| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.5887403C>A | CA116181 | NPHP4 | c.2368G>T (p.Glu790Ter) c.*1269G>T (n.*1269G>T) c.597G>T n.2100G>T c.2365G>T (p.Glu789Ter) c.829G>T (p.Glu277Ter) c.832G>T (p.Glu278Ter) n.2633G>T c.2257G>T (p.Glu753Ter) c.2314G>T (p.Glu772Ter) n.2406G>T n.2245G>T c.1840G>T (p.Glu614Ter) c.1570G>T (p.Glu524Ter) n.2585G>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.5887403C= | CA1141580546 | NPHP4 | c.2368G= (p.Glu790=) c.*1269G= (n.*1269G=) c.597G= n.2100G= c.2365G= (p.Glu789=) c.829G= (p.Glu277=) c.832G= (p.Glu278=) n.2633G= c.2257G= (p.Glu753=) c.2314G= (p.Glu772=) n.2406G= n.2245G= c.1840G= (p.Glu614=) c.1570G= (p.Glu524=) n.2585G= | |
| 1 | g.5887403C>G | CA338058755 | NPHP4 | c.2368G>C (p.Glu790Gln) c.*1269G>C (n.*1269G>C) c.597G>C n.2100G>C c.2365G>C (p.Glu789Gln) c.829G>C (p.Glu277Gln) c.832G>C (p.Glu278Gln) n.2633G>C c.2257G>C (p.Glu753Gln) c.2314G>C (p.Glu772Gln) n.2406G>C n.2245G>C c.1840G>C (p.Glu614Gln) c.1570G>C (p.Glu524Gln) n.2585G>C | |
| 1 | g.5887403C>T | CA338058756 | NPHP4 | c.2368G>A (p.Glu790Lys) c.*1269G>A (n.*1269G>A) c.597G>A n.2100G>A c.2365G>A (p.Glu789Lys) c.829G>A (p.Glu277Lys) c.832G>A (p.Glu278Lys) n.2633G>A c.2257G>A (p.Glu753Lys) c.2314G>A (p.Glu772Lys) n.2406G>A n.2245G>A c.1840G>A (p.Glu614Lys) c.1570G>A (p.Glu524Lys) n.2585G>A | |
| 1 | g.5887404A>C | CA415790553 | NPHP4 | c.2367T>G (p.Thr789=) c.*1268T>G (n.*1268T>G) c.596T>G n.2099T>G c.2364T>G (p.Thr788=) c.828T>G (p.Thr276=) c.831T>G (p.Thr277=) n.2632T>G c.2256T>G (p.Thr752=) c.2313T>G (p.Thr771=) n.2405T>G n.2244T>G c.1839T>G (p.Thr613=) c.1569T>G (p.Thr523=) n.2584T>G | |
| 1 | g.5887404A>G | CA415790554 | NPHP4 | c.2367T>C (p.Thr789=) c.*1268T>C (n.*1268T>C) c.596T>C n.2099T>C c.2364T>C (p.Thr788=) c.828T>C (p.Thr276=) c.831T>C (p.Thr277=) n.2632T>C c.2256T>C (p.Thr752=) c.2313T>C (p.Thr771=) n.2405T>C n.2244T>C c.1839T>C (p.Thr613=) c.1569T>C (p.Thr523=) n.2584T>C | |
| 1 | g.5887404A>T | CA415790555 | NPHP4 | c.2367T>A (p.Thr789=) c.*1268T>A (n.*1268T>A) c.596T>A n.2099T>A c.2364T>A (p.Thr788=) c.828T>A (p.Thr276=) c.831T>A (p.Thr277=) n.2632T>A c.2256T>A (p.Thr752=) c.2313T>A (p.Thr771=) n.2405T>A n.2244T>A c.1839T>A (p.Thr613=) c.1569T>A (p.Thr523=) n.2584T>A | |
