Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.88733643T>A | CA397112192 | HSALR1,PIEZO1 | c.2432A>T (p.Glu811Val) n.269+2195T>A | |
16 | g.88733643T>C | CA286422708 | HSALR1,PIEZO1 | c.2432A>G (p.Glu811Gly) n.269+2195T>C | dbSNP |
16 | g.88733643T>G | CA397112194 | HSALR1,PIEZO1 | c.2432A>C (p.Glu811Ala) n.269+2195T>G | |
16 | g.88733643T= | CA2241262019 | HSALR1,PIEZO1 | c.2432A= (p.Glu811=) n.269+2195T= | |
16 | g.88733644C>A | CA16620293 | HSALR1,PIEZO1 | c.2431G>T (p.Glu811Ter) n.269+2196C>A | ClinVar dbSNP |
16 | g.88733644C= | CA2241262020 | HSALR1,PIEZO1 | c.2431G= (p.Glu811=) n.269+2196C= | |
16 | g.88733644C>G | CA397112196 | HSALR1,PIEZO1 | c.2431G>C (p.Glu811Gln) n.269+2196C>G | gnomAD v4 |
16 | g.88733644C>T | CA397112197 | HSALR1,PIEZO1 | c.2431G>A (p.Glu811Lys) n.269+2196C>T | |
16 | g.88733645C>A | CA497366504 | HSALR1,PIEZO1 | c.2430G>T (p.Leu810=) n.269+2197C>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733645C= | CA2241262021 | HSALR1,PIEZO1 | c.2430G= (p.Leu810=) n.269+2197C= | |
16 | g.88733645C>G | CA497366506 | HSALR1,PIEZO1 | c.2430G>C (p.Leu810=) n.269+2197C>G | |
16 | g.88733645C>T | CA497366507 | HSALR1,PIEZO1 | c.2430G>A (p.Leu810=) n.269+2197C>T | dbSNP COSMIC |
16 | g.88733646A= | CA2241262022 | HSALR1,PIEZO1 | c.2429T= (p.Leu810=) n.269+2198A= | |
16 | g.88733646A>C | CA397112199 | HSALR1,PIEZO1 | c.2429T>G (p.Leu810Arg) n.269+2198A>C | |
16 | g.88733646A>G | CA397112201 | HSALR1,PIEZO1 | c.2429T>C (p.Leu810Pro) n.269+2198A>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733646A>T | CA397112203 | HSALR1,PIEZO1 | c.2429T>A (p.Leu810Gln) n.269+2198A>T | |
16 | g.88733647G>A | CA497366508 | HSALR1,PIEZO1 | c.2428C>T (p.Leu810=) n.269+2199G>A | dbSNP gnomAD v4 |
16 | g.88733647G>C | CA397112204 | HSALR1,PIEZO1 | c.2428C>G (p.Leu810Val) n.269+2199G>C | |
16 | g.88733647G= | CA2241262023 | HSALR1,PIEZO1 | c.2428C= (p.Leu810=) n.269+2199G= | |
16 | g.88733647G>T | CA397112206 | HSALR1,PIEZO1 | c.2428C>A (p.Leu810Met) n.269+2199G>T | |
16 | g.88733648C>A | CA497366510 | HSALR1,PIEZO1 | c.2427G>T (p.Leu809=) n.269+2200C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733648C= | CA2241262024 | HSALR1,PIEZO1 | c.2427G= (p.Leu809=) n.269+2200C= | |
16 | g.88733648C>G | CA497366517 | HSALR1,PIEZO1 | c.2427G>C (p.Leu809=) n.269+2200C>G | |
16 | g.88733648C>T | CA497366512 | HSALR1,PIEZO1 | c.2427G>A (p.Leu809=) n.269+2200C>T | |
16 | g.88733649A>C | CA397112209 | HSALR1,PIEZO1 | c.2426T>G (p.Leu809Arg) n.269+2201A>C | gnomAD v4 |
16 | g.88733649A>G | CA397112211 | HSALR1,PIEZO1 | c.2426T>C (p.Leu809Pro) n.269+2201A>G | |
16 | g.88733649A>T | CA397112208 | HSALR1,PIEZO1 | c.2426T>A (p.Leu809Gln) n.269+2201A>T | |
16 | g.88733650G>A | CA497366521 | HSALR1,PIEZO1 | c.2425C>T (p.Leu809=) n.269+2202G>A | |
16 | g.88733650G>C | CA397112215 | HSALR1,PIEZO1 | c.2425C>G (p.Leu809Val) n.269+2202G>C | gnomAD v4 |
16 | g.88733650G>T | CA397112213 | HSALR1,PIEZO1 | c.2425C>A (p.Leu809Met) n.269+2202G>T | |
16 | g.88733651C>A | CA497366527 | HSALR1,PIEZO1 | c.2424G>T (p.Arg808=) n.269+2203C>A | gnomAD v4 |
16 | g.88733651C= | CA2241262025 | HSALR1,PIEZO1 | c.2424G= (p.Arg808=) n.269+2203C= | |
16 | g.88733651C>G | CA497366528 | HSALR1,PIEZO1 | c.2424G>C (p.Arg808=) n.269+2203C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733651C>T | CA497366529 | HSALR1,PIEZO1 | c.2424G>A (p.Arg808=) n.269+2203C>T | gnomAD v4 |
16 | g.88733652C>A | CA397112218 | HSALR1,PIEZO1 | c.2423G>T (p.Arg808Leu) n.269+2204C>A | dbSNP gnomAD v4 |
16 | g.88733652C= | CA2241262026 | HSALR1,PIEZO1 | c.2423G= (p.Arg808=) n.269+2204C= | |
16 | g.88733652C>G | CA397112217 | HSALR1,PIEZO1 | c.2423G>C (p.Arg808Pro) n.269+2204C>G | |
16 | g.88733652C>T | CA082797 | HSALR1,PIEZO1 | c.2423G>A (p.Arg808Gln) n.269+2204C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.[88733652C>T;88733731C>T;88734844G>C] | CA082799 | HSALR1,PIEZO1 | c.[1848+31C>G;2344G>A;2423G>A] (p.[Gly782Ser;Arg808Gln]) n.[269+2204C>T;269+2283C>T;270-2977G>C] | |
16 | g.88733653G>A | CA8232780 | HSALR1,PIEZO1 | c.2422C>T (p.Arg808Trp) n.269+2205G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733653G>C | CA397112220 | HSALR1,PIEZO1 | c.2422C>G (p.Arg808Gly) n.269+2205G>C | gnomAD v4 |
16 | g.88733653G= | CA2241262027 | HSALR1,PIEZO1 | c.2422C= (p.Arg808=) n.269+2205G= | |
