Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.127661096T>ACA1129256372STXBP1c.284-6T>A (n.284-6T>A)
c.326-6T>A (n.326-6T>A)
c.349-6T>A (n.349-6T>A)
c.*1190-6T>A (n.*1190-6T>A)
c.268-6T>A
c.215-6T>A (n.215-6T>A)
c.326-15T>A (n.326-15T>A)
 dbSNP gnomAD v3 gnomAD v4
9g.127661096T=CA1879906643STXBP1c.284-6T= (n.284-6T=)
c.326-6T= (n.326-6T=)
c.349-6T= (n.349-6T=)
c.*1190-6T= (n.*1190-6T=)
c.268-6T=
c.215-6T= (n.215-6T=)
c.326-15T= (n.326-15T=)
9g.127661098G>ACA16605543STXBP1c.284-4G>A (n.284-4G>A)
c.326-4G>A (n.326-4G>A)
c.349-4G>A (n.349-4G>A)
c.*1190-4G>A (n.*1190-4G>A)
c.268-4G>A
c.215-4G>A (n.215-4G>A)
c.326-13G>A (n.326-13G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127661098G=CA1879906645STXBP1c.284-4G= (n.284-4G=)
c.326-4G= (n.326-4G=)
c.349-4G= (n.349-4G=)
c.*1190-4G= (n.*1190-4G=)
c.268-4G=
c.215-4G= (n.215-4G=)
c.326-13G= (n.326-13G=)
9g.127661098G>TCA1129256382STXBP1c.284-4G>T (n.284-4G>T)
c.326-4G>T (n.326-4G>T)
c.349-4G>T (n.349-4G>T)
c.*1190-4G>T (n.*1190-4G>T)
c.268-4G>T
c.215-4G>T (n.215-4G>T)
c.326-13G>T (n.326-13G>T)
 dbSNP
9g.127661100A>CCA374932132STXBP1c.284-2A>C (n.284-2A>C)
c.326-2A>C (n.326-2A>C)
c.349-2A>C (n.349-2A>C)
c.*1190-2A>C (n.*1190-2A>C)
c.268-2A>C
c.215-2A>C (n.215-2A>C)
c.326-11A>C (n.326-11A>C)
9g.127661100A>GCA374932133STXBP1c.284-2A>G (n.284-2A>G)
c.326-2A>G (n.326-2A>G)
c.349-2A>G (n.349-2A>G)
c.*1190-2A>G (n.*1190-2A>G)
c.268-2A>G
c.215-2A>G (n.215-2A>G)
c.326-11A>G (n.326-11A>G)
9g.127661100A>TCA374932134STXBP1c.284-2A>T (n.284-2A>T)
c.326-2A>T (n.326-2A>T)
c.349-2A>T (n.349-2A>T)
c.*1190-2A>T (n.*1190-2A>T)
c.268-2A>T
c.215-2A>T (n.215-2A>T)
c.326-11A>T (n.326-11A>T)
9g.127661101G>ACA374932139STXBP1c.284-1G>A (n.284-1G>A)
c.326-1G>A (n.326-1G>A)
c.349-1G>A (n.349-1G>A)
c.*1190-1G>A (n.*1190-1G>A)
c.268-1G>A
c.215-1G>A (n.215-1G>A)
c.326-10G>A (n.326-10G>A)
9g.127661101G>CCA374932137STXBP1c.284-1G>C (n.284-1G>C)
c.326-1G>C (n.326-1G>C)
c.349-1G>C (n.349-1G>C)
c.*1190-1G>C (n.*1190-1G>C)
c.268-1G>C
c.215-1G>C (n.215-1G>C)
c.326-10G>C (n.326-10G>C)
9g.127661101G=CA1879906650STXBP1c.284-1G= (n.284-1G=)
c.326-1G= (n.326-1G=)
c.349-1G= (n.349-1G=)
c.*1190-1G= (n.*1190-1G=)
c.268-1G=
c.215-1G= (n.215-1G=)
c.326-10G= (n.326-10G=)
9g.127661101G>TCA374932136STXBP1c.284-1G>T (n.284-1G>T)
c.326-1G>T (n.326-1G>T)
c.349-1G>T (n.349-1G>T)
c.*1190-1G>T (n.*1190-1G>T)
