| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109783751_109783757delinsT | CA2695217256 | TRPV4 | c.2480_2486delinsA (p.Pro827_Val829delinsGln) c.*1567_*1573delinsA (n.*1567_*1573delinsA) c.2378_2384delinsA (p.Pro793_Val795delinsGln) c.2300_2306delinsA (p.Pro767_Val769delinsGln) c.*863_*869delinsA (n.*863_*869delinsA) c.2339_2345delinsA (p.Pro780_Val782delinsGln) c.2159_2165delinsA (p.Pro720_Val722delinsGln) c.2633_2639delinsA (p.Pro878_Val880delinsGln) c.2492_2498delinsA (p.Pro831_Val833delinsGln) c.2453_2459delinsA (p.Pro818_Val820delinsGln) c.2312_2318delinsA (p.Pro771_Val773delinsGln) | |
| 12 | g.109783752_109783756delinsCGCGG | CA2062557400 | TRPV4 | c.2481_2485delinsCCGCG (p.Pro827=) c.*1568_*1572delinsCCGCG (n.*1568_*1572delinsCCGCG) c.2379_2383delinsCCGCG (p.Pro793=) c.2301_2305delinsCCGCG (p.Pro767=) c.*864_*868delinsCCGCG (n.*864_*868delinsCCGCG) c.2340_2344delinsCCGCG (p.Pro780=) c.2160_2164delinsCCGCG (p.Pro720=) c.2634_2638delinsCCGCG (p.Pro878=) c.2493_2497delinsCCGCG (p.Pro831=) c.2454_2458delinsCCGCG (p.Pro818=) c.2313_2317delinsCCGCG (p.Pro771=) | |
| 12 | g.109783754_109783757del | CA658656313 | TRPV4 | c.2481_2484del (p.Arg828TrpfsTer4) c.*1568_*1571del (n.*1568_*1571del) c.2379_2382del (p.Arg794TrpfsTer4) c.2301_2304del (p.Arg768TrpfsTer4) c.*864_*867del (n.*864_*867del) c.2340_2343del (p.Arg781TrpfsTer4) c.2160_2163del (p.Arg721TrpfsTer4) c.2634_2637del (p.Arg879TrpfsTer4) c.2493_2496del (p.Arg832TrpfsTer4) c.2454_2457del (p.Arg819TrpfsTer4) c.2313_2316del (p.Arg772TrpfsTer4) | dbSNP |
| 12 | g.109783754C>A | CA386648618 | TRPV4 | c.2483G>T (p.Arg828Leu) c.*1570G>T (n.*1570G>T) c.2381G>T (p.Arg794Leu) c.2303G>T (p.Arg768Leu) c.*866G>T (n.*866G>T) c.2342G>T (p.Arg781Leu) c.2162G>T (p.Arg721Leu) c.2636G>T (p.Arg879Leu) c.2495G>T (p.Arg832Leu) c.2456G>T (p.Arg819Leu) c.2315G>T (p.Arg772Leu) | |
| 12 | g.109783754C= | CA2062557402 | TRPV4 | c.2483G= (p.Arg828=) c.*1570G= (n.*1570G=) c.2381G= (p.Arg794=) c.2303G= (p.Arg768=) c.*866G= (n.*866G=) c.2342G= (p.Arg781=) c.2162G= (p.Arg721=) c.2636G= (p.Arg879=) c.2495G= (p.Arg832=) c.2456G= (p.Arg819=) c.2315G= (p.Arg772=) | |
| 12 | g.109783754C>G | CA386648619 | TRPV4 | c.2483G>C (p.Arg828Pro) c.*1570G>C (n.*1570G>C) c.2381G>C (p.Arg794Pro) c.2303G>C (p.Arg768Pro) c.*866G>C (n.*866G>C) c.2342G>C (p.Arg781Pro) c.2162G>C (p.Arg721Pro) c.2636G>C (p.Arg879Pro) c.2495G>C (p.Arg832Pro) c.2456G>C (p.Arg819Pro) c.2315G>C (p.Arg772Pro) | |