16 | g.88733653G>T | CA497366534 | HSALR1,PIEZO1 | c.2422C>A (p.Arg808=) n.269+2205G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733654C>A | CA497366535 | HSALR1,PIEZO1 | c.2421G>T (p.Arg807=) n.269+2206C>A | |
16 | g.88733654C= | CA2241262028 | HSALR1,PIEZO1 | c.2421G= (p.Arg807=) n.269+2206C= | |
16 | g.88733654C>G | CA8232781 | HSALR1,PIEZO1 | c.2421G>C (p.Arg807=) n.269+2206C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733654C>T | CA497366536 | HSALR1,PIEZO1 | c.2421G>A (p.Arg807=) n.269+2206C>T | gnomAD v4 |
16 | g.88733655C>A | CA397112223 | HSALR1,PIEZO1 | c.2420G>T (p.Arg807Leu) n.269+2207C>A | gnomAD v4 |
16 | g.88733655C= | CA2241262029 | HSALR1,PIEZO1 | c.2420G= (p.Arg807=) n.269+2207C= | |
16 | g.88733655C>G | CA397112224 | HSALR1,PIEZO1 | c.2420G>C (p.Arg807Pro) n.269+2207C>G | |
16 | g.88733655C>T | CA16620294 | HSALR1,PIEZO1 | c.2420G>A (p.Arg807Gln) n.269+2207C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733656G>A | CA8232782 | HSALR1,PIEZO1 | c.2419C>T (p.Arg807Trp) n.269+2208G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733656G>C | CA397112225 | HSALR1,PIEZO1 | c.2419C>G (p.Arg807Gly) n.269+2208G>C | gnomAD v4 |
16 | g.88733656G= | CA2241262030 | HSALR1,PIEZO1 | c.2419C= (p.Arg807=) n.269+2208G= | |
16 | g.88733656G>T | CA497366538 | HSALR1,PIEZO1 | c.2419C>A (p.Arg807=) n.269+2208G>T | |
16 | g.88733657C>A | CA497366542 | HSALR1,PIEZO1 | c.2418G>T (p.Leu806=) n.269+2209C>A | |
16 | g.88733657C>G | CA497366540 | HSALR1,PIEZO1 | c.2418G>C (p.Leu806=) n.269+2209C>G | |
16 | g.88733657C>T | CA497366539 | HSALR1,PIEZO1 | c.2418G>A (p.Leu806=) n.269+2209C>T | |
16 | g.88733658A>C | CA397112226 | HSALR1,PIEZO1 | c.2417T>G (p.Leu806Arg) n.269+2210A>C | |
16 | g.88733658A>G | CA397112227 | HSALR1,PIEZO1 | c.2417T>C (p.Leu806Pro) n.269+2210A>G | |
16 | g.88733658A>T | CA397112229 | HSALR1,PIEZO1 | c.2417T>A (p.Leu806Gln) n.269+2210A>T | |
16 | g.88733658_88733659delinsAG | CA2241262031 | HSALR1,PIEZO1 | c.2416_2417delinsCT (p.Leu806=) n.269+2210_269+2211delinsAG | |
16 | g.88733659G>A | CA497366543 | HSALR1,PIEZO1 | c.2416C>T (p.Leu806=) n.269+2211G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733659G>C | CA397112233 | HSALR1,PIEZO1 | c.2416C>G (p.Leu806Val) n.269+2211G>C | |
16 | g.88733659G= | CA2241262032 | HSALR1,PIEZO1 | c.2416C= (p.Leu806=) n.269+2211G= | |
16 | g.88733659G>T | CA397112231 | HSALR1,PIEZO1 | c.2416C>A (p.Leu806Met) n.269+2211G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733660del | CA725646820 | HSALR1,PIEZO1 | c.2416del (p.Leu806CysfsTer22) n.269+2212del | dbSNP gnomAD v4 |
16 | g.88733660G>A | CA286422759 | HSALR1,PIEZO1 | c.2415C>T (p.Phe805=) n.269+2212G>A | ClinVar dbSNP gnomAD v4 |
16 | g.88733660G>C | CA397112235 | HSALR1,PIEZO1 | c.2415C>G (p.Phe805Leu) n.269+2212G>C | gnomAD v4 |
16 | g.88733660G= | CA2241262033 | HSALR1,PIEZO1 | c.2415C= (p.Phe805=) n.269+2212G= | |
16 | g.88733660G>T | CA397112237 | HSALR1,PIEZO1 | c.2415C>A (p.Phe805Leu) n.269+2212G>T | ClinVar |
16 | g.88733661A>C | CA397112239 | HSALR1,PIEZO1 | c.2414T>G (p.Phe805Cys) n.269+2213A>C | |
16 | g.88733661A>G | CA397112241 | HSALR1,PIEZO1 | c.2414T>C (p.Phe805Ser) n.269+2213A>G | |
16 | g.88733661A>T | CA397112242 | HSALR1,PIEZO1 | c.2414T>A (p.Phe805Tyr) n.269+2213A>T | |
16 | g.88733662A>C | CA397112243 | HSALR1,PIEZO1 | c.2413T>G (p.Phe805Val) n.269+2214A>C | gnomAD v4 |
16 | g.88733662A>G | CA397112245 | HSALR1,PIEZO1 | c.2413T>C (p.Phe805Leu) n.269+2214A>G | |
16 | g.88733662A>T | CA397112247 | HSALR1,PIEZO1 | c.2413T>A (p.Phe805Ile) n.269+2214A>T | |
16 | g.88733663C>A | CA497366553 | HSALR1,PIEZO1 | c.2412G>T (p.Val804=) n.269+2215C>A | |
16 | g.88733663C>G | CA497366554 | HSALR1,PIEZO1 | c.2412G>C (p.Val804=) n.269+2215C>G | |
16 | g.88733663C>T | CA497366555 | HSALR1,PIEZO1 | c.2412G>A (p.Val804=) n.269+2215C>T | gnomAD v4 |
16 | g.88733664A= | CA2241262034 | HSALR1,PIEZO1 | c.2411T= (p.Val804=) n.269+2216A= | |
16 | g.88733664A>C | CA397112248 | HSALR1,PIEZO1 | c.2411T>G (p.Val804Gly) n.269+2216A>C | |
16 | g.88733664A>G | CA397112250 | HSALR1,PIEZO1 | c.2411T>C (p.Val804Ala) n.269+2216A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733664A>T | CA397112251 | HSALR1,PIEZO1 | c.2411T>A (p.Val804Glu) n.269+2216A>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733665C>A | CA397112261 | HSALR1,PIEZO1 | c.2410G>T (p.Val804Leu) n.269+2217C>A | |
