p.Ile167=)
n.821C>A
n.862C>A
n.874C>A
 ClinVar
15g.40411265C=CA2171765789IVDc.372C= (p.Ile124=)
c.462C= (p.Ile154=)
c.549C= (p.Ile183=)
c.381C= (p.Ile127=)
c.471C= (p.Ile157=)
c.221C=
c.68C=
n.85C=
c.414C= (p.Ile138=)
c.558C= (p.Ile186=)
n.471C=
n.572C=
n.872C=
c.501C= (p.Ile167=)
n.821C=
n.862C=
n.874C=
15g.40411265C>GCA391716946IVDc.372C>G (p.Ile124Met)
c.462C>G (p.Ile154Met)
c.549C>G (p.Ile183Met)
c.381C>G (p.Ile127Met)
c.471C>G (p.Ile157Met)
c.221C>G
c.68C>G
n.85C>G
c.414C>G (p.Ile138Met)
c.558C>G (p.Ile186Met)
n.471C>G
n.572C>G
n.872C>G
c.501C>G (p.Ile167Met)
n.821C>G
n.862C>G
n.874C>G
15g.40411265C>TCA489739814IVDc.372C>T (p.Ile124=)
c.462C>T (p.Ile154=)
c.549C>T (p.Ile183=)
c.381C>T (p.Ile127=)
c.471C>T (p.Ile157=)
c.221C>T
c.68C>T
n.85C>T
c.414C>T (p.Ile138=)
c.558C>T (p.Ile186=)
n.471C>T
n.572C>T
n.872C>T
c.501C>T (p.Ile167=)
n.821C>T
n.862C>T
n.874C>T
 dbSNP gnomAD v4
15g.40411266A=CA2171765790IVDc.373A= (p.Ser125=)
c.463A= (p.Ser155=)
c.550A= (p.Ser184=)
c.382A= (p.Ser128=)
c.472A= (p.Ser158=)
c.222A=
c.69A=
n.86A=
c.415A= (p.Ser139=)
c.559A= (p.Ser187=)
n.472A=
n.573A=
n.873A=
c.502A= (p.Ser168=)
n.822A=
n.863A=
n.875A=
15g.40411266A>CCA391716948IVDc.373A>C (p.Ser125Arg)
c.463A>C (p.Ser155Arg)
c.550A>C (p.Ser184Arg)
c.382A>C (p.Ser128Arg)
c.472A>C (p.Ser158Arg)
c.222A>C
c.69A>C
n.86A>C
c.415A>C (p.Ser139Arg)
c.559A>C (p.Ser187Arg)
n.472A>C
n.573A>C
n.873A>C
c.502A>C (p.Ser168Arg)
n.822A>C
n.863A>C
n.875A>C
15g.40411266A>GCA391716950IVDc.373A>G (p.Ser125Gly)
c.463A>G (p.Ser155Gly)
c.550A>G (p.Ser184Gly)
c.382A>G (p.Ser128Gly)
c.472A>G (p.Ser158Gly)
c.222A>G
c.69A>G
n.86A>G
c.415A>G (p.Ser139Gly)
c.559A>G (p.Ser187Gly)
n.472A>G
n.573A>G
n.873A>G
c.502A>G (p.Ser168Gly)
n.822A>G
n.863A>G
n.875A>G
 gnomAD v4
15g.40411266A>TCA391716952IVDc.373A>T (p.Ser125Cys)
c.463A>T (p.Ser155Cys)
c.550A>T (p.Ser184Cys)
c.382A>T (p.Ser128Cys)
c.472A>T (p.Ser158Cys)
c.222A>T
c.69A>T
n.86A>T
c.415A>T (p.Ser139Cys)
c.559A>T (p.Ser187Cys)
n.472A>T
n.573A>T
n.873A>T
c.502A>T (p.Ser168Cys)
n.822A>T
n.863A>T
n.875A>T
15g.40411267G>ACA7480645IVDc.374G>A (p.Ser125Asn)
c.464G>A (p.Ser155Asn)
c.551G>A (p.Ser184Asn)
c.383G>A (p.Ser128Asn)
c.473G>A (p.Ser158Asn)
c.223G>A
c.70G>A
n.87G>A
c.416G>A (p.Ser139Asn)
c.560G>A (p.Ser187Asn)
n.473G>A
n.574G>A
n.874G>A
c.503G>A (p.Ser168Asn)
n.823G>A
n.864G>A
