WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22276125G>A | CA5923587 | ANO5 | n.463G>A c.1996G>A (p.Glu666Lys) c.2404G>A (p.Glu802Lys) c.2372+1378G>A (n.2372+1378G>A) n.3440G>A c.2401G>A (p.Glu801Lys) c.2446G>A (p.Glu816Lys) n.2781G>A c.2443G>A (p.Glu815Lys) c.2368G>A (p.Glu790Lys) c.2365G>A (p.Glu789Lys) c.2353G>A (p.Glu785Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22276125G>C | CA379924560 | ANO5 | n.463G>C c.1996G>C (p.Glu666Gln) c.2404G>C (p.Glu802Gln) c.2372+1378G>C (n.2372+1378G>C) n.3440G>C c.2401G>C (p.Glu801Gln) c.2446G>C (p.Glu816Gln) n.2781G>C c.2443G>C (p.Glu815Gln) c.2368G>C (p.Glu790Gln) c.2365G>C (p.Glu789Gln) c.2353G>C (p.Glu785Gln) | |
| 11 | g.22276125G= | CA1957408337 | ANO5 | n.463G= c.1996G= (p.Glu666=) c.2404G= (p.Glu802=) c.2372+1378G= (n.2372+1378G=) n.3440G= c.2401G= (p.Glu801=) c.2446G= (p.Glu816=) n.2781G= c.2443G= (p.Glu815=) c.2368G= (p.Glu790=) c.2365G= (p.Glu789=) c.2353G= (p.Glu785=) | |
| 11 | g.22276125G>T | CA5923586 | ANO5 | n.463G>T c.1996G>T (p.Glu666Ter) c.2404G>T (p.Glu802Ter) c.2372+1378G>T (n.2372+1378G>T) n.3440G>T c.2401G>T (p.Glu801Ter) c.2446G>T (p.Glu816Ter) n.2781G>T c.2443G>T (p.Glu815Ter) c.2368G>T (p.Glu790Ter) c.2365G>T (p.Glu789Ter) c.2353G>T (p.Glu785Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22276126A>C | CA379924561 | ANO5 | n.464A>C c.1997A>C (p.Glu666Ala) c.2405A>C (p.Glu802Ala) c.2372+1379A>C (n.2372+1379A>C) n.3441A>C c.2402A>C (p.Glu801Ala) c.2447A>C (p.Glu816Ala) n.2782A>C c.2444A>C (p.Glu815Ala) c.2369A>C (p.Glu790Ala) c.2366A>C (p.Glu789Ala) c.2354A>C (p.Glu785Ala) | |
| 11 | g.22276126A>G | CA379924562 | ANO5 | n.464A>G c.1997A>G (p.Glu666Gly) c.2405A>G (p.Glu802Gly) c.2372+1379A>G (n.2372+1379A>G) n.3441A>G c.2402A>G (p.Glu801Gly) c.2447A>G (p.Glu816Gly) n.2782A>G c.2444A>G (p.Glu815Gly) c.2369A>G (p.Glu790Gly) c.2366A>G (p.Glu789Gly) c.2354A>G (p.Glu785Gly) | |
| 11 | g.22276126A>T | CA379924563 | ANO5 | n.464A>T c.1997A>T (p.Glu666Val) c.2405A>T (p.Glu802Val) c.2372+1379A>T (n.2372+1379A>T) n.3441A>T c.2402A>T (p.Glu801Val) c.2447A>T (p.Glu816Val) n.2782A>T c.2444A>T (p.Glu815Val) c.2369A>T (p.Glu790Val) c.2366A>T (p.Glu789Val) c.2354A>T (p.Glu785Val) | |
| 11 | g.22276127G>A | CA5923588 | ANO5 | n.465G>A c.1998G>A (p.Glu666=) c.2406G>A (p.Glu802=) c.2372+1380G>A (n.2372+1380G>A) n.3442G>A c.2403G>A (p.Glu801=) c.2448G>A (p.Glu816=) n.2783G>A c.2445G>A (p.Glu815=) c.2370G>A (p.Glu790=) c.2367G>A (p.Glu789=) c.2355G>A (p.Glu785=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22276127G>C | CA5923589 | ANO5 | n.465G>C c.1998G>C (p.Glu666Asp) c.2406G>C (p.Glu802Asp) c.2372+1380G>C (n.2372+1380G>C) n.3442G>C c.2403G>C (p.Glu801Asp) c.2448G>C (p.Glu816Asp) n.2783G>C c.2445G>C (p.Glu815Asp) c.2370G>C (p.Glu790Asp) c.2367G>C (p.Glu789Asp) c.2355G>C (p.Glu785Asp) | dbSNP ExAC gnomAD v2 |
