Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.109784284_109784290delCA2620825988TRPV4c.2458+26_2458+32del (n.2458+26_2458+32del)
c.*1545+26_*1545+32del (n.*1545+26_*1545+32del)
c.2356+26_2356+32del (n.2356+26_2356+32del)
c.2278+26_2278+32del (n.2278+26_2278+32del)
c.*841+26_*841+32del (n.*841+26_*841+32del)
c.2317+26_2317+32del (n.2317+26_2317+32del)
c.2137+26_2137+32del (n.2137+26_2137+32del)
c.2611+26_2611+32del (n.2611+26_2611+32del)
c.2470+26_2470+32del (n.2470+26_2470+32del)
c.2431+26_2431+32del (n.2431+26_2431+32del)
c.2290+26_2290+32del (n.2290+26_2290+32del)
gnomAD v4
12g.109784286G>ACA6779905TRPV4c.2458+30C>T (n.2458+30C>T)
c.*1545+30C>T (n.*1545+30C>T)
c.2356+30C>T (n.2356+30C>T)
c.2278+30C>T (n.2278+30C>T)
c.*841+30C>T (n.*841+30C>T)
c.2317+30C>T (n.2317+30C>T)
c.2137+30C>T (n.2137+30C>T)
c.2611+30C>T (n.2611+30C>T)
c.2470+30C>T (n.2470+30C>T)
c.2431+30C>T (n.2431+30C>T)
c.2290+30C>T (n.2290+30C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784286G=CA2062557832TRPV4c.2458+30C= (n.2458+30C=)
c.*1545+30C= (n.*1545+30C=)
c.2356+30C= (n.2356+30C=)
c.2278+30C= (n.2278+30C=)
c.*841+30C= (n.*841+30C=)
c.2317+30C= (n.2317+30C=)
c.2137+30C= (n.2137+30C=)
c.2611+30C= (n.2611+30C=)
c.2470+30C= (n.2470+30C=)
c.2431+30C= (n.2431+30C=)
c.2290+30C= (n.2290+30C=)
12g.109784287C>ACA6779906TRPV4c.2458+29G>T (n.2458+29G>T)
c.*1545+29G>T (n.*1545+29G>T)
c.2356+29G>T (n.2356+29G>T)
c.2278+29G>T (n.2278+29G>T)
c.*841+29G>T (n.*841+29G>T)
c.2317+29G>T (n.2317+29G>T)
c.2137+29G>T (n.2137+29G>T)
c.2611+29G>T (n.2611+29G>T)
c.2470+29G>T (n.2470+29G>T)
c.2431+29G>T (n.2431+29G>T)
c.2290+29G>T (n.2290+29G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.109784287C=CA2062557834TRPV4c.2458+29G= (n.2458+29G=)
c.*1545+29G= (n.*1545+29G=)
c.2356+29G= (n.2356+29G=)
c.2278+29G= (n.2278+29G=)
c.*841+29G= (n.*841+29G=)
c.2317+29G= (n.2317+29G=)
c.2137+29G= (n.2137+29G=)
c.2611+29G= (n.2611+29G=)
c.2470+29G= (n.2470+29G=)
c.2431+29G= (n.2431+29G=)
c.2290+29G= (n.2290+29G=)
12g.109784287C>TCA683465815TRPV4c.2458+29G>A (n.2458+29G>A)
c.*1545+29G>A (n.*1545+29G>A)
c.2356+29G>A (n.2356+29G>A)
c.2278+29G>A (n.2278+29G>A)
c.*841+29G>A (n.*841+29G>A)
c.2317+29G>A (n.2317+29G>A)
c.2137+29G>A (n.2137+29G>A)
c.2611+29G>A (n.2611+29G>A)
c.2470+29G>A (n.2470+29G>A)
c.2431+29G>A (n.2431+29G>A)
c.2290+29G>A (n.2290+29G>A)
dbSNP
12g.109784288T>GCA2620825995TRPV4c.2458+28A>C (n.2458+28A>C)
c.*1545+28A>C (n.*1545+28A>C)
c.2356+28A>C (n.2356+28A>C)
c.2278+28A>C (n.2278+28A>C)
c.*841+28A>C (n.*841+28A>C)
c.2317+28A>C (n.2317+28A>C)
c.2137+28A>C (n.2137+28A>C)
c.2611+28A>C (n.2611+28A>C)
c.2470+28A>C (n.2470+28A>C)
c.2431+28A>C (n.2431+28A>C)
c.2290+28A>C (n.2290+28A>C)
gnomAD v4
12g.109784289C>ACA2520112751TRPV4c.2458+27G>T (n.2458+27G>T)
c.*1545+27G>T (n.*1545+27G>T)
c.2356+27G>T (n.2356+27G>T)
c.2278+27G>T (n.2278+27G>T)
c.*841+27G>T (n.*841+27G>T)
c.2317+27G>T (n.2317+27G>T)
c.2137+27G>T (n.2137+27G>T)
c.2611+27G>T (n.2611+27G>T)
c.2470+27G>T (n.2470+27G>T)
c.2431+27G>T (n.2431+27G>T)
c.2290+27G>T (n.2290+27G>T)
12g.109784289C=CA2062557835TRPV4c.2458+27G= (n.2458+27G=)
c.*1545+27G= (n.*1545+27G=)
c.2356+27G= (n.2356+27G=)
c.2278+27G= (n.2278+27G=)
c.*841+27G= (n.*841+27G=)
c.2317+27G= (n.2317+27G=)
c.2137+27G= (n.2137+27G=)
c.2611+27G= (n.2611+27G=)
c.2470+27G= (n.2470+27G=)
c.2431+27G= (n.2431+27G=)
c.2290+27G= (n.2290+27G=)
12g.109784289C>GCA6779907TRPV4c.2458+27G>C (n.2458+27G>C)
c.*1545+27G>C (n.*1545+27G>C)
c.2356+27G>C (n.2356+27G>C)
c.2278+27G>C (n.2278+27G>C)
c.*841+27G>C (n.*841+27G>C)
c.2317+27G>C (n.2317+27G>C)
c.2137+27G>C (n.2137+27G>C)
c.2611+27G>C (n.2611+27G>C)
c.2470+27G>C (n.2470+27G>C)
c.2431+27G>C (n.2431+27G>C)
c.2290+27G>C (n.2290+27G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.109784290C>TCA2620825998TRPV4c.2458+26G>A (n.2458+26G>A)
c.*1545+26G>A (n.*1545+26G>A)
c.2356+26G>A (n.2356+26G>A)
c.2278+26G>A (n.2278+26G>A)
c.*841+26G>A (n.*841+26G>A)
c.2317+26G>A (n.2317+26G>A)
c.2137+26G>A (n.2137+26G>A)
c.2611+26G>A (n.2611+26G>A)
c.2470+26G>A (n.2470+26G>A)
c.2431+26G>A (n.2431+26G>A)
c.2290+26G>A (n.2290+26G>A)
gnomAD v4
12g.109784292C=CA2062557836TRPV4c.2458+24G= (n.2458+24G=)
c.*1545+24G= (n.*1545+24G=)
c.2356+24G= (n.2356+24G=)
c.2278+24G= (n.2278+24G=)
c.*841+24G= (n.*841+24G=)
c.2317+24G= (n.2317+24G=)
c.2137+24G= (n.2137+24G=)
c.2611+24G= (n.2611+24G=)
c.2470+24G= (n.2470+24G=)
c.2431+24G= (n.2431+24G=)
c.2290+24G= (n.2290+24G=)
12g.109784292C>TCA2062557837TRPV4c.2458+24G>A (n.2458+24G>A)
c.*1545+24G>A (n.*1545+24G>A)
c.2356+24G>A (n.2356+24G>A)
c.2278+24G>A (n.2278+24G>A)
c.*841+24G>A (n.*841+24G>A)
c.2317+24G>A (n.2317+24G>A)
c.2137+24G>A (n.2137+24G>A)
c.2611+24G>A (n.2611+24G>A)
c.2470+24G>A (n.2470+24G>A)
c.2431+24G>A (n.2431+24G>A)
c.2290+24G>A (n.2290+24G>A)
dbSNP
12g.109784294C=CA2062557839TRPV4c.2458+22G= (n.2458+22G=)
c.*1545+22G= (n.*1545+22G=)
c.2356+22G= (n.2356+22G=)
c.2278+22G= (n.2278+22G=)
c.*841+22G= (n.*841+22G=)
c.2317+22G= (n.2317+22G=)
c.2137+22G= (n.2137+22G=)
c.2611+22G= (n.2611+22G=)
c.2470+22G= (n.2470+22G=)
c.2431+22G= (n.2431+22G=)
c.2290+22G= (n.2290+22G=)
12g.109784294C>TCA6779908TRPV4c.2458+22G>A (n.2458+22G>A)
c.*1545+22G>A (n.*1545+22G>A)
c.2356+22G>A (n.2356+22G>A)
c.2278+22G>A (n.2278+22G>A)
c.*841+22G>A (n.*841+22G>A)
c.2317+22G>A (n.2317+22G>A)
c.2137+22G>A (n.2137+22G>A)
c.2611+22G>A (n.2611+22G>A)
c.2470+22G>A (n.2470+22G>A)
c.2431+22G>A (n.2431+22G>A)
c.2290+22G>A (n.2290+22G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.109784295C=CA2062557840TRPV4c.2458+21G= (n.2458+21G=)
c.*1545+21G= (n.*1545+21G=)
c.2356+21G= (n.2356+21G=)
c.2278+21G= (n.2278+21G=)
c.*841+21G= (n.*841+21G=)
c.2317+21G= (n.2317+21G=)
c.2137+21G= (n.2137+21G=)
c.2611+21G= (n.2611+21G=)
c.2470+21G= (n.2470+21G=)
c.2431+21G= (n.2431+21G=)
c.2290+21G= (n.2290+21G=)
12g.109784295C>GCA243494583TRPV4c.2458+21G>C (n.2458+21G>C)
c.*1545+21G>C (n.*1545+21G>C)
c.2356+21G>C (n.2356+21G>C)
c.2278+21G>C (n.2278+21G>C)
c.*841+21G>C (n.*841+21G>C)
c.2317+21G>C (n.2317+21G>C)
c.2137+21G>C (n.2137+21G>C)
c.2611+21G>C (n.2611+21G>C)
c.2470+21G>C (n.2470+21G>C)
c.2431+21G>C (n.2431+21G>C)
c.2290+21G>C (n.2290+21G>C)
dbSNP gnomAD v3 gnomAD v4
12g.109784295C>TCA6779909TRPV4c.2458+21G>A (n.2458+21G>A)
c.*1545+21G>A (n.*1545+21G>A)
c.2356+21G>A (n.2356+21G>A)
c.2278+21G>A (n.2278+21G>A)
c.*841+21G>A (n.*841+21G>A)
c.2317+21G>A (n.2317+21G>A)
c.2137+21G>A (n.2137+21G>A)
c.2611+21G>A (n.2611+21G>A)
c.2470+21G>A (n.2470+21G>A)
c.2431+21G>A (n.2431+21G>A)
c.2290+21G>A (n.2290+21G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784296G>ACA6779910TRPV4c.2458+20C>T (n.2458+20C>T)
c.*1545+20C>T (n.*1545+20C>T)
c.2356+20C>T (n.2356+20C>T)
c.2278+20C>T (n.2278+20C>T)
c.*841+20C>T (n.*841+20C>T)
c.2317+20C>T (n.2317+20C>T)
c.2137+20C>T (n.2137+20C>T)
c.2611+20C>T (n.2611+20C>T)
c.2470+20C>T (n.2470+20C>T)
c.2431+20C>T (n.2431+20C>T)
c.2290+20C>T (n.2290+20C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784296G=CA2062557842TRPV4c.2458+20C= (n.2458+20C=)
c.*1545+20C= (n.*1545+20C=)
c.2356+20C= (n.2356+20C=)
c.2278+20C= (n.2278+20C=)
c.*841+20C= (n.*841+20C=)
c.2317+20C= (n.2317+20C=)
c.2137+20C= (n.2137+20C=)
c.2611+20C= (n.2611+20C=)
c.2470+20C= (n.2470+20C=)
c.2431+20C= (n.2431+20C=)
c.2290+20C= (n.2290+20C=)
12g.109784297C=CA2062557844TRPV4c.2458+19G= (n.2458+19G=)
c.*1545+19G= (n.*1545+19G=)
c.2356+19G= (n.2356+19G=)
c.2278+19G= (n.2278+19G=)
c.*841+19G= (n.*841+19G=)
c.2317+19G= (n.2317+19G=)
c.2137+19G= (n.2137+19G=)
c.2611+19G= (n.2611+19G=)
c.2470+19G= (n.2470+19G=)
c.2431+19G= (n.2431+19G=)
c.2290+19G= (n.2290+19G=)
12g.109784297C>GCA607297387TRPV4c.2458+19G>C (n.2458+19G>C)
c.*1545+19G>C (n.*1545+19G>C)
c.2356+19G>C (n.2356+19G>C)
c.2278+19G>C (n.2278+19G>C)
c.*841+19G>C (n.*841+19G>C)
c.2317+19G>C (n.2317+19G>C)
c.2137+19G>C (n.2137+19G>C)
c.2611+19G>C (n.2611+19G>C)
c.2470+19G>C (n.2470+19G>C)
c.2431+19G>C (n.2431+19G>C)
c.2290+19G>C (n.2290+19G>C)
dbSNP gnomAD v2 gnomAD v4
12g.109784297C>TCA6779911TRPV4c.2458+19G>A (n.2458+19G>A)
c.*1545+19G>A (n.*1545+19G>A)
c.2356+19G>A (n.2356+19G>A)
c.2278+19G>A (n.2278+19G>A)
c.*841+19G>A (n.*841+19G>A)
c.2317+19G>A (n.2317+19G>A)
c.2137+19G>A (n.2137+19G>A)
c.2611+19G>A (n.2611+19G>A)
c.2470+19G>A (n.2470+19G>A)
c.2431+19G>A (n.2431+19G>A)
c.2290+19G>A (n.2290+19G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.109784298A=CA2062557845TRPV4c.2458+18T= (n.2458+18T=)
c.*1545+18T= (n.*1545+18T=)
c.2356+18T= (n.2356+18T=)
c.2278+18T= (n.2278+18T=)
c.*841+18T= (n.*841+18T=)
c.2317+18T= (n.2317+18T=)
c.2137+18T= (n.2137+18T=)
c.2611+18T= (n.2611+18T=)
c.2470+18T= (n.2470+18T=)
c.2431+18T= (n.2431+18T=)
c.2290+18T= (n.2290+18T=)
12g.109784298A>CCA6779912TRPV4c.2458+18T>G (n.2458+18T>G)
c.*1545+18T>G (n.*1545+18T>G)
c.2356+18T>G (n.2356+18T>G)
c.2278+18T>G (n.2278+18T>G)
c.*841+18T>G (n.*841+18T>G)
c.2317+18T>G (n.2317+18T>G)
c.2137+18T>G (n.2137+18T>G)
c.2611+18T>G (n.2611+18T>G)
c.2470+18T>G (n.2470+18T>G)
c.2431+18T>G (n.2431+18T>G)
c.2290+18T>G (n.2290+18T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.109784299C>ACA6779913TRPV4c.2458+17G>T (n.2458+17G>T)
c.*1545+17G>T (n.*1545+17G>T)
c.2356+17G>T (n.2356+17G>T)
c.2278+17G>T (n.2278+17G>T)
c.*841+17G>T (n.*841+17G>T)
c.2317+17G>T (n.2317+17G>T)
c.2137+17G>T (n.2137+17G>T)
c.2611+17G>T (n.2611+17G>T)
c.2470+17G>T (n.2470+17G>T)
c.2431+17G>T (n.2431+17G>T)
c.2290+17G>T (n.2290+17G>T)
dbSNP ExAC gnomAD v4
12g.109784299C=CA2062557847TRPV4c.2458+17G= (n.2458+17G=)
c.*1545+17G= (n.*1545+17G=)
c.2356+17G= (n.2356+17G=)
c.2278+17G= (n.2278+17G=)
c.*841+17G= (n.*841+17G=)
c.2317+17G= (n.2317+17G=)
c.2137+17G= (n.2137+17G=)
c.2611+17G= (n.2611+17G=)
c.2470+17G= (n.2470+17G=)
c.2431+17G= (n.2431+17G=)
c.2290+17G= (n.2290+17G=)
12g.109784299C>TCA6779914TRPV4c.2458+17G>A (n.2458+17G>A)
c.*1545+17G>A (n.*1545+17G>A)
c.2356+17G>A (n.2356+17G>A)
c.2278+17G>A (n.2278+17G>A)
c.*841+17G>A (n.*841+17G>A)
c.2317+17G>A (n.2317+17G>A)
c.2137+17G>A (n.2137+17G>A)
c.2611+17G>A (n.2611+17G>A)
c.2470+17G>A (n.2470+17G>A)
c.2431+17G>A (n.2431+17G>A)
c.2290+17G>A (n.2290+17G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784301C>ACA16606453TRPV4c.2458+15G>T (n.2458+15G>T)
c.*1545+15G>T (n.*1545+15G>T)
c.2356+15G>T (n.2356+15G>T)
c.2278+15G>T (n.2278+15G>T)
c.*841+15G>T (n.*841+15G>T)
c.2317+15G>T (n.2317+15G>T)
c.2137+15G>T (n.2137+15G>T)
c.2611+15G>T (n.2611+15G>T)
c.2470+15G>T (n.2470+15G>T)
c.2431+15G>T (n.2431+15G>T)
c.2290+15G>T (n.2290+15G>T)
ClinVar dbSNP gnomAD v4
12g.109784301C=CA2062557850TRPV4c.2458+15G= (n.2458+15G=)
c.*1545+15G= (n.*1545+15G=)
c.2356+15G= (n.2356+15G=)
c.2278+15G= (n.2278+15G=)
c.*841+15G= (n.*841+15G=)
c.2317+15G= (n.2317+15G=)
c.2137+15G= (n.2137+15G=)
c.2611+15G= (n.2611+15G=)
c.2470+15G= (n.2470+15G=)
c.2431+15G= (n.2431+15G=)
c.2290+15G= (n.2290+15G=)
12g.109784301C>TCA6779915TRPV4c.2458+15G>A (n.2458+15G>A)
c.*1545+15G>A (n.*1545+15G>A)
c.2356+15G>A (n.2356+15G>A)
c.2278+15G>A (n.2278+15G>A)
c.*841+15G>A (n.*841+15G>A)
c.2317+15G>A (n.2317+15G>A)
c.2137+15G>A (n.2137+15G>A)
c.2611+15G>A (n.2611+15G>A)
c.2470+15G>A (n.2470+15G>A)
c.2431+15G>A (n.2431+15G>A)
c.2290+15G>A (n.2290+15G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784302G>ACA6779916TRPV4c.2458+14C>T (n.2458+14C>T)
c.*1545+14C>T (n.*1545+14C>T)
c.2356+14C>T (n.2356+14C>T)
c.2278+14C>T (n.2278+14C>T)
c.*841+14C>T (n.*841+14C>T)
c.2317+14C>T (n.2317+14C>T)
c.2137+14C>T (n.2137+14C>T)
c.2611+14C>T (n.2611+14C>T)
c.2470+14C>T (n.2470+14C>T)
c.2431+14C>T (n.2431+14C>T)
c.2290+14C>T (n.2290+14C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784302G=CA2062557852TRPV4c.2458+14C= (n.2458+14C=)