c.268-1G>T
c.215-1G>T (n.215-1G>T)
c.326-10G>T (n.326-10G>T)
 ClinVar dbSNP
9g.127661102C>ACA374932141STXBP1c.284C>A (p.Ser95Tyr)
c.326C>A (p.Ser109Tyr)
c.349C>A (p.Leu117Ile)
c.*1190C>A (n.*1190C>A)
c.268C>A
c.215C>A (p.Ser72Tyr)
c.326-9C>A (n.326-9C>A)
9g.127661102C>GCA374932143STXBP1c.284C>G (p.Ser95Cys)
c.326C>G (p.Ser109Cys)
c.349C>G (p.Leu117Val)
c.*1190C>G (n.*1190C>G)
c.268C>G
c.215C>G (p.Ser72Cys)
c.326-9C>G (n.326-9C>G)
9g.127661102C>TCA374932145STXBP1c.284C>T (p.Ser95Phe)
c.326C>T (p.Ser109Phe)
c.349C>T (p.Leu117Phe)
c.*1190C>T (n.*1190C>T)
c.268C>T
c.215C>T (p.Ser72Phe)
c.326-9C>T (n.326-9C>T)
9g.127661103T>ACA467220977STXBP1c.285T>A (p.Ser95=)
c.327T>A (p.Ser109=)
c.350T>A (p.Leu117His)
c.*1191T>A (n.*1191T>A)
c.269T>A
c.216T>A (p.Ser72=)
c.326-8T>A (n.326-8T>A)
9g.127661103T>CCA467220978STXBP1c.285T>C (p.Ser95=)
c.327T>C (p.Ser109=)
c.350T>C (p.Leu117Pro)
c.*1191T>C (n.*1191T>C)
c.269T>C
c.216T>C (p.Ser72=)
c.326-8T>C (n.326-8T>C)
9g.127661103T>GCA467220980STXBP1c.285T>G (p.Ser95=)
c.327T>G (p.Ser109=)
c.350T>G (p.Leu117Arg)
c.*1191T>G (n.*1191T>G)
c.269T>G
c.216T>G (p.Ser72=)
c.326-8T>G (n.326-8T>G)
9g.127661104T>ACA374932147STXBP1c.286T>A (p.Cys96Ser)
c.328T>A (p.Cys110Ser)
c.351T>A (p.Leu117=)
c.*1192T>A (n.*1192T>A)
c.270T>A
c.217T>A (p.Cys73Ser)
c.326-7T>A (n.326-7T>A)
9g.127661104T>CCA374932148STXBP1c.286T>C (p.Cys96Arg)
c.328T>C (p.Cys110Arg)
c.351T>C (p.Leu117=)
c.*1192T>C (n.*1192T>C)
c.270T>C
c.217T>C (p.Cys73Arg)
c.326-7T>C (n.326-7T>C)
 ClinVar dbSNP
9g.127661104T>GCA374932150STXBP1c.286T>G (p.Cys96Gly)
c.328T>G (p.Cys110Gly)
c.351T>G (p.Leu117=)
c.*1192T>G (n.*1192T>G)
c.270T>G
c.217T>G (p.Cys73Gly)
c.326-7T>G (n.326-7T>G)
9g.127661105G>ACA374932152STXBP1c.287G>A (p.Cys96Tyr)
c.329G>A (p.Cys110Tyr)
c.352G>A (p.Val118Ile)
c.*1193G>A (n.*1193G>A)
c.271G>A
c.218G>A (p.Cys73Tyr)
c.326-6G>A (n.326-6G>A)
9g.127661105G>CCA374932154STXBP1c.287G>C (p.Cys96Ser)
c.329G>C (p.Cys110Ser)
c.352G>C (p.Val118Leu)
c.*1193G>C (n.*1193G>C)
c.271G>C
c.218G>C (p.Cys73Ser)
c.326-6G>C (n.326-6G>C)
9g.127661105G>TCA374932153STXBP1c.287G>T (p.Cys96Phe)
c.329G>T (p.Cys110Phe)
c.352G>T (p.Val118Phe)
c.*1193G>T (n.*1193G>T)
c.271G>T
c.218G>T (p.Cys73Phe)
c.326-6G>T (n.326-6G>T)
9g.127661106T>ACA374932156STXBP1c.288T>A (p.Cys96Ter)
c.330T>A (p.Cys110Ter)
c.353T>A (p.Val118Asp)
c.*1194T>A (n.*1194T>A)
c.272T>A