| 11 | g.22276127G= | CA1957408345 | ANO5 | n.465G= c.1998G= (p.Glu666=) c.2406G= (p.Glu802=) c.2372+1380G= (n.2372+1380G=) n.3442G= c.2403G= (p.Glu801=) c.2448G= (p.Glu816=) n.2783G= c.2445G= (p.Glu815=) c.2370G= (p.Glu790=) c.2367G= (p.Glu789=) c.2355G= (p.Glu785=) | |
| 11 | g.22276127G>T | CA379924564 | ANO5 | n.465G>T c.1998G>T (p.Glu666Asp) c.2406G>T (p.Glu802Asp) c.2372+1380G>T (n.2372+1380G>T) n.3442G>T c.2403G>T (p.Glu801Asp) c.2448G>T (p.Glu816Asp) n.2783G>T c.2445G>T (p.Glu815Asp) c.2370G>T (p.Glu790Asp) c.2367G>T (p.Glu789Asp) c.2355G>T (p.Glu785Asp) | |
| 11 | g.22276128A>C | CA379924565 | ANO5 | n.466A>C c.1999A>C (p.Asn667His) c.2407A>C (p.Asn803His) c.2372+1381A>C (n.2372+1381A>C) n.3443A>C c.2404A>C (p.Asn802His) c.2449A>C (p.Asn817His) n.2784A>C c.2446A>C (p.Asn816His) c.2371A>C (p.Asn791His) c.2368A>C (p.Asn790His) c.2356A>C (p.Asn786His) | |
| 11 | g.22276128A>G | CA379924566 | ANO5 | n.466A>G c.1999A>G (p.Asn667Asp) c.2407A>G (p.Asn803Asp) c.2372+1381A>G (n.2372+1381A>G) n.3443A>G c.2404A>G (p.Asn802Asp) c.2449A>G (p.Asn817Asp) n.2784A>G c.2446A>G (p.Asn816Asp) c.2371A>G (p.Asn791Asp) c.2368A>G (p.Asn790Asp) c.2356A>G (p.Asn786Asp) | |
| 11 | g.22276128A>T | CA379924567 | ANO5 | n.466A>T c.1999A>T (p.Asn667Tyr) c.2407A>T (p.Asn803Tyr) c.2372+1381A>T (n.2372+1381A>T) n.3443A>T c.2404A>T (p.Asn802Tyr) c.2449A>T (p.Asn817Tyr) n.2784A>T c.2446A>T (p.Asn816Tyr) c.2371A>T (p.Asn791Tyr) c.2368A>T (p.Asn790Tyr) c.2356A>T (p.Asn786Tyr) | |
| 11 | g.22276129A>C | CA379924568 | ANO5 | n.467A>C c.2000A>C (p.Asn667Thr) c.2408A>C (p.Asn803Thr) c.2372+1382A>C (n.2372+1382A>C) n.3444A>C c.2405A>C (p.Asn802Thr) c.2450A>C (p.Asn817Thr) n.2785A>C c.2447A>C (p.Asn816Thr) c.2372A>C (p.Asn791Thr) c.2369A>C (p.Asn790Thr) c.2357A>C (p.Asn786Thr) | |
| 11 | g.22276129A>G | CA379924569 | ANO5 | n.467A>G c.2000A>G (p.Asn667Ser) c.2408A>G (p.Asn803Ser) c.2372+1382A>G (n.2372+1382A>G) n.3444A>G c.2405A>G (p.Asn802Ser) c.2450A>G (p.Asn817Ser) n.2785A>G c.2447A>G (p.Asn816Ser) c.2372A>G (p.Asn791Ser) c.2369A>G (p.Asn790Ser) c.2357A>G (p.Asn786Ser) | |
