Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.27851389G>ACA488959018OCA2c.2331C>T (p.Cys777=)
c.2259C>T (p.Cys753=)
c.2397C>T (p.Cys799=)
c.2373C>T (p.Cys791=)
c.2355C>T (p.Cys785=)
c.2325C>T (p.Cys775=)
c.2283C>T (p.Cys761=)
c.2190C>T (p.Cys730=)
c.2202C>T (p.Cys734=)
c.2268+19765C>T (n.2268+19765C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.27851389G>CCA391359853OCA2c.2331C>G (p.Cys777Trp)
c.2259C>G (p.Cys753Trp)
c.2397C>G (p.Cys799Trp)
c.2373C>G (p.Cys791Trp)
c.2355C>G (p.Cys785Trp)
c.2325C>G (p.Cys775Trp)
c.2283C>G (p.Cys761Trp)
c.2190C>G (p.Cys730Trp)
c.2202C>G (p.Cys734Trp)
c.2268+19765C>G (n.2268+19765C>G)
15g.27851389G=CA2166351988OCA2c.2331C= (p.Cys777=)
c.2259C= (p.Cys753=)
c.2397C= (p.Cys799=)
c.2373C= (p.Cys791=)
c.2355C= (p.Cys785=)
c.2325C= (p.Cys775=)
c.2283C= (p.Cys761=)
c.2190C= (p.Cys730=)
c.2202C= (p.Cys734=)
c.2268+19765C= (n.2268+19765C=)
15g.27851389G>TCA391359854OCA2c.2331C>A (p.Cys777Ter)
c.2259C>A (p.Cys753Ter)
c.2397C>A (p.Cys799Ter)
c.2373C>A (p.Cys791Ter)
c.2355C>A (p.Cys785Ter)
c.2325C>A (p.Cys775Ter)
c.2283C>A (p.Cys761Ter)
c.2190C>A (p.Cys730Ter)
c.2202C>A (p.Cys734Ter)
c.2268+19765C>A (n.2268+19765C>A)
15g.27851390C>ACA391359857OCA2c.2330G>T (p.Cys777Phe)
c.2258G>T (p.Cys753Phe)
c.2396G>T (p.Cys799Phe)
c.2372G>T (p.Cys791Phe)
c.2354G>T (p.Cys785Phe)
c.2324G>T (p.Cys775Phe)
c.2282G>T (p.Cys761Phe)
c.2189G>T (p.Cys730Phe)
c.2201G>T (p.Cys734Phe)
c.2268+19764G>T (n.2268+19764G>T)
15g.27851390C=CA2166351989OCA2c.2330G= (p.Cys777=)
c.2258G= (p.Cys753=)
c.2396G= (p.Cys799=)
c.2372G= (p.Cys791=)
c.2354G= (p.Cys785=)
c.2324G= (p.Cys775=)
c.2282G= (p.Cys761=)
c.2189G= (p.Cys730=)
c.2201G= (p.Cys734=)
c.2268+19764G= (n.2268+19764G=)
15g.27851390C>GCA391359860OCA2c.2330G>C (p.Cys777Ser)
c.2258G>C (p.Cys753Ser)
c.2396G>C (p.Cys799Ser)
c.2372G>C (p.Cys791Ser)
c.2354G>C (p.Cys785Ser)
c.2324G>C (p.Cys775Ser)
c.2282G>C (p.Cys761Ser)
c.2189G>C (p.Cys730Ser)
c.2201G>C (p.Cys734Ser)
c.2268+19764G>C (n.2268+19764G>C)
15g.27851390C>TCA7438634OCA2c.2330G>A (p.Cys777Tyr)
c.2258G>A (p.Cys753Tyr)
c.2396G>A (p.Cys799Tyr)
c.2372G>A (p.Cys791Tyr)
c.2354G>A (p.Cys785Tyr)
c.2324G>A (p.Cys775Tyr)
c.2282G>A (p.Cys761Tyr)
c.2189G>A (p.Cys730Tyr)
c.2201G>A (p.Cys734Tyr)
c.2268+19764G>A (n.2268+19764G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851391A>CCA391359868OCA2c.2329T>G (p.Cys777Gly)
c.2257T>G (p.Cys753Gly)
c.2395T>G (p.Cys799Gly)
c.2371T>G (p.Cys791Gly)
c.2353T>G (p.Cys785Gly)
c.2323T>G (p.Cys775Gly)
c.2281T>G (p.Cys761Gly)
c.2188T>G (p.Cys730Gly)
c.2200T>G (p.Cys734Gly)
c.2268+19763T>G (n.2268+19763T>G)
15g.27851391A>GCA391359872OCA2c.2329T>C (p.Cys777Arg)
c.2257T>C (p.Cys753Arg)
c.2395T>C (p.Cys799Arg)
c.2371T>C (p.Cys791Arg)
c.2353T>C (p.Cys785Arg)
c.2323T>C (p.Cys775Arg)
c.2281T>C (p.Cys761Arg)
c.2188T>C (p.Cys730Arg)
c.2200T>C (p.Cys734Arg)
c.2268+19763T>C (n.2268+19763T>C)
15g.27851391A>TCA391359876OCA2c.2329T>A (p.Cys777Ser)
c.2257T>A (p.Cys753Ser)
c.2395T>A (p.Cys799Ser)
c.2371T>A (p.Cys791Ser)
c.2353T>A (p.Cys785Ser)
c.2323T>A (p.Cys775Ser)
c.2281T>A (p.Cys761Ser)
c.2188T>A (p.Cys730Ser)
c.2200T>A (p.Cys734Ser)
c.2268+19763T>A (n.2268+19763T>A)
15g.27851392A=CA2166351990OCA2c.2328T= (p.Ala776=)
c.2256T= (p.Ala752=)
c.2394T= (p.Ala798=)
c.2370T= (p.Ala790=)
c.2352T= (p.Ala784=)
c.2322T= (p.Ala774=)
c.2280T= (p.Ala760=)
c.2187T= (p.Ala729=)
c.2199T= (p.Ala733=)
c.2268+19762T= (n.2268+19762T=)
15g.27851392A>CCA488959020OCA2c.2328T>G (p.Ala776=)
c.2256T>G (p.Ala752=)
c.2394T>G (p.Ala798=)
c.2370T>G (p.Ala790=)
c.2352T>G (p.Ala784=)
c.2322T>G (p.Ala774=)
c.2280T>G (p.Ala760=)
c.2187T>G (p.Ala729=)
c.2199T>G (p.Ala733=)
c.2268+19762T>G (n.2268+19762T>G)
dbSNP
15g.27851392A>GCA201867OCA2c.2328T>C (p.Ala776=)
c.2256T>C (p.Ala752=)
c.2394T>C (p.Ala798=)
c.2370T>C (p.Ala790=)
c.2352T>C (p.Ala784=)
c.2322T>C (p.Ala774=)
c.2280T>C (p.Ala760=)
c.2187T>C (p.Ala729=)
c.2199T>C (p.Ala733=)
c.2268+19762T>C (n.2268+19762T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851392A>TCA488959019OCA2c.2328T>A (p.Ala776=)
c.2256T>A (p.Ala752=)
c.2394T>A (p.Ala798=)
c.2370T>A (p.Ala790=)
c.2352T>A (p.Ala784=)
c.2322T>A (p.Ala774=)
c.2280T>A (p.Ala760=)
c.2187T>A (p.Ala729=)
c.2199T>A (p.Ala733=)
c.2268+19762T>A (n.2268+19762T>A)
gnomAD v4
15g.27851393G>ACA7438635OCA2c.2327C>T (p.Ala776Val)
c.2255C>T (p.Ala752Val)
c.2393C>T (p.Ala798Val)
c.2369C>T (p.Ala790Val)
c.2351C>T (p.Ala784Val)
c.2321C>T (p.Ala774Val)
c.2279C>T (p.Ala760Val)
c.2186C>T (p.Ala729Val)
c.2198C>T (p.Ala733Val)
c.2268+19761C>T (n.2268+19761C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851393G>CCA391359896OCA2c.2327C>G (p.Ala776Gly)
c.2255C>G (p.Ala752Gly)
c.2393C>G (p.Ala798Gly)
c.2369C>G (p.Ala790Gly)
c.2351C>G (p.Ala784Gly)
c.2321C>G (p.Ala774Gly)
c.2279C>G (p.Ala760Gly)
c.2186C>G (p.Ala729Gly)
c.2198C>G (p.Ala733Gly)
c.2268+19761C>G (n.2268+19761C>G)
COSMIC
15g.27851393G=CA2166351991OCA2c.2327C= (p.Ala776=)
c.2255C= (p.Ala752=)
c.2393C= (p.Ala798=)
c.2369C= (p.Ala790=)
c.2351C= (p.Ala784=)
c.2321C= (p.Ala774=)
c.2279C= (p.Ala760=)
c.2186C= (p.Ala729=)
c.2198C= (p.Ala733=)
c.2268+19761C= (n.2268+19761C=)
15g.27851393G>TCA391359887OCA2c.2327C>A (p.Ala776Asp)
c.2255C>A (p.Ala752Asp)
c.2393C>A (p.Ala798Asp)
c.2369C>A (p.Ala790Asp)
c.2351C>A (p.Ala784Asp)
c.2321C>A (p.Ala774Asp)
c.2279C>A (p.Ala760Asp)
c.2186C>A (p.Ala729Asp)
c.2198C>A (p.Ala733Asp)
c.2268+19761C>A (n.2268+19761C>A)
ClinVar
15g.27851394C>ACA391359899OCA2c.2326G>T (p.Ala776Ser)
c.2254G>T (p.Ala752Ser)
c.2392G>T (p.Ala798Ser)
c.2368G>T (p.Ala790Ser)
c.2350G>T (p.Ala784Ser)
c.2320G>T (p.Ala774Ser)
c.2278G>T (p.Ala760Ser)
c.2185G>T (p.Ala729Ser)
c.2197G>T (p.Ala733Ser)
c.2268+19760G>T (n.2268+19760G>T)
15g.27851394C>GCA391359900OCA2c.2326G>C (p.Ala776Pro)
c.2254G>C (p.Ala752Pro)
c.2392G>C (p.Ala798Pro)
c.2368G>C (p.Ala790Pro)
c.2350G>C (p.Ala784Pro)
c.2320G>C (p.Ala774Pro)
c.2278G>C (p.Ala760Pro)
c.2185G>C (p.Ala729Pro)
c.2197G>C (p.Ala733Pro)
c.2268+19760G>C (n.2268+19760G>C)
15g.27851394C>TCA391359902OCA2c.2326G>A (p.Ala776Thr)
c.2254G>A (p.Ala752Thr)
c.2392G>A (p.Ala798Thr)
c.2368G>A (p.Ala790Thr)
c.2350G>A (p.Ala784Thr)
c.2320G>A (p.Ala774Thr)
c.2278G>A (p.Ala760Thr)
c.2185G>A (p.Ala729Thr)
c.2197G>A (p.Ala733Thr)
c.2268+19760G>A (n.2268+19760G>A)
15g.27851395A>CCA488959026OCA2c.2325T>G (p.Gly775=)
c.2253T>G (p.Gly751=)
c.2391T>G (p.Gly797=)
c.2367T>G (p.Gly789=)
c.2349T>G (p.Gly783=)
c.2319T>G (p.Gly773=)
c.2277T>G (p.Gly759=)
c.2184T>G (p.Gly728=)
c.2196T>G (p.Gly732=)
c.2268+19759T>G (n.2268+19759T>G)
15g.27851395A>GCA488959024OCA2c.2325T>C (p.Gly775=)
c.2253T>C (p.Gly751=)
c.2391T>C (p.Gly797=)
c.2367T>C (p.Gly789=)
c.2349T>C (p.Gly783=)
c.2319T>C (p.Gly773=)
c.2277T>C (p.Gly759=)
c.2184T>C (p.Gly728=)
c.2196T>C (p.Gly732=)
c.2268+19759T>C (n.2268+19759T>C)
15g.27851395A>TCA488959022OCA2c.2325T>A (p.Gly775=)
c.2253T>A (p.Gly751=)
c.2391T>A (p.Gly797=)
c.2367T>A (p.Gly789=)
c.2349T>A (p.Gly783=)
c.2319T>A (p.Gly773=)
c.2277T>A (p.Gly759=)
c.2184T>A (p.Gly728=)
c.2196T>A (p.Gly732=)
c.2268+19759T>A (n.2268+19759T>A)
15g.27851396C>ACA391359907OCA2c.2324G>T (p.Gly775Val)
c.2252G>T (p.Gly751Val)
c.2390G>T (p.Gly797Val)
c.2366G>T (p.Gly789Val)
c.2348G>T (p.Gly783Val)
c.2318G>T (p.Gly773Val)
c.2276G>T (p.Gly759Val)
c.2183G>T (p.Gly728Val)
c.2195G>T (p.Gly732Val)
c.2268+19758G>T (n.2268+19758G>T)
15g.27851396C=CA2166351992OCA2c.2324G= (p.Gly775=)
c.2252G= (p.Gly751=)
c.2390G= (p.Gly797=)
c.2366G= (p.Gly789=)
c.2348G= (p.Gly783=)
c.2318G= (p.Gly773=)
c.2276G= (p.Gly759=)
c.2183G= (p.Gly728=)
c.2195G= (p.Gly732=)
c.2268+19758G= (n.2268+19758G=)
15g.27851396C>GCA391359910OCA2c.2324G>C (p.Gly775Ala)
c.2252G>C (p.Gly751Ala)
c.2390G>C (p.Gly797Ala)
c.2366G>C (p.Gly789Ala)
c.2348G>C (p.Gly783Ala)
c.2318G>C (p.Gly773Ala)
c.2276G>C (p.Gly759Ala)
c.2183G>C (p.Gly728Ala)
c.2195G>C (p.Gly732Ala)
c.2268+19758G>C (n.2268+19758G>C)
15g.27851396C>TCA267845036OCA2c.2324G>A (p.Gly775Asp)
c.2252G>A (p.Gly751Asp)
c.2390G>A (p.Gly797Asp)
c.2366G>A (p.Gly789Asp)
c.2348G>A (p.Gly783Asp)
c.2318G>A (p.Gly773Asp)
c.2276G>A (p.Gly759Asp)
c.2183G>A (p.Gly728Asp)
c.2195G>A (p.Gly732Asp)
c.2268+19758G>A (n.2268+19758G>A)
ClinVar dbSNP
15g.27851397C>ACA391359920OCA2c.2323G>T (p.Gly775Cys)
c.2251G>T (p.Gly751Cys)
c.2389G>T (p.Gly797Cys)
c.2365G>T (p.Gly789Cys)
c.2347G>T (p.Gly783Cys)
c.2317G>T (p.Gly773Cys)
c.2275G>T (p.Gly759Cys)
c.2182G>T (p.Gly728Cys)
c.2194G>T (p.Gly732Cys)
c.2268+19757G>T (n.2268+19757G>T)
15g.27851397C=CA2166351993OCA2c.2323G= (p.Gly775=)
c.2251G= (p.Gly751=)
c.2389G= (p.Gly797=)
c.2365G= (p.Gly789=)
c.2347G= (p.Gly783=)
c.2317G= (p.Gly773=)
c.2275G= (p.Gly759=)
c.2182G= (p.Gly728=)
c.2194G= (p.Gly732=)
c.2268+19757G= (n.2268+19757G=)
15g.27851397C>GCA391359924OCA2c.2323G>C (p.Gly775Arg)
c.2251G>C (p.Gly751Arg)
c.2389G>C (p.Gly797Arg)
c.2365G>C (p.Gly789Arg)
c.2347G>C (p.Gly783Arg)
c.2317G>C (p.Gly773Arg)
c.2275G>C (p.Gly759Arg)
c.2182G>C (p.Gly728Arg)
c.2194G>C (p.Gly732Arg)
c.2268+19757G>C (n.2268+19757G>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.27851397C>TCA7438636OCA2c.2323G>A (p.Gly775Ser)
c.2251G>A (p.Gly751Ser)
c.2389G>A (p.Gly797Ser)
c.2365G>A (p.Gly789Ser)
c.2347G>A (p.Gly783Ser)
c.2317G>A (p.Gly773Ser)
c.2275G>A (p.Gly759Ser)
c.2182G>A (p.Gly728Ser)
c.2194G>A (p.Gly732Ser)
c.2268+19757G>A (n.2268+19757G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851398G>ACA7438637OCA2c.2322C>T (p.Phe774=)
c.2250C>T (p.Phe750=)
c.2388C>T (p.Phe796=)
c.2364C>T (p.Phe788=)
c.2346C>T (p.Phe782=)
c.2316C>T (p.Phe772=)
c.2274C>T (p.Phe758=)
c.2181C>T (p.Phe727=)
c.2193C>T (p.Phe731=)
c.2268+19756C>T (n.2268+19756C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851398G>CCA391359935OCA2c.2322C>G (p.Phe774Leu)
c.2250C>G (p.Phe750Leu)
c.2388C>G (p.Phe796Leu)
c.2364C>G (p.Phe788Leu)
c.2346C>G (p.Phe782Leu)
c.2316C>G (p.Phe772Leu)
c.2274C>G (p.Phe758Leu)
c.2181C>G (p.Phe727Leu)
c.2193C>G (p.Phe731Leu)
c.2268+19756C>G (n.2268+19756C>G)
15g.27851398G=CA2166351994OCA2c.2322C= (p.Phe774=)
c.2250C= (p.Phe750=)
c.2388C= (p.Phe796=)
c.2364C= (p.Phe788=)
c.2346C= (p.Phe782=)
c.2316C= (p.Phe772=)
c.2274C= (p.Phe758=)
c.2181C= (p.Phe727=)
c.2193C= (p.Phe731=)
c.2268+19756C= (n.2268+19756C=)
15g.27851398G>TCA7438638OCA2c.2322C>A (p.Phe774Leu)
c.2250C>A (p.Phe750Leu)
c.2388C>A (p.Phe796Leu)
c.2364C>A (p.Phe788Leu)
c.2346C>A (p.Phe782Leu)
c.2316C>A (p.Phe772Leu)
c.2274C>A (p.Phe758Leu)
c.2181C>A (p.Phe727Leu)
c.2193C>A (p.Phe731Leu)
c.2268+19756C>A (n.2268+19756C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851399A>CCA391359953OCA2c.2321T>G (p.Phe774Cys)
c.2249T>G (p.Phe750Cys)
c.2387T>G (p.Phe796Cys)
c.2363T>G (p.Phe788Cys)
c.2345T>G (p.Phe782Cys)
c.2315T>G (p.Phe772Cys)
c.2273T>G (p.Phe758Cys)
c.2180T>G (p.Phe727Cys)
c.2192T>G (p.Phe731Cys)
c.2268+19755T>G (n.2268+19755T>G)
15g.27851399A>GCA391359948OCA2c.2321T>C (p.Phe774Ser)
c.2249T>C (p.Phe750Ser)
c.2387T>C (p.Phe796Ser)
c.2363T>C (p.Phe788Ser)
c.2345T>C (p.Phe782Ser)
c.2315T>C (p.Phe772Ser)
c.2273T>C (p.Phe758Ser)
c.2180T>C (p.Phe727Ser)
c.2192T>C (p.Phe731Ser)
c.2268+19755T>C (n.2268+19755T>C)
15g.27851399A>TCA391359944OCA2c.2321T>A (p.Phe774Tyr)
c.2249T>A (p.Phe750Tyr)
c.2387T>A (p.Phe796Tyr)
c.2363T>A (p.Phe788Tyr)
c.2345T>A (p.Phe782Tyr)
c.2315T>A (p.Phe772Tyr)
c.2273T>A (p.Phe758Tyr)
c.2180T>A (p.Phe727Tyr)
c.2192T>A (p.Phe731Tyr)
c.2268+19755T>A (n.2268+19755T>A)
15g.27851400A>CCA391359957OCA2c.2320T>G (p.Phe774Val)
c.2248T>G (p.Phe750Val)
c.2386T>G (p.Phe796Val)
c.2362T>G (p.Phe788Val)
c.2344T>G (p.Phe782Val)
c.2314T>G (p.Phe772Val)
c.2272T>G (p.Phe758Val)
c.2179T>G (p.Phe727Val)
c.2191T>G (p.Phe731Val)
c.2268+19754T>G (n.2268+19754T>G)
15g.27851400A>GCA391359961OCA2c.2320T>C (p.Phe774Leu)
c.2248T>C (p.Phe750Leu)
c.2386T>C (p.Phe796Leu)
c.2362T>C (p.Phe788Leu)
c.2344T>C (p.Phe782Leu)
c.2314T>C (p.Phe772Leu)
c.2272T>C (p.Phe758Leu)
c.2179T>C (p.Phe727Leu)
c.2191T>C (p.Phe731Leu)
c.2268+19754T>C (n.2268+19754T>C)
15g.27851400A>TCA391359962OCA2c.2320T>A (p.Phe774Ile)
c.2248T>A (p.Phe750Ile)
c.2386T>A (p.Phe796Ile)
c.2362T>A (p.Phe788Ile)
c.2344T>A (p.Phe782Ile)
c.2314T>A (p.Phe772Ile)
c.2272T>A (p.Phe758Ile)
c.2179T>A (p.Phe727Ile)
c.2191T>A (p.Phe731Ile)
c.2268+19754T>A (n.2268+19754T>A)
15g.27851401G>ACA488959030OCA2c.2319C>T (p.Ala773=)
c.2247C>T (p.Ala749=)
c.2385C>T (p.Ala795=)
c.2361C>T (p.Ala787=)
c.2343C>T (p.Ala781=)
c.2313C>T (p.Ala771=)
