Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.88733642C>ACA397112189HSALR1,PIEZO1c.2433G>T (p.Glu811Asp)
n.269+2194C>A
16g.88733642C=CA2241262018HSALR1,PIEZO1c.2433G= (p.Glu811=)
n.269+2194C=
16g.88733642C>GCA397112191HSALR1,PIEZO1c.2433G>C (p.Glu811Asp)
n.269+2194C>G
16g.88733642C>TCA497366500HSALR1,PIEZO1c.2433G>A (p.Glu811=)
n.269+2194C>T
dbSNP gnomAD v4
16g.88733643T>ACA397112192HSALR1,PIEZO1c.2432A>T (p.Glu811Val)
n.269+2195T>A
16g.88733643T>CCA286422708HSALR1,PIEZO1c.2432A>G (p.Glu811Gly)
n.269+2195T>C
dbSNP
16g.88733643T>GCA397112194HSALR1,PIEZO1c.2432A>C (p.Glu811Ala)
n.269+2195T>G
16g.88733643T=CA2241262019HSALR1,PIEZO1c.2432A= (p.Glu811=)
n.269+2195T=
16g.88733644C>ACA16620293HSALR1,PIEZO1c.2431G>T (p.Glu811Ter)
n.269+2196C>A
ClinVar dbSNP
16g.88733644C=CA2241262020HSALR1,PIEZO1c.2431G= (p.Glu811=)
n.269+2196C=
16g.88733644C>GCA397112196HSALR1,PIEZO1c.2431G>C (p.Glu811Gln)
n.269+2196C>G
gnomAD v4
16g.88733644C>TCA397112197HSALR1,PIEZO1c.2431G>A (p.Glu811Lys)
n.269+2196C>T
16g.88733645C>ACA497366504HSALR1,PIEZO1c.2430G>T (p.Leu810=)
n.269+2197C>A
dbSNP gnomAD v3 gnomAD v4
16g.88733645C=CA2241262021HSALR1,PIEZO1c.2430G= (p.Leu810=)
n.269+2197C=
16g.88733645C>GCA497366506HSALR1,PIEZO1c.2430G>C (p.Leu810=)
n.269+2197C>G
16g.88733645C>TCA497366507HSALR1,PIEZO1c.2430G>A (p.Leu810=)
n.269+2197C>T
dbSNP COSMIC
16g.88733646A=CA2241262022HSALR1,PIEZO1c.2429T= (p.Leu810=)
n.269+2198A=
16g.88733646A>CCA397112199HSALR1,PIEZO1c.2429T>G (p.Leu810Arg)
n.269+2198A>C
16g.88733646A>GCA397112201HSALR1,PIEZO1c.2429T>C (p.Leu810Pro)
n.269+2198A>G
dbSNP gnomAD v3 gnomAD v4
16g.88733646A>TCA397112203HSALR1,PIEZO1c.2429T>A (p.Leu810Gln)
n.269+2198A>T
16g.88733647G>ACA497366508HSALR1,PIEZO1c.2428C>T (p.Leu810=)
n.269+2199G>A
dbSNP gnomAD v4
16g.88733647G>CCA397112204HSALR1,PIEZO1c.2428C>G (p.Leu810Val)
n.269+2199G>C
16g.88733647G=CA2241262023HSALR1,PIEZO1c.2428C= (p.Leu810=)
n.269+2199G=
16g.88733647G>TCA397112206HSALR1,PIEZO1c.2428C>A (p.Leu810Met)
n.269+2199G>T
16g.88733648C>ACA497366510HSALR1,PIEZO1c.2427G>T (p.Leu809=)
n.269+2200C>A
dbSNP gnomAD v2 gnomAD v4
16g.88733648C=CA2241262024HSALR1,PIEZO1c.2427G= (p.Leu809=)
n.269+2200C=
16g.88733648C>GCA497366517HSALR1,PIEZO1c.2427G>C (p.Leu809=)
n.269+2200C>G
16g.88733648C>TCA497366512HSALR1,PIEZO1c.2427G>A (p.Leu809=)
n.269+2200C>T
16g.88733649A>CCA397112209HSALR1,PIEZO1c.2426T>G (p.Leu809Arg)
n.269+2201A>C
gnomAD v4
16g.88733649A>GCA397112211HSALR1,PIEZO1c.2426T>C (p.Leu809Pro)
n.269+2201A>G
16g.88733649A>TCA397112208HSALR1,PIEZO1c.2426T>A (p.Leu809Gln)
n.269+2201A>T
16g.88733650G>ACA497366521HSALR1,PIEZO1c.2425C>T (p.Leu809=)
n.269+2202G>A
16g.88733650G>CCA397112215HSALR1,PIEZO1c.2425C>G (p.Leu809Val)
n.269+2202G>C
gnomAD v4
16g.88733650G>TCA397112213HSALR1,PIEZO1c.2425C>A (p.Leu809Met)
n.269+2202G>T
16g.88733651C>ACA497366527HSALR1,PIEZO1c.2424G>T (p.Arg808=)
n.269+2203C>A
gnomAD v4
16g.88733651C=CA2241262025HSALR1,PIEZO1c.2424G= (p.Arg808=)
n.269+2203C=
16g.88733651C>GCA497366528HSALR1,PIEZO1c.2424G>C (p.Arg808=)
n.269+2203C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733651C>TCA497366529HSALR1,PIEZO1c.2424G>A (p.Arg808=)
n.269+2203C>T
gnomAD v4
16g.88733652C>ACA397112218HSALR1,PIEZO1c.2423G>T (p.Arg808Leu)
n.269+2204C>A
dbSNP gnomAD v4
16g.88733652C=CA2241262026HSALR1,PIEZO1c.2423G= (p.Arg808=)
n.269+2204C=
16g.88733652C>GCA397112217HSALR1,PIEZO1c.2423G>C (p.Arg808Pro)
n.269+2204C>G
16g.88733652C>TCA082797HSALR1,PIEZO1c.2423G>A (p.Arg808Gln)
n.269+2204C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.[88733652C>T;88733731C>T;88734844G>C]CA082799HSALR1,PIEZO1c.[1848+31C>G;2344G>A;2423G>A] (p.[Gly782Ser;Arg808Gln])
n.[269+2204C>T;269+2283C>T;270-2977G>C]
16g.88733653G>ACA8232780HSALR1,PIEZO1c.2422C>T (p.Arg808Trp)
n.269+2205G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733653G>CCA397112220HSALR1,PIEZO1c.2422C>G (p.Arg808Gly)
n.269+2205G>C
gnomAD v4
16g.88733653G=CA2241262027HSALR1,PIEZO1c.2422C= (p.Arg808=)
n.269+2205G=
16g.88733653G>TCA497366534HSALR1,PIEZO1c.2422C>A (p.Arg808=)
n.269+2205G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733654C>ACA497366535HSALR1,PIEZO1c.2421G>T (p.Arg807=)