| 11 | g.22276129A>T | CA379924570 | ANO5 | n.467A>T c.2000A>T (p.Asn667Ile) c.2408A>T (p.Asn803Ile) c.2372+1382A>T (n.2372+1382A>T) n.3444A>T c.2405A>T (p.Asn802Ile) c.2450A>T (p.Asn817Ile) n.2785A>T c.2447A>T (p.Asn816Ile) c.2372A>T (p.Asn791Ile) c.2369A>T (p.Asn790Ile) c.2357A>T (p.Asn786Ile) | |
| 11 | g.22276130T>A | CA379924571 | ANO5 | n.468T>A c.2001T>A (p.Asn667Lys) c.2409T>A (p.Asn803Lys) c.2372+1383T>A (n.2372+1383T>A) n.3445T>A c.2406T>A (p.Asn802Lys) c.2451T>A (p.Asn817Lys) n.2786T>A c.2448T>A (p.Asn816Lys) c.2373T>A (p.Asn791Lys) c.2370T>A (p.Asn790Lys) c.2358T>A (p.Asn786Lys) | |
| 11 | g.22276130T>C | CA473408930 | ANO5 | n.468T>C c.2001T>C (p.Asn667=) c.2409T>C (p.Asn803=) c.2372+1383T>C (n.2372+1383T>C) n.3445T>C c.2406T>C (p.Asn802=) c.2451T>C (p.Asn817=) n.2786T>C c.2448T>C (p.Asn816=) c.2373T>C (p.Asn791=) c.2370T>C (p.Asn790=) c.2358T>C (p.Asn786=) | |
| 11 | g.22276130T>G | CA379924572 | ANO5 | n.468T>G c.2001T>G (p.Asn667Lys) c.2409T>G (p.Asn803Lys) c.2372+1383T>G (n.2372+1383T>G) n.3445T>G c.2406T>G (p.Asn802Lys) c.2451T>G (p.Asn817Lys) n.2786T>G c.2448T>G (p.Asn816Lys) c.2373T>G (p.Asn791Lys) c.2370T>G (p.Asn790Lys) c.2358T>G (p.Asn786Lys) | |
| 11 | g.22276131A= | CA1957408349 | ANO5 | n.469A= c.2002A= (p.Lys668=) c.2410A= (p.Lys804=) c.2372+1384A= (n.2372+1384A=) n.3446A= c.2407A= (p.Lys803=) c.2452A= (p.Lys818=) n.2787A= c.2449A= (p.Lys817=) c.2374A= (p.Lys792=) c.2371A= (p.Lys791=) c.2359A= (p.Lys787=) | |
| 11 | g.22276131A>C | CA379924573 | ANO5 | n.469A>C c.2002A>C (p.Lys668Gln) c.2410A>C (p.Lys804Gln) c.2372+1384A>C (n.2372+1384A>C) n.3446A>C c.2407A>C (p.Lys803Gln) c.2452A>C (p.Lys818Gln) n.2787A>C c.2449A>C (p.Lys817Gln) c.2374A>C (p.Lys792Gln) c.2371A>C (p.Lys791Gln) c.2359A>C (p.Lys787Gln) | |
| 11 | g.22276131A>G | CA379924574 | ANO5 | n.469A>G c.2002A>G (p.Lys668Glu) c.2410A>G (p.Lys804Glu) c.2372+1384A>G (n.2372+1384A>G) n.3446A>G c.2407A>G (p.Lys803Glu) c.2452A>G (p.Lys818Glu) n.2787A>G c.2449A>G (p.Lys817Glu) c.2374A>G (p.Lys792Glu) c.2371A>G (p.Lys791Glu) c.2359A>G (p.Lys787Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.22276131A>T | CA379924575 | ANO5 | n.469A>T c.2002A>T (p.Lys668Ter) c.2410A>T (p.Lys804Ter) c.2372+1384A>T (n.2372+1384A>T) n.3446A>T c.2407A>T (p.Lys803Ter) c.2452A>T (p.Lys818Ter) n.2787A>T c.2449A>T (p.Lys817Ter) c.2374A>T (p.Lys792Ter) c.2371A>T (p.Lys791Ter) c.2359A>T (p.Lys787Ter) | |
| 11 | g.22276132A>C | CA379924578 | ANO5 | n.470A>C c.2003A>C (p.Lys668Thr) c.2411A>C (p.Lys804Thr) c.2372+1385A>C (n.2372+1385A>C) n.3447A>C c.2408A>C (p.Lys803Thr) c.2453A>C (p.Lys818Thr) n.2788A>C c.2450A>C (p.Lys817Thr) c.2375A>C (p.Lys792Thr) c.2372A>C (p.Lys791Thr) c.2360A>C (p.Lys787Thr) | |
