Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.116616948C>ACA365391879RSPH4Ac.325C>A (p.Gln109Lys)
n.2976C>A
6g.116616948C=CA1657314570RSPH4Ac.325C= (p.Gln109=)
n.2976C=
6g.116616948C>GCA365391881RSPH4Ac.325C>G (p.Gln109Glu)
n.2976C>G
6g.116616948C>TCA339819RSPH4Ac.325C>T (p.Gln109Ter)
n.2976C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.116616949A>CCA365391900RSPH4Ac.326A>C (p.Gln109Pro)
n.2977A>C
6g.116616949A>GCA365391901RSPH4Ac.326A>G (p.Gln109Arg)
n.2977A>G
6g.116616949A>TCA365391902RSPH4Ac.326A>T (p.Gln109Leu)
n.2977A>T
6g.116616950G>ACA451903816RSPH4Ac.327G>A (p.Gln109=)
n.2978G>A
gnomAD v4
6g.116616950G>CCA365391904RSPH4Ac.327G>C (p.Gln109His)
n.2978G>C
6g.116616950G>TCA365391903RSPH4Ac.327G>T (p.Gln109His)
n.2978G>T
6g.116616951T>ACA365391909RSPH4Ac.328T>A (p.Ser110Thr)
n.2979T>A
6g.116616951T>CCA365391910RSPH4Ac.328T>C (p.Ser110Pro)
n.2979T>C
6g.116616951T>GCA365391911RSPH4Ac.328T>G (p.Ser110Ala)
n.2979T>G
6g.116616952C>ACA365391916RSPH4Ac.329C>A (p.Ser110Ter)
n.2980C>A
6g.116616952C>GCA365391917RSPH4Ac.329C>G (p.Ser110Trp)
n.2980C>G
6g.116616952C>TCA365391918RSPH4Ac.329C>T (p.Ser110Leu)
n.2980C>T
6g.116616953G>ACA451903820RSPH4Ac.330G>A (p.Ser110=)
n.2981G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.116616953G>CCA451903821RSPH4Ac.330G>C (p.Ser110=)
n.2981G>C
6g.116616953G=CA1657314575RSPH4Ac.330G= (p.Ser110=)
n.2981G=
6g.116616953G>TCA451903822RSPH4Ac.330G>T (p.Ser110=)
n.2981G>T
dbSNP
6g.116616954dupCA2578721811RSPH4Ac.331dup (p.Asp111GlyfsTer9)
n.2982dup
gnomAD v4
6g.116616954G>ACA365391920RSPH4Ac.331G>A (p.Asp111Asn)
n.2982G>A
6g.116616954G>CCA365391925RSPH4Ac.331G>C (p.Asp111His)
n.2982G>C
gnomAD v4
6g.116616954G>TCA365391937RSPH4Ac.331G>T (p.Asp111Tyr)
n.2982G>T
6g.116616955A=CA1657314578RSPH4Ac.332A= (p.Asp111=)
n.2983A=
6g.116616955A>CCA365391942RSPH4Ac.332A>C (p.Asp111Ala)
n.2983A>C
dbSNP gnomAD v2 gnomAD v4
6g.116616955A>GCA365391946RSPH4Ac.332A>G (p.Asp111Gly)
n.2983A>G
6g.116616955A>TCA365391947RSPH4Ac.332A>T (p.Asp111Val)
n.2983A>T
6g.116616956C>ACA365391948RSPH4Ac.333C>A (p.Asp111Glu)
n.2984C>A
6g.116616956C>GCA365391949RSPH4Ac.333C>G (p.Asp111Glu)
n.2984C>G
6g.116616956C>TCA451903826RSPH4Ac.333C>T (p.Asp111=)
n.2984C>T
6g.116616957A>CCA451903827RSPH4Ac.334A>C (p.Arg112=)
n.2985A>C
6g.116616957A>GCA365391967RSPH4Ac.334A>G (p.Arg112Gly)
n.2985A>G
6g.116616957A>TCA365391980RSPH4Ac.334A>T (p.Arg112Trp)
n.2985A>T
6g.116616958G>ACA365391988RSPH4Ac.335G>A (p.Arg112Lys)
n.2986G>A
6g.116616958G>CCA365391989RSPH4Ac.335G>C (p.Arg112Thr)
n.2986G>C
6g.116616958G=CA1657314580RSPH4Ac.335G= (p.Arg112=)
n.2986G=
6g.116616958G>TCA365391993RSPH4Ac.335G>T (p.Arg112Met)
n.2986G>T
dbSNP gnomAD v4
6g.116616958_116616960delinsTACCA2573140424RSPH4Ac.335_337delinsTAC (p.Arg112_Thr113delinsIlePro)
n.2986_2988delinsTAC
ClinVar dbSNP
6g.116616959G>ACA451903831RSPH4Ac.336G>A (p.Arg112=)
n.2987G>A
dbSNP gnomAD v4
6g.116616959G>CCA365391997RSPH4Ac.336G>C (p.Arg112Ser)
n.2987G>C
6g.116616959G=CA1657314584RSPH4Ac.336G= (p.Arg112=)
n.2987G=
6g.116616959G>TCA365392000RSPH4Ac.336G>T (p.Arg112Ser)
n.2987G>T
6g.116616960A=CA1657314586RSPH4Ac.337A= (p.Thr113=)
n.2988A=
6g.116616960A>CCA365392003RSPH4Ac.337A>C (p.Thr113Pro)
n.2988A>C
dbSNP gnomAD v4
6g.116616960A>GCA365392007RSPH4Ac.337A>G (p.Thr113Ala)
n.2988A>G
gnomAD v4
6g.116616960A>TCA365392014RSPH4Ac.337A>T (p.Thr113Ser)
n.2988A>T
6g.116616961C>ACA365392020RSPH4Ac.338C>A (p.Thr113Asn)
n.2989C>A
6g.116616961C>GCA365392025RSPH4Ac.338C>G (p.Thr113Ser)
n.2989C>G
6g.116616961C>TCA365392028RSPH4Ac.338C>T (p.Thr113Ile)
n.2989C>T

Number of alleles fetched