n.269+2206C>A
16g.88733654C=CA2241262028HSALR1,PIEZO1c.2421G= (p.Arg807=)
n.269+2206C=
16g.88733654C>GCA8232781HSALR1,PIEZO1c.2421G>C (p.Arg807=)
n.269+2206C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733654C>TCA497366536HSALR1,PIEZO1c.2421G>A (p.Arg807=)
n.269+2206C>T
gnomAD v4
16g.88733655C>ACA397112223HSALR1,PIEZO1c.2420G>T (p.Arg807Leu)
n.269+2207C>A
gnomAD v4
16g.88733655C=CA2241262029HSALR1,PIEZO1c.2420G= (p.Arg807=)
n.269+2207C=
16g.88733655C>GCA397112224HSALR1,PIEZO1c.2420G>C (p.Arg807Pro)
n.269+2207C>G
16g.88733655C>TCA16620294HSALR1,PIEZO1c.2420G>A (p.Arg807Gln)
n.269+2207C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733656G>ACA8232782HSALR1,PIEZO1c.2419C>T (p.Arg807Trp)
n.269+2208G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733656G>CCA397112225HSALR1,PIEZO1c.2419C>G (p.Arg807Gly)
n.269+2208G>C
gnomAD v4
16g.88733656G=CA2241262030HSALR1,PIEZO1c.2419C= (p.Arg807=)
n.269+2208G=
16g.88733656G>TCA497366538HSALR1,PIEZO1c.2419C>A (p.Arg807=)
n.269+2208G>T
16g.88733657C>ACA497366542HSALR1,PIEZO1c.2418G>T (p.Leu806=)
n.269+2209C>A
16g.88733657C>GCA497366540HSALR1,PIEZO1c.2418G>C (p.Leu806=)
n.269+2209C>G
16g.88733657C>TCA497366539HSALR1,PIEZO1c.2418G>A (p.Leu806=)
n.269+2209C>T
16g.88733658A>CCA397112226HSALR1,PIEZO1c.2417T>G (p.Leu806Arg)
n.269+2210A>C
16g.88733658A>GCA397112227HSALR1,PIEZO1c.2417T>C (p.Leu806Pro)
n.269+2210A>G
16g.88733658A>TCA397112229HSALR1,PIEZO1c.2417T>A (p.Leu806Gln)
n.269+2210A>T
16g.88733658_88733659delinsAGCA2241262031HSALR1,PIEZO1c.2416_2417delinsCT (p.Leu806=)
n.269+2210_269+2211delinsAG
16g.88733659G>ACA497366543HSALR1,PIEZO1c.2416C>T (p.Leu806=)
n.269+2211G>A
dbSNP gnomAD v2 gnomAD v4
16g.88733659G>CCA397112233HSALR1,PIEZO1c.2416C>G (p.Leu806Val)
n.269+2211G>C
16g.88733659G=CA2241262032HSALR1,PIEZO1c.2416C= (p.Leu806=)
n.269+2211G=
16g.88733659G>TCA397112231HSALR1,PIEZO1c.2416C>A (p.Leu806Met)
n.269+2211G>T
dbSNP gnomAD v2 gnomAD v4
16g.88733660delCA725646820HSALR1,PIEZO1c.2416del (p.Leu806CysfsTer22)
n.269+2212del
dbSNP gnomAD v4
16g.88733660G>ACA286422759HSALR1,PIEZO1c.2415C>T (p.Phe805=)
n.269+2212G>A
ClinVar dbSNP gnomAD v4
16g.88733660G>CCA397112235HSALR1,PIEZO1c.2415C>G (p.Phe805Leu)
n.269+2212G>C
gnomAD v4
16g.88733660G=CA2241262033HSALR1,PIEZO1c.2415C= (p.Phe805=)
n.269+2212G=
16g.88733660G>TCA397112237HSALR1,PIEZO1c.2415C>A (p.Phe805Leu)
n.269+2212G>T
ClinVar
16g.88733661A>CCA397112239HSALR1,PIEZO1c.2414T>G (p.Phe805Cys)
n.269+2213A>C
16g.88733661A>GCA397112241HSALR1,PIEZO1c.2414T>C (p.Phe805Ser)
n.269+2213A>G
16g.88733661A>TCA397112242HSALR1,PIEZO1c.2414T>A (p.Phe805Tyr)
n.269+2213A>T
16g.88733662A>CCA397112243HSALR1,PIEZO1c.2413T>G (p.Phe805Val)
n.269+2214A>C
gnomAD v4
16g.88733662A>GCA397112245HSALR1,PIEZO1c.2413T>C (p.Phe805Leu)
n.269+2214A>G
16g.88733662A>TCA397112247HSALR1,PIEZO1c.2413T>A (p.Phe805Ile)
n.269+2214A>T
16g.88733663C>ACA497366553HSALR1,PIEZO1c.2412G>T (p.Val804=)
n.269+2215C>A
16g.88733663C>GCA497366554HSALR1,PIEZO1c.2412G>C (p.Val804=)
n.269+2215C>G
16g.88733663C>TCA497366555HSALR1,PIEZO1c.2412G>A (p.Val804=)
n.269+2215C>T
gnomAD v4
16g.88733664A=CA2241262034HSALR1,PIEZO1c.2411T= (p.Val804=)
n.269+2216A=
16g.88733664A>CCA397112248HSALR1,PIEZO1c.2411T>G (p.Val804Gly)
n.269+2216A>C
16g.88733664A>GCA397112250HSALR1,PIEZO1c.2411T>C (p.Val804Ala)
n.269+2216A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733664A>TCA397112251HSALR1,PIEZO1c.2411T>A (p.Val804Glu)
n.269+2216A>T
dbSNP gnomAD v3 gnomAD v4
16g.88733665C>ACA397112261HSALR1,PIEZO1c.2410G>T (p.Val804Leu)
n.269+2217C>A
16g.88733665C=CA2241262035HSALR1,PIEZO1c.2410G= (p.Val804=)
n.269+2217C=
16g.88733665C>GCA397112263HSALR1,PIEZO1c.2410G>C (p.Val804Leu)
n.269+2217C>G
gnomAD v4
16g.88733665C>TCA8232783HSALR1,PIEZO1c.2410G>A (p.Val804Met)
n.269+2217C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733666delCA2576093097HSALR1,PIEZO1c.2410del (p.Val804CysfsTer24)
n.269+2218del
gnomAD v4
16g.88733666C>ACA397112265HSALR1,PIEZO1c.2409G>T (p.Gln803His)
n.269+2218C>A
gnomAD v4
16g.88733666C=CA2241262036HSALR1,PIEZO1c.2409G= (p.Gln803=)
n.269+2218C=
16g.88733666C>GCA8232784HSALR1,PIEZO1c.2409G>C (p.Gln803His)
