Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.109784284_109784290del | CA2620825988 | TRPV4 | c.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 |
12 | g.109784286G>A | CA6779905 | TRPV4 | c.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 |
12 | g.109784286G= | CA2062557832 | TRPV4 | c.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=) | |
12 | g.109784287C>A | CA6779906 | TRPV4 | c.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 |
12 | g.109784287C= | CA2062557834 | TRPV4 | c.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=) | |
12 | g.109784287C>T | CA683465815 | TRPV4 | c.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 |
12 | g.109784288T>G | CA2620825995 | TRPV4 | c.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 |
12 | g.109784289C>A | CA2520112751 | TRPV4 | c.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) | |
12 | g.109784289C= | CA2062557835 | TRPV4 | c.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=) | |
12 | g.109784289C>G | CA6779907 | TRPV4 | c.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 |
12 | g.109784290C>T | CA2620825998 | TRPV4 | c.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 |
12 | g.109784292C= | CA2062557836 | TRPV4 | c.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=) | |
12 | g.109784292C>T | CA2062557837 | TRPV4 | c.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 |
12 | g.109784294C= | CA2062557839 | TRPV4 | c.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=) | |
12 | g.109784294C>T | CA6779908 | TRPV4 | c.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 |
12 | g.109784295C= | CA2062557840 | TRPV4 | c.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=) | |
12 | g.109784295C>G | CA243494583 | TRPV4 | c.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 |
12 | g.109784295C>T | CA6779909 | TRPV4 | c.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 |
12 | g.109784296G>A | CA6779910 | TRPV4 | c.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 |
12 | g.109784296G= | CA2062557842 | TRPV4 | c.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=) | |
12 | g.109784297C= | CA2062557844 | TRPV4 | c.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=) | |
12 | g.109784297C>G | CA607297387 | TRPV4 | c.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 |
12 | g.109784297C>T | CA6779911 | TRPV4 | c.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 |
12 | g.109784298A= | CA2062557845 | TRPV4 | c.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=) | |
12 | g.109784298A>C | CA6779912 | TRPV4 | c.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 |
12 | g.109784299C>A | CA6779913 | TRPV4 | c.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 |
12 | g.109784299C= | CA2062557847 | TRPV4 | c.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=) | |
12 | g.109784299C>T | CA6779914 | TRPV4 | c.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 |
12 | g.109784301C>A | CA16606453 | TRPV4 | c.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 |
12 | g.109784301C= | CA2062557850 | TRPV4 | c.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=) | |
12 | g.109784301C>T | CA6779915 | TRPV4 | c.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 |
12 | g.109784302G>A | CA6779916 | TRPV4 | c.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 |
12 | g.109784302G= | CA2062557852 | TRPV4 | c.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=) | |
12 | g.109784303C>G | CA2620826041 | TRPV4 | c.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 |
12 | g.109784303C>T | CA2620826043 | TRPV4 | c.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 |
12 | g.109784308_109784319dup | CA2575286181 | TRPV4 | c.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 | |
12 | g.109784305C= | CA2062557853 | TRPV4 | c.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=) | |
12 | g.109784305C>T | CA6779917 | TRPV4 | c.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 |
12 | g.109784306C>A | CA607297427 | TRPV4 | c.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 |
12 | g.109784306C= | CA2062557855 | TRPV4 | c.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=) | |
12 | g.109784306C>G | CA2620826053 | TRPV4 | c.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 |
12 | g.109784309C= | CA2062557856 | TRPV4 | c.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=) | |
12 | g.109784309C>T | CA2062557857 | TRPV4 | c.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 |
12 | g.109784310A= | CA2062557858 | TRPV4 | c.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=) | |
12 | g.109784310A>T | CA2062557859 | TRPV4 | c.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 |
12 | g.109784311C>T | CA2620826059 | TRPV4 | c.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 |
12 | g.109784312T>G | CA2499221428 | TRPV4 | c.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 |
12 | g.109784313C= | CA2062557862 | TRPV4 | c.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=) | |
12 | g.109784313C>G | CA6779918 | TRPV4 | c.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 |
12 | g.109784313C>T | CA2062557860 | TRPV4 | c.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 |
12 | g.109784314A>C | CA386648676 | TRPV4 | c.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) | |
