Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.27844947A>GCA2627378178OCA2c.2432+12T>C (n.2432+12T>C)
c.2360+12T>C (n.2360+12T>C)
c.2498+12T>C (n.2498+12T>C)
c.2474+12T>C (n.2474+12T>C)
c.2456+12T>C (n.2456+12T>C)
c.2426+12T>C (n.2426+12T>C)
c.2384+12T>C (n.2384+12T>C)
c.2291+12T>C (n.2291+12T>C)
c.2303+12T>C (n.2303+12T>C)
c.2268+26207T>C (n.2268+26207T>C)
 gnomAD v4
15g.27844948T>CCA7438574OCA2c.2432+11A>G (n.2432+11A>G)
c.2360+11A>G (n.2360+11A>G)
c.2498+11A>G (n.2498+11A>G)
c.2474+11A>G (n.2474+11A>G)
c.2456+11A>G (n.2456+11A>G)
c.2426+11A>G (n.2426+11A>G)
c.2384+11A>G (n.2384+11A>G)
c.2291+11A>G (n.2291+11A>G)
c.2303+11A>G (n.2303+11A>G)
c.2268+26206A>G (n.2268+26206A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27844948T=CA2166336878OCA2c.2432+11A= (n.2432+11A=)
c.2360+11A= (n.2360+11A=)
c.2498+11A= (n.2498+11A=)
c.2474+11A= (n.2474+11A=)
c.2456+11A= (n.2456+11A=)
c.2426+11A= (n.2426+11A=)
c.2384+11A= (n.2384+11A=)
c.2291+11A= (n.2291+11A=)
c.2303+11A= (n.2303+11A=)
c.2268+26206A= (n.2268+26206A=)
15g.27844949T>ACA968016610OCA2c.2432+10A>T (n.2432+10A>T)
c.2360+10A>T (n.2360+10A>T)
c.2498+10A>T (n.2498+10A>T)
c.2474+10A>T (n.2474+10A>T)
c.2456+10A>T (n.2456+10A>T)
c.2426+10A>T (n.2426+10A>T)
c.2384+10A>T (n.2384+10A>T)
c.2291+10A>T (n.2291+10A>T)
c.2303+10A>T (n.2303+10A>T)
c.2268+26205A>T (n.2268+26205A>T)
 gnomAD v3 gnomAD v4
15g.27844950_27844951delinsTACA2166336882OCA2c.2432+8_2432+9delinsTA (n.2432+8_2432+9delinsTA)
c.2360+8_2360+9delinsTA (n.2360+8_2360+9delinsTA)
c.2498+8_2498+9delinsTA (n.2498+8_2498+9delinsTA)
c.2474+8_2474+9delinsTA (n.2474+8_2474+9delinsTA)
c.2456+8_2456+9delinsTA (n.2456+8_2456+9delinsTA)
c.2426+8_2426+9delinsTA (n.2426+8_2426+9delinsTA)
c.2384+8_2384+9delinsTA (n.2384+8_2384+9delinsTA)
c.2291+8_2291+9delinsTA (n.2291+8_2291+9delinsTA)
c.2303+8_2303+9delinsTA (n.2303+8_2303+9delinsTA)
c.2268+26203_2268+26204delinsTA (n.2268+26203_2268+26204delinsTA)
15g.27844951A=CA2166336890OCA2c.2432+8T= (n.2432+8T=)
c.2360+8T= (n.2360+8T=)
c.2498+8T= (n.2498+8T=)
c.2474+8T= (n.2474+8T=)
c.2456+8T= (n.2456+8T=)
c.2426+8T= (n.2426+8T=)
c.2384+8T= (n.2384+8T=)
c.2291+8T= (n.2291+8T=)
c.2303+8T= (n.2303+8T=)
c.2268+26203T= (n.2268+26203T=)
15g.27844951A>CCA616701034OCA2c.2432+8T>G (n.2432+8T>G)
c.2360+8T>G (n.2360+8T>G)
c.2498+8T>G (n.2498+8T>G)
c.2474+8T>G (n.2474+8T>G)
c.2456+8T>G (n.2456+8T>G)
c.2426+8T>G (n.2426+8T>G)
c.2384+8T>G (n.2384+8T>G)
c.2291+8T>G (n.2291+8T>G)
c.2303+8T>G (n.2303+8T>G)
c.2268+26203T>G (n.2268+26203T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.27844954delCA7438575OCA2c.2432+8del (n.2432+8del)
c.2360+8del (n.2360+8del)
c.2498+8del (n.2498+8del)
c.2474+8del (n.2474+8del)
c.2456+8del (n.2456+8del)
c.2426+8del (n.2426+8del)
c.2384+8del (n.2384+8del)
c.2291+8del (n.2291+8del)
c.2303+8del (n.2303+8del)
c.2268+26203del (n.2268+26203del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27844955G>CCA2627378187OCA2c.2432+4C>G (n.2432+4C>G)
c.2360+4C>G (n.2360+4C>G)
c.2498+4C>G (n.2498+4C>G)
c.2474+4C>G (n.2474+4C>G)
c.2456+4C>G (n.2456+4C>G)
c.2426+4C>G (n.2426+4C>G)
c.2384+4C>G (n.2384+4C>G)
c.2291+4C>G (n.2291+4C>G)
c.2303+4C>G (n.2303+4C>G)
c.2268+26199C>G (n.2268+26199C>G)
 gnomAD v4
15g.27844955G>TCA2627378189OCA2c.2432+4C>A (n.2432+4C>A)
c.2360+4C>A (n.2360+4C>A)
c.2498+4C>A (n.2498+4C>A)
c.2474+4C>A (n.2474+4C>A)
c.2456+4C>A (n.2456+4C>A)
c.2426+4C>A (n.2426+4C>A)
c.2384+4C>A (n.2384+4C>A)
c.2291+4C>A (n.2291+4C>A)
c.2303+4C>A (n.2303+4C>A)
c.2268+26199C>A (n.2268+26199C>A)
 gnomAD v4
15g.27844956T>CCA2554799326OCA2c.2432+3A>G (n.2432+3A>G)
c.2360+3A>G (n.2360+3A>G)
c.2498+3A>G (n.2498+3A>G)
c.2474+3A>G (n.2474+3A>G)
c.2456+3A>G (n.2456+3A>G)
c.2426+3A>G (n.2426+3A>G)
c.2384+3A>G (n.2384+3A>G)
c.2291+3A>G (n.2291+3A>G)
c.2303+3A>G (n.2303+3A>G)
c.2268+26198A>G (n.2268+26198A>G)
 gnomAD v4
15g.27844957A>CCA391358198OCA2c.2432+2T>G (n.2432+2T>G)
c.2360+2T>G (n.2360+2T>G)
c.2498+2T>G (n.2498+2T>G)
c.2474+2T>G (n.2474+2T>G)
c.2456+2T>G (n.2456+2T>G)
c.2426+2T>G (n.2426+2T>G)
c.2384+2T>G (n.2384+2T>G)
c.2291+2T>G (n.2291+2T>G)
c.2303+2T>G (n.2303+2T>G)
c.2268+26197T>G (n.2268+26197T>G)
15g.27844957A>GCA391358200OCA2c.2432+2T>C (n.2432+2T>C)
c.2360+2T>C (n.2360+2T>C)
c.2498+2T>C (n.2498+2T>C)
c.2474+2T>C (n.2474+2T>C)
c.2456+2T>C (n.2456+2T>C)
c.2426+2T>C (n.2426+2T>C)
c.2384+2T>C (n.2384+2T>C)
c.2291+2T>C (n.2291+2T>C)
c.2303+2T>C (n.2303+2T>C)
c.2268+26197T>C (n.2268+26197T>C)
15g.27844957A>TCA391358201OCA2c.2432+2T>A (n.2432+2T>A)
c.2360+2T>A (n.2360+2T>A)
c.2498+2T>A (n.2498+2T>A)
c.2474+2T>A (n.2474+2T>A)
c.2456+2T>A (n.2456+2T>A)
c.2426+2T>A (n.2426+2T>A)
c.2384+2T>A (n.2384+2T>A)
c.2291+2T>A (n.2291+2T>A)
c.2303+2T>A (n.2303+2T>A)
c.2268+26197T>A (n.2268+26197T>A)
15g.27844958C>ACA391358202OCA2c.2432+1G>T (n.2432+1G>T)
c.2360+1G>T (n.2360+1G>T)
c.2498+1G>T (n.2498+1G>T)
c.2474+1G>T (n.2474+1G>T)
c.2456+1G>T (n.2456+1G>T)
c.2426+1G>T (n.2426+1G>T)
c.2384+1G>T (n.2384+1G>T)
c.2291+1G>T (n.2291+1G>T)
c.2303+1G>T (n.2303+1G>T)
c.2268+26196G>T (n.2268+26196G>T)
15g.27844958C=CA2166336895OCA2c.2432+1G= (n.2432+1G=)
c.2360+1G= (n.2360+1G=)
c.2498+1G= (n.2498+1G=)
c.2474+1G= (n.2474+1G=)
c.2456+1G= (n.2456+1G=)
c.2426+1G= (n.2426+1G=)
c.2384+1G= (n.2384+1G=)
c.2291+1G= (n.2291+1G=)
c.2303+1G= (n.2303+1G=)
c.2268+26196G= (n.2268+26196G=)
15g.27844958C>GCA391358204OCA2c.2432+1G>C (n.2432+1G>C)
c.2360+1G>C (n.2360+1G>C)
c.2498+1G>C (n.2498+1G>C)
c.2474+1G>C (n.2474+1G>C)
c.2456+1G>C (n.2456+1G>C)
c.2426+1G>C (n.2426+1G>C)
c.2384+1G>C (n.2384+1G>C)
c.2291+1G>C (n.2291+1G>C)
c.2303+1G>C (n.2303+1G>C)
c.2268+26196G>C (n.2268+26196G>C)
15g.27844958C>TCA391358205OCA2c.2432+1G>A (n.2432+1G>A)
c.2360+1G>A (n.2360+1G>A)
c.2498+1G>A (n.2498+1G>A)
c.2474+1G>A (n.2474+1G>A)
c.2456+1G>A (n.2456+1G>A)
c.2426+1G>A (n.2426+1G>A)
c.2384+1G>A (n.2384+1G>A)
c.2291+1G>A (n.2291+1G>A)
c.2303+1G>A (n.2303+1G>A)
c.2268+26196G>A (n.2268+26196G>A)
 ClinVar dbSNP
15g.27844959C>ACA391358208OCA2c.2432G>T (p.Arg811Met)
c.2360G>T (p.Arg787Met)
c.2498G>T (p.Arg833Met)
c.2474G>T (p.Arg825Met)
c.2456G>T (p.Arg819Met)
c.2426G>T (p.Arg809Met)
c.2384G>T (p.Arg795Met)
c.2291G>T (p.Arg764Met)
c.2303G>T (p.Arg768Met)
c.2268+26195G>T (n.2268+26195G>T)
15g.27844959C=CA2166336899OCA2c.2432G= (p.Arg811=)
c.2360G= (p.Arg787=)
c.2498G= (p.Arg833=)
c.2474G= (p.Arg825=)
c.2456G= (p.Arg819=)
c.2426G= (p.Arg809=)
c.2384G= (p.Arg795=)
c.2291G= (p.Arg764=)
c.2303G= (p.Arg768=)
c.2268+26195G= (n.2268+26195G=)
15g.27844959C>GCA391358206OCA2c.2432G>C (p.Arg811Thr)
c.2360G>C (p.Arg787Thr)
c.2498G>C (p.Arg833Thr)
c.2474G>C (p.Arg825Thr)
c.2456G>C (p.Arg819Thr)
c.2426G>C (p.Arg809Thr)
c.2384G>C (p.Arg795Thr)
c.2291G>C (p.Arg764Thr)
c.2303G>C (p.Arg768Thr)
c.2268+26195G>C (n.2268+26195G>C)
15g.27844959C>TCA7438576OCA2c.2432G>A (p.Arg811Lys)
c.2360G>A (p.Arg787Lys)
c.2498G>A (p.Arg833Lys)
c.2474G>A (p.Arg825Lys)
c.2456G>A (p.Arg819Lys)
c.2426G>A (p.Arg809Lys)
c.2384G>A (p.Arg795Lys)
c.2291G>A (p.Arg764Lys)
c.2303G>A (p.Arg768Lys)
c.2268+26195G>A (n.2268+26195G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.27844960T>ACA391358211OCA2c.2431A>T (p.Arg811Trp)
c.2359A>T (p.Arg787Trp)
c.2497A>T (p.Arg833Trp)
c.2473A>T (p.Arg825Trp)
c.2455A>T (p.Arg819Trp)
c.2425A>T (p.Arg809Trp)
c.2383A>T (p.Arg795Trp)
c.2290A>T (p.Arg764Trp)
c.2302A>T (p.Arg768Trp)
c.2268+26194A>T (n.2268+26194A>T)
15g.27844960T>CCA391358213OCA2c.2431A>G (p.Arg811Gly)
c.2359A>G (p.Arg787Gly)
c.2497A>G (p.Arg833Gly)
c.2473A>G (p.Arg825Gly)
c.2455A>G (p.Arg819Gly)
c.2425A>G (p.Arg809Gly)
c.2383A>G (p.Arg795Gly)
c.2290A>G (p.Arg764Gly)
c.2302A>G (p.Arg768Gly)
c.2268+26194A>G (n.2268+26194A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.27844960T>GCA488958576OCA2c.2431A>C (p.Arg811=)
c.2359A>C (p.Arg787=)
c.2497A>C (p.Arg833=)
c.2473A>C (p.Arg825=)
c.2455A>C (p.Arg819=)
c.2425A>C (p.Arg809=)
c.2383A>C (p.Arg795=)
c.2290A>C (p.Arg764=)
c.2302A>C (p.Arg768=)
c.2268+26194A>C (n.2268+26194A>C)
15g.27844960T=CA2166336901OCA2c.2431A= (p.Arg811=)
c.2359A= (p.Arg787=)
c.2497A= (p.Arg833=)
c.2473A= (p.Arg825=)
c.2455A= (p.Arg819=)
c.2425A= (p.Arg809=)
c.2383A= (p.Arg795=)
c.2290A= (p.Arg764=)
c.2302A= (p.Arg768=)
c.2268+26194A= (n.2268+26194A=)
15g.27844961G>ACA7438577OCA2c.2430C>T (p.Phe810=)
c.2358C>T (p.Phe786=)
c.2496C>T (p.Phe832=)
c.2472C>T (p.Phe824=)
c.2454C>T (p.Phe818=)
c.2424C>T (p.Phe808=)
c.2382C>T (p.Phe794=)
c.2289C>T (p.Phe763=)
c.2301C>T (p.Phe767=)
c.2268+26193C>T (n.2268+26193C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27844961G>CCA391358215OCA2c.2430C>G (p.Phe810Leu)
c.2358C>G (p.Phe786Leu)
c.2496C>G (p.Phe832Leu)
c.2472C>G (p.Phe824Leu)
c.2454C>G (p.Phe818Leu)
c.2424C>G (p.Phe808Leu)
c.2382C>G (p.Phe794Leu)
c.2289C>G (p.Phe763Leu)
c.2301C>G (p.Phe767Leu)
c.2268+26193C>G (n.2268+26193C>G)
15g.27844961G=CA2166336904OCA2c.2430C= (p.Phe810=)
c.2358C= (p.Phe786=)
c.2496C= (p.Phe832=)
c.2472C= (p.Phe824=)
c.2454C= (p.Phe818=)
c.2424C= (p.Phe808=)
c.2382C= (p.Phe794=)
c.2289C= (p.Phe763=)
c.2301C= (p.Phe767=)
c.2268+26193C= (n.2268+26193C=)
15g.27844961G>TCA391358217OCA2c.2430C>A (p.Phe810Leu)
c.2358C>A (p.Phe786Leu)
c.2496C>A (p.Phe832Leu)
c.2472C>A (p.Phe824Leu)
c.2454C>A (p.Phe818Leu)
c.2424C>A (p.Phe808Leu)
c.2382C>A (p.Phe794Leu)
c.2289C>A (p.Phe763Leu)
c.2301C>A (p.Phe767Leu)
c.2268+26193C>A (n.2268+26193C>A)
15g.27844962A>CCA391358219OCA2c.2429T>G (p.Phe810Cys)
c.2357T>G (p.Phe786Cys)
c.2495T>G (p.Phe832Cys)
c.2471T>G (p.Phe824Cys)
c.2453T>G (p.Phe818Cys)
c.2423T>G (p.Phe808Cys)
c.2381T>G (p.Phe794Cys)
c.2288T>G (p.Phe763Cys)
c.2300T>G (p.Phe767Cys)
c.2268+26192T>G (n.2268+26192T>G)
15g.27844962A>GCA391358228OCA2c.2429T>C (p.Phe810Ser)
c.2357T>C (p.Phe786Ser)
c.2495T>C (p.Phe832Ser)
c.2471T>C (p.Phe824Ser)
c.2453T>C (p.Phe818Ser)
c.2423T>C (p.Phe808Ser)
c.2381T>C (p.Phe794Ser)
c.2288T>C (p.Phe763Ser)
c.2300T>C (p.Phe767Ser)
c.2268+26192T>C (n.2268+26192T>C)
15g.27844962A>TCA391358222OCA2c.2429T>A (p.Phe810Tyr)
c.2357T>A (p.Phe786Tyr)
c.2495T>A (p.Phe832Tyr)
c.2471T>A (p.Phe824Tyr)
c.2453T>A (p.Phe818Tyr)
c.2423T>A (p.Phe808Tyr)
c.2381T>A (p.Phe794Tyr)
c.2288T>A (p.Phe763Tyr)
c.2300T>A (p.Phe767Tyr)
c.2268+26192T>A (n.2268+26192T>A)
15g.27844966delCA488958577OCA2c.2429del (p.Phe810SerfsTer7)
c.2357del (p.Phe786SerfsTer7)
c.2495del (p.Phe832SerfsTer7)
c.2471del (p.Phe824SerfsTer7)
c.2453del (p.Phe818SerfsTer7)
c.2423del (p.Phe808SerfsTer7)
c.2381del (p.Phe794SerfsTer7)
c.2288del (p.Phe763SerfsTer7)
c.2453del (p.Phe818SerfsTer?)
c.2300del (p.Phe767SerfsTer7)
c.2268+26192del (n.2268+26192del)
c.2288del (p.Phe763SerfsTer?)