c.*1545+14C= (n.*1545+14C=)
c.2356+14C= (n.2356+14C=)
c.2278+14C= (n.2278+14C=)
c.*841+14C= (n.*841+14C=)
c.2317+14C= (n.2317+14C=)
c.2137+14C= (n.2137+14C=)
c.2611+14C= (n.2611+14C=)
c.2470+14C= (n.2470+14C=)
c.2431+14C= (n.2431+14C=)
c.2290+14C= (n.2290+14C=)
12g.109784303C>GCA2620826041TRPV4c.2458+13G>C (n.2458+13G>C)
c.*1545+13G>C (n.*1545+13G>C)
c.2356+13G>C (n.2356+13G>C)
c.2278+13G>C (n.2278+13G>C)
c.*841+13G>C (n.*841+13G>C)
c.2317+13G>C (n.2317+13G>C)
c.2137+13G>C (n.2137+13G>C)
c.2611+13G>C (n.2611+13G>C)
c.2470+13G>C (n.2470+13G>C)
c.2431+13G>C (n.2431+13G>C)
c.2290+13G>C (n.2290+13G>C)
gnomAD v4
12g.109784303C>TCA2620826043TRPV4c.2458+13G>A (n.2458+13G>A)
c.*1545+13G>A (n.*1545+13G>A)
c.2356+13G>A (n.2356+13G>A)
c.2278+13G>A (n.2278+13G>A)
c.*841+13G>A (n.*841+13G>A)
c.2317+13G>A (n.2317+13G>A)
c.2137+13G>A (n.2137+13G>A)
c.2611+13G>A (n.2611+13G>A)
c.2470+13G>A (n.2470+13G>A)
c.2431+13G>A (n.2431+13G>A)
c.2290+13G>A (n.2290+13G>A)
gnomAD v4
12g.109784308_109784319dupCA2575286181TRPV4c.2458+2_2458+13dup
c.*1545+2_*1545+13dup
c.2356+2_2356+13dup
c.2278+2_2278+13dup
c.*841+2_*841+13dup
c.2317+2_2317+13dup
c.2137+2_2137+13dup
c.2611+2_2611+13dup
c.2470+2_2470+13dup
c.2431+2_2431+13dup
c.2290+2_2290+13dup
12g.109784305C=CA2062557853TRPV4c.2458+11G= (n.2458+11G=)
c.*1545+11G= (n.*1545+11G=)
c.2356+11G= (n.2356+11G=)
c.2278+11G= (n.2278+11G=)
c.*841+11G= (n.*841+11G=)
c.2317+11G= (n.2317+11G=)
c.2137+11G= (n.2137+11G=)
c.2611+11G= (n.2611+11G=)
c.2470+11G= (n.2470+11G=)
c.2431+11G= (n.2431+11G=)
c.2290+11G= (n.2290+11G=)
12g.109784305C>TCA6779917TRPV4c.2458+11G>A (n.2458+11G>A)
c.*1545+11G>A (n.*1545+11G>A)
c.2356+11G>A (n.2356+11G>A)
c.2278+11G>A (n.2278+11G>A)
c.*841+11G>A (n.*841+11G>A)
c.2317+11G>A (n.2317+11G>A)
c.2137+11G>A (n.2137+11G>A)
c.2611+11G>A (n.2611+11G>A)
c.2470+11G>A (n.2470+11G>A)
c.2431+11G>A (n.2431+11G>A)
c.2290+11G>A (n.2290+11G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.109784306C>ACA607297427TRPV4c.2458+10G>T (n.2458+10G>T)
c.*1545+10G>T (n.*1545+10G>T)
c.2356+10G>T (n.2356+10G>T)
c.2278+10G>T (n.2278+10G>T)
c.*841+10G>T (n.*841+10G>T)
c.2317+10G>T (n.2317+10G>T)
c.2137+10G>T (n.2137+10G>T)
c.2611+10G>T (n.2611+10G>T)
c.2470+10G>T (n.2470+10G>T)
c.2431+10G>T (n.2431+10G>T)
c.2290+10G>T (n.2290+10G>T)
dbSNP gnomAD v2 gnomAD v4
12g.109784306C=CA2062557855TRPV4c.2458+10G= (n.2458+10G=)
c.*1545+10G= (n.*1545+10G=)
c.2356+10G= (n.2356+10G=)
c.2278+10G= (n.2278+10G=)
c.*841+10G= (n.*841+10G=)
c.2317+10G= (n.2317+10G=)
c.2137+10G= (n.2137+10G=)
c.2611+10G= (n.2611+10G=)
c.2470+10G= (n.2470+10G=)
c.2431+10G= (n.2431+10G=)
c.2290+10G= (n.2290+10G=)
12g.109784306C>GCA2620826053TRPV4c.2458+10G>C (n.2458+10G>C)
c.*1545+10G>C (n.*1545+10G>C)
c.2356+10G>C (n.2356+10G>C)
c.2278+10G>C (n.2278+10G>C)
c.*841+10G>C (n.*841+10G>C)
c.2317+10G>C (n.2317+10G>C)
c.2137+10G>C (n.2137+10G>C)
c.2611+10G>C (n.2611+10G>C)
c.2470+10G>C (n.2470+10G>C)
c.2431+10G>C (n.2431+10G>C)
c.2290+10G>C (n.2290+10G>C)
gnomAD v4
12g.109784309C=CA2062557856TRPV4c.2458+7G= (n.2458+7G=)
c.*1545+7G= (n.*1545+7G=)
c.2356+7G= (n.2356+7G=)
c.2278+7G= (n.2278+7G=)
c.*841+7G= (n.*841+7G=)
c.2317+7G= (n.2317+7G=)
c.2137+7G= (n.2137+7G=)
c.2611+7G= (n.2611+7G=)
c.2470+7G= (n.2470+7G=)
c.2431+7G= (n.2431+7G=)
c.2290+7G= (n.2290+7G=)
12g.109784309C>TCA2062557857TRPV4c.2458+7G>A (n.2458+7G>A)
c.*1545+7G>A (n.*1545+7G>A)
c.2356+7G>A (n.2356+7G>A)
c.2278+7G>A (n.2278+7G>A)
c.*841+7G>A (n.*841+7G>A)
c.2317+7G>A (n.2317+7G>A)
c.2137+7G>A (n.2137+7G>A)
c.2611+7G>A (n.2611+7G>A)
c.2470+7G>A (n.2470+7G>A)
c.2431+7G>A (n.2431+7G>A)
c.2290+7G>A (n.2290+7G>A)
ClinVar dbSNP gnomAD v4
12g.109784310A=CA2062557858TRPV4c.2458+6T= (n.2458+6T=)
c.*1545+6T= (n.*1545+6T=)
c.2356+6T= (n.2356+6T=)
c.2278+6T= (n.2278+6T=)
c.*841+6T= (n.*841+6T=)
c.2317+6T= (n.2317+6T=)
c.2137+6T= (n.2137+6T=)
c.2611+6T= (n.2611+6T=)
c.2470+6T= (n.2470+6T=)
c.2431+6T= (n.2431+6T=)
c.2290+6T= (n.2290+6T=)
12g.109784310A>TCA2062557859TRPV4c.2458+6T>A (n.2458+6T>A)
c.*1545+6T>A (n.*1545+6T>A)
c.2356+6T>A (n.2356+6T>A)
c.2278+6T>A (n.2278+6T>A)
c.*841+6T>A (n.*841+6T>A)
c.2317+6T>A (n.2317+6T>A)
c.2137+6T>A (n.2137+6T>A)
c.2611+6T>A (n.2611+6T>A)
c.2470+6T>A (n.2470+6T>A)
c.2431+6T>A (n.2431+6T>A)
c.2290+6T>A (n.2290+6T>A)
dbSNP
12g.109784311C>TCA2620826059TRPV4c.2458+5G>A (n.2458+5G>A)
c.*1545+5G>A (n.*1545+5G>A)
c.2356+5G>A (n.2356+5G>A)
c.2278+5G>A (n.2278+5G>A)
c.*841+5G>A (n.*841+5G>A)
c.2317+5G>A (n.2317+5G>A)
c.2137+5G>A (n.2137+5G>A)
c.2611+5G>A (n.2611+5G>A)
c.2470+5G>A (n.2470+5G>A)
c.2431+5G>A (n.2431+5G>A)
c.2290+5G>A (n.2290+5G>A)
gnomAD v4
12g.109784312T>GCA2499221428TRPV4c.2458+4A>C (n.2458+4A>C)
c.*1545+4A>C (n.*1545+4A>C)
c.2356+4A>C (n.2356+4A>C)
c.2278+4A>C (n.2278+4A>C)
c.*841+4A>C (n.*841+4A>C)
c.2317+4A>C (n.2317+4A>C)
c.2137+4A>C (n.2137+4A>C)
c.2611+4A>C (n.2611+4A>C)
c.2470+4A>C (n.2470+4A>C)
c.2431+4A>C (n.2431+4A>C)
c.2290+4A>C (n.2290+4A>C)
ClinVar dbSNP gnomAD v4
12g.109784313C=CA2062557862TRPV4c.2458+3G= (n.2458+3G=)
c.*1545+3G= (n.*1545+3G=)
c.2356+3G= (n.2356+3G=)
c.2278+3G= (n.2278+3G=)
c.*841+3G= (n.*841+3G=)
c.2317+3G= (n.2317+3G=)
c.2137+3G= (n.2137+3G=)
c.2611+3G= (n.2611+3G=)
c.2470+3G= (n.2470+3G=)
c.2431+3G= (n.2431+3G=)
c.2290+3G= (n.2290+3G=)
12g.109784313C>GCA6779918TRPV4c.2458+3G>C (n.2458+3G>C)
c.*1545+3G>C (n.*1545+3G>C)
c.2356+3G>C (n.2356+3G>C)
c.2278+3G>C (n.2278+3G>C)
c.*841+3G>C (n.*841+3G>C)
c.2317+3G>C (n.2317+3G>C)
c.2137+3G>C (n.2137+3G>C)
c.2611+3G>C (n.2611+3G>C)
c.2470+3G>C (n.2470+3G>C)
c.2431+3G>C (n.2431+3G>C)
c.2290+3G>C (n.2290+3G>C)
dbSNP ExAC gnomAD v2
12g.109784313C>TCA2062557860TRPV4c.2458+3G>A (n.2458+3G>A)
c.*1545+3G>A (n.*1545+3G>A)
c.2356+3G>A (n.2356+3G>A)
c.2278+3G>A (n.2278+3G>A)
c.*841+3G>A (n.*841+3G>A)
c.2317+3G>A (n.2317+3G>A)
c.2137+3G>A (n.2137+3G>A)
c.2611+3G>A (n.2611+3G>A)
c.2470+3G>A (n.2470+3G>A)
c.2431+3G>A (n.2431+3G>A)
c.2290+3G>A (n.2290+3G>A)
dbSNP
12g.109784314A>CCA386648676TRPV4c.2458+2T>G (n.2458+2T>G)
c.*1545+2T>G (n.*1545+2T>G)
c.2356+2T>G (n.2356+2T>G)
c.2278+2T>G (n.2278+2T>G)
c.*841+2T>G (n.*841+2T>G)
c.2317+2T>G (n.2317+2T>G)
c.2137+2T>G (n.2137+2T>G)
c.2611+2T>G (n.2611+2T>G)
c.2470+2T>G (n.2470+2T>G)
c.2431+2T>G (n.2431+2T>G)
c.2290+2T>G (n.2290+2T>G)
12g.109784314A>GCA386648678TRPV4c.2458+2T>C (n.2458+2T>C)
c.*1545+2T>C (n.*1545+2T>C)
c.2356+2T>C (n.2356+2T>C)
c.2278+2T>C (n.2278+2T>C)
c.*841+2T>C (n.*841+2T>C)
c.2317+2T>C (n.2317+2T>C)
c.2137+2T>C (n.2137+2T>C)
c.2611+2T>C (n.2611+2T>C)
c.2470+2T>C (n.2470+2T>C)
c.2431+2T>C (n.2431+2T>C)
c.2290+2T>C (n.2290+2T>C)
12g.109784314A>TCA386648677TRPV4c.2458+2T>A (n.2458+2T>A)
c.*1545+2T>A (n.*1545+2T>A)
c.2356+2T>A (n.2356+2T>A)
c.2278+2T>A (n.2278+2T>A)
c.*841+2T>A (n.*841+2T>A)
c.2317+2T>A (n.2317+2T>A)
c.2137+2T>A (n.2137+2T>A)
c.2611+2T>A (n.2611+2T>A)
c.2470+2T>A (n.2470+2T>A)
c.2431+2T>A (n.2431+2T>A)
c.2290+2T>A (n.2290+2T>A)
12g.109784314_109784374delinsACCCCTGCGGAGGCGGCCCACGGTATGCGAGAAGCCATAATACTGGTAGGTCTCATTCTTGCA2062557864TRPV4c.2400_2458+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT
c.*1487_*1545+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT
c.2298_2356+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT
c.2220_2278+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT
c.*783_*841+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT
c.2259_2317+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT
c.2079_2137+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT
c.2553_2611+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT
c.2412_2470+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT
c.2373_2431+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT
c.2232_2290+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT
12g.109784315C>ACA386648679TRPV4c.2458+1G>T (n.2458+1G>T)
c.*1545+1G>T (n.*1545+1G>T)
c.2356+1G>T (n.2356+1G>T)
c.2278+1G>T (n.2278+1G>T)
c.*841+1G>T (n.*841+1G>T)
c.2317+1G>T (n.2317+1G>T)
c.2137+1G>T (n.2137+1G>T)
c.2611+1G>T (n.2611+1G>T)
c.2470+1G>T (n.2470+1G>T)
c.2431+1G>T (n.2431+1G>T)
c.2290+1G>T (n.2290+1G>T)
dbSNP gnomAD v2 gnomAD v4
12g.109784315C=CA2062557866TRPV4c.2458+1G= (n.2458+1G=)
c.*1545+1G= (n.*1545+1G=)
c.2356+1G= (n.2356+1G=)
c.2278+1G= (n.2278+1G=)
c.*841+1G= (n.*841+1G=)
c.2317+1G= (n.2317+1G=)
c.2137+1G= (n.2137+1G=)
c.2611+1G= (n.2611+1G=)
c.2470+1G= (n.2470+1G=)
c.2431+1G= (n.2431+1G=)
c.2290+1G= (n.2290+1G=)
12g.109784315C>GCA386648680TRPV4c.2458+1G>C (n.2458+1G>C)
c.*1545+1G>C (n.*1545+1G>C)
c.2356+1G>C (n.2356+1G>C)
c.2278+1G>C (n.2278+1G>C)
c.*841+1G>C (n.*841+1G>C)
c.2317+1G>C (n.2317+1G>C)
c.2137+1G>C (n.2137+1G>C)
c.2611+1G>C (n.2611+1G>C)
c.2470+1G>C (n.2470+1G>C)
c.2431+1G>C (n.2431+1G>C)
c.2290+1G>C (n.2290+1G>C)
12g.109784315C>TCA386648681TRPV4c.2458+1G>A (n.2458+1G>A)
c.*1545+1G>A (n.*1545+1G>A)
c.2356+1G>A (n.2356+1G>A)
c.2278+1G>A (n.2278+1G>A)
c.*841+1G>A (n.*841+1G>A)
c.2317+1G>A (n.2317+1G>A)
c.2137+1G>A (n.2137+1G>A)
c.2611+1G>A (n.2611+1G>A)
c.2470+1G>A (n.2470+1G>A)
c.2431+1G>A (n.2431+1G>A)
c.2290+1G>A (n.2290+1G>A)
12g.109784318_109784377delCA1139662862TRPV4c.2400_2458+1del
c.*1487_*1545+1del
c.2298_2356+1del
c.2220_2278+1del
c.*783_*841+1del
c.2259_2317+1del
c.2079_2137+1del
c.2553_2611+1del
c.2412_2470+1del
c.2373_2431+1del
c.2232_2290+1del
ClinVar dbSNP
12g.109784316C>ACA6779919TRPV4c.2458G>T (p.Asp820Tyr)
c.*1545G>T (n.*1545G>T)
c.2356G>T (p.Asp786Tyr)
c.2278G>T (p.Asp760Tyr)
c.*841G>T (n.*841G>T)
c.2317G>T (p.Asp773Tyr)
c.2137G>T (p.Asp713Tyr)
c.2611G>T (p.Asp871Tyr)
c.2470G>T (p.Asp824Tyr)
c.2431G>T (p.Asp811Tyr)
c.2290G>T (p.Asp764Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784316C=CA2062557870TRPV4c.2458G= (p.Asp820=)
c.*1545G= (n.*1545G=)
c.2356G= (p.Asp786=)
c.2278G= (p.Asp760=)
c.*841G= (n.*841G=)
c.2317G= (p.Asp773=)
c.2137G= (p.Asp713=)
c.2611G= (p.Asp871=)
c.2470G= (p.Asp824=)
c.2431G= (p.Asp811=)
c.2290G= (p.Asp764=)
12g.109784316C>GCA386648682TRPV4c.2458G>C (p.Asp820His)
c.*1545G>C (n.*1545G>C)
c.2356G>C (p.Asp786His)
c.2278G>C (p.Asp760His)
c.*841G>C (n.*841G>C)
c.2317G>C (p.Asp773His)
c.2137G>C (p.Asp713His)
c.2611G>C (p.Asp871His)
c.2470G>C (p.Asp824His)
c.2431G>C (p.Asp811His)
c.2290G>C (p.Asp764His)
12g.109784316C>TCA386648683TRPV4c.2458G>A (p.Asp820Asn)
c.*1545G>A (n.*1545G>A)
c.2356G>A (p.Asp786Asn)
c.2278G>A (p.Asp760Asn)
c.*841G>A (n.*841G>A)
c.2317G>A (p.Asp773Asn)
c.2137G>A (p.Asp713Asn)
c.2611G>A (p.Asp871Asn)
c.2470G>A (p.Asp824Asn)
c.2431G>A (p.Asp811Asn)
c.2290G>A (p.Asp764Asn)
12g.109784317C>ACA386648684TRPV4c.2457G>T (p.Arg819Ser)
c.*1544G>T (n.*1544G>T)
c.2355G>T (p.Arg785Ser)
c.2277G>T (p.Arg759Ser)
c.*840G>T (n.*840G>T)
c.2316G>T (p.Arg772Ser)
c.2136G>T (p.Arg712Ser)
c.2610G>T (p.Arg870Ser)
c.2469G>T (p.Arg823Ser)
c.2430G>T (p.Arg810Ser)
c.2289G>T (p.Arg763Ser)
12g.109784317C>GCA386648685TRPV4c.2457G>C (p.Arg819Ser)
c.*1544G>C (n.*1544G>C)
c.2355G>C (p.Arg785Ser)
c.2277G>C (p.Arg759Ser)
c.*840G>C (n.*840G>C)
c.2316G>C (p.Arg772Ser)
c.2136G>C (p.Arg712Ser)
c.2610G>C (p.Arg870Ser)
c.2469G>C (p.Arg823Ser)
c.2430G>C (p.Arg810Ser)
c.2289G>C (p.Arg763Ser)
12g.109784317C>TCA481723981TRPV4c.2457G>A (p.Arg819=)
c.*1544G>A (n.*1544G>A)
c.2355G>A (p.Arg785=)
c.2277G>A (p.Arg759=)
c.*840G>A (n.*840G>A)
c.2316G>A (p.Arg772=)
c.2136G>A (p.Arg712=)
c.2610G>A (p.Arg870=)
c.2469G>A (p.Arg823=)
c.2430G>A (p.Arg810=)
c.2289G>A (p.Arg763=)
ClinVar
12g.109784318C>ACA386648686TRPV4c.2456G>T (p.Arg819Met)
c.*1543G>T (n.*1543G>T)
c.2354G>T (p.Arg785Met)
c.2276G>T (p.Arg759Met)
c.*839G>T (n.*839G>T)
c.2315G>T (p.Arg772Met)
c.2135G>T (p.Arg712Met)
c.2609G>T (p.Arg870Met)
c.2468G>T (p.Arg823Met)
c.2429G>T (p.Arg810Met)