12 | g.109784314A>G | CA386648678 | TRPV4 | c.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) | |
12 | g.109784314A>T | CA386648677 | TRPV4 | c.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) | |
12 | g.109784314_109784374delinsACCCCTGCGGAGGCGGCCCACGGTATGCGAGAAGCCATAATACTGGTAGGTCTCATTCTTG | CA2062557864 | TRPV4 | c.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 | |
12 | g.109784315C>A | CA386648679 | TRPV4 | c.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 |
12 | g.109784315C= | CA2062557866 | TRPV4 | c.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=) | |
12 | g.109784315C>G | CA386648680 | TRPV4 | c.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) | |
12 | g.109784315C>T | CA386648681 | TRPV4 | c.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) | |
12 | g.109784318_109784377del | CA1139662862 | TRPV4 | c.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 |
12 | g.109784316C>A | CA6779919 | TRPV4 | c.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 |
12 | g.109784316C= | CA2062557870 | TRPV4 | c.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=) | |
12 | g.109784316C>G | CA386648682 | TRPV4 | c.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) | |
12 | g.109784316C>T | CA386648683 | TRPV4 | c.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) | |
12 | g.109784317C>A | CA386648684 | TRPV4 | c.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) | |
12 | g.109784317C>G | CA386648685 | TRPV4 | c.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) | |
12 | g.109784317C>T | CA481723981 | TRPV4 | c.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 |
12 | g.109784318C>A | CA386648686 | TRPV4 | c.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) | |
12 | g.109784318C= | CA2062557876 | TRPV4 | c.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=) | |
12 | g.109784318C>G | CA386648687 | TRPV4 | c.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) | |
12 | g.109784318C>T | CA386648688 | TRPV4 | c.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 |
12 | g.109784319T>A | CA386648689 | TRPV4 | c.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) | |
12 | g.109784319T>C | CA243494679 | TRPV4 | c.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 |
12 | g.109784319T>G | CA481723982 | TRPV4 | c.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=) | |
12 | g.109784319T= | CA2062557879 | TRPV4 | c.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=) | |
12 | g.109784320G>A | CA481723983 | TRPV4 | c.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=) | |
12 | g.109784320G>C | CA481723984 | TRPV4 | c.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 |
12 | g.109784320G= | CA2062557881 | TRPV4 | c.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=) | |
12 | g.109784320G>T | CA481723985 | TRPV4 | c.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=) | |
12 | g.109784321C>A | CA386648690 | TRPV4 | c.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) | |
12 | g.109784321C>G | CA386648692 | TRPV4 | c.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) | |
12 | g.109784321C>T | CA386648691 | TRPV4 | c.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 |
12 | g.109784322G>A | CA6779920 | TRPV4 | c.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 |
12 | g.109784322G>C | CA386648693 | TRPV4 | c.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) | |
12 | g.109784322G= | CA2062557883 | TRPV4 | c.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=) | |
12 | g.109784322G>T | CA386648694 | TRPV4 | c.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) | |
12 | g.109784323G>A | CA481723986 | TRPV4 | c.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=) | |
12 | g.109784323G>C | CA481723987 | TRPV4 | c.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=) | |
12 | g.109784323G>T | CA481723988 | TRPV4 | c.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=) | |
12 | g.109784324A>C | CA386648695 | TRPV4 | c.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 |
12 | g.109784324A>G | CA386648696 | TRPV4 | c.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) | |
12 | g.109784324A>T | CA386648697 | TRPV4 | c.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) | |
12 | g.109784325G>A | CA386648698 | TRPV4 | c.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) | |
12 | g.109784325G>C | CA386648699 | TRPV4 | c.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) | |
12 | g.109784325G>T | CA386648700 | TRPV4 | c.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) | |
12 | g.109784326G>A | CA481723989 | TRPV4 | c.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=) | |
12 | g.109784326G>C | CA481723990 | TRPV4 | c.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=) | |
12 | g.109784326G>T | CA481723991 | TRPV4 | c.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=) | |
12 | g.109784327C>A | CA386648701 | TRPV4 | c.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) | |
12 | g.109784327C= | CA2062557888 | TRPV4 | c.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=) | |
12 | g.109784327C>G | CA386648702 | TRPV4 | c.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) | |
12 | g.109784327C>T | CA386648703 | TRPV4 | c.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 |