 COSMIC
15g.27844963A>CCA391358232OCA2c.2428T>G (p.Phe810Val)
c.2356T>G (p.Phe786Val)
c.2494T>G (p.Phe832Val)
c.2470T>G (p.Phe824Val)
c.2452T>G (p.Phe818Val)
c.2422T>G (p.Phe808Val)
c.2380T>G (p.Phe794Val)
c.2287T>G (p.Phe763Val)
c.2299T>G (p.Phe767Val)
c.2268+26191T>G (n.2268+26191T>G)
15g.27844963A>GCA391358234OCA2c.2428T>C (p.Phe810Leu)
c.2356T>C (p.Phe786Leu)
c.2494T>C (p.Phe832Leu)
c.2470T>C (p.Phe824Leu)
c.2452T>C (p.Phe818Leu)
c.2422T>C (p.Phe808Leu)
c.2380T>C (p.Phe794Leu)
c.2287T>C (p.Phe763Leu)
c.2299T>C (p.Phe767Leu)
c.2268+26191T>C (n.2268+26191T>C)
15g.27844963A>TCA391358236OCA2c.2428T>A (p.Phe810Ile)
c.2356T>A (p.Phe786Ile)
c.2494T>A (p.Phe832Ile)
c.2470T>A (p.Phe824Ile)
c.2452T>A (p.Phe818Ile)
c.2422T>A (p.Phe808Ile)
c.2380T>A (p.Phe794Ile)
c.2287T>A (p.Phe763Ile)
c.2299T>A (p.Phe767Ile)
c.2268+26191T>A (n.2268+26191T>A)
15g.27844964A>CCA391358238OCA2c.2427T>G (p.Phe809Leu)
c.2355T>G (p.Phe785Leu)
c.2493T>G (p.Phe831Leu)
c.2469T>G (p.Phe823Leu)
c.2451T>G (p.Phe817Leu)
c.2421T>G (p.Phe807Leu)
c.2379T>G (p.Phe793Leu)
c.2286T>G (p.Phe762Leu)
c.2298T>G (p.Phe766Leu)
c.2268+26190T>G (n.2268+26190T>G)
15g.27844964A>GCA488958578OCA2c.2427T>C (p.Phe809=)
c.2355T>C (p.Phe785=)
c.2493T>C (p.Phe831=)
c.2469T>C (p.Phe823=)
c.2451T>C (p.Phe817=)
c.2421T>C (p.Phe807=)
c.2379T>C (p.Phe793=)
c.2286T>C (p.Phe762=)
c.2298T>C (p.Phe766=)
c.2268+26190T>C (n.2268+26190T>C)
15g.27844964A>TCA391358239OCA2c.2427T>A (p.Phe809Leu)
c.2355T>A (p.Phe785Leu)
c.2493T>A (p.Phe831Leu)
c.2469T>A (p.Phe823Leu)
c.2451T>A (p.Phe817Leu)
c.2421T>A (p.Phe807Leu)
c.2379T>A (p.Phe793Leu)
c.2286T>A (p.Phe762Leu)
c.2298T>A (p.Phe766Leu)
c.2268+26190T>A (n.2268+26190T>A)
15g.27844965A>CCA391358240OCA2c.2426T>G (p.Phe809Cys)
c.2354T>G (p.Phe785Cys)
c.2492T>G (p.Phe831Cys)
c.2468T>G (p.Phe823Cys)
c.2450T>G (p.Phe817Cys)
c.2420T>G (p.Phe807Cys)
c.2378T>G (p.Phe793Cys)
c.2285T>G (p.Phe762Cys)
c.2297T>G (p.Phe766Cys)
c.2268+26189T>G (n.2268+26189T>G)
15g.27844965A>GCA391358241OCA2c.2426T>C (p.Phe809Ser)
c.2354T>C (p.Phe785Ser)
c.2492T>C (p.Phe831Ser)
c.2468T>C (p.Phe823Ser)
c.2450T>C (p.Phe817Ser)
c.2420T>C (p.Phe807Ser)
c.2378T>C (p.Phe793Ser)
c.2285T>C (p.Phe762Ser)
c.2297T>C (p.Phe766Ser)
c.2268+26189T>C (n.2268+26189T>C)
15g.27844965A>TCA391358242OCA2c.2426T>A (p.Phe809Tyr)
c.2354T>A (p.Phe785Tyr)
c.2492T>A (p.Phe831Tyr)
c.2468T>A (p.Phe823Tyr)
c.2450T>A (p.Phe817Tyr)
c.2420T>A (p.Phe807Tyr)
c.2378T>A (p.Phe793Tyr)
c.2285T>A (p.Phe762Tyr)
c.2297T>A (p.Phe766Tyr)
c.2268+26189T>A (n.2268+26189T>A)
15g.27844966A=CA2166336911OCA2c.2425T= (p.Phe809=)
c.2353T= (p.Phe785=)
c.2491T= (p.Phe831=)
c.2467T= (p.Phe823=)
c.2449T= (p.Phe817=)
c.2419T= (p.Phe807=)
c.2377T= (p.Phe793=)
c.2284T= (p.Phe762=)
c.2296T= (p.Phe766=)
c.2268+26188T= (n.2268+26188T=)
15g.27844966A>CCA391358247OCA2c.2425T>G (p.Phe809Val)
c.2353T>G (p.Phe785Val)
c.2491T>G (p.Phe831Val)
c.2467T>G (p.Phe823Val)
c.2449T>G (p.Phe817Val)
c.2419T>G (p.Phe807Val)
c.2377T>G (p.Phe793Val)
c.2284T>G (p.Phe762Val)
c.2296T>G (p.Phe766Val)
c.2268+26188T>G (n.2268+26188T>G)
15g.27844966A>GCA16619913OCA2c.2425T>C (p.Phe809Leu)
c.2353T>C (p.Phe785Leu)
c.2491T>C (p.Phe831Leu)
c.2467T>C (p.Phe823Leu)
c.2449T>C (p.Phe817Leu)
c.2419T>C (p.Phe807Leu)
c.2377T>C (p.Phe793Leu)
c.2284T>C (p.Phe762Leu)
c.2296T>C (p.Phe766Leu)
c.2268+26188T>C (n.2268+26188T>C)
 ClinVar dbSNP
15g.27844966A>TCA242287OCA2c.2425T>A (p.Phe809Ile)
c.2353T>A (p.Phe785Ile)
c.2491T>A (p.Phe831Ile)
c.2467T>A (p.Phe823Ile)
c.2449T>A (p.Phe817Ile)
c.2419T>A (p.Phe807Ile)
c.2377T>A (p.Phe793Ile)
c.2284T>A (p.Phe762Ile)
c.2296T>A (p.Phe766Ile)
c.2268+26188T>A (n.2268+26188T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27844967T>ACA391358250OCA2c.2424A>T (p.Glu808Asp)
c.2352A>T (p.Glu784Asp)
c.2490A>T (p.Glu830Asp)
c.2466A>T (p.Glu822Asp)
c.2448A>T (p.Glu816Asp)
c.2418A>T (p.Glu806Asp)
c.2376A>T (p.Glu792Asp)
c.2283A>T (p.Glu761Asp)
c.2295A>T (p.Glu765Asp)
c.2268+26187A>T (n.2268+26187A>T)
15g.27844967T>CCA7438578OCA2c.2424A>G (p.Glu808=)
c.2352A>G (p.Glu784=)
c.2490A>G (p.Glu830=)
c.2466A>G (p.Glu822=)
c.2448A>G (p.Glu816=)
c.2418A>G (p.Glu806=)
c.2376A>G (p.Glu792=)
c.2283A>G (p.Glu761=)
c.2295A>G (p.Glu765=)
c.2268+26187A>G (n.2268+26187A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27844967T>GCA391358252OCA2c.2424A>C (p.Glu808Asp)
c.2352A>C (p.Glu784Asp)
c.2490A>C (p.Glu830Asp)
c.2466A>C (p.Glu822Asp)
c.2448A>C (p.Glu816Asp)
c.2418A>C (p.Glu806Asp)
c.2376A>C (p.Glu792Asp)
c.2283A>C (p.Glu761Asp)
c.2295A>C (p.Glu765Asp)
c.2268+26187A>C (n.2268+26187A>C)
15g.27844967T=CA2166336922OCA2c.2424A= (p.Glu808=)
c.2352A= (p.Glu784=)
c.2490A= (p.Glu830=)
c.2466A= (p.Glu822=)
c.2448A= (p.Glu816=)
c.2418A= (p.Glu806=)
c.2376A= (p.Glu792=)
c.2283A= (p.Glu761=)
c.2295A= (p.Glu765=)
c.2268+26187A= (n.2268+26187A=)
15g.27844968T>ACA391358253OCA2c.2423A>T (p.Glu808Val)
c.2351A>T (p.Glu784Val)
c.2489A>T (p.Glu830Val)
c.2465A>T (p.Glu822Val)
c.2447A>T (p.Glu816Val)
c.2417A>T (p.Glu806Val)
c.2375A>T (p.Glu792Val)
c.2282A>T (p.Glu761Val)
c.2294A>T (p.Glu765Val)
c.2268+26186A>T (n.2268+26186A>T)
15g.27844968T>CCA391358255OCA2c.2423A>G (p.Glu808Gly)
c.2351A>G (p.Glu784Gly)
c.2489A>G (p.Glu830Gly)
c.2465A>G (p.Glu822Gly)
c.2447A>G (p.Glu816Gly)
c.2417A>G (p.Glu806Gly)
c.2375A>G (p.Glu792Gly)
c.2282A>G (p.Glu761Gly)
c.2294A>G (p.Glu765Gly)
c.2268+26186A>G (n.2268+26186A>G)
15g.27844968T>GCA391358254OCA2c.2423A>C (p.Glu808Ala)
c.2351A>C (p.Glu784Ala)
c.2489A>C (p.Glu830Ala)
c.2465A>C (p.Glu822Ala)
c.2447A>C (p.Glu816Ala)
c.2417A>C (p.Glu806Ala)
c.2375A>C (p.Glu792Ala)
c.2282A>C (p.Glu761Ala)
c.2294A>C (p.Glu765Ala)
c.2268+26186A>C (n.2268+26186A>C)
15g.27844969C>ACA391358257OCA2c.2422G>T (p.Glu808Ter)
c.2350G>T (p.Glu784Ter)
c.2488G>T (p.Glu830Ter)
c.2464G>T (p.Glu822Ter)
c.2446G>T (p.Glu816Ter)
c.2416G>T (p.Glu806Ter)
c.2374G>T (p.Glu792Ter)
c.2281G>T (p.Glu761Ter)
c.2293G>T (p.Glu765Ter)
c.2268+26185G>T (n.2268+26185G>T)
 COSMIC
15g.27844969C>GCA391358258OCA2c.2422G>C (p.Glu808Gln)
c.2350G>C (p.Glu784Gln)
c.2488G>C (p.Glu830Gln)
c.2464G>C (p.Glu822Gln)
c.2446G>C (p.Glu816Gln)
c.2416G>C (p.Glu806Gln)
c.2374G>C (p.Glu792Gln)
c.2281G>C (p.Glu761Gln)
c.2293G>C (p.Glu765Gln)
c.2268+26185G>C (n.2268+26185G>C)
15g.27844969C>TCA391358261OCA2c.2422G>A (p.Glu808Lys)
c.2350G>A (p.Glu784Lys)
c.2488G>A (p.Glu830Lys)
c.2464G>A (p.Glu822Lys)
c.2446G>A (p.Glu816Lys)
c.2416G>A (p.Glu806Lys)
c.2374G>A (p.Glu792Lys)
c.2281G>A (p.Glu761Lys)
c.2293G>A (p.Glu765Lys)
c.2268+26185G>A (n.2268+26185G>A)
15g.27844970C>ACA391358264OCA2c.2421G>T (p.Met807Ile)
c.2349G>T (p.Met783Ile)
c.2487G>T (p.Met829Ile)
c.2463G>T (p.Met821Ile)
c.2445G>T (p.Met815Ile)
c.2415G>T (p.Met805Ile)
c.2373G>T (p.Met791Ile)
c.2280G>T (p.Met760Ile)
c.2292G>T (p.Met764Ile)
c.2268+26184G>T (n.2268+26184G>T)
15g.27844970C>GCA391358266OCA2c.2421G>C (p.Met807Ile)
c.2349G>C (p.Met783Ile)
c.2487G>C (p.Met829Ile)
c.2463G>C (p.Met821Ile)
c.2445G>C (p.Met815Ile)
c.2415G>C (p.Met805Ile)
c.2373G>C (p.Met791Ile)
c.2280G>C (p.Met760Ile)
c.2292G>C (p.Met764Ile)
c.2268+26184G>C (n.2268+26184G>C)
15g.27844970C>TCA391358267OCA2c.2421G>A (p.Met807Ile)
c.2349G>A (p.Met783Ile)
c.2487G>A (p.Met829Ile)
c.2463G>A (p.Met821Ile)
c.2445G>A (p.Met815Ile)
c.2415G>A (p.Met805Ile)
c.2373G>A (p.Met791Ile)
c.2280G>A (p.Met760Ile)
c.2292G>A (p.Met764Ile)
c.2268+26184G>A (n.2268+26184G>A)
15g.27844971A=CA2166336923OCA2c.2420T= (p.Met807=)
c.2348T= (p.Met783=)
c.2486T= (p.Met829=)
c.2462T= (p.Met821=)
c.2444T= (p.Met815=)
c.2414T= (p.Met805=)
c.2372T= (p.Met791=)
c.2279T= (p.Met760=)
c.2291T= (p.Met764=)
c.2268+26183T= (n.2268+26183T=)
15g.27844971A>CCA391358268OCA2c.2420T>G (p.Met807Arg)
c.2348T>G (p.Met783Arg)
c.2486T>G (p.Met829Arg)
c.2462T>G (p.Met821Arg)
c.2444T>G (p.Met815Arg)
c.2414T>G (p.Met805Arg)
c.2372T>G (p.Met791Arg)
c.2279T>G (p.Met760Arg)
c.2291T>G (p.Met764Arg)
c.2268+26183T>G (n.2268+26183T>G)
15g.27844971A>GCA391358271OCA2c.2420T>C (p.Met807Thr)
c.2348T>C (p.Met783Thr)
c.2486T>C (p.Met829Thr)
c.2462T>C (p.Met821Thr)
c.2444T>C (p.Met815Thr)
c.2414T>C (p.Met805Thr)
c.2372T>C (p.Met791Thr)
c.2279T>C (p.Met760Thr)
c.2291T>C (p.Met764Thr)
c.2268+26183T>C (n.2268+26183T>C)
 dbSNP gnomAD v2 gnomAD v4
15g.27844971A>TCA391358273OCA2c.2420T>A (p.Met807Lys)
c.2348T>A (p.Met783Lys)
c.2486T>A (p.Met829Lys)
c.2462T>A (p.Met821Lys)
c.2444T>A (p.Met815Lys)
c.2414T>A (p.Met805Lys)
c.2372T>A (p.Met791Lys)
c.2279T>A (p.Met760Lys)
c.2291T>A (p.Met764Lys)
c.2268+26183T>A (n.2268+26183T>A)
 dbSNP gnomAD v3 gnomAD v4
15g.27844972T>ACA391358275OCA2c.2419A>T (p.Met807Leu)
c.2347A>T (p.Met783Leu)
c.2485A>T (p.Met829Leu)
c.2461A>T (p.Met821Leu)
c.2443A>T (p.Met815Leu)
c.2413A>T (p.Met805Leu)
c.2371A>T (p.Met791Leu)
c.2278A>T (p.Met760Leu)
c.2290A>T (p.Met764Leu)
c.2268+26182A>T (n.2268+26182A>T)
15g.27844972T>CCA391358277OCA2c.2419A>G (p.Met807Val)
c.2347A>G (p.Met783Val)
c.2485A>G (p.Met829Val)
c.2461A>G (p.Met821Val)
c.2443A>G (p.Met815Val)
c.2413A>G (p.Met805Val)
c.2371A>G (p.Met791Val)
c.2278A>G (p.Met760Val)
c.2290A>G (p.Met764Val)
c.2268+26182A>G (n.2268+26182A>G)
 dbSNP gnomAD v2 gnomAD v4
15g.27844972T>GCA391358279OCA2c.2419A>C (p.Met807Leu)
c.2347A>C (p.Met783Leu)
c.2485A>C (p.Met829Leu)
c.2461A>C (p.Met821Leu)
c.2443A>C (p.Met815Leu)
c.2413A>C (p.Met805Leu)
c.2371A>C (p.Met791Leu)
c.2278A>C (p.Met760Leu)
c.2290A>C (p.Met764Leu)
c.2268+26182A>C (n.2268+26182A>C)
15g.27844972T=CA2166336926OCA2c.2419A= (p.Met807=)
c.2347A= (p.Met783=)
c.2485A= (p.Met829=)
c.2461A= (p.Met821=)
c.2443A= (p.Met815=)
c.2413A= (p.Met805=)
c.2371A= (p.Met791=)
c.2278A= (p.Met760=)
c.2290A= (p.Met764=)
c.2268+26182A= (n.2268+26182A=)
15g.27844973G>ACA488958579OCA2c.2418C>T (p.Phe806=)
c.2346C>T (p.Phe782=)
c.2484C>T (p.Phe828=)
c.2460C>T (p.Phe820=)
c.2442C>T (p.Phe814=)
c.2412C>T (p.Phe804=)
c.2370C>T (p.Phe790=)
c.2277C>T (p.Phe759=)
c.2289C>T (p.Phe763=)
c.2268+26181C>T (n.2268+26181C>T)
15g.27844973G>CCA391358282OCA2c.2418C>G (p.Phe806Leu)
c.2346C>G (p.Phe782Leu)
c.2484C>G (p.Phe828Leu)
c.2460C>G (p.Phe820Leu)
c.2442C>G (p.Phe814Leu)
c.2412C>G (p.Phe804Leu)
c.2370C>G (p.Phe790Leu)
c.2277C>G (p.Phe759Leu)
c.2289C>G (p.Phe763Leu)
c.2268+26181C>G (n.2268+26181C>G)
15g.27844973G>TCA391358280OCA2c.2418C>A (p.Phe806Leu)
c.2346C>A (p.Phe782Leu)
c.2484C>A (p.Phe828Leu)
c.2460C>A (p.Phe820Leu)
c.2442C>A (p.Phe814Leu)
c.2412C>A (p.Phe804Leu)
c.2370C>A (p.Phe790Leu)
c.2277C>A (p.Phe759Leu)
c.2289C>A (p.Phe763Leu)
c.2268+26181C>A (n.2268+26181C>A)
15g.27844974A>CCA391358284OCA2c.2417T>G (p.Phe806Cys)
c.2345T>G (p.Phe782Cys)
c.2483T>G (p.Phe828Cys)
c.2459T>G (p.Phe820Cys)
c.2441T>G (p.Phe814Cys)
c.2411T>G (p.Phe804Cys)
c.2369T>G (p.Phe790Cys)
c.2276T>G (p.Phe759Cys)
c.2288T>G (p.Phe763Cys)
c.2268+26180T>G (n.2268+26180T>G)
15g.27844974A>GCA391358286OCA2c.2417T>C (p.Phe806Ser)
c.2345T>C (p.Phe782Ser)
c.2483T>C (p.Phe828Ser)
c.2459T>C (p.Phe820Ser)
c.2441T>C (p.Phe814Ser)
c.2411T>C (p.Phe804Ser)
c.2369T>C (p.Phe790Ser)
c.2276T>C (p.Phe759Ser)
c.2288T>C (p.Phe763Ser)
c.2268+26180T>C (n.2268+26180T>C)
15g.27844974A>TCA391358287OCA2c.2417T>A (p.Phe806Tyr)
c.2345T>A (p.Phe782Tyr)
c.2483T>A (p.Phe828Tyr)
c.2459T>A (p.Phe820Tyr)
c.2441T>A (p.Phe814Tyr)
c.2411T>A (p.Phe804Tyr)
c.2369T>A (p.Phe790Tyr)
c.2276T>A (p.Phe759Tyr)
c.2288T>A (p.Phe763Tyr)
c.2268+26180T>A (n.2268+26180T>A)
15g.27844975A>CCA391358289OCA2c.2416T>G (p.Phe806Val)
c.2344T>G (p.Phe782Val)
c.2482T>G (p.Phe828Val)
c.2458T>G (p.Phe820Val)
c.2440T>G (p.Phe814Val)
c.2410T>G (p.Phe804Val)
c.2368T>G (p.Phe790Val)
c.2275T>G (p.Phe759Val)
c.2287T>G (p.Phe763Val)
c.2268+26179T>G (n.2268+26179T>G)
15g.27844975A>GCA391358292OCA2c.2416T>C (p.Phe806Leu)
c.2344T>C (p.Phe782Leu)
c.2482T>C (p.Phe828Leu)
c.2458T>C (p.Phe820Leu)
c.2440T>C (p.Phe814Leu)
c.2410T>C (p.Phe804Leu)
c.2368T>C (p.Phe790Leu)
c.2275T>C (p.Phe759Leu)
c.2287T>C (p.Phe763Leu)
c.2268+26179T>C (n.2268+26179T>C)
15g.27844975A>TCA391358293OCA2c.2416T>A (p.Phe806Ile)
c.2344T>A (p.Phe782Ile)
c.2482T>A (p.Phe828Ile)
c.2458T>A (p.Phe820Ile)
c.2440T>A (p.Phe814Ile)
c.2410T>A (p.Phe804Ile)
c.2368T>A (p.Phe790Ile)
c.2275T>A (p.Phe759Ile)
c.2287T>A (p.Phe763Ile)
c.2268+26179T>A (n.2268+26179T>A)
15g.27844976G>ACA488958580OCA2c.2415C>T (p.Ser805=)
c.2343C>T (p.Ser781=)
c.2481C>T (p.Ser827=)
c.2457C>T (p.Ser819=)
c.2439C>T (p.Ser813=)
c.2409C>T (p.Ser803=)
c.2367C>T (p.Ser789=)
c.2274C>T (p.Ser758=)