c.2288G>T (p.Arg763Met)
12g.109784318C=CA2062557876TRPV4c.2456G= (p.Arg819=)
c.*1543G= (n.*1543G=)
c.2354G= (p.Arg785=)
c.2276G= (p.Arg759=)
c.*839G= (n.*839G=)
c.2315G= (p.Arg772=)
c.2135G= (p.Arg712=)
c.2609G= (p.Arg870=)
c.2468G= (p.Arg823=)
c.2429G= (p.Arg810=)
c.2288G= (p.Arg763=)
12g.109784318C>GCA386648687TRPV4c.2456G>C (p.Arg819Thr)
c.*1543G>C (n.*1543G>C)
c.2354G>C (p.Arg785Thr)
c.2276G>C (p.Arg759Thr)
c.*839G>C (n.*839G>C)
c.2315G>C (p.Arg772Thr)
c.2135G>C (p.Arg712Thr)
c.2609G>C (p.Arg870Thr)
c.2468G>C (p.Arg823Thr)
c.2429G>C (p.Arg810Thr)
c.2288G>C (p.Arg763Thr)
12g.109784318C>TCA386648688TRPV4c.2456G>A (p.Arg819Lys)
c.*1543G>A (n.*1543G>A)
c.2354G>A (p.Arg785Lys)
c.2276G>A (p.Arg759Lys)
c.*839G>A (n.*839G>A)
c.2315G>A (p.Arg772Lys)
c.2135G>A (p.Arg712Lys)
c.2609G>A (p.Arg870Lys)
c.2468G>A (p.Arg823Lys)
c.2429G>A (p.Arg810Lys)
c.2288G>A (p.Arg763Lys)
ClinVar dbSNP gnomAD v4
12g.109784319T>ACA386648689TRPV4c.2455A>T (p.Arg819Trp)
c.*1542A>T (n.*1542A>T)
c.2353A>T (p.Arg785Trp)
c.2275A>T (p.Arg759Trp)
c.*838A>T (n.*838A>T)
c.2314A>T (p.Arg772Trp)
c.2134A>T (p.Arg712Trp)
c.2608A>T (p.Arg870Trp)
c.2467A>T (p.Arg823Trp)
c.2428A>T (p.Arg810Trp)
c.2287A>T (p.Arg763Trp)
12g.109784319T>CCA243494679TRPV4c.2455A>G (p.Arg819Gly)
c.*1542A>G (n.*1542A>G)
c.2353A>G (p.Arg785Gly)
c.2275A>G (p.Arg759Gly)
c.*838A>G (n.*838A>G)
c.2314A>G (p.Arg772Gly)
c.2134A>G (p.Arg712Gly)
c.2608A>G (p.Arg870Gly)
c.2467A>G (p.Arg823Gly)
c.2428A>G (p.Arg810Gly)
c.2287A>G (p.Arg763Gly)
dbSNP gnomAD v4
12g.109784319T>GCA481723982TRPV4c.2455A>C (p.Arg819=)
c.*1542A>C (n.*1542A>C)
c.2353A>C (p.Arg785=)
c.2275A>C (p.Arg759=)
c.*838A>C (n.*838A>C)
c.2314A>C (p.Arg772=)
c.2134A>C (p.Arg712=)
c.2608A>C (p.Arg870=)
c.2467A>C (p.Arg823=)
c.2428A>C (p.Arg810=)
c.2287A>C (p.Arg763=)
12g.109784319T=CA2062557879TRPV4c.2455A= (p.Arg819=)
c.*1542A= (n.*1542A=)
c.2353A= (p.Arg785=)
c.2275A= (p.Arg759=)
c.*838A= (n.*838A=)
c.2314A= (p.Arg772=)
c.2134A= (p.Arg712=)
c.2608A= (p.Arg870=)
c.2467A= (p.Arg823=)
c.2428A= (p.Arg810=)
c.2287A= (p.Arg763=)
12g.109784320G>ACA481723983TRPV4c.2454C>T (p.Arg818=)
c.*1541C>T (n.*1541C>T)
c.2352C>T (p.Arg784=)
c.2274C>T (p.Arg758=)
c.*837C>T (n.*837C>T)
c.2313C>T (p.Arg771=)
c.2133C>T (p.Arg711=)
c.2607C>T (p.Arg869=)
c.2466C>T (p.Arg822=)
c.2427C>T (p.Arg809=)
c.2286C>T (p.Arg762=)
12g.109784320G>CCA481723984TRPV4c.2454C>G (p.Arg818=)
c.*1541C>G (n.*1541C>G)
c.2352C>G (p.Arg784=)
c.2274C>G (p.Arg758=)
c.*837C>G (n.*837C>G)
c.2313C>G (p.Arg771=)
c.2133C>G (p.Arg711=)
c.2607C>G (p.Arg869=)
c.2466C>G (p.Arg822=)
c.2427C>G (p.Arg809=)
c.2286C>G (p.Arg762=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.109784320G=CA2062557881TRPV4c.2454C= (p.Arg818=)
c.*1541C= (n.*1541C=)
c.2352C= (p.Arg784=)
c.2274C= (p.Arg758=)
c.*837C= (n.*837C=)
c.2313C= (p.Arg771=)
c.2133C= (p.Arg711=)
c.2607C= (p.Arg869=)
c.2466C= (p.Arg822=)
c.2427C= (p.Arg809=)
c.2286C= (p.Arg762=)
12g.109784320G>TCA481723985TRPV4c.2454C>A (p.Arg818=)
c.*1541C>A (n.*1541C>A)
c.2352C>A (p.Arg784=)
c.2274C>A (p.Arg758=)
c.*837C>A (n.*837C>A)
c.2313C>A (p.Arg771=)
c.2133C>A (p.Arg711=)
c.2607C>A (p.Arg869=)
c.2466C>A (p.Arg822=)
c.2427C>A (p.Arg809=)
c.2286C>A (p.Arg762=)
12g.109784321C>ACA386648690TRPV4c.2453G>T (p.Arg818Leu)
c.*1540G>T (n.*1540G>T)
c.2351G>T (p.Arg784Leu)
c.2273G>T (p.Arg758Leu)
c.*836G>T (n.*836G>T)
c.2312G>T (p.Arg771Leu)
c.2132G>T (p.Arg711Leu)
c.2606G>T (p.Arg869Leu)
c.2465G>T (p.Arg822Leu)
c.2426G>T (p.Arg809Leu)
c.2285G>T (p.Arg762Leu)
12g.109784321C>GCA386648692TRPV4c.2453G>C (p.Arg818Pro)
c.*1540G>C (n.*1540G>C)
c.2351G>C (p.Arg784Pro)
c.2273G>C (p.Arg758Pro)
c.*836G>C (n.*836G>C)
c.2312G>C (p.Arg771Pro)
c.2132G>C (p.Arg711Pro)
c.2606G>C (p.Arg869Pro)
c.2465G>C (p.Arg822Pro)
c.2426G>C (p.Arg809Pro)
c.2285G>C (p.Arg762Pro)
12g.109784321C>TCA386648691TRPV4c.2453G>A (p.Arg818His)
c.*1540G>A (n.*1540G>A)
c.2351G>A (p.Arg784His)
c.2273G>A (p.Arg758His)
c.*836G>A (n.*836G>A)
c.2312G>A (p.Arg771His)
c.2132G>A (p.Arg711His)
c.2606G>A (p.Arg869His)
c.2465G>A (p.Arg822His)
c.2426G>A (p.Arg809His)
c.2285G>A (p.Arg762His)
gnomAD v4
12g.109784322G>ACA6779920TRPV4c.2452C>T (p.Arg818Cys)
c.*1539C>T (n.*1539C>T)
c.2350C>T (p.Arg784Cys)
c.2272C>T (p.Arg758Cys)
c.*835C>T (n.*835C>T)
c.2311C>T (p.Arg771Cys)
c.2131C>T (p.Arg711Cys)
c.2605C>T (p.Arg869Cys)
c.2464C>T (p.Arg822Cys)
c.2425C>T (p.Arg809Cys)
c.2284C>T (p.Arg762Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.109784322G>CCA386648693TRPV4c.2452C>G (p.Arg818Gly)
c.*1539C>G (n.*1539C>G)
c.2350C>G (p.Arg784Gly)
c.2272C>G (p.Arg758Gly)
c.*835C>G (n.*835C>G)
c.2311C>G (p.Arg771Gly)
c.2131C>G (p.Arg711Gly)
c.2605C>G (p.Arg869Gly)
c.2464C>G (p.Arg822Gly)
c.2425C>G (p.Arg809Gly)
c.2284C>G (p.Arg762Gly)
12g.109784322G=CA2062557883TRPV4c.2452C= (p.Arg818=)
c.*1539C= (n.*1539C=)
c.2350C= (p.Arg784=)
c.2272C= (p.Arg758=)
c.*835C= (n.*835C=)
c.2311C= (p.Arg771=)
c.2131C= (p.Arg711=)
c.2605C= (p.Arg869=)
c.2464C= (p.Arg822=)
c.2425C= (p.Arg809=)
c.2284C= (p.Arg762=)
12g.109784322G>TCA386648694TRPV4c.2452C>A (p.Arg818Ser)
c.*1539C>A (n.*1539C>A)
c.2350C>A (p.Arg784Ser)
c.2272C>A (p.Arg758Ser)
c.*835C>A (n.*835C>A)
c.2311C>A (p.Arg771Ser)
c.2131C>A (p.Arg711Ser)
c.2605C>A (p.Arg869Ser)
c.2464C>A (p.Arg822Ser)
c.2425C>A (p.Arg809Ser)
c.2284C>A (p.Arg762Ser)
12g.109784323G>ACA481723986TRPV4c.2451C>T (p.Leu817=)
c.*1538C>T (n.*1538C>T)
c.2349C>T (p.Leu783=)
c.2271C>T (p.Leu757=)
c.*834C>T (n.*834C>T)
c.2310C>T (p.Leu770=)
c.2130C>T (p.Leu710=)
c.2604C>T (p.Leu868=)
c.2463C>T (p.Leu821=)
c.2424C>T (p.Leu808=)
c.2283C>T (p.Leu761=)
12g.109784323G>CCA481723987TRPV4c.2451C>G (p.Leu817=)
c.*1538C>G (n.*1538C>G)
c.2349C>G (p.Leu783=)
c.2271C>G (p.Leu757=)
c.*834C>G (n.*834C>G)
c.2310C>G (p.Leu770=)
c.2130C>G (p.Leu710=)
c.2604C>G (p.Leu868=)
c.2463C>G (p.Leu821=)
c.2424C>G (p.Leu808=)
c.2283C>G (p.Leu761=)
12g.109784323G>TCA481723988TRPV4c.2451C>A (p.Leu817=)
c.*1538C>A (n.*1538C>A)
c.2349C>A (p.Leu783=)
c.2271C>A (p.Leu757=)
c.*834C>A (n.*834C>A)
c.2310C>A (p.Leu770=)
c.2130C>A (p.Leu710=)
c.2604C>A (p.Leu868=)
c.2463C>A (p.Leu821=)
c.2424C>A (p.Leu808=)
c.2283C>A (p.Leu761=)
12g.109784324A>CCA386648695TRPV4c.2450T>G (p.Leu817Arg)
c.*1537T>G (n.*1537T>G)
c.2348T>G (p.Leu783Arg)
c.2270T>G (p.Leu757Arg)
c.*833T>G (n.*833T>G)
c.2309T>G (p.Leu770Arg)
c.2129T>G (p.Leu710Arg)
c.2603T>G (p.Leu868Arg)
c.2462T>G (p.Leu821Arg)
c.2423T>G (p.Leu808Arg)
c.2282T>G (p.Leu761Arg)
gnomAD v4
12g.109784324A>GCA386648696TRPV4c.2450T>C (p.Leu817Pro)
c.*1537T>C (n.*1537T>C)
c.2348T>C (p.Leu783Pro)
c.2270T>C (p.Leu757Pro)
c.*833T>C (n.*833T>C)
c.2309T>C (p.Leu770Pro)
c.2129T>C (p.Leu710Pro)
c.2603T>C (p.Leu868Pro)
c.2462T>C (p.Leu821Pro)
c.2423T>C (p.Leu808Pro)
c.2282T>C (p.Leu761Pro)
12g.109784324A>TCA386648697TRPV4c.2450T>A (p.Leu817His)
c.*1537T>A (n.*1537T>A)
c.2348T>A (p.Leu783His)
c.2270T>A (p.Leu757His)
c.*833T>A (n.*833T>A)
c.2309T>A (p.Leu770His)
c.2129T>A (p.Leu710His)
c.2603T>A (p.Leu868His)
c.2462T>A (p.Leu821His)
c.2423T>A (p.Leu808His)
c.2282T>A (p.Leu761His)
12g.109784325G>ACA386648698TRPV4c.2449C>T (p.Leu817Phe)
c.*1536C>T (n.*1536C>T)
c.2347C>T (p.Leu783Phe)
c.2269C>T (p.Leu757Phe)
c.*832C>T (n.*832C>T)
c.2308C>T (p.Leu770Phe)
c.2128C>T (p.Leu710Phe)
c.2602C>T (p.Leu868Phe)
c.2461C>T (p.Leu821Phe)
c.2422C>T (p.Leu808Phe)
c.2281C>T (p.Leu761Phe)
12g.109784325G>CCA386648699TRPV4c.2449C>G (p.Leu817Val)
c.*1536C>G (n.*1536C>G)
c.2347C>G (p.Leu783Val)
c.2269C>G (p.Leu757Val)
c.*832C>G (n.*832C>G)
c.2308C>G (p.Leu770Val)
c.2128C>G (p.Leu710Val)
c.2602C>G (p.Leu868Val)
c.2461C>G (p.Leu821Val)
c.2422C>G (p.Leu808Val)
c.2281C>G (p.Leu761Val)
12g.109784325G>TCA386648700TRPV4c.2449C>A (p.Leu817Ile)
c.*1536C>A (n.*1536C>A)
c.2347C>A (p.Leu783Ile)
c.2269C>A (p.Leu757Ile)
c.*832C>A (n.*832C>A)
c.2308C>A (p.Leu770Ile)
c.2128C>A (p.Leu710Ile)
c.2602C>A (p.Leu868Ile)
c.2461C>A (p.Leu821Ile)
c.2422C>A (p.Leu808Ile)
c.2281C>A (p.Leu761Ile)
12g.109784326G>ACA481723989TRPV4c.2448C>T (p.Arg816=)
c.*1535C>T (n.*1535C>T)
c.2346C>T (p.Arg782=)
c.2268C>T (p.Arg756=)
c.*831C>T (n.*831C>T)
c.2307C>T (p.Arg769=)
c.2127C>T (p.Arg709=)
c.2601C>T (p.Arg867=)
c.2460C>T (p.Arg820=)
c.2421C>T (p.Arg807=)
c.2280C>T (p.Arg760=)
12g.109784326G>CCA481723990TRPV4c.2448C>G (p.Arg816=)
c.*1535C>G (n.*1535C>G)
c.2346C>G (p.Arg782=)
c.2268C>G (p.Arg756=)
c.*831C>G (n.*831C>G)
c.2307C>G (p.Arg769=)
c.2127C>G (p.Arg709=)
c.2601C>G (p.Arg867=)
c.2460C>G (p.Arg820=)
c.2421C>G (p.Arg807=)
c.2280C>G (p.Arg760=)
12g.109784326G>TCA481723991TRPV4c.2448C>A (p.Arg816=)
c.*1535C>A (n.*1535C>A)
c.2346C>A (p.Arg782=)
c.2268C>A (p.Arg756=)
c.*831C>A (n.*831C>A)
c.2307C>A (p.Arg769=)
c.2127C>A (p.Arg709=)
c.2601C>A (p.Arg867=)
c.2460C>A (p.Arg820=)
c.2421C>A (p.Arg807=)
c.2280C>A (p.Arg760=)
12g.109784327C>ACA386648701TRPV4c.2447G>T (p.Arg816Leu)
c.*1534G>T (n.*1534G>T)
c.2345G>T (p.Arg782Leu)
c.2267G>T (p.Arg756Leu)
c.*830G>T (n.*830G>T)
c.2306G>T (p.Arg769Leu)
c.2126G>T (p.Arg709Leu)
c.2600G>T (p.Arg867Leu)
c.2459G>T (p.Arg820Leu)
c.2420G>T (p.Arg807Leu)
c.2279G>T (p.Arg760Leu)
12g.109784327C=CA2062557888TRPV4c.2447G= (p.Arg816=)
c.*1534G= (n.*1534G=)
c.2345G= (p.Arg782=)
c.2267G= (p.Arg756=)
c.*830G= (n.*830G=)
c.2306G= (p.Arg769=)
c.2126G= (p.Arg709=)
c.2600G= (p.Arg867=)
c.2459G= (p.Arg820=)
c.2420G= (p.Arg807=)
c.2279G= (p.Arg760=)
12g.109784327C>GCA386648702TRPV4c.2447G>C (p.Arg816Pro)
c.*1534G>C (n.*1534G>C)
c.2345G>C (p.Arg782Pro)
c.2267G>C (p.Arg756Pro)
c.*830G>C (n.*830G>C)
c.2306G>C (p.Arg769Pro)
c.2126G>C (p.Arg709Pro)
c.2600G>C (p.Arg867Pro)
c.2459G>C (p.Arg820Pro)
c.2420G>C (p.Arg807Pro)
c.2279G>C (p.Arg760Pro)
12g.109784327C>TCA386648703TRPV4c.2447G>A (p.Arg816His)
c.*1534G>A (n.*1534G>A)
c.2345G>A (p.Arg782His)
c.2267G>A (p.Arg756His)
c.*830G>A (n.*830G>A)
c.2306G>A (p.Arg769His)
c.2126G>A (p.Arg709His)
c.2600G>A (p.Arg867His)
c.2459G>A (p.Arg820His)
c.2420G>A (p.Arg807His)
c.2279G>A (p.Arg760His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.109784328G>ACA6779921TRPV4c.2446C>T (p.Arg816Cys)
c.*1533C>T (n.*1533C>T)
c.2344C>T (p.Arg782Cys)
c.2266C>T (p.Arg756Cys)
c.*829C>T (n.*829C>T)
c.2305C>T (p.Arg769Cys)
c.2125C>T (p.Arg709Cys)
c.2599C>T (p.Arg867Cys)
c.2458C>T (p.Arg820Cys)
c.2419C>T (p.Arg807Cys)
c.2278C>T (p.Arg760Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784328G>CCA386648704TRPV4c.2446C>G (p.Arg816Gly)
c.*1533C>G (n.*1533C>G)
c.2344C>G (p.Arg782Gly)
c.2266C>G (p.Arg756Gly)
c.*829C>G (n.*829C>G)
c.2305C>G (p.Arg769Gly)
c.2125C>G (p.Arg709Gly)
c.2599C>G (p.Arg867Gly)
c.2458C>G (p.Arg820Gly)
c.2419C>G (p.Arg807Gly)
c.2278C>G (p.Arg760Gly)
ClinVar dbSNP
12g.109784328G=CA2062557893TRPV4c.2446C= (p.Arg816=)
c.*1533C= (n.*1533C=)
c.2344C= (p.Arg782=)
c.2266C= (p.Arg756=)
c.*829C= (n.*829C=)
c.2305C= (p.Arg769=)
c.2125C= (p.Arg709=)
c.2599C= (p.Arg867=)
c.2458C= (p.Arg820=)
c.2419C= (p.Arg807=)
c.2278C= (p.Arg760=)
12g.109784328G>TCA386648705TRPV4c.2446C>A (p.Arg816Ser)
c.*1533C>A (n.*1533C>A)
c.2344C>A (p.Arg782Ser)
c.2266C>A (p.Arg756Ser)
c.*829C>A (n.*829C>A)
c.2305C>A (p.Arg769Ser)
c.2125C>A (p.Arg709Ser)
c.2599C>A (p.Arg867Ser)
c.2458C>A (p.Arg820Ser)
c.2419C>A (p.Arg807Ser)
c.2278C>A (p.Arg760Ser)
12g.109784329G>ACA481723992TRPV4c.2445C>T (p.Gly815=)
c.*1532C>T (n.*1532C>T)
c.2343C>T (p.Gly781=)
c.2265C>T (p.Gly755=)
c.*828C>T (n.*828C>T)
c.2304C>T (p.Gly768=)
c.2124C>T (p.Gly708=)
c.2598C>T (p.Gly866=)
c.2457C>T (p.Gly819=)
c.2418C>T (p.Gly806=)
c.2277C>T (p.Gly759=)
12g.109784329G>CCA481723993TRPV4c.2445C>G (p.Gly815=)
c.*1532C>G (n.*1532C>G)
c.2343C>G (p.Gly781=)
c.2265C>G (p.Gly755=)
c.*828C>G (n.*828C>G)
c.2304C>G (p.Gly768=)
c.2124C>G (p.Gly708=)
c.2598C>G (p.Gly866=)