c.2271C>T (p.Ala757=)
c.2178C>T (p.Ala726=)
c.2190C>T (p.Ala730=)
c.2268+19753C>T (n.2268+19753C>T)
15g.27851401G>CCA488959031OCA2c.2319C>G (p.Ala773=)
c.2247C>G (p.Ala749=)
c.2385C>G (p.Ala795=)
c.2361C>G (p.Ala787=)
c.2343C>G (p.Ala781=)
c.2313C>G (p.Ala771=)
c.2271C>G (p.Ala757=)
c.2178C>G (p.Ala726=)
c.2190C>G (p.Ala730=)
c.2268+19753C>G (n.2268+19753C>G)
gnomAD v4
15g.27851401G>TCA488959033OCA2c.2319C>A (p.Ala773=)
c.2247C>A (p.Ala749=)
c.2385C>A (p.Ala795=)
c.2361C>A (p.Ala787=)
c.2343C>A (p.Ala781=)
c.2313C>A (p.Ala771=)
c.2271C>A (p.Ala757=)
c.2178C>A (p.Ala726=)
c.2190C>A (p.Ala730=)
c.2268+19753C>A (n.2268+19753C>A)
15g.27851402G>ACA391359963OCA2c.2318C>T (p.Ala773Val)
c.2246C>T (p.Ala749Val)
c.2384C>T (p.Ala795Val)
c.2360C>T (p.Ala787Val)
c.2342C>T (p.Ala781Val)
c.2312C>T (p.Ala771Val)
c.2270C>T (p.Ala757Val)
c.2177C>T (p.Ala726Val)
c.2189C>T (p.Ala730Val)
c.2268+19752C>T (n.2268+19752C>T)
15g.27851402G>CCA391359965OCA2c.2318C>G (p.Ala773Gly)
c.2246C>G (p.Ala749Gly)
c.2384C>G (p.Ala795Gly)
c.2360C>G (p.Ala787Gly)
c.2342C>G (p.Ala781Gly)
c.2312C>G (p.Ala771Gly)
c.2270C>G (p.Ala757Gly)
c.2177C>G (p.Ala726Gly)
c.2189C>G (p.Ala730Gly)
c.2268+19752C>G (n.2268+19752C>G)
dbSNP gnomAD v2 gnomAD v4
15g.27851402G=CA2166351995OCA2c.2318C= (p.Ala773=)
c.2246C= (p.Ala749=)
c.2384C= (p.Ala795=)
c.2360C= (p.Ala787=)
c.2342C= (p.Ala781=)
c.2312C= (p.Ala771=)
c.2270C= (p.Ala757=)
c.2177C= (p.Ala726=)
c.2189C= (p.Ala730=)
c.2268+19752C= (n.2268+19752C=)
15g.27851402G>TCA391359968OCA2c.2318C>A (p.Ala773Asp)
c.2246C>A (p.Ala749Asp)
c.2384C>A (p.Ala795Asp)
c.2360C>A (p.Ala787Asp)
c.2342C>A (p.Ala781Asp)
c.2312C>A (p.Ala771Asp)
c.2270C>A (p.Ala757Asp)
c.2177C>A (p.Ala726Asp)
c.2189C>A (p.Ala730Asp)
c.2268+19752C>A (n.2268+19752C>A)
15g.27851403C>ACA391359973OCA2c.2317G>T (p.Ala773Ser)
c.2245G>T (p.Ala749Ser)
c.2383G>T (p.Ala795Ser)
c.2359G>T (p.Ala787Ser)
c.2341G>T (p.Ala781Ser)
c.2311G>T (p.Ala771Ser)
c.2269G>T (p.Ala757Ser)
c.2176G>T (p.Ala726Ser)
c.2188G>T (p.Ala730Ser)
c.2268+19751G>T (n.2268+19751G>T)
COSMIC
15g.27851403C=CA2166351996OCA2c.2317G= (p.Ala773=)
c.2245G= (p.Ala749=)
c.2383G= (p.Ala795=)
c.2359G= (p.Ala787=)
c.2341G= (p.Ala781=)
c.2311G= (p.Ala771=)
c.2269G= (p.Ala757=)
c.2176G= (p.Ala726=)
c.2188G= (p.Ala730=)
c.2268+19751G= (n.2268+19751G=)
15g.27851403C>GCA391359976OCA2c.2317G>C (p.Ala773Pro)
c.2245G>C (p.Ala749Pro)
c.2383G>C (p.Ala795Pro)
c.2359G>C (p.Ala787Pro)
c.2341G>C (p.Ala781Pro)
c.2311G>C (p.Ala771Pro)
c.2269G>C (p.Ala757Pro)
c.2176G>C (p.Ala726Pro)
c.2188G>C (p.Ala730Pro)
c.2268+19751G>C (n.2268+19751G>C)
15g.27851403C>TCA391359980OCA2c.2317G>A (p.Ala773Thr)
c.2245G>A (p.Ala749Thr)
c.2383G>A (p.Ala795Thr)
c.2359G>A (p.Ala787Thr)
c.2341G>A (p.Ala781Thr)
c.2311G>A (p.Ala771Thr)
c.2269G>A (p.Ala757Thr)
c.2176G>A (p.Ala726Thr)
c.2188G>A (p.Ala730Thr)
c.2268+19751G>A (n.2268+19751G>A)
dbSNP gnomAD v2 gnomAD v4 COSMIC
15g.27851404delCA2697554281OCA2c.2317del (p.Ala773ProfsTer12)
c.2245del (p.Ala749ProfsTer12)
c.2383del (p.Ala795ProfsTer12)
c.2359del (p.Ala787ProfsTer12)
c.2341del (p.Ala781ProfsTer12)
c.2311del (p.Ala771ProfsTer12)
c.2269del (p.Ala757ProfsTer12)
c.2176del (p.Ala726ProfsTer12)
c.2188del (p.Ala730ProfsTer12)
c.2268+19751del (n.2268+19751del)
ClinVar
15g.27851404C>ACA488959036OCA2c.2316G>T (p.Leu772=)
c.2244G>T (p.Leu748=)
c.2382G>T (p.Leu794=)
c.2358G>T (p.Leu786=)
c.2340G>T (p.Leu780=)
c.2310G>T (p.Leu770=)
c.2268G>T (p.Leu756=)
c.2175G>T (p.Leu725=)
c.2187G>T (p.Leu729=)
c.2268+19750G>T (n.2268+19750G>T)
15g.27851404C>GCA488959037OCA2c.2316G>C (p.Leu772=)
c.2244G>C (p.Leu748=)
c.2382G>C (p.Leu794=)
c.2358G>C (p.Leu786=)
c.2340G>C (p.Leu780=)
c.2310G>C (p.Leu770=)
c.2268G>C (p.Leu756=)
c.2175G>C (p.Leu725=)
c.2187G>C (p.Leu729=)
c.2268+19750G>C (n.2268+19750G>C)
gnomAD v4
15g.27851404C>TCA488959039OCA2c.2316G>A (p.Leu772=)
c.2244G>A (p.Leu748=)
c.2382G>A (p.Leu794=)
c.2358G>A (p.Leu786=)
c.2340G>A (p.Leu780=)
c.2310G>A (p.Leu770=)
c.2268G>A (p.Leu756=)
c.2175G>A (p.Leu725=)
c.2187G>A (p.Leu729=)
c.2268+19750G>A (n.2268+19750G>A)
15g.27851405A>CCA391359985OCA2c.2315T>G (p.Leu772Arg)
c.2243T>G (p.Leu748Arg)
c.2381T>G (p.Leu794Arg)
c.2357T>G (p.Leu786Arg)
c.2339T>G (p.Leu780Arg)
c.2309T>G (p.Leu770Arg)
c.2267T>G (p.Leu756Arg)
c.2174T>G (p.Leu725Arg)
c.2186T>G (p.Leu729Arg)
c.2268+19749T>G (n.2268+19749T>G)
15g.27851405A>GCA391359988OCA2c.2315T>C (p.Leu772Pro)
c.2243T>C (p.Leu748Pro)
c.2381T>C (p.Leu794Pro)
c.2357T>C (p.Leu786Pro)
c.2339T>C (p.Leu780Pro)
c.2309T>C (p.Leu770Pro)
c.2267T>C (p.Leu756Pro)
c.2174T>C (p.Leu725Pro)
c.2186T>C (p.Leu729Pro)
c.2268+19749T>C (n.2268+19749T>C)
15g.27851405A>TCA391359991OCA2c.2315T>A (p.Leu772Gln)
c.2243T>A (p.Leu748Gln)
c.2381T>A (p.Leu794Gln)
c.2357T>A (p.Leu786Gln)
c.2339T>A (p.Leu780Gln)
c.2309T>A (p.Leu770Gln)
c.2267T>A (p.Leu756Gln)
c.2174T>A (p.Leu725Gln)
c.2186T>A (p.Leu729Gln)
c.2268+19749T>A (n.2268+19749T>A)
15g.27851406G>ACA7438639OCA2c.2314C>T (p.Leu772=)
c.2242C>T (p.Leu748=)
c.2380C>T (p.Leu794=)
c.2356C>T (p.Leu786=)
c.2338C>T (p.Leu780=)
c.2308C>T (p.Leu770=)
c.2266C>T (p.Leu756=)
c.2173C>T (p.Leu725=)
c.2185C>T (p.Leu729=)
c.2268+19748C>T (n.2268+19748C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851406G>CCA7438640OCA2c.2314C>G (p.Leu772Val)
c.2242C>G (p.Leu748Val)
c.2380C>G (p.Leu794Val)
c.2356C>G (p.Leu786Val)
c.2338C>G (p.Leu780Val)
c.2308C>G (p.Leu770Val)
c.2266C>G (p.Leu756Val)
c.2173C>G (p.Leu725Val)
c.2185C>G (p.Leu729Val)
c.2268+19748C>G (n.2268+19748C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851406G=CA2166351997OCA2c.2314C= (p.Leu772=)
c.2242C= (p.Leu748=)
c.2380C= (p.Leu794=)
c.2356C= (p.Leu786=)
c.2338C= (p.Leu780=)
c.2308C= (p.Leu770=)
c.2266C= (p.Leu756=)
c.2173C= (p.Leu725=)
c.2185C= (p.Leu729=)
c.2268+19748C= (n.2268+19748C=)
15g.27851406G>TCA391359996OCA2c.2314C>A (p.Leu772Met)
c.2242C>A (p.Leu748Met)
c.2380C>A (p.Leu794Met)
c.2356C>A (p.Leu786Met)
c.2338C>A (p.Leu780Met)
c.2308C>A (p.Leu770Met)
c.2266C>A (p.Leu756Met)
c.2173C>A (p.Leu725Met)
c.2185C>A (p.Leu729Met)
c.2268+19748C>A (n.2268+19748C>A)
15g.27851407G>ACA7438641OCA2c.2313C>T (p.Ala771=)
c.2241C>T (p.Ala747=)
c.2379C>T (p.Ala793=)
c.2355C>T (p.Ala785=)
c.2337C>T (p.Ala779=)
c.2307C>T (p.Ala769=)
c.2265C>T (p.Ala755=)
c.2172C>T (p.Ala724=)
c.2184C>T (p.Ala728=)
c.2268+19747C>T (n.2268+19747C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851407G>CCA488959041OCA2c.2313C>G (p.Ala771=)
c.2241C>G (p.Ala747=)
c.2379C>G (p.Ala793=)
c.2355C>G (p.Ala785=)
c.2337C>G (p.Ala779=)
c.2307C>G (p.Ala769=)
c.2265C>G (p.Ala755=)
c.2172C>G (p.Ala724=)
c.2184C>G (p.Ala728=)
c.2268+19747C>G (n.2268+19747C>G)
ClinVar gnomAD v4
15g.27851407G=CA2166351998OCA2c.2313C= (p.Ala771=)
c.2241C= (p.Ala747=)
c.2379C= (p.Ala793=)
c.2355C= (p.Ala785=)
c.2337C= (p.Ala779=)
c.2307C= (p.Ala769=)
c.2265C= (p.Ala755=)
c.2172C= (p.Ala724=)
c.2184C= (p.Ala728=)
c.2268+19747C= (n.2268+19747C=)
15g.27851407G>TCA488959042OCA2c.2313C>A (p.Ala771=)
c.2241C>A (p.Ala747=)
c.2379C>A (p.Ala793=)
c.2355C>A (p.Ala785=)
c.2337C>A (p.Ala779=)
c.2307C>A (p.Ala769=)
c.2265C>A (p.Ala755=)
c.2172C>A (p.Ala724=)
c.2184C>A (p.Ala728=)
c.2268+19747C>A (n.2268+19747C>A)
15g.27851408G>ACA391360012OCA2c.2312C>T (p.Ala771Val)
c.2240C>T (p.Ala747Val)
c.2378C>T (p.Ala793Val)
c.2354C>T (p.Ala785Val)
c.2336C>T (p.Ala779Val)
c.2306C>T (p.Ala769Val)
c.2264C>T (p.Ala755Val)
c.2171C>T (p.Ala724Val)
c.2183C>T (p.Ala728Val)
c.2268+19746C>T (n.2268+19746C>T)
gnomAD v4 COSMIC
15g.27851408G>CCA391360005OCA2c.2312C>G (p.Ala771Gly)
c.2240C>G (p.Ala747Gly)
c.2378C>G (p.Ala793Gly)
c.2354C>G (p.Ala785Gly)
c.2336C>G (p.Ala779Gly)
c.2306C>G (p.Ala769Gly)
c.2264C>G (p.Ala755Gly)
c.2171C>G (p.Ala724Gly)
c.2183C>G (p.Ala728Gly)
c.2268+19746C>G (n.2268+19746C>G)
15g.27851408G>TCA391360009OCA2c.2312C>A (p.Ala771Asp)
c.2240C>A (p.Ala747Asp)
c.2378C>A (p.Ala793Asp)
c.2354C>A (p.Ala785Asp)
c.2336C>A (p.Ala779Asp)
c.2306C>A (p.Ala769Asp)
c.2264C>A (p.Ala755Asp)
c.2171C>A (p.Ala724Asp)
c.2183C>A (p.Ala728Asp)
c.2268+19746C>A (n.2268+19746C>A)
15g.27851409C>ACA7438642OCA2c.2311G>T (p.Ala771Ser)
c.2239G>T (p.Ala747Ser)
c.2377G>T (p.Ala793Ser)
c.2353G>T (p.Ala785Ser)
c.2335G>T (p.Ala779Ser)
c.2305G>T (p.Ala769Ser)
c.2263G>T (p.Ala755Ser)
c.2170G>T (p.Ala724Ser)
c.2182G>T (p.Ala728Ser)
c.2268+19745G>T (n.2268+19745G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851409C=CA2166351999OCA2c.2311G= (p.Ala771=)
c.2239G= (p.Ala747=)
c.2377G= (p.Ala793=)
c.2353G= (p.Ala785=)
c.2335G= (p.Ala779=)
c.2305G= (p.Ala769=)
c.2263G= (p.Ala755=)
c.2170G= (p.Ala724=)
c.2182G= (p.Ala728=)
c.2268+19745G= (n.2268+19745G=)
15g.27851409C>GCA391360015OCA2c.2311G>C (p.Ala771Pro)
c.2239G>C (p.Ala747Pro)
c.2377G>C (p.Ala793Pro)
c.2353G>C (p.Ala785Pro)
c.2335G>C (p.Ala779Pro)
c.2305G>C (p.Ala769Pro)
c.2263G>C (p.Ala755Pro)
c.2170G>C (p.Ala724Pro)
c.2182G>C (p.Ala728Pro)
c.2268+19745G>C (n.2268+19745G>C)
15g.27851409C>TCA391360017OCA2c.2311G>A (p.Ala771Thr)
c.2239G>A (p.Ala747Thr)
c.2377G>A (p.Ala793Thr)
c.2353G>A (p.Ala785Thr)
c.2335G>A (p.Ala779Thr)
c.2305G>A (p.Ala769Thr)
c.2263G>A (p.Ala755Thr)
c.2170G>A (p.Ala724Thr)
c.2182G>A (p.Ala728Thr)
c.2268+19745G>A (n.2268+19745G>A)
dbSNP gnomAD v2 gnomAD v4
15g.27851410A=CA2166352000OCA2c.2310T= (p.Tyr770=)
c.2238T= (p.Tyr746=)
c.2376T= (p.Tyr792=)
c.2352T= (p.Tyr784=)
c.2334T= (p.Tyr778=)
c.2304T= (p.Tyr768=)
c.2262T= (p.Tyr754=)
c.2169T= (p.Tyr723=)
c.2181T= (p.Tyr727=)
c.2268+19744T= (n.2268+19744T=)
15g.27851410A>CCA267845081OCA2c.2310T>G (p.Tyr770Ter)
c.2238T>G (p.Tyr746Ter)
c.2376T>G (p.Tyr792Ter)
c.2352T>G (p.Tyr784Ter)
c.2334T>G (p.Tyr778Ter)
c.2304T>G (p.Tyr768Ter)
c.2262T>G (p.Tyr754Ter)
c.2169T>G (p.Tyr723Ter)
c.2181T>G (p.Tyr727Ter)
c.2268+19744T>G (n.2268+19744T>G)
dbSNP gnomAD v2 gnomAD v4
15g.27851410A>GCA7438643OCA2c.2310T>C (p.Tyr770=)
c.2238T>C (p.Tyr746=)
c.2376T>C (p.Tyr792=)
c.2352T>C (p.Tyr784=)
c.2334T>C (p.Tyr778=)
c.2304T>C (p.Tyr768=)
c.2262T>C (p.Tyr754=)
c.2169T>C (p.Tyr723=)
c.2181T>C (p.Tyr727=)
c.2268+19744T>C (n.2268+19744T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851410A>TCA391360019OCA2c.2310T>A (p.Tyr770Ter)
c.2238T>A (p.Tyr746Ter)
c.2376T>A (p.Tyr792Ter)
c.2352T>A (p.Tyr784Ter)
c.2334T>A (p.Tyr778Ter)
c.2304T>A (p.Tyr768Ter)
c.2262T>A (p.Tyr754Ter)
c.2169T>A (p.Tyr723Ter)
c.2181T>A (p.Tyr727Ter)
c.2268+19744T>A (n.2268+19744T>A)
dbSNP
15g.27851411T>ACA391360023OCA2c.2309A>T (p.Tyr770Phe)
c.2237A>T (p.Tyr746Phe)
c.2375A>T (p.Tyr792Phe)
c.2351A>T (p.Tyr784Phe)
c.2333A>T (p.Tyr778Phe)
c.2303A>T (p.Tyr768Phe)
c.2261A>T (p.Tyr754Phe)
c.2168A>T (p.Tyr723Phe)
c.2180A>T (p.Tyr727Phe)
c.2268+19743A>T (n.2268+19743A>T)
15g.27851411T>CCA391360024OCA2c.2309A>G (p.Tyr770Cys)
c.2237A>G (p.Tyr746Cys)
c.2375A>G (p.Tyr792Cys)
c.2351A>G (p.Tyr784Cys)
c.2333A>G (p.Tyr778Cys)
c.2303A>G (p.Tyr768Cys)
c.2261A>G (p.Tyr754Cys)
c.2168A>G (p.Tyr723Cys)
c.2180A>G (p.Tyr727Cys)
c.2268+19743A>G (n.2268+19743A>G)
ClinVar
15g.27851411T>GCA391360026OCA2c.2309A>C (p.Tyr770Ser)
c.2237A>C (p.Tyr746Ser)
c.2375A>C (p.Tyr792Ser)
c.2351A>C (p.Tyr784Ser)
c.2333A>C (p.Tyr778Ser)
c.2303A>C (p.Tyr768Ser)
c.2261A>C (p.Tyr754Ser)
c.2168A>C (p.Tyr723Ser)
c.2180A>C (p.Tyr727Ser)
c.2268+19743A>C (n.2268+19743A>C)
15g.27851412A>CCA391360027OCA2c.2308T>G (p.Tyr770Asp)
c.2236T>G (p.Tyr746Asp)
c.2374T>G (p.Tyr792Asp)
c.2350T>G (p.Tyr784Asp)
c.2332T>G (p.Tyr778Asp)
c.2302T>G (p.Tyr768Asp)
c.2260T>G (p.Tyr754Asp)
c.2167T>G (p.Tyr723Asp)
c.2179T>G (p.Tyr727Asp)
c.2268+19742T>G (n.2268+19742T>G)
15g.27851412A>GCA391360029OCA2c.2308T>C (p.Tyr770His)
c.2236T>C (p.Tyr746His)
c.2374T>C (p.Tyr792His)
c.2350T>C (p.Tyr784His)
c.2332T>C (p.Tyr778His)
c.2302T>C (p.Tyr768His)
c.2260T>C (p.Tyr754His)
c.2167T>C (p.Tyr723His)
c.2179T>C (p.Tyr727His)
c.2268+19742T>C (n.2268+19742T>C)
15g.27851412A>TCA391360030OCA2c.2308T>A (p.Tyr770Asn)
c.2236T>A (p.Tyr746Asn)
c.2374T>A (p.Tyr792Asn)
c.2350T>A (p.Tyr784Asn)
c.2332T>A (p.Tyr778Asn)
c.2302T>A (p.Tyr768Asn)
c.2260T>A (p.Tyr754Asn)
c.2167T>A (p.Tyr723Asn)
c.2179T>A (p.Tyr727Asn)
c.2268+19742T>A (n.2268+19742T>A)
15g.27851413C>ACA391360031OCA2c.2307G>T (p.Met769Ile)
c.2235G>T (p.Met745Ile)
c.2373G>T (p.Met791Ile)
c.2349G>T (p.Met783Ile)
c.2331G>T (p.Met777Ile)
c.2301G>T (p.Met767Ile)
c.2259G>T (p.Met753Ile)
c.2166G>T (p.Met722Ile)
c.2178G>T (p.Met726Ile)
c.2268+19741G>T (n.2268+19741G>T)
15g.27851413C>GCA391360033OCA2c.2307G>C (p.Met769Ile)