c.2286C>T (p.Ser762=)
c.2268+26178C>T (n.2268+26178C>T)
 COSMIC
15g.27844976G>CCA488958581OCA2c.2415C>G (p.Ser805=)
c.2343C>G (p.Ser781=)
c.2481C>G (p.Ser827=)
c.2457C>G (p.Ser819=)
c.2439C>G (p.Ser813=)
c.2409C>G (p.Ser803=)
c.2367C>G (p.Ser789=)
c.2274C>G (p.Ser758=)
c.2286C>G (p.Ser762=)
c.2268+26178C>G (n.2268+26178C>G)
15g.27844976G>TCA488958582OCA2c.2415C>A (p.Ser805=)
c.2343C>A (p.Ser781=)
c.2481C>A (p.Ser827=)
c.2457C>A (p.Ser819=)
c.2439C>A (p.Ser813=)
c.2409C>A (p.Ser803=)
c.2367C>A (p.Ser789=)
c.2274C>A (p.Ser758=)
c.2286C>A (p.Ser762=)
c.2268+26178C>A (n.2268+26178C>A)
15g.27844977G>ACA7438579OCA2c.2414C>T (p.Ser805Phe)
c.2342C>T (p.Ser781Phe)
c.2480C>T (p.Ser827Phe)
c.2456C>T (p.Ser819Phe)
c.2438C>T (p.Ser813Phe)
c.2408C>T (p.Ser803Phe)
c.2366C>T (p.Ser789Phe)
c.2273C>T (p.Ser758Phe)
c.2285C>T (p.Ser762Phe)
c.2268+26177C>T (n.2268+26177C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27844977G>CCA391358294OCA2c.2414C>G (p.Ser805Cys)
c.2342C>G (p.Ser781Cys)
c.2480C>G (p.Ser827Cys)
c.2456C>G (p.Ser819Cys)
c.2438C>G (p.Ser813Cys)
c.2408C>G (p.Ser803Cys)
c.2366C>G (p.Ser789Cys)
c.2273C>G (p.Ser758Cys)
c.2285C>G (p.Ser762Cys)
c.2268+26177C>G (n.2268+26177C>G)
 ClinVar
15g.27844977G=CA2166336930OCA2c.2414C= (p.Ser805=)
c.2342C= (p.Ser781=)
c.2480C= (p.Ser827=)
c.2456C= (p.Ser819=)
c.2438C= (p.Ser813=)
c.2408C= (p.Ser803=)
c.2366C= (p.Ser789=)
c.2273C= (p.Ser758=)
c.2285C= (p.Ser762=)
c.2268+26177C= (n.2268+26177C=)
15g.27844977G>TCA391358295OCA2c.2414C>A (p.Ser805Tyr)
c.2342C>A (p.Ser781Tyr)
c.2480C>A (p.Ser827Tyr)
c.2456C>A (p.Ser819Tyr)
c.2438C>A (p.Ser813Tyr)
c.2408C>A (p.Ser803Tyr)
c.2366C>A (p.Ser789Tyr)
c.2273C>A (p.Ser758Tyr)
c.2285C>A (p.Ser762Tyr)
c.2268+26177C>A (n.2268+26177C>A)
15g.27844978A=CA2166336935OCA2c.2413T= (p.Ser805=)
c.2341T= (p.Ser781=)
c.2479T= (p.Ser827=)
c.2455T= (p.Ser819=)
c.2437T= (p.Ser813=)
c.2407T= (p.Ser803=)
c.2365T= (p.Ser789=)
c.2272T= (p.Ser758=)
c.2284T= (p.Ser762=)
c.2268+26176T= (n.2268+26176T=)
15g.27844978A>CCA391358297OCA2c.2413T>G (p.Ser805Ala)
c.2341T>G (p.Ser781Ala)
c.2479T>G (p.Ser827Ala)
c.2455T>G (p.Ser819Ala)
c.2437T>G (p.Ser813Ala)
c.2407T>G (p.Ser803Ala)
c.2365T>G (p.Ser789Ala)
c.2272T>G (p.Ser758Ala)
c.2284T>G (p.Ser762Ala)
c.2268+26176T>G (n.2268+26176T>G)
15g.27844978A>GCA391358299OCA2c.2413T>C (p.Ser805Pro)
c.2341T>C (p.Ser781Pro)
c.2479T>C (p.Ser827Pro)
c.2455T>C (p.Ser819Pro)
c.2437T>C (p.Ser813Pro)
c.2407T>C (p.Ser803Pro)
c.2365T>C (p.Ser789Pro)
c.2272T>C (p.Ser758Pro)
c.2284T>C (p.Ser762Pro)
c.2268+26176T>C (n.2268+26176T>C)
 gnomAD v4
15g.27844978A>TCA7438580OCA2c.2413T>A (p.Ser805Thr)
c.2341T>A (p.Ser781Thr)
c.2479T>A (p.Ser827Thr)
c.2455T>A (p.Ser819Thr)
c.2437T>A (p.Ser813Thr)
c.2407T>A (p.Ser803Thr)
c.2365T>A (p.Ser789Thr)
c.2272T>A (p.Ser758Thr)
c.2284T>A (p.Ser762Thr)
c.2268+26176T>A (n.2268+26176T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27844979G>ACA488958583OCA2c.2412C>T (p.Phe804=)
c.2340C>T (p.Phe780=)
c.2478C>T (p.Phe826=)
c.2454C>T (p.Phe818=)
c.2436C>T (p.Phe812=)
c.2406C>T (p.Phe802=)
c.2364C>T (p.Phe788=)
c.2271C>T (p.Phe757=)
c.2283C>T (p.Phe761=)
c.2268+26175C>T (n.2268+26175C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.27844979G>CCA7438581OCA2c.2412C>G (p.Phe804Leu)
c.2340C>G (p.Phe780Leu)
c.2478C>G (p.Phe826Leu)
c.2454C>G (p.Phe818Leu)
c.2436C>G (p.Phe812Leu)
c.2406C>G (p.Phe802Leu)
c.2364C>G (p.Phe788Leu)
c.2271C>G (p.Phe757Leu)
c.2283C>G (p.Phe761Leu)
c.2268+26175C>G (n.2268+26175C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27844979G=CA2166336940OCA2c.2412C= (p.Phe804=)
c.2340C= (p.Phe780=)
c.2478C= (p.Phe826=)
c.2454C= (p.Phe818=)
c.2436C= (p.Phe812=)
c.2406C= (p.Phe802=)
c.2364C= (p.Phe788=)
c.2271C= (p.Phe757=)
c.2283C= (p.Phe761=)
c.2268+26175C= (n.2268+26175C=)
15g.27844979G>TCA391358303OCA2c.2412C>A (p.Phe804Leu)
c.2340C>A (p.Phe780Leu)
c.2478C>A (p.Phe826Leu)
c.2454C>A (p.Phe818Leu)
c.2436C>A (p.Phe812Leu)
c.2406C>A (p.Phe802Leu)
c.2364C>A (p.Phe788Leu)
c.2271C>A (p.Phe757Leu)
c.2283C>A (p.Phe761Leu)
c.2268+26175C>A (n.2268+26175C>A)
15g.27844980A>CCA391358306OCA2c.2411T>G (p.Phe804Cys)
c.2339T>G (p.Phe780Cys)
c.2477T>G (p.Phe826Cys)
c.2453T>G (p.Phe818Cys)
c.2435T>G (p.Phe812Cys)
c.2405T>G (p.Phe802Cys)
c.2363T>G (p.Phe788Cys)
c.2270T>G (p.Phe757Cys)
c.2282T>G (p.Phe761Cys)
c.2268+26174T>G (n.2268+26174T>G)
15g.27844980A>GCA391358308OCA2c.2411T>C (p.Phe804Ser)
c.2339T>C (p.Phe780Ser)
c.2477T>C (p.Phe826Ser)
c.2453T>C (p.Phe818Ser)
c.2435T>C (p.Phe812Ser)
c.2405T>C (p.Phe802Ser)
c.2363T>C (p.Phe788Ser)
c.2270T>C (p.Phe757Ser)
c.2282T>C (p.Phe761Ser)
c.2268+26174T>C (n.2268+26174T>C)
15g.27844980A>TCA391358309OCA2c.2411T>A (p.Phe804Tyr)
c.2339T>A (p.Phe780Tyr)
c.2477T>A (p.Phe826Tyr)
c.2453T>A (p.Phe818Tyr)
c.2435T>A (p.Phe812Tyr)
c.2405T>A (p.Phe802Tyr)
c.2363T>A (p.Phe788Tyr)
c.2270T>A (p.Phe757Tyr)
c.2282T>A (p.Phe761Tyr)
c.2268+26174T>A (n.2268+26174T>A)
15g.27844981A>CCA391358312OCA2c.2410T>G (p.Phe804Val)
c.2338T>G (p.Phe780Val)
c.2476T>G (p.Phe826Val)
c.2452T>G (p.Phe818Val)
c.2434T>G (p.Phe812Val)
c.2404T>G (p.Phe802Val)
c.2362T>G (p.Phe788Val)
c.2269T>G (p.Phe757Val)
c.2281T>G (p.Phe761Val)
c.2268+26173T>G (n.2268+26173T>G)
15g.27844981A>GCA391358313OCA2c.2410T>C (p.Phe804Leu)
c.2338T>C (p.Phe780Leu)
c.2476T>C (p.Phe826Leu)
c.2452T>C (p.Phe818Leu)
c.2434T>C (p.Phe812Leu)
c.2404T>C (p.Phe802Leu)
c.2362T>C (p.Phe788Leu)
c.2269T>C (p.Phe757Leu)
c.2281T>C (p.Phe761Leu)
c.2268+26173T>C (n.2268+26173T>C)
 COSMIC
15g.27844981A>TCA391358314OCA2c.2410T>A (p.Phe804Ile)
c.2338T>A (p.Phe780Ile)
c.2476T>A (p.Phe826Ile)
c.2452T>A (p.Phe818Ile)
c.2434T>A (p.Phe812Ile)
c.2404T>A (p.Phe802Ile)
c.2362T>A (p.Phe788Ile)
c.2269T>A (p.Phe757Ile)
c.2281T>A (p.Phe761Ile)
c.2268+26173T>A (n.2268+26173T>A)
15g.27844982C>ACA488958584OCA2c.2409G>T (p.Gly803=)
c.2337G>T (p.Gly779=)
c.2475G>T (p.Gly825=)
c.2451G>T (p.Gly817=)
c.2433G>T (p.Gly811=)
c.2403G>T (p.Gly801=)
c.2361G>T (p.Gly787=)
c.2268G>T (p.Gly756=)
c.2280G>T (p.Gly760=)
c.2268+26172G>T (n.2268+26172G>T)
 dbSNP gnomAD v2 gnomAD v4
15g.27844982C=CA2166336946OCA2c.2409G= (p.Gly803=)
c.2337G= (p.Gly779=)
c.2475G= (p.Gly825=)
c.2451G= (p.Gly817=)
c.2433G= (p.Gly811=)
c.2403G= (p.Gly801=)
c.2361G= (p.Gly787=)
c.2268G= (p.Gly756=)
c.2280G= (p.Gly760=)
c.2268+26172G= (n.2268+26172G=)
15g.27844982C>GCA488958585OCA2c.2409G>C (p.Gly803=)
c.2337G>C (p.Gly779=)
c.2475G>C (p.Gly825=)
c.2451G>C (p.Gly817=)
c.2433G>C (p.Gly811=)
c.2403G>C (p.Gly801=)
c.2361G>C (p.Gly787=)
c.2268G>C (p.Gly756=)
c.2280G>C (p.Gly760=)
c.2268+26172G>C (n.2268+26172G>C)
15g.27844982C>TCA488958586OCA2c.2409G>A (p.Gly803=)
c.2337G>A (p.Gly779=)
c.2475G>A (p.Gly825=)
c.2451G>A (p.Gly817=)
c.2433G>A (p.Gly811=)
c.2403G>A (p.Gly801=)
c.2361G>A (p.Gly787=)
c.2268G>A (p.Gly756=)
c.2280G>A (p.Gly760=)
c.2268+26172G>A (n.2268+26172G>A)
 ClinVar dbSNP
15g.27844984delCA2627378235OCA2c.2409del (p.Phe804SerfsTer13)
c.2337del (p.Phe780SerfsTer13)
c.2475del (p.Phe826SerfsTer13)
c.2451del (p.Phe818SerfsTer13)
c.2433del (p.Phe812SerfsTer13)
c.2403del (p.Phe802SerfsTer13)
c.2361del (p.Phe788SerfsTer13)
c.2268del (p.Phe757SerfsTer13)
c.2433del (p.Phe812SerfsTer?)
c.2280del (p.Phe761SerfsTer13)
c.2268+26172del (n.2268+26172del)
c.2268del (p.Phe757SerfsTer?)
 gnomAD v4
15g.27844983C>ACA391358317OCA2c.2408G>T (p.Gly803Val)
c.2336G>T (p.Gly779Val)
c.2474G>T (p.Gly825Val)
c.2450G>T (p.Gly817Val)
c.2432G>T (p.Gly811Val)
c.2402G>T (p.Gly801Val)
c.2360G>T (p.Gly787Val)
c.2267G>T (p.Gly756Val)
c.2279G>T (p.Gly760Val)
c.2268+26171G>T (n.2268+26171G>T)
 dbSNP
15g.27844983C=CA2166336950OCA2c.2408G= (p.Gly803=)
c.2336G= (p.Gly779=)
c.2474G= (p.Gly825=)
c.2450G= (p.Gly817=)
c.2432G= (p.Gly811=)
c.2402G= (p.Gly801=)
c.2360G= (p.Gly787=)
c.2267G= (p.Gly756=)
c.2279G= (p.Gly760=)
c.2268+26171G= (n.2268+26171G=)
15g.27844983C>GCA391358315OCA2c.2408G>C (p.Gly803Ala)
c.2336G>C (p.Gly779Ala)
c.2474G>C (p.Gly825Ala)
c.2450G>C (p.Gly817Ala)
c.2432G>C (p.Gly811Ala)
c.2402G>C (p.Gly801Ala)
c.2360G>C (p.Gly787Ala)
c.2267G>C (p.Gly756Ala)
c.2279G>C (p.Gly760Ala)
c.2268+26171G>C (n.2268+26171G>C)
15g.27844983C>TCA391358316OCA2c.2408G>A (p.Gly803Glu)
c.2336G>A (p.Gly779Glu)
c.2474G>A (p.Gly825Glu)
c.2450G>A (p.Gly817Glu)
c.2432G>A (p.Gly811Glu)
c.2402G>A (p.Gly801Glu)
c.2360G>A (p.Gly787Glu)
c.2267G>A (p.Gly756Glu)
c.2279G>A (p.Gly760Glu)
c.2268+26171G>A (n.2268+26171G>A)
 dbSNP gnomAD v4
15g.27844984C>ACA391358318OCA2c.2407G>T (p.Gly803Trp)
c.2335G>T (p.Gly779Trp)
c.2473G>T (p.Gly825Trp)
c.2449G>T (p.Gly817Trp)
c.2431G>T (p.Gly811Trp)
c.2401G>T (p.Gly801Trp)
c.2359G>T (p.Gly787Trp)
c.2266G>T (p.Gly756Trp)
c.2278G>T (p.Gly760Trp)
c.2268+26170G>T (n.2268+26170G>T)
15g.27844984C>GCA391358320OCA2c.2407G>C (p.Gly803Arg)
c.2335G>C (p.Gly779Arg)
c.2473G>C (p.Gly825Arg)
c.2449G>C (p.Gly817Arg)
c.2431G>C (p.Gly811Arg)
c.2401G>C (p.Gly801Arg)
c.2359G>C (p.Gly787Arg)
c.2266G>C (p.Gly756Arg)
c.2278G>C (p.Gly760Arg)
c.2268+26170G>C (n.2268+26170G>C)
15g.27844984C>TCA391358321OCA2c.2407G>A (p.Gly803Arg)
c.2335G>A (p.Gly779Arg)
c.2473G>A (p.Gly825Arg)
c.2449G>A (p.Gly817Arg)
c.2431G>A (p.Gly811Arg)
c.2401G>A (p.Gly801Arg)
c.2359G>A (p.Gly787Arg)
c.2266G>A (p.Gly756Arg)
c.2278G>A (p.Gly760Arg)
c.2268+26170G>A (n.2268+26170G>A)
 gnomAD v4 COSMIC
15g.27844985A=CA2166336953OCA2c.2406T= (p.Tyr802=)
c.2334T= (p.Tyr778=)
c.2472T= (p.Tyr824=)
c.2448T= (p.Tyr816=)
c.2430T= (p.Tyr810=)
c.2400T= (p.Tyr800=)
c.2358T= (p.Tyr786=)
c.2265T= (p.Tyr755=)
c.2277T= (p.Tyr759=)
c.2268+26169T= (n.2268+26169T=)
15g.27844985A>CCA391358323OCA2c.2406T>G (p.Tyr802Ter)
c.2334T>G (p.Tyr778Ter)
c.2472T>G (p.Tyr824Ter)
c.2448T>G (p.Tyr816Ter)
c.2430T>G (p.Tyr810Ter)
c.2400T>G (p.Tyr800Ter)
c.2358T>G (p.Tyr786Ter)
c.2265T>G (p.Tyr755Ter)
c.2277T>G (p.Tyr759Ter)
c.2268+26169T>G (n.2268+26169T>G)
 ClinVar dbSNP
15g.27844985A>GCA488958587OCA2c.2406T>C (p.Tyr802=)
c.2334T>C (p.Tyr778=)
c.2472T>C (p.Tyr824=)
c.2448T>C (p.Tyr816=)
c.2430T>C (p.Tyr810=)
c.2400T>C (p.Tyr800=)
c.2358T>C (p.Tyr786=)
c.2265T>C (p.Tyr755=)
c.2277T>C (p.Tyr759=)
c.2268+26169T>C (n.2268+26169T>C)
15g.27844985A>TCA391358325OCA2c.2406T>A (p.Tyr802Ter)
c.2334T>A (p.Tyr778Ter)
c.2472T>A (p.Tyr824Ter)
c.2448T>A (p.Tyr816Ter)
c.2430T>A (p.Tyr810Ter)
c.2400T>A (p.Tyr800Ter)
c.2358T>A (p.Tyr786Ter)
c.2265T>A (p.Tyr755Ter)
c.2277T>A (p.Tyr759Ter)
c.2268+26169T>A (n.2268+26169T>A)
15g.27844986T>ACA391358327OCA2c.2405A>T (p.Tyr802Phe)
c.2333A>T (p.Tyr778Phe)
c.2471A>T (p.Tyr824Phe)
c.2447A>T (p.Tyr816Phe)
c.2429A>T (p.Tyr810Phe)
c.2399A>T (p.Tyr800Phe)
c.2357A>T (p.Tyr786Phe)
c.2264A>T (p.Tyr755Phe)
c.2276A>T (p.Tyr759Phe)
c.2268+26168A>T (n.2268+26168A>T)
15g.27844986T>CCA391358331OCA2c.2405A>G (p.Tyr802Cys)
c.2333A>G (p.Tyr778Cys)
c.2471A>G (p.Tyr824Cys)
c.2447A>G (p.Tyr816Cys)
c.2429A>G (p.Tyr810Cys)
c.2399A>G (p.Tyr800Cys)
c.2357A>G (p.Tyr786Cys)
c.2264A>G (p.Tyr755Cys)
c.2276A>G (p.Tyr759Cys)
c.2268+26168A>G (n.2268+26168A>G)
 gnomAD v4
15g.27844986T>GCA391358329OCA2c.2405A>C (p.Tyr802Ser)
c.2333A>C (p.Tyr778Ser)
c.2471A>C (p.Tyr824Ser)
c.2447A>C (p.Tyr816Ser)
c.2429A>C (p.Tyr810Ser)
c.2399A>C (p.Tyr800Ser)
c.2357A>C (p.Tyr786Ser)
c.2264A>C (p.Tyr755Ser)
c.2276A>C (p.Tyr759Ser)
c.2268+26168A>C (n.2268+26168A>C)
15g.27844987A>CCA391358334OCA2c.2404T>G (p.Tyr802Asp)
c.2332T>G (p.Tyr778Asp)
c.2470T>G (p.Tyr824Asp)
c.2446T>G (p.Tyr816Asp)
c.2428T>G (p.Tyr810Asp)
c.2398T>G (p.Tyr800Asp)
c.2356T>G (p.Tyr786Asp)
c.2263T>G (p.Tyr755Asp)
c.2275T>G (p.Tyr759Asp)
c.2268+26167T>G (n.2268+26167T>G)
15g.27844987A>GCA391358336OCA2c.2404T>C (p.Tyr802His)
c.2332T>C (p.Tyr778His)
c.2470T>C (p.Tyr824His)
c.2446T>C (p.Tyr816His)
c.2428T>C (p.Tyr810His)
c.2398T>C (p.Tyr800His)
c.2356T>C (p.Tyr786His)
c.2263T>C (p.Tyr755His)
c.2275T>C (p.Tyr759His)
c.2268+26167T>C (n.2268+26167T>C)
15g.27844987A>TCA391358337OCA2c.2404T>A (p.Tyr802Asn)
c.2332T>A (p.Tyr778Asn)
c.2470T>A (p.Tyr824Asn)
c.2446T>A (p.Tyr816Asn)
c.2428T>A (p.Tyr810Asn)
c.2398T>A (p.Tyr800Asn)
c.2356T>A (p.Tyr786Asn)
c.2263T>A (p.Tyr755Asn)
c.2275T>A (p.Tyr759Asn)
c.2268+26167T>A (n.2268+26167T>A)
15g.27844987dupCA2575652830OCA2c.2404dup (p.Tyr802LeufsTer?)
c.2332dup (p.Tyr778LeufsTer?)
c.2470dup (p.Tyr824LeufsTer?)
c.2446dup (p.Tyr816LeufsTer?)
c.2428dup (p.Tyr810LeufsTer?)
c.2398dup (p.Tyr800LeufsTer?)
c.2356dup (p.Tyr786LeufsTer?)
c.2263dup (p.Tyr755LeufsTer?)
c.2275dup (p.Tyr759LeufsTer?)