c.2457C>G (p.Gly819=)
c.2418C>G (p.Gly806=)
c.2277C>G (p.Gly759=)
12g.109784329G>TCA481723994TRPV4c.2445C>A (p.Gly815=)
c.*1532C>A (n.*1532C>A)
c.2343C>A (p.Gly781=)
c.2265C>A (p.Gly755=)
c.*828C>A (n.*828C>A)
c.2304C>A (p.Gly768=)
c.2124C>A (p.Gly708=)
c.2598C>A (p.Gly866=)
c.2457C>A (p.Gly819=)
c.2418C>A (p.Gly806=)
c.2277C>A (p.Gly759=)
12g.109784330C>ACA386648706TRPV4c.2444G>T (p.Gly815Val)
c.*1531G>T (n.*1531G>T)
c.2342G>T (p.Gly781Val)
c.2264G>T (p.Gly755Val)
c.*827G>T (n.*827G>T)
c.2303G>T (p.Gly768Val)
c.2123G>T (p.Gly708Val)
c.2597G>T (p.Gly866Val)
c.2456G>T (p.Gly819Val)
c.2417G>T (p.Gly806Val)
c.2276G>T (p.Gly759Val)
12g.109784330C>GCA386648707TRPV4c.2444G>C (p.Gly815Ala)
c.*1531G>C (n.*1531G>C)
c.2342G>C (p.Gly781Ala)
c.2264G>C (p.Gly755Ala)
c.*827G>C (n.*827G>C)
c.2303G>C (p.Gly768Ala)
c.2123G>C (p.Gly708Ala)
c.2597G>C (p.Gly866Ala)
c.2456G>C (p.Gly819Ala)
c.2417G>C (p.Gly806Ala)
c.2276G>C (p.Gly759Ala)
12g.109784330C>TCA386648708TRPV4c.2444G>A (p.Gly815Asp)
c.*1531G>A (n.*1531G>A)
c.2342G>A (p.Gly781Asp)
c.2264G>A (p.Gly755Asp)
c.*827G>A (n.*827G>A)
c.2303G>A (p.Gly768Asp)
c.2123G>A (p.Gly708Asp)
c.2597G>A (p.Gly866Asp)
c.2456G>A (p.Gly819Asp)
c.2417G>A (p.Gly806Asp)
c.2276G>A (p.Gly759Asp)
gnomAD v4
12g.109784331C>ACA386648709TRPV4c.2443G>T (p.Gly815Cys)
c.*1530G>T (n.*1530G>T)
c.2341G>T (p.Gly781Cys)
c.2263G>T (p.Gly755Cys)
c.*826G>T (n.*826G>T)
c.2302G>T (p.Gly768Cys)
c.2122G>T (p.Gly708Cys)
c.2596G>T (p.Gly866Cys)
c.2455G>T (p.Gly819Cys)
c.2416G>T (p.Gly806Cys)
c.2275G>T (p.Gly759Cys)
12g.109784331C>GCA386648710TRPV4c.2443G>C (p.Gly815Arg)
c.*1530G>C (n.*1530G>C)
c.2341G>C (p.Gly781Arg)
c.2263G>C (p.Gly755Arg)
c.*826G>C (n.*826G>C)
c.2302G>C (p.Gly768Arg)
c.2122G>C (p.Gly708Arg)
c.2596G>C (p.Gly866Arg)
c.2455G>C (p.Gly819Arg)
c.2416G>C (p.Gly806Arg)
c.2275G>C (p.Gly759Arg)
12g.109784331C>TCA386648711TRPV4c.2443G>A (p.Gly815Ser)
c.*1530G>A (n.*1530G>A)
c.2341G>A (p.Gly781Ser)
c.2263G>A (p.Gly755Ser)
c.*826G>A (n.*826G>A)
c.2302G>A (p.Gly768Ser)
c.2122G>A (p.Gly708Ser)
c.2596G>A (p.Gly866Ser)
c.2455G>A (p.Gly819Ser)
c.2416G>A (p.Gly806Ser)
c.2275G>A (p.Gly759Ser)
12g.109784332C>ACA481723995TRPV4c.2442G>T (p.Val814=)
c.*1529G>T (n.*1529G>T)
c.2340G>T (p.Val780=)
c.2262G>T (p.Val754=)
c.*825G>T (n.*825G>T)
c.2301G>T (p.Val767=)
c.2121G>T (p.Val707=)
c.2595G>T (p.Val865=)
c.2454G>T (p.Val818=)
c.2415G>T (p.Val805=)
c.2274G>T (p.Val758=)
12g.109784332C>GCA481723996TRPV4c.2442G>C (p.Val814=)
c.*1529G>C (n.*1529G>C)
c.2340G>C (p.Val780=)
c.2262G>C (p.Val754=)
c.*825G>C (n.*825G>C)
c.2301G>C (p.Val767=)
c.2121G>C (p.Val707=)
c.2595G>C (p.Val865=)
c.2454G>C (p.Val818=)
c.2415G>C (p.Val805=)
c.2274G>C (p.Val758=)
12g.109784332C>TCA481723997TRPV4c.2442G>A (p.Val814=)
c.*1529G>A (n.*1529G>A)
c.2340G>A (p.Val780=)
c.2262G>A (p.Val754=)
c.*825G>A (n.*825G>A)
c.2301G>A (p.Val767=)
c.2121G>A (p.Val707=)
c.2595G>A (p.Val865=)
c.2454G>A (p.Val818=)
c.2415G>A (p.Val805=)
c.2274G>A (p.Val758=)
12g.109784333A>CCA386648712TRPV4c.2441T>G (p.Val814Gly)
c.*1528T>G (n.*1528T>G)
c.2339T>G (p.Val780Gly)
c.2261T>G (p.Val754Gly)
c.*824T>G (n.*824T>G)
c.2300T>G (p.Val767Gly)
c.2120T>G (p.Val707Gly)
c.2594T>G (p.Val865Gly)
c.2453T>G (p.Val818Gly)
c.2414T>G (p.Val805Gly)
c.2273T>G (p.Val758Gly)
12g.109784333A>GCA386648713TRPV4c.2441T>C (p.Val814Ala)
c.*1528T>C (n.*1528T>C)
c.2339T>C (p.Val780Ala)
c.2261T>C (p.Val754Ala)
c.*824T>C (n.*824T>C)
c.2300T>C (p.Val767Ala)
c.2120T>C (p.Val707Ala)
c.2594T>C (p.Val865Ala)
c.2453T>C (p.Val818Ala)
c.2414T>C (p.Val805Ala)
c.2273T>C (p.Val758Ala)
12g.109784333A>TCA386648714TRPV4c.2441T>A (p.Val814Glu)
c.*1528T>A (n.*1528T>A)
c.2339T>A (p.Val780Glu)
c.2261T>A (p.Val754Glu)
c.*824T>A (n.*824T>A)
c.2300T>A (p.Val767Glu)
c.2120T>A (p.Val707Glu)
c.2594T>A (p.Val865Glu)
c.2453T>A (p.Val818Glu)
c.2414T>A (p.Val805Glu)
c.2273T>A (p.Val758Glu)
12g.109784334C>ACA6779923TRPV4c.2440G>T (p.Val814Leu)
c.*1527G>T (n.*1527G>T)
c.2338G>T (p.Val780Leu)
c.2260G>T (p.Val754Leu)
c.*823G>T (n.*823G>T)
c.2299G>T (p.Val767Leu)
c.2119G>T (p.Val707Leu)
c.2593G>T (p.Val865Leu)
c.2452G>T (p.Val818Leu)
c.2413G>T (p.Val805Leu)
c.2272G>T (p.Val758Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784334C=CA2062557897TRPV4c.2440G= (p.Val814=)
c.*1527G= (n.*1527G=)
c.2338G= (p.Val780=)
c.2260G= (p.Val754=)
c.*823G= (n.*823G=)
c.2299G= (p.Val767=)
c.2119G= (p.Val707=)
c.2593G= (p.Val865=)
c.2452G= (p.Val818=)
c.2413G= (p.Val805=)
c.2272G= (p.Val758=)
12g.109784334C>GCA386648715TRPV4c.2440G>C (p.Val814Leu)
c.*1527G>C (n.*1527G>C)
c.2338G>C (p.Val780Leu)
c.2260G>C (p.Val754Leu)
c.*823G>C (n.*823G>C)
c.2299G>C (p.Val767Leu)
c.2119G>C (p.Val707Leu)
c.2593G>C (p.Val865Leu)
c.2452G>C (p.Val818Leu)
c.2413G>C (p.Val805Leu)
c.2272G>C (p.Val758Leu)
12g.109784334C>TCA6779922TRPV4c.2440G>A (p.Val814Met)
c.*1527G>A (n.*1527G>A)
c.2338G>A (p.Val780Met)
c.2260G>A (p.Val754Met)
c.*823G>A (n.*823G>A)
c.2299G>A (p.Val767Met)
c.2119G>A (p.Val707Met)
c.2593G>A (p.Val865Met)
c.2452G>A (p.Val818Met)
c.2413G>A (p.Val805Met)
c.2272G>A (p.Val758Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784335G>ACA6779924TRPV4c.2439C>T (p.Thr813=)
c.*1526C>T (n.*1526C>T)
c.2337C>T (p.Thr779=)
c.2259C>T (p.Thr753=)
c.*822C>T (n.*822C>T)
c.2298C>T (p.Thr766=)
c.2118C>T (p.Thr706=)
c.2592C>T (p.Thr864=)
c.2451C>T (p.Thr817=)
c.2412C>T (p.Thr804=)
c.2271C>T (p.Thr757=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784335G>CCA481723998TRPV4c.2439C>G (p.Thr813=)
c.*1526C>G (n.*1526C>G)
c.2337C>G (p.Thr779=)
c.2259C>G (p.Thr753=)
c.*822C>G (n.*822C>G)
c.2298C>G (p.Thr766=)
c.2118C>G (p.Thr706=)
c.2592C>G (p.Thr864=)
c.2451C>G (p.Thr817=)
c.2412C>G (p.Thr804=)
c.2271C>G (p.Thr757=)
gnomAD v4
12g.109784335G=CA2062557899TRPV4c.2439C= (p.Thr813=)
c.*1526C= (n.*1526C=)
c.2337C= (p.Thr779=)
c.2259C= (p.Thr753=)
c.*822C= (n.*822C=)
c.2298C= (p.Thr766=)
c.2118C= (p.Thr706=)
c.2592C= (p.Thr864=)
c.2451C= (p.Thr817=)
c.2412C= (p.Thr804=)
c.2271C= (p.Thr757=)
12g.109784335G>TCA6779925TRPV4c.2439C>A (p.Thr813=)
c.*1526C>A (n.*1526C>A)
c.2337C>A (p.Thr779=)
c.2259C>A (p.Thr753=)
c.*822C>A (n.*822C>A)
c.2298C>A (p.Thr766=)
c.2118C>A (p.Thr706=)
c.2592C>A (p.Thr864=)
c.2451C>A (p.Thr817=)
c.2412C>A (p.Thr804=)
c.2271C>A (p.Thr757=)
dbSNP ExAC
12g.109784336G>ACA386648716TRPV4c.2438C>T (p.Thr813Ile)
c.*1525C>T (n.*1525C>T)
c.2336C>T (p.Thr779Ile)
c.2258C>T (p.Thr753Ile)
c.*821C>T (n.*821C>T)
c.2297C>T (p.Thr766Ile)
c.2117C>T (p.Thr706Ile)
c.2591C>T (p.Thr864Ile)
c.2450C>T (p.Thr817Ile)
c.2411C>T (p.Thr804Ile)
c.2270C>T (p.Thr757Ile)
dbSNP
12g.109784336G>CCA386648717TRPV4c.2438C>G (p.Thr813Ser)
c.*1525C>G (n.*1525C>G)
c.2336C>G (p.Thr779Ser)
c.2258C>G (p.Thr753Ser)
c.*821C>G (n.*821C>G)
c.2297C>G (p.Thr766Ser)
c.2117C>G (p.Thr706Ser)
c.2591C>G (p.Thr864Ser)
c.2450C>G (p.Thr817Ser)
c.2411C>G (p.Thr804Ser)
c.2270C>G (p.Thr757Ser)
12g.109784336G=CA2062557901TRPV4c.2438C= (p.Thr813=)
c.*1525C= (n.*1525C=)
c.2336C= (p.Thr779=)
c.2258C= (p.Thr753=)
c.*821C= (n.*821C=)
c.2297C= (p.Thr766=)
c.2117C= (p.Thr706=)
c.2591C= (p.Thr864=)
c.2450C= (p.Thr817=)
c.2411C= (p.Thr804=)
c.2270C= (p.Thr757=)
12g.109784336G>TCA386648718TRPV4c.2438C>A (p.Thr813Asn)
c.*1525C>A (n.*1525C>A)
c.2336C>A (p.Thr779Asn)
c.2258C>A (p.Thr753Asn)
c.*821C>A (n.*821C>A)
c.2297C>A (p.Thr766Asn)
c.2117C>A (p.Thr706Asn)
c.2591C>A (p.Thr864Asn)
c.2450C>A (p.Thr817Asn)
c.2411C>A (p.Thr804Asn)
c.2270C>A (p.Thr757Asn)
12g.109784337T>ACA386648719TRPV4c.2437A>T (p.Thr813Ser)
c.*1524A>T (n.*1524A>T)
c.2335A>T (p.Thr779Ser)
c.2257A>T (p.Thr753Ser)
c.*820A>T (n.*820A>T)
c.2296A>T (p.Thr766Ser)
c.2116A>T (p.Thr706Ser)
c.2590A>T (p.Thr864Ser)
c.2449A>T (p.Thr817Ser)
c.2410A>T (p.Thr804Ser)
c.2269A>T (p.Thr757Ser)
12g.109784337T>CCA386648720TRPV4c.2437A>G (p.Thr813Ala)
c.*1524A>G (n.*1524A>G)
c.2335A>G (p.Thr779Ala)
c.2257A>G (p.Thr753Ala)
c.*820A>G (n.*820A>G)
c.2296A>G (p.Thr766Ala)
c.2116A>G (p.Thr706Ala)
c.2590A>G (p.Thr864Ala)
c.2449A>G (p.Thr817Ala)
c.2410A>G (p.Thr804Ala)
c.2269A>G (p.Thr757Ala)
gnomAD v4
12g.109784337T>GCA386648721TRPV4c.2437A>C (p.Thr813Pro)
c.*1524A>C (n.*1524A>C)
c.2335A>C (p.Thr779Pro)
c.2257A>C (p.Thr753Pro)
c.*820A>C (n.*820A>C)
c.2296A>C (p.Thr766Pro)
c.2116A>C (p.Thr706Pro)
c.2590A>C (p.Thr864Pro)
c.2449A>C (p.Thr817Pro)
c.2410A>C (p.Thr804Pro)
c.2269A>C (p.Thr757Pro)
12g.109784338A>CCA386648723TRPV4c.2436T>G (p.His812Gln)
c.*1523T>G (n.*1523T>G)
c.2334T>G (p.His778Gln)
c.2256T>G (p.His752Gln)
c.*819T>G (n.*819T>G)
c.2295T>G (p.His765Gln)
c.2115T>G (p.His705Gln)
c.2589T>G (p.His863Gln)
c.2448T>G (p.His816Gln)
c.2409T>G (p.His803Gln)
c.2268T>G (p.His756Gln)
12g.109784338A>GCA481723999TRPV4c.2436T>C (p.His812=)
c.*1523T>C (n.*1523T>C)
c.2334T>C (p.His778=)
c.2256T>C (p.His752=)
c.*819T>C (n.*819T>C)
c.2295T>C (p.His765=)
c.2115T>C (p.His705=)
c.2589T>C (p.His863=)
c.2448T>C (p.His816=)
c.2409T>C (p.His803=)
c.2268T>C (p.His756=)
12g.109784338A>TCA386648722TRPV4c.2436T>A (p.His812Gln)
c.*1523T>A (n.*1523T>A)
c.2334T>A (p.His778Gln)
c.2256T>A (p.His752Gln)
c.*819T>A (n.*819T>A)
c.2295T>A (p.His765Gln)
c.2115T>A (p.His705Gln)
c.2589T>A (p.His863Gln)
c.2448T>A (p.His816Gln)
c.2409T>A (p.His803Gln)
c.2268T>A (p.His756Gln)
12g.109784339T>ACA386648724TRPV4c.2435A>T (p.His812Leu)
c.*1522A>T (n.*1522A>T)
c.2333A>T (p.His778Leu)
c.2255A>T (p.His752Leu)
c.*818A>T (n.*818A>T)
c.2294A>T (p.His765Leu)
c.2114A>T (p.His705Leu)
c.2588A>T (p.His863Leu)
c.2447A>T (p.His816Leu)
c.2408A>T (p.His803Leu)
c.2267A>T (p.His756Leu)
12g.109784339T>CCA386648725TRPV4c.2435A>G (p.His812Arg)
c.*1522A>G (n.*1522A>G)
c.2333A>G (p.His778Arg)
c.2255A>G (p.His752Arg)
c.*818A>G (n.*818A>G)
c.2294A>G (p.His765Arg)
c.2114A>G (p.His705Arg)
c.2588A>G (p.His863Arg)
c.2447A>G (p.His816Arg)
c.2408A>G (p.His803Arg)
c.2267A>G (p.His756Arg)
dbSNP gnomAD v2 gnomAD v4
12g.109784339T>GCA386648726TRPV4c.2435A>C (p.His812Pro)
c.*1522A>C (n.*1522A>C)
c.2333A>C (p.His778Pro)
c.2255A>C (p.His752Pro)
c.*818A>C (n.*818A>C)
c.2294A>C (p.His765Pro)
c.2114A>C (p.His705Pro)
c.2588A>C (p.His863Pro)
c.2447A>C (p.His816Pro)
c.2408A>C (p.His803Pro)
c.2267A>C (p.His756Pro)
12g.109784339T=CA2062557903TRPV4c.2435A= (p.His812=)
c.*1522A= (n.*1522A=)
c.2333A= (p.His778=)
c.2255A= (p.His752=)
c.*818A= (n.*818A=)
c.2294A= (p.His765=)
c.2114A= (p.His705=)
c.2588A= (p.His863=)
c.2447A= (p.His816=)
c.2408A= (p.His803=)
c.2267A= (p.His756=)
12g.109784340G>ACA6779926TRPV4c.2434C>T (p.His812Tyr)
c.*1521C>T (n.*1521C>T)
c.2332C>T (p.His778Tyr)
c.2254C>T (p.His752Tyr)
c.*817C>T (n.*817C>T)
c.2293C>T (p.His765Tyr)
c.2113C>T (p.His705Tyr)
c.2587C>T (p.His863Tyr)
c.2446C>T (p.His816Tyr)
c.2407C>T (p.His803Tyr)
c.2266C>T (p.His756Tyr)
dbSNP ExAC gnomAD v4
12g.109784340G>CCA386648727TRPV4c.2434C>G (p.His812Asp)
c.*1521C>G (n.*1521C>G)
c.2332C>G (p.His778Asp)
c.2254C>G (p.His752Asp)
c.*817C>G (n.*817C>G)
c.2293C>G (p.His765Asp)
c.2113C>G (p.His705Asp)
c.2587C>G (p.His863Asp)
c.2446C>G (p.His816Asp)
c.2407C>G (p.His803Asp)
c.2266C>G (p.His756Asp)
12g.109784340G=CA2062557904TRPV4c.2434C= (p.His812=)
c.*1521C= (n.*1521C=)
c.2332C= (p.His778=)
c.2254C= (p.His752=)
c.*817C= (n.*817C=)
c.2293C= (p.His765=)
c.2113C= (p.His705=)
c.2587C= (p.His863=)
c.2446C= (p.His816=)
c.2407C= (p.His803=)
c.2266C= (p.His756=)
12g.109784340G>TCA386648728TRPV4c.2434C>A (p.His812Asn)
c.*1521C>A (n.*1521C>A)
c.2332C>A (p.His778Asn)
c.2254C>A (p.His752Asn)
c.*817C>A (n.*817C>A)
c.2293C>A (p.His765Asn)
c.2113C>A (p.His705Asn)
c.2587C>A (p.His863Asn)
c.2446C>A (p.His816Asn)
c.2407C>A (p.His803Asn)
c.2266C>A (p.His756Asn)
12g.109784341C>ACA6779928TRPV4c.2433G>T (p.Ser811=)
c.*1520G>T (n.*1520G>T)
c.2331G>T (p.Ser777=)
c.2253G>T (p.Ser751=)
c.*816G>T (n.*816G>T)