c.2235G>C (p.Met745Ile)
c.2373G>C (p.Met791Ile)
c.2349G>C (p.Met783Ile)
c.2331G>C (p.Met777Ile)
c.2301G>C (p.Met767Ile)
c.2259G>C (p.Met753Ile)
c.2166G>C (p.Met722Ile)
c.2178G>C (p.Met726Ile)
c.2268+19741G>C (n.2268+19741G>C)
15g.27851413C>TCA391360032OCA2c.2307G>A (p.Met769Ile)
c.2235G>A (p.Met745Ile)
c.2373G>A (p.Met791Ile)
c.2349G>A (p.Met783Ile)
c.2331G>A (p.Met777Ile)
c.2301G>A (p.Met767Ile)
c.2259G>A (p.Met753Ile)
c.2166G>A (p.Met722Ile)
c.2178G>A (p.Met726Ile)
c.2268+19741G>A (n.2268+19741G>A)
15g.27851414A=CA2166352001OCA2c.2306T= (p.Met769=)
c.2234T= (p.Met745=)
c.2372T= (p.Met791=)
c.2348T= (p.Met783=)
c.2330T= (p.Met777=)
c.2300T= (p.Met767=)
c.2258T= (p.Met753=)
c.2165T= (p.Met722=)
c.2177T= (p.Met726=)
c.2268+19740T= (n.2268+19740T=)
15g.27851414A>CCA391360034OCA2c.2306T>G (p.Met769Arg)
c.2234T>G (p.Met745Arg)
c.2372T>G (p.Met791Arg)
c.2348T>G (p.Met783Arg)
c.2330T>G (p.Met777Arg)
c.2300T>G (p.Met767Arg)
c.2258T>G (p.Met753Arg)
c.2165T>G (p.Met722Arg)
c.2177T>G (p.Met726Arg)
c.2268+19740T>G (n.2268+19740T>G)
gnomAD v4
15g.27851414A>GCA7438644OCA2c.2306T>C (p.Met769Thr)
c.2234T>C (p.Met745Thr)
c.2372T>C (p.Met791Thr)
c.2348T>C (p.Met783Thr)
c.2330T>C (p.Met777Thr)
c.2300T>C (p.Met767Thr)
c.2258T>C (p.Met753Thr)
c.2165T>C (p.Met722Thr)
c.2177T>C (p.Met726Thr)
c.2268+19740T>C (n.2268+19740T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851414A>TCA391360037OCA2c.2306T>A (p.Met769Lys)
c.2234T>A (p.Met745Lys)
c.2372T>A (p.Met791Lys)
c.2348T>A (p.Met783Lys)
c.2330T>A (p.Met777Lys)
c.2300T>A (p.Met767Lys)
c.2258T>A (p.Met753Lys)
c.2165T>A (p.Met722Lys)
c.2177T>A (p.Met726Lys)
c.2268+19740T>A (n.2268+19740T>A)
15g.27851415T>ACA391360042OCA2c.2305A>T (p.Met769Leu)
c.2233A>T (p.Met745Leu)
c.2371A>T (p.Met791Leu)
c.2347A>T (p.Met783Leu)
c.2329A>T (p.Met777Leu)
c.2299A>T (p.Met767Leu)
c.2257A>T (p.Met753Leu)
c.2164A>T (p.Met722Leu)
c.2176A>T (p.Met726Leu)
c.2268+19739A>T (n.2268+19739A>T)
dbSNP gnomAD v4
15g.27851415T>CCA7438645OCA2c.2305A>G (p.Met769Val)
c.2233A>G (p.Met745Val)
c.2371A>G (p.Met791Val)
c.2347A>G (p.Met783Val)
c.2329A>G (p.Met777Val)
c.2299A>G (p.Met767Val)
c.2257A>G (p.Met753Val)
c.2164A>G (p.Met722Val)
c.2176A>G (p.Met726Val)
c.2268+19739A>G (n.2268+19739A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851415T>GCA391360044OCA2c.2305A>C (p.Met769Leu)
c.2233A>C (p.Met745Leu)
c.2371A>C (p.Met791Leu)
c.2347A>C (p.Met783Leu)
c.2329A>C (p.Met777Leu)
c.2299A>C (p.Met767Leu)
c.2257A>C (p.Met753Leu)
c.2164A>C (p.Met722Leu)
c.2176A>C (p.Met726Leu)
c.2268+19739A>C (n.2268+19739A>C)
15g.27851415T=CA2166352002OCA2c.2305A= (p.Met769=)
c.2233A= (p.Met745=)
c.2371A= (p.Met791=)
c.2347A= (p.Met783=)
c.2329A= (p.Met777=)
c.2299A= (p.Met767=)
c.2257A= (p.Met753=)
c.2164A= (p.Met722=)
c.2176A= (p.Met726=)
c.2268+19739A= (n.2268+19739A=)
15g.27851416G>ACA488959054OCA2c.2304C>T (p.Leu768=)
c.2232C>T (p.Leu744=)
c.2370C>T (p.Leu790=)
c.2346C>T (p.Leu782=)
c.2328C>T (p.Leu776=)
c.2298C>T (p.Leu766=)
c.2256C>T (p.Leu752=)
c.2163C>T (p.Leu721=)
c.2175C>T (p.Leu725=)
c.2268+19738C>T (n.2268+19738C>T)
ClinVar dbSNP gnomAD v4
15g.27851416G>CCA488959053OCA2c.2304C>G (p.Leu768=)
c.2232C>G (p.Leu744=)
c.2370C>G (p.Leu790=)
c.2346C>G (p.Leu782=)
c.2328C>G (p.Leu776=)
c.2298C>G (p.Leu766=)
c.2256C>G (p.Leu752=)
c.2163C>G (p.Leu721=)
c.2175C>G (p.Leu725=)
c.2268+19738C>G (n.2268+19738C>G)
15g.27851416G=CA2166352003OCA2c.2304C= (p.Leu768=)
c.2232C= (p.Leu744=)
c.2370C= (p.Leu790=)
c.2346C= (p.Leu782=)
c.2328C= (p.Leu776=)
c.2298C= (p.Leu766=)
c.2256C= (p.Leu752=)
c.2163C= (p.Leu721=)
c.2175C= (p.Leu725=)
c.2268+19738C= (n.2268+19738C=)
15g.27851416G>TCA488959052OCA2c.2304C>A (p.Leu768=)
c.2232C>A (p.Leu744=)
c.2370C>A (p.Leu790=)
c.2346C>A (p.Leu782=)
c.2328C>A (p.Leu776=)
c.2298C>A (p.Leu766=)
c.2256C>A (p.Leu752=)
c.2163C>A (p.Leu721=)
c.2175C>A (p.Leu725=)
c.2268+19738C>A (n.2268+19738C>A)
ClinVar dbSNP
15g.27851417A>CCA391360046OCA2c.2303T>G (p.Leu768Arg)
c.2231T>G (p.Leu744Arg)
c.2369T>G (p.Leu790Arg)
c.2345T>G (p.Leu782Arg)
c.2327T>G (p.Leu776Arg)
c.2297T>G (p.Leu766Arg)
c.2255T>G (p.Leu752Arg)
c.2162T>G (p.Leu721Arg)
c.2174T>G (p.Leu725Arg)
c.2268+19737T>G (n.2268+19737T>G)
15g.27851417A>GCA391360047OCA2c.2303T>C (p.Leu768Pro)
c.2231T>C (p.Leu744Pro)
c.2369T>C (p.Leu790Pro)
c.2345T>C (p.Leu782Pro)
c.2327T>C (p.Leu776Pro)
c.2297T>C (p.Leu766Pro)
c.2255T>C (p.Leu752Pro)
c.2162T>C (p.Leu721Pro)
c.2174T>C (p.Leu725Pro)
c.2268+19737T>C (n.2268+19737T>C)
15g.27851417A>TCA391360049OCA2c.2303T>A (p.Leu768His)
c.2231T>A (p.Leu744His)
c.2369T>A (p.Leu790His)
c.2345T>A (p.Leu782His)
c.2327T>A (p.Leu776His)
c.2297T>A (p.Leu766His)
c.2255T>A (p.Leu752His)
c.2162T>A (p.Leu721His)
c.2174T>A (p.Leu725His)
c.2268+19737T>A (n.2268+19737T>A)
15g.27851418G>ACA391360051OCA2c.2302C>T (p.Leu768Phe)
c.2230C>T (p.Leu744Phe)
c.2368C>T (p.Leu790Phe)
c.2344C>T (p.Leu782Phe)
c.2326C>T (p.Leu776Phe)
c.2296C>T (p.Leu766Phe)
c.2254C>T (p.Leu752Phe)
c.2161C>T (p.Leu721Phe)
c.2173C>T (p.Leu725Phe)
c.2268+19736C>T (n.2268+19736C>T)
15g.27851418G>CCA391360053OCA2c.2302C>G (p.Leu768Val)
c.2230C>G (p.Leu744Val)
c.2368C>G (p.Leu790Val)
c.2344C>G (p.Leu782Val)
c.2326C>G (p.Leu776Val)
c.2296C>G (p.Leu766Val)
c.2254C>G (p.Leu752Val)
c.2161C>G (p.Leu721Val)
c.2173C>G (p.Leu725Val)
c.2268+19736C>G (n.2268+19736C>G)
15g.27851418G>TCA391360054OCA2c.2302C>A (p.Leu768Ile)
c.2230C>A (p.Leu744Ile)
c.2368C>A (p.Leu790Ile)
c.2344C>A (p.Leu782Ile)
c.2326C>A (p.Leu776Ile)
c.2296C>A (p.Leu766Ile)
c.2254C>A (p.Leu752Ile)
c.2161C>A (p.Leu721Ile)
c.2173C>A (p.Leu725Ile)
c.2268+19736C>A (n.2268+19736C>A)
15g.27851419C>ACA7438647OCA2c.2301G>T (p.Pro767=)
c.2229G>T (p.Pro743=)
c.2367G>T (p.Pro789=)
c.2343G>T (p.Pro781=)
c.2325G>T (p.Pro775=)
c.2295G>T (p.Pro765=)
c.2253G>T (p.Pro751=)
c.2160G>T (p.Pro720=)
c.2172G>T (p.Pro724=)
c.2268+19735G>T (n.2268+19735G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851419C=CA2166352004OCA2c.2301G= (p.Pro767=)
c.2229G= (p.Pro743=)
c.2367G= (p.Pro789=)
c.2343G= (p.Pro781=)
c.2325G= (p.Pro775=)
c.2295G= (p.Pro765=)
c.2253G= (p.Pro751=)
c.2160G= (p.Pro720=)
c.2172G= (p.Pro724=)
c.2268+19735G= (n.2268+19735G=)
15g.27851419C>GCA488959057OCA2c.2301G>C (p.Pro767=)
c.2229G>C (p.Pro743=)
c.2367G>C (p.Pro789=)
c.2343G>C (p.Pro781=)
c.2325G>C (p.Pro775=)
c.2295G>C (p.Pro765=)
c.2253G>C (p.Pro751=)
c.2160G>C (p.Pro720=)
c.2172G>C (p.Pro724=)
c.2268+19735G>C (n.2268+19735G>C)
gnomAD v4
15g.27851419C>TCA7438646OCA2c.2301G>A (p.Pro767=)
c.2229G>A (p.Pro743=)
c.2367G>A (p.Pro789=)
c.2343G>A (p.Pro781=)
c.2325G>A (p.Pro775=)
c.2295G>A (p.Pro765=)
c.2253G>A (p.Pro751=)
c.2160G>A (p.Pro720=)
c.2172G>A (p.Pro724=)
c.2268+19735G>A (n.2268+19735G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.27851420G>ACA7438648OCA2c.2300C>T (p.Pro767Leu)
c.2228C>T (p.Pro743Leu)
c.2366C>T (p.Pro789Leu)
c.2342C>T (p.Pro781Leu)
c.2324C>T (p.Pro775Leu)
c.2294C>T (p.Pro765Leu)
c.2252C>T (p.Pro751Leu)
c.2159C>T (p.Pro720Leu)
c.2171C>T (p.Pro724Leu)
c.2268+19734C>T (n.2268+19734C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851420G>CCA391360058OCA2c.2300C>G (p.Pro767Arg)
c.2228C>G (p.Pro743Arg)
c.2366C>G (p.Pro789Arg)
c.2342C>G (p.Pro781Arg)
c.2324C>G (p.Pro775Arg)
c.2294C>G (p.Pro765Arg)
c.2252C>G (p.Pro751Arg)
c.2159C>G (p.Pro720Arg)
c.2171C>G (p.Pro724Arg)
c.2268+19734C>G (n.2268+19734C>G)
15g.27851420G=CA2166352005OCA2c.2300C= (p.Pro767=)
c.2228C= (p.Pro743=)
c.2366C= (p.Pro789=)
c.2342C= (p.Pro781=)
c.2324C= (p.Pro775=)
c.2294C= (p.Pro765=)
c.2252C= (p.Pro751=)
c.2159C= (p.Pro720=)
c.2171C= (p.Pro724=)
c.2268+19734C= (n.2268+19734C=)
15g.27851420G>TCA391360059OCA2c.2300C>A (p.Pro767Gln)
c.2228C>A (p.Pro743Gln)
c.2366C>A (p.Pro789Gln)
c.2342C>A (p.Pro781Gln)
c.2324C>A (p.Pro775Gln)
c.2294C>A (p.Pro765Gln)
c.2252C>A (p.Pro751Gln)
c.2159C>A (p.Pro720Gln)
c.2171C>A (p.Pro724Gln)
c.2268+19734C>A (n.2268+19734C>A)
15g.27851421G>ACA391360062OCA2c.2299C>T (p.Pro767Ser)
c.2227C>T (p.Pro743Ser)
c.2365C>T (p.Pro789Ser)
c.2341C>T (p.Pro781Ser)
c.2323C>T (p.Pro775Ser)
c.2293C>T (p.Pro765Ser)
c.2251C>T (p.Pro751Ser)
c.2158C>T (p.Pro720Ser)
c.2170C>T (p.Pro724Ser)
c.2268+19733C>T (n.2268+19733C>T)
gnomAD v4
15g.27851421G>CCA391360064OCA2c.2299C>G (p.Pro767Ala)
c.2227C>G (p.Pro743Ala)
c.2365C>G (p.Pro789Ala)
c.2341C>G (p.Pro781Ala)
c.2323C>G (p.Pro775Ala)
c.2293C>G (p.Pro765Ala)
c.2251C>G (p.Pro751Ala)
c.2158C>G (p.Pro720Ala)
c.2170C>G (p.Pro724Ala)
c.2268+19733C>G (n.2268+19733C>G)
15g.27851421G=CA2166352006OCA2c.2299C= (p.Pro767=)
c.2227C= (p.Pro743=)
c.2365C= (p.Pro789=)
c.2341C= (p.Pro781=)
c.2323C= (p.Pro775=)
c.2293C= (p.Pro765=)
c.2251C= (p.Pro751=)
c.2158C= (p.Pro720=)
c.2170C= (p.Pro724=)
c.2268+19733C= (n.2268+19733C=)
15g.27851421G>TCA391360066OCA2c.2299C>A (p.Pro767Thr)
c.2227C>A (p.Pro743Thr)
c.2365C>A (p.Pro789Thr)
c.2341C>A (p.Pro781Thr)
c.2323C>A (p.Pro775Thr)
c.2293C>A (p.Pro765Thr)
c.2251C>A (p.Pro751Thr)
c.2158C>A (p.Pro720Thr)
c.2170C>A (p.Pro724Thr)
c.2268+19733C>A (n.2268+19733C>A)
dbSNP
15g.27851422C>ACA488959059OCA2c.2298G>T (p.Pro766=)
c.2226G>T (p.Pro742=)
c.2364G>T (p.Pro788=)
c.2340G>T (p.Pro780=)
c.2322G>T (p.Pro774=)
c.2292G>T (p.Pro764=)
c.2250G>T (p.Pro750=)
c.2157G>T (p.Pro719=)
c.2169G>T (p.Pro723=)
c.2268+19732G>T (n.2268+19732G>T)
ClinVar
15g.27851422C=CA2166352007OCA2c.2298G= (p.Pro766=)
c.2226G= (p.Pro742=)
c.2364G= (p.Pro788=)
c.2340G= (p.Pro780=)
c.2322G= (p.Pro774=)
c.2292G= (p.Pro764=)
c.2250G= (p.Pro750=)
c.2157G= (p.Pro719=)
c.2169G= (p.Pro723=)
c.2268+19732G= (n.2268+19732G=)
15g.27851422C>GCA488959060OCA2c.2298G>C (p.Pro766=)
c.2226G>C (p.Pro742=)
c.2364G>C (p.Pro788=)
c.2340G>C (p.Pro780=)
c.2322G>C (p.Pro774=)
c.2292G>C (p.Pro764=)
c.2250G>C (p.Pro750=)
c.2157G>C (p.Pro719=)
c.2169G>C (p.Pro723=)
c.2268+19732G>C (n.2268+19732G>C)
15g.27851422C>TCA267845152OCA2c.2298G>A (p.Pro766=)
c.2226G>A (p.Pro742=)
c.2364G>A (p.Pro788=)
c.2340G>A (p.Pro780=)
c.2322G>A (p.Pro774=)
c.2292G>A (p.Pro764=)
c.2250G>A (p.Pro750=)
c.2157G>A (p.Pro719=)
c.2169G>A (p.Pro723=)
c.2268+19732G>A (n.2268+19732G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.27851423G>ACA7438649OCA2c.2297C>T (p.Pro766Leu)
c.2225C>T (p.Pro742Leu)
c.2363C>T (p.Pro788Leu)
c.2339C>T (p.Pro780Leu)
c.2321C>T (p.Pro774Leu)
c.2291C>T (p.Pro764Leu)
c.2249C>T (p.Pro750Leu)
c.2156C>T (p.Pro719Leu)
c.2168C>T (p.Pro723Leu)
c.2268+19731C>T (n.2268+19731C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851423G>CCA391360068OCA2c.2297C>G (p.Pro766Arg)
c.2225C>G (p.Pro742Arg)
c.2363C>G (p.Pro788Arg)
c.2339C>G (p.Pro780Arg)
c.2321C>G (p.Pro774Arg)
c.2291C>G (p.Pro764Arg)
c.2249C>G (p.Pro750Arg)
c.2156C>G (p.Pro719Arg)
c.2168C>G (p.Pro723Arg)
c.2268+19731C>G (n.2268+19731C>G)
15g.27851423G=CA2166352008OCA2c.2297C= (p.Pro766=)
c.2225C= (p.Pro742=)
c.2363C= (p.Pro788=)
c.2339C= (p.Pro780=)
c.2321C= (p.Pro774=)
c.2291C= (p.Pro764=)
c.2249C= (p.Pro750=)
c.2156C= (p.Pro719=)
c.2168C= (p.Pro723=)
c.2268+19731C= (n.2268+19731C=)
15g.27851423G>TCA391360070OCA2c.2297C>A (p.Pro766Gln)
c.2225C>A (p.Pro742Gln)
c.2363C>A (p.Pro788Gln)
c.2339C>A (p.Pro780Gln)
c.2321C>A (p.Pro774Gln)
c.2291C>A (p.Pro764Gln)
c.2249C>A (p.Pro750Gln)
c.2156C>A (p.Pro719Gln)
c.2168C>A (p.Pro723Gln)
c.2268+19731C>A (n.2268+19731C>A)
gnomAD v4
15g.27851424G>ACA391360072OCA2c.2296C>T (p.Pro766Ser)
c.2224C>T (p.Pro742Ser)
c.2362C>T (p.Pro788Ser)
c.2338C>T (p.Pro780Ser)
c.2320C>T (p.Pro774Ser)
c.2290C>T (p.Pro764Ser)
c.2248C>T (p.Pro750Ser)
c.2155C>T (p.Pro719Ser)
c.2167C>T (p.Pro723Ser)
c.2268+19730C>T (n.2268+19730C>T)
dbSNP gnomAD v4
15g.27851424G>CCA7438651OCA2c.2296C>G (p.Pro766Ala)
c.2224C>G (p.Pro742Ala)
c.2362C>G (p.Pro788Ala)
c.2338C>G (p.Pro780Ala)
c.2320C>G (p.Pro774Ala)
c.2290C>G (p.Pro764Ala)
c.2248C>G (p.Pro750Ala)
c.2155C>G (p.Pro719Ala)
c.2167C>G (p.Pro723Ala)
c.2268+19730C>G (n.2268+19730C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851424G=CA2166352009OCA2c.2296C= (p.Pro766=)
c.2224C= (p.Pro742=)
c.2362C= (p.Pro788=)
c.2338C= (p.Pro780=)
c.2320C= (p.Pro774=)
c.2290C= (p.Pro764=)
c.2248C= (p.Pro750=)
c.2155C= (p.Pro719=)
c.2167C= (p.Pro723=)
c.2268+19730C= (n.2268+19730C=)
15g.27851424G>TCA7438650OCA2c.2296C>A (p.Pro766Thr)
c.2224C>A (p.Pro742Thr)
c.2362C>A (p.Pro788Thr)
c.2338C>A (p.Pro780Thr)
c.2320C>A (p.Pro774Thr)
c.2290C>A (p.Pro764Thr)
c.2248C>A (p.Pro750Thr)
c.2155C>A (p.Pro719Thr)
c.2167C>A (p.Pro723Thr)