c.2268+26167dup (n.2268+26167dup)
 ClinVar gnomAD v4
15g.27844988T>ACA488958589OCA2c.2403A>T (p.Gly801=)
c.2331A>T (p.Gly777=)
c.2469A>T (p.Gly823=)
c.2445A>T (p.Gly815=)
c.2427A>T (p.Gly809=)
c.2397A>T (p.Gly799=)
c.2355A>T (p.Gly785=)
c.2262A>T (p.Gly754=)
c.2274A>T (p.Gly758=)
c.2268+26166A>T (n.2268+26166A>T)
 dbSNP gnomAD v2 gnomAD v4
15g.27844988T>CCA488958590OCA2c.2403A>G (p.Gly801=)
c.2331A>G (p.Gly777=)
c.2469A>G (p.Gly823=)
c.2445A>G (p.Gly815=)
c.2427A>G (p.Gly809=)
c.2397A>G (p.Gly799=)
c.2355A>G (p.Gly785=)
c.2262A>G (p.Gly754=)
c.2274A>G (p.Gly758=)
c.2268+26166A>G (n.2268+26166A>G)
 ClinVar dbSNP
15g.27844988T>GCA488958588OCA2c.2403A>C (p.Gly801=)
c.2331A>C (p.Gly777=)
c.2469A>C (p.Gly823=)
c.2445A>C (p.Gly815=)
c.2427A>C (p.Gly809=)
c.2397A>C (p.Gly799=)
c.2355A>C (p.Gly785=)
c.2262A>C (p.Gly754=)
c.2274A>C (p.Gly758=)
c.2268+26166A>C (n.2268+26166A>C)
15g.27844988T=CA2166336957OCA2c.2403A= (p.Gly801=)
c.2331A= (p.Gly777=)
c.2469A= (p.Gly823=)
c.2445A= (p.Gly815=)
c.2427A= (p.Gly809=)
c.2397A= (p.Gly799=)
c.2355A= (p.Gly785=)
c.2262A= (p.Gly754=)
c.2274A= (p.Gly758=)
c.2268+26166A= (n.2268+26166A=)
15g.27844989C>ACA391358339OCA2c.2402G>T (p.Gly801Val)
c.2330G>T (p.Gly777Val)
c.2468G>T (p.Gly823Val)
c.2444G>T (p.Gly815Val)
c.2426G>T (p.Gly809Val)
c.2396G>T (p.Gly799Val)
c.2354G>T (p.Gly785Val)
c.2261G>T (p.Gly754Val)
c.2273G>T (p.Gly758Val)
c.2268+26165G>T (n.2268+26165G>T)
 gnomAD v4
15g.27844989C>GCA391358341OCA2c.2402G>C (p.Gly801Ala)
c.2330G>C (p.Gly777Ala)
c.2468G>C (p.Gly823Ala)
c.2444G>C (p.Gly815Ala)
c.2426G>C (p.Gly809Ala)
c.2396G>C (p.Gly799Ala)
c.2354G>C (p.Gly785Ala)
c.2261G>C (p.Gly754Ala)
c.2273G>C (p.Gly758Ala)
c.2268+26165G>C (n.2268+26165G>C)
 gnomAD v4
15g.27844989C>TCA391358342OCA2c.2402G>A (p.Gly801Glu)
c.2330G>A (p.Gly777Glu)
c.2468G>A (p.Gly823Glu)
c.2444G>A (p.Gly815Glu)
c.2426G>A (p.Gly809Glu)
c.2396G>A (p.Gly799Glu)
c.2354G>A (p.Gly785Glu)
c.2261G>A (p.Gly754Glu)
c.2273G>A (p.Gly758Glu)
c.2268+26165G>A (n.2268+26165G>A)
 gnomAD v4
15g.27844990C>ACA391358344OCA2c.2401G>T (p.Gly801Ter)
c.2329G>T (p.Gly777Ter)
c.2467G>T (p.Gly823Ter)
c.2443G>T (p.Gly815Ter)
c.2425G>T (p.Gly809Ter)
c.2395G>T (p.Gly799Ter)
c.2353G>T (p.Gly785Ter)
c.2260G>T (p.Gly754Ter)
c.2272G>T (p.Gly758Ter)
c.2268+26164G>T (n.2268+26164G>T)
 ClinVar gnomAD v4
15g.27844990C>GCA391358346OCA2c.2401G>C (p.Gly801Arg)
c.2329G>C (p.Gly777Arg)
c.2467G>C (p.Gly823Arg)
c.2443G>C (p.Gly815Arg)
c.2425G>C (p.Gly809Arg)
c.2395G>C (p.Gly799Arg)
c.2353G>C (p.Gly785Arg)
c.2260G>C (p.Gly754Arg)
c.2272G>C (p.Gly758Arg)
c.2268+26164G>C (n.2268+26164G>C)
15g.27844990C>TCA391358347OCA2c.2401G>A (p.Gly801Arg)
c.2329G>A (p.Gly777Arg)
c.2467G>A (p.Gly823Arg)
c.2443G>A (p.Gly815Arg)
c.2425G>A (p.Gly809Arg)
c.2395G>A (p.Gly799Arg)
c.2353G>A (p.Gly785Arg)
c.2260G>A (p.Gly754Arg)
c.2272G>A (p.Gly758Arg)
c.2268+26164G>A (n.2268+26164G>A)
15g.27844991A>CCA391358350OCA2c.2400T>G (p.His800Gln)
c.2328T>G (p.His776Gln)
c.2466T>G (p.His822Gln)
c.2442T>G (p.His814Gln)
c.2424T>G (p.His808Gln)
c.2394T>G (p.His798Gln)
c.2352T>G (p.His784Gln)
c.2259T>G (p.His753Gln)
c.2271T>G (p.His757Gln)
c.2268+26163T>G (n.2268+26163T>G)
15g.27844991A>GCA488958591OCA2c.2400T>C (p.His800=)
c.2328T>C (p.His776=)
c.2466T>C (p.His822=)
c.2442T>C (p.His814=)
c.2424T>C (p.His808=)
c.2394T>C (p.His798=)
c.2352T>C (p.His784=)
c.2259T>C (p.His753=)
c.2271T>C (p.His757=)
c.2268+26163T>C (n.2268+26163T>C)
15g.27844991A>TCA391358352OCA2c.2400T>A (p.His800Gln)
c.2328T>A (p.His776Gln)
c.2466T>A (p.His822Gln)
c.2442T>A (p.His814Gln)
c.2424T>A (p.His808Gln)
c.2394T>A (p.His798Gln)
c.2352T>A (p.His784Gln)
c.2259T>A (p.His753Gln)
c.2271T>A (p.His757Gln)
c.2268+26163T>A (n.2268+26163T>A)
15g.27844992T>ACA391358353OCA2c.2399A>T (p.His800Leu)
c.2327A>T (p.His776Leu)
c.2465A>T (p.His822Leu)
c.2441A>T (p.His814Leu)
c.2423A>T (p.His808Leu)
c.2393A>T (p.His798Leu)
c.2351A>T (p.His784Leu)
c.2258A>T (p.His753Leu)
c.2270A>T (p.His757Leu)
c.2268+26162A>T (n.2268+26162A>T)
15g.27844992T>CCA391358356OCA2c.2399A>G (p.His800Arg)
c.2327A>G (p.His776Arg)
c.2465A>G (p.His822Arg)
c.2441A>G (p.His814Arg)
c.2423A>G (p.His808Arg)
c.2393A>G (p.His798Arg)
c.2351A>G (p.His784Arg)
c.2258A>G (p.His753Arg)
c.2270A>G (p.His757Arg)
c.2268+26162A>G (n.2268+26162A>G)
 dbSNP gnomAD v2 gnomAD v4
15g.27844992T>GCA391358355OCA2c.2399A>C (p.His800Pro)
c.2327A>C (p.His776Pro)
c.2465A>C (p.His822Pro)
c.2441A>C (p.His814Pro)
c.2423A>C (p.His808Pro)
c.2393A>C (p.His798Pro)
c.2351A>C (p.His784Pro)
c.2258A>C (p.His753Pro)
c.2270A>C (p.His757Pro)
c.2268+26162A>C (n.2268+26162A>C)
15g.27844992T=CA2166336959OCA2c.2399A= (p.His800=)
c.2327A= (p.His776=)
c.2465A= (p.His822=)
c.2441A= (p.His814=)
c.2423A= (p.His808=)
c.2393A= (p.His798=)
c.2351A= (p.His784=)
c.2258A= (p.His753=)
c.2270A= (p.His757=)
c.2268+26162A= (n.2268+26162A=)
15g.27844993G>ACA391358357OCA2c.2398C>T (p.His800Tyr)
c.2326C>T (p.His776Tyr)
c.2464C>T (p.His822Tyr)
c.2440C>T (p.His814Tyr)
c.2422C>T (p.His808Tyr)
c.2392C>T (p.His798Tyr)
c.2350C>T (p.His784Tyr)
c.2257C>T (p.His753Tyr)
c.2269C>T (p.His757Tyr)
c.2268+26161C>T (n.2268+26161C>T)
15g.27844993G>CCA391358360OCA2c.2398C>G (p.His800Asp)
c.2326C>G (p.His776Asp)
c.2464C>G (p.His822Asp)
c.2440C>G (p.His814Asp)
c.2422C>G (p.His808Asp)
c.2392C>G (p.His798Asp)
c.2350C>G (p.His784Asp)
c.2257C>G (p.His753Asp)
c.2269C>G (p.His757Asp)
c.2268+26161C>G (n.2268+26161C>G)
15g.27844993G>TCA391358358OCA2c.2398C>A (p.His800Asn)
c.2326C>A (p.His776Asn)
c.2464C>A (p.His822Asn)
c.2440C>A (p.His814Asn)
c.2422C>A (p.His808Asn)
c.2392C>A (p.His798Asn)
c.2350C>A (p.His784Asn)
c.2257C>A (p.His753Asn)
c.2269C>A (p.His757Asn)
c.2268+26161C>A (n.2268+26161C>A)
15g.27844994C>ACA391358362OCA2c.2397G>T (p.Gln799His)
c.2325G>T (p.Gln775His)
c.2463G>T (p.Gln821His)
c.2439G>T (p.Gln813His)
c.2421G>T (p.Gln807His)
c.2391G>T (p.Gln797His)
c.2349G>T (p.Gln783His)
c.2256G>T (p.Gln752His)
c.2268G>T (p.Gln756His)
c.2268+26160G>T (n.2268+26160G>T)
15g.27844994C=CA2166336963OCA2c.2397G= (p.Gln799=)
c.2325G= (p.Gln775=)
c.2463G= (p.Gln821=)
c.2439G= (p.Gln813=)
c.2421G= (p.Gln807=)
c.2391G= (p.Gln797=)
c.2349G= (p.Gln783=)
c.2256G= (p.Gln752=)
c.2268G= (p.Gln756=)
c.2268+26160G= (n.2268+26160G=)
15g.27844994C>GCA391358363OCA2c.2397G>C (p.Gln799His)
c.2325G>C (p.Gln775His)
c.2463G>C (p.Gln821His)
c.2439G>C (p.Gln813His)
c.2421G>C (p.Gln807His)
c.2391G>C (p.Gln797His)
c.2349G>C (p.Gln783His)
c.2256G>C (p.Gln752His)
c.2268G>C (p.Gln756His)
c.2268+26160G>C (n.2268+26160G>C)
15g.27844994C>TCA7438582OCA2c.2397G>A (p.Gln799=)
c.2325G>A (p.Gln775=)
c.2463G>A (p.Gln821=)
c.2439G>A (p.Gln813=)
c.2421G>A (p.Gln807=)
c.2391G>A (p.Gln797=)
c.2349G>A (p.Gln783=)
c.2256G>A (p.Gln752=)
c.2268G>A (p.Gln756=)
c.2268+26160G>A (n.2268+26160G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.27844995T>ACA391358365OCA2c.2396A>T (p.Gln799Leu)
c.2324A>T (p.Gln775Leu)
c.2462A>T (p.Gln821Leu)
c.2438A>T (p.Gln813Leu)
c.2420A>T (p.Gln807Leu)
c.2390A>T (p.Gln797Leu)
c.2348A>T (p.Gln783Leu)
c.2255A>T (p.Gln752Leu)
c.2267A>T (p.Gln756Leu)
c.2268+26159A>T (n.2268+26159A>T)
15g.27844995T>CCA391358367OCA2c.2396A>G (p.Gln799Arg)
c.2324A>G (p.Gln775Arg)
c.2462A>G (p.Gln821Arg)
c.2438A>G (p.Gln813Arg)
c.2420A>G (p.Gln807Arg)
c.2390A>G (p.Gln797Arg)
c.2348A>G (p.Gln783Arg)
c.2255A>G (p.Gln752Arg)
c.2267A>G (p.Gln756Arg)
c.2268+26159A>G (n.2268+26159A>G)
15g.27844995T>GCA391358369OCA2c.2396A>C (p.Gln799Pro)
c.2324A>C (p.Gln775Pro)
c.2462A>C (p.Gln821Pro)
c.2438A>C (p.Gln813Pro)
c.2420A>C (p.Gln807Pro)
c.2390A>C (p.Gln797Pro)
c.2348A>C (p.Gln783Pro)
c.2255A>C (p.Gln752Pro)
c.2267A>C (p.Gln756Pro)
c.2268+26159A>C (n.2268+26159A>C)
15g.27844996G>ACA7438583OCA2c.2395C>T (p.Gln799Ter)
c.2323C>T (p.Gln775Ter)
c.2461C>T (p.Gln821Ter)
c.2437C>T (p.Gln813Ter)
c.2419C>T (p.Gln807Ter)
c.2389C>T (p.Gln797Ter)
c.2347C>T (p.Gln783Ter)
c.2254C>T (p.Gln752Ter)
c.2266C>T (p.Gln756Ter)
c.2268+26158C>T (n.2268+26158C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27844996G>CCA391358370OCA2c.2395C>G (p.Gln799Glu)
c.2323C>G (p.Gln775Glu)
c.2461C>G (p.Gln821Glu)
c.2437C>G (p.Gln813Glu)
c.2419C>G (p.Gln807Glu)
c.2389C>G (p.Gln797Glu)
c.2347C>G (p.Gln783Glu)
c.2254C>G (p.Gln752Glu)
c.2266C>G (p.Gln756Glu)
c.2268+26158C>G (n.2268+26158C>G)
15g.27844996G=CA2166336968OCA2c.2395C= (p.Gln799=)
c.2323C= (p.Gln775=)
c.2461C= (p.Gln821=)
c.2437C= (p.Gln813=)
c.2419C= (p.Gln807=)
c.2389C= (p.Gln797=)
c.2347C= (p.Gln783=)
c.2254C= (p.Gln752=)
c.2266C= (p.Gln756=)
c.2268+26158C= (n.2268+26158C=)
15g.27844996G>TCA7438584OCA2c.2395C>A (p.Gln799Lys)
c.2323C>A (p.Gln775Lys)
c.2461C>A (p.Gln821Lys)
c.2437C>A (p.Gln813Lys)
c.2419C>A (p.Gln807Lys)
c.2389C>A (p.Gln797Lys)
c.2347C>A (p.Gln783Lys)
c.2254C>A (p.Gln752Lys)
c.2266C>A (p.Gln756Lys)
c.2268+26158C>A (n.2268+26158C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27844997T>ACA391358372OCA2c.2394A>T (p.Glu798Asp)
c.2322A>T (p.Glu774Asp)
c.2460A>T (p.Glu820Asp)
c.2436A>T (p.Glu812Asp)
c.2418A>T (p.Glu806Asp)
c.2388A>T (p.Glu796Asp)
c.2346A>T (p.Glu782Asp)
c.2253A>T (p.Glu751Asp)
c.2265A>T (p.Glu755Asp)
c.2268+26157A>T (n.2268+26157A>T)
15g.27844997T>CCA488958592OCA2c.2394A>G (p.Glu798=)
c.2322A>G (p.Glu774=)
c.2460A>G (p.Glu820=)
c.2436A>G (p.Glu812=)
c.2418A>G (p.Glu806=)
c.2388A>G (p.Glu796=)
c.2346A>G (p.Glu782=)
c.2253A>G (p.Glu751=)
c.2265A>G (p.Glu755=)
c.2268+26157A>G (n.2268+26157A>G)
 gnomAD v4
15g.27844997T>GCA391358374OCA2c.2394A>C (p.Glu798Asp)
c.2322A>C (p.Glu774Asp)
c.2460A>C (p.Glu820Asp)
c.2436A>C (p.Glu812Asp)
c.2418A>C (p.Glu806Asp)
c.2388A>C (p.Glu796Asp)
c.2346A>C (p.Glu782Asp)
c.2253A>C (p.Glu751Asp)
c.2265A>C (p.Glu755Asp)
c.2268+26157A>C (n.2268+26157A>C)
 dbSNP
15g.27844997T=CA2166336973OCA2c.2394A= (p.Glu798=)
c.2322A= (p.Glu774=)
c.2460A= (p.Glu820=)
c.2436A= (p.Glu812=)
c.2418A= (p.Glu806=)
c.2388A= (p.Glu796=)
c.2346A= (p.Glu782=)
c.2253A= (p.Glu751=)
c.2265A= (p.Glu755=)
c.2268+26157A= (n.2268+26157A=)
15g.27844998T>ACA391358378OCA2c.2393A>T (p.Glu798Val)
c.2321A>T (p.Glu774Val)
c.2459A>T (p.Glu820Val)
c.2435A>T (p.Glu812Val)
c.2417A>T (p.Glu806Val)
c.2387A>T (p.Glu796Val)
c.2345A>T (p.Glu782Val)
c.2252A>T (p.Glu751Val)
c.2264A>T (p.Glu755Val)
c.2268+26156A>T (n.2268+26156A>T)
15g.27844998T>CCA391358377OCA2c.2393A>G (p.Glu798Gly)
c.2321A>G (p.Glu774Gly)
c.2459A>G (p.Glu820Gly)
c.2435A>G (p.Glu812Gly)
c.2417A>G (p.Glu806Gly)
c.2387A>G (p.Glu796Gly)
c.2345A>G (p.Glu782Gly)
c.2252A>G (p.Glu751Gly)
c.2264A>G (p.Glu755Gly)
c.2268+26156A>G (n.2268+26156A>G)
15g.27844998T>GCA391358376OCA2c.2393A>C (p.Glu798Ala)
c.2321A>C (p.Glu774Ala)
c.2459A>C (p.Glu820Ala)
c.2435A>C (p.Glu812Ala)
c.2417A>C (p.Glu806Ala)
c.2387A>C (p.Glu796Ala)
c.2345A>C (p.Glu782Ala)
c.2252A>C (p.Glu751Ala)
c.2264A>C (p.Glu755Ala)
c.2268+26156A>C (n.2268+26156A>C)
15g.27844999C>ACA391358380OCA2c.2392G>T (p.Glu798Ter)
c.2320G>T (p.Glu774Ter)
c.2458G>T (p.Glu820Ter)
c.2434G>T (p.Glu812Ter)
c.2416G>T (p.Glu806Ter)
c.2386G>T (p.Glu796Ter)
c.2344G>T (p.Glu782Ter)
c.2251G>T (p.Glu751Ter)
c.2263G>T (p.Glu755Ter)
c.2268+26155G>T (n.2268+26155G>T)
 COSMIC
15g.27844999C>GCA391358384OCA2c.2392G>C (p.Glu798Gln)
c.2320G>C (p.Glu774Gln)
c.2458G>C (p.Glu820Gln)
c.2434G>C (p.Glu812Gln)
c.2416G>C (p.Glu806Gln)
c.2386G>C (p.Glu796Gln)
c.2344G>C (p.Glu782Gln)
c.2251G>C (p.Glu751Gln)
c.2263G>C (p.Glu755Gln)
c.2268+26155G>C (n.2268+26155G>C)
15g.27844999C>TCA391358386OCA2c.2392G>A (p.Glu798Lys)
c.2320G>A (p.Glu774Lys)
c.2458G>A (p.Glu820Lys)
c.2434G>A (p.Glu812Lys)
c.2416G>A (p.Glu806Lys)
c.2386G>A (p.Glu796Lys)
c.2344G>A (p.Glu782Lys)
c.2251G>A (p.Glu751Lys)
c.2263G>A (p.Glu755Lys)
c.2268+26155G>A (n.2268+26155G>A)
15g.27845000T>ACA488958593OCA2c.2391A>T (p.Ala797=)
c.2319A>T (p.Ala773=)
c.2457A>T (p.Ala819=)
c.2433A>T (p.Ala811=)
c.2415A>T (p.Ala805=)
c.2385A>T (p.Ala795=)
c.2343A>T (p.Ala781=)
c.2250A>T (p.Ala750=)
c.2262A>T (p.Ala754=)
c.2268+26154A>T (n.2268+26154A>T)
15g.27845000T>CCA488958594OCA2c.2391A>G (p.Ala797=)
c.2319A>G (p.Ala773=)
c.2457A>G (p.Ala819=)
c.2433A>G (p.Ala811=)
c.2415A>G (p.Ala805=)
c.2385A>G (p.Ala795=)
c.2343A>G (p.Ala781=)
c.2250A>G (p.Ala750=)
c.2262A>G (p.Ala754=)
c.2268+26154A>G (n.2268+26154A>G)
 gnomAD v4
15g.27845000T>GCA488958595OCA2c.2391A>C (p.Ala797=)
c.2319A>C (p.Ala773=)
c.2457A>C (p.Ala819=)
c.2433A>C (p.Ala811=)
c.2415A>C (p.Ala805=)
c.2385A>C (p.Ala795=)
c.2343A>C (p.Ala781=)
c.2250A>C (p.Ala750=)
c.2262A>C (p.Ala754=)
c.2268+26154A>C (n.2268+26154A>C)
15g.27845001G>ACA391358388OCA2c.2390C>T (p.Ala797Val)
c.2318C>T (p.Ala773Val)
c.2456C>T (p.Ala819Val)
c.2432C>T (p.Ala811Val)
c.2414C>T (p.Ala805Val)
