Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.88733731C>A | CA397112468 | HSALR1,PIEZO1 | c.2344G>T (p.Gly782Cys) n.269+2283C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733731C= | CA2241262079 | HSALR1,PIEZO1 | c.2344G= (p.Gly782=) n.269+2283C= | |
16 | g.88733731C>G | CA397112469 | HSALR1,PIEZO1 | c.2344G>C (p.Gly782Arg) n.269+2283C>G | |
16 | g.88733731C>T | CA082796 | HSALR1,PIEZO1 | c.2344G>A (p.Gly782Ser) n.269+2283C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.88733732C>A | CA397112471 | HSALR1,PIEZO1 | c.2343G>T (p.Trp781Cys) n.269+2284C>A | |
16 | g.88733732C= | CA2241262080 | HSALR1,PIEZO1 | c.2343G= (p.Trp781=) n.269+2284C= | |
16 | g.88733732C>G | CA397112473 | HSALR1,PIEZO1 | c.2343G>C (p.Trp781Cys) n.269+2284C>G | gnomAD v4 |
16 | g.88733732C>T | CA397112474 | HSALR1,PIEZO1 | c.2343G>A (p.Trp781Ter) n.269+2284C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733733C>A | CA397112476 | HSALR1,PIEZO1 | c.2342G>T (p.Trp781Leu) n.269+2285C>A | gnomAD v4 |
16 | g.88733733C>G | CA397112477 | HSALR1,PIEZO1 | c.2342G>C (p.Trp781Ser) n.269+2285C>G | |
16 | g.88733733C>T | CA397112478 | HSALR1,PIEZO1 | c.2342G>A (p.Trp781Ter) n.269+2285C>T | gnomAD v4 |
16 | g.88733734A>C | CA397112480 | HSALR1,PIEZO1 | c.2341T>G (p.Trp781Gly) n.269+2286A>C | |
16 | g.88733734A>G | CA397112482 | HSALR1,PIEZO1 | c.2341T>C (p.Trp781Arg) n.269+2286A>G | gnomAD v4 |
16 | g.88733734A>T | CA397112483 | HSALR1,PIEZO1 | c.2341T>A (p.Trp781Arg) n.269+2286A>T | gnomAD v4 |
16 | g.88733735C>A | CA397112485 | HSALR1,PIEZO1 | c.2340G>T (p.Lys780Asn) n.269+2287C>A | gnomAD v4 |
16 | g.88733735C>G | CA397112487 | HSALR1,PIEZO1 | c.2340G>C (p.Lys780Asn) n.269+2287C>G | gnomAD v4 |
16 | g.88733735C>T | CA497366537 | HSALR1,PIEZO1 | c.2340G>A (p.Lys780=) n.269+2287C>T | |
16 | g.88733736T>A | CA397112490 | HSALR1,PIEZO1 | c.2339A>T (p.Lys780Met) n.269+2288T>A | |
16 | g.88733736T>C | CA397112492 | HSALR1,PIEZO1 | c.2339A>G (p.Lys780Arg) n.269+2288T>C | |
16 | g.88733736T>G | CA397112489 | HSALR1,PIEZO1 | c.2339A>C (p.Lys780Thr) n.269+2288T>G | |
16 | g.88733737T>A | CA397112496 | HSALR1,PIEZO1 | c.2338A>T (p.Lys780Ter) n.269+2289T>A | |
16 | g.88733737T>C | CA397112494 | HSALR1,PIEZO1 | c.2338A>G (p.Lys780Glu) n.269+2289T>C | |
16 | g.88733737T>G | CA397112498 | HSALR1,PIEZO1 | c.2338A>C (p.Lys780Gln) n.269+2289T>G | ClinVar |
16 | g.88733738G>A | CA497366544 | HSALR1,PIEZO1 | c.2337C>T (p.Ala779=) n.269+2290G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733738G>C | CA497366545 | HSALR1,PIEZO1 | c.2337C>G (p.Ala779=) n.269+2290G>C | dbSNP |