| 1 | g.5887405G>A | CA338058757 | NPHP4 | c.2366C>T (p.Thr789Ile) c.*1267C>T (n.*1267C>T) c.595C>T n.2098C>T c.2363C>T (p.Thr788Ile) c.827C>T (p.Thr276Ile) c.830C>T (p.Thr277Ile) n.2631C>T c.2255C>T (p.Thr752Ile) c.2312C>T (p.Thr771Ile) n.2404C>T n.2243C>T c.1838C>T (p.Thr613Ile) c.1568C>T (p.Thr523Ile) n.2583C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.5887405G>C | CA338058758 | NPHP4 | c.2366C>G (p.Thr789Ser) c.*1267C>G (n.*1267C>G) c.595C>G n.2098C>G c.2363C>G (p.Thr788Ser) c.827C>G (p.Thr276Ser) c.830C>G (p.Thr277Ser) n.2631C>G c.2255C>G (p.Thr752Ser) c.2312C>G (p.Thr771Ser) n.2404C>G n.2243C>G c.1838C>G (p.Thr613Ser) c.1568C>G (p.Thr523Ser) n.2583C>G | |
| 1 | g.5887405G= | CA1151225329 | NPHP4 | c.2366C= (p.Thr789=) c.*1267C= (n.*1267C=) c.595C= n.2098C= c.2363C= (p.Thr788=) c.827C= (p.Thr276=) c.830C= (p.Thr277=) n.2631C= c.2255C= (p.Thr752=) c.2312C= (p.Thr771=) n.2404C= n.2243C= c.1838C= (p.Thr613=) c.1568C= (p.Thr523=) n.2583C= | |
| 1 | g.5887405G>T | CA338058759 | NPHP4 | c.2366C>A (p.Thr789Asn) c.*1267C>A (n.*1267C>A) c.595C>A n.2098C>A c.2363C>A (p.Thr788Asn) c.827C>A (p.Thr276Asn) c.830C>A (p.Thr277Asn) n.2631C>A c.2255C>A (p.Thr752Asn) c.2312C>A (p.Thr771Asn) n.2404C>A n.2243C>A c.1838C>A (p.Thr613Asn) c.1568C>A (p.Thr523Asn) n.2583C>A | |
| 1 | g.5887406T>A | CA338058760 | NPHP4 | c.2365A>T (p.Thr789Ser) c.*1266A>T (n.*1266A>T) c.594A>T n.2097A>T c.2362A>T (p.Thr788Ser) c.826A>T (p.Thr276Ser) c.829A>T (p.Thr277Ser) n.2630A>T c.2254A>T (p.Thr752Ser) c.2311A>T (p.Thr771Ser) n.2403A>T n.2242A>T c.1837A>T (p.Thr613Ser) c.1567A>T (p.Thr523Ser) n.2582A>T | gnomAD v4 |
| 1 | g.5887406T>C | CA338058761 | NPHP4 | c.2365A>G (p.Thr789Ala) c.*1266A>G (n.*1266A>G) c.594A>G n.2097A>G c.2362A>G (p.Thr788Ala) c.826A>G (p.Thr276Ala) c.829A>G (p.Thr277Ala) n.2630A>G c.2254A>G (p.Thr752Ala) c.2311A>G (p.Thr771Ala) n.2403A>G n.2242A>G c.1837A>G (p.Thr613Ala) c.1567A>G (p.Thr523Ala) n.2582A>G | dbSNP |
| 1 | g.5887406T>G | CA338058762 | NPHP4 | c.2365A>C (p.Thr789Pro) c.*1266A>C (n.*1266A>C) c.594A>C n.2097A>C c.2362A>C (p.Thr788Pro) c.826A>C (p.Thr276Pro) c.829A>C (p.Thr277Pro) n.2630A>C c.2254A>C (p.Thr752Pro) c.2311A>C (p.Thr771Pro) n.2403A>C n.2242A>C c.1837A>C (p.Thr613Pro) c.1567A>C (p.Thr523Pro) n.2582A>C | |