c.219T>A (p.Cys73Ter)
c.326-5T>A (n.326-5T>A)
9g.127661106T>CCA467221003STXBP1c.288T>C (p.Cys96=)
c.330T>C (p.Cys110=)
c.353T>C (p.Val118Ala)
c.*1194T>C (n.*1194T>C)
c.272T>C
c.219T>C (p.Cys73=)
c.326-5T>C (n.326-5T>C)
9g.127661106T>GCA374932158STXBP1c.288T>G (p.Cys96Trp)
c.330T>G (p.Cys110Trp)
c.353T>G (p.Val118Gly)
c.*1194T>G (n.*1194T>G)
c.272T>G
c.219T>G (p.Cys73Trp)
c.326-5T>G (n.326-5T>G)
9g.127661107C>ACA374932160STXBP1c.289C>A (p.Pro97Thr)
c.331C>A (p.Pro111Thr)
c.354C>A (p.Val118=)
c.*1195C>A (n.*1195C>A)
c.273C>A
c.220C>A (p.Pro74Thr)
c.326-4C>A (n.326-4C>A)
9g.127661107C=CA1879906654STXBP1c.289C= (p.Pro97=)
c.331C= (p.Pro111=)
c.354C= (p.Val118=)
c.*1195C= (n.*1195C=)
c.273C=
c.220C= (p.Pro74=)
c.326-4C= (n.326-4C=)
9g.127661107C>GCA374932162STXBP1c.289C>G (p.Pro97Ala)
c.331C>G (p.Pro111Ala)
c.354C>G (p.Val118=)
c.*1195C>G (n.*1195C>G)
c.273C>G
c.220C>G (p.Pro74Ala)
c.326-4C>G (n.326-4C>G)
9g.127661107C>TCA5248300STXBP1c.289C>T (p.Pro97Ser)
c.331C>T (p.Pro111Ser)
c.354C>T (p.Val118=)
c.*1195C>T (n.*1195C>T)
c.273C>T
c.220C>T (p.Pro74Ser)
c.326-4C>T (n.326-4C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127661108C>ACA374932164STXBP1c.290C>A (p.Pro97Gln)
c.332C>A (p.Pro111Gln)
c.355C>A (p.Gln119Lys)
c.*1196C>A (n.*1196C>A)
c.274C>A
c.221C>A (p.Pro74Gln)
c.326-3C>A (n.326-3C>A)
9g.127661108C>GCA374932165STXBP1c.290C>G (p.Pro97Arg)
c.332C>G (p.Pro111Arg)
c.355C>G (p.Gln119Glu)
c.*1196C>G (n.*1196C>G)
c.274C>G
c.221C>G (p.Pro74Arg)
c.326-3C>G (n.326-3C>G)
9g.127661108C>TCA374932167STXBP1c.290C>T (p.Pro97Leu)
c.332C>T (p.Pro111Leu)
c.355C>T (p.Gln119Ter)
c.*1196C>T (n.*1196C>T)
c.274C>T
c.221C>T (p.Pro74Leu)
c.326-3C>T (n.326-3C>T)
9g.127661109A>CCA467221012STXBP1c.291A>C (p.Pro97=)
c.333A>C (p.Pro111=)
c.356A>C (p.Gln119Pro)
c.*1197A>C (n.*1197A>C)
c.275A>C
c.222A>C (p.Pro74=)
c.326-2A>C (n.326-2A>C)
9g.127661109A>GCA467221015STXBP1c.291A>G (p.Pro97=)
c.333A>G (p.Pro111=)
c.356A>G (p.Gln119Arg)
c.*1197A>G (n.*1197A>G)
c.275A>G
c.222A>G (p.Pro74=)
c.326-2A>G (n.326-2A>G)
 gnomAD v4
9g.127661109A>TCA467221018STXBP1c.291A>T (p.Pro97=)
c.333A>T (p.Pro111=)
c.356A>T (p.Gln119Leu)
c.*1197A>T (n.*1197A>T)
c.275A>T
c.222A>T (p.Pro74=)
c.326-2A>T (n.326-2A>T)
9g.127661110_127661111delCA2695211185STXBP1c.292_293del (p.Asp98CysfsTer4)
c.334_335del (p.Asp112CysfsTer4)
c.357_358del (p.Gln119HisfsTer?)