c.2292G>T (p.Ser764=)
c.2112G>T (p.Ser704=)
c.2586G>T (p.Ser862=)
c.2445G>T (p.Ser815=)
c.2406G>T (p.Ser802=)
c.2265G>T (p.Ser755=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.109784341C=CA2062557907TRPV4c.2433G= (p.Ser811=)
c.*1520G= (n.*1520G=)
c.2331G= (p.Ser777=)
c.2253G= (p.Ser751=)
c.*816G= (n.*816G=)
c.2292G= (p.Ser764=)
c.2112G= (p.Ser704=)
c.2586G= (p.Ser862=)
c.2445G= (p.Ser815=)
c.2406G= (p.Ser802=)
c.2265G= (p.Ser755=)
12g.109784341C>GCA348949TRPV4c.2433G>C (p.Ser811=)
c.*1520G>C (n.*1520G>C)
c.2331G>C (p.Ser777=)
c.2253G>C (p.Ser751=)
c.*816G>C (n.*816G>C)
c.2292G>C (p.Ser764=)
c.2112G>C (p.Ser704=)
c.2586G>C (p.Ser862=)
c.2445G>C (p.Ser815=)
c.2406G>C (p.Ser802=)
c.2265G>C (p.Ser755=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784341C>TCA6779927TRPV4c.2433G>A (p.Ser811=)
c.*1520G>A (n.*1520G>A)
c.2331G>A (p.Ser777=)
c.2253G>A (p.Ser751=)
c.*816G>A (n.*816G>A)
c.2292G>A (p.Ser764=)
c.2112G>A (p.Ser704=)
c.2586G>A (p.Ser862=)
c.2445G>A (p.Ser815=)
c.2406G>A (p.Ser802=)
c.2265G>A (p.Ser755=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.109784342G>ACA6779929TRPV4c.2432C>T (p.Ser811Leu)
c.*1519C>T (n.*1519C>T)
c.2330C>T (p.Ser777Leu)
c.2252C>T (p.Ser751Leu)
c.*815C>T (n.*815C>T)
c.2291C>T (p.Ser764Leu)
c.2111C>T (p.Ser704Leu)
c.2585C>T (p.Ser862Leu)
c.2444C>T (p.Ser815Leu)
c.2405C>T (p.Ser802Leu)
c.2264C>T (p.Ser755Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784342G>CCA386648729TRPV4c.2432C>G (p.Ser811Trp)
c.*1519C>G (n.*1519C>G)
c.2330C>G (p.Ser777Trp)
c.2252C>G (p.Ser751Trp)
c.*815C>G (n.*815C>G)
c.2291C>G (p.Ser764Trp)
c.2111C>G (p.Ser704Trp)
c.2585C>G (p.Ser862Trp)
c.2444C>G (p.Ser815Trp)
c.2405C>G (p.Ser802Trp)
c.2264C>G (p.Ser755Trp)
12g.109784342G=CA2062557910TRPV4c.2432C= (p.Ser811=)
c.*1519C= (n.*1519C=)
c.2330C= (p.Ser777=)
c.2252C= (p.Ser751=)
c.*815C= (n.*815C=)
c.2291C= (p.Ser764=)
c.2111C= (p.Ser704=)
c.2585C= (p.Ser862=)
c.2444C= (p.Ser815=)
c.2405C= (p.Ser802=)
c.2264C= (p.Ser755=)
12g.109784342G>TCA386648730TRPV4c.2432C>A (p.Ser811Ter)
c.*1519C>A (n.*1519C>A)
c.2330C>A (p.Ser777Ter)
c.2252C>A (p.Ser751Ter)
c.*815C>A (n.*815C>A)
c.2291C>A (p.Ser764Ter)
c.2111C>A (p.Ser704Ter)
c.2585C>A (p.Ser862Ter)
c.2444C>A (p.Ser815Ter)
c.2405C>A (p.Ser802Ter)
c.2264C>A (p.Ser755Ter)
12g.109784343A>CCA386648731TRPV4c.2431T>G (p.Ser811Ala)
c.*1518T>G (n.*1518T>G)
c.2329T>G (p.Ser777Ala)
c.2251T>G (p.Ser751Ala)
c.*814T>G (n.*814T>G)
c.2290T>G (p.Ser764Ala)
c.2110T>G (p.Ser704Ala)
c.2584T>G (p.Ser862Ala)
c.2443T>G (p.Ser815Ala)
c.2404T>G (p.Ser802Ala)
c.2263T>G (p.Ser755Ala)
12g.109784343A>GCA386648732TRPV4c.2431T>C (p.Ser811Pro)
c.*1518T>C (n.*1518T>C)
c.2329T>C (p.Ser777Pro)
c.2251T>C (p.Ser751Pro)
c.*814T>C (n.*814T>C)
c.2290T>C (p.Ser764Pro)
c.2110T>C (p.Ser704Pro)
c.2584T>C (p.Ser862Pro)
c.2443T>C (p.Ser815Pro)
c.2404T>C (p.Ser802Pro)
c.2263T>C (p.Ser755Pro)
12g.109784343A>TCA386648733TRPV4c.2431T>A (p.Ser811Thr)
c.*1518T>A (n.*1518T>A)
c.2329T>A (p.Ser777Thr)
c.2251T>A (p.Ser751Thr)
c.*814T>A (n.*814T>A)
c.2290T>A (p.Ser764Thr)
c.2110T>A (p.Ser704Thr)
c.2584T>A (p.Ser862Thr)
c.2443T>A (p.Ser815Thr)
c.2404T>A (p.Ser802Thr)
c.2263T>A (p.Ser755Thr)
12g.109784344G>ACA6779930TRPV4c.2430C>T (p.Phe810=)
c.*1517C>T (n.*1517C>T)
c.2328C>T (p.Phe776=)
c.2250C>T (p.Phe750=)
c.*813C>T (n.*813C>T)
c.2289C>T (p.Phe763=)
c.2109C>T (p.Phe703=)
c.2583C>T (p.Phe861=)
c.2442C>T (p.Phe814=)
c.2403C>T (p.Phe801=)
c.2262C>T (p.Phe754=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784344G>CCA386648734TRPV4c.2430C>G (p.Phe810Leu)
c.*1517C>G (n.*1517C>G)
c.2328C>G (p.Phe776Leu)
c.2250C>G (p.Phe750Leu)
c.*813C>G (n.*813C>G)
c.2289C>G (p.Phe763Leu)
c.2109C>G (p.Phe703Leu)
c.2583C>G (p.Phe861Leu)
c.2442C>G (p.Phe814Leu)
c.2403C>G (p.Phe801Leu)
c.2262C>G (p.Phe754Leu)
12g.109784344G=CA2062557912TRPV4c.2430C= (p.Phe810=)
c.*1517C= (n.*1517C=)
c.2328C= (p.Phe776=)
c.2250C= (p.Phe750=)
c.*813C= (n.*813C=)
c.2289C= (p.Phe763=)
c.2109C= (p.Phe703=)
c.2583C= (p.Phe861=)
c.2442C= (p.Phe814=)
c.2403C= (p.Phe801=)
c.2262C= (p.Phe754=)
12g.109784344G>TCA386648735TRPV4c.2430C>A (p.Phe810Leu)
c.*1517C>A (n.*1517C>A)
c.2328C>A (p.Phe776Leu)
c.2250C>A (p.Phe750Leu)
c.*813C>A (n.*813C>A)
c.2289C>A (p.Phe763Leu)
c.2109C>A (p.Phe703Leu)
c.2583C>A (p.Phe861Leu)
c.2442C>A (p.Phe814Leu)
c.2403C>A (p.Phe801Leu)
c.2262C>A (p.Phe754Leu)
12g.109784345A>CCA386648736TRPV4c.2429T>G (p.Phe810Cys)
c.*1516T>G (n.*1516T>G)
c.2327T>G (p.Phe776Cys)
c.2249T>G (p.Phe750Cys)
c.*812T>G (n.*812T>G)
c.2288T>G (p.Phe763Cys)
c.2108T>G (p.Phe703Cys)
c.2582T>G (p.Phe861Cys)
c.2441T>G (p.Phe814Cys)
c.2402T>G (p.Phe801Cys)
c.2261T>G (p.Phe754Cys)
12g.109784345A>GCA386648737TRPV4c.2429T>C (p.Phe810Ser)
c.*1516T>C (n.*1516T>C)
c.2327T>C (p.Phe776Ser)
c.2249T>C (p.Phe750Ser)
c.*812T>C (n.*812T>C)
c.2288T>C (p.Phe763Ser)
c.2108T>C (p.Phe703Ser)
c.2582T>C (p.Phe861Ser)
c.2441T>C (p.Phe814Ser)
c.2402T>C (p.Phe801Ser)
c.2261T>C (p.Phe754Ser)
12g.109784345A>TCA386648738TRPV4c.2429T>A (p.Phe810Tyr)
c.*1516T>A (n.*1516T>A)
c.2327T>A (p.Phe776Tyr)
c.2249T>A (p.Phe750Tyr)
c.*812T>A (n.*812T>A)
c.2288T>A (p.Phe763Tyr)
c.2108T>A (p.Phe703Tyr)
c.2582T>A (p.Phe861Tyr)
c.2441T>A (p.Phe814Tyr)
c.2402T>A (p.Phe801Tyr)
c.2261T>A (p.Phe754Tyr)
12g.109784346A=CA2062557914TRPV4c.2428T= (p.Phe810=)
c.*1515T= (n.*1515T=)
c.2326T= (p.Phe776=)
c.2248T= (p.Phe750=)
c.*811T= (n.*811T=)
c.2287T= (p.Phe763=)
c.2107T= (p.Phe703=)
c.2581T= (p.Phe861=)
c.2440T= (p.Phe814=)
c.2401T= (p.Phe801=)
c.2260T= (p.Phe754=)
12g.109784346A>CCA386648741TRPV4c.2428T>G (p.Phe810Val)
c.*1515T>G (n.*1515T>G)
c.2326T>G (p.Phe776Val)
c.2248T>G (p.Phe750Val)
c.*811T>G (n.*811T>G)
c.2287T>G (p.Phe763Val)
c.2107T>G (p.Phe703Val)
c.2581T>G (p.Phe861Val)
c.2440T>G (p.Phe814Val)
c.2401T>G (p.Phe801Val)
c.2260T>G (p.Phe754Val)
dbSNP gnomAD v4
12g.109784346A>GCA386648740TRPV4c.2428T>C (p.Phe810Leu)
c.*1515T>C (n.*1515T>C)
c.2326T>C (p.Phe776Leu)
c.2248T>C (p.Phe750Leu)
c.*811T>C (n.*811T>C)
c.2287T>C (p.Phe763Leu)
c.2107T>C (p.Phe703Leu)
c.2581T>C (p.Phe861Leu)
c.2440T>C (p.Phe814Leu)
c.2401T>C (p.Phe801Leu)
c.2260T>C (p.Phe754Leu)
12g.109784346A>TCA386648739TRPV4c.2428T>A (p.Phe810Ile)
c.*1515T>A (n.*1515T>A)
c.2326T>A (p.Phe776Ile)
c.2248T>A (p.Phe750Ile)
c.*811T>A (n.*811T>A)
c.2287T>A (p.Phe763Ile)
c.2107T>A (p.Phe703Ile)
c.2581T>A (p.Phe861Ile)
c.2440T>A (p.Phe814Ile)
c.2401T>A (p.Phe801Ile)
c.2260T>A (p.Phe754Ile)
COSMIC
12g.109784347G>ACA481724001TRPV4c.2427C>T (p.Gly809=)
c.*1514C>T (n.*1514C>T)
c.2325C>T (p.Gly775=)
c.2247C>T (p.Gly749=)
c.*810C>T (n.*810C>T)
c.2286C>T (p.Gly762=)
c.2106C>T (p.Gly702=)
c.2580C>T (p.Gly860=)
c.2439C>T (p.Gly813=)
c.2400C>T (p.Gly800=)
c.2259C>T (p.Gly753=)
12g.109784347G>CCA481724002TRPV4c.2427C>G (p.Gly809=)
c.*1514C>G (n.*1514C>G)
c.2325C>G (p.Gly775=)
c.2247C>G (p.Gly749=)
c.*810C>G (n.*810C>G)
c.2286C>G (p.Gly762=)
c.2106C>G (p.Gly702=)
c.2580C>G (p.Gly860=)
c.2439C>G (p.Gly813=)
c.2400C>G (p.Gly800=)
c.2259C>G (p.Gly753=)
12g.109784347G>TCA481724003TRPV4c.2427C>A (p.Gly809=)
c.*1514C>A (n.*1514C>A)
c.2325C>A (p.Gly775=)
c.2247C>A (p.Gly749=)
c.*810C>A (n.*810C>A)
c.2286C>A (p.Gly762=)
c.2106C>A (p.Gly702=)
c.2580C>A (p.Gly860=)
c.2439C>A (p.Gly813=)
c.2400C>A (p.Gly800=)
c.2259C>A (p.Gly753=)
12g.109784348C>ACA386648744TRPV4c.2426G>T (p.Gly809Val)
c.*1513G>T (n.*1513G>T)
c.2324G>T (p.Gly775Val)
c.2246G>T (p.Gly749Val)
c.*809G>T (n.*809G>T)
c.2285G>T (p.Gly762Val)
c.2105G>T (p.Gly702Val)
c.2579G>T (p.Gly860Val)
c.2438G>T (p.Gly813Val)
c.2399G>T (p.Gly800Val)
c.2258G>T (p.Gly753Val)
dbSNP
12g.109784348C>GCA386648742TRPV4c.2426G>C (p.Gly809Ala)
c.*1513G>C (n.*1513G>C)
c.2324G>C (p.Gly775Ala)
c.2246G>C (p.Gly749Ala)
c.*809G>C (n.*809G>C)
c.2285G>C (p.Gly762Ala)
c.2105G>C (p.Gly702Ala)
c.2579G>C (p.Gly860Ala)
c.2438G>C (p.Gly813Ala)
c.2399G>C (p.Gly800Ala)
c.2258G>C (p.Gly753Ala)
12g.109784348C>TCA386648743TRPV4c.2426G>A (p.Gly809Asp)
c.*1513G>A (n.*1513G>A)
c.2324G>A (p.Gly775Asp)
c.2246G>A (p.Gly749Asp)
c.*809G>A (n.*809G>A)
c.2285G>A (p.Gly762Asp)
c.2105G>A (p.Gly702Asp)
c.2579G>A (p.Gly860Asp)
c.2438G>A (p.Gly813Asp)
c.2399G>A (p.Gly800Asp)
c.2258G>A (p.Gly753Asp)
ClinVar dbSNP
12g.109784349C>ACA386648745TRPV4c.2425G>T (p.Gly809Cys)
c.*1512G>T (n.*1512G>T)
c.2323G>T (p.Gly775Cys)
c.2245G>T (p.Gly749Cys)
c.*808G>T (n.*808G>T)
c.2284G>T (p.Gly762Cys)
c.2104G>T (p.Gly702Cys)
c.2578G>T (p.Gly860Cys)
c.2437G>T (p.Gly813Cys)
c.2398G>T (p.Gly800Cys)
c.2257G>T (p.Gly753Cys)
12g.109784349C=CA2062557916TRPV4c.2425G= (p.Gly809=)
c.*1512G= (n.*1512G=)
c.2323G= (p.Gly775=)
c.2245G= (p.Gly749=)
c.*808G= (n.*808G=)
c.2284G= (p.Gly762=)
c.2104G= (p.Gly702=)
c.2578G= (p.Gly860=)
c.2437G= (p.Gly813=)
c.2398G= (p.Gly800=)
c.2257G= (p.Gly753=)
12g.109784349C>GCA386648746TRPV4c.2425G>C (p.Gly809Arg)
c.*1512G>C (n.*1512G>C)
c.2323G>C (p.Gly775Arg)
c.2245G>C (p.Gly749Arg)
c.*808G>C (n.*808G>C)
c.2284G>C (p.Gly762Arg)
c.2104G>C (p.Gly702Arg)
c.2578G>C (p.Gly860Arg)
c.2437G>C (p.Gly813Arg)
c.2398G>C (p.Gly800Arg)
c.2257G>C (p.Gly753Arg)
12g.109784349C>TCA6779931TRPV4c.2425G>A (p.Gly809Ser)
c.*1512G>A (n.*1512G>A)
c.2323G>A (p.Gly775Ser)
c.2245G>A (p.Gly749Ser)
c.*808G>A (n.*808G>A)
c.2284G>A (p.Gly762Ser)
c.2104G>A (p.Gly702Ser)
c.2578G>A (p.Gly860Ser)
c.2437G>A (p.Gly813Ser)
c.2398G>A (p.Gly800Ser)
c.2257G>A (p.Gly753Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784350A=CA2062557918TRPV4c.2424T= (p.Tyr808=)
c.*1511T= (n.*1511T=)
c.2322T= (p.Tyr774=)
c.2244T= (p.Tyr748=)
c.*807T= (n.*807T=)
c.2283T= (p.Tyr761=)
c.2103T= (p.Tyr701=)
c.2577T= (p.Tyr859=)
c.2436T= (p.Tyr812=)
c.2397T= (p.Tyr799=)
c.2256T= (p.Tyr752=)
12g.109784350A>CCA386648747TRPV4c.2424T>G (p.Tyr808Ter)
c.*1511T>G (n.*1511T>G)
c.2322T>G (p.Tyr774Ter)
c.2244T>G (p.Tyr748Ter)
c.*807T>G (n.*807T>G)
c.2283T>G (p.Tyr761Ter)
c.2103T>G (p.Tyr701Ter)
c.2577T>G (p.Tyr859Ter)
c.2436T>G (p.Tyr812Ter)
c.2397T>G (p.Tyr799Ter)
c.2256T>G (p.Tyr752Ter)
12g.109784350A>GCA481724004TRPV4c.2424T>C (p.Tyr808=)
c.*1511T>C (n.*1511T>C)
c.2322T>C (p.Tyr774=)
c.2244T>C (p.Tyr748=)
c.*807T>C (n.*807T>C)
c.2283T>C (p.Tyr761=)
c.2103T>C (p.Tyr701=)
c.2577T>C (p.Tyr859=)
c.2436T>C (p.Tyr812=)
c.2397T>C (p.Tyr799=)
c.2256T>C (p.Tyr752=)
dbSNP gnomAD v3 gnomAD v4
12g.109784350A>TCA386648748TRPV4c.2424T>A (p.Tyr808Ter)
c.*1511T>A (n.*1511T>A)
c.2322T>A (p.Tyr774Ter)
c.2244T>A (p.Tyr748Ter)
c.*807T>A (n.*807T>A)
c.2283T>A (p.Tyr761Ter)
c.2103T>A (p.Tyr701Ter)
c.2577T>A (p.Tyr859Ter)
c.2436T>A (p.Tyr812Ter)
c.2397T>A (p.Tyr799Ter)
c.2256T>A (p.Tyr752Ter)
12g.109784351T>ACA386648751TRPV4c.2423A>T (p.Tyr808Phe)
c.*1510A>T (n.*1510A>T)
c.2321A>T (p.Tyr774Phe)
c.2243A>T (p.Tyr748Phe)
c.*806A>T (n.*806A>T)
c.2282A>T (p.Tyr761Phe)
c.2102A>T (p.Tyr701Phe)
c.2576A>T (p.Tyr859Phe)
c.2435A>T (p.Tyr812Phe)
c.2396A>T (p.Tyr799Phe)
c.2255A>T (p.Tyr752Phe)
12g.109784351T>CCA386648749TRPV4c.2423A>G (p.Tyr808Cys)
c.*1510A>G (n.*1510A>G)
c.2321A>G (p.Tyr774Cys)
c.2243A>G (p.Tyr748Cys)
c.*806A>G (n.*806A>G)
c.2282A>G (p.Tyr761Cys)
c.2102A>G (p.Tyr701Cys)
c.2576A>G (p.Tyr859Cys)
c.2435A>G (p.Tyr812Cys)
c.2396A>G (p.Tyr799Cys)
c.2255A>G (p.Tyr752Cys)
12g.109784351T>GCA386648750TRPV4c.2423A>C (p.Tyr808Ser)
c.*1510A>C (n.*1510A>C)
c.2321A>C (p.Tyr774Ser)
c.2243A>C (p.Tyr748Ser)
c.*806A>C (n.*806A>C)
c.2282A>C (p.Tyr761Ser)
c.2102A>C (p.Tyr701Ser)
c.2576A>C (p.Tyr859Ser)
c.2435A>C (p.Tyr812Ser)
c.2396A>C (p.Tyr799Ser)
c.2255A>C (p.Tyr752Ser)
12g.109784352A>CCA386648752TRPV4c.2422T>G (p.Tyr808Asp)
c.*1509T>G (n.*1509T>G)
c.2320T>G (p.Tyr774Asp)
c.2242T>G (p.Tyr748Asp)
c.*805T>G (n.*805T>G)
c.2281T>G (p.Tyr761Asp)
c.2101T>G (p.Tyr701Asp)
c.2575T>G (p.Tyr859Asp)
c.2434T>G (p.Tyr812Asp)