12 | g.109784328G>A | CA6779921 | TRPV4 | c.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 |
12 | g.109784328G>C | CA386648704 | TRPV4 | c.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 |
12 | g.109784328G= | CA2062557893 | TRPV4 | c.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=) | |
12 | g.109784328G>T | CA386648705 | TRPV4 | c.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) | |
12 | g.109784329G>A | CA481723992 | TRPV4 | c.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=) | |
12 | g.109784329G>C | CA481723993 | TRPV4 | c.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=) | |
12 | g.109784329G>T | CA481723994 | TRPV4 | c.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=) | |
12 | g.109784330C>A | CA386648706 | TRPV4 | c.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) | |
12 | g.109784330C>G | CA386648707 | TRPV4 | c.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) | |
12 | g.109784330C>T | CA386648708 | TRPV4 | c.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 |
12 | g.109784331C>A | CA386648709 | TRPV4 | c.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) | |
12 | g.109784331C>G | CA386648710 | TRPV4 | c.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) | |
12 | g.109784331C>T | CA386648711 | TRPV4 | c.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) | |
12 | g.109784332C>A | CA481723995 | TRPV4 | c.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=) | |
12 | g.109784332C>G | CA481723996 | TRPV4 | c.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=) | |
12 | g.109784332C>T | CA481723997 | TRPV4 | c.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=) | |
12 | g.109784333A>C | CA386648712 | TRPV4 | c.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) | |
12 | g.109784333A>G | CA386648713 | TRPV4 | c.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) | |
12 | g.109784333A>T | CA386648714 | TRPV4 | c.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) | |
12 | g.109784334C>A | CA6779923 | TRPV4 | c.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 |
12 | g.109784334C= | CA2062557897 | TRPV4 | c.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=) | |
12 | g.109784334C>G | CA386648715 | TRPV4 | c.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) | |
12 | g.109784334C>T | CA6779922 | TRPV4 | c.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 |
12 | g.109784335G>A | CA6779924 | TRPV4 | c.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 |
12 | g.109784335G>C | CA481723998 | TRPV4 | c.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 |
12 | g.109784335G= | CA2062557899 | TRPV4 | c.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=) | |
12 | g.109784335G>T | CA6779925 | TRPV4 | c.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 |
12 | g.109784336G>A | CA386648716 | TRPV4 | c.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 |
12 | g.109784336G>C | CA386648717 | TRPV4 | c.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) | |
12 | g.109784336G= | CA2062557901 | TRPV4 | c.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=) | |
12 | g.109784336G>T | CA386648718 | TRPV4 | c.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) | |
12 | g.109784337T>A | CA386648719 | TRPV4 | c.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) | |
12 | g.109784337T>C | CA386648720 | TRPV4 | c.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 |
12 | g.109784337T>G | CA386648721 | TRPV4 | c.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) | |
12 | g.109784338A>C | CA386648723 | TRPV4 | c.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) | |
12 | g.109784338A>G | CA481723999 | TRPV4 | c.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=) | |
12 | g.109784338A>T | CA386648722 | TRPV4 | c.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) | |
12 | g.109784339T>A | CA386648724 | TRPV4 | c.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) | |
12 | g.109784339T>C | CA386648725 | TRPV4 | c.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 |
12 | g.109784339T>G | CA386648726 | TRPV4 | c.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) | |
12 | g.109784339T= | CA2062557903 | TRPV4 | c.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=) | |
12 | g.109784340G>A | CA6779926 | TRPV4 | c.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 |
12 | g.109784340G>C | CA386648727 | TRPV4 | c.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) | |
12 | g.109784340G= | CA2062557904 | TRPV4 | c.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=) | |
12 | g.109784340G>T | CA386648728 | TRPV4 | c.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) | |
12 | g.109784341C>A | CA6779928 | TRPV4 | c.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 |
12 | g.109784341C= | CA2062557907 | TRPV4 | c.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=) | |
12 | g.109784341C>G | CA348949 | TRPV4 | c.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 |
12 | g.109784341C>T | CA6779927 | TRPV4 | c.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 |
12 | g.109784342G>A | CA6779929 | TRPV4 | c.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 |
12 | g.109784342G>C | CA386648729 | TRPV4 | c.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) | |
12 | g.109784342G= | CA2062557910 | TRPV4 | c.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=) | |