n.269+2218C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733666C>TCA497366560HSALR1,PIEZO1c.2409G>A (p.Gln803=)
n.269+2218C>T
dbSNP
16g.88733667T>ACA397112267HSALR1,PIEZO1c.2408A>T (p.Gln803Leu)
n.269+2219T>A
16g.88733667T>CCA397112268HSALR1,PIEZO1c.2408A>G (p.Gln803Arg)
n.269+2219T>C
dbSNP gnomAD v3 gnomAD v4
16g.88733667T>GCA397112269HSALR1,PIEZO1c.2408A>C (p.Gln803Pro)
n.269+2219T>G
dbSNP gnomAD v2 gnomAD v4
16g.88733667T=CA2241262037HSALR1,PIEZO1c.2408A= (p.Gln803=)
n.269+2219T=
16g.88733668G>ACA397112270HSALR1,PIEZO1c.2407C>T (p.Gln803Ter)
n.269+2220G>A
gnomAD v4
16g.88733668G>CCA8232785HSALR1,PIEZO1c.2407C>G (p.Gln803Glu)
n.269+2220G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733668G=CA2241262038HSALR1,PIEZO1c.2407C= (p.Gln803=)
n.269+2220G=
16g.88733668G>TCA397112272HSALR1,PIEZO1c.2407C>A (p.Gln803Lys)
n.269+2220G>T
16g.88733669C>ACA497366564HSALR1,PIEZO1c.2406G>T (p.Val802=)
n.269+2221C>A
16g.88733669C>GCA497366565HSALR1,PIEZO1c.2406G>C (p.Val802=)
n.269+2221C>G
16g.88733669C>TCA497366566HSALR1,PIEZO1c.2406G>A (p.Val802=)
n.269+2221C>T
gnomAD v4
16g.88733670A>CCA397112274HSALR1,PIEZO1c.2405T>G (p.Val802Gly)
n.269+2222A>C
gnomAD v4
16g.88733670A>GCA397112276HSALR1,PIEZO1c.2405T>C (p.Val802Ala)
n.269+2222A>G
16g.88733670A>TCA397112277HSALR1,PIEZO1c.2405T>A (p.Val802Glu)
n.269+2222A>T
16g.88733671C>ACA397112279HSALR1,PIEZO1c.2404G>T (p.Val802Leu)
n.269+2223C>A
gnomAD v4
16g.88733671C=CA2241262039HSALR1,PIEZO1c.2404G= (p.Val802=)
n.269+2223C=
16g.88733671C>GCA397112281HSALR1,PIEZO1c.2404G>C (p.Val802Leu)
n.269+2223C>G
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.88733671C>TCA8232786HSALR1,PIEZO1c.2404G>A (p.Val802Met)
n.269+2223C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733672G>ACA8232787HSALR1,PIEZO1c.2403C>T (p.Arg801=)
n.269+2224G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733672G>CCA286422796HSALR1,PIEZO1c.2403C>G (p.Arg801=)
n.269+2224G>C
dbSNP gnomAD v2 gnomAD v4
16g.88733672G=CA2241262040HSALR1,PIEZO1c.2403C= (p.Arg801=)
n.269+2224G=
16g.88733672G>TCA497366573HSALR1,PIEZO1c.2403C>A (p.Arg801=)
n.269+2224G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733673C>ACA397112283HSALR1,PIEZO1c.2402G>T (p.Arg801Leu)
n.269+2225C>A
16g.88733673C=CA2241262041HSALR1,PIEZO1c.2402G= (p.Arg801=)
n.269+2225C=
16g.88733673C>GCA397112285HSALR1,PIEZO1c.2402G>C (p.Arg801Pro)
n.269+2225C>G
dbSNP gnomAD v2 gnomAD v4
16g.88733673C>TCA397112287HSALR1,PIEZO1c.2402G>A (p.Arg801His)
n.269+2225C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733673_88733674insAACA2576093099HSALR1,PIEZO1c.2401_2402insTT (p.Arg801LeufsTer28)
n.269+2225_269+2226insAA
16g.88733674delCA2576093100HSALR1,PIEZO1c.2401del (p.Arg801AlafsTer27)
n.269+2226del
16g.88733674G>ACA286422806HSALR1,PIEZO1c.2401C>T (p.Arg801Cys)
n.269+2226G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733674G>CCA397112291HSALR1,PIEZO1c.2401C>G (p.Arg801Gly)
n.269+2226G>C
16g.88733674G=CA2241262042HSALR1,PIEZO1c.2401C= (p.Arg801=)
n.269+2226G=
16g.88733674G>TCA397112289HSALR1,PIEZO1c.2401C>A (p.Arg801Ser)
n.269+2226G>T
gnomAD v4
16g.88733675_88733676delCA2634881087HSALR1,PIEZO1c.2400_2401del (p.Val802AlafsTer?)
n.269+2227_269+2228del
gnomAD v4
16g.88733675T>ACA497366576HSALR1,PIEZO1c.2400A>T (p.Ser800=)
n.269+2227T>A
16g.88733675T>CCA497366577HSALR1,PIEZO1c.2400A>G (p.Ser800=)
n.269+2227T>C
dbSNP gnomAD v2 gnomAD v4
16g.88733675T>GCA497366578HSALR1,PIEZO1c.2400A>C (p.Ser800=)
n.269+2227T>G
16g.88733675T=CA2241262044HSALR1,PIEZO1c.2400A= (p.Ser800=)
n.269+2227T=
16g.88733675dupCA980375346HSALR1,PIEZO1c.2400dup (p.Arg801ThrfsTer?)
n.269+2227dup
dbSNP gnomAD v3 gnomAD v4
16g.88733675_88733677delinsTGACA2241262043HSALR1,PIEZO1c.2398_2400delinsTCA (p.Ser800=)
n.269+2227_269+2229delinsTGA
16g.88733676G>ACA286422822HSALR1,PIEZO1c.2399C>T (p.Ser800Leu)
n.269+2228G>A
ClinVar dbSNP gnomAD v4
16g.88733676G>CCA397112294HSALR1,PIEZO1c.2399C>G (p.Ser800Ter)
n.269+2228G>C
16g.88733676G=CA2241262045HSALR1,PIEZO1c.2399C= (p.Ser800=)
n.269+2228G=
16g.88733676G>TCA397112296HSALR1,PIEZO1c.2399C>A (p.Ser800Ter)
n.269+2228G>T
16g.88733679_88733680delCA8232788HSALR1,PIEZO1c.2398_2399del (p.Ser800ThrfsTer?)