c.2268+19730C>A (n.2268+19730C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851425T>ACA488959065OCA2c.2295A>T (p.Ala765=)
c.2223A>T (p.Ala741=)
c.2361A>T (p.Ala787=)
c.2337A>T (p.Ala779=)
c.2319A>T (p.Ala773=)
c.2289A>T (p.Ala763=)
c.2247A>T (p.Ala749=)
c.2154A>T (p.Ala718=)
c.2166A>T (p.Ala722=)
c.2268+19729A>T (n.2268+19729A>T)
15g.27851425T>CCA7438652OCA2c.2295A>G (p.Ala765=)
c.2223A>G (p.Ala741=)
c.2361A>G (p.Ala787=)
c.2337A>G (p.Ala779=)
c.2319A>G (p.Ala773=)
c.2289A>G (p.Ala763=)
c.2247A>G (p.Ala749=)
c.2154A>G (p.Ala718=)
c.2166A>G (p.Ala722=)
c.2268+19729A>G (n.2268+19729A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851425T>GCA267845163OCA2c.2295A>C (p.Ala765=)
c.2223A>C (p.Ala741=)
c.2361A>C (p.Ala787=)
c.2337A>C (p.Ala779=)
c.2319A>C (p.Ala773=)
c.2289A>C (p.Ala763=)
c.2247A>C (p.Ala749=)
c.2154A>C (p.Ala718=)
c.2166A>C (p.Ala722=)
c.2268+19729A>C (n.2268+19729A>C)
dbSNP
15g.27851425T=CA2166352010OCA2c.2295A= (p.Ala765=)
c.2223A= (p.Ala741=)
c.2361A= (p.Ala787=)
c.2337A= (p.Ala779=)
c.2319A= (p.Ala773=)
c.2289A= (p.Ala763=)
c.2247A= (p.Ala749=)
c.2154A= (p.Ala718=)
c.2166A= (p.Ala722=)
c.2268+19729A= (n.2268+19729A=)
15g.27851426G>ACA391360075OCA2c.2294C>T (p.Ala765Val)
c.2222C>T (p.Ala741Val)
c.2360C>T (p.Ala787Val)
c.2336C>T (p.Ala779Val)
c.2318C>T (p.Ala773Val)
c.2288C>T (p.Ala763Val)
c.2246C>T (p.Ala749Val)
c.2153C>T (p.Ala718Val)
c.2165C>T (p.Ala722Val)
c.2268+19728C>T (n.2268+19728C>T)
dbSNP
15g.27851426G>CCA391360078OCA2c.2294C>G (p.Ala765Gly)
c.2222C>G (p.Ala741Gly)
c.2360C>G (p.Ala787Gly)
c.2336C>G (p.Ala779Gly)
c.2318C>G (p.Ala773Gly)
c.2288C>G (p.Ala763Gly)
c.2246C>G (p.Ala749Gly)
c.2153C>G (p.Ala718Gly)
c.2165C>G (p.Ala722Gly)
c.2268+19728C>G (n.2268+19728C>G)
15g.27851426G=CA2166352011OCA2c.2294C= (p.Ala765=)
c.2222C= (p.Ala741=)
c.2360C= (p.Ala787=)
c.2336C= (p.Ala779=)
c.2318C= (p.Ala773=)
c.2288C= (p.Ala763=)
c.2246C= (p.Ala749=)
c.2153C= (p.Ala718=)
c.2165C= (p.Ala722=)
c.2268+19728C= (n.2268+19728C=)
15g.27851426G>TCA391360077OCA2c.2294C>A (p.Ala765Glu)
c.2222C>A (p.Ala741Glu)
c.2360C>A (p.Ala787Glu)
c.2336C>A (p.Ala779Glu)
c.2318C>A (p.Ala773Glu)
c.2288C>A (p.Ala763Glu)
c.2246C>A (p.Ala749Glu)
c.2153C>A (p.Ala718Glu)
c.2165C>A (p.Ala722Glu)
c.2268+19728C>A (n.2268+19728C>A)
15g.27851427C>ACA391360079OCA2c.2293G>T (p.Ala765Ser)
c.2221G>T (p.Ala741Ser)
c.2359G>T (p.Ala787Ser)
c.2335G>T (p.Ala779Ser)
c.2317G>T (p.Ala773Ser)
c.2287G>T (p.Ala763Ser)
c.2245G>T (p.Ala749Ser)
c.2152G>T (p.Ala718Ser)
c.2164G>T (p.Ala722Ser)
c.2268+19727G>T (n.2268+19727G>T)
gnomAD v4
15g.27851427C=CA2166352012OCA2c.2293G= (p.Ala765=)
c.2221G= (p.Ala741=)
c.2359G= (p.Ala787=)
c.2335G= (p.Ala779=)
c.2317G= (p.Ala773=)
c.2287G= (p.Ala763=)
c.2245G= (p.Ala749=)
c.2152G= (p.Ala718=)
c.2164G= (p.Ala722=)
c.2268+19727G= (n.2268+19727G=)
15g.27851427C>GCA391360080OCA2c.2293G>C (p.Ala765Pro)
c.2221G>C (p.Ala741Pro)
c.2359G>C (p.Ala787Pro)
c.2335G>C (p.Ala779Pro)
c.2317G>C (p.Ala773Pro)
c.2287G>C (p.Ala763Pro)
c.2245G>C (p.Ala749Pro)
c.2152G>C (p.Ala718Pro)
c.2164G>C (p.Ala722Pro)
c.2268+19727G>C (n.2268+19727G>C)
15g.27851427C>TCA242139OCA2c.2293G>A (p.Ala765Thr)
c.2221G>A (p.Ala741Thr)
c.2359G>A (p.Ala787Thr)
c.2335G>A (p.Ala779Thr)
c.2317G>A (p.Ala773Thr)
c.2287G>A (p.Ala763Thr)
c.2245G>A (p.Ala749Thr)
c.2152G>A (p.Ala718Thr)
c.2164G>A (p.Ala722Thr)
c.2268+19727G>A (n.2268+19727G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851428G>ACA7438653OCA2c.2292C>T (p.Pro764=)
c.2220C>T (p.Pro740=)
c.2358C>T (p.Pro786=)
c.2334C>T (p.Pro778=)
c.2316C>T (p.Pro772=)
c.2286C>T (p.Pro762=)
c.2244C>T (p.Pro748=)
c.2151C>T (p.Pro717=)
c.2163C>T (p.Pro721=)
c.2268+19726C>T (n.2268+19726C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851428G>CCA488959070OCA2c.2292C>G (p.Pro764=)
c.2220C>G (p.Pro740=)
c.2358C>G (p.Pro786=)
c.2334C>G (p.Pro778=)
c.2316C>G (p.Pro772=)
c.2286C>G (p.Pro762=)
c.2244C>G (p.Pro748=)
c.2151C>G (p.Pro717=)
c.2163C>G (p.Pro721=)
c.2268+19726C>G (n.2268+19726C>G)
ClinVar gnomAD v4
15g.27851428G=CA2166352013OCA2c.2292C= (p.Pro764=)
c.2220C= (p.Pro740=)
c.2358C= (p.Pro786=)
c.2334C= (p.Pro778=)
c.2316C= (p.Pro772=)
c.2286C= (p.Pro762=)
c.2244C= (p.Pro748=)
c.2151C= (p.Pro717=)
c.2163C= (p.Pro721=)
c.2268+19726C= (n.2268+19726C=)
15g.27851428G>TCA488959071OCA2c.2292C>A (p.Pro764=)
c.2220C>A (p.Pro740=)
c.2358C>A (p.Pro786=)
c.2334C>A (p.Pro778=)
c.2316C>A (p.Pro772=)
c.2286C>A (p.Pro762=)
c.2244C>A (p.Pro748=)
c.2151C>A (p.Pro717=)
c.2163C>A (p.Pro721=)
c.2268+19726C>A (n.2268+19726C>A)
15g.27851429G>ACA267845178OCA2c.2291C>T (p.Pro764Leu)
c.2219C>T (p.Pro740Leu)
c.2357C>T (p.Pro786Leu)
c.2333C>T (p.Pro778Leu)
c.2315C>T (p.Pro772Leu)
c.2285C>T (p.Pro762Leu)
c.2243C>T (p.Pro748Leu)
c.2150C>T (p.Pro717Leu)
c.2162C>T (p.Pro721Leu)
c.2268+19725C>T (n.2268+19725C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.27851429G>CCA391360086OCA2c.2291C>G (p.Pro764Arg)
c.2219C>G (p.Pro740Arg)
c.2357C>G (p.Pro786Arg)
c.2333C>G (p.Pro778Arg)
c.2315C>G (p.Pro772Arg)
c.2285C>G (p.Pro762Arg)
c.2243C>G (p.Pro748Arg)
c.2150C>G (p.Pro717Arg)
c.2162C>G (p.Pro721Arg)
c.2268+19725C>G (n.2268+19725C>G)
15g.27851429G=CA2166352014OCA2c.2291C= (p.Pro764=)
c.2219C= (p.Pro740=)
c.2357C= (p.Pro786=)
c.2333C= (p.Pro778=)
c.2315C= (p.Pro772=)
c.2285C= (p.Pro762=)
c.2243C= (p.Pro748=)
c.2150C= (p.Pro717=)
c.2162C= (p.Pro721=)
c.2268+19725C= (n.2268+19725C=)
15g.27851429G>TCA391360089OCA2c.2291C>A (p.Pro764His)
c.2219C>A (p.Pro740His)
c.2357C>A (p.Pro786His)
c.2333C>A (p.Pro778His)
c.2315C>A (p.Pro772His)
c.2285C>A (p.Pro762His)
c.2243C>A (p.Pro748His)
c.2150C>A (p.Pro717His)
c.2162C>A (p.Pro721His)
c.2268+19725C>A (n.2268+19725C>A)
15g.27851430G>ACA391360092OCA2c.2290C>T (p.Pro764Ser)
c.2218C>T (p.Pro740Ser)
c.2356C>T (p.Pro786Ser)
c.2332C>T (p.Pro778Ser)
c.2314C>T (p.Pro772Ser)
c.2284C>T (p.Pro762Ser)
c.2242C>T (p.Pro748Ser)
c.2149C>T (p.Pro717Ser)
c.2161C>T (p.Pro721Ser)
c.2268+19724C>T (n.2268+19724C>T)
dbSNP gnomAD v2 gnomAD v4
15g.27851430G>CCA7438654OCA2c.2290C>G (p.Pro764Ala)
c.2218C>G (p.Pro740Ala)
c.2356C>G (p.Pro786Ala)
c.2332C>G (p.Pro778Ala)
c.2314C>G (p.Pro772Ala)
c.2284C>G (p.Pro762Ala)
c.2242C>G (p.Pro748Ala)
c.2149C>G (p.Pro717Ala)
c.2161C>G (p.Pro721Ala)
c.2268+19724C>G (n.2268+19724C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851430G=CA2166352015OCA2c.2290C= (p.Pro764=)
c.2218C= (p.Pro740=)
c.2356C= (p.Pro786=)
c.2332C= (p.Pro778=)
c.2314C= (p.Pro772=)
c.2284C= (p.Pro762=)
c.2242C= (p.Pro748=)
c.2149C= (p.Pro717=)
c.2161C= (p.Pro721=)
c.2268+19724C= (n.2268+19724C=)
15g.27851430G>TCA391360094OCA2c.2290C>A (p.Pro764Thr)
c.2218C>A (p.Pro740Thr)
c.2356C>A (p.Pro786Thr)
c.2332C>A (p.Pro778Thr)
c.2314C>A (p.Pro772Thr)
c.2284C>A (p.Pro762Thr)
c.2242C>A (p.Pro748Thr)
c.2149C>A (p.Pro717Thr)
c.2161C>A (p.Pro721Thr)
c.2268+19724C>A (n.2268+19724C>A)
15g.27851431C>ACA7438655OCA2c.2289G>T (p.Leu763=)
c.2217G>T (p.Leu739=)
c.2355G>T (p.Leu785=)
c.2331G>T (p.Leu777=)
c.2313G>T (p.Leu771=)
c.2283G>T (p.Leu761=)
c.2241G>T (p.Leu747=)
c.2148G>T (p.Leu716=)
c.2160G>T (p.Leu720=)
c.2268+19723G>T (n.2268+19723G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851431C=CA2166352016OCA2c.2289G= (p.Leu763=)
c.2217G= (p.Leu739=)
c.2355G= (p.Leu785=)
c.2331G= (p.Leu777=)
c.2313G= (p.Leu771=)
c.2283G= (p.Leu761=)
c.2241G= (p.Leu747=)
c.2148G= (p.Leu716=)
c.2160G= (p.Leu720=)
c.2268+19723G= (n.2268+19723G=)
15g.27851431C>GCA488959076OCA2c.2289G>C (p.Leu763=)
c.2217G>C (p.Leu739=)
c.2355G>C (p.Leu785=)
c.2331G>C (p.Leu777=)
c.2313G>C (p.Leu771=)
c.2283G>C (p.Leu761=)
c.2241G>C (p.Leu747=)
c.2148G>C (p.Leu716=)
c.2160G>C (p.Leu720=)
c.2268+19723G>C (n.2268+19723G>C)
15g.27851431C>TCA488959077OCA2c.2289G>A (p.Leu763=)
c.2217G>A (p.Leu739=)
c.2355G>A (p.Leu785=)
c.2331G>A (p.Leu777=)
c.2313G>A (p.Leu771=)
c.2283G>A (p.Leu761=)
c.2241G>A (p.Leu747=)
c.2148G>A (p.Leu716=)
c.2160G>A (p.Leu720=)
c.2268+19723G>A (n.2268+19723G>A)
gnomAD v4
15g.27851432A>CCA391360096OCA2c.2288T>G (p.Leu763Arg)
c.2216T>G (p.Leu739Arg)
c.2354T>G (p.Leu785Arg)
c.2330T>G (p.Leu777Arg)
c.2312T>G (p.Leu771Arg)
c.2282T>G (p.Leu761Arg)
c.2240T>G (p.Leu747Arg)
c.2147T>G (p.Leu716Arg)
c.2159T>G (p.Leu720Arg)
c.2268+19722T>G (n.2268+19722T>G)
15g.27851432A>GCA391360105OCA2c.2288T>C (p.Leu763Pro)
c.2216T>C (p.Leu739Pro)
c.2354T>C (p.Leu785Pro)
c.2330T>C (p.Leu777Pro)
c.2312T>C (p.Leu771Pro)
c.2282T>C (p.Leu761Pro)
c.2240T>C (p.Leu747Pro)
c.2147T>C (p.Leu716Pro)
c.2159T>C (p.Leu720Pro)
c.2268+19722T>C (n.2268+19722T>C)
15g.27851432A>TCA391360098OCA2c.2288T>A (p.Leu763Gln)
c.2216T>A (p.Leu739Gln)
c.2354T>A (p.Leu785Gln)
c.2330T>A (p.Leu777Gln)
c.2312T>A (p.Leu771Gln)
c.2282T>A (p.Leu761Gln)
c.2240T>A (p.Leu747Gln)
c.2147T>A (p.Leu716Gln)
c.2159T>A (p.Leu720Gln)
c.2268+19722T>A (n.2268+19722T>A)
15g.27851433G>ACA7438657OCA2c.2287C>T (p.Leu763=)
c.2215C>T (p.Leu739=)
c.2353C>T (p.Leu785=)
c.2329C>T (p.Leu777=)
c.2311C>T (p.Leu771=)
c.2281C>T (p.Leu761=)
c.2239C>T (p.Leu747=)
c.2146C>T (p.Leu716=)
c.2158C>T (p.Leu720=)
c.2268+19721C>T (n.2268+19721C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851433G>CCA391360110OCA2c.2287C>G (p.Leu763Val)
c.2215C>G (p.Leu739Val)
c.2353C>G (p.Leu785Val)
c.2329C>G (p.Leu777Val)
c.2311C>G (p.Leu771Val)
c.2281C>G (p.Leu761Val)
c.2239C>G (p.Leu747Val)
c.2146C>G (p.Leu716Val)
c.2158C>G (p.Leu720Val)
c.2268+19721C>G (n.2268+19721C>G)
dbSNP gnomAD v4
15g.27851433G=CA2166352017OCA2c.2287C= (p.Leu763=)
c.2215C= (p.Leu739=)
c.2353C= (p.Leu785=)
c.2329C= (p.Leu777=)
c.2311C= (p.Leu771=)
c.2281C= (p.Leu761=)
c.2239C= (p.Leu747=)
c.2146C= (p.Leu716=)
c.2158C= (p.Leu720=)
c.2268+19721C= (n.2268+19721C=)
15g.27851433G>TCA7438656OCA2c.2287C>A (p.Leu763Met)
c.2215C>A (p.Leu739Met)
c.2353C>A (p.Leu785Met)
c.2329C>A (p.Leu777Met)
c.2311C>A (p.Leu771Met)
c.2281C>A (p.Leu761Met)
c.2239C>A (p.Leu747Met)
c.2146C>A (p.Leu716Met)
c.2158C>A (p.Leu720Met)
c.2268+19721C>A (n.2268+19721C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851434G>ACA488959081OCA2c.2286C>T (p.Gly762=)
c.2214C>T (p.Gly738=)
c.2352C>T (p.Gly784=)
c.2328C>T (p.Gly776=)
c.2310C>T (p.Gly770=)
c.2280C>T (p.Gly760=)
c.2238C>T (p.Gly746=)
c.2145C>T (p.Gly715=)
c.2157C>T (p.Gly719=)
c.2268+19720C>T (n.2268+19720C>T)
gnomAD v4
15g.27851434G>CCA488959084OCA2c.2286C>G (p.Gly762=)
c.2214C>G (p.Gly738=)
c.2352C>G (p.Gly784=)
c.2328C>G (p.Gly776=)
c.2310C>G (p.Gly770=)
c.2280C>G (p.Gly760=)
c.2238C>G (p.Gly746=)
c.2145C>G (p.Gly715=)
c.2157C>G (p.Gly719=)
c.2268+19720C>G (n.2268+19720C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.27851434G=CA2166352018OCA2c.2286C= (p.Gly762=)
c.2214C= (p.Gly738=)
c.2352C= (p.Gly784=)
c.2328C= (p.Gly776=)
c.2310C= (p.Gly770=)
c.2280C= (p.Gly760=)
c.2238C= (p.Gly746=)
c.2145C= (p.Gly715=)
c.2157C= (p.Gly719=)
c.2268+19720C= (n.2268+19720C=)
15g.27851434G>TCA488959082OCA2c.2286C>A (p.Gly762=)
c.2214C>A (p.Gly738=)
c.2352C>A (p.Gly784=)
c.2328C>A (p.Gly776=)
c.2310C>A (p.Gly770=)
c.2280C>A (p.Gly760=)
c.2238C>A (p.Gly746=)
c.2145C>A (p.Gly715=)
c.2157C>A (p.Gly719=)
c.2268+19720C>A (n.2268+19720C>A)
15g.27851435C>ACA391360112OCA2c.2285G>T (p.Gly762Val)
c.2213G>T (p.Gly738Val)
c.2351G>T (p.Gly784Val)
c.2327G>T (p.Gly776Val)
c.2309G>T (p.Gly770Val)
c.2279G>T (p.Gly760Val)
c.2237G>T (p.Gly746Val)
c.2144G>T (p.Gly715Val)
c.2156G>T (p.Gly719Val)
c.2268+19719G>T (n.2268+19719G>T)
15g.27851435C=CA2166352019OCA2c.2285G= (p.Gly762=)
c.2213G= (p.Gly738=)
c.2351G= (p.Gly784=)
c.2327G= (p.Gly776=)
c.2309G= (p.Gly770=)
c.2279G= (p.Gly760=)
c.2237G= (p.Gly746=)
c.2144G= (p.Gly715=)
c.2156G= (p.Gly719=)
c.2268+19719G= (n.2268+19719G=)
15g.27851435C>GCA391360114OCA2c.2285G>C (p.Gly762Ala)
c.2213G>C (p.Gly738Ala)
c.2351G>C (p.Gly784Ala)
c.2327G>C (p.Gly776Ala)
c.2309G>C (p.Gly770Ala)
c.2279G>C (p.Gly760Ala)
c.2237G>C (p.Gly746Ala)
c.2144G>C (p.Gly715Ala)
c.2156G>C (p.Gly719Ala)
c.2268+19719G>C (n.2268+19719G>C)
15g.27851435C>TCA391360115OCA2c.2285G>A (p.Gly762Asp)
c.2213G>A (p.Gly738Asp)
c.2351G>A (p.Gly784Asp)
c.2327G>A (p.Gly776Asp)
c.2309G>A (p.Gly770Asp)
c.2279G>A (p.Gly760Asp)
c.2237G>A (p.Gly746Asp)
c.2144G>A (p.Gly715Asp)
c.2156G>A (p.Gly719Asp)
c.2268+19719G>A (n.2268+19719G>A)
dbSNP gnomAD v4
15g.27851436C>ACA391360117OCA2c.2284G>T (p.Gly762Cys)
c.2212G>T (p.Gly738Cys)
c.2350G>T (p.Gly784Cys)
c.2326G>T (p.Gly776Cys)
c.2308G>T (p.Gly770Cys)
c.2278G>T (p.Gly760Cys)
c.2236G>T (p.Gly746Cys)
c.2143G>T (p.Gly715Cys)