c.2395T>G (p.Tyr799Asp)
c.2254T>G (p.Tyr752Asp)
12g.109784352A>GCA386648753TRPV4c.2422T>C (p.Tyr808His)
c.*1509T>C (n.*1509T>C)
c.2320T>C (p.Tyr774His)
c.2242T>C (p.Tyr748His)
c.*805T>C (n.*805T>C)
c.2281T>C (p.Tyr761His)
c.2101T>C (p.Tyr701His)
c.2575T>C (p.Tyr859His)
c.2434T>C (p.Tyr812His)
c.2395T>C (p.Tyr799His)
c.2254T>C (p.Tyr752His)
12g.109784352A>TCA386648754TRPV4c.2422T>A (p.Tyr808Asn)
c.*1509T>A (n.*1509T>A)
c.2320T>A (p.Tyr774Asn)
c.2242T>A (p.Tyr748Asn)
c.*805T>A (n.*805T>A)
c.2281T>A (p.Tyr761Asn)
c.2101T>A (p.Tyr701Asn)
c.2575T>A (p.Tyr859Asn)
c.2434T>A (p.Tyr812Asn)
c.2395T>A (p.Tyr799Asn)
c.2254T>A (p.Tyr752Asn)
12g.109784353A>CCA386648755TRPV4c.2421T>G (p.Tyr807Ter)
c.*1508T>G (n.*1508T>G)
c.2319T>G (p.Tyr773Ter)
c.2241T>G (p.Tyr747Ter)
c.*804T>G (n.*804T>G)
c.2280T>G (p.Tyr760Ter)
c.2100T>G (p.Tyr700Ter)
c.2574T>G (p.Tyr858Ter)
c.2433T>G (p.Tyr811Ter)
c.2394T>G (p.Tyr798Ter)
c.2253T>G (p.Tyr751Ter)
ClinVar dbSNP
12g.109784353A>GCA481724005TRPV4c.2421T>C (p.Tyr807=)
c.*1508T>C (n.*1508T>C)
c.2319T>C (p.Tyr773=)
c.2241T>C (p.Tyr747=)
c.*804T>C (n.*804T>C)
c.2280T>C (p.Tyr760=)
c.2100T>C (p.Tyr700=)
c.2574T>C (p.Tyr858=)
c.2433T>C (p.Tyr811=)
c.2394T>C (p.Tyr798=)
c.2253T>C (p.Tyr751=)
ClinVar dbSNP
12g.109784353A>TCA386648756TRPV4c.2421T>A (p.Tyr807Ter)
c.*1508T>A (n.*1508T>A)
c.2319T>A (p.Tyr773Ter)
c.2241T>A (p.Tyr747Ter)
c.*804T>A (n.*804T>A)
c.2280T>A (p.Tyr760Ter)
c.2100T>A (p.Tyr700Ter)
c.2574T>A (p.Tyr858Ter)
c.2433T>A (p.Tyr811Ter)
c.2394T>A (p.Tyr798Ter)
c.2253T>A (p.Tyr751Ter)
12g.109784354T>ACA386648759TRPV4c.2420A>T (p.Tyr807Phe)
c.*1507A>T (n.*1507A>T)
c.2318A>T (p.Tyr773Phe)
c.2240A>T (p.Tyr747Phe)
c.*803A>T (n.*803A>T)
c.2279A>T (p.Tyr760Phe)
c.2099A>T (p.Tyr700Phe)
c.2573A>T (p.Tyr858Phe)
c.2432A>T (p.Tyr811Phe)
c.2393A>T (p.Tyr798Phe)
c.2252A>T (p.Tyr751Phe)
12g.109784354T>CCA386648757TRPV4c.2420A>G (p.Tyr807Cys)
c.*1507A>G (n.*1507A>G)
c.2318A>G (p.Tyr773Cys)
c.2240A>G (p.Tyr747Cys)
c.*803A>G (n.*803A>G)
c.2279A>G (p.Tyr760Cys)
c.2099A>G (p.Tyr700Cys)
c.2573A>G (p.Tyr858Cys)
c.2432A>G (p.Tyr811Cys)
c.2393A>G (p.Tyr798Cys)
c.2252A>G (p.Tyr751Cys)
12g.109784354T>GCA386648758TRPV4c.2420A>C (p.Tyr807Ser)
c.*1507A>C (n.*1507A>C)
c.2318A>C (p.Tyr773Ser)
c.2240A>C (p.Tyr747Ser)
c.*803A>C (n.*803A>C)
c.2279A>C (p.Tyr760Ser)
c.2099A>C (p.Tyr700Ser)
c.2573A>C (p.Tyr858Ser)
c.2432A>C (p.Tyr811Ser)
c.2393A>C (p.Tyr798Ser)
c.2252A>C (p.Tyr751Ser)
12g.109784354dupCA2620826191TRPV4c.2420dup (p.Tyr807Ter)
c.*1507dup (n.*1507dup)
c.2318dup (p.Tyr773Ter)
c.2240dup (p.Tyr747Ter)
c.*803dup (n.*803dup)
c.2279dup (p.Tyr760Ter)
c.2099dup (p.Tyr700Ter)
c.2573dup (p.Tyr858Ter)
c.2432dup (p.Tyr811Ter)
c.2393dup (p.Tyr798Ter)
c.2252dup (p.Tyr751Ter)
gnomAD v4
12g.109784355A>CCA386648760TRPV4c.2419T>G (p.Tyr807Asp)
c.*1506T>G (n.*1506T>G)
c.2317T>G (p.Tyr773Asp)
c.2239T>G (p.Tyr747Asp)
c.*802T>G (n.*802T>G)
c.2278T>G (p.Tyr760Asp)
c.2098T>G (p.Tyr700Asp)
c.2572T>G (p.Tyr858Asp)
c.2431T>G (p.Tyr811Asp)
c.2392T>G (p.Tyr798Asp)
c.2251T>G (p.Tyr751Asp)
12g.109784355A>GCA386648761TRPV4c.2419T>C (p.Tyr807His)
c.*1506T>C (n.*1506T>C)
c.2317T>C (p.Tyr773His)
c.2239T>C (p.Tyr747His)
c.*802T>C (n.*802T>C)
c.2278T>C (p.Tyr760His)
c.2098T>C (p.Tyr700His)
c.2572T>C (p.Tyr858His)
c.2431T>C (p.Tyr811His)
c.2392T>C (p.Tyr798His)
c.2251T>C (p.Tyr751His)
12g.109784355A>TCA386648762TRPV4c.2419T>A (p.Tyr807Asn)
c.*1506T>A (n.*1506T>A)
c.2317T>A (p.Tyr773Asn)
c.2239T>A (p.Tyr747Asn)
c.*802T>A (n.*802T>A)
c.2278T>A (p.Tyr760Asn)
c.2098T>A (p.Tyr700Asn)
c.2572T>A (p.Tyr858Asn)
c.2431T>A (p.Tyr811Asn)
c.2392T>A (p.Tyr798Asn)
c.2251T>A (p.Tyr751Asn)
12g.109784356C>ACA386648763TRPV4c.2418G>T (p.Gln806His)
c.*1505G>T (n.*1505G>T)
c.2316G>T (p.Gln772His)
c.2238G>T (p.Gln746His)
c.*801G>T (n.*801G>T)
c.2277G>T (p.Gln759His)
c.2097G>T (p.Gln699His)
c.2571G>T (p.Gln857His)
c.2430G>T (p.Gln810His)
c.2391G>T (p.Gln797His)
c.2250G>T (p.Gln750His)
12g.109784356C=CA2062557919TRPV4c.2418G= (p.Gln806=)
c.*1505G= (n.*1505G=)
c.2316G= (p.Gln772=)
c.2238G= (p.Gln746=)
c.*801G= (n.*801G=)
c.2277G= (p.Gln759=)
c.2097G= (p.Gln699=)
c.2571G= (p.Gln857=)
c.2430G= (p.Gln810=)
c.2391G= (p.Gln797=)
c.2250G= (p.Gln750=)
12g.109784356C>GCA386648764TRPV4c.2418G>C (p.Gln806His)
c.*1505G>C (n.*1505G>C)
c.2316G>C (p.Gln772His)
c.2238G>C (p.Gln746His)
c.*801G>C (n.*801G>C)
c.2277G>C (p.Gln759His)
c.2097G>C (p.Gln699His)
c.2571G>C (p.Gln857His)
c.2430G>C (p.Gln810His)
c.2391G>C (p.Gln797His)
c.2250G>C (p.Gln750His)
12g.109784356C>TCA481724008TRPV4c.2418G>A (p.Gln806=)
c.*1505G>A (n.*1505G>A)
c.2316G>A (p.Gln772=)
c.2238G>A (p.Gln746=)
c.*801G>A (n.*801G>A)
c.2277G>A (p.Gln759=)
c.2097G>A (p.Gln699=)
c.2571G>A (p.Gln857=)
c.2430G>A (p.Gln810=)
c.2391G>A (p.Gln797=)
c.2250G>A (p.Gln750=)
ClinVar dbSNP gnomAD v4
12g.109784357T>ACA386648765TRPV4c.2417A>T (p.Gln806Leu)
c.*1504A>T (n.*1504A>T)
c.2315A>T (p.Gln772Leu)
c.2237A>T (p.Gln746Leu)
c.*800A>T (n.*800A>T)
c.2276A>T (p.Gln759Leu)
c.2096A>T (p.Gln699Leu)
c.2570A>T (p.Gln857Leu)
c.2429A>T (p.Gln810Leu)
c.2390A>T (p.Gln797Leu)
c.2249A>T (p.Gln750Leu)
12g.109784357T>CCA386648766TRPV4c.2417A>G (p.Gln806Arg)
c.*1504A>G (n.*1504A>G)
c.2315A>G (p.Gln772Arg)
c.2237A>G (p.Gln746Arg)
c.*800A>G (n.*800A>G)
c.2276A>G (p.Gln759Arg)
c.2096A>G (p.Gln699Arg)
c.2570A>G (p.Gln857Arg)
c.2429A>G (p.Gln810Arg)
c.2390A>G (p.Gln797Arg)
c.2249A>G (p.Gln750Arg)
gnomAD v4
12g.109784357T>GCA386648767TRPV4c.2417A>C (p.Gln806Pro)
c.*1504A>C (n.*1504A>C)
c.2315A>C (p.Gln772Pro)
c.2237A>C (p.Gln746Pro)
c.*800A>C (n.*800A>C)
c.2276A>C (p.Gln759Pro)
c.2096A>C (p.Gln699Pro)
c.2570A>C (p.Gln857Pro)
c.2429A>C (p.Gln810Pro)
c.2390A>C (p.Gln797Pro)
c.2249A>C (p.Gln750Pro)
12g.109784358G>ACA386648768TRPV4c.2416C>T (p.Gln806Ter)
c.*1503C>T (n.*1503C>T)
c.2314C>T (p.Gln772Ter)
c.2236C>T (p.Gln746Ter)
c.*799C>T (n.*799C>T)
c.2275C>T (p.Gln759Ter)
c.2095C>T (p.Gln699Ter)
c.2569C>T (p.Gln857Ter)
c.2428C>T (p.Gln810Ter)
c.2389C>T (p.Gln797Ter)
c.2248C>T (p.Gln750Ter)
12g.109784358G>CCA386648769TRPV4c.2416C>G (p.Gln806Glu)
c.*1503C>G (n.*1503C>G)
c.2314C>G (p.Gln772Glu)
c.2236C>G (p.Gln746Glu)
c.*799C>G (n.*799C>G)
c.2275C>G (p.Gln759Glu)
c.2095C>G (p.Gln699Glu)
c.2569C>G (p.Gln857Glu)
c.2428C>G (p.Gln810Glu)
c.2389C>G (p.Gln797Glu)
c.2248C>G (p.Gln750Glu)
12g.109784358G>TCA386648770TRPV4c.2416C>A (p.Gln806Lys)
c.*1503C>A (n.*1503C>A)
c.2314C>A (p.Gln772Lys)
c.2236C>A (p.Gln746Lys)
c.*799C>A (n.*799C>A)
c.2275C>A (p.Gln759Lys)
c.2095C>A (p.Gln699Lys)
c.2569C>A (p.Gln857Lys)
c.2428C>A (p.Gln810Lys)
c.2389C>A (p.Gln797Lys)
c.2248C>A (p.Gln750Lys)
12g.109784359G>ACA481724012TRPV4c.2415C>T (p.Tyr805=)
c.*1502C>T (n.*1502C>T)
c.2313C>T (p.Tyr771=)
c.2235C>T (p.Tyr745=)
c.*798C>T (n.*798C>T)
c.2274C>T (p.Tyr758=)
c.2094C>T (p.Tyr698=)
c.2568C>T (p.Tyr856=)
c.2427C>T (p.Tyr809=)
c.2388C>T (p.Tyr796=)
c.2247C>T (p.Tyr749=)
dbSNP
12g.109784359G>CCA386648771TRPV4c.2415C>G (p.Tyr805Ter)
c.*1502C>G (n.*1502C>G)
c.2313C>G (p.Tyr771Ter)
c.2235C>G (p.Tyr745Ter)
c.*798C>G (n.*798C>G)
c.2274C>G (p.Tyr758Ter)
c.2094C>G (p.Tyr698Ter)
c.2568C>G (p.Tyr856Ter)
c.2427C>G (p.Tyr809Ter)
c.2388C>G (p.Tyr796Ter)
c.2247C>G (p.Tyr749Ter)
12g.109784359G=CA2062557921TRPV4c.2415C= (p.Tyr805=)
c.*1502C= (n.*1502C=)
c.2313C= (p.Tyr771=)
c.2235C= (p.Tyr745=)
c.*798C= (n.*798C=)
c.2274C= (p.Tyr758=)
c.2094C= (p.Tyr698=)
c.2568C= (p.Tyr856=)
c.2427C= (p.Tyr809=)
c.2388C= (p.Tyr796=)
c.2247C= (p.Tyr749=)
12g.109784359G>TCA386648772TRPV4c.2415C>A (p.Tyr805Ter)
c.*1502C>A (n.*1502C>A)
c.2313C>A (p.Tyr771Ter)
c.2235C>A (p.Tyr745Ter)
c.*798C>A (n.*798C>A)
c.2274C>A (p.Tyr758Ter)
c.2094C>A (p.Tyr698Ter)
c.2568C>A (p.Tyr856Ter)
c.2427C>A (p.Tyr809Ter)
c.2388C>A (p.Tyr796Ter)
c.2247C>A (p.Tyr749Ter)
12g.109784360T>ACA386648773TRPV4c.2414A>T (p.Tyr805Phe)
c.*1501A>T (n.*1501A>T)
c.2312A>T (p.Tyr771Phe)
c.2234A>T (p.Tyr745Phe)
c.*797A>T (n.*797A>T)
c.2273A>T (p.Tyr758Phe)
c.2093A>T (p.Tyr698Phe)
c.2567A>T (p.Tyr856Phe)
c.2426A>T (p.Tyr809Phe)
c.2387A>T (p.Tyr796Phe)
c.2246A>T (p.Tyr749Phe)
12g.109784360T>CCA386648775TRPV4c.2414A>G (p.Tyr805Cys)
c.*1501A>G (n.*1501A>G)
c.2312A>G (p.Tyr771Cys)
c.2234A>G (p.Tyr745Cys)
c.*797A>G (n.*797A>G)
c.2273A>G (p.Tyr758Cys)
c.2093A>G (p.Tyr698Cys)
c.2567A>G (p.Tyr856Cys)
c.2426A>G (p.Tyr809Cys)
c.2387A>G (p.Tyr796Cys)
c.2246A>G (p.Tyr749Cys)
12g.109784360T>GCA386648774TRPV4c.2414A>C (p.Tyr805Ser)
c.*1501A>C (n.*1501A>C)
c.2312A>C (p.Tyr771Ser)
c.2234A>C (p.Tyr745Ser)
c.*797A>C (n.*797A>C)
c.2273A>C (p.Tyr758Ser)
c.2093A>C (p.Tyr698Ser)
c.2567A>C (p.Tyr856Ser)
c.2426A>C (p.Tyr809Ser)
c.2387A>C (p.Tyr796Ser)
c.2246A>C (p.Tyr749Ser)
12g.109784361A>CCA386648776TRPV4c.2413T>G (p.Tyr805Asp)
c.*1500T>G (n.*1500T>G)
c.2311T>G (p.Tyr771Asp)
c.2233T>G (p.Tyr745Asp)
c.*796T>G (n.*796T>G)
c.2272T>G (p.Tyr758Asp)
c.2092T>G (p.Tyr698Asp)
c.2566T>G (p.Tyr856Asp)
c.2425T>G (p.Tyr809Asp)
c.2386T>G (p.Tyr796Asp)
c.2245T>G (p.Tyr749Asp)
12g.109784361A>GCA386648777TRPV4c.2413T>C (p.Tyr805His)
c.*1500T>C (n.*1500T>C)
c.2311T>C (p.Tyr771His)
c.2233T>C (p.Tyr745His)
c.*796T>C (n.*796T>C)
c.2272T>C (p.Tyr758His)
c.2092T>C (p.Tyr698His)
c.2566T>C (p.Tyr856His)
c.2425T>C (p.Tyr809His)
c.2386T>C (p.Tyr796His)
c.2245T>C (p.Tyr749His)
12g.109784361A>TCA386648778TRPV4c.2413T>A (p.Tyr805Asn)
c.*1500T>A (n.*1500T>A)
c.2311T>A (p.Tyr771Asn)
c.2233T>A (p.Tyr745Asn)
c.*796T>A (n.*796T>A)
c.2272T>A (p.Tyr758Asn)
c.2092T>A (p.Tyr698Asn)
c.2566T>A (p.Tyr856Asn)
c.2425T>A (p.Tyr809Asn)
c.2386T>A (p.Tyr796Asn)
c.2245T>A (p.Tyr749Asn)
12g.109784361_109784378delinsAGGTCTCATTCTTGCCCGCA2062557922TRPV4c.2396_2413delinsCGGGCAAGAATGAGACCT (p.Pro799=)
c.*1483_*1500delinsCGGGCAAGAATGAGACCT (n.*1483_*1500delinsCGGGCAAGAATGAGACCT)
c.2294_2311delinsCGGGCAAGAATGAGACCT (p.Pro765=)
c.2216_2233delinsCGGGCAAGAATGAGACCT (p.Pro739=)
c.*779_*796delinsCGGGCAAGAATGAGACCT (n.*779_*796delinsCGGGCAAGAATGAGACCT)
c.2255_2272delinsCGGGCAAGAATGAGACCT (p.Pro752=)
c.2075_2092delinsCGGGCAAGAATGAGACCT (p.Pro692=)
c.2549_2566delinsCGGGCAAGAATGAGACCT (p.Pro850=)
c.2408_2425delinsCGGGCAAGAATGAGACCT (p.Pro803=)
c.2369_2386delinsCGGGCAAGAATGAGACCT (p.Pro790=)
c.2228_2245delinsCGGGCAAGAATGAGACCT (p.Pro743=)
12g.109784362G>ACA481724014TRPV4c.2412C>T (p.Thr804=)
c.*1499C>T (n.*1499C>T)
c.2310C>T (p.Thr770=)
c.2232C>T (p.Thr744=)
c.*795C>T (n.*795C>T)
c.2271C>T (p.Thr757=)
c.2091C>T (p.Thr697=)
c.2565C>T (p.Thr855=)
c.2424C>T (p.Thr808=)
c.2385C>T (p.Thr795=)
c.2244C>T (p.Thr748=)
12g.109784362G>CCA481724016TRPV4c.2412C>G (p.Thr804=)
c.*1499C>G (n.*1499C>G)
c.2310C>G (p.Thr770=)
c.2232C>G (p.Thr744=)
c.*795C>G (n.*795C>G)
c.2271C>G (p.Thr757=)
c.2091C>G (p.Thr697=)
c.2565C>G (p.Thr855=)
c.2424C>G (p.Thr808=)
c.2385C>G (p.Thr795=)
c.2244C>G (p.Thr748=)
dbSNP
12g.109784362G=CA2062557924TRPV4c.2412C= (p.Thr804=)
c.*1499C= (n.*1499C=)
c.2310C= (p.Thr770=)
c.2232C= (p.Thr744=)
c.*795C= (n.*795C=)
c.2271C= (p.Thr757=)
c.2091C= (p.Thr697=)
c.2565C= (p.Thr855=)
c.2424C= (p.Thr808=)
c.2385C= (p.Thr795=)
c.2244C= (p.Thr748=)
12g.109784362G>TCA481724017TRPV4c.2412C>A (p.Thr804=)
c.*1499C>A (n.*1499C>A)
c.2310C>A (p.Thr770=)
c.2232C>A (p.Thr744=)
c.*795C>A (n.*795C>A)
c.2271C>A (p.Thr757=)
c.2091C>A (p.Thr697=)
c.2565C>A (p.Thr855=)
c.2424C>A (p.Thr808=)
c.2385C>A (p.Thr795=)
c.2244C>A (p.Thr748=)
12g.109784366_109784382delCA347737TRPV4c.2396_2412del (p.Pro799LeufsTer?)
c.*1483_*1499del (n.*1483_*1499del)
c.2294_2310del (p.Pro765LeufsTer?)
c.2216_2232del (p.Pro739LeufsTer?)
c.*779_*795del (n.*779_*795del)
c.2255_2271del (p.Pro752LeufsTer?)
c.2075_2091del (p.Pro692LeufsTer?)
c.2549_2565del (p.Pro850LeufsTer?)
c.2408_2424del (p.Pro803LeufsTer?)
c.2369_2385del (p.Pro790LeufsTer?)
c.2228_2244del (p.Pro743LeufsTer?)