n.269+2231_269+2232del
dbSNP ExAC gnomAD v2 gnomAD v4
16g.88733677A>CCA397112298HSALR1,PIEZO1c.2398T>G (p.Ser800Ala)
n.269+2229A>C
16g.88733677A>GCA397112299HSALR1,PIEZO1c.2398T>C (p.Ser800Pro)
n.269+2229A>G
16g.88733677A>TCA397112301HSALR1,PIEZO1c.2398T>A (p.Ser800Thr)
n.269+2229A>T
16g.88733678G>ACA497366586HSALR1,PIEZO1c.2397C>T (p.Leu799=)
n.269+2230G>A
16g.88733678G>CCA497366584HSALR1,PIEZO1c.2397C>G (p.Leu799=)
n.269+2230G>C
gnomAD v4
16g.88733678G>TCA497366585HSALR1,PIEZO1c.2397C>A (p.Leu799=)
n.269+2230G>T
16g.88733679A>CCA397112304HSALR1,PIEZO1c.2396T>G (p.Leu799Arg)
n.269+2231A>C
16g.88733679A>GCA397112306HSALR1,PIEZO1c.2396T>C (p.Leu799Pro)
n.269+2231A>G
16g.88733679A>TCA397112303HSALR1,PIEZO1c.2396T>A (p.Leu799His)
n.269+2231A>T
16g.88733680G>ACA397112307HSALR1,PIEZO1c.2395C>T (p.Leu799Phe)
n.269+2232G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.88733680G>CCA286422823HSALR1,PIEZO1c.2395C>G (p.Leu799Val)
n.269+2232G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733680G=CA2241262046HSALR1,PIEZO1c.2395C= (p.Leu799=)
n.269+2232G=
16g.88733680G>TCA397112309HSALR1,PIEZO1c.2395C>A (p.Leu799Ile)
n.269+2232G>T
gnomAD v4
16g.88733681G>ACA497366589HSALR1,PIEZO1c.2394C>T (p.Val798=)
n.269+2233G>A
dbSNP gnomAD v3 gnomAD v4
16g.88733681G>CCA497366590HSALR1,PIEZO1c.2394C>G (p.Val798=)
n.269+2233G>C
dbSNP gnomAD v2 gnomAD v4
16g.88733681G=CA2241262047HSALR1,PIEZO1c.2394C= (p.Val798=)
n.269+2233G=
16g.88733681G>TCA497366592HSALR1,PIEZO1c.2394C>A (p.Val798=)
n.269+2233G>T
16g.88733682A>CCA397112311HSALR1,PIEZO1c.2393T>G (p.Val798Gly)
n.269+2234A>C
16g.88733682A>GCA397112312HSALR1,PIEZO1c.2393T>C (p.Val798Ala)
n.269+2234A>G
16g.88733682A>TCA397112314HSALR1,PIEZO1c.2393T>A (p.Val798Asp)
n.269+2234A>T
16g.88733683C>ACA397112317HSALR1,PIEZO1c.2392G>T (p.Val798Phe)
n.269+2235C>A
16g.88733683C=CA2241262048HSALR1,PIEZO1c.2392G= (p.Val798=)
n.269+2235C=
16g.88733683C>GCA397112315HSALR1,PIEZO1c.2392G>C (p.Val798Leu)
n.269+2235C>G
16g.88733683C>TCA286422824HSALR1,PIEZO1c.2392G>A (p.Val798Ile)
n.269+2235C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.88733684G>ACA8232789HSALR1,PIEZO1c.2391C>T (p.Asp797=)
n.269+2236G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733684G>CCA397112320HSALR1,PIEZO1c.2391C>G (p.Asp797Glu)
n.269+2236G>C
dbSNP gnomAD v3 gnomAD v4
16g.88733684G=CA2241262049HSALR1,PIEZO1c.2391C= (p.Asp797=)
n.269+2236G=
16g.88733684G>TCA397112321HSALR1,PIEZO1c.2391C>A (p.Asp797Glu)
n.269+2236G>T
16g.88733685T>ACA397112323HSALR1,PIEZO1c.2390A>T (p.Asp797Val)
n.269+2237T>A
16g.88733685T>CCA397112327HSALR1,PIEZO1c.2390A>G (p.Asp797Gly)
n.269+2237T>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733685T>GCA397112329HSALR1,PIEZO1c.2390A>C (p.Asp797Ala)
n.269+2237T>G
16g.88733685T=CA2241262050HSALR1,PIEZO1c.2390A= (p.Asp797=)
n.269+2237T=
16g.88733686C>ACA397112331HSALR1,PIEZO1c.2389G>T (p.Asp797Tyr)
n.269+2238C>A
16g.88733686C>GCA397112333HSALR1,PIEZO1c.2389G>C (p.Asp797His)
n.269+2238C>G
16g.88733686C>TCA397112332HSALR1,PIEZO1c.2389G>A (p.Asp797Asn)
n.269+2238C>T
16g.88733687C>ACA497366600HSALR1,PIEZO1c.2388G>T (p.Ser796=)
n.269+2239C>A
16g.88733687C=CA2241262051HSALR1,PIEZO1c.2388G= (p.Ser796=)
n.269+2239C=
16g.88733687C>GCA497366601HSALR1,PIEZO1c.2388G>C (p.Ser796=)
n.269+2239C>G
dbSNP gnomAD v2 gnomAD v4
16g.88733687C>TCA8232790HSALR1,PIEZO1c.2388G>A (p.Ser796=)
n.269+2239C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733688G>ACA286422834HSALR1,PIEZO1c.2387C>T (p.Ser796Leu)
n.269+2240G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733688G>CCA397112335HSALR1,PIEZO1c.2387C>G (p.Ser796Trp)
n.269+2240G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733688G=CA2241262052HSALR1,PIEZO1c.2387C= (p.Ser796=)
n.269+2240G=
16g.88733688G>TCA397112337HSALR1,PIEZO1c.2387C>A (p.Ser796Ter)
n.269+2240G>T
gnomAD v4
16g.88733689A>CCA397112338HSALR1,PIEZO1c.2386T>G (p.Ser796Ala)
n.269+2241A>C
16g.88733689A>GCA397112339HSALR1,PIEZO1c.2386T>C (p.Ser796Pro)
n.269+2241A>G
16g.88733689A>TCA397112341HSALR1,PIEZO1c.2386T>A (p.Ser796Thr)
n.269+2241A>T
16g.88733690G>ACA286422837HSALR1,PIEZO1c.2385C>T (p.Phe795=)
n.269+2242G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733690G>CCA397112343HSALR1,PIEZO1c.2385C>G (p.Phe795Leu)
n.269+2242G>C
gnomAD v4
16g.88733690G=CA2241262053HSALR1,PIEZO1c.2385C= (p.Phe795=)
n.269+2242G=
16g.88733690G>TCA397112344HSALR1,PIEZO1c.2385C>A (p.Phe795Leu)
n.269+2242G>T
16g.88733691A>CCA397112345HSALR1,PIEZO1c.2384T>G (p.Phe795Cys)
n.269+2243A>C
16g.88733691A>GCA397112347HSALR1,PIEZO1c.2384T>C (p.Phe795Ser)
n.269+2243A>G
gnomAD v4
16g.88733691A>TCA397112348HSALR1,PIEZO1c.2384T>A (p.Phe795Tyr)
n.269+2243A>T
16g.88733692A=CA2241262054HSALR1,PIEZO1c.2383T= (p.Phe795=)
n.269+2244A=
16g.88733692A>CCA397112350HSALR1,PIEZO1c.2383T>G (p.Phe795Val)
n.269+2244A>C
16g.88733692A>GCA397112353HSALR1,PIEZO1c.2383T>C (p.Phe795Leu)
n.269+2244A>G
gnomAD v4
16g.88733692A>TCA397112351HSALR1,PIEZO1c.2383T>A (p.Phe795Ile)
n.269+2244A>T
16g.88733693G>ACA497366421HSALR1,PIEZO1c.2382C>T (p.Gly794=)
n.269+2245G>A
dbSNP gnomAD v3 gnomAD v4
16g.88733693G>CCA497366422HSALR1,PIEZO1c.2382C>G (p.Gly794=)
n.269+2245G>C
dbSNP gnomAD v4
16g.88733693G=CA2241262055HSALR1,PIEZO1c.2382C= (p.Gly794=)
n.269+2245G=
16g.88733693G>TCA497366423HSALR1,PIEZO1c.2382C>A (p.Gly794=)
n.269+2245G>T
dbSNP gnomAD v3 gnomAD v4
16g.88733696_88733702dupCA980375369HSALR1,PIEZO1c.2376_2382dup (p.Phe795SerfsTer?)