16 | g.88733738G= | CA2241262081 | HSALR1,PIEZO1 | c.2337C= (p.Ala779=) n.269+2290G= | |
16 | g.88733738G>T | CA286422899 | HSALR1,PIEZO1 | c.2337C>A (p.Ala779=) n.269+2290G>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733739G>A | CA397112499 | HSALR1,PIEZO1 | c.2336C>T (p.Ala779Val) n.269+2291G>A | |
16 | g.88733739G>C | CA397112501 | HSALR1,PIEZO1 | c.2336C>G (p.Ala779Gly) n.269+2291G>C | |
16 | g.88733739G>T | CA397112502 | HSALR1,PIEZO1 | c.2336C>A (p.Ala779Asp) n.269+2291G>T | gnomAD v4 |
16 | g.88733740C>A | CA397112505 | HSALR1,PIEZO1 | c.2335G>T (p.Ala779Ser) n.269+2292C>A | gnomAD v4 |
16 | g.88733740C>G | CA397112506 | HSALR1,PIEZO1 | c.2335G>C (p.Ala779Pro) n.269+2292C>G | gnomAD v4 |
16 | g.88733740C>T | CA397112508 | HSALR1,PIEZO1 | c.2335G>A (p.Ala779Thr) n.269+2292C>T | gnomAD v4 |
16 | g.88733741T>A | CA497366549 | HSALR1,PIEZO1 | c.2334A>T (p.Ala778=) n.269+2293T>A | |
16 | g.88733741T>C | CA497366550 | HSALR1,PIEZO1 | c.2334A>G (p.Ala778=) n.269+2293T>C | gnomAD v4 |
16 | g.88733741T>G | CA497366551 | HSALR1,PIEZO1 | c.2334A>C (p.Ala778=) n.269+2293T>G | |
16 | g.88733742G>A | CA397112510 | HSALR1,PIEZO1 | c.2333C>T (p.Ala778Val) n.269+2294G>A | dbSNP gnomAD v4 |
16 | g.88733742G>C | CA397112512 | HSALR1,PIEZO1 | c.2333C>G (p.Ala778Gly) n.269+2294G>C | gnomAD v4 |
16 | g.88733742G= | CA2241262082 | HSALR1,PIEZO1 | c.2333C= (p.Ala778=) n.269+2294G= | |
16 | g.88733742G>T | CA397112513 | HSALR1,PIEZO1 | c.2333C>A (p.Ala778Glu) n.269+2294G>T | |
16 | g.88733743C>A | CA397112514 | HSALR1,PIEZO1 | c.2332G>T (p.Ala778Ser) n.269+2295C>A | |
16 | g.88733743C= | CA2241262083 | HSALR1,PIEZO1 | c.2332G= (p.Ala778=) n.269+2295C= | |
16 | g.88733743C>G | CA397112515 | HSALR1,PIEZO1 | c.2332G>C (p.Ala778Pro) n.269+2295C>G | |
16 | g.88733743C>T | CA8232797 | HSALR1,PIEZO1 | c.2332G>A (p.Ala778Thr) n.269+2295C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733744C>A | CA497366556 | HSALR1,PIEZO1 | c.2331G>T (p.Gly777=) n.269+2296C>A | gnomAD v4 |
16 | g.88733744C= | CA2241262084 | HSALR1,PIEZO1 | c.2331G= (p.Gly777=) n.269+2296C= | |
16 | g.88733744C>G | CA497366557 | HSALR1,PIEZO1 | c.2331G>C (p.Gly777=) n.269+2296C>G | |
16 | g.88733744C>T | CA497366559 | HSALR1,PIEZO1 | c.2331G>A (p.Gly777=) n.269+2296C>T | dbSNP gnomAD v4 |
16 | g.88733745C>A | CA397112521 | HSALR1,PIEZO1 | c.2330G>T (p.Gly777Val) n.269+2297C>A | |
16 | g.88733745C= | CA2241262085 | HSALR1,PIEZO1 | c.2330G= (p.Gly777=) n.269+2297C= |