16 | g.88733665C= | CA2241262035 | HSALR1,PIEZO1 | c.2410G= (p.Val804=) n.269+2217C= | |
16 | g.88733665C>G | CA397112263 | HSALR1,PIEZO1 | c.2410G>C (p.Val804Leu) n.269+2217C>G | gnomAD v4 |
16 | g.88733665C>T | CA8232783 | HSALR1,PIEZO1 | c.2410G>A (p.Val804Met) n.269+2217C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733666del | CA2576093097 | HSALR1,PIEZO1 | c.2410del (p.Val804CysfsTer24) n.269+2218del | gnomAD v4 |
16 | g.88733666C>A | CA397112265 | HSALR1,PIEZO1 | c.2409G>T (p.Gln803His) n.269+2218C>A | gnomAD v4 |
16 | g.88733666C= | CA2241262036 | HSALR1,PIEZO1 | c.2409G= (p.Gln803=) n.269+2218C= | |
16 | g.88733666C>G | CA8232784 | HSALR1,PIEZO1 | c.2409G>C (p.Gln803His) n.269+2218C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733666C>T | CA497366560 | HSALR1,PIEZO1 | c.2409G>A (p.Gln803=) n.269+2218C>T | dbSNP |
16 | g.88733667T>A | CA397112267 | HSALR1,PIEZO1 | c.2408A>T (p.Gln803Leu) n.269+2219T>A | |
16 | g.88733667T>C | CA397112268 | HSALR1,PIEZO1 | c.2408A>G (p.Gln803Arg) n.269+2219T>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733667T>G | CA397112269 | HSALR1,PIEZO1 | c.2408A>C (p.Gln803Pro) n.269+2219T>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733667T= | CA2241262037 | HSALR1,PIEZO1 | c.2408A= (p.Gln803=) n.269+2219T= | |
16 | g.88733668G>A | CA397112270 | HSALR1,PIEZO1 | c.2407C>T (p.Gln803Ter) n.269+2220G>A | gnomAD v4 |
16 | g.88733668G>C | CA8232785 | HSALR1,PIEZO1 | c.2407C>G (p.Gln803Glu) n.269+2220G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733668G= | CA2241262038 | HSALR1,PIEZO1 | c.2407C= (p.Gln803=) n.269+2220G= | |
16 | g.88733668G>T | CA397112272 | HSALR1,PIEZO1 | c.2407C>A (p.Gln803Lys) n.269+2220G>T | |
16 | g.88733669C>A | CA497366564 | HSALR1,PIEZO1 | c.2406G>T (p.Val802=) n.269+2221C>A | |
16 | g.88733669C>G | CA497366565 | HSALR1,PIEZO1 | c.2406G>C (p.Val802=) n.269+2221C>G | |
16 | g.88733669C>T | CA497366566 | HSALR1,PIEZO1 | c.2406G>A (p.Val802=) n.269+2221C>T | gnomAD v4 |
16 | g.88733670A>C | CA397112274 | HSALR1,PIEZO1 | c.2405T>G (p.Val802Gly) n.269+2222A>C | gnomAD v4 |
16 | g.88733670A>G | CA397112276 | HSALR1,PIEZO1 | c.2405T>C (p.Val802Ala) n.269+2222A>G | |
16 | g.88733670A>T | CA397112277 | HSALR1,PIEZO1 | c.2405T>A (p.Val802Glu) n.269+2222A>T | |
16 | g.88733671C>A | CA397112279 | HSALR1,PIEZO1 | c.2404G>T (p.Val802Leu) n.269+2223C>A | gnomAD v4 |
16 | g.88733671C= | CA2241262039 | HSALR1,PIEZO1 | c.2404G= (p.Val802=) n.269+2223C= | |
16 | g.88733671C>G | CA397112281 | HSALR1,PIEZO1 | c.2404G>C (p.Val802Leu) n.269+2223C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733671C>T | CA8232786 | HSALR1,PIEZO1 | c.2404G>A (p.Val802Met) n.269+2223C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733672G>A | CA8232787 | HSALR1,PIEZO1 | c.2403C>T (p.Arg801=) n.269+2224G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733672G>C | CA286422796 | HSALR1,PIEZO1 | c.2403C>G (p.Arg801=) n.269+2224G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733672G= | CA2241262040 | HSALR1,PIEZO1 | c.2403C= (p.Arg801=) n.269+2224G= | |
16 | g.88733672G>T | CA497366573 | HSALR1,PIEZO1 | c.2403C>A (p.Arg801=) n.269+2224G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733673C>A | CA397112283 | HSALR1,PIEZO1 | c.2402G>T (p.Arg801Leu) n.269+2225C>A | |
16 | g.88733673C= | CA2241262041 | HSALR1,PIEZO1 | c.2402G= (p.Arg801=) n.269+2225C= | |
16 | g.88733673C>G | CA397112285 | HSALR1,PIEZO1 | c.2402G>C (p.Arg801Pro) n.269+2225C>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733673C>T | CA397112287 | HSALR1,PIEZO1 | c.2402G>A (p.Arg801His) n.269+2225C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733673_88733674insAA | CA2576093099 | HSALR1,PIEZO1 | c.2401_2402insTT (p.Arg801LeufsTer28) n.269+2225_269+2226insAA | |
16 | g.88733674del | CA2576093100 | HSALR1,PIEZO1 | c.2401del (p.Arg801AlafsTer27) n.269+2226del | |
16 | g.88733674G>A | CA286422806 | HSALR1,PIEZO1 | c.2401C>T (p.Arg801Cys) n.269+2226G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733674G>C | CA397112291 | HSALR1,PIEZO1 | c.2401C>G (p.Arg801Gly) n.269+2226G>C | |
16 | g.88733674G= | CA2241262042 | HSALR1,PIEZO1 | c.2401C= (p.Arg801=) n.269+2226G= | |