12 | g.109784342G>T | CA386648730 | TRPV4 | c.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) | |
12 | g.109784343A>C | CA386648731 | TRPV4 | c.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) | |
12 | g.109784343A>G | CA386648732 | TRPV4 | c.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) | |
12 | g.109784343A>T | CA386648733 | TRPV4 | c.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) | |
12 | g.109784344G>A | CA6779930 | TRPV4 | c.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 |
12 | g.109784344G>C | CA386648734 | TRPV4 | c.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) | |
12 | g.109784344G= | CA2062557912 | TRPV4 | c.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=) | |
12 | g.109784344G>T | CA386648735 | TRPV4 | c.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) | |
12 | g.109784345A>C | CA386648736 | TRPV4 | c.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) | |
12 | g.109784345A>G | CA386648737 | TRPV4 | c.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) | |
12 | g.109784345A>T | CA386648738 | TRPV4 | c.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) | |
12 | g.109784346A= | CA2062557914 | TRPV4 | c.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=) | |
12 | g.109784346A>C | CA386648741 | TRPV4 | c.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 |
12 | g.109784346A>G | CA386648740 | TRPV4 | c.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) | |
12 | g.109784346A>T | CA386648739 | TRPV4 | c.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 |
12 | g.109784347G>A | CA481724001 | TRPV4 | c.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=) | |
12 | g.109784347G>C | CA481724002 | TRPV4 | c.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=) | |
12 | g.109784347G>T | CA481724003 | TRPV4 | c.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=) | |
12 | g.109784348C>A | CA386648744 | TRPV4 | c.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 |
12 | g.109784348C>G | CA386648742 | TRPV4 | c.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) | |
12 | g.109784348C>T | CA386648743 | TRPV4 | c.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 |
12 | g.109784349C>A | CA386648745 | TRPV4 | c.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) | |
12 | g.109784349C= | CA2062557916 | TRPV4 | c.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=) | |
12 | g.109784349C>G | CA386648746 | TRPV4 | c.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) | |
12 | g.109784349C>T | CA6779931 | TRPV4 | c.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 |
12 | g.109784350A= | CA2062557918 | TRPV4 | c.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=) | |
12 | g.109784350A>C | CA386648747 | TRPV4 | c.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) | |
12 | g.109784350A>G | CA481724004 | TRPV4 | c.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 |
12 | g.109784350A>T | CA386648748 | TRPV4 | c.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) | |
12 | g.109784351T>A | CA386648751 | TRPV4 | c.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) | |
12 | g.109784351T>C | CA386648749 | TRPV4 | c.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) | |
12 | g.109784351T>G | CA386648750 | TRPV4 | c.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) | |
12 | g.109784352A>C | CA386648752 | TRPV4 | c.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) | |
12 | g.109784352A>G | CA386648753 | TRPV4 | c.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) | |
12 | g.109784352A>T | CA386648754 | TRPV4 | c.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) | |
12 | g.109784353A>C | CA386648755 | TRPV4 | c.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 |
12 | g.109784353A>G | CA481724005 | TRPV4 | c.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 |
12 | g.109784353A>T | CA386648756 | TRPV4 | c.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) | |
12 | g.109784354T>A | CA386648759 | TRPV4 | c.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) | |
12 | g.109784354T>C | CA386648757 | TRPV4 | c.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) | |
12 | g.109784354T>G | CA386648758 | TRPV4 | c.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) | |
12 | g.109784354dup | CA2620826191 | TRPV4 | c.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 |
12 | g.109784355A>C | CA386648760 | TRPV4 | c.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) | |
12 | g.109784355A>G | CA386648761 | TRPV4 | c.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) | |
12 | g.109784355A>T | CA386648762 | TRPV4 | c.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) | |
12 | g.109784356C>A | CA386648763 | TRPV4 | c.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) | |
12 | g.109784356C= | CA2062557919 | TRPV4 | c.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=) | |
12 | g.109784356C>G | CA386648764 | TRPV4 | c.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) | |
12 | g.109784356C>T | CA481724008 | TRPV4 | c.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 |
12 | g.109784357T>A | CA386648765 | TRPV4 | c.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) | |
12 | g.109784357T>C | CA386648766 | TRPV4 | c.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 |