c.2384C>T (p.Ala795Val)
c.2342C>T (p.Ala781Val)
c.2249C>T (p.Ala750Val)
c.2261C>T (p.Ala754Val)
c.2268+26153C>T (n.2268+26153C>T)
15g.27845001G>CCA391358390OCA2c.2390C>G (p.Ala797Gly)
c.2318C>G (p.Ala773Gly)
c.2456C>G (p.Ala819Gly)
c.2432C>G (p.Ala811Gly)
c.2414C>G (p.Ala805Gly)
c.2384C>G (p.Ala795Gly)
c.2342C>G (p.Ala781Gly)
c.2249C>G (p.Ala750Gly)
c.2261C>G (p.Ala754Gly)
c.2268+26153C>G (n.2268+26153C>G)
15g.27845001G>TCA391358392OCA2c.2390C>A (p.Ala797Glu)
c.2318C>A (p.Ala773Glu)
c.2456C>A (p.Ala819Glu)
c.2432C>A (p.Ala811Glu)
c.2414C>A (p.Ala805Glu)
c.2384C>A (p.Ala795Glu)
c.2342C>A (p.Ala781Glu)
c.2249C>A (p.Ala750Glu)
c.2261C>A (p.Ala754Glu)
c.2268+26153C>A (n.2268+26153C>A)
15g.27845002C>ACA7438585OCA2c.2389G>T (p.Ala797Ser)
c.2317G>T (p.Ala773Ser)
c.2455G>T (p.Ala819Ser)
c.2431G>T (p.Ala811Ser)
c.2413G>T (p.Ala805Ser)
c.2383G>T (p.Ala795Ser)
c.2341G>T (p.Ala781Ser)
c.2248G>T (p.Ala750Ser)
c.2260G>T (p.Ala754Ser)
c.2268+26152G>T (n.2268+26152G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27845002C=CA2166336977OCA2c.2389G= (p.Ala797=)
c.2317G= (p.Ala773=)
c.2455G= (p.Ala819=)
c.2431G= (p.Ala811=)
c.2413G= (p.Ala805=)
c.2383G= (p.Ala795=)
c.2341G= (p.Ala781=)
c.2248G= (p.Ala750=)
c.2260G= (p.Ala754=)
c.2268+26152G= (n.2268+26152G=)
15g.27845002C>GCA391358394OCA2c.2389G>C (p.Ala797Pro)
c.2317G>C (p.Ala773Pro)
c.2455G>C (p.Ala819Pro)
c.2431G>C (p.Ala811Pro)
c.2413G>C (p.Ala805Pro)
c.2383G>C (p.Ala795Pro)
c.2341G>C (p.Ala781Pro)
c.2248G>C (p.Ala750Pro)
c.2260G>C (p.Ala754Pro)
c.2268+26152G>C (n.2268+26152G>C)
15g.27845002C>TCA391358395OCA2c.2389G>A (p.Ala797Thr)
c.2317G>A (p.Ala773Thr)
c.2455G>A (p.Ala819Thr)
c.2431G>A (p.Ala811Thr)
c.2413G>A (p.Ala805Thr)
c.2383G>A (p.Ala795Thr)
c.2341G>A (p.Ala781Thr)
c.2248G>A (p.Ala750Thr)
c.2260G>A (p.Ala754Thr)
c.2268+26152G>A (n.2268+26152G>A)
15g.27845003A=CA2166336981OCA2c.2388T= (p.Ile796=)
c.2316T= (p.Ile772=)
c.2454T= (p.Ile818=)
c.2430T= (p.Ile810=)
c.2412T= (p.Ile804=)
c.2382T= (p.Ile794=)
c.2340T= (p.Ile780=)
c.2247T= (p.Ile749=)
c.2259T= (p.Ile753=)
c.2268+26151T= (n.2268+26151T=)
15g.27845003A>CCA7438586OCA2c.2388T>G (p.Ile796Met)
c.2316T>G (p.Ile772Met)
c.2454T>G (p.Ile818Met)
c.2430T>G (p.Ile810Met)
c.2412T>G (p.Ile804Met)
c.2382T>G (p.Ile794Met)
c.2340T>G (p.Ile780Met)
c.2247T>G (p.Ile749Met)
c.2259T>G (p.Ile753Met)
c.2268+26151T>G (n.2268+26151T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.27845003A>GCA488958597OCA2c.2388T>C (p.Ile796=)
c.2316T>C (p.Ile772=)
c.2454T>C (p.Ile818=)
c.2430T>C (p.Ile810=)
c.2412T>C (p.Ile804=)
c.2382T>C (p.Ile794=)
c.2340T>C (p.Ile780=)
c.2247T>C (p.Ile749=)
c.2259T>C (p.Ile753=)
c.2268+26151T>C (n.2268+26151T>C)
15g.27845003A>TCA488958598OCA2c.2388T>A (p.Ile796=)
c.2316T>A (p.Ile772=)
c.2454T>A (p.Ile818=)
c.2430T>A (p.Ile810=)
c.2412T>A (p.Ile804=)
c.2382T>A (p.Ile794=)
c.2340T>A (p.Ile780=)
c.2247T>A (p.Ile749=)
c.2259T>A (p.Ile753=)
c.2268+26151T>A (n.2268+26151T>A)
15g.27845004A>CCA391358397OCA2c.2387T>G (p.Ile796Ser)
c.2315T>G (p.Ile772Ser)
c.2453T>G (p.Ile818Ser)
c.2429T>G (p.Ile810Ser)
c.2411T>G (p.Ile804Ser)
c.2381T>G (p.Ile794Ser)
c.2339T>G (p.Ile780Ser)
c.2246T>G (p.Ile749Ser)
c.2258T>G (p.Ile753Ser)
c.2268+26150T>G (n.2268+26150T>G)
15g.27845004A>GCA391358399OCA2c.2387T>C (p.Ile796Thr)
c.2315T>C (p.Ile772Thr)
c.2453T>C (p.Ile818Thr)
c.2429T>C (p.Ile810Thr)
c.2411T>C (p.Ile804Thr)
c.2381T>C (p.Ile794Thr)
c.2339T>C (p.Ile780Thr)
c.2246T>C (p.Ile749Thr)
c.2258T>C (p.Ile753Thr)
c.2268+26150T>C (n.2268+26150T>C)
15g.27845004A>TCA391358400OCA2c.2387T>A (p.Ile796Asn)
c.2315T>A (p.Ile772Asn)
c.2453T>A (p.Ile818Asn)
c.2429T>A (p.Ile810Asn)
c.2411T>A (p.Ile804Asn)
c.2381T>A (p.Ile794Asn)
c.2339T>A (p.Ile780Asn)
c.2246T>A (p.Ile749Asn)
c.2258T>A (p.Ile753Asn)
c.2268+26150T>A (n.2268+26150T>A)
15g.27845005T>ACA391358405OCA2c.2386A>T (p.Ile796Phe)
c.2314A>T (p.Ile772Phe)
c.2452A>T (p.Ile818Phe)
c.2428A>T (p.Ile810Phe)
c.2410A>T (p.Ile804Phe)
c.2380A>T (p.Ile794Phe)
c.2338A>T (p.Ile780Phe)
c.2245A>T (p.Ile749Phe)
c.2257A>T (p.Ile753Phe)
c.2268+26149A>T (n.2268+26149A>T)
15g.27845005T>CCA391358403OCA2c.2386A>G (p.Ile796Val)
c.2314A>G (p.Ile772Val)
c.2452A>G (p.Ile818Val)
c.2428A>G (p.Ile810Val)
c.2410A>G (p.Ile804Val)
c.2380A>G (p.Ile794Val)
c.2338A>G (p.Ile780Val)
c.2245A>G (p.Ile749Val)
c.2257A>G (p.Ile753Val)
c.2268+26149A>G (n.2268+26149A>G)
 dbSNP gnomAD v3 gnomAD v4
15g.27845005T>GCA391358401OCA2c.2386A>C (p.Ile796Leu)
c.2314A>C (p.Ile772Leu)
c.2452A>C (p.Ile818Leu)
c.2428A>C (p.Ile810Leu)
c.2410A>C (p.Ile804Leu)
c.2380A>C (p.Ile794Leu)
c.2338A>C (p.Ile780Leu)
c.2245A>C (p.Ile749Leu)
c.2257A>C (p.Ile753Leu)
c.2268+26149A>C (n.2268+26149A>C)
15g.27845005T=CA2166336986OCA2c.2386A= (p.Ile796=)
c.2314A= (p.Ile772=)
c.2452A= (p.Ile818=)
c.2428A= (p.Ile810=)
c.2410A= (p.Ile804=)
c.2380A= (p.Ile794=)
c.2338A= (p.Ile780=)
c.2245A= (p.Ile749=)
c.2257A= (p.Ile753=)
c.2268+26149A= (n.2268+26149A=)
15g.27845006C>ACA488958599OCA2c.2385G>T (p.Gly795=)
c.2313G>T (p.Gly771=)
c.2451G>T (p.Gly817=)
c.2427G>T (p.Gly809=)
c.2409G>T (p.Gly803=)
c.2379G>T (p.Gly793=)
c.2337G>T (p.Gly779=)
c.2244G>T (p.Gly748=)
c.2256G>T (p.Gly752=)
c.2268+26148G>T (n.2268+26148G>T)
 dbSNP
15g.27845006C>GCA488958600OCA2c.2385G>C (p.Gly795=)
c.2313G>C (p.Gly771=)
c.2451G>C (p.Gly817=)
c.2427G>C (p.Gly809=)
c.2409G>C (p.Gly803=)
c.2379G>C (p.Gly793=)
c.2337G>C (p.Gly779=)
c.2244G>C (p.Gly748=)
c.2256G>C (p.Gly752=)
c.2268+26148G>C (n.2268+26148G>C)
15g.27845006C>TCA488958601OCA2c.2385G>A (p.Gly795=)
c.2313G>A (p.Gly771=)
c.2451G>A (p.Gly817=)
c.2427G>A (p.Gly809=)
c.2409G>A (p.Gly803=)
c.2379G>A (p.Gly793=)
c.2337G>A (p.Gly779=)
c.2244G>A (p.Gly748=)
c.2256G>A (p.Gly752=)
c.2268+26148G>A (n.2268+26148G>A)
 ClinVar dbSNP
15g.27845007C>ACA391358409OCA2c.2384G>T (p.Gly795Val)
c.2312G>T (p.Gly771Val)
c.2450G>T (p.Gly817Val)
c.2426G>T (p.Gly809Val)
c.2408G>T (p.Gly803Val)
c.2378G>T (p.Gly793Val)
c.2336G>T (p.Gly779Val)
c.2243G>T (p.Gly748Val)
c.2255G>T (p.Gly752Val)
c.2268+26147G>T (n.2268+26147G>T)
 COSMIC
15g.27845007C>GCA391358406OCA2c.2384G>C (p.Gly795Ala)
c.2312G>C (p.Gly771Ala)
c.2450G>C (p.Gly817Ala)
c.2426G>C (p.Gly809Ala)
c.2408G>C (p.Gly803Ala)
c.2378G>C (p.Gly793Ala)
c.2336G>C (p.Gly779Ala)
c.2243G>C (p.Gly748Ala)
c.2255G>C (p.Gly752Ala)
c.2268+26147G>C (n.2268+26147G>C)
 gnomAD v4
15g.27845007C>TCA391358407OCA2c.2384G>A (p.Gly795Glu)
c.2312G>A (p.Gly771Glu)
c.2450G>A (p.Gly817Glu)
c.2426G>A (p.Gly809Glu)
c.2408G>A (p.Gly803Glu)
c.2378G>A (p.Gly793Glu)
c.2336G>A (p.Gly779Glu)
c.2243G>A (p.Gly748Glu)
c.2255G>A (p.Gly752Glu)
c.2268+26147G>A (n.2268+26147G>A)
15g.27845008C>ACA391358410OCA2c.2383G>T (p.Gly795Trp)
c.2311G>T (p.Gly771Trp)
c.2449G>T (p.Gly817Trp)
c.2425G>T (p.Gly809Trp)
c.2407G>T (p.Gly803Trp)
c.2377G>T (p.Gly793Trp)
c.2335G>T (p.Gly779Trp)
c.2242G>T (p.Gly748Trp)
c.2254G>T (p.Gly752Trp)
c.2268+26146G>T (n.2268+26146G>T)
 COSMIC
15g.27845008C=CA2166336991OCA2c.2383G= (p.Gly795=)
c.2311G= (p.Gly771=)
c.2449G= (p.Gly817=)
c.2425G= (p.Gly809=)
c.2407G= (p.Gly803=)
c.2377G= (p.Gly793=)
c.2335G= (p.Gly779=)
c.2242G= (p.Gly748=)
c.2254G= (p.Gly752=)
c.2268+26146G= (n.2268+26146G=)
15g.27845008C>GCA391358411OCA2c.2383G>C (p.Gly795Arg)
c.2311G>C (p.Gly771Arg)
c.2449G>C (p.Gly817Arg)
c.2425G>C (p.Gly809Arg)
c.2407G>C (p.Gly803Arg)
c.2377G>C (p.Gly793Arg)
c.2335G>C (p.Gly779Arg)
c.2242G>C (p.Gly748Arg)
c.2254G>C (p.Gly752Arg)
c.2268+26146G>C (n.2268+26146G>C)
 ClinVar COSMIC
15g.27845008C>TCA391358412OCA2c.2383G>A (p.Gly795Arg)
c.2311G>A (p.Gly771Arg)
c.2449G>A (p.Gly817Arg)
c.2425G>A (p.Gly809Arg)
c.2407G>A (p.Gly803Arg)
c.2377G>A (p.Gly793Arg)
c.2335G>A (p.Gly779Arg)
c.2242G>A (p.Gly748Arg)
c.2254G>A (p.Gly752Arg)
c.2268+26146G>A (n.2268+26146G>A)
 dbSNP
15g.27845009T>ACA488958602OCA2c.2382A>T (p.Ala794=)
c.2310A>T (p.Ala770=)
c.2448A>T (p.Ala816=)
c.2424A>T (p.Ala808=)
c.2406A>T (p.Ala802=)
c.2376A>T (p.Ala792=)
c.2334A>T (p.Ala778=)
c.2241A>T (p.Ala747=)
c.2253A>T (p.Ala751=)
c.2268+26145A>T (n.2268+26145A>T)
15g.27845009T>CCA488958604OCA2c.2382A>G (p.Ala794=)
c.2310A>G (p.Ala770=)
c.2448A>G (p.Ala816=)
c.2424A>G (p.Ala808=)
c.2406A>G (p.Ala802=)
c.2376A>G (p.Ala792=)
c.2334A>G (p.Ala778=)
c.2241A>G (p.Ala747=)
c.2253A>G (p.Ala751=)
c.2268+26145A>G (n.2268+26145A>G)
15g.27845009T>GCA488958603OCA2c.2382A>C (p.Ala794=)
c.2310A>C (p.Ala770=)
c.2448A>C (p.Ala816=)
c.2424A>C (p.Ala808=)
c.2406A>C (p.Ala802=)
c.2376A>C (p.Ala792=)
c.2334A>C (p.Ala778=)
c.2241A>C (p.Ala747=)
c.2253A>C (p.Ala751=)
c.2268+26145A>C (n.2268+26145A>C)
15g.27845010G>ACA391358414OCA2c.2381C>T (p.Ala794Val)
c.2309C>T (p.Ala770Val)
c.2447C>T (p.Ala816Val)
c.2423C>T (p.Ala808Val)
c.2405C>T (p.Ala802Val)
c.2375C>T (p.Ala792Val)
c.2333C>T (p.Ala778Val)
c.2240C>T (p.Ala747Val)
c.2252C>T (p.Ala751Val)
c.2268+26144C>T (n.2268+26144C>T)
15g.27845010G>CCA391358415OCA2c.2381C>G (p.Ala794Gly)
c.2309C>G (p.Ala770Gly)
c.2447C>G (p.Ala816Gly)
c.2423C>G (p.Ala808Gly)
c.2405C>G (p.Ala802Gly)
c.2375C>G (p.Ala792Gly)
c.2333C>G (p.Ala778Gly)
c.2240C>G (p.Ala747Gly)
c.2252C>G (p.Ala751Gly)
c.2268+26144C>G (n.2268+26144C>G)
15g.27845010G>TCA391358417OCA2c.2381C>A (p.Ala794Glu)
c.2309C>A (p.Ala770Glu)
c.2447C>A (p.Ala816Glu)
c.2423C>A (p.Ala808Glu)
c.2405C>A (p.Ala802Glu)
c.2375C>A (p.Ala792Glu)
c.2333C>A (p.Ala778Glu)
c.2240C>A (p.Ala747Glu)
c.2252C>A (p.Ala751Glu)
c.2268+26144C>A (n.2268+26144C>A)
15g.27845011C>ACA7438587OCA2c.2380G>T (p.Ala794Ser)
c.2308G>T (p.Ala770Ser)
c.2446G>T (p.Ala816Ser)
c.2422G>T (p.Ala808Ser)
c.2404G>T (p.Ala802Ser)
c.2374G>T (p.Ala792Ser)
c.2332G>T (p.Ala778Ser)
c.2239G>T (p.Ala747Ser)
c.2251G>T (p.Ala751Ser)
c.2268+26143G>T (n.2268+26143G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27845011C=CA2166336996OCA2c.2380G= (p.Ala794=)
c.2308G= (p.Ala770=)
c.2446G= (p.Ala816=)
c.2422G= (p.Ala808=)
c.2404G= (p.Ala802=)
c.2374G= (p.Ala792=)
c.2332G= (p.Ala778=)
c.2239G= (p.Ala747=)
c.2251G= (p.Ala751=)
c.2268+26143G= (n.2268+26143G=)
15g.27845011C>GCA391358420OCA2c.2380G>C (p.Ala794Pro)
c.2308G>C (p.Ala770Pro)
c.2446G>C (p.Ala816Pro)
c.2422G>C (p.Ala808Pro)
c.2404G>C (p.Ala802Pro)
c.2374G>C (p.Ala792Pro)
c.2332G>C (p.Ala778Pro)
c.2239G>C (p.Ala747Pro)
c.2251G>C (p.Ala751Pro)
c.2268+26143G>C (n.2268+26143G>C)
 COSMIC
15g.27845011C>TCA267839516OCA2c.2380G>A (p.Ala794Thr)
c.2308G>A (p.Ala770Thr)
c.2446G>A (p.Ala816Thr)
c.2422G>A (p.Ala808Thr)
c.2404G>A (p.Ala802Thr)
c.2374G>A (p.Ala792Thr)
c.2332G>A (p.Ala778Thr)
c.2239G>A (p.Ala747Thr)
c.2251G>A (p.Ala751Thr)
c.2268+26143G>A (n.2268+26143G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.27845012A>CCA391358424OCA2c.2379T>G (p.Cys793Trp)
c.2307T>G (p.Cys769Trp)
c.2445T>G (p.Cys815Trp)
c.2421T>G (p.Cys807Trp)
c.2403T>G (p.Cys801Trp)
c.2373T>G (p.Cys791Trp)
c.2331T>G (p.Cys777Trp)
c.2238T>G (p.Cys746Trp)
c.2250T>G (p.Cys750Trp)
c.2268+26142T>G (n.2268+26142T>G)
15g.27845012A>GCA488958605OCA2c.2379T>C (p.Cys793=)
c.2307T>C (p.Cys769=)
c.2445T>C (p.Cys815=)
c.2421T>C (p.Cys807=)
c.2403T>C (p.Cys801=)
c.2373T>C (p.Cys791=)
c.2331T>C (p.Cys777=)
c.2238T>C (p.Cys746=)
c.2250T>C (p.Cys750=)
c.2268+26142T>C (n.2268+26142T>C)
15g.27845012A>TCA391358425OCA2c.2379T>A (p.Cys793Ter)
c.2307T>A (p.Cys769Ter)
c.2445T>A (p.Cys815Ter)
c.2421T>A (p.Cys807Ter)
c.2403T>A (p.Cys801Ter)
c.2373T>A (p.Cys791Ter)
c.2331T>A (p.Cys777Ter)
c.2238T>A (p.Cys746Ter)
c.2250T>A (p.Cys750Ter)
c.2268+26142T>A (n.2268+26142T>A)
15g.27845013C>ACA391358431OCA2c.2378G>T (p.Cys793Phe)
c.2306G>T (p.Cys769Phe)
c.2444G>T (p.Cys815Phe)
c.2420G>T (p.Cys807Phe)
c.2402G>T (p.Cys801Phe)
c.2372G>T (p.Cys791Phe)
c.2330G>T (p.Cys777Phe)
c.2237G>T (p.Cys746Phe)
c.2249G>T (p.Cys750Phe)
c.2268+26141G>T (n.2268+26141G>T)
15g.27845013C=CA2166336999OCA2c.2378G= (p.Cys793=)
c.2306G= (p.Cys769=)
c.2444G= (p.Cys815=)
c.2420G= (p.Cys807=)
c.2402G= (p.Cys801=)
c.2372G= (p.Cys791=)
c.2330G= (p.Cys777=)
c.2237G= (p.Cys746=)
c.2249G= (p.Cys750=)
c.2268+26141G= (n.2268+26141G=)
15g.27845013C>GCA391358429OCA2c.2378G>C (p.Cys793Ser)
c.2306G>C (p.Cys769Ser)
c.2444G>C (p.Cys815Ser)
c.2420G>C (p.Cys807Ser)
c.2402G>C (p.Cys801Ser)
c.2372G>C (p.Cys791Ser)
c.2330G>C (p.Cys777Ser)
c.2237G>C (p.Cys746Ser)
c.2249G>C (p.Cys750Ser)
c.2268+26141G>C (n.2268+26141G>C)
15g.27845013C>TCA267839522OCA2c.2378G>A (p.Cys793Tyr)
c.2306G>A (p.Cys769Tyr)
c.2444G>A (p.Cys815Tyr)
c.2420G>A (p.Cys807Tyr)
c.2402G>A (p.Cys801Tyr)
c.2372G>A (p.Cys791Tyr)
c.2330G>A (p.Cys777Tyr)
c.2237G>A (p.Cys746Tyr)
c.2249G>A (p.Cys750Tyr)
c.2268+26141G>A (n.2268+26141G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.27845015_27845040delCA2695219903OCA2c.2353_2378del (p.Ile785CysfsTer?)