16 | g.88733674G>T | CA397112289 | HSALR1,PIEZO1 | c.2401C>A (p.Arg801Ser) n.269+2226G>T | gnomAD v4 |
16 | g.88733675_88733676del | CA2634881087 | HSALR1,PIEZO1 | c.2400_2401del (p.Val802AlafsTer?) n.269+2227_269+2228del | gnomAD v4 |
16 | g.88733675T>A | CA497366576 | HSALR1,PIEZO1 | c.2400A>T (p.Ser800=) n.269+2227T>A | |
16 | g.88733675T>C | CA497366577 | HSALR1,PIEZO1 | c.2400A>G (p.Ser800=) n.269+2227T>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733675T>G | CA497366578 | HSALR1,PIEZO1 | c.2400A>C (p.Ser800=) n.269+2227T>G | |
16 | g.88733675T= | CA2241262044 | HSALR1,PIEZO1 | c.2400A= (p.Ser800=) n.269+2227T= | |
16 | g.88733675dup | CA980375346 | HSALR1,PIEZO1 | c.2400dup (p.Arg801ThrfsTer?) n.269+2227dup | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733675_88733677delinsTGA | CA2241262043 | HSALR1,PIEZO1 | c.2398_2400delinsTCA (p.Ser800=) n.269+2227_269+2229delinsTGA | |
16 | g.88733676G>A | CA286422822 | HSALR1,PIEZO1 | c.2399C>T (p.Ser800Leu) n.269+2228G>A | ClinVar dbSNP gnomAD v4 |
16 | g.88733676G>C | CA397112294 | HSALR1,PIEZO1 | c.2399C>G (p.Ser800Ter) n.269+2228G>C | |
16 | g.88733676G= | CA2241262045 | HSALR1,PIEZO1 | c.2399C= (p.Ser800=) n.269+2228G= | |
16 | g.88733676G>T | CA397112296 | HSALR1,PIEZO1 | c.2399C>A (p.Ser800Ter) n.269+2228G>T | |
16 | g.88733679_88733680del | CA8232788 | HSALR1,PIEZO1 | c.2398_2399del (p.Ser800ThrfsTer?) n.269+2231_269+2232del | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.88733677A>C | CA397112298 | HSALR1,PIEZO1 | c.2398T>G (p.Ser800Ala) n.269+2229A>C | |
16 | g.88733677A>G | CA397112299 | HSALR1,PIEZO1 | c.2398T>C (p.Ser800Pro) n.269+2229A>G | |
16 | g.88733677A>T | CA397112301 | HSALR1,PIEZO1 | c.2398T>A (p.Ser800Thr) n.269+2229A>T | |
16 | g.88733678G>A | CA497366586 | HSALR1,PIEZO1 | c.2397C>T (p.Leu799=) n.269+2230G>A | |
16 | g.88733678G>C | CA497366584 | HSALR1,PIEZO1 | c.2397C>G (p.Leu799=) n.269+2230G>C | gnomAD v4 |
16 | g.88733678G>T | CA497366585 | HSALR1,PIEZO1 | c.2397C>A (p.Leu799=) n.269+2230G>T | |
16 | g.88733679A>C | CA397112304 | HSALR1,PIEZO1 | c.2396T>G (p.Leu799Arg) n.269+2231A>C | |
16 | g.88733679A>G | CA397112306 | HSALR1,PIEZO1 | c.2396T>C (p.Leu799Pro) n.269+2231A>G | |
16 | g.88733679A>T | CA397112303 | HSALR1,PIEZO1 | c.2396T>A (p.Leu799His) n.269+2231A>T | |
16 | g.88733680G>A | CA397112307 | HSALR1,PIEZO1 | c.2395C>T (p.Leu799Phe) n.269+2232G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733680G>C | CA286422823 | HSALR1,PIEZO1 | c.2395C>G (p.Leu799Val) n.269+2232G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733680G= | CA2241262046 | HSALR1,PIEZO1 | c.2395C= (p.Leu799=) n.269+2232G= | |
16 | g.88733680G>T | CA397112309 | HSALR1,PIEZO1 | c.2395C>A (p.Leu799Ile) n.269+2232G>T | gnomAD v4 |
16 | g.88733681G>A | CA497366589 | HSALR1,PIEZO1 | c.2394C>T (p.Val798=) n.269+2233G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733681G>C | CA497366590 | HSALR1,PIEZO1 | c.2394C>G (p.Val798=) n.269+2233G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733681G= | CA2241262047 | HSALR1,PIEZO1 | c.2394C= (p.Val798=) n.269+2233G= | |
16 | g.88733681G>T | CA497366592 | HSALR1,PIEZO1 | c.2394C>A (p.Val798=) n.269+2233G>T | |
16 | g.88733682A>C | CA397112311 | HSALR1,PIEZO1 | c.2393T>G (p.Val798Gly) n.269+2234A>C | |
16 | g.88733682A>G | CA397112312 | HSALR1,PIEZO1 | c.2393T>C (p.Val798Ala) n.269+2234A>G | |
16 | g.88733682A>T | CA397112314 | HSALR1,PIEZO1 | c.2393T>A (p.Val798Asp) n.269+2234A>T | |
16 | g.88733683C>A | CA397112317 | HSALR1,PIEZO1 | c.2392G>T (p.Val798Phe) n.269+2235C>A | |
16 | g.88733683C= | CA2241262048 | HSALR1,PIEZO1 | c.2392G= (p.Val798=) n.269+2235C= | |
16 | g.88733683C>G | CA397112315 | HSALR1,PIEZO1 | c.2392G>C (p.Val798Leu) n.269+2235C>G | |
16 | g.88733683C>T | CA286422824 | HSALR1,PIEZO1 | c.2392G>A (p.Val798Ile) n.269+2235C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.88733684G>A | CA8232789 | HSALR1,PIEZO1 | c.2391C>T (p.Asp797=) n.269+2236G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733684G>C | CA397112320 | HSALR1,PIEZO1 | c.2391C>G (p.Asp797Glu) n.269+2236G>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733684G= | CA2241262049 | HSALR1,PIEZO1 | c.2391C= (p.Asp797=) n.269+2236G= | |
16 | g.88733684G>T | CA397112321 | HSALR1,PIEZO1 | c.2391C>A (p.Asp797Glu) n.269+2236G>T | |