n.269+2248_269+2254dup
dbSNP gnomAD v3 gnomAD v4
16g.88733694C>ACA397112354HSALR1,PIEZO1c.2381G>T (p.Gly794Val)
n.269+2246C>A
16g.88733694C>GCA397112356HSALR1,PIEZO1c.2381G>C (p.Gly794Ala)
n.269+2246C>G
16g.88733694C>TCA397112357HSALR1,PIEZO1c.2381G>A (p.Gly794Asp)
n.269+2246C>T
gnomAD v4
16g.88733695C>ACA397112359HSALR1,PIEZO1c.2380G>T (p.Gly794Cys)
n.269+2247C>A
dbSNP
16g.88733695C=CA2241262056HSALR1,PIEZO1c.2380G= (p.Gly794=)
n.269+2247C=
16g.88733695C>GCA397112361HSALR1,PIEZO1c.2380G>C (p.Gly794Arg)
n.269+2247C>G
16g.88733695C>TCA8232791HSALR1,PIEZO1c.2380G>A (p.Gly794Ser)
n.269+2247C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733696G>ACA497366433HSALR1,PIEZO1c.2379C>T (p.Ala793=)
n.269+2248G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733696G>CCA497366434HSALR1,PIEZO1c.2379C>G (p.Ala793=)
n.269+2248G>C
ClinVar dbSNP gnomAD v4
16g.88733696G=CA2241262057HSALR1,PIEZO1c.2379C= (p.Ala793=)
n.269+2248G=
16g.88733696G>TCA497366441HSALR1,PIEZO1c.2379C>A (p.Ala793=)
n.269+2248G>T
dbSNP gnomAD v2 gnomAD v4
16g.88733697G>ACA397112363HSALR1,PIEZO1c.2378C>T (p.Ala793Val)
n.269+2249G>A
gnomAD v4
16g.88733697G>CCA397112364HSALR1,PIEZO1c.2378C>G (p.Ala793Gly)
n.269+2249G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733697G=CA2241262058HSALR1,PIEZO1c.2378C= (p.Ala793=)
n.269+2249G=
16g.88733697G>TCA397112366HSALR1,PIEZO1c.2378C>A (p.Ala793Asp)
n.269+2249G>T
16g.88733698C>ACA397112368HSALR1,PIEZO1c.2377G>T (p.Ala793Ser)
n.269+2250C>A
16g.88733698C>GCA397112369HSALR1,PIEZO1c.2377G>C (p.Ala793Pro)
n.269+2250C>G
16g.88733698C>TCA397112371HSALR1,PIEZO1c.2377G>A (p.Ala793Thr)
n.269+2250C>T
16g.88733699T>ACA497366451HSALR1,PIEZO1c.2376A>T (p.Ala792=)
n.269+2251T>A
16g.88733699T>CCA497366453HSALR1,PIEZO1c.2376A>G (p.Ala792=)
n.269+2251T>C
16g.88733699T>GCA497366452HSALR1,PIEZO1c.2376A>C (p.Ala792=)
n.269+2251T>G
16g.88733700G>ACA286422842HSALR1,PIEZO1c.2375C>T (p.Ala792Val)
n.269+2252G>A
ClinVar dbSNP gnomAD v4
16g.88733700G>CCA397112374HSALR1,PIEZO1c.2375C>G (p.Ala792Gly)
n.269+2252G>C
dbSNP gnomAD v2 gnomAD v4
16g.88733700G=CA2241262059HSALR1,PIEZO1c.2375C= (p.Ala792=)
n.269+2252G=
16g.88733700G>TCA397112373HSALR1,PIEZO1c.2375C>A (p.Ala792Glu)
n.269+2252G>T
16g.88733701C>ACA397112376HSALR1,PIEZO1c.2374G>T (p.Ala792Ser)
n.269+2253C>A
16g.88733701C>GCA397112378HSALR1,PIEZO1c.2374G>C (p.Ala792Pro)
n.269+2253C>G
16g.88733701C>TCA397112380HSALR1,PIEZO1c.2374G>A (p.Ala792Thr)
n.269+2253C>T
gnomAD v4
16g.88733702C>ACA497366461HSALR1,PIEZO1c.2373G>T (p.Leu791=)
n.269+2254C>A
16g.88733702C=CA2241262060HSALR1,PIEZO1c.2373G= (p.Leu791=)
n.269+2254C=
16g.88733702C>GCA497366462HSALR1,PIEZO1c.2373G>C (p.Leu791=)
n.269+2254C>G
16g.88733702C>TCA497366463HSALR1,PIEZO1c.2373G>A (p.Leu791=)
n.269+2254C>T
dbSNP gnomAD v2 gnomAD v4
16g.88733703A>CCA397112382HSALR1,PIEZO1c.2372T>G (p.Leu791Arg)
n.269+2255A>C
16g.88733703A>GCA397112384HSALR1,PIEZO1c.2372T>C (p.Leu791Pro)
n.269+2255A>G
gnomAD v4
16g.88733703A>TCA397112386HSALR1,PIEZO1c.2372T>A (p.Leu791Gln)
n.269+2255A>T
16g.88733704G>ACA286422844HSALR1,PIEZO1c.2371C>T (p.Leu791=)
n.269+2256G>A
dbSNP gnomAD v3 gnomAD v4
16g.88733704G>CCA397112387HSALR1,PIEZO1c.2371C>G (p.Leu791Val)
n.269+2256G>C
16g.88733704G=CA2241262061HSALR1,PIEZO1c.2371C= (p.Leu791=)
n.269+2256G=
16g.88733704G>TCA397112389HSALR1,PIEZO1c.2371C>A (p.Leu791Met)
n.269+2256G>T
16g.88733705C>ACA397112391HSALR1,PIEZO1c.2370G>T (p.Glu790Asp)
n.269+2257C>A
16g.88733705C>GCA397112394HSALR1,PIEZO1c.2370G>C (p.Glu790Asp)
n.269+2257C>G
gnomAD v4
16g.88733705C>TCA497366464HSALR1,PIEZO1c.2370G>A (p.Glu790=)
n.269+2257C>T
gnomAD v4
16g.88733706T>ACA397112396HSALR1,PIEZO1c.2369A>T (p.Glu790Val)
n.269+2258T>A