ClinVar dbSNP
12g.109784363G>ACA386648779TRPV4c.2411C>T (p.Thr804Ile)
c.*1498C>T (n.*1498C>T)
c.2309C>T (p.Thr770Ile)
c.2231C>T (p.Thr744Ile)
c.*794C>T (n.*794C>T)
c.2270C>T (p.Thr757Ile)
c.2090C>T (p.Thr697Ile)
c.2564C>T (p.Thr855Ile)
c.2423C>T (p.Thr808Ile)
c.2384C>T (p.Thr795Ile)
c.2243C>T (p.Thr748Ile)
12g.109784363G>CCA386648780TRPV4c.2411C>G (p.Thr804Ser)
c.*1498C>G (n.*1498C>G)
c.2309C>G (p.Thr770Ser)
c.2231C>G (p.Thr744Ser)
c.*794C>G (n.*794C>G)
c.2270C>G (p.Thr757Ser)
c.2090C>G (p.Thr697Ser)
c.2564C>G (p.Thr855Ser)
c.2423C>G (p.Thr808Ser)
c.2384C>G (p.Thr795Ser)
c.2243C>G (p.Thr748Ser)
12g.109784363G>TCA386648781TRPV4c.2411C>A (p.Thr804Asn)
c.*1498C>A (n.*1498C>A)
c.2309C>A (p.Thr770Asn)
c.2231C>A (p.Thr744Asn)
c.*794C>A (n.*794C>A)
c.2270C>A (p.Thr757Asn)
c.2090C>A (p.Thr697Asn)
c.2564C>A (p.Thr855Asn)
c.2423C>A (p.Thr808Asn)
c.2384C>A (p.Thr795Asn)
c.2243C>A (p.Thr748Asn)
dbSNP
12g.109784364T>ACA386648782TRPV4c.2410A>T (p.Thr804Ser)
c.*1497A>T (n.*1497A>T)
c.2308A>T (p.Thr770Ser)
c.2230A>T (p.Thr744Ser)
c.*793A>T (n.*793A>T)
c.2269A>T (p.Thr757Ser)
c.2089A>T (p.Thr697Ser)
c.2563A>T (p.Thr855Ser)
c.2422A>T (p.Thr808Ser)
c.2383A>T (p.Thr795Ser)
c.2242A>T (p.Thr748Ser)
12g.109784364T>CCA386648783TRPV4c.2410A>G (p.Thr804Ala)
c.*1497A>G (n.*1497A>G)
c.2308A>G (p.Thr770Ala)
c.2230A>G (p.Thr744Ala)
c.*793A>G (n.*793A>G)
c.2269A>G (p.Thr757Ala)
c.2089A>G (p.Thr697Ala)
c.2563A>G (p.Thr855Ala)
c.2422A>G (p.Thr808Ala)
c.2383A>G (p.Thr795Ala)
c.2242A>G (p.Thr748Ala)
12g.109784364T>GCA6779932TRPV4c.2410A>C (p.Thr804Pro)
c.*1497A>C (n.*1497A>C)
c.2308A>C (p.Thr770Pro)
c.2230A>C (p.Thr744Pro)
c.*793A>C (n.*793A>C)
c.2269A>C (p.Thr757Pro)
c.2089A>C (p.Thr697Pro)
c.2563A>C (p.Thr855Pro)
c.2422A>C (p.Thr808Pro)
c.2383A>C (p.Thr795Pro)
c.2242A>C (p.Thr748Pro)
dbSNP ExAC gnomAD v2
12g.109784364T=CA2062557926TRPV4c.2410A= (p.Thr804=)
c.*1497A= (n.*1497A=)
c.2308A= (p.Thr770=)
c.2230A= (p.Thr744=)
c.*793A= (n.*793A=)
c.2269A= (p.Thr757=)
c.2089A= (p.Thr697=)
c.2563A= (p.Thr855=)
c.2422A= (p.Thr808=)
c.2383A= (p.Thr795=)
c.2242A= (p.Thr748=)
12g.109784365C>ACA386648784TRPV4c.2409G>T (p.Glu803Asp)
c.*1496G>T (n.*1496G>T)
c.2307G>T (p.Glu769Asp)
c.2229G>T (p.Glu743Asp)
c.*792G>T (n.*792G>T)
c.2268G>T (p.Glu756Asp)
c.2088G>T (p.Glu696Asp)
c.2562G>T (p.Glu854Asp)
c.2421G>T (p.Glu807Asp)
c.2382G>T (p.Glu794Asp)
c.2241G>T (p.Glu747Asp)
12g.109784365C=CA2062557928TRPV4c.2409G= (p.Glu803=)
c.*1496G= (n.*1496G=)
c.2307G= (p.Glu769=)
c.2229G= (p.Glu743=)
c.*792G= (n.*792G=)
c.2268G= (p.Glu756=)
c.2088G= (p.Glu696=)
c.2562G= (p.Glu854=)
c.2421G= (p.Glu807=)
c.2382G= (p.Glu794=)
c.2241G= (p.Glu747=)
12g.109784365C>GCA6779933TRPV4c.2409G>C (p.Glu803Asp)
c.*1496G>C (n.*1496G>C)
c.2307G>C (p.Glu769Asp)
c.2229G>C (p.Glu743Asp)
c.*792G>C (n.*792G>C)
c.2268G>C (p.Glu756Asp)
c.2088G>C (p.Glu696Asp)
c.2562G>C (p.Glu854Asp)
c.2421G>C (p.Glu807Asp)
c.2382G>C (p.Glu794Asp)
c.2241G>C (p.Glu747Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.109784365C>TCA481724019TRPV4c.2409G>A (p.Glu803=)
c.*1496G>A (n.*1496G>A)
c.2307G>A (p.Glu769=)
c.2229G>A (p.Glu743=)
c.*792G>A (n.*792G>A)
c.2268G>A (p.Glu756=)
c.2088G>A (p.Glu696=)
c.2562G>A (p.Glu854=)
c.2421G>A (p.Glu807=)
c.2382G>A (p.Glu794=)
c.2241G>A (p.Glu747=)
12g.109784366T>ACA386648786TRPV4c.2408A>T (p.Glu803Val)
c.*1495A>T (n.*1495A>T)
c.2306A>T (p.Glu769Val)
c.2228A>T (p.Glu743Val)
c.*791A>T (n.*791A>T)
c.2267A>T (p.Glu756Val)
c.2087A>T (p.Glu696Val)
c.2561A>T (p.Glu854Val)
c.2420A>T (p.Glu807Val)
c.2381A>T (p.Glu794Val)
c.2240A>T (p.Glu747Val)
12g.109784366T>CCA386648787TRPV4c.2408A>G (p.Glu803Gly)
c.*1495A>G (n.*1495A>G)
c.2306A>G (p.Glu769Gly)
c.2228A>G (p.Glu743Gly)
c.*791A>G (n.*791A>G)
c.2267A>G (p.Glu756Gly)
c.2087A>G (p.Glu696Gly)
c.2561A>G (p.Glu854Gly)
c.2420A>G (p.Glu807Gly)
c.2381A>G (p.Glu794Gly)
c.2240A>G (p.Glu747Gly)
12g.109784366T>GCA386648785TRPV4c.2408A>C (p.Glu803Ala)
c.*1495A>C (n.*1495A>C)
c.2306A>C (p.Glu769Ala)
c.2228A>C (p.Glu743Ala)
c.*791A>C (n.*791A>C)
c.2267A>C (p.Glu756Ala)
c.2087A>C (p.Glu696Ala)
c.2561A>C (p.Glu854Ala)
c.2420A>C (p.Glu807Ala)
c.2381A>C (p.Glu794Ala)
c.2240A>C (p.Glu747Ala)
12g.109784367C>ACA386648788TRPV4c.2407G>T (p.Glu803Ter)
c.*1494G>T (n.*1494G>T)
c.2305G>T (p.Glu769Ter)
c.2227G>T (p.Glu743Ter)
c.*790G>T (n.*790G>T)
c.2266G>T (p.Glu756Ter)
c.2086G>T (p.Glu696Ter)
c.2560G>T (p.Glu854Ter)
c.2419G>T (p.Glu807Ter)
c.2380G>T (p.Glu794Ter)
c.2239G>T (p.Glu747Ter)
12g.109784367C>GCA386648789TRPV4c.2407G>C (p.Glu803Gln)
c.*1494G>C (n.*1494G>C)
c.2305G>C (p.Glu769Gln)
c.2227G>C (p.Glu743Gln)
c.*790G>C (n.*790G>C)
c.2266G>C (p.Glu756Gln)
c.2086G>C (p.Glu696Gln)
c.2560G>C (p.Glu854Gln)
c.2419G>C (p.Glu807Gln)
c.2380G>C (p.Glu794Gln)
c.2239G>C (p.Glu747Gln)
12g.109784367C>TCA386648790TRPV4c.2407G>A (p.Glu803Lys)
c.*1494G>A (n.*1494G>A)
c.2305G>A (p.Glu769Lys)
c.2227G>A (p.Glu743Lys)
c.*790G>A (n.*790G>A)
c.2266G>A (p.Glu756Lys)
c.2086G>A (p.Glu696Lys)
c.2560G>A (p.Glu854Lys)
c.2419G>A (p.Glu807Lys)
c.2380G>A (p.Glu794Lys)
c.2239G>A (p.Glu747Lys)
gnomAD v4 COSMIC
12g.109784368A=CA2062557930TRPV4c.2406T= (p.Asn802=)
c.*1493T= (n.*1493T=)
c.2304T= (p.Asn768=)
c.2226T= (p.Asn742=)
c.*789T= (n.*789T=)
c.2265T= (p.Asn755=)
c.2085T= (p.Asn695=)
c.2559T= (p.Asn853=)
c.2418T= (p.Asn806=)
c.2379T= (p.Asn793=)
c.2238T= (p.Asn746=)
12g.109784368A>CCA6779934TRPV4c.2406T>G (p.Asn802Lys)
c.*1493T>G (n.*1493T>G)
c.2304T>G (p.Asn768Lys)
c.2226T>G (p.Asn742Lys)
c.*789T>G (n.*789T>G)
c.2265T>G (p.Asn755Lys)
c.2085T>G (p.Asn695Lys)
c.2559T>G (p.Asn853Lys)
c.2418T>G (p.Asn806Lys)
c.2379T>G (p.Asn793Lys)
c.2238T>G (p.Asn746Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784368A>GCA481724024TRPV4c.2406T>C (p.Asn802=)
c.*1493T>C (n.*1493T>C)
c.2304T>C (p.Asn768=)
c.2226T>C (p.Asn742=)
c.*789T>C (n.*789T>C)
c.2265T>C (p.Asn755=)
c.2085T>C (p.Asn695=)
c.2559T>C (p.Asn853=)
c.2418T>C (p.Asn806=)
c.2379T>C (p.Asn793=)
c.2238T>C (p.Asn746=)
12g.109784368A>TCA386648791TRPV4c.2406T>A (p.Asn802Lys)
c.*1493T>A (n.*1493T>A)
c.2304T>A (p.Asn768Lys)
c.2226T>A (p.Asn742Lys)
c.*789T>A (n.*789T>A)
c.2265T>A (p.Asn755Lys)
c.2085T>A (p.Asn695Lys)
c.2559T>A (p.Asn853Lys)
c.2418T>A (p.Asn806Lys)
c.2379T>A (p.Asn793Lys)
c.2238T>A (p.Asn746Lys)
12g.109784369T>ACA386648794TRPV4c.2405A>T (p.Asn802Ile)
c.*1492A>T (n.*1492A>T)
c.2303A>T (p.Asn768Ile)
c.2225A>T (p.Asn742Ile)
c.*788A>T (n.*788A>T)
c.2264A>T (p.Asn755Ile)
c.2084A>T (p.Asn695Ile)
c.2558A>T (p.Asn853Ile)
c.2417A>T (p.Asn806Ile)
c.2378A>T (p.Asn793Ile)
c.2237A>T (p.Asn746Ile)
12g.109784369T>CCA386648792TRPV4c.2405A>G (p.Asn802Ser)
c.*1492A>G (n.*1492A>G)
c.2303A>G (p.Asn768Ser)
c.2225A>G (p.Asn742Ser)
c.*788A>G (n.*788A>G)
c.2264A>G (p.Asn755Ser)
c.2084A>G (p.Asn695Ser)
c.2558A>G (p.Asn853Ser)
c.2417A>G (p.Asn806Ser)
c.2378A>G (p.Asn793Ser)
c.2237A>G (p.Asn746Ser)
12g.109784369T>GCA386648793TRPV4c.2405A>C (p.Asn802Thr)
c.*1492A>C (n.*1492A>C)
c.2303A>C (p.Asn768Thr)
c.2225A>C (p.Asn742Thr)
c.*788A>C (n.*788A>C)
c.2264A>C (p.Asn755Thr)
c.2084A>C (p.Asn695Thr)
c.2558A>C (p.Asn853Thr)
c.2417A>C (p.Asn806Thr)
c.2378A>C (p.Asn793Thr)
c.2237A>C (p.Asn746Thr)
12g.109784370T>ACA386648795TRPV4c.2404A>T (p.Asn802Tyr)
c.*1491A>T (n.*1491A>T)
c.2302A>T (p.Asn768Tyr)
c.2224A>T (p.Asn742Tyr)
c.*787A>T (n.*787A>T)
c.2263A>T (p.Asn755Tyr)
c.2083A>T (p.Asn695Tyr)
c.2557A>T (p.Asn853Tyr)
c.2416A>T (p.Asn806Tyr)
c.2377A>T (p.Asn793Tyr)
c.2236A>T (p.Asn746Tyr)
12g.109784370T>CCA386648796TRPV4c.2404A>G (p.Asn802Asp)
c.*1491A>G (n.*1491A>G)
c.2302A>G (p.Asn768Asp)
c.2224A>G (p.Asn742Asp)
c.*787A>G (n.*787A>G)
c.2263A>G (p.Asn755Asp)
c.2083A>G (p.Asn695Asp)
c.2557A>G (p.Asn853Asp)
c.2416A>G (p.Asn806Asp)
c.2377A>G (p.Asn793Asp)
c.2236A>G (p.Asn746Asp)
12g.109784370T>GCA386648797TRPV4c.2404A>C (p.Asn802His)
c.*1491A>C (n.*1491A>C)
c.2302A>C (p.Asn768His)
c.2224A>C (p.Asn742His)
c.*787A>C (n.*787A>C)
c.2263A>C (p.Asn755His)
c.2083A>C (p.Asn695His)
c.2557A>C (p.Asn853His)
c.2416A>C (p.Asn806His)
c.2377A>C (p.Asn793His)
c.2236A>C (p.Asn746His)
12g.109784371C>ACA386648798TRPV4c.2403G>T (p.Lys801Asn)
c.*1490G>T (n.*1490G>T)
c.2301G>T (p.Lys767Asn)
c.2223G>T (p.Lys741Asn)
c.*786G>T (n.*786G>T)
c.2262G>T (p.Lys754Asn)
c.2082G>T (p.Lys694Asn)
c.2556G>T (p.Lys852Asn)
c.2415G>T (p.Lys805Asn)
c.2376G>T (p.Lys792Asn)
c.2235G>T (p.Lys745Asn)
12g.109784371C>GCA386648799TRPV4c.2403G>C (p.Lys801Asn)
c.*1490G>C (n.*1490G>C)
c.2301G>C (p.Lys767Asn)
c.2223G>C (p.Lys741Asn)
c.*786G>C (n.*786G>C)
c.2262G>C (p.Lys754Asn)
c.2082G>C (p.Lys694Asn)
c.2556G>C (p.Lys852Asn)
c.2415G>C (p.Lys805Asn)
c.2376G>C (p.Lys792Asn)
c.2235G>C (p.Lys745Asn)
12g.109784371C>TCA481724025TRPV4c.2403G>A (p.Lys801=)
c.*1490G>A (n.*1490G>A)
c.2301G>A (p.Lys767=)
c.2223G>A (p.Lys741=)
c.*786G>A (n.*786G>A)
c.2262G>A (p.Lys754=)
c.2082G>A (p.Lys694=)
c.2556G>A (p.Lys852=)
c.2415G>A (p.Lys805=)
c.2376G>A (p.Lys792=)
c.2235G>A (p.Lys745=)
COSMIC
12g.109784372T>ACA386648800TRPV4c.2402A>T (p.Lys801Met)
c.*1489A>T (n.*1489A>T)
c.2300A>T (p.Lys767Met)
c.2222A>T (p.Lys741Met)
c.*785A>T (n.*785A>T)
c.2261A>T (p.Lys754Met)
c.2081A>T (p.Lys694Met)
c.2555A>T (p.Lys852Met)
c.2414A>T (p.Lys805Met)
c.2375A>T (p.Lys792Met)
c.2234A>T (p.Lys745Met)
12g.109784372T>CCA386648802TRPV4c.2402A>G (p.Lys801Arg)
c.*1489A>G (n.*1489A>G)
c.2300A>G (p.Lys767Arg)
c.2222A>G (p.Lys741Arg)
c.*785A>G (n.*785A>G)
c.2261A>G (p.Lys754Arg)
c.2081A>G (p.Lys694Arg)
c.2555A>G (p.Lys852Arg)
c.2414A>G (p.Lys805Arg)
c.2375A>G (p.Lys792Arg)
c.2234A>G (p.Lys745Arg)
12g.109784372T>GCA386648801TRPV4c.2402A>C (p.Lys801Thr)
c.*1489A>C (n.*1489A>C)
c.2300A>C (p.Lys767Thr)
c.2222A>C (p.Lys741Thr)
c.*785A>C (n.*785A>C)
c.2261A>C (p.Lys754Thr)
c.2081A>C (p.Lys694Thr)
c.2555A>C (p.Lys852Thr)
c.2414A>C (p.Lys805Thr)
c.2375A>C (p.Lys792Thr)
c.2234A>C (p.Lys745Thr)
12g.109784373T>ACA386648803TRPV4c.2401A>T (p.Lys801Ter)
c.*1488A>T (n.*1488A>T)
c.2299A>T (p.Lys767Ter)
c.2221A>T (p.Lys741Ter)
c.*784A>T (n.*784A>T)
c.2260A>T (p.Lys754Ter)
c.2080A>T (p.Lys694Ter)
c.2554A>T (p.Lys852Ter)
c.2413A>T (p.Lys805Ter)
c.2374A>T (p.Lys792Ter)
c.2233A>T (p.Lys745Ter)
12g.109784373T>CCA16619425TRPV4c.2401A>G (p.Lys801Glu)
c.*1488A>G (n.*1488A>G)
c.2299A>G (p.Lys767Glu)
c.2221A>G (p.Lys741Glu)
c.*784A>G (n.*784A>G)
c.2260A>G (p.Lys754Glu)
c.2080A>G (p.Lys694Glu)
c.2554A>G (p.Lys852Glu)
c.2413A>G (p.Lys805Glu)
c.2374A>G (p.Lys792Glu)
c.2233A>G (p.Lys745Glu)
ClinVar dbSNP
12g.109784373T>GCA386648804TRPV4c.2401A>C (p.Lys801Gln)
c.*1488A>C (n.*1488A>C)
c.2299A>C (p.Lys767Gln)
c.2221A>C (p.Lys741Gln)
c.*784A>C (n.*784A>C)
c.2260A>C (p.Lys754Gln)
c.2080A>C (p.Lys694Gln)
c.2554A>C (p.Lys852Gln)
c.2413A>C (p.Lys805Gln)
c.2374A>C (p.Lys792Gln)
c.2233A>C (p.Lys745Gln)
12g.109784373T=CA2062557931TRPV4c.2401A= (p.Lys801=)
c.*1488A= (n.*1488A=)
c.2299A= (p.Lys767=)
c.2221A= (p.Lys741=)
c.*784A= (n.*784A=)
c.2260A= (p.Lys754=)
c.2080A= (p.Lys694=)
c.2554A= (p.Lys852=)
c.2413A= (p.Lys805=)
c.2374A= (p.Lys792=)
c.2233A= (p.Lys745=)
12g.109784374G>ACA481724029TRPV4c.2400C>T (p.Gly800=)
c.*1487C>T (n.*1487C>T)
c.2298C>T (p.Gly766=)
c.2220C>T (p.Gly740=)
c.*783C>T (n.*783C>T)
c.2259C>T (p.Gly753=)
c.2079C>T (p.Gly693=)
c.2553C>T (p.Gly851=)
c.2412C>T (p.Gly804=)
c.2373C>T (p.Gly791=)
c.2232C>T (p.Gly744=)
12g.109784374G>CCA481724031TRPV4c.2400C>G (p.Gly800=)
c.*1487C>G (n.*1487C>G)
c.2298C>G (p.Gly766=)
c.2220C>G (p.Gly740=)
c.*783C>G (n.*783C>G)
c.2259C>G (p.Gly753=)
c.2079C>G (p.Gly693=)
c.2553C>G (p.Gly851=)
c.2412C>G (p.Gly804=)
c.2373C>G (p.Gly791=)
c.2232C>G (p.Gly744=)
ClinVar dbSNP
12g.109784374G=CA2062557934TRPV4c.2400C= (p.Gly800=)
c.*1487C= (n.*1487C=)
c.2298C= (p.Gly766=)
c.2220C= (p.Gly740=)
c.*783C= (n.*783C=)
c.2259C= (p.Gly753=)
c.2079C= (p.Gly693=)
c.2553C= (p.Gly851=)
c.2412C= (p.Gly804=)
c.2373C= (p.Gly791=)
c.2232C= (p.Gly744=)
12g.109784374G>TCA481724030TRPV4c.2400C>A (p.Gly800=)
c.*1487C>A (n.*1487C>A)
c.2298C>A (p.Gly766=)
c.2220C>A (p.Gly740=)
c.*783C>A (n.*783C>A)
c.2259C>A (p.Gly753=)
c.2079C>A (p.Gly693=)
c.2553C>A (p.Gly851=)
c.2412C>A (p.Gly804=)
c.2373C>A (p.Gly791=)
c.2232C>A (p.Gly744=)
12g.109784375C>ACA386648805TRPV4c.2399G>T (p.Gly800Val)
c.*1486G>T (n.*1486G>T)
c.2297G>T (p.Gly766Val)