16 | g.88733685T>A | CA397112323 | HSALR1,PIEZO1 | c.2390A>T (p.Asp797Val) n.269+2237T>A | |
16 | g.88733685T>C | CA397112327 | HSALR1,PIEZO1 | c.2390A>G (p.Asp797Gly) n.269+2237T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733685T>G | CA397112329 | HSALR1,PIEZO1 | c.2390A>C (p.Asp797Ala) n.269+2237T>G | |
16 | g.88733685T= | CA2241262050 | HSALR1,PIEZO1 | c.2390A= (p.Asp797=) n.269+2237T= | |
16 | g.88733686C>A | CA397112331 | HSALR1,PIEZO1 | c.2389G>T (p.Asp797Tyr) n.269+2238C>A | |
16 | g.88733686C>G | CA397112333 | HSALR1,PIEZO1 | c.2389G>C (p.Asp797His) n.269+2238C>G | |
16 | g.88733686C>T | CA397112332 | HSALR1,PIEZO1 | c.2389G>A (p.Asp797Asn) n.269+2238C>T | |
16 | g.88733687C>A | CA497366600 | HSALR1,PIEZO1 | c.2388G>T (p.Ser796=) n.269+2239C>A | |
16 | g.88733687C= | CA2241262051 | HSALR1,PIEZO1 | c.2388G= (p.Ser796=) n.269+2239C= | |
16 | g.88733687C>G | CA497366601 | HSALR1,PIEZO1 | c.2388G>C (p.Ser796=) n.269+2239C>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733687C>T | CA8232790 | HSALR1,PIEZO1 | c.2388G>A (p.Ser796=) n.269+2239C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733688G>A | CA286422834 | HSALR1,PIEZO1 | c.2387C>T (p.Ser796Leu) n.269+2240G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733688G>C | CA397112335 | HSALR1,PIEZO1 | c.2387C>G (p.Ser796Trp) n.269+2240G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733688G= | CA2241262052 | HSALR1,PIEZO1 | c.2387C= (p.Ser796=) n.269+2240G= | |
16 | g.88733688G>T | CA397112337 | HSALR1,PIEZO1 | c.2387C>A (p.Ser796Ter) n.269+2240G>T | gnomAD v4 |
16 | g.88733689A>C | CA397112338 | HSALR1,PIEZO1 | c.2386T>G (p.Ser796Ala) n.269+2241A>C | |
16 | g.88733689A>G | CA397112339 | HSALR1,PIEZO1 | c.2386T>C (p.Ser796Pro) n.269+2241A>G | |
16 | g.88733689A>T | CA397112341 | HSALR1,PIEZO1 | c.2386T>A (p.Ser796Thr) n.269+2241A>T | |
16 | g.88733690G>A | CA286422837 | HSALR1,PIEZO1 | c.2385C>T (p.Phe795=) n.269+2242G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733690G>C | CA397112343 | HSALR1,PIEZO1 | c.2385C>G (p.Phe795Leu) n.269+2242G>C | gnomAD v4 |
16 | g.88733690G= | CA2241262053 | HSALR1,PIEZO1 | c.2385C= (p.Phe795=) n.269+2242G= | |
16 | g.88733690G>T | CA397112344 | HSALR1,PIEZO1 | c.2385C>A (p.Phe795Leu) n.269+2242G>T | |
16 | g.88733691A>C | CA397112345 | HSALR1,PIEZO1 | c.2384T>G (p.Phe795Cys) n.269+2243A>C | |
16 | g.88733691A>G | CA397112347 | HSALR1,PIEZO1 | c.2384T>C (p.Phe795Ser) n.269+2243A>G | gnomAD v4 |
16 | g.88733691A>T | CA397112348 | HSALR1,PIEZO1 | c.2384T>A (p.Phe795Tyr) n.269+2243A>T | |
16 | g.88733692A= | CA2241262054 | HSALR1,PIEZO1 | c.2383T= (p.Phe795=) n.269+2244A= | |
16 | g.88733692A>C | CA397112350 | HSALR1,PIEZO1 | c.2383T>G (p.Phe795Val) n.269+2244A>C | |
16 | g.88733692A>G | CA397112353 | HSALR1,PIEZO1 | c.2383T>C (p.Phe795Leu) n.269+2244A>G | gnomAD v4 |
16 | g.88733692A>T | CA397112351 | HSALR1,PIEZO1 | c.2383T>A (p.Phe795Ile) n.269+2244A>T | |
16 | g.88733693G>A | CA497366421 | HSALR1,PIEZO1 | c.2382C>T (p.Gly794=) n.269+2245G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733693G>C | CA497366422 | HSALR1,PIEZO1 | c.2382C>G (p.Gly794=) n.269+2245G>C | dbSNP gnomAD v4 |
16 | g.88733693G= | CA2241262055 | HSALR1,PIEZO1 | c.2382C= (p.Gly794=) n.269+2245G= | |
16 | g.88733693G>T | CA497366423 | HSALR1,PIEZO1 | c.2382C>A (p.Gly794=) n.269+2245G>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733696_88733702dup | CA980375369 | HSALR1,PIEZO1 | c.2376_2382dup (p.Phe795SerfsTer?) n.269+2248_269+2254dup | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733694C>A | CA397112354 | HSALR1,PIEZO1 | c.2381G>T (p.Gly794Val) n.269+2246C>A | |
16 | g.88733694C>G | CA397112356 | HSALR1,PIEZO1 | c.2381G>C (p.Gly794Ala) n.269+2246C>G | |
16 | g.88733694C>T | CA397112357 | HSALR1,PIEZO1 | c.2381G>A (p.Gly794Asp) n.269+2246C>T | gnomAD v4 |
16 | g.88733695C>A | CA397112359 | HSALR1,PIEZO1 | c.2380G>T (p.Gly794Cys) n.269+2247C>A | dbSNP |
16 | g.88733695C= | CA2241262056 | HSALR1,PIEZO1 | c.2380G= (p.Gly794=) n.269+2247C= | |
16 | g.88733695C>G | CA397112361 | HSALR1,PIEZO1 | c.2380G>C (p.Gly794Arg) n.269+2247C>G | |