| 11 | g.22276132A>G | CA379924576 | ANO5 | n.470A>G c.2003A>G (p.Lys668Arg) c.2411A>G (p.Lys804Arg) c.2372+1385A>G (n.2372+1385A>G) n.3447A>G c.2408A>G (p.Lys803Arg) c.2453A>G (p.Lys818Arg) n.2788A>G c.2450A>G (p.Lys817Arg) c.2375A>G (p.Lys792Arg) c.2372A>G (p.Lys791Arg) c.2360A>G (p.Lys787Arg) | |
| 11 | g.22276132A>T | CA379924577 | ANO5 | n.470A>T c.2003A>T (p.Lys668Ile) c.2411A>T (p.Lys804Ile) c.2372+1385A>T (n.2372+1385A>T) n.3447A>T c.2408A>T (p.Lys803Ile) c.2453A>T (p.Lys818Ile) n.2788A>T c.2450A>T (p.Lys817Ile) c.2375A>T (p.Lys792Ile) c.2372A>T (p.Lys791Ile) c.2360A>T (p.Lys787Ile) | |
| 11 | g.22276133A= | CA1957408351 | ANO5 | n.471A= c.2004A= (p.Lys668=) c.2412A= (p.Lys804=) c.2372+1386A= (n.2372+1386A=) n.3448A= c.2409A= (p.Lys803=) c.2454A= (p.Lys818=) n.2789A= c.2451A= (p.Lys817=) c.2376A= (p.Lys792=) c.2373A= (p.Lys791=) c.2361A= (p.Lys787=) | |
| 11 | g.22276133A>C | CA379924579 | ANO5 | n.471A>C c.2004A>C (p.Lys668Asn) c.2412A>C (p.Lys804Asn) c.2372+1386A>C (n.2372+1386A>C) n.3448A>C c.2409A>C (p.Lys803Asn) c.2454A>C (p.Lys818Asn) n.2789A>C c.2451A>C (p.Lys817Asn) c.2376A>C (p.Lys792Asn) c.2373A>C (p.Lys791Asn) c.2361A>C (p.Lys787Asn) | |
| 11 | g.22276133A>G | CA473408940 | ANO5 | n.471A>G c.2004A>G (p.Lys668=) c.2412A>G (p.Lys804=) c.2372+1386A>G (n.2372+1386A>G) n.3448A>G c.2409A>G (p.Lys803=) c.2454A>G (p.Lys818=) n.2789A>G c.2451A>G (p.Lys817=) c.2376A>G (p.Lys792=) c.2373A>G (p.Lys791=) c.2361A>G (p.Lys787=) | dbSNP gnomAD v4 |
| 11 | g.22276133A>T | CA379924580 | ANO5 | n.471A>T c.2004A>T (p.Lys668Asn) c.2412A>T (p.Lys804Asn) c.2372+1386A>T (n.2372+1386A>T) n.3448A>T c.2409A>T (p.Lys803Asn) c.2454A>T (p.Lys818Asn) n.2789A>T c.2451A>T (p.Lys817Asn) c.2376A>T (p.Lys792Asn) c.2373A>T (p.Lys791Asn) c.2361A>T (p.Lys787Asn) | |
| 11 | g.22276134T>A | CA379924581 | ANO5 | n.472T>A c.2005T>A (p.Tyr669Asn) c.2413T>A (p.Tyr805Asn) c.2372+1387T>A (n.2372+1387T>A) n.3449T>A c.2410T>A (p.Tyr804Asn) c.2455T>A (p.Tyr819Asn) n.2790T>A c.2452T>A (p.Tyr818Asn) c.2377T>A (p.Tyr793Asn) c.2374T>A (p.Tyr792Asn) c.2362T>A (p.Tyr788Asn) | |
| 11 | g.22276134T>C | CA379924582 | ANO5 | n.472T>C c.2005T>C (p.Tyr669His) c.2413T>C (p.Tyr805His) c.2372+1387T>C (n.2372+1387T>C) n.3449T>C c.2410T>C (p.Tyr804His) c.2455T>C (p.Tyr819His) n.2790T>C c.2452T>C (p.Tyr818His) c.2377T>C (p.Tyr793His) c.2374T>C (p.Tyr792His) c.2362T>C (p.Tyr788His) | ClinVar dbSNP gnomAD v4 |