12 | g.109784357T>G | CA386648767 | TRPV4 | c.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) | |
12 | g.109784358G>A | CA386648768 | TRPV4 | c.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) | |
12 | g.109784358G>C | CA386648769 | TRPV4 | c.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) | |
12 | g.109784358G>T | CA386648770 | TRPV4 | c.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) | |
12 | g.109784359G>A | CA481724012 | TRPV4 | c.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 |
12 | g.109784359G>C | CA386648771 | TRPV4 | c.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) | |
12 | g.109784359G= | CA2062557921 | TRPV4 | c.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=) | |
12 | g.109784359G>T | CA386648772 | TRPV4 | c.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) | |
12 | g.109784360T>A | CA386648773 | TRPV4 | c.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) | |
12 | g.109784360T>C | CA386648775 | TRPV4 | c.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) | |
12 | g.109784360T>G | CA386648774 | TRPV4 | c.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) | |
12 | g.109784361A>C | CA386648776 | TRPV4 | c.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) | |
12 | g.109784361A>G | CA386648777 | TRPV4 | c.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) | |
12 | g.109784361A>T | CA386648778 | TRPV4 | c.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) | |
12 | g.109784361_109784378delinsAGGTCTCATTCTTGCCCG | CA2062557922 | TRPV4 | c.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=) | |
12 | g.109784362G>A | CA481724014 | TRPV4 | c.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=) | |
12 | g.109784362G>C | CA481724016 | TRPV4 | c.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 |
12 | g.109784362G= | CA2062557924 | TRPV4 | c.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=) | |
12 | g.109784362G>T | CA481724017 | TRPV4 | c.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=) | |
12 | g.109784366_109784382del | CA347737 | TRPV4 | c.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 |
12 | g.109784363G>A | CA386648779 | TRPV4 | c.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) | |
12 | g.109784363G>C | CA386648780 | TRPV4 | c.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) | |
12 | g.109784363G>T | CA386648781 | TRPV4 | c.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 |
12 | g.109784364T>A | CA386648782 | TRPV4 | c.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) | |
12 | g.109784364T>C | CA386648783 | TRPV4 | c.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) | |
12 | g.109784364T>G | CA6779932 | TRPV4 | c.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 |
12 | g.109784364T= | CA2062557926 | TRPV4 | c.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=) | |
12 | g.109784365C>A | CA386648784 | TRPV4 | c.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) | |
12 | g.109784365C= | CA2062557928 | TRPV4 | c.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=) | |
12 | g.109784365C>G | CA6779933 | TRPV4 | c.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 |
12 | g.109784365C>T | CA481724019 | TRPV4 | c.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=) | |
12 | g.109784366T>A | CA386648786 | TRPV4 | c.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) | |
12 | g.109784366T>C | CA386648787 | TRPV4 | c.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) | |
12 | g.109784366T>G | CA386648785 | TRPV4 | c.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) | |
12 | g.109784367C>A | CA386648788 | TRPV4 | c.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) | |
12 | g.109784367C>G | CA386648789 | TRPV4 | c.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) | |
12 | g.109784367C>T | CA386648790 | TRPV4 | c.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 |
12 | g.109784368A= | CA2062557930 | TRPV4 | c.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=) | |
12 | g.109784368A>C | CA6779934 | TRPV4 | c.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 |
12 | g.109784368A>G | CA481724024 | TRPV4 | c.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=) | |
12 | g.109784368A>T | CA386648791 | TRPV4 | c.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) | |
12 | g.109784369T>A | CA386648794 | TRPV4 | c.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) | |
12 | g.109784369T>C | CA386648792 | TRPV4 | c.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) | |
12 | g.109784369T>G | CA386648793 | TRPV4 | c.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) | |
12 | g.109784370T>A | CA386648795 | TRPV4 | c.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) | |
12 | g.109784370T>C | CA386648796 | TRPV4 | c.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) | |
12 | g.109784370T>G | CA386648797 | TRPV4 | c.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) | |
12 | g.109784371C>A | CA386648798 | TRPV4 | c.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) | |
12 | g.109784371C>G | CA386648799 | TRPV4 | c.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) | |
12 | g.109784371C>T | CA481724025 | TRPV4 | c.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 |
12 | g.109784372T>A | CA386648800 | TRPV4 | c.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) | |