c.*1198_*1199del (n.*1198_*1199del)
c.276_277del
c.223_224del (p.Asp75CysfsTer4)
c.326-1_326del
9g.127661110G>ACA374932169STXBP1c.292G>A (p.Asp98Asn)
c.334G>A (p.Asp112Asn)
c.357G>A (p.Gln119=)
c.*1198G>A (n.*1198G>A)
c.276G>A
c.223G>A (p.Asp75Asn)
c.326-1G>A (n.326-1G>A)
9g.127661110G>CCA374932171STXBP1c.292G>C (p.Asp98His)
c.334G>C (p.Asp112His)
c.357G>C (p.Gln119His)
c.*1198G>C (n.*1198G>C)
c.276G>C
c.223G>C (p.Asp75His)
c.326-1G>C (n.326-1G>C)
 ClinVar dbSNP
9g.127661110G=CA1879906658STXBP1c.292G= (p.Asp98=)
c.334G= (p.Asp112=)
c.357G= (p.Gln119=)
c.*1198G= (n.*1198G=)
c.276G=
c.223G= (p.Asp75=)
c.326-1G= (n.326-1G=)
9g.127661110G>TCA374932173STXBP1c.292G>T (p.Asp98Tyr)
c.334G>T (p.Asp112Tyr)
c.357G>T (p.Gln119His)
c.*1198G>T (n.*1198G>T)
c.276G>T
c.223G>T (p.Asp75Tyr)
c.326-1G>T (n.326-1G>T)
9g.127661111A>CCA374932175STXBP1c.293A>C (p.Asp98Ala)
c.335A>C (p.Asp112Ala)
c.358A>C (p.Met120Leu)
c.*1199A>C (n.*1199A>C)
c.277A>C
c.224A>C (p.Asp75Ala)
c.326A>C (p.Tyr109Ser)
9g.127661111A>GCA374932179STXBP1c.293A>G (p.Asp98Gly)
c.335A>G (p.Asp112Gly)
c.358A>G (p.Met120Val)
c.*1199A>G (n.*1199A>G)
c.277A>G
c.224A>G (p.Asp75Gly)
c.326A>G (p.Tyr109Cys)
9g.127661111A>TCA374932177STXBP1c.293A>T (p.Asp98Val)
c.335A>T (p.Asp112Val)
c.358A>T (p.Met120Leu)
c.*1199A>T (n.*1199A>T)
c.277A>T
c.224A>T (p.Asp75Val)
c.326A>T (p.Tyr109Phe)
9g.127661112T>ACA374932181STXBP1c.294T>A (p.Asp98Glu)
c.336T>A (p.Asp112Glu)
c.359T>A (p.Met120Lys)
c.*1200T>A (n.*1200T>A)
c.278T>A
c.225T>A (p.Asp75Glu)
c.327T>A (p.Tyr109Ter)
9g.127661112T>CCA467221030STXBP1c.294T>C (p.Asp98=)
c.336T>C (p.Asp112=)
c.359T>C (p.Met120Thr)
c.*1200T>C (n.*1200T>C)
c.278T>C
c.225T>C (p.Asp75=)
c.327T>C (p.Tyr109=)
9g.127661112T>GCA374932183STXBP1c.294T>G (p.Asp98Glu)
c.336T>G (p.Asp112Glu)
c.359T>G (p.Met120Arg)
c.*1200T>G (n.*1200T>G)
c.278T>G
c.225T>G (p.Asp75Glu)
c.327T>G (p.Tyr109Ter)
9g.127661113G>ACA5248301STXBP1c.295G>A (p.Ala99Thr)
c.337G>A (p.Ala113Thr)
c.360G>A (p.Met120Ile)
c.*1201G>A (n.*1201G>A)
c.279G>A
c.226G>A (p.Ala76Thr)
c.328G>A (p.Ala110Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127661113G>CCA374932187STXBP1c.295G>C (p.Ala99Pro)
c.337G>C (p.Ala113Pro)
c.360G>C (p.Met120Ile)
c.*1201G>C (n.*1201G>C)
c.279G>C
c.226G>C (p.Ala76Pro)
c.328G>C (p.Ala110Pro)

Number of alleles fetched