| 1 | g.5887406T= | CA1151225333 | NPHP4 | c.2365A= (p.Thr789=) c.*1266A= (n.*1266A=) c.594A= n.2097A= c.2362A= (p.Thr788=) c.826A= (p.Thr276=) c.829A= (p.Thr277=) n.2630A= c.2254A= (p.Thr752=) c.2311A= (p.Thr771=) n.2403A= n.2242A= c.1837A= (p.Thr613=) c.1567A= (p.Thr523=) n.2582A= | |
| 1 | g.5887407T>A | CA415790556 | NPHP4 | c.2364A>T (p.Ala788=) c.*1265A>T (n.*1265A>T) c.593A>T n.2096A>T c.2361A>T (p.Ala787=) c.825A>T (p.Ala275=) c.828A>T (p.Ala276=) n.2629A>T c.2253A>T (p.Ala751=) c.2310A>T (p.Ala770=) n.2402A>T n.2241A>T c.1836A>T (p.Ala612=) c.1566A>T (p.Ala522=) n.2581A>T | |
| 1 | g.5887407T>C | CA415790557 | NPHP4 | c.2364A>G (p.Ala788=) c.*1265A>G (n.*1265A>G) c.593A>G n.2096A>G c.2361A>G (p.Ala787=) c.825A>G (p.Ala275=) c.828A>G (p.Ala276=) n.2629A>G c.2253A>G (p.Ala751=) c.2310A>G (p.Ala770=) n.2402A>G n.2241A>G c.1836A>G (p.Ala612=) c.1566A>G (p.Ala522=) n.2581A>G | gnomAD v4 |
| 1 | g.5887407T>G | CA415790558 | NPHP4 | c.2364A>C (p.Ala788=) c.*1265A>C (n.*1265A>C) c.593A>C n.2096A>C c.2361A>C (p.Ala787=) c.825A>C (p.Ala275=) c.828A>C (p.Ala276=) n.2629A>C c.2253A>C (p.Ala751=) c.2310A>C (p.Ala770=) n.2402A>C n.2241A>C c.1836A>C (p.Ala612=) c.1566A>C (p.Ala522=) n.2581A>C | |
| 1 | g.5887408G>A | CA338058765 | NPHP4 | c.2363C>T (p.Ala788Val) c.*1264C>T (n.*1264C>T) c.592C>T n.2095C>T c.2360C>T (p.Ala787Val) c.824C>T (p.Ala275Val) c.827C>T (p.Ala276Val) n.2628C>T c.2252C>T (p.Ala751Val) c.2309C>T (p.Ala770Val) n.2401C>T n.2240C>T c.1835C>T (p.Ala612Val) c.1565C>T (p.Ala522Val) n.2580C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.5887408G>C | CA338058764 | NPHP4 | c.2363C>G (p.Ala788Gly) c.*1264C>G (n.*1264C>G) c.592C>G n.2095C>G c.2360C>G (p.Ala787Gly) c.824C>G (p.Ala275Gly) c.827C>G (p.Ala276Gly) n.2628C>G c.2252C>G (p.Ala751Gly) c.2309C>G (p.Ala770Gly) n.2401C>G n.2240C>G c.1835C>G (p.Ala612Gly) c.1565C>G (p.Ala522Gly) n.2580C>G | |
| 1 | g.5887408G= | CA1151225335 | NPHP4 | c.2363C= (p.Ala788=) c.*1264C= (n.*1264C=) c.592C= n.2095C= c.2360C= (p.Ala787=) c.824C= (p.Ala275=) c.827C= (p.Ala276=) n.2628C= c.2252C= (p.Ala751=) c.2309C= (p.Ala770=) n.2401C= n.2240C= c.1835C= (p.Ala612=) c.1565C= (p.Ala522=) n.2580C= | |
| 1 | g.5887408G>T | CA338058763 | NPHP4 | c.2363C>A (p.Ala788Glu) c.*1264C>A (n.*1264C>A) c.592C>A n.2095C>A c.2360C>A (p.Ala787Glu) c.824C>A (p.Ala275Glu) c.827C>A (p.Ala276Glu) n.2628C>A c.2252C>A (p.Ala751Glu) c.2309C>A (p.Ala770Glu) n.2401C>A n.2240C>A c.1835C>A (p.Ala612Glu) c.1565C>A (p.Ala522Glu) n.2580C>A | |