12 | g.109784372T>C | CA386648802 | TRPV4 | c.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) | |
12 | g.109784372T>G | CA386648801 | TRPV4 | c.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) | |
12 | g.109784373T>A | CA386648803 | TRPV4 | c.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) | |
12 | g.109784373T>C | CA16619425 | TRPV4 | c.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 |
12 | g.109784373T>G | CA386648804 | TRPV4 | c.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) | |
12 | g.109784373T= | CA2062557931 | TRPV4 | c.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=) | |
12 | g.109784374G>A | CA481724029 | TRPV4 | c.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=) | |
12 | g.109784374G>C | CA481724031 | TRPV4 | c.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 |
12 | g.109784374G= | CA2062557934 | TRPV4 | c.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=) | |
12 | g.109784374G>T | CA481724030 | TRPV4 | c.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=) | |
12 | g.109784375C>A | CA386648805 | TRPV4 | c.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) | |
12 | g.109784375C= | CA2062557936 | TRPV4 | c.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=) | |
12 | g.109784375C>G | CA386648806 | TRPV4 | c.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) | |
12 | g.109784375C>T | CA386648807 | TRPV4 | c.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 |
12 | g.109784376C>A | CA386648808 | TRPV4 | c.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) | |
12 | g.109784376C>G | CA386648809 | TRPV4 | c.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) | |
12 | g.109784376C>T | CA386648810 | TRPV4 | c.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 |
12 | g.109784377C>A | CA481724033 | TRPV4 | c.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 |
12 | g.109784377C= | CA2062557938 | TRPV4 | c.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=) | |
12 | g.109784377C>G | CA481724034 | TRPV4 | c.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 |
12 | g.109784377C>T | CA6779935 | TRPV4 | c.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 |
12 | g.109784378G>A | CA117176 | TRPV4 | c.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 |
12 | g.109784378G>C | CA117191 | TRPV4 | c.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 |
12 | g.109784378G= | CA2062557941 | TRPV4 | c.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=) | |
12 | g.109784378G>T | CA386648811 | TRPV4 | c.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 |
12 | g.109784379G>A | CA117189 | TRPV4 | c.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 |
12 | g.109784379G>C | CA117187 | TRPV4 | c.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 |
12 | g.109784379G= | CA2062557944 | TRPV4 | c.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=) | |
12 | g.109784379G>T | CA386648812 | TRPV4 | c.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 |
12 | g.109784380G>A | CA481724035 | TRPV4 | c.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=) | |
12 | g.109784380G>C | CA386648813 | TRPV4 | c.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) | |
12 | g.109784380G>T | CA386648814 | TRPV4 | c.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) | |
12 | g.109784381T>A | CA386648815 | TRPV4 | c.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) | |
12 | g.109784381T>C | CA386648816 | TRPV4 | c.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 |
12 | g.109784381T>G | CA386648817 | TRPV4 | c.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 |
12 | g.109784381T= | CA2062557947 | TRPV4 | c.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=) | |
12 | g.109784382C>A | CA386648818 | TRPV4 | c.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) | |
12 | g.109784382C>G | CA386648819 | TRPV4 | c.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) | |
12 | g.109784382C>T | CA386648820 | TRPV4 | c.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 |
12 | g.109784383C>A | CA386648821 | TRPV4 | c.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) | |
12 | g.109784383C= | CA2062557949 | TRPV4 | c.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=) | |
12 | g.109784383C>G | CA386648822 | TRPV4 | c.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 |
12 | g.109784383C>T | CA6779936 | TRPV4 | c.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 |
12 | g.109784384T>A | CA386648823 | TRPV4 | c.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) | |
12 | g.109784384T>C | CA386648824 | TRPV4 | c.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) | |
12 | g.109784384T>G | CA386648825 | TRPV4 | c.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) | |
12 | g.109784385C>A | CA386648826 | TRPV4 | c.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) | |
12 | g.109784385C= | CA2062557952 | TRPV4 | c.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=) | |
12 | g.109784385C>G | CA386648827 | TRPV4 | c.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) | |
12 | g.109784385C>T | CA117195 | TRPV4 | c.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 |
12 | g.109784385_109784388delinsCGTT | CA2062557954 | TRPV4 | c.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=) |