| 11 | g.22276134T>G | CA379924583 | ANO5 | n.472T>G c.2005T>G (p.Tyr669Asp) c.2413T>G (p.Tyr805Asp) c.2372+1387T>G (n.2372+1387T>G) n.3449T>G c.2410T>G (p.Tyr804Asp) c.2455T>G (p.Tyr819Asp) n.2790T>G c.2452T>G (p.Tyr818Asp) c.2377T>G (p.Tyr793Asp) c.2374T>G (p.Tyr792Asp) c.2362T>G (p.Tyr788Asp) | |
| 11 | g.22276134T= | CA1957408355 | ANO5 | n.472T= c.2005T= (p.Tyr669=) c.2413T= (p.Tyr805=) c.2372+1387T= (n.2372+1387T=) n.3449T= c.2410T= (p.Tyr804=) c.2455T= (p.Tyr819=) n.2790T= c.2452T= (p.Tyr818=) c.2377T= (p.Tyr793=) c.2374T= (p.Tyr792=) c.2362T= (p.Tyr788=) | |
| 11 | g.22276135A= | CA1957408361 | ANO5 | n.473A= c.2006A= (p.Tyr669=) c.2414A= (p.Tyr805=) c.2372+1388A= (n.2372+1388A=) n.3450A= c.2411A= (p.Tyr804=) c.2456A= (p.Tyr819=) n.2791A= c.2453A= (p.Tyr818=) c.2378A= (p.Tyr793=) c.2375A= (p.Tyr792=) c.2363A= (p.Tyr788=) | |
| 11 | g.22276135A>C | CA379924584 | ANO5 | n.473A>C c.2006A>C (p.Tyr669Ser) c.2414A>C (p.Tyr805Ser) c.2372+1388A>C (n.2372+1388A>C) n.3450A>C c.2411A>C (p.Tyr804Ser) c.2456A>C (p.Tyr819Ser) n.2791A>C c.2453A>C (p.Tyr818Ser) c.2378A>C (p.Tyr793Ser) c.2375A>C (p.Tyr792Ser) c.2363A>C (p.Tyr788Ser) | |
| 11 | g.22276135A>G | CA379924585 | ANO5 | n.473A>G c.2006A>G (p.Tyr669Cys) c.2414A>G (p.Tyr805Cys) c.2372+1388A>G (n.2372+1388A>G) n.3450A>G c.2411A>G (p.Tyr804Cys) c.2456A>G (p.Tyr819Cys) n.2791A>G c.2453A>G (p.Tyr818Cys) c.2378A>G (p.Tyr793Cys) c.2375A>G (p.Tyr792Cys) c.2363A>G (p.Tyr788Cys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.22276135A>T | CA379924586 | ANO5 | n.473A>T c.2006A>T (p.Tyr669Phe) c.2414A>T (p.Tyr805Phe) c.2372+1388A>T (n.2372+1388A>T) n.3450A>T c.2411A>T (p.Tyr804Phe) c.2456A>T (p.Tyr819Phe) n.2791A>T c.2453A>T (p.Tyr818Phe) c.2378A>T (p.Tyr793Phe) c.2375A>T (p.Tyr792Phe) c.2363A>T (p.Tyr788Phe) | |
| 11 | g.22276136T>A | CA379924587 | ANO5 | n.474T>A c.2007T>A (p.Tyr669Ter) c.2415T>A (p.Tyr805Ter) c.2372+1389T>A (n.2372+1389T>A) n.3451T>A c.2412T>A (p.Tyr804Ter) c.2457T>A (p.Tyr819Ter) n.2792T>A c.2454T>A (p.Tyr818Ter) c.2379T>A (p.Tyr793Ter) c.2376T>A (p.Tyr792Ter) c.2364T>A (p.Tyr788Ter) | |
| 11 | g.22276136T>C | CA473408949 | ANO5 | n.474T>C c.2007T>C (p.Tyr669=) c.2415T>C (p.Tyr805=) c.2372+1389T>C (n.2372+1389T>C) n.3451T>C c.2412T>C (p.Tyr804=) c.2457T>C (p.Tyr819=) n.2792T>C c.2454T>C (p.Tyr818=) c.2379T>C (p.Tyr793=) c.2376T>C (p.Tyr792=) c.2364T>C (p.Tyr788=) | |
| 11 | g.22276136T>G | CA379924588 | ANO5 | n.474T>G c.2007T>G (p.Tyr669Ter) c.2415T>G (p.Tyr805Ter) c.2372+1389T>G (n.2372+1389T>G) n.3451T>G c.2412T>G (p.Tyr804Ter) c.2457T>G (p.Tyr819Ter) n.2792T>G c.2454T>G (p.Tyr818Ter) c.2379T>G (p.Tyr793Ter) c.2376T>G (p.Tyr792Ter) c.2364T>G (p.Tyr788Ter) | |