c.2155G>T (p.Gly719Cys)
c.2268+19718G>T (n.2268+19718G>T)
15g.27851436C=CA2166352020OCA2c.2284G= (p.Gly762=)
c.2212G= (p.Gly738=)
c.2350G= (p.Gly784=)
c.2326G= (p.Gly776=)
c.2308G= (p.Gly770=)
c.2278G= (p.Gly760=)
c.2236G= (p.Gly746=)
c.2143G= (p.Gly715=)
c.2155G= (p.Gly719=)
c.2268+19718G= (n.2268+19718G=)
15g.27851436C>GCA391360119OCA2c.2284G>C (p.Gly762Arg)
c.2212G>C (p.Gly738Arg)
c.2350G>C (p.Gly784Arg)
c.2326G>C (p.Gly776Arg)
c.2308G>C (p.Gly770Arg)
c.2278G>C (p.Gly760Arg)
c.2236G>C (p.Gly746Arg)
c.2143G>C (p.Gly715Arg)
c.2155G>C (p.Gly719Arg)
c.2268+19718G>C (n.2268+19718G>C)
15g.27851436C>TCA391360120OCA2c.2284G>A (p.Gly762Ser)
c.2212G>A (p.Gly738Ser)
c.2350G>A (p.Gly784Ser)
c.2326G>A (p.Gly776Ser)
c.2308G>A (p.Gly770Ser)
c.2278G>A (p.Gly760Ser)
c.2236G>A (p.Gly746Ser)
c.2143G>A (p.Gly715Ser)
c.2155G>A (p.Gly719Ser)
c.2268+19718G>A (n.2268+19718G>A)
dbSNP
15g.27851437A>CCA488959085OCA2c.2283T>G (p.Val761=)
c.2211T>G (p.Val737=)
c.2349T>G (p.Val783=)
c.2325T>G (p.Val775=)
c.2307T>G (p.Val769=)
c.2277T>G (p.Val759=)
c.2235T>G (p.Val745=)
c.2142T>G (p.Val714=)
c.2154T>G (p.Val718=)
c.2268+19717T>G (n.2268+19717T>G)
15g.27851437A>GCA488959086OCA2c.2283T>C (p.Val761=)
c.2211T>C (p.Val737=)
c.2349T>C (p.Val783=)
c.2325T>C (p.Val775=)
c.2307T>C (p.Val769=)
c.2277T>C (p.Val759=)
c.2235T>C (p.Val745=)
c.2142T>C (p.Val714=)
c.2154T>C (p.Val718=)
c.2268+19717T>C (n.2268+19717T>C)
15g.27851437A>TCA488959087OCA2c.2283T>A (p.Val761=)
c.2211T>A (p.Val737=)
c.2349T>A (p.Val783=)
c.2325T>A (p.Val775=)
c.2307T>A (p.Val769=)
c.2277T>A (p.Val759=)
c.2235T>A (p.Val745=)
c.2142T>A (p.Val714=)
c.2154T>A (p.Val718=)
c.2268+19717T>A (n.2268+19717T>A)
15g.27851438A=CA2166352021OCA2c.2282T= (p.Val761=)
c.2210T= (p.Val737=)
c.2348T= (p.Val783=)
c.2324T= (p.Val775=)
c.2306T= (p.Val769=)
c.2276T= (p.Val759=)
c.2234T= (p.Val745=)
c.2141T= (p.Val714=)
c.2153T= (p.Val718=)
c.2268+19716T= (n.2268+19716T=)
15g.27851438A>CCA391360121OCA2c.2282T>G (p.Val761Gly)
c.2210T>G (p.Val737Gly)
c.2348T>G (p.Val783Gly)
c.2324T>G (p.Val775Gly)
c.2306T>G (p.Val769Gly)
c.2276T>G (p.Val759Gly)
c.2234T>G (p.Val745Gly)
c.2141T>G (p.Val714Gly)
c.2153T>G (p.Val718Gly)
c.2268+19716T>G (n.2268+19716T>G)
15g.27851438A>GCA391360123OCA2c.2282T>C (p.Val761Ala)
c.2210T>C (p.Val737Ala)
c.2348T>C (p.Val783Ala)
c.2324T>C (p.Val775Ala)
c.2306T>C (p.Val769Ala)
c.2276T>C (p.Val759Ala)
c.2234T>C (p.Val745Ala)
c.2141T>C (p.Val714Ala)
c.2153T>C (p.Val718Ala)
c.2268+19716T>C (n.2268+19716T>C)
ClinVar dbSNP
15g.27851438A>TCA7438658OCA2c.2282T>A (p.Val761Asp)
c.2210T>A (p.Val737Asp)
c.2348T>A (p.Val783Asp)
c.2324T>A (p.Val775Asp)
c.2306T>A (p.Val769Asp)
c.2276T>A (p.Val759Asp)
c.2234T>A (p.Val745Asp)
c.2141T>A (p.Val714Asp)
c.2153T>A (p.Val718Asp)
c.2268+19716T>A (n.2268+19716T>A)
dbSNP ExAC gnomAD v2
15g.27851439C>ACA391360124OCA2c.2281G>T (p.Val761Phe)
c.2209G>T (p.Val737Phe)
c.2347G>T (p.Val783Phe)
c.2323G>T (p.Val775Phe)
c.2305G>T (p.Val769Phe)
c.2275G>T (p.Val759Phe)
c.2233G>T (p.Val745Phe)
c.2140G>T (p.Val714Phe)
c.2152G>T (p.Val718Phe)
c.2268+19715G>T (n.2268+19715G>T)
15g.27851439C>GCA391360126OCA2c.2281G>C (p.Val761Leu)
c.2209G>C (p.Val737Leu)
c.2347G>C (p.Val783Leu)
c.2323G>C (p.Val775Leu)
c.2305G>C (p.Val769Leu)
c.2275G>C (p.Val759Leu)
c.2233G>C (p.Val745Leu)
c.2140G>C (p.Val714Leu)
c.2152G>C (p.Val718Leu)
c.2268+19715G>C (n.2268+19715G>C)
gnomAD v4
15g.27851439C>TCA391360127OCA2c.2281G>A (p.Val761Ile)
c.2209G>A (p.Val737Ile)
c.2347G>A (p.Val783Ile)
c.2323G>A (p.Val775Ile)
c.2305G>A (p.Val769Ile)
c.2275G>A (p.Val759Ile)
c.2233G>A (p.Val745Ile)
c.2140G>A (p.Val714Ile)
c.2152G>A (p.Val718Ile)
c.2268+19715G>A (n.2268+19715G>A)
15g.27851440C>ACA391360129OCA2c.2280G>T (p.Glu760Asp)
c.2208G>T (p.Glu736Asp)
c.2346G>T (p.Glu782Asp)
c.2322G>T (p.Glu774Asp)
c.2304G>T (p.Glu768Asp)
c.2274G>T (p.Glu758Asp)
c.2232G>T (p.Glu744Asp)
c.2139G>T (p.Glu713Asp)
c.2151G>T (p.Glu717Asp)
c.2268+19714G>T (n.2268+19714G>T)
15g.27851440C>GCA391360128OCA2c.2280G>C (p.Glu760Asp)
c.2208G>C (p.Glu736Asp)
c.2346G>C (p.Glu782Asp)
c.2322G>C (p.Glu774Asp)
c.2304G>C (p.Glu768Asp)
c.2274G>C (p.Glu758Asp)
c.2232G>C (p.Glu744Asp)
c.2139G>C (p.Glu713Asp)
c.2151G>C (p.Glu717Asp)
c.2268+19714G>C (n.2268+19714G>C)
15g.27851440C>TCA488959088OCA2c.2280G>A (p.Glu760=)
c.2208G>A (p.Glu736=)
c.2346G>A (p.Glu782=)
c.2322G>A (p.Glu774=)
c.2304G>A (p.Glu768=)
c.2274G>A (p.Glu758=)
c.2232G>A (p.Glu744=)
c.2139G>A (p.Glu713=)
c.2151G>A (p.Glu717=)
c.2268+19714G>A (n.2268+19714G>A)
ClinVar
15g.27851441T>ACA7438659OCA2c.2279A>T (p.Glu760Val)
c.2207A>T (p.Glu736Val)
c.2345A>T (p.Glu782Val)
c.2321A>T (p.Glu774Val)
c.2303A>T (p.Glu768Val)
c.2273A>T (p.Glu758Val)
c.2231A>T (p.Glu744Val)
c.2138A>T (p.Glu713Val)
c.2150A>T (p.Glu717Val)
c.2268+19713A>T (n.2268+19713A>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.27851441T>CCA391360136OCA2c.2279A>G (p.Glu760Gly)
c.2207A>G (p.Glu736Gly)
c.2345A>G (p.Glu782Gly)
c.2321A>G (p.Glu774Gly)
c.2303A>G (p.Glu768Gly)
c.2273A>G (p.Glu758Gly)
c.2231A>G (p.Glu744Gly)
c.2138A>G (p.Glu713Gly)
c.2150A>G (p.Glu717Gly)
c.2268+19713A>G (n.2268+19713A>G)
15g.27851441T>GCA391360137OCA2c.2279A>C (p.Glu760Ala)
c.2207A>C (p.Glu736Ala)
c.2345A>C (p.Glu782Ala)
c.2321A>C (p.Glu774Ala)
c.2303A>C (p.Glu768Ala)
c.2273A>C (p.Glu758Ala)
c.2231A>C (p.Glu744Ala)
c.2138A>C (p.Glu713Ala)
c.2150A>C (p.Glu717Ala)
c.2268+19713A>C (n.2268+19713A>C)
15g.27851441T=CA2166352022OCA2c.2279A= (p.Glu760=)
c.2207A= (p.Glu736=)
c.2345A= (p.Glu782=)
c.2321A= (p.Glu774=)
c.2303A= (p.Glu768=)
c.2273A= (p.Glu758=)
c.2231A= (p.Glu744=)
c.2138A= (p.Glu713=)
c.2150A= (p.Glu717=)
c.2268+19713A= (n.2268+19713A=)
15g.27851442C>ACA391360138OCA2c.2278G>T (p.Glu760Ter)
c.2206G>T (p.Glu736Ter)
c.2344G>T (p.Glu782Ter)
c.2320G>T (p.Glu774Ter)
c.2302G>T (p.Glu768Ter)
c.2272G>T (p.Glu758Ter)
c.2230G>T (p.Glu744Ter)
c.2137G>T (p.Glu713Ter)
c.2149G>T (p.Glu717Ter)
c.2268+19712G>T (n.2268+19712G>T)
15g.27851442C>GCA391360139OCA2c.2278G>C (p.Glu760Gln)
c.2206G>C (p.Glu736Gln)
c.2344G>C (p.Glu782Gln)
c.2320G>C (p.Glu774Gln)
c.2302G>C (p.Glu768Gln)
c.2272G>C (p.Glu758Gln)
c.2230G>C (p.Glu744Gln)
c.2137G>C (p.Glu713Gln)
c.2149G>C (p.Glu717Gln)
c.2268+19712G>C (n.2268+19712G>C)
15g.27851442C>TCA391360142OCA2c.2278G>A (p.Glu760Lys)
c.2206G>A (p.Glu736Lys)
c.2344G>A (p.Glu782Lys)
c.2320G>A (p.Glu774Lys)
c.2302G>A (p.Glu768Lys)
c.2272G>A (p.Glu758Lys)
c.2230G>A (p.Glu744Lys)
c.2137G>A (p.Glu713Lys)
c.2149G>A (p.Glu717Lys)
c.2268+19712G>A (n.2268+19712G>A)
ClinVar
15g.27851443A=CA2166352023OCA2c.2277T= (p.Pro759=)
c.2205T= (p.Pro735=)
c.2343T= (p.Pro781=)
c.2319T= (p.Pro773=)
c.2301T= (p.Pro767=)
c.2271T= (p.Pro757=)
c.2229T= (p.Pro743=)
c.2136T= (p.Pro712=)
c.2148T= (p.Pro716=)
c.2268+19711T= (n.2268+19711T=)
15g.27851443A>CCA488959091OCA2c.2277T>G (p.Pro759=)
c.2205T>G (p.Pro735=)
c.2343T>G (p.Pro781=)
c.2319T>G (p.Pro773=)
c.2301T>G (p.Pro767=)
c.2271T>G (p.Pro757=)
c.2229T>G (p.Pro743=)
c.2136T>G (p.Pro712=)
c.2148T>G (p.Pro716=)
c.2268+19711T>G (n.2268+19711T>G)
dbSNP
15g.27851443A>GCA488959092OCA2c.2277T>C (p.Pro759=)
c.2205T>C (p.Pro735=)
c.2343T>C (p.Pro781=)
c.2319T>C (p.Pro773=)
c.2301T>C (p.Pro767=)
c.2271T>C (p.Pro757=)
c.2229T>C (p.Pro743=)
c.2136T>C (p.Pro712=)
c.2148T>C (p.Pro716=)
c.2268+19711T>C (n.2268+19711T>C)
15g.27851443A>TCA488959093OCA2c.2277T>A (p.Pro759=)
c.2205T>A (p.Pro735=)
c.2343T>A (p.Pro781=)
c.2319T>A (p.Pro773=)
c.2301T>A (p.Pro767=)
c.2271T>A (p.Pro757=)
c.2229T>A (p.Pro743=)
c.2136T>A (p.Pro712=)
c.2148T>A (p.Pro716=)
c.2268+19711T>A (n.2268+19711T>A)
15g.27851444G>ACA391360144OCA2c.2276C>T (p.Pro759Leu)
c.2204C>T (p.Pro735Leu)
c.2342C>T (p.Pro781Leu)
c.2318C>T (p.Pro773Leu)
c.2300C>T (p.Pro767Leu)
c.2270C>T (p.Pro757Leu)
c.2228C>T (p.Pro743Leu)
c.2135C>T (p.Pro712Leu)
c.2147C>T (p.Pro716Leu)
c.2268+19710C>T (n.2268+19710C>T)
gnomAD v4
15g.27851444G>CCA391360147OCA2c.2276C>G (p.Pro759Arg)
c.2204C>G (p.Pro735Arg)
c.2342C>G (p.Pro781Arg)
c.2318C>G (p.Pro773Arg)
c.2300C>G (p.Pro767Arg)
c.2270C>G (p.Pro757Arg)
c.2228C>G (p.Pro743Arg)
c.2135C>G (p.Pro712Arg)
c.2147C>G (p.Pro716Arg)
c.2268+19710C>G (n.2268+19710C>G)
15g.27851444G>TCA391360149OCA2c.2276C>A (p.Pro759His)
c.2204C>A (p.Pro735His)
c.2342C>A (p.Pro781His)
c.2318C>A (p.Pro773His)
c.2300C>A (p.Pro767His)
c.2270C>A (p.Pro757His)
c.2228C>A (p.Pro743His)
c.2135C>A (p.Pro712His)
c.2147C>A (p.Pro716His)
c.2268+19710C>A (n.2268+19710C>A)
15g.27851445G>ACA7438660OCA2c.2275C>T (p.Pro759Ser)
c.2203C>T (p.Pro735Ser)
c.2341C>T (p.Pro781Ser)
c.2317C>T (p.Pro773Ser)
c.2299C>T (p.Pro767Ser)
c.2269C>T (p.Pro757Ser)
c.2227C>T (p.Pro743Ser)
c.2134C>T (p.Pro712Ser)
c.2146C>T (p.Pro716Ser)
c.2268+19709C>T (n.2268+19709C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851445G>CCA391360152OCA2c.2275C>G (p.Pro759Ala)
c.2203C>G (p.Pro735Ala)
c.2341C>G (p.Pro781Ala)
c.2317C>G (p.Pro773Ala)
c.2299C>G (p.Pro767Ala)
c.2269C>G (p.Pro757Ala)
c.2227C>G (p.Pro743Ala)
c.2134C>G (p.Pro712Ala)
c.2146C>G (p.Pro716Ala)
c.2268+19709C>G (n.2268+19709C>G)
15g.27851445G=CA2166352024OCA2c.2275C= (p.Pro759=)
c.2203C= (p.Pro735=)
c.2341C= (p.Pro781=)
c.2317C= (p.Pro773=)
c.2299C= (p.Pro767=)
c.2269C= (p.Pro757=)
c.2227C= (p.Pro743=)
c.2134C= (p.Pro712=)
c.2146C= (p.Pro716=)
c.2268+19709C= (n.2268+19709C=)
15g.27851445G>TCA391360154OCA2c.2275C>A (p.Pro759Thr)
c.2203C>A (p.Pro735Thr)
c.2341C>A (p.Pro781Thr)
c.2317C>A (p.Pro773Thr)
c.2299C>A (p.Pro767Thr)
c.2269C>A (p.Pro757Thr)
c.2227C>A (p.Pro743Thr)
c.2134C>A (p.Pro712Thr)
c.2146C>A (p.Pro716Thr)
c.2268+19709C>A (n.2268+19709C>A)
15g.27851446G>ACA488959095OCA2c.2274C>T (p.Asp758=)
c.2202C>T (p.Asp734=)
c.2340C>T (p.Asp780=)
c.2316C>T (p.Asp772=)
c.2298C>T (p.Asp766=)
c.2268C>T (p.Asp756=)
c.2226C>T (p.Asp742=)
c.2133C>T (p.Asp711=)
c.2145C>T (p.Asp715=)
c.2268+19708C>T (n.2268+19708C>T)
dbSNP gnomAD v2
15g.27851446G>CCA391360155OCA2c.2274C>G (p.Asp758Glu)
c.2202C>G (p.Asp734Glu)
c.2340C>G (p.Asp780Glu)
c.2316C>G (p.Asp772Glu)
c.2298C>G (p.Asp766Glu)
c.2268C>G (p.Asp756Glu)
c.2226C>G (p.Asp742Glu)
c.2133C>G (p.Asp711Glu)
c.2145C>G (p.Asp715Glu)
c.2268+19708C>G (n.2268+19708C>G)
15g.27851446G=CA2166352025OCA2c.2274C= (p.Asp758=)
c.2202C= (p.Asp734=)
c.2340C= (p.Asp780=)
c.2316C= (p.Asp772=)
c.2298C= (p.Asp766=)
c.2268C= (p.Asp756=)
c.2226C= (p.Asp742=)
c.2133C= (p.Asp711=)
c.2145C= (p.Asp715=)
c.2268+19708C= (n.2268+19708C=)
15g.27851446G>TCA391360156OCA2c.2274C>A (p.Asp758Glu)
c.2202C>A (p.Asp734Glu)
c.2340C>A (p.Asp780Glu)
c.2316C>A (p.Asp772Glu)
c.2298C>A (p.Asp766Glu)
c.2268C>A (p.Asp756Glu)
c.2226C>A (p.Asp742Glu)
c.2133C>A (p.Asp711Glu)
c.2145C>A (p.Asp715Glu)
c.2268+19708C>A (n.2268+19708C>A)
dbSNP
15g.27851447T>ACA7438661OCA2c.2273A>T (p.Asp758Val)
c.2201A>T (p.Asp734Val)
c.2339A>T (p.Asp780Val)
c.2315A>T (p.Asp772Val)
c.2297A>T (p.Asp766Val)
c.2267A>T (p.Asp756Val)
c.2225A>T (p.Asp742Val)
c.2132A>T (p.Asp711Val)
c.2144A>T (p.Asp715Val)
c.2268+19707A>T (n.2268+19707A>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851447T>CCA242136OCA2c.2273A>G (p.Asp758Gly)
c.2201A>G (p.Asp734Gly)
c.2339A>G (p.Asp780Gly)
c.2315A>G (p.Asp772Gly)
c.2297A>G (p.Asp766Gly)
c.2267A>G (p.Asp756Gly)
c.2225A>G (p.Asp742Gly)
c.2132A>G (p.Asp711Gly)
c.2144A>G (p.Asp715Gly)
c.2268+19707A>G (n.2268+19707A>G)
ClinVar dbSNP gnomAD v4
15g.27851447T>GCA391360159OCA2c.2273A>C (p.Asp758Ala)
c.2201A>C (p.Asp734Ala)
c.2339A>C (p.Asp780Ala)
c.2315A>C (p.Asp772Ala)
c.2297A>C (p.Asp766Ala)
c.2267A>C (p.Asp756Ala)
c.2225A>C (p.Asp742Ala)
c.2132A>C (p.Asp711Ala)
c.2144A>C (p.Asp715Ala)
c.2268+19707A>C (n.2268+19707A>C)
dbSNP gnomAD v3 gnomAD v4
15g.27851447T=CA2166352026OCA2c.2273A= (p.Asp758=)
c.2201A= (p.Asp734=)
c.2339A= (p.Asp780=)
c.2315A= (p.Asp772=)
c.2297A= (p.Asp766=)
c.2267A= (p.Asp756=)
c.2225A= (p.Asp742=)
c.2132A= (p.Asp711=)
c.2144A= (p.Asp715=)
c.2268+19707A= (n.2268+19707A=)
15g.27851448C>ACA391360162OCA2c.2272G>T (p.Asp758Tyr)
c.2200G>T (p.Asp734Tyr)
c.2338G>T (p.Asp780Tyr)
c.2314G>T (p.Asp772Tyr)
c.2296G>T (p.Asp766Tyr)
c.2266G>T (p.Asp756Tyr)
c.2224G>T (p.Asp742Tyr)
c.2131G>T (p.Asp711Tyr)
c.2143G>T (p.Asp715Tyr)
c.2268+19706G>T (n.2268+19706G>T)
15g.27851448C=CA2166352027OCA2c.2272G= (p.Asp758=)
c.2200G= (p.Asp734=)
c.2338G= (p.Asp780=)
c.2314G= (p.Asp772=)
c.2296G= (p.Asp766=)
c.2266G= (p.Asp756=)
c.2224G= (p.Asp742=)
c.2131G= (p.Asp711=)
c.2143G= (p.Asp715=)
c.2268+19706G= (n.2268+19706G=)