16 | g.88733695C>T | CA8232791 | HSALR1,PIEZO1 | c.2380G>A (p.Gly794Ser) n.269+2247C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733696G>A | CA497366433 | HSALR1,PIEZO1 | c.2379C>T (p.Ala793=) n.269+2248G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733696G>C | CA497366434 | HSALR1,PIEZO1 | c.2379C>G (p.Ala793=) n.269+2248G>C | ClinVar dbSNP gnomAD v4 |
16 | g.88733696G= | CA2241262057 | HSALR1,PIEZO1 | c.2379C= (p.Ala793=) n.269+2248G= | |
16 | g.88733696G>T | CA497366441 | HSALR1,PIEZO1 | c.2379C>A (p.Ala793=) n.269+2248G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733697G>A | CA397112363 | HSALR1,PIEZO1 | c.2378C>T (p.Ala793Val) n.269+2249G>A | gnomAD v4 |
16 | g.88733697G>C | CA397112364 | HSALR1,PIEZO1 | c.2378C>G (p.Ala793Gly) n.269+2249G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733697G= | CA2241262058 | HSALR1,PIEZO1 | c.2378C= (p.Ala793=) n.269+2249G= | |
16 | g.88733697G>T | CA397112366 | HSALR1,PIEZO1 | c.2378C>A (p.Ala793Asp) n.269+2249G>T | |
16 | g.88733698C>A | CA397112368 | HSALR1,PIEZO1 | c.2377G>T (p.Ala793Ser) n.269+2250C>A | |
16 | g.88733698C>G | CA397112369 | HSALR1,PIEZO1 | c.2377G>C (p.Ala793Pro) n.269+2250C>G | |
16 | g.88733698C>T | CA397112371 | HSALR1,PIEZO1 | c.2377G>A (p.Ala793Thr) n.269+2250C>T | |
16 | g.88733699T>A | CA497366451 | HSALR1,PIEZO1 | c.2376A>T (p.Ala792=) n.269+2251T>A | |
16 | g.88733699T>C | CA497366453 | HSALR1,PIEZO1 | c.2376A>G (p.Ala792=) n.269+2251T>C | |
16 | g.88733699T>G | CA497366452 | HSALR1,PIEZO1 | c.2376A>C (p.Ala792=) n.269+2251T>G | |
16 | g.88733700G>A | CA286422842 | HSALR1,PIEZO1 | c.2375C>T (p.Ala792Val) n.269+2252G>A | ClinVar dbSNP gnomAD v4 |
16 | g.88733700G>C | CA397112374 | HSALR1,PIEZO1 | c.2375C>G (p.Ala792Gly) n.269+2252G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733700G= | CA2241262059 | HSALR1,PIEZO1 | c.2375C= (p.Ala792=) n.269+2252G= | |
16 | g.88733700G>T | CA397112373 | HSALR1,PIEZO1 | c.2375C>A (p.Ala792Glu) n.269+2252G>T | |
16 | g.88733701C>A | CA397112376 | HSALR1,PIEZO1 | c.2374G>T (p.Ala792Ser) n.269+2253C>A | |
16 | g.88733701C>G | CA397112378 | HSALR1,PIEZO1 | c.2374G>C (p.Ala792Pro) n.269+2253C>G | |
16 | g.88733701C>T | CA397112380 | HSALR1,PIEZO1 | c.2374G>A (p.Ala792Thr) n.269+2253C>T | gnomAD v4 |
16 | g.88733702C>A | CA497366461 | HSALR1,PIEZO1 | c.2373G>T (p.Leu791=) n.269+2254C>A | |
16 | g.88733702C= | CA2241262060 | HSALR1,PIEZO1 | c.2373G= (p.Leu791=) n.269+2254C= | |
16 | g.88733702C>G | CA497366462 | HSALR1,PIEZO1 | c.2373G>C (p.Leu791=) n.269+2254C>G | |
16 | g.88733702C>T | CA497366463 | HSALR1,PIEZO1 | c.2373G>A (p.Leu791=) n.269+2254C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733703A>C | CA397112382 | HSALR1,PIEZO1 | c.2372T>G (p.Leu791Arg) n.269+2255A>C | |
16 | g.88733703A>G | CA397112384 | HSALR1,PIEZO1 | c.2372T>C (p.Leu791Pro) n.269+2255A>G | gnomAD v4 |
16 | g.88733703A>T | CA397112386 | HSALR1,PIEZO1 | c.2372T>A (p.Leu791Gln) n.269+2255A>T | |
16 | g.88733704G>A | CA286422844 | HSALR1,PIEZO1 | c.2371C>T (p.Leu791=) n.269+2256G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733704G>C | CA397112387 | HSALR1,PIEZO1 | c.2371C>G (p.Leu791Val) n.269+2256G>C | |
16 | g.88733704G= | CA2241262061 | HSALR1,PIEZO1 | c.2371C= (p.Leu791=) n.269+2256G= | |
16 | g.88733704G>T | CA397112389 | HSALR1,PIEZO1 | c.2371C>A (p.Leu791Met) n.269+2256G>T | |
16 | g.88733705C>A | CA397112391 | HSALR1,PIEZO1 | c.2370G>T (p.Glu790Asp) n.269+2257C>A | |
16 | g.88733705C>G | CA397112394 | HSALR1,PIEZO1 | c.2370G>C (p.Glu790Asp) n.269+2257C>G | gnomAD v4 |
16 | g.88733705C>T | CA497366464 | HSALR1,PIEZO1 | c.2370G>A (p.Glu790=) n.269+2257C>T | gnomAD v4 |
16 | g.88733706T>A | CA397112396 | HSALR1,PIEZO1 | c.2369A>T (p.Glu790Val) n.269+2258T>A | |
16 | g.88733706T>C | CA397112397 | HSALR1,PIEZO1 | c.2369A>G (p.Glu790Gly) n.269+2258T>C | |
16 | g.88733706T>G | CA397112398 | HSALR1,PIEZO1 | c.2369A>C (p.Glu790Ala) n.269+2258T>G | |
16 | g.88733707C>A | CA397112399 | HSALR1,PIEZO1 | c.2368G>T (p.Glu790Ter) n.269+2259C>A | gnomAD v4 |
16 | g.88733707C= | CA2241262062 | HSALR1,PIEZO1 | c.2368G= (p.Glu790=) n.269+2259C= | |
16 | g.88733707C>G | CA397112400 | HSALR1,PIEZO1 | c.2368G>C (p.Glu790Gln) n.269+2259C>G | |
16 | g.88733707C>T | CA8232792 | HSALR1,PIEZO1 | c.2368G>A (p.Glu790Lys) n.269+2259C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.88733708C>A | CA497366471 | HSALR1,PIEZO1 | c.2367G>T (p.Leu789=) n.269+2260C>A | |