c.2219G>T (p.Gly740Val)
c.*782G>T (n.*782G>T)
c.2258G>T (p.Gly753Val)
c.2078G>T (p.Gly693Val)
c.2552G>T (p.Gly851Val)
c.2411G>T (p.Gly804Val)
c.2372G>T (p.Gly791Val)
c.2231G>T (p.Gly744Val)
12g.109784375C=CA2062557936TRPV4c.2399G= (p.Gly800=)
c.*1486G= (n.*1486G=)
c.2297G= (p.Gly766=)
c.2219G= (p.Gly740=)
c.*782G= (n.*782G=)
c.2258G= (p.Gly753=)
c.2078G= (p.Gly693=)
c.2552G= (p.Gly851=)
c.2411G= (p.Gly804=)
c.2372G= (p.Gly791=)
c.2231G= (p.Gly744=)
12g.109784375C>GCA386648806TRPV4c.2399G>C (p.Gly800Ala)
c.*1486G>C (n.*1486G>C)
c.2297G>C (p.Gly766Ala)
c.2219G>C (p.Gly740Ala)
c.*782G>C (n.*782G>C)
c.2258G>C (p.Gly753Ala)
c.2078G>C (p.Gly693Ala)
c.2552G>C (p.Gly851Ala)
c.2411G>C (p.Gly804Ala)
c.2372G>C (p.Gly791Ala)
c.2231G>C (p.Gly744Ala)
12g.109784375C>TCA386648807TRPV4c.2399G>A (p.Gly800Asp)
c.*1486G>A (n.*1486G>A)
c.2297G>A (p.Gly766Asp)
c.2219G>A (p.Gly740Asp)
c.*782G>A (n.*782G>A)
c.2258G>A (p.Gly753Asp)
c.2078G>A (p.Gly693Asp)
c.2552G>A (p.Gly851Asp)
c.2411G>A (p.Gly804Asp)
c.2372G>A (p.Gly791Asp)
c.2231G>A (p.Gly744Asp)
ClinVar dbSNP
12g.109784376C>ACA386648808TRPV4c.2398G>T (p.Gly800Cys)
c.*1485G>T (n.*1485G>T)
c.2296G>T (p.Gly766Cys)
c.2218G>T (p.Gly740Cys)
c.*781G>T (n.*781G>T)
c.2257G>T (p.Gly753Cys)
c.2077G>T (p.Gly693Cys)
c.2551G>T (p.Gly851Cys)
c.2410G>T (p.Gly804Cys)
c.2371G>T (p.Gly791Cys)
c.2230G>T (p.Gly744Cys)
12g.109784376C>GCA386648809TRPV4c.2398G>C (p.Gly800Arg)
c.*1485G>C (n.*1485G>C)
c.2296G>C (p.Gly766Arg)
c.2218G>C (p.Gly740Arg)
c.*781G>C (n.*781G>C)
c.2257G>C (p.Gly753Arg)
c.2077G>C (p.Gly693Arg)
c.2551G>C (p.Gly851Arg)
c.2410G>C (p.Gly804Arg)
c.2371G>C (p.Gly791Arg)
c.2230G>C (p.Gly744Arg)
12g.109784376C>TCA386648810TRPV4c.2398G>A (p.Gly800Ser)
c.*1485G>A (n.*1485G>A)
c.2296G>A (p.Gly766Ser)
c.2218G>A (p.Gly740Ser)
c.*781G>A (n.*781G>A)
c.2257G>A (p.Gly753Ser)
c.2077G>A (p.Gly693Ser)
c.2551G>A (p.Gly851Ser)
c.2410G>A (p.Gly804Ser)
c.2371G>A (p.Gly791Ser)
c.2230G>A (p.Gly744Ser)
ClinVar
12g.109784377C>ACA481724033TRPV4c.2397G>T (p.Pro799=)
c.*1484G>T (n.*1484G>T)
c.2295G>T (p.Pro765=)
c.2217G>T (p.Pro739=)
c.*780G>T (n.*780G>T)
c.2256G>T (p.Pro752=)
c.2076G>T (p.Pro692=)
c.2550G>T (p.Pro850=)
c.2409G>T (p.Pro803=)
c.2370G>T (p.Pro790=)
c.2229G>T (p.Pro743=)
COSMIC
12g.109784377C=CA2062557938TRPV4c.2397G= (p.Pro799=)
c.*1484G= (n.*1484G=)
c.2295G= (p.Pro765=)
c.2217G= (p.Pro739=)
c.*780G= (n.*780G=)
c.2256G= (p.Pro752=)
c.2076G= (p.Pro692=)
c.2550G= (p.Pro850=)
c.2409G= (p.Pro803=)
c.2370G= (p.Pro790=)
c.2229G= (p.Pro743=)
12g.109784377C>GCA481724034TRPV4c.2397G>C (p.Pro799=)
c.*1484G>C (n.*1484G>C)
c.2295G>C (p.Pro765=)
c.2217G>C (p.Pro739=)
c.*780G>C (n.*780G>C)
c.2256G>C (p.Pro752=)
c.2076G>C (p.Pro692=)
c.2550G>C (p.Pro850=)
c.2409G>C (p.Pro803=)
c.2370G>C (p.Pro790=)
c.2229G>C (p.Pro743=)
gnomAD v4
12g.109784377C>TCA6779935TRPV4c.2397G>A (p.Pro799=)
c.*1484G>A (n.*1484G>A)
c.2295G>A (p.Pro765=)
c.2217G>A (p.Pro739=)
c.*780G>A (n.*780G>A)
c.2256G>A (p.Pro752=)
c.2076G>A (p.Pro692=)
c.2550G>A (p.Pro850=)
c.2409G>A (p.Pro803=)
c.2370G>A (p.Pro790=)
c.2229G>A (p.Pro743=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.109784378G>ACA117176TRPV4c.2396C>T (p.Pro799Leu)
c.*1483C>T (n.*1483C>T)
c.2294C>T (p.Pro765Leu)
c.2216C>T (p.Pro739Leu)
c.*779C>T (n.*779C>T)
c.2255C>T (p.Pro752Leu)
c.2075C>T (p.Pro692Leu)
c.2549C>T (p.Pro850Leu)
c.2408C>T (p.Pro803Leu)
c.2369C>T (p.Pro790Leu)
c.2228C>T (p.Pro743Leu)
ClinVar dbSNP
12g.109784378G>CCA117191TRPV4c.2396C>G (p.Pro799Arg)
c.*1483C>G (n.*1483C>G)
c.2294C>G (p.Pro765Arg)
c.2216C>G (p.Pro739Arg)
c.*779C>G (n.*779C>G)
c.2255C>G (p.Pro752Arg)
c.2075C>G (p.Pro692Arg)
c.2549C>G (p.Pro850Arg)
c.2408C>G (p.Pro803Arg)
c.2369C>G (p.Pro790Arg)
c.2228C>G (p.Pro743Arg)
ClinVar dbSNP
12g.109784378G=CA2062557941TRPV4c.2396C= (p.Pro799=)
c.*1483C= (n.*1483C=)
c.2294C= (p.Pro765=)
c.2216C= (p.Pro739=)
c.*779C= (n.*779C=)
c.2255C= (p.Pro752=)
c.2075C= (p.Pro692=)
c.2549C= (p.Pro850=)
c.2408C= (p.Pro803=)
c.2369C= (p.Pro790=)
c.2228C= (p.Pro743=)
12g.109784378G>TCA386648811TRPV4c.2396C>A (p.Pro799Gln)
c.*1483C>A (n.*1483C>A)
c.2294C>A (p.Pro765Gln)
c.2216C>A (p.Pro739Gln)
c.*779C>A (n.*779C>A)
c.2255C>A (p.Pro752Gln)
c.2075C>A (p.Pro692Gln)
c.2549C>A (p.Pro850Gln)
c.2408C>A (p.Pro803Gln)
c.2369C>A (p.Pro790Gln)
c.2228C>A (p.Pro743Gln)
ClinVar
12g.109784379G>ACA117189TRPV4c.2395C>T (p.Pro799Ser)
c.*1482C>T (n.*1482C>T)
c.2293C>T (p.Pro765Ser)
c.2215C>T (p.Pro739Ser)
c.*778C>T (n.*778C>T)
c.2254C>T (p.Pro752Ser)
c.2074C>T (p.Pro692Ser)
c.2548C>T (p.Pro850Ser)
c.2407C>T (p.Pro803Ser)
c.2368C>T (p.Pro790Ser)
c.2227C>T (p.Pro743Ser)
ClinVar dbSNP
12g.109784379G>CCA117187TRPV4c.2395C>G (p.Pro799Ala)
c.*1482C>G (n.*1482C>G)
c.2293C>G (p.Pro765Ala)
c.2215C>G (p.Pro739Ala)
c.*778C>G (n.*778C>G)
c.2254C>G (p.Pro752Ala)
c.2074C>G (p.Pro692Ala)
c.2548C>G (p.Pro850Ala)
c.2407C>G (p.Pro803Ala)
c.2368C>G (p.Pro790Ala)
c.2227C>G (p.Pro743Ala)
ClinVar dbSNP
12g.109784379G=CA2062557944TRPV4c.2395C= (p.Pro799=)
c.*1482C= (n.*1482C=)
c.2293C= (p.Pro765=)
c.2215C= (p.Pro739=)
c.*778C= (n.*778C=)
c.2254C= (p.Pro752=)
c.2074C= (p.Pro692=)
c.2548C= (p.Pro850=)
c.2407C= (p.Pro803=)
c.2368C= (p.Pro790=)
c.2227C= (p.Pro743=)
12g.109784379G>TCA386648812TRPV4c.2395C>A (p.Pro799Thr)
c.*1482C>A (n.*1482C>A)
c.2293C>A (p.Pro765Thr)
c.2215C>A (p.Pro739Thr)
c.*778C>A (n.*778C>A)
c.2254C>A (p.Pro752Thr)
c.2074C>A (p.Pro692Thr)
c.2548C>A (p.Pro850Thr)
c.2407C>A (p.Pro803Thr)
c.2368C>A (p.Pro790Thr)
c.2227C>A (p.Pro743Thr)
ClinVar dbSNP
12g.109784380G>ACA481724035TRPV4c.2394C>T (p.Asp798=)
c.*1481C>T (n.*1481C>T)
c.2292C>T (p.Asp764=)
c.2214C>T (p.Asp738=)
c.*777C>T (n.*777C>T)
c.2253C>T (p.Asp751=)
c.2073C>T (p.Asp691=)
c.2547C>T (p.Asp849=)
c.2406C>T (p.Asp802=)
c.2367C>T (p.Asp789=)
c.2226C>T (p.Asp742=)
12g.109784380G>CCA386648813TRPV4c.2394C>G (p.Asp798Glu)
c.*1481C>G (n.*1481C>G)
c.2292C>G (p.Asp764Glu)
c.2214C>G (p.Asp738Glu)
c.*777C>G (n.*777C>G)
c.2253C>G (p.Asp751Glu)
c.2073C>G (p.Asp691Glu)
c.2547C>G (p.Asp849Glu)
c.2406C>G (p.Asp802Glu)
c.2367C>G (p.Asp789Glu)
c.2226C>G (p.Asp742Glu)
12g.109784380G>TCA386648814TRPV4c.2394C>A (p.Asp798Glu)
c.*1481C>A (n.*1481C>A)
c.2292C>A (p.Asp764Glu)
c.2214C>A (p.Asp738Glu)
c.*777C>A (n.*777C>A)
c.2253C>A (p.Asp751Glu)
c.2073C>A (p.Asp691Glu)
c.2547C>A (p.Asp849Glu)
c.2406C>A (p.Asp802Glu)
c.2367C>A (p.Asp789Glu)
c.2226C>A (p.Asp742Glu)
12g.109784381T>ACA386648815TRPV4c.2393A>T (p.Asp798Val)
c.*1480A>T (n.*1480A>T)
c.2291A>T (p.Asp764Val)
c.2213A>T (p.Asp738Val)
c.*776A>T (n.*776A>T)
c.2252A>T (p.Asp751Val)
c.2072A>T (p.Asp691Val)
c.2546A>T (p.Asp849Val)
c.2405A>T (p.Asp802Val)
c.2366A>T (p.Asp789Val)
c.2225A>T (p.Asp742Val)
12g.109784381T>CCA386648816TRPV4c.2393A>G (p.Asp798Gly)
c.*1480A>G (n.*1480A>G)
c.2291A>G (p.Asp764Gly)
c.2213A>G (p.Asp738Gly)
c.*776A>G (n.*776A>G)
c.2252A>G (p.Asp751Gly)
c.2072A>G (p.Asp691Gly)
c.2546A>G (p.Asp849Gly)
c.2405A>G (p.Asp802Gly)
c.2366A>G (p.Asp789Gly)
c.2225A>G (p.Asp742Gly)
COSMIC
12g.109784381T>GCA386648817TRPV4c.2393A>C (p.Asp798Ala)
c.*1480A>C (n.*1480A>C)
c.2291A>C (p.Asp764Ala)
c.2213A>C (p.Asp738Ala)
c.*776A>C (n.*776A>C)
c.2252A>C (p.Asp751Ala)
c.2072A>C (p.Asp691Ala)
c.2546A>C (p.Asp849Ala)
c.2405A>C (p.Asp802Ala)
c.2366A>C (p.Asp789Ala)
c.2225A>C (p.Asp742Ala)
dbSNP
12g.109784381T=CA2062557947TRPV4c.2393A= (p.Asp798=)
c.*1480A= (n.*1480A=)
c.2291A= (p.Asp764=)
c.2213A= (p.Asp738=)
c.*776A= (n.*776A=)
c.2252A= (p.Asp751=)
c.2072A= (p.Asp691=)
c.2546A= (p.Asp849=)
c.2405A= (p.Asp802=)
c.2366A= (p.Asp789=)
c.2225A= (p.Asp742=)
12g.109784382C>ACA386648818TRPV4c.2392G>T (p.Asp798Tyr)
c.*1479G>T (n.*1479G>T)
c.2290G>T (p.Asp764Tyr)
c.2212G>T (p.Asp738Tyr)
c.*775G>T (n.*775G>T)
c.2251G>T (p.Asp751Tyr)
c.2071G>T (p.Asp691Tyr)
c.2545G>T (p.Asp849Tyr)
c.2404G>T (p.Asp802Tyr)
c.2365G>T (p.Asp789Tyr)
c.2224G>T (p.Asp742Tyr)
12g.109784382C>GCA386648819TRPV4c.2392G>C (p.Asp798His)
c.*1479G>C (n.*1479G>C)
c.2290G>C (p.Asp764His)
c.2212G>C (p.Asp738His)
c.*775G>C (n.*775G>C)
c.2251G>C (p.Asp751His)
c.2071G>C (p.Asp691His)
c.2545G>C (p.Asp849His)
c.2404G>C (p.Asp802His)
c.2365G>C (p.Asp789His)
c.2224G>C (p.Asp742His)
12g.109784382C>TCA386648820TRPV4c.2392G>A (p.Asp798Asn)
c.*1479G>A (n.*1479G>A)
c.2290G>A (p.Asp764Asn)
c.2212G>A (p.Asp738Asn)
c.*775G>A (n.*775G>A)
c.2251G>A (p.Asp751Asn)
c.2071G>A (p.Asp691Asn)
c.2545G>A (p.Asp849Asn)
c.2404G>A (p.Asp802Asn)
c.2365G>A (p.Asp789Asn)
c.2224G>A (p.Asp742Asn)
gnomAD v4
12g.109784383C>ACA386648821TRPV4c.2391G>T (p.Glu797Asp)
c.*1478G>T (n.*1478G>T)
c.2289G>T (p.Glu763Asp)
c.2211G>T (p.Glu737Asp)
c.*774G>T (n.*774G>T)
c.2250G>T (p.Glu750Asp)
c.2070G>T (p.Glu690Asp)
c.2544G>T (p.Glu848Asp)
c.2403G>T (p.Glu801Asp)
c.2364G>T (p.Glu788Asp)
c.2223G>T (p.Glu741Asp)
12g.109784383C=CA2062557949TRPV4c.2391G= (p.Glu797=)
c.*1478G= (n.*1478G=)
c.2289G= (p.Glu763=)
c.2211G= (p.Glu737=)
c.*774G= (n.*774G=)
c.2250G= (p.Glu750=)
c.2070G= (p.Glu690=)
c.2544G= (p.Glu848=)
c.2403G= (p.Glu801=)
c.2364G= (p.Glu788=)
c.2223G= (p.Glu741=)
12g.109784383C>GCA386648822TRPV4c.2391G>C (p.Glu797Asp)
c.*1478G>C (n.*1478G>C)
c.2289G>C (p.Glu763Asp)
c.2211G>C (p.Glu737Asp)
c.*774G>C (n.*774G>C)
c.2250G>C (p.Glu750Asp)
c.2070G>C (p.Glu690Asp)
c.2544G>C (p.Glu848Asp)
c.2403G>C (p.Glu801Asp)
c.2364G>C (p.Glu788Asp)
c.2223G>C (p.Glu741Asp)
ClinVar dbSNP
12g.109784383C>TCA6779936TRPV4c.2391G>A (p.Glu797=)
c.*1478G>A (n.*1478G>A)
c.2289G>A (p.Glu763=)
c.2211G>A (p.Glu737=)
c.*774G>A (n.*774G>A)
c.2250G>A (p.Glu750=)
c.2070G>A (p.Glu690=)
c.2544G>A (p.Glu848=)
c.2403G>A (p.Glu801=)
c.2364G>A (p.Glu788=)
c.2223G>A (p.Glu741=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784384T>ACA386648823TRPV4c.2390A>T (p.Glu797Val)
c.*1477A>T (n.*1477A>T)
c.2288A>T (p.Glu763Val)
c.2210A>T (p.Glu737Val)
c.*773A>T (n.*773A>T)
c.2249A>T (p.Glu750Val)
c.2069A>T (p.Glu690Val)
c.2543A>T (p.Glu848Val)
c.2402A>T (p.Glu801Val)
c.2363A>T (p.Glu788Val)
c.2222A>T (p.Glu741Val)
12g.109784384T>CCA386648824TRPV4c.2390A>G (p.Glu797Gly)
c.*1477A>G (n.*1477A>G)
c.2288A>G (p.Glu763Gly)
c.2210A>G (p.Glu737Gly)
c.*773A>G (n.*773A>G)
c.2249A>G (p.Glu750Gly)
c.2069A>G (p.Glu690Gly)
c.2543A>G (p.Glu848Gly)
c.2402A>G (p.Glu801Gly)
c.2363A>G (p.Glu788Gly)
c.2222A>G (p.Glu741Gly)
12g.109784384T>GCA386648825TRPV4c.2390A>C (p.Glu797Ala)
c.*1477A>C (n.*1477A>C)
c.2288A>C (p.Glu763Ala)
c.2210A>C (p.Glu737Ala)
c.*773A>C (n.*773A>C)
c.2249A>C (p.Glu750Ala)
c.2069A>C (p.Glu690Ala)
c.2543A>C (p.Glu848Ala)
c.2402A>C (p.Glu801Ala)
c.2363A>C (p.Glu788Ala)
c.2222A>C (p.Glu741Ala)
12g.109784385C>ACA386648826TRPV4c.2389G>T (p.Glu797Ter)
c.*1476G>T (n.*1476G>T)
c.2287G>T (p.Glu763Ter)
c.2209G>T (p.Glu737Ter)
c.*772G>T (n.*772G>T)
c.2248G>T (p.Glu750Ter)
c.2068G>T (p.Glu690Ter)
c.2542G>T (p.Glu848Ter)
c.2401G>T (p.Glu801Ter)
c.2362G>T (p.Glu788Ter)
c.2221G>T (p.Glu741Ter)
12g.109784385C=CA2062557952TRPV4c.2389G= (p.Glu797=)
c.*1476G= (n.*1476G=)
c.2287G= (p.Glu763=)
c.2209G= (p.Glu737=)
c.*772G= (n.*772G=)
c.2248G= (p.Glu750=)
c.2068G= (p.Glu690=)
c.2542G= (p.Glu848=)
c.2401G= (p.Glu801=)
c.2362G= (p.Glu788=)
c.2221G= (p.Glu741=)
12g.109784385C>GCA386648827TRPV4c.2389G>C (p.Glu797Gln)
c.*1476G>C (n.*1476G>C)
c.2287G>C (p.Glu763Gln)
c.2209G>C (p.Glu737Gln)
c.*772G>C (n.*772G>C)
c.2248G>C (p.Glu750Gln)
c.2068G>C (p.Glu690Gln)
c.2542G>C (p.Glu848Gln)
c.2401G>C (p.Glu801Gln)
c.2362G>C (p.Glu788Gln)
c.2221G>C (p.Glu741Gln)
12g.109784385C>TCA117195TRPV4c.2389G>A (p.Glu797Lys)
c.*1476G>A (n.*1476G>A)
c.2287G>A (p.Glu763Lys)
c.2209G>A (p.Glu737Lys)
c.*772G>A (n.*772G>A)
c.2248G>A (p.Glu750Lys)
c.2068G>A (p.Glu690Lys)
c.2542G>A (p.Glu848Lys)
c.2401G>A (p.Glu801Lys)
c.2362G>A (p.Glu788Lys)
c.2221G>A (p.Glu741Lys)
ClinVar dbSNP
12g.109784385_109784388delinsCGTTCA2062557954TRPV4c.2386_2389delinsAACG (p.Asn796=)
c.*1473_*1476delinsAACG (n.*1473_*1476delinsAACG)
c.2284_2287delinsAACG (p.Asn762=)
c.2206_2209delinsAACG (p.Asn736=)
c.*769_*772delinsAACG (n.*769_*772delinsAACG)
c.2245_2248delinsAACG (p.Asn749=)
c.2065_2068delinsAACG (p.Asn689=)
c.2539_2542delinsAACG (p.Asn847=)
c.2398_2401delinsAACG (p.Asn800=)
c.2359_2362delinsAACG (p.Asn787=)
c.2218_2221delinsAACG (p.Asn740=)

Number of alleles fetched