15g.27851448C>GCA391360164OCA2c.2272G>C (p.Asp758His)
c.2200G>C (p.Asp734His)
c.2338G>C (p.Asp780His)
c.2314G>C (p.Asp772His)
c.2296G>C (p.Asp766His)
c.2266G>C (p.Asp756His)
c.2224G>C (p.Asp742His)
c.2131G>C (p.Asp711His)
c.2143G>C (p.Asp715His)
c.2268+19706G>C (n.2268+19706G>C)
15g.27851448C>TCA7438662OCA2c.2272G>A (p.Asp758Asn)
c.2200G>A (p.Asp734Asn)
c.2338G>A (p.Asp780Asn)
c.2314G>A (p.Asp772Asn)
c.2296G>A (p.Asp766Asn)
c.2266G>A (p.Asp756Asn)
c.2224G>A (p.Asp742Asn)
c.2131G>A (p.Asp711Asn)
c.2143G>A (p.Asp715Asn)
c.2268+19706G>A (n.2268+19706G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851449G>ACA7438663OCA2c.2271C>T (p.His757=)
c.2199C>T (p.His733=)
c.2337C>T (p.His779=)
c.2313C>T (p.His771=)
c.2295C>T (p.His765=)
c.2265C>T (p.His755=)
c.2223C>T (p.His741=)
c.2130C>T (p.His710=)
c.2142C>T (p.His714=)
c.2268+19705C>T (n.2268+19705C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.27851449G>CCA267845212OCA2c.2271C>G (p.His757Gln)
c.2199C>G (p.His733Gln)
c.2337C>G (p.His779Gln)
c.2313C>G (p.His771Gln)
c.2295C>G (p.His765Gln)
c.2265C>G (p.His755Gln)
c.2223C>G (p.His741Gln)
c.2130C>G (p.His710Gln)
c.2142C>G (p.His714Gln)
c.2268+19705C>G (n.2268+19705C>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.27851449G=CA2166352028OCA2c.2271C= (p.His757=)
c.2199C= (p.His733=)
c.2337C= (p.His779=)
c.2313C= (p.His771=)
c.2295C= (p.His765=)
c.2265C= (p.His755=)
c.2223C= (p.His741=)
c.2130C= (p.His710=)
c.2142C= (p.His714=)
c.2268+19705C= (n.2268+19705C=)
15g.27851449G>TCA391360170OCA2c.2271C>A (p.His757Gln)
c.2199C>A (p.His733Gln)
c.2337C>A (p.His779Gln)
c.2313C>A (p.His771Gln)
c.2295C>A (p.His765Gln)
c.2265C>A (p.His755Gln)
c.2223C>A (p.His741Gln)
c.2130C>A (p.His710Gln)
c.2142C>A (p.His714Gln)
c.2268+19705C>A (n.2268+19705C>A)
dbSNP gnomAD v3 gnomAD v4
15g.27851450T>ACA391360172OCA2c.2270A>T (p.His757Leu)
c.2198A>T (p.His733Leu)
c.2336A>T (p.His779Leu)
c.2312A>T (p.His771Leu)
c.2294A>T (p.His765Leu)
c.2264A>T (p.His755Leu)
c.2222A>T (p.His741Leu)
c.2129A>T (p.His710Leu)
c.2141A>T (p.His714Leu)
c.2268+19704A>T (n.2268+19704A>T)
15g.27851450T>CCA7438664OCA2c.2270A>G (p.His757Arg)
c.2198A>G (p.His733Arg)
c.2336A>G (p.His779Arg)
c.2312A>G (p.His771Arg)
c.2294A>G (p.His765Arg)
c.2264A>G (p.His755Arg)
c.2222A>G (p.His741Arg)
c.2129A>G (p.His710Arg)
c.2141A>G (p.His714Arg)
c.2268+19704A>G (n.2268+19704A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851450T>GCA391360176OCA2c.2270A>C (p.His757Pro)
c.2198A>C (p.His733Pro)
c.2336A>C (p.His779Pro)
c.2312A>C (p.His771Pro)
c.2294A>C (p.His765Pro)
c.2264A>C (p.His755Pro)
c.2222A>C (p.His741Pro)
c.2129A>C (p.His710Pro)
c.2141A>C (p.His714Pro)
c.2268+19704A>C (n.2268+19704A>C)
15g.27851450T=CA2166352029OCA2c.2270A= (p.His757=)
c.2198A= (p.His733=)
c.2336A= (p.His779=)
c.2312A= (p.His771=)
c.2294A= (p.His765=)
c.2264A= (p.His755=)
c.2222A= (p.His741=)
c.2129A= (p.His710=)
c.2141A= (p.His714=)
c.2268+19704A= (n.2268+19704A=)
15g.27851451G>ACA391360185OCA2c.2269C>T (p.His757Tyr)
c.2197C>T (p.His733Tyr)
c.2335C>T (p.His779Tyr)
c.2311C>T (p.His771Tyr)
c.2293C>T (p.His765Tyr)
c.2263C>T (p.His755Tyr)
c.2221C>T (p.His741Tyr)
c.2128C>T (p.His710Tyr)
c.2140C>T (p.His714Tyr)
c.2268+19703C>T (n.2268+19703C>T)
dbSNP gnomAD v2 gnomAD v4
15g.27851451G>CCA391360183OCA2c.2269C>G (p.His757Asp)
c.2197C>G (p.His733Asp)
c.2335C>G (p.His779Asp)
c.2311C>G (p.His771Asp)
c.2293C>G (p.His765Asp)
c.2263C>G (p.His755Asp)
c.2221C>G (p.His741Asp)
c.2128C>G (p.His710Asp)
c.2140C>G (p.His714Asp)
c.2268+19703C>G (n.2268+19703C>G)
15g.27851451G=CA2166352030OCA2c.2269C= (p.His757=)
c.2197C= (p.His733=)
c.2335C= (p.His779=)
c.2311C= (p.His771=)
c.2293C= (p.His765=)
c.2263C= (p.His755=)
c.2221C= (p.His741=)
c.2128C= (p.His710=)
c.2140C= (p.His714=)
c.2268+19703C= (n.2268+19703C=)
15g.27851451G>TCA391360179OCA2c.2269C>A (p.His757Asn)
c.2197C>A (p.His733Asn)
c.2335C>A (p.His779Asn)
c.2311C>A (p.His771Asn)
c.2293C>A (p.His765Asn)
c.2263C>A (p.His755Asn)
c.2221C>A (p.His741Asn)
c.2128C>A (p.His710Asn)
c.2140C>A (p.His714Asn)
c.2268+19703C>A (n.2268+19703C>A)
15g.27851452G>ACA488959099OCA2c.2268C>T (p.Ser756=)
c.2196C>T (p.Ser732=)
c.2334C>T (p.Ser778=)
c.2310C>T (p.Ser770=)
c.2292C>T (p.Ser764=)
c.2262C>T (p.Ser754=)
c.2220C>T (p.Ser740=)
c.2127C>T (p.Ser709=)
c.2139C>T (p.Ser713=)
c.2268+19702C>T (n.2268+19702C>T)
15g.27851452G>CCA391360187OCA2c.2268C>G (p.Ser756Arg)
c.2196C>G (p.Ser732Arg)
c.2334C>G (p.Ser778Arg)
c.2310C>G (p.Ser770Arg)
c.2292C>G (p.Ser764Arg)
c.2262C>G (p.Ser754Arg)
c.2220C>G (p.Ser740Arg)
c.2127C>G (p.Ser709Arg)
c.2139C>G (p.Ser713Arg)
c.2268+19702C>G (n.2268+19702C>G)
gnomAD v4
15g.27851452G>TCA391360189OCA2c.2268C>A (p.Ser756Arg)
c.2196C>A (p.Ser732Arg)
c.2334C>A (p.Ser778Arg)
c.2310C>A (p.Ser770Arg)
c.2292C>A (p.Ser764Arg)
c.2262C>A (p.Ser754Arg)
c.2220C>A (p.Ser740Arg)
c.2127C>A (p.Ser709Arg)
c.2139C>A (p.Ser713Arg)
c.2268+19702C>A (n.2268+19702C>A)
15g.27851453_27851457delCA2627378294OCA2c.2264_2268del (p.Leu755ProfsTer4)
c.2192_2196del (p.Leu731ProfsTer4)
c.2330_2334del (p.Leu777ProfsTer4)
c.2306_2310del (p.Leu769ProfsTer4)
c.2288_2292del (p.Leu763ProfsTer4)
c.2258_2262del (p.Leu753ProfsTer4)
c.2216_2220del (p.Leu739ProfsTer4)
c.2123_2127del (p.Leu708ProfsTer4)
c.2135_2139del (p.Leu712ProfsTer4)
c.2268+19698_2268+19702del (n.2268+19698_2268+19702del)
gnomAD v4
15g.27851453C>ACA391360192OCA2c.2267G>T (p.Ser756Ile)
c.2195G>T (p.Ser732Ile)
c.2333G>T (p.Ser778Ile)
c.2309G>T (p.Ser770Ile)
c.2291G>T (p.Ser764Ile)
c.2261G>T (p.Ser754Ile)
c.2219G>T (p.Ser740Ile)
c.2126G>T (p.Ser709Ile)
c.2138G>T (p.Ser713Ile)
c.2268+19701G>T (n.2268+19701G>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.27851453C=CA2166352031OCA2c.2267G= (p.Ser756=)
c.2195G= (p.Ser732=)
c.2333G= (p.Ser778=)
c.2309G= (p.Ser770=)
c.2291G= (p.Ser764=)
c.2261G= (p.Ser754=)
c.2219G= (p.Ser740=)
c.2126G= (p.Ser709=)
c.2138G= (p.Ser713=)
c.2268+19701G= (n.2268+19701G=)
15g.27851453C>GCA391360193OCA2c.2267G>C (p.Ser756Thr)
c.2195G>C (p.Ser732Thr)
c.2333G>C (p.Ser778Thr)
c.2309G>C (p.Ser770Thr)
c.2291G>C (p.Ser764Thr)
c.2261G>C (p.Ser754Thr)
c.2219G>C (p.Ser740Thr)
c.2126G>C (p.Ser709Thr)
c.2138G>C (p.Ser713Thr)
c.2268+19701G>C (n.2268+19701G>C)
15g.27851453C>TCA391360196OCA2c.2267G>A (p.Ser756Asn)
c.2195G>A (p.Ser732Asn)
c.2333G>A (p.Ser778Asn)
c.2309G>A (p.Ser770Asn)
c.2291G>A (p.Ser764Asn)
c.2261G>A (p.Ser754Asn)
c.2219G>A (p.Ser740Asn)
c.2126G>A (p.Ser709Asn)
c.2138G>A (p.Ser713Asn)
c.2268+19701G>A (n.2268+19701G>A)
15g.27851454T>ACA391360199OCA2c.2266A>T (p.Ser756Cys)
c.2194A>T (p.Ser732Cys)
c.2332A>T (p.Ser778Cys)
c.2308A>T (p.Ser770Cys)
c.2290A>T (p.Ser764Cys)
c.2260A>T (p.Ser754Cys)
c.2218A>T (p.Ser740Cys)
c.2125A>T (p.Ser709Cys)
c.2137A>T (p.Ser713Cys)
c.2268+19700A>T (n.2268+19700A>T)
15g.27851454T>CCA391360201OCA2c.2266A>G (p.Ser756Gly)
c.2194A>G (p.Ser732Gly)
c.2332A>G (p.Ser778Gly)
c.2308A>G (p.Ser770Gly)
c.2290A>G (p.Ser764Gly)
c.2260A>G (p.Ser754Gly)
c.2218A>G (p.Ser740Gly)
c.2125A>G (p.Ser709Gly)
c.2137A>G (p.Ser713Gly)
c.2268+19700A>G (n.2268+19700A>G)
15g.27851454T>GCA391360202OCA2c.2266A>C (p.Ser756Arg)
c.2194A>C (p.Ser732Arg)
c.2332A>C (p.Ser778Arg)
c.2308A>C (p.Ser770Arg)
c.2290A>C (p.Ser764Arg)
c.2260A>C (p.Ser754Arg)
c.2218A>C (p.Ser740Arg)
c.2125A>C (p.Ser709Arg)
c.2137A>C (p.Ser713Arg)
c.2268+19700A>C (n.2268+19700A>C)
15g.27851455C>ACA488959100OCA2c.2265G>T (p.Leu755=)
c.2193G>T (p.Leu731=)
c.2331G>T (p.Leu777=)
c.2307G>T (p.Leu769=)
c.2289G>T (p.Leu763=)
c.2259G>T (p.Leu753=)
c.2217G>T (p.Leu739=)
c.2124G>T (p.Leu708=)
c.2136G>T (p.Leu712=)
c.2268+19699G>T (n.2268+19699G>T)
15g.27851455C>GCA488959103OCA2c.2265G>C (p.Leu755=)
c.2193G>C (p.Leu731=)
c.2331G>C (p.Leu777=)
c.2307G>C (p.Leu769=)
c.2289G>C (p.Leu763=)
c.2259G>C (p.Leu753=)
c.2217G>C (p.Leu739=)
c.2124G>C (p.Leu708=)
c.2136G>C (p.Leu712=)
c.2268+19699G>C (n.2268+19699G>C)
15g.27851455C>TCA488959101OCA2c.2265G>A (p.Leu755=)
c.2193G>A (p.Leu731=)
c.2331G>A (p.Leu777=)
c.2307G>A (p.Leu769=)
c.2289G>A (p.Leu763=)
c.2259G>A (p.Leu753=)
c.2217G>A (p.Leu739=)
c.2124G>A (p.Leu708=)
c.2136G>A (p.Leu712=)
c.2268+19699G>A (n.2268+19699G>A)
15g.27851456A>CCA391360204OCA2c.2264T>G (p.Leu755Arg)
c.2192T>G (p.Leu731Arg)
c.2330T>G (p.Leu777Arg)
c.2306T>G (p.Leu769Arg)
c.2288T>G (p.Leu763Arg)
c.2258T>G (p.Leu753Arg)
c.2216T>G (p.Leu739Arg)
c.2123T>G (p.Leu708Arg)
c.2135T>G (p.Leu712Arg)
c.2268+19698T>G (n.2268+19698T>G)
gnomAD v4
15g.27851456A>GCA391360206OCA2c.2264T>C (p.Leu755Pro)
c.2192T>C (p.Leu731Pro)
c.2330T>C (p.Leu777Pro)
c.2306T>C (p.Leu769Pro)
c.2288T>C (p.Leu763Pro)
c.2258T>C (p.Leu753Pro)
c.2216T>C (p.Leu739Pro)
c.2123T>C (p.Leu708Pro)
c.2135T>C (p.Leu712Pro)
c.2268+19698T>C (n.2268+19698T>C)
15g.27851456A>TCA391360207OCA2c.2264T>A (p.Leu755Gln)
c.2192T>A (p.Leu731Gln)
c.2330T>A (p.Leu777Gln)
c.2306T>A (p.Leu769Gln)
c.2288T>A (p.Leu763Gln)
c.2258T>A (p.Leu753Gln)
c.2216T>A (p.Leu739Gln)
c.2123T>A (p.Leu708Gln)
c.2135T>A (p.Leu712Gln)
c.2268+19698T>A (n.2268+19698T>A)
15g.27851457G>ACA488959104OCA2c.2263C>T (p.Leu755=)
c.2191C>T (p.Leu731=)
c.2329C>T (p.Leu777=)
c.2305C>T (p.Leu769=)
c.2287C>T (p.Leu763=)
c.2257C>T (p.Leu753=)
c.2215C>T (p.Leu739=)
c.2122C>T (p.Leu708=)
c.2134C>T (p.Leu712=)
c.2268+19697C>T (n.2268+19697C>T)
15g.27851457G>CCA391360210OCA2c.2263C>G (p.Leu755Val)
c.2191C>G (p.Leu731Val)
c.2329C>G (p.Leu777Val)
c.2305C>G (p.Leu769Val)
c.2287C>G (p.Leu763Val)
c.2257C>G (p.Leu753Val)
c.2215C>G (p.Leu739Val)
c.2122C>G (p.Leu708Val)
c.2134C>G (p.Leu712Val)
c.2268+19697C>G (n.2268+19697C>G)
gnomAD v4
15g.27851457G>TCA391360212OCA2c.2263C>A (p.Leu755Met)
c.2191C>A (p.Leu731Met)
c.2329C>A (p.Leu777Met)
c.2305C>A (p.Leu769Met)
c.2287C>A (p.Leu763Met)
c.2257C>A (p.Leu753Met)
c.2215C>A (p.Leu739Met)
c.2122C>A (p.Leu708Met)
c.2134C>A (p.Leu712Met)
c.2268+19697C>A (n.2268+19697C>A)
15g.27851458G>ACA488959105OCA2c.2262C>T (p.Asn754=)
c.2190C>T (p.Asn730=)
c.2328C>T (p.Asn776=)
c.2304C>T (p.Asn768=)
c.2286C>T (p.Asn762=)
c.2256C>T (p.Asn752=)
c.2214C>T (p.Asn738=)
c.2121C>T (p.Asn707=)
c.2133C>T (p.Asn711=)
c.2268+19696C>T (n.2268+19696C>T)
15g.27851458G>CCA391360215OCA2c.2262C>G (p.Asn754Lys)
c.2190C>G (p.Asn730Lys)
c.2328C>G (p.Asn776Lys)
c.2304C>G (p.Asn768Lys)
c.2286C>G (p.Asn762Lys)
c.2256C>G (p.Asn752Lys)
c.2214C>G (p.Asn738Lys)
c.2121C>G (p.Asn707Lys)
c.2133C>G (p.Asn711Lys)
c.2268+19696C>G (n.2268+19696C>G)
COSMIC
15g.27851458G>TCA391360214OCA2c.2262C>A (p.Asn754Lys)
c.2190C>A (p.Asn730Lys)
c.2328C>A (p.Asn776Lys)
c.2304C>A (p.Asn768Lys)
c.2286C>A (p.Asn762Lys)
c.2256C>A (p.Asn752Lys)
c.2214C>A (p.Asn738Lys)
c.2121C>A (p.Asn707Lys)
c.2133C>A (p.Asn711Lys)
c.2268+19696C>A (n.2268+19696C>A)
COSMIC
15g.27851459T>ACA391360217OCA2c.2261A>T (p.Asn754Ile)
c.2189A>T (p.Asn730Ile)
c.2327A>T (p.Asn776Ile)
c.2303A>T (p.Asn768Ile)
c.2285A>T (p.Asn762Ile)
c.2255A>T (p.Asn752Ile)
c.2213A>T (p.Asn738Ile)
c.2120A>T (p.Asn707Ile)
c.2132A>T (p.Asn711Ile)
c.2268+19695A>T (n.2268+19695A>T)
15g.27851459T>CCA391360221OCA2c.2261A>G (p.Asn754Ser)
c.2189A>G (p.Asn730Ser)
c.2327A>G (p.Asn776Ser)
c.2303A>G (p.Asn768Ser)
c.2285A>G (p.Asn762Ser)
c.2255A>G (p.Asn752Ser)
c.2213A>G (p.Asn738Ser)
c.2120A>G (p.Asn707Ser)
c.2132A>G (p.Asn711Ser)
c.2268+19695A>G (n.2268+19695A>G)
15g.27851459T>GCA391360219OCA2c.2261A>C (p.Asn754Thr)
c.2189A>C (p.Asn730Thr)
c.2327A>C (p.Asn776Thr)
c.2303A>C (p.Asn768Thr)
c.2285A>C (p.Asn762Thr)
c.2255A>C (p.Asn752Thr)
c.2213A>C (p.Asn738Thr)
c.2120A>C (p.Asn707Thr)
c.2132A>C (p.Asn711Thr)
c.2268+19695A>C (n.2268+19695A>C)
dbSNP
15g.27851459T=CA2166352032OCA2c.2261A= (p.Asn754=)
c.2189A= (p.Asn730=)
c.2327A= (p.Asn776=)
c.2303A= (p.Asn768=)
c.2285A= (p.Asn762=)
c.2255A= (p.Asn752=)
c.2213A= (p.Asn738=)
c.2120A= (p.Asn707=)
c.2132A= (p.Asn711=)
c.2268+19695A= (n.2268+19695A=)
15g.27851460T>ACA391360223OCA2c.2260A>T (p.Asn754Tyr)
c.2188A>T (p.Asn730Tyr)
c.2326A>T (p.Asn776Tyr)
c.2302A>T (p.Asn768Tyr)
c.2284A>T (p.Asn762Tyr)
c.2254A>T (p.Asn752Tyr)
c.2212A>T (p.Asn738Tyr)
c.2119A>T (p.Asn707Tyr)
c.2131A>T (p.Asn711Tyr)
c.2268+19694A>T (n.2268+19694A>T)
15g.27851460T>CCA391360226OCA2c.2260A>G (p.Asn754Asp)
c.2188A>G (p.Asn730Asp)
c.2326A>G (p.Asn776Asp)
c.2302A>G (p.Asn768Asp)
c.2284A>G (p.Asn762Asp)
c.2254A>G (p.Asn752Asp)
c.2212A>G (p.Asn738Asp)
c.2119A>G (p.Asn707Asp)
c.2131A>G (p.Asn711Asp)
c.2268+19694A>G (n.2268+19694A>G)
COSMIC
15g.27851460T>GCA391360224OCA2c.2260A>C (p.Asn754His)
c.2188A>C (p.Asn730His)
c.2326A>C (p.Asn776His)
c.2302A>C (p.Asn768His)
c.2284A>C (p.Asn762His)
c.2254A>C (p.Asn752His)
c.2212A>C (p.Asn738His)
c.2119A>C (p.Asn707His)
c.2131A>C (p.Asn711His)
c.2268+19694A>C (n.2268+19694A>C)
15g.27851461C>ACA488959106OCA2c.2259G>T (p.Leu753=)
c.2187G>T (p.Leu729=)
c.2325G>T (p.Leu775=)
c.2301G>T (p.Leu767=)
c.2283G>T (p.Leu761=)
c.2253G>T (p.Leu751=)
c.2211G>T (p.Leu737=)
c.2118G>T (p.Leu706=)
c.2130G>T (p.Leu710=)
c.2268+19693G>T (n.2268+19693G>T)
COSMIC
15g.27851461C=CA2166352033OCA2c.2259G= (p.Leu753=)
c.2187G= (p.Leu729=)
c.2325G= (p.Leu775=)
c.2301G= (p.Leu767=)
c.2283G= (p.Leu761=)
c.2253G= (p.Leu751=)
c.2211G= (p.Leu737=)
c.2118G= (p.Leu706=)
c.2130G= (p.Leu710=)
c.2268+19693G= (n.2268+19693G=)
15g.27851461C>GCA488959108OCA2c.2259G>C (p.Leu753=)
c.2187G>C (p.Leu729=)
c.2325G>C (p.Leu775=)
c.2301G>C (p.Leu767=)
c.2283G>C (p.Leu761=)
c.2253G>C (p.Leu751=)
c.2211G>C (p.Leu737=)
c.2118G>C (p.Leu706=)
c.2130G>C (p.Leu710=)
c.2268+19693G>C (n.2268+19693G>C)
15g.27851461C>TCA488959107OCA2c.2259G>A (p.Leu753=)
c.2187G>A (p.Leu729=)
c.2325G>A (p.Leu775=)
c.2301G>A (p.Leu767=)
c.2283G>A (p.Leu761=)
c.2253G>A (p.Leu751=)
c.2211G>A (p.Leu737=)
c.2118G>A (p.Leu706=)
c.2130G>A (p.Leu710=)
c.2268+19693G>A (n.2268+19693G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.27851462A=CA2166352034OCA2c.2258T= (p.Leu753=)
c.2186T= (p.Leu729=)
c.2324T= (p.Leu775=)
c.2300T= (p.Leu767=)
c.2282T= (p.Leu761=)
c.2252T= (p.Leu751=)
c.2210T= (p.Leu737=)
c.2117T= (p.Leu706=)
c.2129T= (p.Leu710=)
c.2268+19692T= (n.2268+19692T=)
15g.27851462A>CCA391360229OCA2c.2258T>G (p.Leu753Arg)
c.2186T>G (p.Leu729Arg)
c.2324T>G (p.Leu775Arg)
c.2300T>G (p.Leu767Arg)
c.2282T>G (p.Leu761Arg)
c.2252T>G (p.Leu751Arg)
c.2210T>G (p.Leu737Arg)
c.2117T>G (p.Leu706Arg)
c.2129T>G (p.Leu710Arg)
c.2268+19692T>G (n.2268+19692T>G)
15g.27851462A>GCA391360231OCA2c.2258T>C (p.Leu753Pro)
c.2186T>C (p.Leu729Pro)
c.2324T>C (p.Leu775Pro)
c.2300T>C (p.Leu767Pro)
c.2282T>C (p.Leu761Pro)
c.2252T>C (p.Leu751Pro)
c.2210T>C (p.Leu737Pro)
c.2117T>C (p.Leu706Pro)
c.2129T>C (p.Leu710Pro)
c.2268+19692T>C (n.2268+19692T>C)
15g.27851462A>TCA391360230OCA2c.2258T>A (p.Leu753Gln)
c.2186T>A (p.Leu729Gln)
c.2324T>A (p.Leu775Gln)
c.2300T>A (p.Leu767Gln)
c.2282T>A (p.Leu761Gln)
c.2252T>A (p.Leu751Gln)
c.2210T>A (p.Leu737Gln)
c.2117T>A (p.Leu706Gln)
c.2129T>A (p.Leu710Gln)
c.2268+19692T>A (n.2268+19692T>A)
dbSNP gnomAD v4
15g.27851463G>ACA488959110OCA2c.2257C>T (p.Leu753=)
c.2185C>T (p.Leu729=)
c.2323C>T (p.Leu775=)
c.2299C>T (p.Leu767=)
c.2281C>T (p.Leu761=)
c.2251C>T (p.Leu751=)
c.2209C>T (p.Leu737=)
c.2116C>T (p.Leu706=)
c.2128C>T (p.Leu710=)
c.2268+19691C>T (n.2268+19691C>T)
15g.27851463G>CCA391360234OCA2c.2257C>G (p.Leu753Val)
c.2185C>G (p.Leu729Val)
c.2323C>G (p.Leu775Val)
c.2299C>G (p.Leu767Val)
c.2281C>G (p.Leu761Val)
c.2251C>G (p.Leu751Val)
c.2209C>G (p.Leu737Val)
c.2116C>G (p.Leu706Val)
c.2128C>G (p.Leu710Val)
c.2268+19691C>G (n.2268+19691C>G)
15g.27851463G>TCA391360236OCA2c.2257C>A (p.Leu753Met)
c.2185C>A (p.Leu729Met)
c.2323C>A (p.Leu775Met)
c.2299C>A (p.Leu767Met)
c.2281C>A (p.Leu761Met)
c.2251C>A (p.Leu751Met)
c.2209C>A (p.Leu737Met)
c.2116C>A (p.Leu706Met)
c.2128C>A (p.Leu710Met)
c.2268+19691C>A (n.2268+19691C>A)
15g.27851464G>ACA488959111OCA2c.2256C>T (p.Leu752=)
c.2184C>T (p.Leu728=)
c.2322C>T (p.Leu774=)
c.2298C>T (p.Leu766=)
c.2280C>T (p.Leu760=)
c.2250C>T (p.Leu750=)
c.2208C>T (p.Leu736=)
c.2115C>T (p.Leu705=)
c.2127C>T (p.Leu709=)
c.2268+19690C>T (n.2268+19690C>T)
15g.27851464G>CCA7438665OCA2c.2256C>G (p.Leu752=)
c.2184C>G (p.Leu728=)
c.2322C>G (p.Leu774=)
c.2298C>G (p.Leu766=)
c.2280C>G (p.Leu760=)
c.2250C>G (p.Leu750=)
c.2208C>G (p.Leu736=)
c.2115C>G (p.Leu705=)
c.2127C>G (p.Leu709=)
c.2268+19690C>G (n.2268+19690C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851464G=CA2166352035OCA2c.2256C= (p.Leu752=)
c.2184C= (p.Leu728=)
c.2322C= (p.Leu774=)
c.2298C= (p.Leu766=)
c.2280C= (p.Leu760=)
c.2250C= (p.Leu750=)
c.2208C= (p.Leu736=)
c.2115C= (p.Leu705=)
c.2127C= (p.Leu709=)
c.2268+19690C= (n.2268+19690C=)
15g.27851464G>TCA488959112OCA2c.2256C>A (p.Leu752=)
c.2184C>A (p.Leu728=)
c.2322C>A (p.Leu774=)
c.2298C>A (p.Leu766=)
c.2280C>A (p.Leu760=)
c.2250C>A (p.Leu750=)
c.2208C>A (p.Leu736=)
c.2115C>A (p.Leu705=)
c.2127C>A (p.Leu709=)
c.2268+19690C>A (n.2268+19690C>A)
15g.27851465A>CCA391360240OCA2c.2255T>G (p.Leu752Arg)
c.2183T>G (p.Leu728Arg)
c.2321T>G (p.Leu774Arg)
c.2297T>G (p.Leu766Arg)
c.2279T>G (p.Leu760Arg)
c.2249T>G (p.Leu750Arg)
c.2207T>G (p.Leu736Arg)
c.2114T>G (p.Leu705Arg)
c.2126T>G (p.Leu709Arg)
c.2268+19689T>G (n.2268+19689T>G)
15g.27851465A>GCA391360238OCA2c.2255T>C (p.Leu752Pro)
c.2183T>C (p.Leu728Pro)
c.2321T>C (p.Leu774Pro)
c.2297T>C (p.Leu766Pro)
c.2279T>C (p.Leu760Pro)
c.2249T>C (p.Leu750Pro)
c.2207T>C (p.Leu736Pro)
c.2114T>C (p.Leu705Pro)
c.2126T>C (p.Leu709Pro)
c.2268+19689T>C (n.2268+19689T>C)
ClinVar
15g.27851465A>TCA391360239OCA2c.2255T>A (p.Leu752His)
c.2183T>A (p.Leu728His)
c.2321T>A (p.Leu774His)
c.2297T>A (p.Leu766His)
c.2279T>A (p.Leu760His)
c.2249T>A (p.Leu750His)
c.2207T>A (p.Leu736His)
c.2114T>A (p.Leu705His)
c.2126T>A (p.Leu709His)
c.2268+19689T>A (n.2268+19689T>A)
15g.27851466G>ACA391360242OCA2c.2254C>T (p.Leu752Phe)
c.2182C>T (p.Leu728Phe)
c.2320C>T (p.Leu774Phe)
c.2296C>T (p.Leu766Phe)
c.2278C>T (p.Leu760Phe)
c.2248C>T (p.Leu750Phe)
c.2206C>T (p.Leu736Phe)
c.2113C>T (p.Leu705Phe)
c.2125C>T (p.Leu709Phe)
c.2268+19688C>T (n.2268+19688C>T)
15g.27851466G>CCA391360244OCA2c.2254C>G (p.Leu752Val)
c.2182C>G (p.Leu728Val)
c.2320C>G (p.Leu774Val)
c.2296C>G (p.Leu766Val)
c.2278C>G (p.Leu760Val)
c.2248C>G (p.Leu750Val)
c.2206C>G (p.Leu736Val)
c.2113C>G (p.Leu705Val)
c.2125C>G (p.Leu709Val)
c.2268+19688C>G (n.2268+19688C>G)
gnomAD v4
15g.27851466G>TCA391360246OCA2c.2254C>A (p.Leu752Ile)
c.2182C>A (p.Leu728Ile)
c.2320C>A (p.Leu774Ile)
c.2296C>A (p.Leu766Ile)
c.2278C>A (p.Leu760Ile)
c.2248C>A (p.Leu750Ile)
c.2206C>A (p.Leu736Ile)
c.2113C>A (p.Leu705Ile)
c.2125C>A (p.Leu709Ile)
c.2268+19688C>A (n.2268+19688C>A)
gnomAD v4 COSMIC
15g.27851467C>ACA488959113OCA2c.2253G>T (p.Val751=)
c.2181G>T (p.Val727=)
c.2319G>T (p.Val773=)
c.2295G>T (p.Val765=)
c.2277G>T (p.Val759=)
c.2247G>T (p.Val749=)
c.2205G>T (p.Val735=)
c.2112G>T (p.Val704=)
c.2124G>T (p.Val708=)
c.2268+19687G>T (n.2268+19687G>T)
15g.27851467C>GCA488959114OCA2c.2253G>C (p.Val751=)
c.2181G>C (p.Val727=)
c.2319G>C (p.Val773=)
c.2295G>C (p.Val765=)
c.2277G>C (p.Val759=)
c.2247G>C (p.Val749=)
c.2205G>C (p.Val735=)
c.2112G>C (p.Val704=)
c.2124G>C (p.Val708=)
c.2268+19687G>C (n.2268+19687G>C)
15g.27851467C>TCA488959115OCA2c.2253G>A (p.Val751=)
c.2181G>A (p.Val727=)
c.2319G>A (p.Val773=)
c.2295G>A (p.Val765=)
c.2277G>A (p.Val759=)
c.2247G>A (p.Val749=)
c.2205G>A (p.Val735=)
c.2112G>A (p.Val704=)
c.2124G>A (p.Val708=)
c.2268+19687G>A (n.2268+19687G>A)
ClinVar
15g.27851468A>CCA391360249OCA2c.2252T>G (p.Val751Gly)
c.2180T>G (p.Val727Gly)
c.2318T>G (p.Val773Gly)
c.2294T>G (p.Val765Gly)
c.2276T>G (p.Val759Gly)
c.2246T>G (p.Val749Gly)
c.2204T>G (p.Val735Gly)
c.2111T>G (p.Val704Gly)
c.2123T>G (p.Val708Gly)
c.2268+19686T>G (n.2268+19686T>G)
15g.27851468A>GCA391360250OCA2c.2252T>C (p.Val751Ala)
c.2180T>C (p.Val727Ala)
c.2318T>C (p.Val773Ala)
c.2294T>C (p.Val765Ala)
c.2276T>C (p.Val759Ala)
c.2246T>C (p.Val749Ala)
c.2204T>C (p.Val735Ala)
c.2111T>C (p.Val704Ala)
c.2123T>C (p.Val708Ala)
c.2268+19686T>C (n.2268+19686T>C)
15g.27851468A>TCA391360252OCA2c.2252T>A (p.Val751Glu)
c.2180T>A (p.Val727Glu)
c.2318T>A (p.Val773Glu)
c.2294T>A (p.Val765Glu)
c.2276T>A (p.Val759Glu)
c.2246T>A (p.Val749Glu)
c.2204T>A (p.Val735Glu)
c.2111T>A (p.Val704Glu)
c.2123T>A (p.Val708Glu)
c.2268+19686T>A (n.2268+19686T>A)
15g.27851469C>ACA391360254OCA2c.2251G>T (p.Val751Leu)
c.2179G>T (p.Val727Leu)
c.2317G>T (p.Val773Leu)
c.2293G>T (p.Val765Leu)
c.2275G>T (p.Val759Leu)
c.2245G>T (p.Val749Leu)
c.2203G>T (p.Val735Leu)
c.2110G>T (p.Val704Leu)
c.2122G>T (p.Val708Leu)
c.2268+19685G>T (n.2268+19685G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.27851469C=CA2166352036OCA2c.2251G= (p.Val751=)
c.2179G= (p.Val727=)
c.2317G= (p.Val773=)
c.2293G= (p.Val765=)
c.2275G= (p.Val759=)
c.2245G= (p.Val749=)
c.2203G= (p.Val735=)
c.2110G= (p.Val704=)
c.2122G= (p.Val708=)
c.2268+19685G= (n.2268+19685G=)
15g.27851469C>GCA391360256OCA2c.2251G>C (p.Val751Leu)
c.2179G>C (p.Val727Leu)
c.2317G>C (p.Val773Leu)
c.2293G>C (p.Val765Leu)
c.2275G>C (p.Val759Leu)
c.2245G>C (p.Val749Leu)
c.2203G>C (p.Val735Leu)
c.2110G>C (p.Val704Leu)
c.2122G>C (p.Val708Leu)
c.2268+19685G>C (n.2268+19685G>C)
15g.27851469C>TCA7438666OCA2c.2251G>A (p.Val751Met)
c.2179G>A (p.Val727Met)
c.2317G>A (p.Val773Met)
c.2293G>A (p.Val765Met)
c.2275G>A (p.Val759Met)
c.2245G>A (p.Val749Met)
c.2203G>A (p.Val735Met)
c.2110G>A (p.Val704Met)
c.2122G>A (p.Val708Met)
c.2268+19685G>A (n.2268+19685G>A)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
15g.27851470G>ACA7438667OCA2c.2250C>T (p.Pro750=)
c.2178C>T (p.Pro726=)
c.2316C>T (p.Pro772=)
c.2292C>T (p.Pro764=)
c.2274C>T (p.Pro758=)
c.2244C>T (p.Pro748=)
c.2202C>T (p.Pro734=)
c.2109C>T (p.Pro703=)
c.2121C>T (p.Pro707=)
c.2268+19684C>T (n.2268+19684C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851470G>CCA488959116OCA2c.2250C>G (p.Pro750=)
c.2178C>G (p.Pro726=)
c.2316C>G (p.Pro772=)
c.2292C>G (p.Pro764=)
c.2274C>G (p.Pro758=)
c.2244C>G (p.Pro748=)
c.2202C>G (p.Pro734=)
c.2109C>G (p.Pro703=)
c.2121C>G (p.Pro707=)
c.2268+19684C>G (n.2268+19684C>G)
15g.27851470G=CA2166352037OCA2c.2250C= (p.Pro750=)
c.2178C= (p.Pro726=)
c.2316C= (p.Pro772=)
c.2292C= (p.Pro764=)
c.2274C= (p.Pro758=)
c.2244C= (p.Pro748=)
c.2202C= (p.Pro734=)
c.2109C= (p.Pro703=)
c.2121C= (p.Pro707=)
c.2268+19684C= (n.2268+19684C=)
15g.27851470G>TCA488959117OCA2c.2250C>A (p.Pro750=)
c.2178C>A (p.Pro726=)
c.2316C>A (p.Pro772=)
c.2292C>A (p.Pro764=)
c.2274C>A (p.Pro758=)
c.2244C>A (p.Pro748=)
c.2202C>A (p.Pro734=)
c.2109C>A (p.Pro703=)
c.2121C>A (p.Pro707=)
c.2268+19684C>A (n.2268+19684C>A)
15g.27851471G>ACA391360259OCA2c.2249C>T (p.Pro750Leu)
c.2177C>T (p.Pro726Leu)
c.2315C>T (p.Pro772Leu)
c.2291C>T (p.Pro764Leu)
c.2273C>T (p.Pro758Leu)
c.2243C>T (p.Pro748Leu)
c.2201C>T (p.Pro734Leu)
c.2108C>T (p.Pro703Leu)
c.2120C>T (p.Pro707Leu)
c.2268+19683C>T (n.2268+19683C>T)
gnomAD v4
15g.27851471G>CCA391360262OCA2c.2249C>G (p.Pro750Arg)
c.2177C>G (p.Pro726Arg)
c.2315C>G (p.Pro772Arg)
c.2291C>G (p.Pro764Arg)
c.2273C>G (p.Pro758Arg)
c.2243C>G (p.Pro748Arg)
c.2201C>G (p.Pro734Arg)
c.2108C>G (p.Pro703Arg)
c.2120C>G (p.Pro707Arg)
c.2268+19683C>G (n.2268+19683C>G)
15g.27851471G=CA2166352038OCA2c.2249C= (p.Pro750=)
c.2177C= (p.Pro726=)
c.2315C= (p.Pro772=)
c.2291C= (p.Pro764=)
c.2273C= (p.Pro758=)
c.2243C= (p.Pro748=)
c.2201C= (p.Pro734=)
c.2108C= (p.Pro703=)
c.2120C= (p.Pro707=)
c.2268+19683C= (n.2268+19683C=)
15g.27851471G>TCA267845230OCA2c.2249C>A (p.Pro750His)
c.2177C>A (p.Pro726His)
c.2315C>A (p.Pro772His)
c.2291C>A (p.Pro764His)
c.2273C>A (p.Pro758His)
c.2243C>A (p.Pro748His)
c.2201C>A (p.Pro734His)
c.2108C>A (p.Pro703His)
c.2120C>A (p.Pro707His)
c.2268+19683C>A (n.2268+19683C>A)
dbSNP gnomAD v2 gnomAD v4
15g.27851472G>ACA391360264OCA2c.2248C>T (p.Pro750Ser)
c.2176C>T (p.Pro726Ser)
c.2314C>T (p.Pro772Ser)
c.2290C>T (p.Pro764Ser)
c.2272C>T (p.Pro758Ser)
c.2242C>T (p.Pro748Ser)
c.2200C>T (p.Pro734Ser)
c.2107C>T (p.Pro703Ser)
c.2119C>T (p.Pro707Ser)
c.2268+19682C>T (n.2268+19682C>T)
15g.27851472G>CCA391360266OCA2c.2248C>G (p.Pro750Ala)
c.2176C>G (p.Pro726Ala)
c.2314C>G (p.Pro772Ala)
c.2290C>G (p.Pro764Ala)
c.2272C>G (p.Pro758Ala)
c.2242C>G (p.Pro748Ala)
c.2200C>G (p.Pro734Ala)
c.2107C>G (p.Pro703Ala)
c.2119C>G (p.Pro707Ala)
c.2268+19682C>G (n.2268+19682C>G)
dbSNP
15g.27851472G=CA2166352039OCA2c.2248C= (p.Pro750=)
c.2176C= (p.Pro726=)
c.2314C= (p.Pro772=)
c.2290C= (p.Pro764=)
c.2272C= (p.Pro758=)
c.2242C= (p.Pro748=)
c.2200C= (p.Pro734=)
c.2107C= (p.Pro703=)
c.2119C= (p.Pro707=)
c.2268+19682C= (n.2268+19682C=)
15g.27851472G>TCA391360268OCA2c.2248C>A (p.Pro750Thr)
c.2176C>A (p.Pro726Thr)
c.2314C>A (p.Pro772Thr)
c.2290C>A (p.Pro764Thr)
c.2272C>A (p.Pro758Thr)
c.2242C>A (p.Pro748Thr)
c.2200C>A (p.Pro734Thr)
c.2107C>A (p.Pro703Thr)
c.2119C>A (p.Pro707Thr)
c.2268+19682C>A (n.2268+19682C>A)
15g.27851473A>CCA391360270OCA2c.2247T>G (p.Ile749Met)
c.2175T>G (p.Ile725Met)
c.2313T>G (p.Ile771Met)
c.2289T>G (p.Ile763Met)
c.2271T>G (p.Ile757Met)
c.2241T>G (p.Ile747Met)
c.2199T>G (p.Ile733Met)
c.2106T>G (p.Ile702Met)
c.2118T>G (p.Ile706Met)
c.2268+19681T>G (n.2268+19681T>G)
15g.27851473A>GCA488959119OCA2c.2247T>C (p.Ile749=)
c.2175T>C (p.Ile725=)
c.2313T>C (p.Ile771=)
c.2289T>C (p.Ile763=)
c.2271T>C (p.Ile757=)
c.2241T>C (p.Ile747=)
c.2199T>C (p.Ile733=)
c.2106T>C (p.Ile702=)
c.2118T>C (p.Ile706=)
c.2268+19681T>C (n.2268+19681T>C)
15g.27851473A>TCA488959121OCA2c.2247T>A (p.Ile749=)
c.2175T>A (p.Ile725=)
c.2313T>A (p.Ile771=)
c.2289T>A (p.Ile763=)
c.2271T>A (p.Ile757=)
c.2241T>A (p.Ile747=)
c.2199T>A (p.Ile733=)
c.2106T>A (p.Ile702=)
c.2118T>A (p.Ile706=)
c.2268+19681T>A (n.2268+19681T>A)
dbSNP
15g.27851474A>CCA391360272OCA2c.2246T>G (p.Ile749Ser)
c.2174T>G (p.Ile725Ser)
c.2312T>G (p.Ile771Ser)
c.2288T>G (p.Ile763Ser)
c.2270T>G (p.Ile757Ser)
c.2240T>G (p.Ile747Ser)
c.2198T>G (p.Ile733Ser)
c.2105T>G (p.Ile702Ser)
c.2117T>G (p.Ile706Ser)
c.2268+19680T>G (n.2268+19680T>G)
15g.27851474A>GCA391360275OCA2c.2246T>C (p.Ile749Thr)
c.2174T>C (p.Ile725Thr)
c.2312T>C (p.Ile771Thr)
c.2288T>C (p.Ile763Thr)
c.2270T>C (p.Ile757Thr)
c.2240T>C (p.Ile747Thr)
c.2198T>C (p.Ile733Thr)
c.2105T>C (p.Ile702Thr)
c.2117T>C (p.Ile706Thr)
c.2268+19680T>C (n.2268+19680T>C)
15g.27851474A>TCA391360276OCA2c.2246T>A (p.Ile749Asn)
c.2174T>A (p.Ile725Asn)
c.2312T>A (p.Ile771Asn)
c.2288T>A (p.Ile763Asn)
c.2270T>A (p.Ile757Asn)
c.2240T>A (p.Ile747Asn)
c.2198T>A (p.Ile733Asn)
c.2105T>A (p.Ile702Asn)
c.2117T>A (p.Ile706Asn)
c.2268+19680T>A (n.2268+19680T>A)
15g.27851475T>ACA391360278OCA2c.2245A>T (p.Ile749Phe)
c.2173A>T (p.Ile725Phe)
c.2311A>T (p.Ile771Phe)
c.2287A>T (p.Ile763Phe)
c.2269A>T (p.Ile757Phe)
c.2239A>T (p.Ile747Phe)
c.2197A>T (p.Ile733Phe)
c.2104A>T (p.Ile702Phe)
c.2116A>T (p.Ile706Phe)
c.2268+19679A>T (n.2268+19679A>T)
15g.27851475T>CCA391360280OCA2c.2245A>G (p.Ile749Val)
c.2173A>G (p.Ile725Val)
c.2311A>G (p.Ile771Val)
c.2287A>G (p.Ile763Val)
c.2269A>G (p.Ile757Val)
c.2239A>G (p.Ile747Val)
c.2197A>G (p.Ile733Val)
c.2104A>G (p.Ile702Val)
c.2116A>G (p.Ile706Val)
c.2268+19679A>G (n.2268+19679A>G)
15g.27851475T>GCA391360281OCA2c.2245A>C (p.Ile749Leu)
c.2173A>C (p.Ile725Leu)
c.2311A>C (p.Ile771Leu)
c.2287A>C (p.Ile763Leu)
c.2269A>C (p.Ile757Leu)
c.2239A>C (p.Ile747Leu)
c.2197A>C (p.Ile733Leu)
c.2104A>C (p.Ile702Leu)
c.2116A>C (p.Ile706Leu)
c.2268+19679A>C (n.2268+19679A>C)
15g.27851476C>ACA391360285OCA2c.2245-1G>T (n.2245-1G>T)
c.2173-1G>T (n.2173-1G>T)
c.2311-1G>T (n.2311-1G>T)
c.2287-1G>T (n.2287-1G>T)
c.2269-1G>T (n.2269-1G>T)
c.2239-1G>T (n.2239-1G>T)
c.2197-1G>T (n.2197-1G>T)
c.2104-1G>T (n.2104-1G>T)
c.2116-1G>T (n.2116-1G>T)
c.2268+19678G>T (n.2268+19678G>T)
dbSNP gnomAD v2 gnomAD v4 COSMIC
15g.27851476C=CA2166352040OCA2c.2245-1G= (n.2245-1G=)
c.2173-1G= (n.2173-1G=)
c.2311-1G= (n.2311-1G=)
c.2287-1G= (n.2287-1G=)
c.2269-1G= (n.2269-1G=)
c.2239-1G= (n.2239-1G=)
c.2197-1G= (n.2197-1G=)
c.2104-1G= (n.2104-1G=)
c.2116-1G= (n.2116-1G=)
c.2268+19678G= (n.2268+19678G=)
15g.27851476C>GCA391360287OCA2c.2245-1G>C (n.2245-1G>C)
c.2173-1G>C (n.2173-1G>C)
c.2311-1G>C (n.2311-1G>C)
c.2287-1G>C (n.2287-1G>C)
c.2269-1G>C (n.2269-1G>C)
c.2239-1G>C (n.2239-1G>C)
c.2197-1G>C (n.2197-1G>C)
c.2104-1G>C (n.2104-1G>C)
c.2116-1G>C (n.2116-1G>C)
c.2268+19678G>C (n.2268+19678G>C)
15g.27851476C>TCA391360283OCA2c.2245-1G>A (n.2245-1G>A)
c.2173-1G>A (n.2173-1G>A)
c.2311-1G>A (n.2311-1G>A)
c.2287-1G>A (n.2287-1G>A)
c.2269-1G>A (n.2269-1G>A)
c.2239-1G>A (n.2239-1G>A)
c.2197-1G>A (n.2197-1G>A)
c.2104-1G>A (n.2104-1G>A)
c.2116-1G>A (n.2116-1G>A)
c.2268+19678G>A (n.2268+19678G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.27851476_27851478delinsCTGCA2166352041OCA2c.2245-3_2245-1delinsCAG (n.2245-3_2245-1delinsCAG)
c.2173-3_2173-1delinsCAG (n.2173-3_2173-1delinsCAG)
c.2311-3_2311-1delinsCAG (n.2311-3_2311-1delinsCAG)
c.2287-3_2287-1delinsCAG (n.2287-3_2287-1delinsCAG)
c.2269-3_2269-1delinsCAG (n.2269-3_2269-1delinsCAG)
c.2239-3_2239-1delinsCAG (n.2239-3_2239-1delinsCAG)
c.2197-3_2197-1delinsCAG (n.2197-3_2197-1delinsCAG)
c.2104-3_2104-1delinsCAG (n.2104-3_2104-1delinsCAG)
c.2116-3_2116-1delinsCAG (n.2116-3_2116-1delinsCAG)
c.2268+19676_2268+19678delinsCAG (n.2268+19676_2268+19678delinsCAG)
15g.27851477T>ACA391360289OCA2c.2245-2A>T (n.2245-2A>T)
c.2173-2A>T (n.2173-2A>T)
c.2311-2A>T (n.2311-2A>T)
c.2287-2A>T (n.2287-2A>T)
c.2269-2A>T (n.2269-2A>T)
c.2239-2A>T (n.2239-2A>T)
c.2197-2A>T (n.2197-2A>T)
c.2104-2A>T (n.2104-2A>T)
c.2116-2A>T (n.2116-2A>T)
c.2268+19677A>T (n.2268+19677A>T)
15g.27851477T>CCA391360291OCA2c.2245-2A>G (n.2245-2A>G)
c.2173-2A>G (n.2173-2A>G)
c.2311-2A>G (n.2311-2A>G)
c.2287-2A>G (n.2287-2A>G)
c.2269-2A>G (n.2269-2A>G)
c.2239-2A>G (n.2239-2A>G)
c.2197-2A>G (n.2197-2A>G)
c.2104-2A>G (n.2104-2A>G)
c.2116-2A>G (n.2116-2A>G)
c.2268+19677A>G (n.2268+19677A>G)
dbSNP gnomAD v2 gnomAD v4 COSMIC
15g.27851477T>GCA391360293OCA2c.2245-2A>C (n.2245-2A>C)
c.2173-2A>C (n.2173-2A>C)
c.2311-2A>C (n.2311-2A>C)
c.2287-2A>C (n.2287-2A>C)
c.2269-2A>C (n.2269-2A>C)
c.2239-2A>C (n.2239-2A>C)
c.2197-2A>C (n.2197-2A>C)
c.2104-2A>C (n.2104-2A>C)
c.2116-2A>C (n.2116-2A>C)
c.2268+19677A>C (n.2268+19677A>C)
15g.27851477T=CA2166352043OCA2c.2245-2A= (n.2245-2A=)
c.2173-2A= (n.2173-2A=)
c.2311-2A= (n.2311-2A=)
c.2287-2A= (n.2287-2A=)
c.2269-2A= (n.2269-2A=)
c.2239-2A= (n.2239-2A=)
c.2197-2A= (n.2197-2A=)
c.2104-2A= (n.2104-2A=)
c.2116-2A= (n.2116-2A=)
c.2268+19677A= (n.2268+19677A=)
15g.27851479_27851480delCA2166352042OCA2c.2245-3_2245-2del (n.2245-3_2245-2del)
c.2173-3_2173-2del (n.2173-3_2173-2del)
c.2311-3_2311-2del (n.2311-3_2311-2del)
c.2287-3_2287-2del (n.2287-3_2287-2del)
c.2269-3_2269-2del (n.2269-3_2269-2del)
c.2239-3_2239-2del (n.2239-3_2239-2del)
c.2197-3_2197-2del (n.2197-3_2197-2del)
c.2104-3_2104-2del (n.2104-3_2104-2del)
c.2116-3_2116-2del (n.2116-3_2116-2del)
c.2268+19676_2268+19677del (n.2268+19676_2268+19677del)
dbSNP
15g.27851478G>ACA2627378318OCA2c.2245-3C>T (n.2245-3C>T)
c.2173-3C>T (n.2173-3C>T)
c.2311-3C>T (n.2311-3C>T)
c.2287-3C>T (n.2287-3C>T)
c.2269-3C>T (n.2269-3C>T)
c.2239-3C>T (n.2239-3C>T)
c.2197-3C>T (n.2197-3C>T)
c.2104-3C>T (n.2104-3C>T)
c.2116-3C>T (n.2116-3C>T)
c.2268+19676C>T (n.2268+19676C>T)
gnomAD v4
15g.27851478G>CCA2627378320OCA2c.2245-3C>G (n.2245-3C>G)
c.2173-3C>G (n.2173-3C>G)
c.2311-3C>G (n.2311-3C>G)
c.2287-3C>G (n.2287-3C>G)
c.2269-3C>G (n.2269-3C>G)
c.2239-3C>G (n.2239-3C>G)
c.2197-3C>G (n.2197-3C>G)
c.2104-3C>G (n.2104-3C>G)
c.2116-3C>G (n.2116-3C>G)
c.2268+19676C>G (n.2268+19676C>G)
gnomAD v4
15g.27851480G>ACA2627378321OCA2c.2245-5C>T (n.2245-5C>T)
c.2173-5C>T (n.2173-5C>T)
c.2311-5C>T (n.2311-5C>T)
c.2287-5C>T (n.2287-5C>T)
c.2269-5C>T (n.2269-5C>T)
c.2239-5C>T (n.2239-5C>T)
c.2197-5C>T (n.2197-5C>T)
c.2104-5C>T (n.2104-5C>T)
c.2116-5C>T (n.2116-5C>T)
c.2268+19674C>T (n.2268+19674C>T)
gnomAD v4
15g.27851481G>ACA7438669OCA2c.2245-6C>T (n.2245-6C>T)
c.2173-6C>T (n.2173-6C>T)
c.2311-6C>T (n.2311-6C>T)
c.2287-6C>T (n.2287-6C>T)
c.2269-6C>T (n.2269-6C>T)
c.2239-6C>T (n.2239-6C>T)
c.2197-6C>T (n.2197-6C>T)
c.2104-6C>T (n.2104-6C>T)
c.2116-6C>T (n.2116-6C>T)
c.2268+19673C>T (n.2268+19673C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851481G>CCA7438670OCA2c.2245-6C>G (n.2245-6C>G)
c.2173-6C>G (n.2173-6C>G)
c.2311-6C>G (n.2311-6C>G)
c.2287-6C>G (n.2287-6C>G)
c.2269-6C>G (n.2269-6C>G)
c.2239-6C>G (n.2239-6C>G)
c.2197-6C>G (n.2197-6C>G)
c.2104-6C>G (n.2104-6C>G)
c.2116-6C>G (n.2116-6C>G)
c.2268+19673C>G (n.2268+19673C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851481G=CA2166352044OCA2c.2245-6C= (n.2245-6C=)
c.2173-6C= (n.2173-6C=)
c.2311-6C= (n.2311-6C=)
c.2287-6C= (n.2287-6C=)
c.2269-6C= (n.2269-6C=)
c.2239-6C= (n.2239-6C=)
c.2197-6C= (n.2197-6C=)
c.2104-6C= (n.2104-6C=)
c.2116-6C= (n.2116-6C=)
c.2268+19673C= (n.2268+19673C=)
15g.27851481G>TCA7438668OCA2c.2245-6C>A (n.2245-6C>A)
c.2173-6C>A (n.2173-6C>A)
c.2311-6C>A (n.2311-6C>A)
c.2287-6C>A (n.2287-6C>A)
c.2269-6C>A (n.2269-6C>A)
c.2239-6C>A (n.2239-6C>A)
c.2197-6C>A (n.2197-6C>A)
c.2104-6C>A (n.2104-6C>A)
c.2116-6C>A (n.2116-6C>A)
c.2268+19673C>A (n.2268+19673C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851483G>ACA2627378336OCA2c.2245-8C>T (n.2245-8C>T)
c.2173-8C>T (n.2173-8C>T)
c.2311-8C>T (n.2311-8C>T)
c.2287-8C>T (n.2287-8C>T)
c.2269-8C>T (n.2269-8C>T)
c.2239-8C>T (n.2239-8C>T)
c.2197-8C>T (n.2197-8C>T)
c.2104-8C>T (n.2104-8C>T)
c.2116-8C>T (n.2116-8C>T)
c.2268+19671C>T (n.2268+19671C>T)
gnomAD v4
15g.27851483G>CCA7438671OCA2c.2245-8C>G (n.2245-8C>G)
c.2173-8C>G (n.2173-8C>G)
c.2311-8C>G (n.2311-8C>G)
c.2287-8C>G (n.2287-8C>G)
c.2269-8C>G (n.2269-8C>G)
c.2239-8C>G (n.2239-8C>G)
c.2197-8C>G (n.2197-8C>G)
c.2104-8C>G (n.2104-8C>G)
c.2116-8C>G (n.2116-8C>G)
c.2268+19671C>G (n.2268+19671C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27851483G=CA2166352045OCA2c.2245-8C= (n.2245-8C=)
c.2173-8C= (n.2173-8C=)
c.2311-8C= (n.2311-8C=)
c.2287-8C= (n.2287-8C=)
c.2269-8C= (n.2269-8C=)
c.2239-8C= (n.2239-8C=)
c.2197-8C= (n.2197-8C=)
c.2104-8C= (n.2104-8C=)
c.2116-8C= (n.2116-8C=)
c.2268+19671C= (n.2268+19671C=)
15g.27851486A=CA2166352046OCA2c.2245-11T= (n.2245-11T=)
c.2173-11T= (n.2173-11T=)
c.2311-11T= (n.2311-11T=)
c.2287-11T= (n.2287-11T=)
c.2269-11T= (n.2269-11T=)
c.2239-11T= (n.2239-11T=)
c.2197-11T= (n.2197-11T=)
c.2104-11T= (n.2104-11T=)
c.2116-11T= (n.2116-11T=)
c.2268+19668T= (n.2268+19668T=)
15g.27851486A>CCA2695219755OCA2c.2245-11T>G (n.2245-11T>G)
c.2173-11T>G (n.2173-11T>G)
c.2311-11T>G (n.2311-11T>G)
c.2287-11T>G (n.2287-11T>G)
c.2269-11T>G (n.2269-11T>G)
c.2239-11T>G (n.2239-11T>G)
c.2197-11T>G (n.2197-11T>G)
c.2104-11T>G (n.2104-11T>G)
c.2116-11T>G (n.2116-11T>G)
c.2268+19668T>G (n.2268+19668T>G)
15g.27851486A>GCA711710327OCA2c.2245-11T>C (n.2245-11T>C)
c.2173-11T>C (n.2173-11T>C)
c.2311-11T>C (n.2311-11T>C)
c.2287-11T>C (n.2287-11T>C)
c.2269-11T>C (n.2269-11T>C)
c.2239-11T>C (n.2239-11T>C)
c.2197-11T>C (n.2197-11T>C)
c.2104-11T>C (n.2104-11T>C)
c.2116-11T>C (n.2116-11T>C)
c.2268+19668T>C (n.2268+19668T>C)
ClinVar dbSNP
15g.27851487G>ACA7438672OCA2c.2245-12C>T (n.2245-12C>T)
c.2173-12C>T (n.2173-12C>T)
c.2311-12C>T (n.2311-12C>T)
c.2287-12C>T (n.2287-12C>T)
c.2269-12C>T (n.2269-12C>T)
c.2239-12C>T (n.2239-12C>T)
c.2197-12C>T (n.2197-12C>T)
c.2104-12C>T (n.2104-12C>T)
c.2116-12C>T (n.2116-12C>T)
c.2268+19667C>T (n.2268+19667C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851487G>CCA7438673OCA2c.2245-12C>G (n.2245-12C>G)
c.2173-12C>G (n.2173-12C>G)
c.2311-12C>G (n.2311-12C>G)
c.2287-12C>G (n.2287-12C>G)
c.2269-12C>G (n.2269-12C>G)
c.2239-12C>G (n.2239-12C>G)
c.2197-12C>G (n.2197-12C>G)
c.2104-12C>G (n.2104-12C>G)
c.2116-12C>G (n.2116-12C>G)
c.2268+19667C>G (n.2268+19667C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.27851487G=CA2166352047OCA2c.2245-12C= (n.2245-12C=)
c.2173-12C= (n.2173-12C=)
c.2311-12C= (n.2311-12C=)
c.2287-12C= (n.2287-12C=)
c.2269-12C= (n.2269-12C=)
c.2239-12C= (n.2239-12C=)
c.2197-12C= (n.2197-12C=)
c.2104-12C= (n.2104-12C=)
c.2116-12C= (n.2116-12C=)
c.2268+19667C= (n.2268+19667C=)
15g.27851487G>TCA2627378343OCA2c.2245-12C>A (n.2245-12C>A)
c.2173-12C>A (n.2173-12C>A)
c.2311-12C>A (n.2311-12C>A)
c.2287-12C>A (n.2287-12C>A)
c.2269-12C>A (n.2269-12C>A)
c.2239-12C>A (n.2239-12C>A)
c.2197-12C>A (n.2197-12C>A)
c.2104-12C>A (n.2104-12C>A)
c.2116-12C>A (n.2116-12C>A)
c.2268+19667C>A (n.2268+19667C>A)
ClinVar gnomAD v4
15g.27851488A>CCA2803490120OCA2c.2245-13T>G (n.2245-13T>G)
c.2173-13T>G (n.2173-13T>G)
c.2311-13T>G (n.2311-13T>G)
c.2287-13T>G (n.2287-13T>G)
c.2269-13T>G (n.2269-13T>G)
c.2239-13T>G (n.2239-13T>G)
c.2197-13T>G (n.2197-13T>G)
c.2104-13T>G (n.2104-13T>G)
c.2116-13T>G (n.2116-13T>G)
c.2268+19666T>G (n.2268+19666T>G)
15g.27851489G>ACA2627378348OCA2c.2245-14C>T (n.2245-14C>T)
c.2173-14C>T (n.2173-14C>T)
c.2311-14C>T (n.2311-14C>T)
c.2287-14C>T (n.2287-14C>T)
c.2269-14C>T (n.2269-14C>T)
c.2239-14C>T (n.2239-14C>T)
c.2197-14C>T (n.2197-14C>T)
c.2104-14C>T (n.2104-14C>T)
c.2116-14C>T (n.2116-14C>T)
c.2268+19665C>T (n.2268+19665C>T)
gnomAD v4
15g.27851489G>TCA2627378350OCA2c.2245-14C>A (n.2245-14C>A)
c.2173-14C>A (n.2173-14C>A)
c.2311-14C>A (n.2311-14C>A)
c.2287-14C>A (n.2287-14C>A)
c.2269-14C>A (n.2269-14C>A)
c.2239-14C>A (n.2239-14C>A)
c.2197-14C>A (n.2197-14C>A)
c.2104-14C>A (n.2104-14C>A)
c.2116-14C>A (n.2116-14C>A)
c.2268+19665C>A (n.2268+19665C>A)
gnomAD v4

Number of alleles fetched