16 | g.88733708C= | CA2241262063 | HSALR1,PIEZO1 | c.2367G= (p.Leu789=) n.269+2260C= | |
16 | g.88733708C>G | CA286422853 | HSALR1,PIEZO1 | c.2367G>C (p.Leu789=) n.269+2260C>G | dbSNP gnomAD v4 |
16 | g.88733708C>T | CA497366472 | HSALR1,PIEZO1 | c.2367G>A (p.Leu789=) n.269+2260C>T | dbSNP |
16 | g.88733709A= | CA2241262064 | HSALR1,PIEZO1 | c.2366T= (p.Leu789=) n.269+2261A= | |
16 | g.88733709A>C | CA397112403 | HSALR1,PIEZO1 | c.2366T>G (p.Leu789Arg) n.269+2261A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733709A>G | CA397112402 | HSALR1,PIEZO1 | c.2366T>C (p.Leu789Pro) n.269+2261A>G | |
16 | g.88733709A>T | CA397112405 | HSALR1,PIEZO1 | c.2366T>A (p.Leu789Gln) n.269+2261A>T | |
16 | g.88733710G>A | CA8232793 | HSALR1,PIEZO1 | c.2365C>T (p.Leu789=) n.269+2262G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.88733710G>C | CA397112407 | HSALR1,PIEZO1 | c.2365C>G (p.Leu789Val) n.269+2262G>C | dbSNP gnomAD v2 |
16 | g.88733710G= | CA2241262065 | HSALR1,PIEZO1 | c.2365C= (p.Leu789=) n.269+2262G= | |
16 | g.88733710G>T | CA397112408 | HSALR1,PIEZO1 | c.2365C>A (p.Leu789Met) n.269+2262G>T | gnomAD v4 |
16 | g.88733711C>A | CA497366480 | HSALR1,PIEZO1 | c.2364G>T (p.Leu788=) n.269+2263C>A | |
16 | g.88733711C= | CA2241262066 | HSALR1,PIEZO1 | c.2364G= (p.Leu788=) n.269+2263C= | |
16 | g.88733711C>G | CA497366482 | HSALR1,PIEZO1 | c.2364G>C (p.Leu788=) n.269+2263C>G | |
16 | g.88733711C>T | CA497366481 | HSALR1,PIEZO1 | c.2364G>A (p.Leu788=) n.269+2263C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733712A>C | CA397112409 | HSALR1,PIEZO1 | c.2363T>G (p.Leu788Arg) n.269+2264A>C | |
16 | g.88733712A>G | CA397112411 | HSALR1,PIEZO1 | c.2363T>C (p.Leu788Pro) n.269+2264A>G | |
16 | g.88733712A>T | CA397112414 | HSALR1,PIEZO1 | c.2363T>A (p.Leu788Gln) n.269+2264A>T | |
16 | g.88733713G>A | CA497366485 | HSALR1,PIEZO1 | c.2362C>T (p.Leu788=) n.269+2265G>A | |
16 | g.88733713G>C | CA397112416 | HSALR1,PIEZO1 | c.2362C>G (p.Leu788Val) n.269+2265G>C | |
16 | g.88733713G>T | CA397112418 | HSALR1,PIEZO1 | c.2362C>A (p.Leu788Met) n.269+2265G>T | |
16 | g.88733714C>A | CA497366488 | HSALR1,PIEZO1 | c.2361G>T (p.Arg787=) n.269+2266C>A | gnomAD v4 |
16 | g.88733714C= | CA2241262067 | HSALR1,PIEZO1 | c.2361G= (p.Arg787=) n.269+2266C= | |
16 | g.88733714C>G | CA8232794 | HSALR1,PIEZO1 | c.2361G>C (p.Arg787=) n.269+2266C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733714C>T | CA497366489 | HSALR1,PIEZO1 | c.2361G>A (p.Arg787=) n.269+2266C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733715C>A | CA397112421 | HSALR1,PIEZO1 | c.2360G>T (p.Arg787Leu) n.269+2267C>A | gnomAD v4 |
16 | g.88733715C= | CA2241262068 | HSALR1,PIEZO1 | c.2360G= (p.Arg787=) n.269+2267C= | |
16 | g.88733715C>G | CA397112423 | HSALR1,PIEZO1 | c.2360G>C (p.Arg787Pro) n.269+2267C>G | |
16 | g.88733715C>T | CA397112425 | HSALR1,PIEZO1 | c.2360G>A (p.Arg787Gln) n.269+2267C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88733716G>A | CA286422865 | HSALR1,PIEZO1 | c.2359C>T (p.Arg787Trp) n.269+2268G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.88733716G>C | CA397112426 | HSALR1,PIEZO1 | c.2359C>G (p.Arg787Gly) n.269+2268G>C | |
16 | g.88733716G= | CA2241262069 | HSALR1,PIEZO1 | c.2359C= (p.Arg787=) n.269+2268G= | |
16 | g.88733716G>T | CA497366495 | HSALR1,PIEZO1 | c.2359C>A (p.Arg787=) n.269+2268G>T | gnomAD v4 |
16 | g.88733717C>A | CA397112427 | HSALR1,PIEZO1 | c.2358G>T (p.Glu786Asp) n.269+2269C>A | |
16 | g.88733717C= | CA2241262070 | HSALR1,PIEZO1 | c.2358G= (p.Glu786=) n.269+2269C= | |
16 | g.88733717C>G | CA397112428 | HSALR1,PIEZO1 | c.2358G>C (p.Glu786Asp) n.269+2269C>G | |
16 | g.88733717C>T | CA286422875 | HSALR1,PIEZO1 | c.2358G>A (p.Glu786=) n.269+2269C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733718T>A | CA397112429 | HSALR1,PIEZO1 | c.2357A>T (p.Glu786Val) n.269+2270T>A | |
16 | g.88733718T>C | CA397112430 | HSALR1,PIEZO1 | c.2357A>G (p.Glu786Gly) n.269+2270T>C | |
16 | g.88733718T>G | CA397112431 | HSALR1,PIEZO1 | c.2357A>C (p.Glu786Ala) n.269+2270T>G | |
16 | g.88733719C>A | CA397112433 | HSALR1,PIEZO1 | c.2356G>T (p.Glu786Ter) n.269+2271C>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733719C= | CA2241262071 | HSALR1,PIEZO1 | c.2356G= (p.Glu786=) n.269+2271C= | |