| 1 | g.5887409C>A | CA338058766 | NPHP4 | c.2362G>T (p.Ala788Ser) c.*1263G>T (n.*1263G>T) c.591G>T n.2094G>T c.2359G>T (p.Ala787Ser) c.823G>T (p.Ala275Ser) c.826G>T (p.Ala276Ser) n.2627G>T c.2251G>T (p.Ala751Ser) c.2308G>T (p.Ala770Ser) n.2400G>T n.2239G>T c.1834G>T (p.Ala612Ser) c.1564G>T (p.Ala522Ser) n.2579G>T | |
| 1 | g.5887409C>G | CA338058767 | NPHP4 | c.2362G>C (p.Ala788Pro) c.*1263G>C (n.*1263G>C) c.591G>C n.2094G>C c.2359G>C (p.Ala787Pro) c.823G>C (p.Ala275Pro) c.826G>C (p.Ala276Pro) n.2627G>C c.2251G>C (p.Ala751Pro) c.2308G>C (p.Ala770Pro) n.2400G>C n.2239G>C c.1834G>C (p.Ala612Pro) c.1564G>C (p.Ala522Pro) n.2579G>C | |
| 1 | g.5887409C>T | CA338058768 | NPHP4 | c.2362G>A (p.Ala788Thr) c.*1263G>A (n.*1263G>A) c.591G>A n.2094G>A c.2359G>A (p.Ala787Thr) c.823G>A (p.Ala275Thr) c.826G>A (p.Ala276Thr) n.2627G>A c.2251G>A (p.Ala751Thr) c.2308G>A (p.Ala770Thr) n.2400G>A n.2239G>A c.1834G>A (p.Ala612Thr) c.1564G>A (p.Ala522Thr) n.2579G>A | |
| 1 | g.5887410C>A | CA415790560 | NPHP4 | c.2361G>T (p.Val787=) c.*1262G>T (n.*1262G>T) c.590G>T n.2093G>T c.2358G>T (p.Val786=) c.822G>T (p.Val274=) c.825G>T (p.Val275=) n.2626G>T c.2250G>T (p.Val750=) c.2307G>T (p.Val769=) n.2399G>T n.2238G>T c.1833G>T (p.Val611=) c.1563G>T (p.Val521=) n.2578G>T | |
| 1 | g.5887410C= | CA1151225339 | NPHP4 | c.2361G= (p.Val787=) c.*1262G= (n.*1262G=) c.590G= n.2093G= c.2358G= (p.Val786=) c.822G= (p.Val274=) c.825G= (p.Val275=) n.2626G= c.2250G= (p.Val750=) c.2307G= (p.Val769=) n.2399G= n.2238G= c.1833G= (p.Val611=) c.1563G= (p.Val521=) n.2578G= | |
| 1 | g.5887410C>G | CA415790561 | NPHP4 | c.2361G>C (p.Val787=) c.*1262G>C (n.*1262G>C) c.590G>C n.2093G>C c.2358G>C (p.Val786=) c.822G>C (p.Val274=) c.825G>C (p.Val275=) n.2626G>C c.2250G>C (p.Val750=) c.2307G>C (p.Val769=) n.2399G>C n.2238G>C c.1833G>C (p.Val611=) c.1563G>C (p.Val521=) n.2578G>C | |
| 1 | g.5887410C>T | CA415790559 | NPHP4 | c.2361G>A (p.Val787=) c.*1262G>A (n.*1262G>A) c.590G>A n.2093G>A c.2358G>A (p.Val786=) c.822G>A (p.Val274=) c.825G>A (p.Val275=) n.2626G>A c.2250G>A (p.Val750=) c.2307G>A (p.Val769=) n.2399G>A n.2238G>A c.1833G>A (p.Val611=) c.1563G>A (p.Val521=) n.2578G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.5887410_5887413delinsCACG | CA1151225338 | NPHP4 | c.2358_2361delinsCGTG (p.Val786=) c.