| 11 | g.22276139del | CA2574781698 | ANO5 | n.477del c.2010del (p.His671IlefsTer13) c.2418del (p.His807IlefsTer13) c.2372+1392del (n.2372+1392del) n.3454del c.2415del (p.His806IlefsTer13) c.2460del (p.His821IlefsTer13) n.2795del c.2457del (p.His820IlefsTer13) c.2382del (p.His795IlefsTer13) c.2379del (p.His794IlefsTer13) c.2367del (p.His790IlefsTer13) | |
| 11 | g.22276137T>A | CA379924589 | ANO5 | n.475T>A c.2008T>A (p.Phe670Ile) c.2416T>A (p.Phe806Ile) c.2372+1390T>A (n.2372+1390T>A) n.3452T>A c.2413T>A (p.Phe805Ile) c.2458T>A (p.Phe820Ile) n.2793T>A c.2455T>A (p.Phe819Ile) c.2380T>A (p.Phe794Ile) c.2377T>A (p.Phe793Ile) c.2365T>A (p.Phe789Ile) | |
| 11 | g.22276137T>C | CA5923590 | ANO5 | n.475T>C c.2008T>C (p.Phe670Leu) c.2416T>C (p.Phe806Leu) c.2372+1390T>C (n.2372+1390T>C) n.3452T>C c.2413T>C (p.Phe805Leu) c.2458T>C (p.Phe820Leu) n.2793T>C c.2455T>C (p.Phe819Leu) c.2380T>C (p.Phe794Leu) c.2377T>C (p.Phe793Leu) c.2365T>C (p.Phe789Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22276137T>G | CA379924590 | ANO5 | n.475T>G c.2008T>G (p.Phe670Val) c.2416T>G (p.Phe806Val) c.2372+1390T>G (n.2372+1390T>G) n.3452T>G c.2413T>G (p.Phe805Val) c.2458T>G (p.Phe820Val) n.2793T>G c.2455T>G (p.Phe819Val) c.2380T>G (p.Phe794Val) c.2377T>G (p.Phe793Val) c.2365T>G (p.Phe789Val) | |
| 11 | g.22276137T= | CA1957408374 | ANO5 | n.475T= c.2008T= (p.Phe670=) c.2416T= (p.Phe806=) c.2372+1390T= (n.2372+1390T=) n.3452T= c.2413T= (p.Phe805=) c.2458T= (p.Phe820=) n.2793T= c.2455T= (p.Phe819=) c.2380T= (p.Phe794=) c.2377T= (p.Phe793=) c.2365T= (p.Phe789=) | |
| 11 | g.22276138T>A | CA379924593 | ANO5 | n.476T>A c.2009T>A (p.Phe670Tyr) c.2417T>A (p.Phe806Tyr) c.2372+1391T>A (n.2372+1391T>A) n.3453T>A c.2414T>A (p.Phe805Tyr) c.2459T>A (p.Phe820Tyr) n.2794T>A c.2456T>A (p.Phe819Tyr) c.2381T>A (p.Phe794Tyr) c.2378T>A (p.Phe793Tyr) c.2366T>A (p.Phe789Tyr) | |
| 11 | g.22276138T>C | CA379924592 | ANO5 | n.476T>C c.2009T>C (p.Phe670Ser) c.2417T>C (p.Phe806Ser) c.2372+1391T>C (n.2372+1391T>C) n.3453T>C c.2414T>C (p.Phe805Ser) c.2459T>C (p.Phe820Ser) n.2794T>C c.2456T>C (p.Phe819Ser) c.2381T>C (p.Phe794Ser) c.2378T>C (p.Phe793Ser) c.2366T>C (p.Phe789Ser) | |
| 11 | g.22276138T>G | CA379924591 | ANO5 | n.476T>G c.2009T>G (p.Phe670Cys) c.2417T>G (p.Phe806Cys) c.2372+1391T>G (n.2372+1391T>G) n.3453T>G c.2414T>G (p.Phe805Cys) c.2459T>G (p.Phe820Cys) n.2794T>G c.2456T>G (p.Phe819Cys) c.2381T>G (p.Phe794Cys) c.2378T>G (p.Phe793Cys) c.2366T>G (p.Phe789Cys) |