16g.88733706T>CCA397112397HSALR1,PIEZO1c.2369A>G (p.Glu790Gly)
n.269+2258T>C
16g.88733706T>GCA397112398HSALR1,PIEZO1c.2369A>C (p.Glu790Ala)
n.269+2258T>G
16g.88733707C>ACA397112399HSALR1,PIEZO1c.2368G>T (p.Glu790Ter)
n.269+2259C>A
gnomAD v4
16g.88733707C=CA2241262062HSALR1,PIEZO1c.2368G= (p.Glu790=)
n.269+2259C=
16g.88733707C>GCA397112400HSALR1,PIEZO1c.2368G>C (p.Glu790Gln)
n.269+2259C>G
16g.88733707C>TCA8232792HSALR1,PIEZO1c.2368G>A (p.Glu790Lys)
n.269+2259C>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.88733708C>ACA497366471HSALR1,PIEZO1c.2367G>T (p.Leu789=)
n.269+2260C>A
16g.88733708C=CA2241262063HSALR1,PIEZO1c.2367G= (p.Leu789=)
n.269+2260C=
16g.88733708C>GCA286422853HSALR1,PIEZO1c.2367G>C (p.Leu789=)
n.269+2260C>G
dbSNP gnomAD v4
16g.88733708C>TCA497366472HSALR1,PIEZO1c.2367G>A (p.Leu789=)
n.269+2260C>T
dbSNP
16g.88733709A=CA2241262064HSALR1,PIEZO1c.2366T= (p.Leu789=)
n.269+2261A=
16g.88733709A>CCA397112403HSALR1,PIEZO1c.2366T>G (p.Leu789Arg)
n.269+2261A>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733709A>GCA397112402HSALR1,PIEZO1c.2366T>C (p.Leu789Pro)
n.269+2261A>G
16g.88733709A>TCA397112405HSALR1,PIEZO1c.2366T>A (p.Leu789Gln)
n.269+2261A>T
16g.88733710G>ACA8232793HSALR1,PIEZO1c.2365C>T (p.Leu789=)
n.269+2262G>A
dbSNP ExAC gnomAD v2 gnomAD v4
16g.88733710G>CCA397112407HSALR1,PIEZO1c.2365C>G (p.Leu789Val)
n.269+2262G>C
dbSNP gnomAD v2
16g.88733710G=CA2241262065HSALR1,PIEZO1c.2365C= (p.Leu789=)
n.269+2262G=
16g.88733710G>TCA397112408HSALR1,PIEZO1c.2365C>A (p.Leu789Met)
n.269+2262G>T
gnomAD v4
16g.88733711C>ACA497366480HSALR1,PIEZO1c.2364G>T (p.Leu788=)
n.269+2263C>A
16g.88733711C=CA2241262066HSALR1,PIEZO1c.2364G= (p.Leu788=)
n.269+2263C=
16g.88733711C>GCA497366482HSALR1,PIEZO1c.2364G>C (p.Leu788=)
n.269+2263C>G
16g.88733711C>TCA497366481HSALR1,PIEZO1c.2364G>A (p.Leu788=)
n.269+2263C>T
dbSNP gnomAD v3 gnomAD v4
16g.88733712A>CCA397112409HSALR1,PIEZO1c.2363T>G (p.Leu788Arg)
n.269+2264A>C
16g.88733712A>GCA397112411HSALR1,PIEZO1c.2363T>C (p.Leu788Pro)
n.269+2264A>G
16g.88733712A>TCA397112414HSALR1,PIEZO1c.2363T>A (p.Leu788Gln)
n.269+2264A>T
16g.88733713G>ACA497366485HSALR1,PIEZO1c.2362C>T (p.Leu788=)
n.269+2265G>A
16g.88733713G>CCA397112416HSALR1,PIEZO1c.2362C>G (p.Leu788Val)
n.269+2265G>C
16g.88733713G>TCA397112418HSALR1,PIEZO1c.2362C>A (p.Leu788Met)
n.269+2265G>T
16g.88733714C>ACA497366488HSALR1,PIEZO1c.2361G>T (p.Arg787=)
n.269+2266C>A
gnomAD v4
16g.88733714C=CA2241262067HSALR1,PIEZO1c.2361G= (p.Arg787=)
n.269+2266C=
16g.88733714C>GCA8232794HSALR1,PIEZO1c.2361G>C (p.Arg787=)
n.269+2266C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733714C>TCA497366489HSALR1,PIEZO1c.2361G>A (p.Arg787=)
n.269+2266C>T
dbSNP gnomAD v3 gnomAD v4
16g.88733715C>ACA397112421HSALR1,PIEZO1c.2360G>T (p.Arg787Leu)
n.269+2267C>A
gnomAD v4
16g.88733715C=CA2241262068HSALR1,PIEZO1c.2360G= (p.Arg787=)
n.269+2267C=
16g.88733715C>GCA397112423HSALR1,PIEZO1c.2360G>C (p.Arg787Pro)
n.269+2267C>G
16g.88733715C>TCA397112425HSALR1,PIEZO1c.2360G>A (p.Arg787Gln)
n.269+2267C>T
dbSNP gnomAD v2 gnomAD v4
16g.88733716G>ACA286422865HSALR1,PIEZO1c.2359C>T (p.Arg787Trp)
n.269+2268G>A
dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.88733716G>CCA397112426HSALR1,PIEZO1c.2359C>G (p.Arg787Gly)
n.269+2268G>C
16g.88733716G=CA2241262069HSALR1,PIEZO1c.2359C= (p.Arg787=)
n.269+2268G=
16g.88733716G>TCA497366495HSALR1,PIEZO1c.2359C>A (p.Arg787=)
n.269+2268G>T
gnomAD v4
16g.88733717C>ACA397112427HSALR1,PIEZO1c.2358G>T (p.Glu786Asp)
n.269+2269C>A
16g.88733717C=CA2241262070HSALR1,PIEZO1c.2358G= (p.Glu786=)
n.269+2269C=
16g.88733717C>GCA397112428HSALR1,PIEZO1c.2358G>C (p.Glu786Asp)
n.269+2269C>G
16g.88733717C>TCA286422875HSALR1,PIEZO1c.2358G>A (p.Glu786=)