*1259_*1262delinsCGTG (n.*1259_*1262delinsCGTG) c.587_590delinsCGTG n.2090_2093delinsCGTG c.2355_2358delinsCGTG (p.Val785=) c.819_822delinsCGTG (p.Val273=) c.822_825delinsCGTG (p.Val274=) n.2623_2626delinsCGTG c.2247_2250delinsCGTG (p.Val749=) c.2304_2307delinsCGTG (p.Val768=) n.2396_2399delinsCGTG n.2235_2238delinsCGTG c.1830_1833delinsCGTG (p.Val610=) c.1560_1563delinsCGTG (p.Val520=) n.2575_2578delinsCGTG | |
| 1 | g.5887411A= | CA1148224165 | NPHP4 | c.2360T= (p.Val787=) c.*1261T= (n.*1261T=) c.589T= n.2092T= c.2357T= (p.Val786=) c.821T= (p.Val274=) c.824T= (p.Val275=) n.2625T= c.2249T= (p.Val750=) c.2306T= (p.Val769=) n.2398T= n.2237T= c.1832T= (p.Val611=) c.1562T= (p.Val521=) n.2577T= | |
| 1 | g.5887411A>C | CA338058769 | NPHP4 | c.2360T>G (p.Val787Gly) c.*1261T>G (n.*1261T>G) c.589T>G n.2092T>G c.2357T>G (p.Val786Gly) c.821T>G (p.Val274Gly) c.824T>G (p.Val275Gly) n.2625T>G c.2249T>G (p.Val750Gly) c.2306T>G (p.Val769Gly) n.2398T>G n.2237T>G c.1832T>G (p.Val611Gly) c.1562T>G (p.Val521Gly) n.2577T>G | |
| 1 | g.5887411A>G | CA338058770 | NPHP4 | c.2360T>C (p.Val787Ala) c.*1261T>C (n.*1261T>C) c.589T>C n.2092T>C c.2357T>C (p.Val786Ala) c.821T>C (p.Val274Ala) c.824T>C (p.Val275Ala) n.2625T>C c.2249T>C (p.Val750Ala) c.2306T>C (p.Val769Ala) n.2398T>C n.2237T>C c.1832T>C (p.Val611Ala) c.1562T>C (p.Val521Ala) n.2577T>C | |
| 1 | g.5887411A>T | CA270796 | NPHP4 | c.2360T>A (p.Val787Glu) c.*1261T>A (n.*1261T>A) c.589T>A n.2092T>A c.2357T>A (p.Val786Glu) c.821T>A (p.Val274Glu) c.824T>A (p.Val275Glu) n.2625T>A c.2249T>A (p.Val750Glu) c.2306T>A (p.Val769Glu) n.2398T>A n.2237T>A c.1832T>A (p.Val611Glu) c.1562T>A (p.Val521Glu) n.2577T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.5887413_5887415del | CA554142 | NPHP4 | c.2358_2360del (p.Val787del) c.*1259_*1261del (n.*1259_*1261del) c.587_589del n.2090_2092del c.2355_2357del (p.Val786del) c.819_821del (p.Val274del) c.822_824del (p.Val275del) n.2623_2625del c.2247_2249del (p.Val750del) c.2304_2306del (p.Val769del) n.2396_2398del n.2235_2237del c.1830_1832del (p.Val611del) c.1560_1562del (p.Val521del) n.2575_2577del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.5887412C>A | CA338058771 | NPHP4 | c.2359G>T (p.Val787Leu) c.*1260G>T (n.