n.876G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40411267G>CCA391716958IVDc.374G>C (p.Ser125Thr)
c.464G>C (p.Ser155Thr)
c.551G>C (p.Ser184Thr)
c.383G>C (p.Ser128Thr)
c.473G>C (p.Ser158Thr)
c.223G>C
c.70G>C
n.87G>C
c.416G>C (p.Ser139Thr)
c.560G>C (p.Ser187Thr)
n.473G>C
n.574G>C
n.874G>C
c.503G>C (p.Ser168Thr)
n.823G>C
n.864G>C
n.876G>C
15g.40411267G=CA2171765791IVDc.374G= (p.Ser125=)
c.464G= (p.Ser155=)
c.551G= (p.Ser184=)
c.383G= (p.Ser128=)
c.473G= (p.Ser158=)
c.223G=
c.70G=
n.87G=
c.416G= (p.Ser139=)
c.560G= (p.Ser187=)
n.473G=
n.574G=
n.874G=
c.503G= (p.Ser168=)
n.823G=
n.864G=
n.876G=
15g.40411267G>TCA391716961IVDc.374G>T (p.Ser125Ile)
c.464G>T (p.Ser155Ile)
c.551G>T (p.Ser184Ile)
c.383G>T (p.Ser128Ile)
c.473G>T (p.Ser158Ile)
c.223G>T
c.70G>T
n.87G>T
c.416G>T (p.Ser139Ile)
c.560G>T (p.Ser187Ile)
n.473G>T
n.574G>T
n.874G>T
c.503G>T (p.Ser168Ile)
n.823G>T
n.864G>T
n.876G>T
 dbSNP
15g.40411270_40411272dupCA312667IVDc.377_379dup (p.Gly126_Glu127insGly)
c.467_469dup (p.Gly156_Glu157insGly)
c.554_556dup (p.Gly185_Glu186insGly)
c.386_388dup (p.Gly129_Glu130insGly)
c.476_478dup (p.Gly159_Glu160insGly)
c.226_228dup
c.73_75dup
n.90_92dup
c.419_421dup (p.Gly140_Glu141insGly)
c.563_565dup (p.Gly188_Glu189insGly)
n.476_478dup
n.577_579dup
n.877_879dup
c.506_508dup (p.Gly169_Glu170insGly)
n.826_828dup
n.867_869dup
n.879_881dup
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.40411268T>ACA391716965IVDc.375T>A (p.Ser125Arg)
c.465T>A (p.Ser155Arg)
c.552T>A (p.Ser184Arg)
c.384T>A (p.Ser128Arg)
c.474T>A (p.Ser158Arg)
c.224T>A
c.71T>A
n.88T>A
c.417T>A (p.Ser139Arg)
c.561T>A (p.Ser187Arg)
n.474T>A
n.575T>A
n.875T>A
c.504T>A (p.Ser168Arg)
n.824T>A
n.865T>A
n.877T>A
15g.40411268T>CCA489739834IVDc.375T>C (p.Ser125=)
c.465T>C (p.Ser155=)
c.552T>C (p.Ser184=)
c.384T>C (p.Ser128=)
c.474T>C (p.Ser158=)
c.224T>C
c.71T>C
n.88T>C
c.417T>C (p.Ser139=)
c.561T>C (p.Ser187=)
n.474T>C
n.575T>C
n.875T>C
c.504T>C (p.Ser168=)
n.824T>C
n.865T>C
n.877T>C
 dbSNP gnomAD v3 gnomAD v4
15g.40411268T>GCA391716967IVDc.375T>G (p.Ser125Arg)
c.465T>G (p.Ser155Arg)
c.552T>G (p.Ser184Arg)
c.384T>G (p.Ser128Arg)
c.474T>G (p.Ser158Arg)
c.224T>G
c.71T>G
n.88T>G
c.417T>G (p.Ser139Arg)
c.561T>G (p.Ser187Arg)
n.474T>G
n.575T>G
n.875T>G
c.504T>G (p.Ser168Arg)
n.824T>G
n.865T>G
n.877T>G

Number of alleles fetched