16 | g.88733719C>G | CA397112435 | HSALR1,PIEZO1 | c.2356G>C (p.Glu786Gln) n.269+2271C>G | |
16 | g.88733719C>T | CA397112436 | HSALR1,PIEZO1 | c.2356G>A (p.Glu786Lys) n.269+2271C>T | dbSNP |
16 | g.88733720A= | CA2241262072 | HSALR1,PIEZO1 | c.2355T= (p.Ala785=) n.269+2272A= | |
16 | g.88733720A>C | CA497366499 | HSALR1,PIEZO1 | c.2355T>G (p.Ala785=) n.269+2272A>C | |
16 | g.88733720A>G | CA8232795 | HSALR1,PIEZO1 | c.2355T>C (p.Ala785=) n.269+2272A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733720A>T | CA497366501 | HSALR1,PIEZO1 | c.2355T>A (p.Ala785=) n.269+2272A>T | |
16 | g.88733721G>A | CA397112439 | HSALR1,PIEZO1 | c.2354C>T (p.Ala785Val) n.269+2273G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733721G>C | CA397112441 | HSALR1,PIEZO1 | c.2354C>G (p.Ala785Gly) n.269+2273G>C | gnomAD v4 |
16 | g.88733721G= | CA2241262073 | HSALR1,PIEZO1 | c.2354C= (p.Ala785=) n.269+2273G= | |
16 | g.88733721G>T | CA397112442 | HSALR1,PIEZO1 | c.2354C>A (p.Ala785Asp) n.269+2273G>T | gnomAD v4 |
16 | g.88733722C>A | CA397112446 | HSALR1,PIEZO1 | c.2353G>T (p.Ala785Ser) n.269+2274C>A | gnomAD v4 |
16 | g.88733722C>G | CA397112445 | HSALR1,PIEZO1 | c.2353G>C (p.Ala785Pro) n.269+2274C>G | |
16 | g.88733722C>T | CA397112444 | HSALR1,PIEZO1 | c.2353G>A (p.Ala785Thr) n.269+2274C>T | |
16 | g.88733723C>A | CA497366502 | HSALR1,PIEZO1 | c.2352G>T (p.Val784=) n.269+2275C>A | |
16 | g.88733723C= | CA2241262074 | HSALR1,PIEZO1 | c.2352G= (p.Val784=) n.269+2275C= | |
16 | g.88733723C>G | CA497366503 | HSALR1,PIEZO1 | c.2352G>C (p.Val784=) n.269+2275C>G | |
16 | g.88733723C>T | CA497366505 | HSALR1,PIEZO1 | c.2352G>A (p.Val784=) n.269+2275C>T | dbSNP gnomAD v4 |
16 | g.88733724A>C | CA397112447 | HSALR1,PIEZO1 | c.2351T>G (p.Val784Gly) n.269+2276A>C | |
16 | g.88733724A>G | CA397112448 | HSALR1,PIEZO1 | c.2351T>C (p.Val784Ala) n.269+2276A>G | |
16 | g.88733724A>T | CA397112449 | HSALR1,PIEZO1 | c.2351T>A (p.Val784Glu) n.269+2276A>T | |
16 | g.88733725C>A | CA397112450 | HSALR1,PIEZO1 | c.2350G>T (p.Val784Leu) n.269+2277C>A | |
16 | g.88733725C>G | CA397112452 | HSALR1,PIEZO1 | c.2350G>C (p.Val784Leu) n.269+2277C>G | |
16 | g.88733725C>T | CA397112454 | HSALR1,PIEZO1 | c.2350G>A (p.Val784Met) n.269+2277C>T | gnomAD v4 |
16 | g.88733726C>A | CA497366515 | HSALR1,PIEZO1 | c.2349G>T (p.Leu783=) n.269+2278C>A | |
16 | g.88733726C= | CA2241262075 | HSALR1,PIEZO1 | c.2349G= (p.Leu783=) n.269+2278C= | |
16 | g.88733726C>G | CA497366509 | HSALR1,PIEZO1 | c.2349G>C (p.Leu783=) n.269+2278C>G | dbSNP gnomAD v4 |
16 | g.88733726C>T | CA497366511 | HSALR1,PIEZO1 | c.2349G>A (p.Leu783=) n.269+2278C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733727A>C | CA397112459 | HSALR1,PIEZO1 | c.2348T>G (p.Leu783Arg) n.269+2279A>C | |
16 | g.88733727A>G | CA397112455 | HSALR1,PIEZO1 | c.2348T>C (p.Leu783Pro) n.269+2279A>G | |
16 | g.88733727A>T | CA397112457 | HSALR1,PIEZO1 | c.2348T>A (p.Leu783Gln) n.269+2279A>T | |
16 | g.88733728G>A | CA497366520 | HSALR1,PIEZO1 | c.2347C>T (p.Leu783=) n.269+2280G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88733728G>C | CA397112461 | HSALR1,PIEZO1 | c.2347C>G (p.Leu783Val) n.269+2280G>C | gnomAD v4 |
16 | g.88733728G= | CA2241262076 | HSALR1,PIEZO1 | c.2347C= (p.Leu783=) n.269+2280G= | |
16 | g.88733728G>T | CA8232796 | HSALR1,PIEZO1 | c.2347C>A (p.Leu783Met) n.269+2280G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.88733729G>A | CA286422896 | HSALR1,PIEZO1 | c.2346C>T (p.Gly782=) n.269+2281G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88733729G>C | CA497366522 | HSALR1,PIEZO1 | c.2346C>G (p.Gly782=) n.269+2281G>C | dbSNP |
16 | g.88733729G= | CA2241262077 | HSALR1,PIEZO1 | c.2346C= (p.Gly782=) n.269+2281G= | |
16 | g.88733729G>T | CA497366523 | HSALR1,PIEZO1 | c.2346C>A (p.Gly782=) n.269+2281G>T | |
16 | g.88733730C>A | CA397112463 | HSALR1,PIEZO1 | c.2345G>T (p.Gly782Val) n.269+2282C>A | |
16 | g.88733730C= | CA2241262078 | HSALR1,PIEZO1 | c.2345G= (p.Gly782=) n.269+2282C= | |
16 | g.88733730C>G | CA397112466 | HSALR1,PIEZO1 | c.2345G>C (p.Gly782Ala) n.269+2282C>G | |
16 | g.88733730C>T | CA286422897 | HSALR1,PIEZO1 | c.2345G>A (p.Gly782Asp) n.269+2282C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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.88733746del | CA2841093168 | HSALR1,PIEZO1 | c.2332del n.269+2298del |