n.269+2269C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733718T>ACA397112429HSALR1,PIEZO1c.2357A>T (p.Glu786Val)
n.269+2270T>A
16g.88733718T>CCA397112430HSALR1,PIEZO1c.2357A>G (p.Glu786Gly)
n.269+2270T>C
16g.88733718T>GCA397112431HSALR1,PIEZO1c.2357A>C (p.Glu786Ala)
n.269+2270T>G
16g.88733719C>ACA397112433HSALR1,PIEZO1c.2356G>T (p.Glu786Ter)
n.269+2271C>A
dbSNP gnomAD v3 gnomAD v4
16g.88733719C=CA2241262071HSALR1,PIEZO1c.2356G= (p.Glu786=)
n.269+2271C=
16g.88733719C>GCA397112435HSALR1,PIEZO1c.2356G>C (p.Glu786Gln)
n.269+2271C>G
16g.88733719C>TCA397112436HSALR1,PIEZO1c.2356G>A (p.Glu786Lys)
n.269+2271C>T
dbSNP
16g.88733720A=CA2241262072HSALR1,PIEZO1c.2355T= (p.Ala785=)
n.269+2272A=
16g.88733720A>CCA497366499HSALR1,PIEZO1c.2355T>G (p.Ala785=)
n.269+2272A>C
16g.88733720A>GCA8232795HSALR1,PIEZO1c.2355T>C (p.Ala785=)
n.269+2272A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88733720A>TCA497366501HSALR1,PIEZO1c.2355T>A (p.Ala785=)
n.269+2272A>T
16g.88733721G>ACA397112439HSALR1,PIEZO1c.2354C>T (p.Ala785Val)
n.269+2273G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733721G>CCA397112441HSALR1,PIEZO1c.2354C>G (p.Ala785Gly)
n.269+2273G>C
gnomAD v4
16g.88733721G=CA2241262073HSALR1,PIEZO1c.2354C= (p.Ala785=)
n.269+2273G=
16g.88733721G>TCA397112442HSALR1,PIEZO1c.2354C>A (p.Ala785Asp)
n.269+2273G>T
gnomAD v4
16g.88733722C>ACA397112446HSALR1,PIEZO1c.2353G>T (p.Ala785Ser)
n.269+2274C>A
gnomAD v4
16g.88733722C>GCA397112445HSALR1,PIEZO1c.2353G>C (p.Ala785Pro)
n.269+2274C>G
16g.88733722C>TCA397112444HSALR1,PIEZO1c.2353G>A (p.Ala785Thr)
n.269+2274C>T
16g.88733723C>ACA497366502HSALR1,PIEZO1c.2352G>T (p.Val784=)
n.269+2275C>A
16g.88733723C=CA2241262074HSALR1,PIEZO1c.2352G= (p.Val784=)
n.269+2275C=
16g.88733723C>GCA497366503HSALR1,PIEZO1c.2352G>C (p.Val784=)
n.269+2275C>G
16g.88733723C>TCA497366505HSALR1,PIEZO1c.2352G>A (p.Val784=)
n.269+2275C>T
dbSNP gnomAD v4
16g.88733724A>CCA397112447HSALR1,PIEZO1c.2351T>G (p.Val784Gly)
n.269+2276A>C
16g.88733724A>GCA397112448HSALR1,PIEZO1c.2351T>C (p.Val784Ala)
n.269+2276A>G
16g.88733724A>TCA397112449HSALR1,PIEZO1c.2351T>A (p.Val784Glu)
n.269+2276A>T
16g.88733725C>ACA397112450HSALR1,PIEZO1c.2350G>T (p.Val784Leu)
n.269+2277C>A
16g.88733725C>GCA397112452HSALR1,PIEZO1c.2350G>C (p.Val784Leu)
n.269+2277C>G
16g.88733725C>TCA397112454HSALR1,PIEZO1c.2350G>A (p.Val784Met)
n.269+2277C>T
gnomAD v4
16g.88733726C>ACA497366515HSALR1,PIEZO1c.2349G>T (p.Leu783=)
n.269+2278C>A
16g.88733726C=CA2241262075HSALR1,PIEZO1c.2349G= (p.Leu783=)
n.269+2278C=
16g.88733726C>GCA497366509HSALR1,PIEZO1c.2349G>C (p.Leu783=)
n.269+2278C>G
dbSNP gnomAD v4
16g.88733726C>TCA497366511HSALR1,PIEZO1c.2349G>A (p.Leu783=)
n.269+2278C>T
dbSNP gnomAD v3 gnomAD v4
16g.88733727A>CCA397112459HSALR1,PIEZO1c.2348T>G (p.Leu783Arg)
n.269+2279A>C
16g.88733727A>GCA397112455HSALR1,PIEZO1c.2348T>C (p.Leu783Pro)
n.269+2279A>G
16g.88733727A>TCA397112457HSALR1,PIEZO1c.2348T>A (p.Leu783Gln)
n.269+2279A>T
16g.88733728G>ACA497366520HSALR1,PIEZO1c.2347C>T (p.Leu783=)
n.269+2280G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733728G>CCA397112461HSALR1,PIEZO1c.2347C>G (p.Leu783Val)
n.269+2280G>C
gnomAD v4
16g.88733728G=CA2241262076HSALR1,PIEZO1c.2347C= (p.Leu783=)
n.269+2280G=
16g.88733728G>TCA8232796HSALR1,PIEZO1c.2347C>A (p.Leu783Met)
n.269+2280G>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.88733729G>ACA286422896HSALR1,PIEZO1c.2346C>T (p.Gly782=)
n.269+2281G>A
dbSNP gnomAD v3 gnomAD v4
16g.88733729G>CCA497366522HSALR1,PIEZO1c.2346C>G (p.Gly782=)
n.269+2281G>C
dbSNP
16g.88733729G=CA2241262077HSALR1,PIEZO1c.2346C= (p.Gly782=)
n.269+2281G=
16g.88733729G>TCA497366523HSALR1,PIEZO1c.2346C>A (p.Gly782=)
n.269+2281G>T
16g.88733730C>ACA397112463HSALR1,PIEZO1c.2345G>T (p.Gly782Val)