c.2281_2306del (p.Ile761CysfsTer?)
c.2419_2444del (p.Ile807CysfsTer?)
c.2395_2420del (p.Ile799CysfsTer?)
c.2377_2402del (p.Ile793CysfsTer?)
c.2347_2372del (p.Ile783CysfsTer?)
c.2305_2330del (p.Ile769CysfsTer?)
c.2212_2237del (p.Ile738CysfsTer?)
c.2224_2249del (p.Ile742CysfsTer?)
c.2268+26116_2268+26141del (n.2268+26116_2268+26141del)
15g.27845014A>CCA391358434OCA2c.2377T>G (p.Cys793Gly)
c.2305T>G (p.Cys769Gly)
c.2443T>G (p.Cys815Gly)
c.2419T>G (p.Cys807Gly)
c.2401T>G (p.Cys801Gly)
c.2371T>G (p.Cys791Gly)
c.2329T>G (p.Cys777Gly)
c.2236T>G (p.Cys746Gly)
c.2248T>G (p.Cys750Gly)
c.2268+26140T>G (n.2268+26140T>G)
15g.27845014A>GCA391358435OCA2c.2377T>C (p.Cys793Arg)
c.2305T>C (p.Cys769Arg)
c.2443T>C (p.Cys815Arg)
c.2419T>C (p.Cys807Arg)
c.2401T>C (p.Cys801Arg)
c.2371T>C (p.Cys791Arg)
c.2329T>C (p.Cys777Arg)
c.2236T>C (p.Cys746Arg)
c.2248T>C (p.Cys750Arg)
c.2268+26140T>C (n.2268+26140T>C)
15g.27845014A>TCA391358438OCA2c.2377T>A (p.Cys793Ser)
c.2305T>A (p.Cys769Ser)
c.2443T>A (p.Cys815Ser)
c.2419T>A (p.Cys807Ser)
c.2401T>A (p.Cys801Ser)
c.2371T>A (p.Cys791Ser)
c.2329T>A (p.Cys777Ser)
c.2236T>A (p.Cys746Ser)
c.2248T>A (p.Cys750Ser)
c.2268+26140T>A (n.2268+26140T>A)
15g.27845015C>ACA488958606OCA2c.2376G>T (p.Val792=)
c.2304G>T (p.Val768=)
c.2442G>T (p.Val814=)
c.2418G>T (p.Val806=)
c.2400G>T (p.Val800=)
c.2370G>T (p.Val790=)
c.2328G>T (p.Val776=)
c.2235G>T (p.Val745=)
c.2247G>T (p.Val749=)
c.2268+26139G>T (n.2268+26139G>T)
15g.27845015C=CA2166337002OCA2c.2376G= (p.Val792=)
c.2304G= (p.Val768=)
c.2442G= (p.Val814=)
c.2418G= (p.Val806=)
c.2400G= (p.Val800=)
c.2370G= (p.Val790=)
c.2328G= (p.Val776=)
c.2235G= (p.Val745=)
c.2247G= (p.Val749=)
c.2268+26139G= (n.2268+26139G=)
15g.27845015C>GCA488958607OCA2c.2376G>C (p.Val792=)
c.2304G>C (p.Val768=)
c.2442G>C (p.Val814=)
c.2418G>C (p.Val806=)
c.2400G>C (p.Val800=)
c.2370G>C (p.Val790=)
c.2328G>C (p.Val776=)
c.2235G>C (p.Val745=)
c.2247G>C (p.Val749=)
c.2268+26139G>C (n.2268+26139G>C)
15g.27845015C>TCA488958608OCA2c.2376G>A (p.Val792=)
c.2304G>A (p.Val768=)
c.2442G>A (p.Val814=)
c.2418G>A (p.Val806=)
c.2400G>A (p.Val800=)
c.2370G>A (p.Val790=)
c.2328G>A (p.Val776=)
c.2235G>A (p.Val745=)
c.2247G>A (p.Val749=)
c.2268+26139G>A (n.2268+26139G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.27845015_27845018delinsCACGCA2166337001OCA2c.2373_2376delinsCGTG (p.Val791=)
c.2301_2304delinsCGTG (p.Val767=)
c.2439_2442delinsCGTG (p.Val813=)
c.2415_2418delinsCGTG (p.Val805=)
c.2397_2400delinsCGTG (p.Val799=)
c.2367_2370delinsCGTG (p.Val789=)
c.2325_2328delinsCGTG (p.Val775=)
c.2232_2235delinsCGTG (p.Val744=)
c.2244_2247delinsCGTG (p.Val748=)
c.2268+26136_2268+26139delinsCGTG (n.2268+26136_2268+26139delinsCGTG)
15g.27845016A>CCA391358440OCA2c.2375T>G (p.Val792Gly)
c.2303T>G (p.Val768Gly)
c.2441T>G (p.Val814Gly)
c.2417T>G (p.Val806Gly)
c.2399T>G (p.Val800Gly)
c.2369T>G (p.Val790Gly)
c.2327T>G (p.Val776Gly)
c.2234T>G (p.Val745Gly)
c.2246T>G (p.Val749Gly)
c.2268+26138T>G (n.2268+26138T>G)
15g.27845016A>GCA391358441OCA2c.2375T>C (p.Val792Ala)
c.2303T>C (p.Val768Ala)
c.2441T>C (p.Val814Ala)
c.2417T>C (p.Val806Ala)
c.2399T>C (p.Val800Ala)
c.2369T>C (p.Val790Ala)
c.2327T>C (p.Val776Ala)
c.2234T>C (p.Val745Ala)
c.2246T>C (p.Val749Ala)
c.2268+26138T>C (n.2268+26138T>C)
15g.27845016A>TCA391358443OCA2c.2375T>A (p.Val792Glu)
c.2303T>A (p.Val768Glu)
c.2441T>A (p.Val814Glu)
c.2417T>A (p.Val806Glu)
c.2399T>A (p.Val800Glu)
c.2369T>A (p.Val790Glu)
c.2327T>A (p.Val776Glu)
c.2234T>A (p.Val745Glu)
c.2246T>A (p.Val749Glu)
c.2268+26138T>A (n.2268+26138T>A)
15g.27845019_27845021delCA616701043OCA2c.2373_2375del (p.Val792del)
c.2301_2303del (p.Val768del)
c.2439_2441del (p.Val814del)
c.2415_2417del (p.Val806del)
c.2397_2399del (p.Val800del)
c.2367_2369del (p.Val790del)
c.2325_2327del (p.Val776del)
c.2232_2234del (p.Val745del)
c.2244_2246del (p.Val749del)
c.2268+26136_2268+26138del (n.2268+26136_2268+26138del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.27845017C>ACA7438589OCA2c.2374G>T (p.Val792Leu)
c.2302G>T (p.Val768Leu)
c.2440G>T (p.Val814Leu)
c.2416G>T (p.Val806Leu)
c.2398G>T (p.Val800Leu)
c.2368G>T (p.Val790Leu)
c.2326G>T (p.Val776Leu)
c.2233G>T (p.Val745Leu)
c.2245G>T (p.Val749Leu)
c.2268+26137G>T (n.2268+26137G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
15g.27845017C=CA2166337008OCA2c.2374G= (p.Val792=)
c.2302G= (p.Val768=)
c.2440G= (p.Val814=)
c.2416G= (p.Val806=)
c.2398G= (p.Val800=)
c.2368G= (p.Val790=)
c.2326G= (p.Val776=)
c.2233G= (p.Val745=)
c.2245G= (p.Val749=)
c.2268+26137G= (n.2268+26137G=)
15g.27845017C>GCA391358447OCA2c.2374G>C (p.Val792Leu)
c.2302G>C (p.Val768Leu)
c.2440G>C (p.Val814Leu)
c.2416G>C (p.Val806Leu)
c.2398G>C (p.Val800Leu)
c.2368G>C (p.Val790Leu)
c.2326G>C (p.Val776Leu)
c.2233G>C (p.Val745Leu)
c.2245G>C (p.Val749Leu)
c.2268+26137G>C (n.2268+26137G>C)
15g.27845017C>TCA7438588OCA2c.2374G>A (p.Val792Met)
c.2302G>A (p.Val768Met)
c.2440G>A (p.Val814Met)
c.2416G>A (p.Val806Met)
c.2398G>A (p.Val800Met)
c.2368G>A (p.Val790Met)
c.2326G>A (p.Val776Met)
c.2233G>A (p.Val745Met)
c.2245G>A (p.Val749Met)
c.2268+26137G>A (n.2268+26137G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27845018G>ACA488958609OCA2c.2373C>T (p.Val791=)
c.2301C>T (p.Val767=)
c.2439C>T (p.Val813=)
c.2415C>T (p.Val805=)
c.2397C>T (p.Val799=)
c.2367C>T (p.Val789=)
c.2325C>T (p.Val775=)
c.2232C>T (p.Val744=)
c.2244C>T (p.Val748=)
c.2268+26136C>T (n.2268+26136C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.27845018G>CCA7438590OCA2c.2373C>G (p.Val791=)
c.2301C>G (p.Val767=)
c.2439C>G (p.Val813=)
c.2415C>G (p.Val805=)
c.2397C>G (p.Val799=)
c.2367C>G (p.Val789=)
c.2325C>G (p.Val775=)
c.2232C>G (p.Val744=)
c.2244C>G (p.Val748=)
c.2268+26136C>G (n.2268+26136C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27845018G=CA2166337013OCA2c.2373C= (p.Val791=)
c.2301C= (p.Val767=)
c.2439C= (p.Val813=)
c.2415C= (p.Val805=)
c.2397C= (p.Val799=)
c.2367C= (p.Val789=)
c.2325C= (p.Val775=)
c.2232C= (p.Val744=)
c.2244C= (p.Val748=)
c.2268+26136C= (n.2268+26136C=)
15g.27845018G>TCA488958610OCA2c.2373C>A (p.Val791=)
c.2301C>A (p.Val767=)
c.2439C>A (p.Val813=)
c.2415C>A (p.Val805=)
c.2397C>A (p.Val799=)
c.2367C>A (p.Val789=)
c.2325C>A (p.Val775=)
c.2232C>A (p.Val744=)
c.2244C>A (p.Val748=)
c.2268+26136C>A (n.2268+26136C>A)
15g.27845018_27845019delCA2695219904OCA2c.2372_2373del (p.Val791GlyfsTer?)
c.2300_2301del (p.Val767GlyfsTer?)
c.2438_2439del (p.Val813GlyfsTer?)
c.2414_2415del (p.Val805GlyfsTer?)
c.2396_2397del (p.Val799GlyfsTer?)
c.2366_2367del (p.Val789GlyfsTer?)
c.2324_2325del (p.Val775GlyfsTer?)
c.2231_2232del (p.Val744GlyfsTer?)
c.2243_2244del (p.Val748GlyfsTer?)
c.2268+26135_2268+26136del (n.2268+26135_2268+26136del)
15g.27845019A=CA2166337020OCA2c.2372T= (p.Val791=)
c.2300T= (p.Val767=)
c.2438T= (p.Val813=)
c.2414T= (p.Val805=)
c.2396T= (p.Val799=)
c.2366T= (p.Val789=)
c.2324T= (p.Val775=)
c.2231T= (p.Val744=)
c.2243T= (p.Val748=)
c.2268+26135T= (n.2268+26135T=)
15g.27845019A>CCA391358451OCA2c.2372T>G (p.Val791Gly)
c.2300T>G (p.Val767Gly)
c.2438T>G (p.Val813Gly)
c.2414T>G (p.Val805Gly)
c.2396T>G (p.Val799Gly)
c.2366T>G (p.Val789Gly)
c.2324T>G (p.Val775Gly)
c.2231T>G (p.Val744Gly)
c.2243T>G (p.Val748Gly)
c.2268+26135T>G (n.2268+26135T>G)
15g.27845019A>GCA391358453OCA2c.2372T>C (p.Val791Ala)
c.2300T>C (p.Val767Ala)
c.2438T>C (p.Val813Ala)
c.2414T>C (p.Val805Ala)
c.2396T>C (p.Val799Ala)
c.2366T>C (p.Val789Ala)
c.2324T>C (p.Val775Ala)
c.2231T>C (p.Val744Ala)
c.2243T>C (p.Val748Ala)
c.2268+26135T>C (n.2268+26135T>C)
 dbSNP gnomAD v2 gnomAD v4
15g.27845019A>TCA391358455OCA2c.2372T>A (p.Val791Asp)
c.2300T>A (p.Val767Asp)
c.2438T>A (p.Val813Asp)
c.2414T>A (p.Val805Asp)
c.2396T>A (p.Val799Asp)
c.2366T>A (p.Val789Asp)
c.2324T>A (p.Val775Asp)
c.2231T>A (p.Val744Asp)
c.2243T>A (p.Val748Asp)
c.2268+26135T>A (n.2268+26135T>A)
15g.27845020C>ACA391358457OCA2c.2371G>T (p.Val791Phe)
c.2299G>T (p.Val767Phe)
c.2437G>T (p.Val813Phe)
c.2413G>T (p.Val805Phe)
c.2395G>T (p.Val799Phe)
c.2365G>T (p.Val789Phe)
c.2323G>T (p.Val775Phe)
c.2230G>T (p.Val744Phe)
c.2242G>T (p.Val748Phe)
c.2268+26134G>T (n.2268+26134G>T)
 dbSNP
15g.27845020C=CA2166337026OCA2c.2371G= (p.Val791=)
c.2299G= (p.Val767=)
c.2437G= (p.Val813=)
c.2413G= (p.Val805=)
c.2395G= (p.Val799=)
c.2365G= (p.Val789=)
c.2323G= (p.Val775=)
c.2230G= (p.Val744=)
c.2242G= (p.Val748=)
c.2268+26134G= (n.2268+26134G=)
15g.27845020C>GCA391358459OCA2c.2371G>C (p.Val791Leu)
c.2299G>C (p.Val767Leu)
c.2437G>C (p.Val813Leu)
c.2413G>C (p.Val805Leu)
c.2395G>C (p.Val799Leu)
c.2365G>C (p.Val789Leu)
c.2323G>C (p.Val775Leu)
c.2230G>C (p.Val744Leu)
c.2242G>C (p.Val748Leu)
c.2268+26134G>C (n.2268+26134G>C)
15g.27845020C>TCA7438591OCA2c.2371G>A (p.Val791Ile)
c.2299G>A (p.Val767Ile)
c.2437G>A (p.Val813Ile)
c.2413G>A (p.Val805Ile)
c.2395G>A (p.Val799Ile)
c.2365G>A (p.Val789Ile)
c.2323G>A (p.Val775Ile)
c.2230G>A (p.Val744Ile)
c.2242G>A (p.Val748Ile)
c.2268+26134G>A (n.2268+26134G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27845021G>ACA7438592OCA2c.2370C>T (p.Asn790=)
c.2298C>T (p.Asn766=)
c.2436C>T (p.Asn812=)
c.2412C>T (p.Asn804=)
c.2394C>T (p.Asn798=)
c.2364C>T (p.Asn788=)
c.2322C>T (p.Asn774=)
c.2229C>T (p.Asn743=)
c.2241C>T (p.Asn747=)
c.2268+26133C>T (n.2268+26133C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.27845021G>CCA391358464OCA2c.2370C>G (p.Asn790Lys)
c.2298C>G (p.Asn766Lys)
c.2436C>G (p.Asn812Lys)
c.2412C>G (p.Asn804Lys)
c.2394C>G (p.Asn798Lys)
c.2364C>G (p.Asn788Lys)
c.2322C>G (p.Asn774Lys)
c.2229C>G (p.Asn743Lys)
c.2241C>G (p.Asn747Lys)
c.2268+26133C>G (n.2268+26133C>G)
15g.27845021G=CA2166337032OCA2c.2370C= (p.Asn790=)
c.2298C= (p.Asn766=)
c.2436C= (p.Asn812=)
c.2412C= (p.Asn804=)
c.2394C= (p.Asn798=)
c.2364C= (p.Asn788=)
c.2322C= (p.Asn774=)
c.2229C= (p.Asn743=)
c.2241C= (p.Asn747=)
c.2268+26133C= (n.2268+26133C=)
15g.27845021G>TCA391358462OCA2c.2370C>A (p.Asn790Lys)
c.2298C>A (p.Asn766Lys)
c.2436C>A (p.Asn812Lys)
c.2412C>A (p.Asn804Lys)
c.2394C>A (p.Asn798Lys)
c.2364C>A (p.Asn788Lys)
c.2322C>A (p.Asn774Lys)
c.2229C>A (p.Asn743Lys)
c.2241C>A (p.Asn747Lys)
c.2268+26133C>A (n.2268+26133C>A)
15g.27845022T>ACA391358466OCA2c.2369A>T (p.Asn790Ile)
c.2297A>T (p.Asn766Ile)
c.2435A>T (p.Asn812Ile)
c.2411A>T (p.Asn804Ile)
c.2393A>T (p.Asn798Ile)
c.2363A>T (p.Asn788Ile)
c.2321A>T (p.Asn774Ile)
c.2228A>T (p.Asn743Ile)
c.2240A>T (p.Asn747Ile)
c.2268+26132A>T (n.2268+26132A>T)
15g.27845022T>CCA391358468OCA2c.2369A>G (p.Asn790Ser)
c.2297A>G (p.Asn766Ser)
c.2435A>G (p.Asn812Ser)
c.2411A>G (p.Asn804Ser)
c.2393A>G (p.Asn798Ser)
c.2363A>G (p.Asn788Ser)
c.2321A>G (p.Asn774Ser)
c.2228A>G (p.Asn743Ser)
c.2240A>G (p.Asn747Ser)
c.2268+26132A>G (n.2268+26132A>G)
15g.27845022T>GCA391358470OCA2c.2369A>C (p.Asn790Thr)
c.2297A>C (p.Asn766Thr)
c.2435A>C (p.Asn812Thr)
c.2411A>C (p.Asn804Thr)
c.2393A>C (p.Asn798Thr)
c.2363A>C (p.Asn788Thr)
c.2321A>C (p.Asn774Thr)
c.2228A>C (p.Asn743Thr)
c.2240A>C (p.Asn747Thr)
c.2268+26132A>C (n.2268+26132A>C)
15g.27845023T>ACA391358472OCA2c.2368A>T (p.Asn790Tyr)
c.2296A>T (p.Asn766Tyr)
c.2434A>T (p.Asn812Tyr)
c.2410A>T (p.Asn804Tyr)
c.2392A>T (p.Asn798Tyr)
c.2362A>T (p.Asn788Tyr)
c.2320A>T (p.Asn774Tyr)
c.2227A>T (p.Asn743Tyr)
c.2239A>T (p.Asn747Tyr)
c.2268+26131A>T (n.2268+26131A>T)
15g.27845023T>CCA391358474OCA2c.2368A>G (p.Asn790Asp)
c.2296A>G (p.Asn766Asp)
c.2434A>G (p.Asn812Asp)
c.2410A>G (p.Asn804Asp)
c.2392A>G (p.Asn798Asp)
c.2362A>G (p.Asn788Asp)
c.2320A>G (p.Asn774Asp)
c.2227A>G (p.Asn743Asp)
c.2239A>G (p.Asn747Asp)
c.2268+26131A>G (n.2268+26131A>G)
15g.27845023T>GCA391358476OCA2c.2368A>C (p.Asn790His)
c.2296A>C (p.Asn766His)
c.2434A>C (p.Asn812His)
c.2410A>C (p.Asn804His)
c.2392A>C (p.Asn798His)
c.2362A>C (p.Asn788His)
c.2320A>C (p.Asn774His)
c.2227A>C (p.Asn743His)
c.2239A>C (p.Asn747His)
c.2268+26131A>C (n.2268+26131A>C)
 dbSNP gnomAD v2 gnomAD v4
15g.27845023T=CA2166337036OCA2c.2368A= (p.Asn790=)
c.2296A= (p.Asn766=)
c.2434A= (p.Asn812=)
c.2410A= (p.Asn804=)
c.2392A= (p.Asn798=)
c.2362A= (p.Asn788=)
c.2320A= (p.Asn774=)
c.2227A= (p.Asn743=)
c.2239A= (p.Asn747=)
c.2268+26131A= (n.2268+26131A=)
15g.27845024T>ACA488958613OCA2c.2367A>T (p.Ala789=)
c.2295A>T (p.Ala765=)
c.2433A>T (p.Ala811=)
c.2409A>T (p.Ala803=)
c.2391A>T (p.Ala797=)
c.2361A>T (p.Ala787=)
c.2319A>T (p.Ala773=)
c.2226A>T (p.Ala742=)
c.2238A>T (p.Ala746=)
c.2268+26130A>T (n.2268+26130A>T)
15g.27845024T>CCA488958616OCA2c.2367A>G (p.Ala789=)
c.2295A>G (p.Ala765=)
c.2433A>G (p.Ala811=)
c.2409A>G (p.Ala803=)
c.2391A>G (p.Ala797=)
c.2361A>G (p.Ala787=)
c.2319A>G (p.Ala773=)