| 12 | g.109783754C>T | CA6779878 | TRPV4 | c.2483G>A (p.Arg828His) c.*1570G>A (n.*1570G>A) c.2381G>A (p.Arg794His) c.2303G>A (p.Arg768His) c.*866G>A (n.*866G>A) c.2342G>A (p.Arg781His) c.2162G>A (p.Arg721His) c.2636G>A (p.Arg879His) c.2495G>A (p.Arg832His) c.2456G>A (p.Arg819His) c.2315G>A (p.Arg772His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109783755G>A | CA386648620 | TRPV4 | c.2482C>T (p.Arg828Cys) c.*1569C>T (n.*1569C>T) c.2380C>T (p.Arg794Cys) c.2302C>T (p.Arg768Cys) c.*865C>T (n.*865C>T) c.2341C>T (p.Arg781Cys) c.2161C>T (p.Arg721Cys) c.2635C>T (p.Arg879Cys) c.2494C>T (p.Arg832Cys) c.2455C>T (p.Arg819Cys) c.2314C>T (p.Arg772Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109783755G>C | CA386648621 | TRPV4 | c.2482C>G (p.Arg828Gly) c.*1569C>G (n.*1569C>G) c.2380C>G (p.Arg794Gly) c.2302C>G (p.Arg768Gly) c.*865C>G (n.*865C>G) c.2341C>G (p.Arg781Gly) c.2161C>G (p.Arg721Gly) c.2635C>G (p.Arg879Gly) c.2494C>G (p.Arg832Gly) c.2455C>G (p.Arg819Gly) c.2314C>G (p.Arg772Gly) | |
| 12 | g.109783755G= | CA2062557403 | TRPV4 | c.2482C= (p.Arg828=) c.*1569C= (n.*1569C=) c.2380C= (p.Arg794=) c.2302C= (p.Arg768=) c.*865C= (n.*865C=) c.2341C= (p.Arg781=) c.2161C= (p.Arg721=) c.2635C= (p.Arg879=) c.2494C= (p.Arg832=) c.2455C= (p.Arg819=) c.2314C= (p.Arg772=) | |
| 12 | g.109783755G>T | CA386648622 | TRPV4 | c.2482C>A (p.Arg828Ser) c.*1569C>A (n.*1569C>A) c.2380C>A (p.Arg794Ser) c.2302C>A (p.Arg768Ser) c.*865C>A (n.*865C>A) c.2341C>A (p.Arg781Ser) c.2161C>A (p.Arg721Ser) c.2635C>A (p.Arg879Ser) c.2494C>A (p.Arg832Ser) c.2455C>A (p.Arg819Ser) c.2314C>A (p.Arg772Ser) | ClinVar dbSNP gnomAD v4 |
| 12 | g.109783756G>A | CA6779879 | TRPV4 | c.2481C>T (p.Pro827=) c.*1568C>T (n.*1568C>T) c.2379C>T (p.Pro793=) c.2301C>T (p.Pro767=) c.*864C>T (n.*864C>T) c.2340C>T (p.Pro780=) c.2160C>T (p.Pro720=) c.2634C>T (p.Pro878=) c.2493C>T (p.Pro831=) c.2454C>T (p.Pro818=) c.2313C>T (p.Pro771=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.109783756G>C | CA481723963 | TRPV4 | c.2481C>G (p.Pro827=) c.*1568C>G (n.*1568C>G) c.2379C>G (p.Pro793=) c.2301C>G (p.Pro767=) c.*864C>G (n.*864C>G) c.2340C>G (p.Pro780=) c.2160C>G (p.Pro720=) c.2634C>G (p.Pro878=) c.2493C>G (p.Pro831=) c.2454C>G (p.Pro818=) c.2313C>G (p.Pro771=) | |
| 12 | g.109783756G= | CA2062557404 | TRPV4 | c.2481C= (p.Pro827=) c.*1568C= (n.*1568C=) c.2379C= (p.Pro793=) c.2301C= (p.Pro767=) c.*864C= (n.*864C=) c.2340C= (p.Pro780=) c.2160C= (p.Pro720=) c.2634C= (p.Pro878=) c.2493C= (p.Pro831=) c.2454C= (p.Pro818=) c.2313C= (p.Pro771=) | |
| 12 | g.109783756G>T | CA481723962 | TRPV4 | c.2481C>A (p.Pro827=) c.*1568C>A (n.*1568C>A) c.2379C>A (p.Pro793=) c.2301C>A (p.Pro767=) c.*864C>A (n.*864C>A) c.2340C>A (p.Pro780=) c.2160C>A (p.Pro720=) c.2634C>A (p.Pro878=) c.2493C>A (p.Pro831=) c.2454C>A (p.Pro818=) c.2313C>A (p.Pro771=) | |
| 12 | g.109783757G>A | CA386648623 | TRPV4 | c.2480C>T (p.Pro827Leu) c.*1567C>T (n.*1567C>T) c.2378C>T (p.Pro793Leu) c.2300C>T (p.Pro767Leu) c.*863C>T (n.*863C>T) c.2339C>T (p.Pro780Leu) c.2159C>T (p.Pro720Leu) c.2633C>T (p.Pro878Leu) c.2492C>T (p.Pro831Leu) c.2453C>T (p.Pro818Leu) c.2312C>T (p.Pro771Leu) | |
| 12 | g.109783757G>C | CA386648624 | TRPV4 | c.2480C>G (p.Pro827Arg) c.*1567C>G (n.*1567C>G) c.2378C>G (p.Pro793Arg) c.2300C>G (p.Pro767Arg) c.*863C>G (n.*863C>G) c.2339C>G (p.Pro780Arg) c.2159C>G (p.Pro720Arg) c.2633C>G (p.Pro878Arg) c.2492C>G (p.Pro831Arg) c.2453C>G (p.Pro818Arg) c.2312C>G (p.Pro771Arg) | |
| 12 | g.109783757G>T | CA386648625 | TRPV4 | c.2480C>A (p.Pro827His) c.*1567C>A (n.*1567C>A) c.2378C>A (p.Pro793His) c.2300C>A (p.Pro767His) c.*863C>A (n.*863C>A) c.2339C>A (p.Pro780His) c.2159C>A (p.Pro720His) c.2633C>A (p.Pro878His) c.2492C>A (p.Pro831His) c.2453C>A (p.Pro818His) c.2312C>A (p.Pro771His) | ClinVar dbSNP |
| 12 | g.109783758G>A | CA386648626 | TRPV4 | c.2479C>T (p.Pro827Ser) c.*1566C>T (n.*1566C>T) c.2377C>T (p.Pro793Ser) c.2299C>T (p.Pro767Ser) c.*862C>T (n.*862C>T) c.2338C>T (p.Pro780Ser) c.2158C>T (p.Pro720Ser) c.2632C>T (p.Pro878Ser) c.2491C>T (p.Pro831Ser) c.2452C>T (p.Pro818Ser) c.2311C>T (p.Pro771Ser) | |
| 12 | g.109783758G>C | CA386648627 | TRPV4 | c.2479C>G (p.Pro827Ala) c.*1566C>G (n.*1566C>G) c.2377C>G (p.Pro793Ala) c.2299C>G (p.Pro767Ala) c.*862C>G (n.*862C>G) c.2338C>G (p.Pro780Ala) c.2158C>G (p.Pro720Ala) c.2632C>G (p.Pro878Ala) c.2491C>G (p.Pro831Ala) c.2452C>G (p.Pro818Ala) c.2311C>G (p.Pro771Ala) | ClinVar dbSNP |