*1260G>T) c.588G>T n.2091G>T c.2356G>T (p.Val786Leu) c.820G>T (p.Val274Leu) c.823G>T (p.Val275Leu) n.2624G>T c.2248G>T (p.Val750Leu) c.2305G>T (p.Val769Leu) n.2397G>T n.2236G>T c.1831G>T (p.Val611Leu) c.1561G>T (p.Val521Leu) n.2576G>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.5887412C= | CA1151225350 | NPHP4 | c.2359G= (p.Val787=) c.*1260G= (n.*1260G=) c.588G= n.2091G= c.2356G= (p.Val786=) c.820G= (p.Val274=) c.823G= (p.Val275=) n.2624G= c.2248G= (p.Val750=) c.2305G= (p.Val769=) n.2397G= n.2236G= c.1831G= (p.Val611=) c.1561G= (p.Val521=) n.2576G= | |
| 1 | g.5887412C>G | CA338058772 | NPHP4 | c.2359G>C (p.Val787Leu) c.*1260G>C (n.*1260G>C) c.588G>C n.2091G>C c.2356G>C (p.Val786Leu) c.820G>C (p.Val274Leu) c.823G>C (p.Val275Leu) n.2624G>C c.2248G>C (p.Val750Leu) c.2305G>C (p.Val769Leu) n.2397G>C n.2236G>C c.1831G>C (p.Val611Leu) c.1561G>C (p.Val521Leu) n.2576G>C | |
| 1 | g.5887412C>T | CA554143 | NPHP4 | c.2359G>A (p.Val787Met) c.*1260G>A (n.*1260G>A) c.588G>A n.2091G>A c.2356G>A (p.Val786Met) c.820G>A (p.Val274Met) c.823G>A (p.Val275Met) n.2624G>A c.2248G>A (p.Val750Met) c.2305G>A (p.Val769Met) n.2397G>A n.2236G>A c.1831G>A (p.Val611Met) c.1561G>A (p.Val521Met) n.2576G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.5887413G>A | CA554144 | NPHP4 | c.2358C>T (p.Val786=) c.*1259C>T (n.*1259C>T) c.587C>T n.2090C>T c.2355C>T (p.Val785=) c.819C>T (p.Val273=) c.822C>T (p.Val274=) n.2623C>T c.2247C>T (p.Val749=) c.2304C>T (p.Val768=) n.2396C>T n.2235C>T c.1830C>T (p.Val610=) c.1560C>T (p.Val520=) n.2575C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.5887413G>C | CA415790563 | NPHP4 | c.2358C>G (p.Val786=) c.*1259C>G (n.*1259C>G) c.587C>G n.2090C>G c.2355C>G (p.Val785=) c.819C>G (p.Val273=) c.822C>G (p.Val274=) n.2623C>G c.2247C>G (p.Val749=) c.2304C>G (p.Val768=) n.2396C>G n.2235C>G c.1830C>G (p.Val610=) c.1560C>G (p.Val520=) n.2575C>G | |
| 1 | g.5887413G= | CA1143809395 | NPHP4 | c.2358C= (p.Val786=) c.*1259C= (n.*1259C=) c.587C= n.2090C= c.2355C= (p.Val785=) c.819C= (p.Val273=) c.822C= (p.Val274=) n.2623C= c.2247C= (p.Val749=) c.2304C= (p.Val768=) n.2396C= n.2235C= c.1830C= (p.Val610=) c.1560C= (p.Val520=) n.2575C= | |
| 1 | g.5887413G>T | CA415790564 | NPHP4 | c.2358C>A (p.Val786=) c.*1259C>A (n.*1259C>A) c.587C>A n.2090C>A c.2355C>A (p.Val785=) c.819C>A (p.Val273=) c.822C>A (p.Val274=) n.2623C>A c.2247C>A (p.Val749=) c.2304C>A (p.Val768=) n.2396C>A n.2235C>A c.1830C>A (p.Val610=) c.1560C>A (p.Val520=) n.2575C>A | |
| 1 | g.5887414A= | CA1151225353 | NPHP4 | c.2357T= (p.Val786=) c.*1258T= (n.*1258T=) c.586T= n.2089T= c.2354T= (p.Val785=) c.818T= (p.Val273=) c.821T= (p.Val274=) n.2622T= c.2246T= (p.Val749=) c.2303T= (p.Val768=) n.2395T= n.2234T= c.1829T= (p.Val610=) c.1559T= (p.Val520=) n.2574T= | |
| 1 | g.5887414A>C | CA338058775 | NPHP4 | c.2357T>G (p.Val786Gly) c.*1258T>G (n.*1258T>G) c.586T>G n.2089T>G c.2354T>G (p.Val785Gly) c.818T>G (p.Val273Gly) c.821T>G (p.Val274Gly) n.2622T>G c.2246T>G (p.Val749Gly) c.2303T>G (p.Val768Gly) n.2395T>G n.2234T>G c.1829T>G (p.Val610Gly) c.1559T>G (p.Val520Gly) n.2574T>G | dbSNP |
| 1 | g.5887414A>G | CA338058774 | NPHP4 | c.2357T>C (p.Val786Ala) c.*1258T>C (n.*1258T>C) c.586T>C n.2089T>C c.2354T>C (p.Val785Ala) c.818T>C (p.Val273Ala) c.821T>C (p.Val274Ala) n.2622T>C c.2246T>C (p.Val749Ala) c.2303T>C (p.Val768Ala) n.2395T>C n.2234T>C c.1829T>C (p.Val610Ala) c.1559T>C (p.Val520Ala) n.2574T>C | COSMIC |
| 1 | g.5887414A>T | CA338058773 | NPHP4 | c.2357T>A (p.Val786Asp) c.*1258T>A (n.*1258T>A) c.586T>A n.2089T>A c.2354T>A (p.Val785Asp) c.818T>A (p.Val273Asp) c.821T>A (p.Val274Asp) n.2622T>A c.2246T>A (p.Val749Asp) c.2303T>A (p.Val768Asp) n.2395T>A n.2234T>A c.1829T>A (p.Val610Asp) c.1559T>A (p.Val520Asp) n.2574T>A | |
| 1 | g.5887415C>A | CA338058776 | NPHP4 | c.2356G>T (p.Val786Phe) c.*1257G>T (n.*1257G>T) c.585G>T n.2088G>T c.2353G>T (p.Val785Phe) c.817G>T (p.Val273Phe) c.820G>T (p.Val274Phe) n.2621G>T c.2245G>T (p.Val749Phe) c.2302G>T (p.Val768Phe) n.2394G>T n.2233G>T c.1828G>T (p.Val610Phe) c.1558G>T (p.Val520Phe) n.2573G>T | |
| 1 | g.5887415C>G | CA338058778 | NPHP4 | c.2356G>C (p.Val786Leu) c.*1257G>C (n.*1257G>C) c.585G>C n.2088G>C c.2353G>C (p.Val785Leu) c.817G>C (p.Val273Leu) c.820G>C (p.Val274Leu) n.2621G>C c.2245G>C (p.Val749Leu) c.2302G>C (p.Val768Leu) n.2394G>C n.2233G>C c.1828G>C (p.Val610Leu) c.1558G>C (p.Val520Leu) n.2573G>C | |
| 1 | g.5887415C>T | CA338058777 | NPHP4 | c.2356G>A (p.Val786Ile) c.*1257G>A (n.*1257G>A) c.585G>A n.2088G>A c.2353G>A (p.Val785Ile) c.817G>A (p.Val273Ile) c.820G>A (p.Val274Ile) n.2621G>A c.2245G>A (p.Val749Ile) c.2302G>A (p.Val768Ile) n.2394G>A n.2233G>A c.1828G>A (p.Val610Ile) c.1558G>A (p.Val520Ile) n.2573G>A |