c.2226A>G (p.Ala742=)
c.2238A>G (p.Ala746=)
c.2268+26130A>G (n.2268+26130A>G)
15g.27845024T>GCA488958615OCA2c.2367A>C (p.Ala789=)
c.2295A>C (p.Ala765=)
c.2433A>C (p.Ala811=)
c.2409A>C (p.Ala803=)
c.2391A>C (p.Ala797=)
c.2361A>C (p.Ala787=)
c.2319A>C (p.Ala773=)
c.2226A>C (p.Ala742=)
c.2238A>C (p.Ala746=)
c.2268+26130A>C (n.2268+26130A>C)
15g.27845025G>ACA391358478OCA2c.2366C>T (p.Ala789Val)
c.2294C>T (p.Ala765Val)
c.2432C>T (p.Ala811Val)
c.2408C>T (p.Ala803Val)
c.2390C>T (p.Ala797Val)
c.2360C>T (p.Ala787Val)
c.2318C>T (p.Ala773Val)
c.2225C>T (p.Ala742Val)
c.2237C>T (p.Ala746Val)
c.2268+26129C>T (n.2268+26129C>T)
15g.27845025G>CCA391358480OCA2c.2366C>G (p.Ala789Gly)
c.2294C>G (p.Ala765Gly)
c.2432C>G (p.Ala811Gly)
c.2408C>G (p.Ala803Gly)
c.2390C>G (p.Ala797Gly)
c.2360C>G (p.Ala787Gly)
c.2318C>G (p.Ala773Gly)
c.2225C>G (p.Ala742Gly)
c.2237C>G (p.Ala746Gly)
c.2268+26129C>G (n.2268+26129C>G)
15g.27845025G>TCA391358482OCA2c.2366C>A (p.Ala789Glu)
c.2294C>A (p.Ala765Glu)
c.2432C>A (p.Ala811Glu)
c.2408C>A (p.Ala803Glu)
c.2390C>A (p.Ala797Glu)
c.2360C>A (p.Ala787Glu)
c.2318C>A (p.Ala773Glu)
c.2225C>A (p.Ala742Glu)
c.2237C>A (p.Ala746Glu)
c.2268+26129C>A (n.2268+26129C>A)
15g.27845026C>ACA391358484OCA2c.2365G>T (p.Ala789Ser)
c.2293G>T (p.Ala765Ser)
c.2431G>T (p.Ala811Ser)
c.2407G>T (p.Ala803Ser)
c.2389G>T (p.Ala797Ser)
c.2359G>T (p.Ala787Ser)
c.2317G>T (p.Ala773Ser)
c.2224G>T (p.Ala742Ser)
c.2236G>T (p.Ala746Ser)
c.2268+26128G>T (n.2268+26128G>T)
15g.27845026C=CA2166337038OCA2c.2365G= (p.Ala789=)
c.2293G= (p.Ala765=)
c.2431G= (p.Ala811=)
c.2407G= (p.Ala803=)
c.2389G= (p.Ala797=)
c.2359G= (p.Ala787=)
c.2317G= (p.Ala773=)
c.2224G= (p.Ala742=)
c.2236G= (p.Ala746=)
c.2268+26128G= (n.2268+26128G=)
15g.27845026C>GCA391358486OCA2c.2365G>C (p.Ala789Pro)
c.2293G>C (p.Ala765Pro)
c.2431G>C (p.Ala811Pro)
c.2407G>C (p.Ala803Pro)
c.2389G>C (p.Ala797Pro)
c.2359G>C (p.Ala787Pro)
c.2317G>C (p.Ala773Pro)
c.2224G>C (p.Ala742Pro)
c.2236G>C (p.Ala746Pro)
c.2268+26128G>C (n.2268+26128G>C)
15g.27845026C>TCA7438593OCA2c.2365G>A (p.Ala789Thr)
c.2293G>A (p.Ala765Thr)
c.2431G>A (p.Ala811Thr)
c.2407G>A (p.Ala803Thr)
c.2389G>A (p.Ala797Thr)
c.2359G>A (p.Ala787Thr)
c.2317G>A (p.Ala773Thr)
c.2224G>A (p.Ala742Thr)
c.2236G>A (p.Ala746Thr)
c.2268+26128G>A (n.2268+26128G>A)
 dbSNP ExAC gnomAD v3 gnomAD v4
15g.27845027C>ACA488958617OCA2c.2364G>T (p.Ser788=)
c.2292G>T (p.Ser764=)
c.2430G>T (p.Ser810=)
c.2406G>T (p.Ser802=)
c.2388G>T (p.Ser796=)
c.2358G>T (p.Ser786=)
c.2316G>T (p.Ser772=)
c.2223G>T (p.Ser741=)
c.2235G>T (p.Ser745=)
c.2268+26127G>T (n.2268+26127G>T)
15g.27845027C=CA2166337046OCA2c.2364G= (p.Ser788=)
c.2292G= (p.Ser764=)
c.2430G= (p.Ser810=)
c.2406G= (p.Ser802=)
c.2388G= (p.Ser796=)
c.2358G= (p.Ser786=)
c.2316G= (p.Ser772=)
c.2223G= (p.Ser741=)
c.2235G= (p.Ser745=)
c.2268+26127G= (n.2268+26127G=)
15g.27845027C>GCA488958618OCA2c.2364G>C (p.Ser788=)
c.2292G>C (p.Ser764=)
c.2430G>C (p.Ser810=)
c.2406G>C (p.Ser802=)
c.2388G>C (p.Ser796=)
c.2358G>C (p.Ser786=)
c.2316G>C (p.Ser772=)
c.2223G>C (p.Ser741=)
c.2235G>C (p.Ser745=)
c.2268+26127G>C (n.2268+26127G>C)
15g.27845027C>TCA7438594OCA2c.2364G>A (p.Ser788=)
c.2292G>A (p.Ser764=)
c.2430G>A (p.Ser810=)
c.2406G>A (p.Ser802=)
c.2388G>A (p.Ser796=)
c.2358G>A (p.Ser786=)
c.2316G>A (p.Ser772=)
c.2223G>A (p.Ser741=)
c.2235G>A (p.Ser745=)
c.2268+26127G>A (n.2268+26127G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27845028G>ACA7438595OCA2c.2363C>T (p.Ser788Leu)
c.2291C>T (p.Ser764Leu)
c.2429C>T (p.Ser810Leu)
c.2405C>T (p.Ser802Leu)
c.2387C>T (p.Ser796Leu)
c.2357C>T (p.Ser786Leu)
c.2315C>T (p.Ser772Leu)
c.2222C>T (p.Ser741Leu)
c.2234C>T (p.Ser745Leu)
c.2268+26126C>T (n.2268+26126C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27845028G>CCA391358490OCA2c.2363C>G (p.Ser788Trp)
c.2291C>G (p.Ser764Trp)
c.2429C>G (p.Ser810Trp)
c.2405C>G (p.Ser802Trp)
c.2387C>G (p.Ser796Trp)
c.2357C>G (p.Ser786Trp)
c.2315C>G (p.Ser772Trp)
c.2222C>G (p.Ser741Trp)
c.2234C>G (p.Ser745Trp)
c.2268+26126C>G (n.2268+26126C>G)
15g.27845028G=CA2166337055OCA2c.2363C= (p.Ser788=)
c.2291C= (p.Ser764=)
c.2429C= (p.Ser810=)
c.2405C= (p.Ser802=)
c.2387C= (p.Ser796=)
c.2357C= (p.Ser786=)
c.2315C= (p.Ser772=)
c.2222C= (p.Ser741=)
c.2234C= (p.Ser745=)
c.2268+26126C= (n.2268+26126C=)
15g.27845028G>TCA391358491OCA2c.2363C>A (p.Ser788Ter)
c.2291C>A (p.Ser764Ter)
c.2429C>A (p.Ser810Ter)
c.2405C>A (p.Ser802Ter)
c.2387C>A (p.Ser796Ter)
c.2357C>A (p.Ser786Ter)
c.2315C>A (p.Ser772Ter)
c.2222C>A (p.Ser741Ter)
c.2234C>A (p.Ser745Ter)
c.2268+26126C>A (n.2268+26126C>A)
15g.27845029A>CCA391358493OCA2c.2362T>G (p.Ser788Ala)
c.2290T>G (p.Ser764Ala)
c.2428T>G (p.Ser810Ala)
c.2404T>G (p.Ser802Ala)
c.2386T>G (p.Ser796Ala)
c.2356T>G (p.Ser786Ala)
c.2314T>G (p.Ser772Ala)
c.2221T>G (p.Ser741Ala)
c.2233T>G (p.Ser745Ala)
c.2268+26125T>G (n.2268+26125T>G)
15g.27845029A>GCA391358495OCA2c.2362T>C (p.Ser788Pro)
c.2290T>C (p.Ser764Pro)
c.2428T>C (p.Ser810Pro)
c.2404T>C (p.Ser802Pro)
c.2386T>C (p.Ser796Pro)
c.2356T>C (p.Ser786Pro)
c.2314T>C (p.Ser772Pro)
c.2221T>C (p.Ser741Pro)
c.2233T>C (p.Ser745Pro)
c.2268+26125T>C (n.2268+26125T>C)
15g.27845029A>TCA391358497OCA2c.2362T>A (p.Ser788Thr)
c.2290T>A (p.Ser764Thr)
c.2428T>A (p.Ser810Thr)
c.2404T>A (p.Ser802Thr)
c.2386T>A (p.Ser796Thr)
c.2356T>A (p.Ser786Thr)
c.2314T>A (p.Ser772Thr)
c.2221T>A (p.Ser741Thr)
c.2233T>A (p.Ser745Thr)
c.2268+26125T>A (n.2268+26125T>A)
15g.27845030C>ACA488958619OCA2c.2361G>T (p.Ala787=)
c.2289G>T (p.Ala763=)
c.2427G>T (p.Ala809=)
c.2403G>T (p.Ala801=)
c.2385G>T (p.Ala795=)
c.2355G>T (p.Ala785=)
c.2313G>T (p.Ala771=)
c.2220G>T (p.Ala740=)
c.2232G>T (p.Ala744=)
c.2268+26124G>T (n.2268+26124G>T)
 gnomAD v4
15g.27845030C=CA2166337065OCA2c.2361G= (p.Ala787=)
c.2289G= (p.Ala763=)
c.2427G= (p.Ala809=)
c.2403G= (p.Ala801=)
c.2385G= (p.Ala795=)
c.2355G= (p.Ala785=)
c.2313G= (p.Ala771=)
c.2220G= (p.Ala740=)
c.2232G= (p.Ala744=)
c.2268+26124G= (n.2268+26124G=)
15g.27845030C>GCA488958620OCA2c.2361G>C (p.Ala787=)
c.2289G>C (p.Ala763=)
c.2427G>C (p.Ala809=)
c.2403G>C (p.Ala801=)
c.2385G>C (p.Ala795=)
c.2355G>C (p.Ala785=)
c.2313G>C (p.Ala771=)
c.2220G>C (p.Ala740=)
c.2232G>C (p.Ala744=)
c.2268+26124G>C (n.2268+26124G>C)
 ClinVar gnomAD v4
15g.27845030C>TCA7438596OCA2c.2361G>A (p.Ala787=)
c.2289G>A (p.Ala763=)
c.2427G>A (p.Ala809=)
c.2403G>A (p.Ala801=)
c.2385G>A (p.Ala795=)
c.2355G>A (p.Ala785=)
c.2313G>A (p.Ala771=)
c.2220G>A (p.Ala740=)
c.2232G>A (p.Ala744=)
c.2268+26124G>A (n.2268+26124G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27845031G>ACA7438597OCA2c.2360C>T (p.Ala787Val)
c.2288C>T (p.Ala763Val)
c.2426C>T (p.Ala809Val)
c.2402C>T (p.Ala801Val)
c.2384C>T (p.Ala795Val)
c.2354C>T (p.Ala785Val)
c.2312C>T (p.Ala771Val)
c.2219C>T (p.Ala740Val)
c.2231C>T (p.Ala744Val)
c.2268+26123C>T (n.2268+26123C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.27845031G>CCA391358502OCA2c.2360C>G (p.Ala787Gly)
c.2288C>G (p.Ala763Gly)
c.2426C>G (p.Ala809Gly)
c.2402C>G (p.Ala801Gly)
c.2384C>G (p.Ala795Gly)
c.2354C>G (p.Ala785Gly)
c.2312C>G (p.Ala771Gly)
c.2219C>G (p.Ala740Gly)
c.2231C>G (p.Ala744Gly)
c.2268+26123C>G (n.2268+26123C>G)
15g.27845031G=CA2166337076OCA2c.2360C= (p.Ala787=)
c.2288C= (p.Ala763=)
c.2426C= (p.Ala809=)
c.2402C= (p.Ala801=)
c.2384C= (p.Ala795=)
c.2354C= (p.Ala785=)
c.2312C= (p.Ala771=)
c.2219C= (p.Ala740=)
c.2231C= (p.Ala744=)
c.2268+26123C= (n.2268+26123C=)
15g.27845031G>TCA391358504OCA2c.2360C>A (p.Ala787Glu)
c.2288C>A (p.Ala763Glu)
c.2426C>A (p.Ala809Glu)
c.2402C>A (p.Ala801Glu)
c.2384C>A (p.Ala795Glu)
c.2354C>A (p.Ala785Glu)
c.2312C>A (p.Ala771Glu)
c.2219C>A (p.Ala740Glu)
c.2231C>A (p.Ala744Glu)
c.2268+26123C>A (n.2268+26123C>A)
 ClinVar dbSNP
15g.27845032C>ACA391358506OCA2c.2359G>T (p.Ala787Ser)
c.2287G>T (p.Ala763Ser)
c.2425G>T (p.Ala809Ser)
c.2401G>T (p.Ala801Ser)
c.2383G>T (p.Ala795Ser)
c.2353G>T (p.Ala785Ser)
c.2311G>T (p.Ala771Ser)
c.2218G>T (p.Ala740Ser)
c.2230G>T (p.Ala744Ser)
c.2268+26122G>T (n.2268+26122G>T)
15g.27845032C=CA2166337085OCA2c.2359G= (p.Ala787=)
c.2287G= (p.Ala763=)
c.2425G= (p.Ala809=)
c.2401G= (p.Ala801=)
c.2383G= (p.Ala795=)
c.2353G= (p.Ala785=)
c.2311G= (p.Ala771=)
c.2218G= (p.Ala740=)
c.2230G= (p.Ala744=)
c.2268+26122G= (n.2268+26122G=)
15g.27845032C>GCA391358508OCA2c.2359G>C (p.Ala787Pro)
c.2287G>C (p.Ala763Pro)
c.2425G>C (p.Ala809Pro)
c.2401G>C (p.Ala801Pro)
c.2383G>C (p.Ala795Pro)
c.2353G>C (p.Ala785Pro)
c.2311G>C (p.Ala771Pro)
c.2218G>C (p.Ala740Pro)
c.2230G>C (p.Ala744Pro)
c.2268+26122G>C (n.2268+26122G>C)
15g.27845032C>TCA7438598OCA2c.2359G>A (p.Ala787Thr)
c.2287G>A (p.Ala763Thr)
c.2425G>A (p.Ala809Thr)
c.2401G>A (p.Ala801Thr)
c.2383G>A (p.Ala795Thr)
c.2353G>A (p.Ala785Thr)
c.2311G>A (p.Ala771Thr)
c.2218G>A (p.Ala740Thr)
c.2230G>A (p.Ala744Thr)
c.2268+26122G>A (n.2268+26122G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.27845033G>ACA7438599OCA2c.2358C>T (p.Gly786=)
c.2286C>T (p.Gly762=)
c.2424C>T (p.Gly808=)
c.2400C>T (p.Gly800=)
c.2382C>T (p.Gly794=)
c.2352C>T (p.Gly784=)
c.2310C>T (p.Gly770=)
c.2217C>T (p.Gly739=)
c.2229C>T (p.Gly743=)
c.2268+26121C>T (n.2268+26121C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.27845033G>CCA488958621OCA2c.2358C>G (p.Gly786=)
c.2286C>G (p.Gly762=)
c.2424C>G (p.Gly808=)
c.2400C>G (p.Gly800=)
c.2382C>G (p.Gly794=)
c.2352C>G (p.Gly784=)
c.2310C>G (p.Gly770=)
c.2217C>G (p.Gly739=)
c.2229C>G (p.Gly743=)
c.2268+26121C>G (n.2268+26121C>G)
15g.27845033G=CA2166337090OCA2c.2358C= (p.Gly786=)
c.2286C= (p.Gly762=)
c.2424C= (p.Gly808=)
c.2400C= (p.Gly800=)
c.2382C= (p.Gly794=)
c.2352C= (p.Gly784=)
c.2310C= (p.Gly770=)
c.2217C= (p.Gly739=)
c.2229C= (p.Gly743=)
c.2268+26121C= (n.2268+26121C=)
15g.27845033G>TCA488958622OCA2c.2358C>A (p.Gly786=)
c.2286C>A (p.Gly762=)
c.2424C>A (p.Gly808=)
c.2400C>A (p.Gly800=)
c.2382C>A (p.Gly794=)
c.2352C>A (p.Gly784=)
c.2310C>A (p.Gly770=)
c.2217C>A (p.Gly739=)
c.2229C>A (p.Gly743=)
c.2268+26121C>A (n.2268+26121C>A)
 gnomAD v4
15g.27845034C>ACA391358511OCA2c.2357G>T (p.Gly786Val)
c.2285G>T (p.Gly762Val)
c.2423G>T (p.Gly808Val)
c.2399G>T (p.Gly800Val)
c.2381G>T (p.Gly794Val)
c.2351G>T (p.Gly784Val)
c.2309G>T (p.Gly770Val)
c.2216G>T (p.Gly739Val)
c.2228G>T (p.Gly743Val)
c.2268+26120G>T (n.2268+26120G>T)
 gnomAD v4
15g.27845034C=CA2166337096OCA2c.2357G= (p.Gly786=)
c.2285G= (p.Gly762=)
c.2423G= (p.Gly808=)
c.2399G= (p.Gly800=)
c.2381G= (p.Gly794=)
c.2351G= (p.Gly784=)
c.2309G= (p.Gly770=)
c.2216G= (p.Gly739=)
c.2228G= (p.Gly743=)
c.2268+26120G= (n.2268+26120G=)
15g.27845034C>GCA391358514OCA2c.2357G>C (p.Gly786Ala)
c.2285G>C (p.Gly762Ala)
c.2423G>C (p.Gly808Ala)
c.2399G>C (p.Gly800Ala)
c.2381G>C (p.Gly794Ala)
c.2351G>C (p.Gly784Ala)
c.2309G>C (p.Gly770Ala)
c.2216G>C (p.Gly739Ala)
c.2228G>C (p.Gly743Ala)
c.2268+26120G>C (n.2268+26120G>C)
15g.27845034C>TCA7438600OCA2c.2357G>A (p.Gly786Asp)
c.2285G>A (p.Gly762Asp)
c.2423G>A (p.Gly808Asp)
c.2399G>A (p.Gly800Asp)
c.2381G>A (p.Gly794Asp)
c.2351G>A (p.Gly784Asp)
c.2309G>A (p.Gly770Asp)
c.2216G>A (p.Gly739Asp)
c.2228G>A (p.Gly743Asp)
c.2268+26120G>A (n.2268+26120G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.27845034_27845038delinsCCAATCA2166337097OCA2c.2353_2357delinsATTGG (p.Ile785=)
c.2281_2285delinsATTGG (p.Ile761=)
c.2419_2423delinsATTGG (p.Ile807=)
c.2395_2399delinsATTGG (p.Ile799=)
c.2377_2381delinsATTGG (p.Ile793=)
c.2347_2351delinsATTGG (p.Ile783=)
c.2305_2309delinsATTGG (p.Ile769=)
c.2212_2216delinsATTGG (p.Ile738=)
c.2224_2228delinsATTGG (p.Ile742=)
c.2268+26116_2268+26120delinsATTGG (n.2268+26116_2268+26120delinsATTGG)
15g.27845035C>ACA391358516OCA2c.2356G>T (p.Gly786Cys)
c.2284G>T (p.Gly762Cys)
c.2422G>T (p.Gly808Cys)
c.2398G>T (p.Gly800Cys)
c.2380G>T (p.Gly794Cys)
c.2350G>T (p.Gly784Cys)
c.2308G>T (p.Gly770Cys)
c.2215G>T (p.Gly739Cys)
c.2227G>T (p.Gly743Cys)
c.2268+26119G>T (n.2268+26119G>T)
15g.27845035C>GCA391358519OCA2c.2356G>C (p.Gly786Arg)
c.2284G>C (p.Gly762Arg)
c.2422G>C (p.Gly808Arg)
c.2398G>C (p.Gly800Arg)
c.2380G>C (p.Gly794Arg)
c.2350G>C (p.Gly784Arg)
c.2308G>C (p.Gly770Arg)
c.2215G>C (p.Gly739Arg)
c.2227G>C (p.Gly743Arg)
c.2268+26119G>C (n.2268+26119G>C)
15g.27845035C>TCA391358522OCA2c.2356G>A (p.Gly786Ser)
c.2284G>A (p.Gly762Ser)
c.2422G>A (p.Gly808Ser)
c.2398G>A (p.Gly800Ser)
c.2380G>A (p.Gly794Ser)
c.2350G>A (p.Gly784Ser)
c.2308G>A (p.Gly770Ser)
c.2215G>A (p.Gly739Ser)
c.2227G>A (p.Gly743Ser)
c.2268+26119G>A (n.2268+26119G>A)
15g.27845037_27845040delCA7438601OCA2c.2353_2356del (p.Ile785AlafsTer?)
c.2281_2284del (p.Ile761AlafsTer?)
c.2419_2422del (p.Ile807AlafsTer?)
c.2395_2398del (p.Ile799AlafsTer?)