n.269+2282C>A
16g.88733730C=CA2241262078HSALR1,PIEZO1c.2345G= (p.Gly782=)
n.269+2282C=
16g.88733730C>GCA397112466HSALR1,PIEZO1c.2345G>C (p.Gly782Ala)
n.269+2282C>G
16g.88733730C>TCA286422897HSALR1,PIEZO1c.2345G>A (p.Gly782Asp)
n.269+2282C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88733731C>ACA397112468HSALR1,PIEZO1c.2344G>T (p.Gly782Cys)
n.269+2283C>A
dbSNP gnomAD v2 gnomAD v4
16g.88733731C=CA2241262079HSALR1,PIEZO1c.2344G= (p.Gly782=)
n.269+2283C=
16g.88733731C>GCA397112469HSALR1,PIEZO1c.2344G>C (p.Gly782Arg)
n.269+2283C>G
16g.88733731C>TCA082796HSALR1,PIEZO1c.2344G>A (p.Gly782Ser)
n.269+2283C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.88733732C>ACA397112471HSALR1,PIEZO1c.2343G>T (p.Trp781Cys)
n.269+2284C>A
16g.88733732C=CA2241262080HSALR1,PIEZO1c.2343G= (p.Trp781=)
n.269+2284C=
16g.88733732C>GCA397112473HSALR1,PIEZO1c.2343G>C (p.Trp781Cys)
n.269+2284C>G
gnomAD v4
16g.88733732C>TCA397112474HSALR1,PIEZO1c.2343G>A (p.Trp781Ter)
n.269+2284C>T
dbSNP gnomAD v3 gnomAD v4
16g.88733733C>ACA397112476HSALR1,PIEZO1c.2342G>T (p.Trp781Leu)
n.269+2285C>A
gnomAD v4
16g.88733733C>GCA397112477HSALR1,PIEZO1c.2342G>C (p.Trp781Ser)
n.269+2285C>G
16g.88733733C>TCA397112478HSALR1,PIEZO1c.2342G>A (p.Trp781Ter)
n.269+2285C>T
gnomAD v4
16g.88733734A>CCA397112480HSALR1,PIEZO1c.2341T>G (p.Trp781Gly)
n.269+2286A>C
16g.88733734A>GCA397112482HSALR1,PIEZO1c.2341T>C (p.Trp781Arg)
n.269+2286A>G
gnomAD v4
16g.88733734A>TCA397112483HSALR1,PIEZO1c.2341T>A (p.Trp781Arg)
n.269+2286A>T
gnomAD v4
16g.88733735C>ACA397112485HSALR1,PIEZO1c.2340G>T (p.Lys780Asn)
n.269+2287C>A
gnomAD v4
16g.88733735C>GCA397112487HSALR1,PIEZO1c.2340G>C (p.Lys780Asn)
n.269+2287C>G
gnomAD v4
16g.88733735C>TCA497366537HSALR1,PIEZO1c.2340G>A (p.Lys780=)
n.269+2287C>T
16g.88733736T>ACA397112490HSALR1,PIEZO1c.2339A>T (p.Lys780Met)
n.269+2288T>A
16g.88733736T>CCA397112492HSALR1,PIEZO1c.2339A>G (p.Lys780Arg)
n.269+2288T>C
16g.88733736T>GCA397112489HSALR1,PIEZO1c.2339A>C (p.Lys780Thr)
n.269+2288T>G
16g.88733737T>ACA397112496HSALR1,PIEZO1c.2338A>T (p.Lys780Ter)
n.269+2289T>A
16g.88733737T>CCA397112494HSALR1,PIEZO1c.2338A>G (p.Lys780Glu)
n.269+2289T>C
16g.88733737T>GCA397112498HSALR1,PIEZO1c.2338A>C (p.Lys780Gln)
n.269+2289T>G
ClinVar
16g.88733738G>ACA497366544HSALR1,PIEZO1c.2337C>T (p.Ala779=)
n.269+2290G>A
dbSNP gnomAD v2 gnomAD v4
16g.88733738G>CCA497366545HSALR1,PIEZO1c.2337C>G (p.Ala779=)
n.269+2290G>C
dbSNP
16g.88733738G=CA2241262081HSALR1,PIEZO1c.2337C= (p.Ala779=)
n.269+2290G=
16g.88733738G>TCA286422899HSALR1,PIEZO1c.2337C>A (p.Ala779=)
n.269+2290G>T
dbSNP gnomAD v3 gnomAD v4
16g.88733739G>ACA397112499HSALR1,PIEZO1c.2336C>T (p.Ala779Val)
n.269+2291G>A
16g.88733739G>CCA397112501HSALR1,PIEZO1c.2336C>G (p.Ala779Gly)
n.269+2291G>C
16g.88733739G>TCA397112502HSALR1,PIEZO1c.2336C>A (p.Ala779Asp)
n.269+2291G>T
gnomAD v4
16g.88733740C>ACA397112505HSALR1,PIEZO1c.2335G>T (p.Ala779Ser)
n.269+2292C>A
gnomAD v4
16g.88733740C>GCA397112506HSALR1,PIEZO1c.2335G>C (p.Ala779Pro)
n.269+2292C>G
gnomAD v4
16g.88733740C>TCA397112508HSALR1,PIEZO1c.2335G>A (p.Ala779Thr)
n.269+2292C>T
gnomAD v4
16g.88733741T>ACA497366549HSALR1,PIEZO1c.2334A>T (p.Ala778=)
n.269+2293T>A
16g.88733741T>CCA497366550HSALR1,PIEZO1c.2334A>G (p.Ala778=)
n.269+2293T>C
gnomAD v4
16g.88733741T>GCA497366551HSALR1,PIEZO1c.2334A>C (p.Ala778=)
n.269+2293T>G
16g.88733742G>ACA397112510HSALR1,PIEZO1c.2333C>T (p.Ala778Val)
n.269+2294G>A
dbSNP gnomAD v4
16g.88733742G>CCA397112512HSALR1,PIEZO1c.2333C>G (p.Ala778Gly)
n.269+2294G>C
gnomAD v4
16g.88733742G=CA2241262082HSALR1,PIEZO1c.2333C= (p.Ala778=)
n.269+2294G=
16g.88733742G>TCA397112513HSALR1,PIEZO1c.2333C>A (p.Ala778Glu)
n.269+2294G>T

Number of alleles fetched