| 12 | g.109783758G= | CA2062557405 | TRPV4 | c.2479C= (p.Pro827=) c.*1566C= (n.*1566C=) c.2377C= (p.Pro793=) c.2299C= (p.Pro767=) c.*862C= (n.*862C=) c.2338C= (p.Pro780=) c.2158C= (p.Pro720=) c.2632C= (p.Pro878=) c.2491C= (p.Pro831=) c.2452C= (p.Pro818=) c.2311C= (p.Pro771=) | |
| 12 | g.109783758G>T | CA386648628 | TRPV4 | c.2479C>A (p.Pro827Thr) c.*1566C>A (n.*1566C>A) c.2377C>A (p.Pro793Thr) c.2299C>A (p.Pro767Thr) c.*862C>A (n.*862C>A) c.2338C>A (p.Pro780Thr) c.2158C>A (p.Pro720Thr) c.2632C>A (p.Pro878Thr) c.2491C>A (p.Pro831Thr) c.2452C>A (p.Pro818Thr) c.2311C>A (p.Pro771Thr) | |
| 12 | g.109783759T>A | CA481723964 | TRPV4 | c.2478A>T (p.Val826=) c.*1565A>T (n.*1565A>T) c.2376A>T (p.Val792=) c.2298A>T (p.Val766=) c.*861A>T (n.*861A>T) c.2337A>T (p.Val779=) c.2157A>T (p.Val719=) c.2631A>T (p.Val877=) c.2490A>T (p.Val830=) c.2451A>T (p.Val817=) c.2310A>T (p.Val770=) | |
| 12 | g.109783759T>C | CA481723965 | TRPV4 | c.2478A>G (p.Val826=) c.*1565A>G (n.*1565A>G) c.2376A>G (p.Val792=) c.2298A>G (p.Val766=) c.*861A>G (n.*861A>G) c.2337A>G (p.Val779=) c.2157A>G (p.Val719=) c.2631A>G (p.Val877=) c.2490A>G (p.Val830=) c.2451A>G (p.Val817=) c.2310A>G (p.Val770=) | |
| 12 | g.109783759T>G | CA481723966 | TRPV4 | c.2478A>C (p.Val826=) c.*1565A>C (n.*1565A>C) c.2376A>C (p.Val792=) c.2298A>C (p.Val766=) c.*861A>C (n.*861A>C) c.2337A>C (p.Val779=) c.2157A>C (p.Val719=) c.2631A>C (p.Val877=) c.2490A>C (p.Val830=) c.2451A>C (p.Val817=) c.2310A>C (p.Val770=) | |
| 12 | g.109783760A>C | CA386648630 | TRPV4 | c.2477T>G (p.Val826Gly) c.*1564T>G (n.*1564T>G) c.2375T>G (p.Val792Gly) c.2297T>G (p.Val766Gly) c.*860T>G (n.*860T>G) c.2336T>G (p.Val779Gly) c.2156T>G (p.Val719Gly) c.2630T>G (p.Val877Gly) c.2489T>G (p.Val830Gly) c.2450T>G (p.Val817Gly) c.2309T>G (p.Val770Gly) | |
| 12 | g.109783760A>G | CA386648631 | TRPV4 | c.2477T>C (p.Val826Ala) c.*1564T>C (n.*1564T>C) c.2375T>C (p.Val792Ala) c.2297T>C (p.Val766Ala) c.*860T>C (n.*860T>C) c.2336T>C (p.Val779Ala) c.2156T>C (p.Val719Ala) c.2630T>C (p.Val877Ala) c.2489T>C (p.Val830Ala) c.2450T>C (p.Val817Ala) c.2309T>C (p.Val770Ala) | |
| 12 | g.109783760A>T | CA386648629 | TRPV4 | c.2477T>A (p.Val826Glu) c.*1564T>A (n.*1564T>A) c.2375T>A (p.Val792Glu) c.2297T>A (p.Val766Glu) c.*860T>A (n.*860T>A) c.2336T>A (p.Val779Glu) c.2156T>A (p.Val719Glu) c.2630T>A (p.Val877Glu) c.2489T>A (p.Val830Glu) c.2450T>A (p.Val817Glu) c.2309T>A (p.Val770Glu) | |
| 12 | g.109783761C>A | CA386648634 | TRPV4 | c.2476G>T (p.Val826Leu) c.*1563G>T (n.*1563G>T) c.2374G>T (p.Val792Leu) c.2296G>T (p.Val766Leu) c.*859G>T (n.*859G>T) c.2335G>T (p.Val779Leu) c.2155G>T (p.Val719Leu) c.2629G>T (p.Val877Leu) c.2488G>T (p.Val830Leu) c.2449G>T (p.Val817Leu) c.2308G>T (p.Val770Leu) | |
| 12 | g.109783761C>G | CA386648632 | TRPV4 | c.2476G>C (p.Val826Leu) c.*1563G>C (n.*1563G>C) c.2374G>C (p.Val792Leu) c.2296G>C (p.Val766Leu) c.*859G>C (n.*859G>C) c.2335G>C (p.Val779Leu) c.2155G>C (p.Val719Leu) c.2629G>C (p.Val877Leu) c.2488G>C (p.Val830Leu) c.2449G>C (p.Val817Leu) c.2308G>C (p.Val770Leu) | |
| 12 | g.109783761C>T | CA386648633 | TRPV4 | c.2476G>A (p.Val826Ile) c.*1563G>A (n.*1563G>A) c.2374G>A (p.Val792Ile) c.2296G>A (p.Val766Ile) c.*859G>A (n.*859G>A) c.2335G>A (p.Val779Ile) c.2155G>A (p.Val719Ile) c.2629G>A (p.Val877Ile) c.2488G>A (p.Val830Ile) c.2449G>A (p.Val817Ile) c.2308G>A (p.Val770Ile) | gnomAD v4 |
| 12 | g.109783762del | CA2620825466 | TRPV4 | c.2476del (p.Val826TyrfsTer7) c.*1563del (n.*1563del) c.2374del (p.Val792TyrfsTer7) c.2296del (p.Val766TyrfsTer7) c.*859del (n.*859del) c.2335del (p.Val779TyrfsTer7) c.2155del (p.Val719TyrfsTer7) c.2629del (p.Val877TyrfsTer7) c.2488del (p.Val830TyrfsTer7) c.2449del (p.Val817TyrfsTer7) c.2308del (p.Val770TyrfsTer7) | gnomAD v4 |
| 12 | g.109783762C>A | CA481723967 | TRPV4 | c.2475G>T (p.Val825=) c.*1562G>T (n.*1562G>T) c.2373G>T (p.Val791=) c.2295G>T (p.Val765=) c.*858G>T (n.*858G>T) c.2334G>T (p.Val778=) c.2154G>T (p.Val718=) c.2628G>T (p.Val876=) c.2487G>T (p.Val829=) c.2448G>T (p.Val816=) c.2307G>T (p.Val769=) | gnomAD v4 |
| 12 | g.109783762C>G | CA481723968 | TRPV4 | c.2475G>C (p.Val825=) c.*1562G>C (n.*1562G>C) c.2373G>C (p.Val791=) c.2295G>C (p.Val765=) c.*858G>C (n.*858G>C) c.2334G>C (p.Val778=) c.2154G>C (p.Val718=) c.2628G>C (p.Val876=) c.2487G>C (p.Val829=) c.2448G>C (p.Val816=) c.2307G>C (p.Val769=) | gnomAD v4 |
| 12 | g.109783762C>T | CA481723969 | TRPV4 | c.2475G>A (p.Val825=) c.*1562G>A (n.*1562G>A) c.2373G>A (p.Val791=) c.2295G>A (p.Val765=) c.*858G>A (n.*858G>A) c.2334G>A (p.Val778=) c.2154G>A (p.Val718=) c.2628G>A (p.Val876=) c.2487G>A (p.Val829=) c.2448G>A (p.Val816=) c.2307G>A (p.Val769=) | |
| 12 | g.109783763A>C | CA386648635 | TRPV4 | c.2474T>G (p.Val825Gly) c.*1561T>G (n.*1561T>G) c.2372T>G (p.Val791Gly) c.2294T>G (p.Val765Gly) c.*857T>G (n.*857T>G) c.2333T>G (p.Val778Gly) c.2153T>G (p.Val718Gly) c.2627T>G (p.Val876Gly) c.2486T>G (p.Val829Gly) c.2447T>G (p.Val816Gly) c.2306T>G (p.Val769Gly) | |
| 12 | g.109783763A>G | CA386648636 | TRPV4 | c.2474T>C (p.Val825Ala) c.*1561T>C (n.*1561T>C) c.2372T>C (p.Val791Ala) c.2294T>C (p.Val765Ala) c.*857T>C (n.*857T>C) c.2333T>C (p.Val778Ala) c.2153T>C (p.Val718Ala) c.2627T>C (p.Val876Ala) c.2486T>C (p.Val829Ala) c.2447T>C (p.Val816Ala) c.2306T>C (p.Val769Ala) | |
| 12 | g.109783763A>T | CA386648637 | TRPV4 | c.2474T>A (p.Val825Glu) c.*1561T>A (n.*1561T>A) c.2372T>A (p.Val791Glu) c.2294T>A (p.Val765Glu) c.*857T>A (n.*857T>A) c.2333T>A (p.Val778Glu) c.2153T>A (p.Val718Glu) c.2627T>A (p.Val876Glu) c.2486T>A (p.Val829Glu) c.2447T>A (p.Val816Glu) c.2306T>A (p.Val769Glu) | |
| 12 | g.109783764C>A | CA386648638 | TRPV4 | c.2473G>T (p.Val825Leu) c.*1560G>T (n.*1560G>T) c.2371G>T (p.Val791Leu) c.2293G>T (p.Val765Leu) c.*856G>T (n.*856G>T) c.2332G>T (p.Val778Leu) c.2152G>T (p.Val718Leu) c.2626G>T (p.Val876Leu) c.2485G>T (p.Val829Leu) c.2446G>T (p.Val816Leu) c.2305G>T (p.Val769Leu) | |
| 12 | g.109783764C= | CA2062557406 | TRPV4 | c.2473G= (p.Val825=) c.*1560G= (n.*1560G=) c.2371G= (p.Val791=) c.2293G= (p.Val765=) c.*856G= (n.*856G=) c.2332G= (p.Val778=) c.2152G= (p.Val718=) c.2626G= (p.Val876=) c.2485G= (p.Val829=) c.2446G= (p.Val816=) c.2305G= (p.Val769=) | |
| 12 | g.109783764C>G | CA386648639 | TRPV4 | c.2473G>C (p.Val825Leu) c.*1560G>C (n.*1560G>C) c.2371G>C (p.Val791Leu) c.2293G>C (p.Val765Leu) c.*856G>C (n.*856G>C) c.2332G>C (p.Val778Leu) c.2152G>C (p.Val718Leu) c.2626G>C (p.Val876Leu) c.2485G>C (p.Val829Leu) c.2446G>C (p.Val816Leu) c.2305G>C (p.Val769Leu) | ClinVar dbSNP |
| 12 | g.109783764C>T | CA386648640 | TRPV4 | c.2473G>A (p.Val825Met) c.*1560G>A (n.*1560G>A) c.2371G>A (p.Val791Met) c.2293G>A (p.Val765Met) c.*856G>A (n.*856G>A) c.2332G>A (p.Val778Met) c.2152G>A (p.Val718Met) c.2626G>A (p.Val876Met) c.2485G>A (p.Val829Met) c.2446G>A (p.Val816Met) c.2305G>A (p.Val769Met) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109783765C>A | CA481723970 | TRPV4 | c.2472G>T (p.Ser824=) c.*1559G>T (n.*1559G>T) c.2370G>T (p.Ser790=) c.2292G>T (p.Ser764=) c.*855G>T (n.*855G>T) c.2331G>T (p.Ser777=) c.2151G>T (p.Ser717=) c.2625G>T (p.Ser875=) c.2484G>T (p.Ser828=) c.2445G>T (p.Ser815=) c.2304G>T (p.Ser768=) | gnomAD v4 |
| 12 | g.109783765C= | CA2062557407 | TRPV4 | c.2472G= (p.Ser824=) c.*1559G= (n.*1559G=) c.2370G= (p.Ser790=) c.2292G= (p.Ser764=) c.*855G= (n.*855G=) c.2331G= (p.Ser777=) c.2151G= (p.Ser717=) c.2625G= (p.Ser875=) c.2484G= (p.Ser828=) c.2445G= (p.Ser815=) c.2304G= (p.Ser768=) | |
| 12 | g.109783765C>G | CA481723971 | TRPV4 | c.2472G>C (p.Ser824=) c.*1559G>C (n.*1559G>C) c.2370G>C (p.Ser790=) c.2292G>C (p.Ser764=) c.*855G>C (n.*855G>C) c.2331G>C (p.Ser777=) c.2151G>C (p.Ser717=) c.2625G>C (p.Ser875=) c.2484G>C (p.Ser828=) c.2445G>C (p.Ser815=) c.2304G>C (p.Ser768=) | gnomAD v4 |
| 12 | g.109783765C>T | CA6779880 | TRPV4 | c.2472G>A (p.Ser824=) c.*1559G>A (n.*1559G>A) c.2370G>A (p.Ser790=) c.2292G>A (p.Ser764=) c.*855G>A (n.*855G>A) c.2331G>A (p.Ser777=) c.2151G>A (p.Ser717=) c.2625G>A (p.Ser875=) c.2484G>A (p.Ser828=) c.2445G>A (p.Ser815=) c.2304G>A (p.Ser768=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109783766G>A | CA6779881 | TRPV4 | c.2471C>T (p.Ser824Leu) c.*1558C>T (n.*1558C>T) c.2369C>T (p.Ser790Leu) c.2291C>T (p.Ser764Leu) c.*854C>T (n.*854C>T) c.2330C>T (p.Ser777Leu) c.2150C>T (p.Ser717Leu) c.2624C>T (p.Ser875Leu) c.2483C>T (p.Ser828Leu) c.2444C>T (p.Ser815Leu) c.2303C>T (p.Ser768Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109783766G>C | CA386648641 | TRPV4 | c.2471C>G (p.Ser824Trp) c.*1558C>G (n.*1558C>G) c.2369C>G (p.Ser790Trp) c.2291C>G (p.Ser764Trp) c.*854C>G (n.*854C>G) c.2330C>G (p.Ser777Trp) c.2150C>G (p.Ser717Trp) c.2624C>G (p.Ser875Trp) c.2483C>G (p.Ser828Trp) c.2444C>G (p.Ser815Trp) c.2303C>G (p.Ser768Trp) | |
| 12 | g.109783766G= | CA2062557408 | TRPV4 | c.2471C= (p.Ser824=) c.*1558C= (n.*1558C=) c.2369C= (p.Ser790=) c.2291C= (p.Ser764=) c.*854C= (n.*854C=) c.2330C= (p.Ser777=) c.2150C= (p.Ser717=) c.2624C= (p.Ser875=) c.2483C= (p.Ser828=) c.2444C= (p.Ser815=) c.2303C= (p.Ser768=) | |
| 12 | g.109783766G>T | CA386648642 | TRPV4 | c.2471C>A (p.Ser824Ter) c.*1558C>A (n.*1558C>A) c.2369C>A (p.Ser790Ter) c.2291C>A (p.Ser764Ter) c.*854C>A (n.*854C>A) c.2330C>A (p.Ser777Ter) c.2150C>A (p.Ser717Ter) c.2624C>A (p.Ser875Ter) c.2483C>A (p.Ser828Ter) c.2444C>A (p.Ser815Ter) c.2303C>A (p.Ser768Ter) |