c.2377_2380del (p.Ile793AlafsTer?)
c.2347_2350del (p.Ile783AlafsTer?)
c.2305_2308del (p.Ile769AlafsTer?)
c.2212_2215del (p.Ile738AlafsTer?)
c.2224_2227del (p.Ile742AlafsTer?)
c.2268+26116_2268+26119del (n.2268+26116_2268+26119del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27845036A=CA2166337105OCA2c.2355T= (p.Ile785=)
c.2283T= (p.Ile761=)
c.2421T= (p.Ile807=)
c.2397T= (p.Ile799=)
c.2379T= (p.Ile793=)
c.2349T= (p.Ile783=)
c.2307T= (p.Ile769=)
c.2214T= (p.Ile738=)
c.2226T= (p.Ile742=)
c.2268+26118T= (n.2268+26118T=)
15g.27845036A>CCA391358526OCA2c.2355T>G (p.Ile785Met)
c.2283T>G (p.Ile761Met)
c.2421T>G (p.Ile807Met)
c.2397T>G (p.Ile799Met)
c.2379T>G (p.Ile793Met)
c.2349T>G (p.Ile783Met)
c.2307T>G (p.Ile769Met)
c.2214T>G (p.Ile738Met)
c.2226T>G (p.Ile742Met)
c.2268+26118T>G (n.2268+26118T>G)
15g.27845036A>GCA7438602OCA2c.2355T>C (p.Ile785=)
c.2283T>C (p.Ile761=)
c.2421T>C (p.Ile807=)
c.2397T>C (p.Ile799=)
c.2379T>C (p.Ile793=)
c.2349T>C (p.Ile783=)
c.2307T>C (p.Ile769=)
c.2214T>C (p.Ile738=)
c.2226T>C (p.Ile742=)
c.2268+26118T>C (n.2268+26118T>C)
 ClinVar dbSNP ExAC gnomAD v2
15g.27845036A>TCA488958623OCA2c.2355T>A (p.Ile785=)
c.2283T>A (p.Ile761=)
c.2421T>A (p.Ile807=)
c.2397T>A (p.Ile799=)
c.2379T>A (p.Ile793=)
c.2349T>A (p.Ile783=)
c.2307T>A (p.Ile769=)
c.2214T>A (p.Ile738=)
c.2226T>A (p.Ile742=)
c.2268+26118T>A (n.2268+26118T>A)
15g.27845037A=CA2166337109OCA2c.2354T= (p.Ile785=)
c.2282T= (p.Ile761=)
c.2420T= (p.Ile807=)
c.2396T= (p.Ile799=)
c.2378T= (p.Ile793=)
c.2348T= (p.Ile783=)
c.2306T= (p.Ile769=)
c.2213T= (p.Ile738=)
c.2225T= (p.Ile742=)
c.2268+26117T= (n.2268+26117T=)
15g.27845037A>CCA391358529OCA2c.2354T>G (p.Ile785Ser)
c.2282T>G (p.Ile761Ser)
c.2420T>G (p.Ile807Ser)
c.2396T>G (p.Ile799Ser)
c.2378T>G (p.Ile793Ser)
c.2348T>G (p.Ile783Ser)
c.2306T>G (p.Ile769Ser)
c.2213T>G (p.Ile738Ser)
c.2225T>G (p.Ile742Ser)
c.2268+26117T>G (n.2268+26117T>G)
15g.27845037A>GCA7438603OCA2c.2354T>C (p.Ile785Thr)
c.2282T>C (p.Ile761Thr)
c.2420T>C (p.Ile807Thr)
c.2396T>C (p.Ile799Thr)
c.2378T>C (p.Ile793Thr)
c.2348T>C (p.Ile783Thr)
c.2306T>C (p.Ile769Thr)
c.2213T>C (p.Ile738Thr)
c.2225T>C (p.Ile742Thr)
c.2268+26117T>C (n.2268+26117T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27845037A>TCA391358531OCA2c.2354T>A (p.Ile785Asn)
c.2282T>A (p.Ile761Asn)
c.2420T>A (p.Ile807Asn)
c.2396T>A (p.Ile799Asn)
c.2378T>A (p.Ile793Asn)
c.2348T>A (p.Ile783Asn)
c.2306T>A (p.Ile769Asn)
c.2213T>A (p.Ile738Asn)
c.2225T>A (p.Ile742Asn)
c.2268+26117T>A (n.2268+26117T>A)
15g.27845038T>ACA391358534OCA2c.2353A>T (p.Ile785Phe)
c.2281A>T (p.Ile761Phe)
c.2419A>T (p.Ile807Phe)
c.2395A>T (p.Ile799Phe)
c.2377A>T (p.Ile793Phe)
c.2347A>T (p.Ile783Phe)
c.2305A>T (p.Ile769Phe)
c.2212A>T (p.Ile738Phe)
c.2224A>T (p.Ile742Phe)
c.2268+26116A>T (n.2268+26116A>T)
15g.27845038T>CCA391358536OCA2c.2353A>G (p.Ile785Val)
c.2281A>G (p.Ile761Val)
c.2419A>G (p.Ile807Val)
c.2395A>G (p.Ile799Val)
c.2377A>G (p.Ile793Val)
c.2347A>G (p.Ile783Val)
c.2305A>G (p.Ile769Val)
c.2212A>G (p.Ile738Val)
c.2224A>G (p.Ile742Val)
c.2268+26116A>G (n.2268+26116A>G)
15g.27845038T>GCA391358538OCA2c.2353A>C (p.Ile785Leu)
c.2281A>C (p.Ile761Leu)
c.2419A>C (p.Ile807Leu)
c.2395A>C (p.Ile799Leu)
c.2377A>C (p.Ile793Leu)
c.2347A>C (p.Ile783Leu)
c.2305A>C (p.Ile769Leu)
c.2212A>C (p.Ile738Leu)
c.2224A>C (p.Ile742Leu)
c.2268+26116A>C (n.2268+26116A>C)
15g.27845039C>ACA488958624OCA2c.2352G>T (p.Leu784=)
c.2280G>T (p.Leu760=)
c.2418G>T (p.Leu806=)
c.2394G>T (p.Leu798=)
c.2376G>T (p.Leu792=)
c.2346G>T (p.Leu782=)
c.2304G>T (p.Leu768=)
c.2211G>T (p.Leu737=)
c.2223G>T (p.Leu741=)
c.2268+26115G>T (n.2268+26115G>T)
15g.27845039C>GCA488958625OCA2c.2352G>C (p.Leu784=)
c.2280G>C (p.Leu760=)
c.2418G>C (p.Leu806=)
c.2394G>C (p.Leu798=)
c.2376G>C (p.Leu792=)
c.2346G>C (p.Leu782=)
c.2304G>C (p.Leu768=)
c.2211G>C (p.Leu737=)
c.2223G>C (p.Leu741=)
c.2268+26115G>C (n.2268+26115G>C)
15g.27845039C>TCA488958626OCA2c.2352G>A (p.Leu784=)
c.2280G>A (p.Leu760=)
c.2418G>A (p.Leu806=)
c.2394G>A (p.Leu798=)
c.2376G>A (p.Leu792=)
c.2346G>A (p.Leu782=)
c.2304G>A (p.Leu768=)
c.2211G>A (p.Leu737=)
c.2223G>A (p.Leu741=)
c.2268+26115G>A (n.2268+26115G>A)
 gnomAD v4
15g.27845040A=CA2166337112OCA2c.2351T= (p.Leu784=)
c.2279T= (p.Leu760=)
c.2417T= (p.Leu806=)
c.2393T= (p.Leu798=)
c.2375T= (p.Leu792=)
c.2345T= (p.Leu782=)
c.2303T= (p.Leu768=)
c.2210T= (p.Leu737=)
c.2222T= (p.Leu741=)
c.2268+26114T= (n.2268+26114T=)
15g.27845040A>CCA391358545OCA2c.2351T>G (p.Leu784Arg)
c.2279T>G (p.Leu760Arg)
c.2417T>G (p.Leu806Arg)
c.2393T>G (p.Leu798Arg)
c.2375T>G (p.Leu792Arg)
c.2345T>G (p.Leu782Arg)
c.2303T>G (p.Leu768Arg)
c.2210T>G (p.Leu737Arg)
c.2222T>G (p.Leu741Arg)
c.2268+26114T>G (n.2268+26114T>G)
15g.27845040A>GCA391358541OCA2c.2351T>C (p.Leu784Pro)
c.2279T>C (p.Leu760Pro)
c.2417T>C (p.Leu806Pro)
c.2393T>C (p.Leu798Pro)
c.2375T>C (p.Leu792Pro)
c.2345T>C (p.Leu782Pro)
c.2303T>C (p.Leu768Pro)
c.2210T>C (p.Leu737Pro)
c.2222T>C (p.Leu741Pro)
c.2268+26114T>C (n.2268+26114T>C)
 dbSNP gnomAD v2 gnomAD v4
15g.27845040A>TCA391358543OCA2c.2351T>A (p.Leu784Gln)
c.2279T>A (p.Leu760Gln)
c.2417T>A (p.Leu806Gln)
c.2393T>A (p.Leu798Gln)
c.2375T>A (p.Leu792Gln)
c.2345T>A (p.Leu782Gln)
c.2303T>A (p.Leu768Gln)
c.2210T>A (p.Leu737Gln)
c.2222T>A (p.Leu741Gln)
c.2268+26114T>A (n.2268+26114T>A)
 dbSNP gnomAD v2 gnomAD v4
15g.27845041G>ACA488958627OCA2c.2350C>T (p.Leu784=)
c.2278C>T (p.Leu760=)
c.2416C>T (p.Leu806=)
c.2392C>T (p.Leu798=)
c.2374C>T (p.Leu792=)
c.2344C>T (p.Leu782=)
c.2302C>T (p.Leu768=)
c.2209C>T (p.Leu737=)
c.2221C>T (p.Leu741=)
c.2268+26113C>T (n.2268+26113C>T)
15g.27845041G>CCA391358547OCA2c.2350C>G (p.Leu784Val)
c.2278C>G (p.Leu760Val)
c.2416C>G (p.Leu806Val)
c.2392C>G (p.Leu798Val)
c.2374C>G (p.Leu792Val)
c.2344C>G (p.Leu782Val)
c.2302C>G (p.Leu768Val)
c.2209C>G (p.Leu737Val)
c.2221C>G (p.Leu741Val)
c.2268+26113C>G (n.2268+26113C>G)
 gnomAD v4
15g.27845041G>TCA391358549OCA2c.2350C>A (p.Leu784Met)
c.2278C>A (p.Leu760Met)
c.2416C>A (p.Leu806Met)
c.2392C>A (p.Leu798Met)
c.2374C>A (p.Leu792Met)
c.2344C>A (p.Leu782Met)
c.2302C>A (p.Leu768Met)
c.2209C>A (p.Leu737Met)
c.2221C>A (p.Leu741Met)
c.2268+26113C>A (n.2268+26113C>A)
15g.27845042T>ACA488958628OCA2c.2349A>T (p.Thr783=)
c.2277A>T (p.Thr759=)
c.2415A>T (p.Thr805=)
c.2391A>T (p.Thr797=)
c.2373A>T (p.Thr791=)
c.2343A>T (p.Thr781=)
c.2301A>T (p.Thr767=)
c.2208A>T (p.Thr736=)
c.2220A>T (p.Thr740=)
c.2268+26112A>T (n.2268+26112A>T)
15g.27845042T>CCA488958629OCA2c.2349A>G (p.Thr783=)
c.2277A>G (p.Thr759=)
c.2415A>G (p.Thr805=)
c.2391A>G (p.Thr797=)
c.2373A>G (p.Thr791=)
c.2343A>G (p.Thr781=)
c.2301A>G (p.Thr767=)
c.2208A>G (p.Thr736=)
c.2220A>G (p.Thr740=)
c.2268+26112A>G (n.2268+26112A>G)
 gnomAD v4
15g.27845042T>GCA488958630OCA2c.2349A>C (p.Thr783=)
c.2277A>C (p.Thr759=)
c.2415A>C (p.Thr805=)
c.2391A>C (p.Thr797=)
c.2373A>C (p.Thr791=)
c.2343A>C (p.Thr781=)
c.2301A>C (p.Thr767=)
c.2208A>C (p.Thr736=)
c.2220A>C (p.Thr740=)
c.2268+26112A>C (n.2268+26112A>C)
 ClinVar
15g.27845043G>ACA391358550OCA2c.2348C>T (p.Thr783Ile)
c.2276C>T (p.Thr759Ile)
c.2414C>T (p.Thr805Ile)
c.2390C>T (p.Thr797Ile)
c.2372C>T (p.Thr791Ile)
c.2342C>T (p.Thr781Ile)
c.2300C>T (p.Thr767Ile)
c.2207C>T (p.Thr736Ile)
c.2219C>T (p.Thr740Ile)
c.2268+26111C>T (n.2268+26111C>T)
15g.27845043G>CCA391358551OCA2c.2348C>G (p.Thr783Arg)
c.2276C>G (p.Thr759Arg)
c.2414C>G (p.Thr805Arg)
c.2390C>G (p.Thr797Arg)
c.2372C>G (p.Thr791Arg)
c.2342C>G (p.Thr781Arg)
c.2300C>G (p.Thr767Arg)
c.2207C>G (p.Thr736Arg)
c.2219C>G (p.Thr740Arg)
c.2268+26111C>G (n.2268+26111C>G)
15g.27845043G>TCA391358553OCA2c.2348C>A (p.Thr783Lys)
c.2276C>A (p.Thr759Lys)
c.2414C>A (p.Thr805Lys)
c.2390C>A (p.Thr797Lys)
c.2372C>A (p.Thr791Lys)
c.2342C>A (p.Thr781Lys)
c.2300C>A (p.Thr767Lys)
c.2207C>A (p.Thr736Lys)
c.2219C>A (p.Thr740Lys)
c.2268+26111C>A (n.2268+26111C>A)
15g.27845044T>ACA391358556OCA2c.2347A>T (p.Thr783Ser)
c.2275A>T (p.Thr759Ser)
c.2413A>T (p.Thr805Ser)
c.2389A>T (p.Thr797Ser)
c.2371A>T (p.Thr791Ser)
c.2341A>T (p.Thr781Ser)
c.2299A>T (p.Thr767Ser)
c.2206A>T (p.Thr736Ser)
c.2218A>T (p.Thr740Ser)
c.2268+26110A>T (n.2268+26110A>T)
15g.27845044T>CCA391358557OCA2c.2347A>G (p.Thr783Ala)
c.2275A>G (p.Thr759Ala)
c.2413A>G (p.Thr805Ala)
c.2389A>G (p.Thr797Ala)
c.2371A>G (p.Thr791Ala)
c.2341A>G (p.Thr781Ala)
c.2299A>G (p.Thr767Ala)
c.2206A>G (p.Thr736Ala)
c.2218A>G (p.Thr740Ala)
c.2268+26110A>G (n.2268+26110A>G)
15g.27845044T>GCA391358558OCA2c.2347A>C (p.Thr783Pro)
c.2275A>C (p.Thr759Pro)
c.2413A>C (p.Thr805Pro)
c.2389A>C (p.Thr797Pro)
c.2371A>C (p.Thr791Pro)
c.2341A>C (p.Thr781Pro)
c.2299A>C (p.Thr767Pro)
c.2206A>C (p.Thr736Pro)
c.2218A>C (p.Thr740Pro)
c.2268+26110A>C (n.2268+26110A>C)
15g.27845045C>ACA488958634OCA2c.2346G>T (p.Gly782=)
c.2274G>T (p.Gly758=)
c.2412G>T (p.Gly804=)
c.2388G>T (p.Gly796=)
c.2370G>T (p.Gly790=)
c.2340G>T (p.Gly780=)
c.2298G>T (p.Gly766=)
c.2205G>T (p.Gly735=)
c.2217G>T (p.Gly739=)
c.2268+26109G>T (n.2268+26109G>T)
15g.27845045C>GCA488958633OCA2c.2346G>C (p.Gly782=)
c.2274G>C (p.Gly758=)
c.2412G>C (p.Gly804=)
c.2388G>C (p.Gly796=)
c.2370G>C (p.Gly790=)
c.2340G>C (p.Gly780=)
c.2298G>C (p.Gly766=)
c.2205G>C (p.Gly735=)
c.2217G>C (p.Gly739=)
c.2268+26109G>C (n.2268+26109G>C)
15g.27845045C>TCA488958632OCA2c.2346G>A (p.Gly782=)
c.2274G>A (p.Gly758=)
c.2412G>A (p.Gly804=)
c.2388G>A (p.Gly796=)
c.2370G>A (p.Gly790=)
c.2340G>A (p.Gly780=)
c.2298G>A (p.Gly766=)
c.2205G>A (p.Gly735=)
c.2217G>A (p.Gly739=)
c.2268+26109G>A (n.2268+26109G>A)
15g.27845047delCA2575652831OCA2c.2346del (p.Thr783HisfsTer2)
c.2274del (p.Thr759HisfsTer2)
c.2412del (p.Thr805HisfsTer2)
c.2388del (p.Thr797HisfsTer2)
c.2370del (p.Thr791HisfsTer2)
c.2340del (p.Thr781HisfsTer2)
c.2298del (p.Thr767HisfsTer2)
c.2205del (p.Thr736HisfsTer2)
c.2217del (p.Thr740HisfsTer2)
c.2268+26109del (n.2268+26109del)
 gnomAD v4
15g.27845046C>ACA391358560OCA2c.2345G>T (p.Gly782Val)
c.2273G>T (p.Gly758Val)
c.2411G>T (p.Gly804Val)
c.2387G>T (p.Gly796Val)
c.2369G>T (p.Gly790Val)
c.2339G>T (p.Gly780Val)
c.2297G>T (p.Gly766Val)
c.2204G>T (p.Gly735Val)
c.2216G>T (p.Gly739Val)
c.2268+26108G>T (n.2268+26108G>T)
15g.27845046C=CA2166337116OCA2c.2345G= (p.Gly782=)
c.2273G= (p.Gly758=)
c.2411G= (p.Gly804=)
c.2387G= (p.Gly796=)
c.2369G= (p.Gly790=)
c.2339G= (p.Gly780=)
c.2297G= (p.Gly766=)
c.2204G= (p.Gly735=)
c.2216G= (p.Gly739=)
c.2268+26108G= (n.2268+26108G=)
15g.27845046C>GCA391358562OCA2c.2345G>C (p.Gly782Ala)
c.2273G>C (p.Gly758Ala)
c.2411G>C (p.Gly804Ala)
c.2387G>C (p.Gly796Ala)
c.2369G>C (p.Gly790Ala)
c.2339G>C (p.Gly780Ala)
c.2297G>C (p.Gly766Ala)
c.2204G>C (p.Gly735Ala)
c.2216G>C (p.Gly739Ala)
c.2268+26108G>C (n.2268+26108G>C)
15g.27845046C>TCA391358564OCA2c.2345G>A (p.Gly782Glu)
c.2273G>A (p.Gly758Glu)
c.2411G>A (p.Gly804Glu)
c.2387G>A (p.Gly796Glu)
c.2369G>A (p.Gly790Glu)
c.2339G>A (p.Gly780Glu)
c.2297G>A (p.Gly766Glu)
c.2204G>A (p.Gly735Glu)
c.2216G>A (p.Gly739Glu)
c.2268+26108G>A (n.2268+26108G>A)
 dbSNP gnomAD v4
15g.27845047C>ACA391358567OCA2c.2344G>T (p.Gly782Trp)
c.2272G>T (p.Gly758Trp)
c.2410G>T (p.Gly804Trp)
c.2386G>T (p.Gly796Trp)
c.2368G>T (p.Gly790Trp)
c.2338G>T (p.Gly780Trp)
c.2296G>T (p.Gly766Trp)
c.2203G>T (p.Gly735Trp)
c.2215G>T (p.Gly739Trp)
c.2268+26107G>T (n.2268+26107G>T)
15g.27845047C=CA2166337119OCA2c.2344G= (p.Gly782=)
c.2272G= (p.Gly758=)
c.2410G= (p.Gly804=)
c.2386G= (p.Gly796=)
c.2368G= (p.Gly790=)
c.2338G= (p.Gly780=)
c.2296G= (p.Gly766=)
c.2203G= (p.Gly735=)
c.2215G= (p.Gly739=)
c.2268+26107G= (n.2268+26107G=)
15g.27845047C>GCA391358571OCA2c.2344G>C (p.Gly782Arg)
c.2272G>C (p.Gly758Arg)
c.2410G>C (p.Gly804Arg)
c.2386G>C (p.Gly796Arg)
c.2368G>C (p.Gly790Arg)
c.2338G>C (p.Gly780Arg)
c.2296G>C (p.Gly766Arg)
c.2203G>C (p.Gly735Arg)
c.2215G>C (p.Gly739Arg)
c.2268+26107G>C (n.2268+26107G>C)
15g.27845047C>TCA277156OCA2c.2344G>A (p.Gly782Arg)
c.2272G>A (p.Gly758Arg)
c.2410G>A (p.Gly804Arg)
c.2386G>A (p.Gly796Arg)
c.2368G>A (p.Gly790Arg)
c.2338G>A (p.Gly780Arg)
c.2296G>A (p.Gly766Arg)
c.2203G>A (p.Gly735Arg)
c.2215G>A (p.Gly739Arg)
c.2268+26107G>A (n.2268+26107G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched