Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197434936A=CA1218068725CRB1c.3073A= (p.Ser1025=)
c.1954A= (p.Ser652=)
c.1216A= (p.Ser406=)
c.2737A= (p.Ser913=)
c.3001A= (p.Ser1001=)
c.2129-664A= (n.2129-664A=)
n.3074A=
n.3282A=
c.2491A= (p.Ser831=)
c.1516A= (p.Ser506=)
c.2230A= (p.Ser744=)
c.3208A= (p.Ser1070=)
n.3026A=
n.3234A=
1g.197434936A>CCA344045217CRB1c.3073A>C (p.Ser1025Arg)
c.1954A>C (p.Ser652Arg)
c.1216A>C (p.Ser406Arg)
c.2737A>C (p.Ser913Arg)
c.3001A>C (p.Ser1001Arg)
c.2129-664A>C (n.2129-664A>C)
n.3074A>C
n.3282A>C
c.2491A>C (p.Ser831Arg)
c.1516A>C (p.Ser506Arg)
c.2230A>C (p.Ser744Arg)
c.3208A>C (p.Ser1070Arg)
n.3026A>C
n.3234A>C
1g.197434936A>GCA1312269CRB1c.3073A>G (p.Ser1025Gly)
c.1954A>G (p.Ser652Gly)
c.1216A>G (p.Ser406Gly)
c.2737A>G (p.Ser913Gly)
c.3001A>G (p.Ser1001Gly)
c.2129-664A>G (n.2129-664A>G)
n.3074A>G
n.3282A>G
c.2491A>G (p.Ser831Gly)
c.1516A>G (p.Ser506Gly)
c.2230A>G (p.Ser744Gly)
c.3208A>G (p.Ser1070Gly)
n.3026A>G
n.3234A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434936A>TCA344045219CRB1c.3073A>T (p.Ser1025Cys)
c.1954A>T (p.Ser652Cys)
c.1216A>T (p.Ser406Cys)
c.2737A>T (p.Ser913Cys)
c.3001A>T (p.Ser1001Cys)
c.2129-664A>T (n.2129-664A>T)
n.3074A>T
n.3282A>T
c.2491A>T (p.Ser831Cys)
c.1516A>T (p.Ser506Cys)
c.2230A>T (p.Ser744Cys)
c.3208A>T (p.Ser1070Cys)
n.3026A>T
n.3234A>T
1g.197434937G>ACA344045220CRB1c.3074G>A (p.Ser1025Asn)
c.1955G>A (p.Ser652Asn)
c.1217G>A (p.Ser406Asn)
c.2738G>A (p.Ser913Asn)
c.3002G>A (p.Ser1001Asn)
c.2129-663G>A (n.2129-663G>A)
n.3075G>A
n.3283G>A
c.2492G>A (p.Ser831Asn)
c.1517G>A (p.Ser506Asn)
c.2231G>A (p.Ser744Asn)
c.3209G>A (p.Ser1070Asn)
n.3027G>A
n.3235G>A
 ClinVar dbSNP gnomAD v4
1g.197434937G>CCA344045223CRB1c.3074G>C (p.Ser1025Thr)
c.1955G>C (p.Ser652Thr)
c.1217G>C (p.Ser406Thr)
c.2738G>C (p.Ser913Thr)
c.3002G>C (p.Ser1001Thr)
c.2129-663G>C (n.2129-663G>C)
n.3075G>C
n.3283G>C
c.2492G>C (p.Ser831Thr)
c.1517G>C (p.Ser506Thr)
c.2231G>C (p.Ser744Thr)
c.3209G>C (p.Ser1070Thr)
n.3027G>C
n.3235G>C
1g.197434937G=CA1140762959CRB1c.3074G= (p.Ser1025=)
c.1955G= (p.Ser652=)
c.1217G= (p.Ser406=)
c.2738G= (p.Ser913=)
c.3002G= (p.Ser1001=)
c.2129-663G= (n.2129-663G=)
n.3075G=
n.3283G=
c.2492G= (p.Ser831=)
c.1517G= (p.Ser506=)
c.2231G= (p.Ser744=)
c.3209G= (p.Ser1070=)
n.3027G=
n.3235G=
1g.197434937G>TCA228030CRB1c.3074G>T (p.Ser1025Ile)
c.1955G>T (p.Ser652Ile)
c.1217G>T (p.Ser406Ile)
c.2738G>T (p.Ser913Ile)
c.3002G>T (p.Ser1001Ile)
c.2129-663G>T (n.2129-663G>T)
n.3075G>T
n.3283G>T
c.2492G>T (p.Ser831Ile)
c.1517G>T (p.Ser506Ile)
c.2231G>T (p.Ser744Ile)
c.3209G>T (p.Ser1070Ile)
n.3027G>T
n.3235G>T
 ClinVar dbSNP
1g.197434938T>ACA344045228CRB1c.3075T>A (p.Ser1025Arg)
c.1956T>A (p.Ser652Arg)
c.1218T>A (p.Ser406Arg)
c.2739T>A (p.Ser913Arg)
c.3003T>A (p.Ser1001Arg)
c.2129-662T>A (n.2129-662T>A)
n.3076T>A
n.3284T>A
c.2493T>A (p.Ser831Arg)
c.1518T>A (p.Ser506Arg)
c.2232T>A (p.Ser744Arg)
c.3210T>A (p.Ser1070Arg)
n.3028T>A
n.3236T>A
1g.197434938T>CCA422808763CRB1c.3075T>C (p.Ser1025=)
c.1956T>C (p.Ser652=)
c.1218T>C (p.Ser406=)
c.2739T>C (p.Ser913=)
c.3003T>C (p.Ser1001=)
c.2129-662T>C (n.2129-662T>C)
n.3076T>C
n.3284T>C
c.2493T>C (p.Ser831=)
c.1518T>C (p.Ser506=)
c.2232T>C (p.Ser744=)
c.3210T>C (p.Ser1070=)
n.3028T>C
n.3236T>C
 ClinVar
1g.197434938T>GCA344045232CRB1c.3075T>G (p.Ser1025Arg)
c.1956T>G (p.Ser652Arg)
c.1218T>G (p.Ser406Arg)
c.2739T>G (p.Ser913Arg)
c.3003T>G (p.Ser1001Arg)
c.2129-662T>G (n.2129-662T>G)
n.3076T>G
n.3284T>G
c.2493T>G (p.Ser831Arg)
c.1518T>G (p.Ser506Arg)
c.2232T>G (p.Ser744Arg)
c.3210T>G (p.Ser1070Arg)
n.3028T>G
n.3236T>G
1g.197434939T>ACA344045233CRB1c.3076T>A (p.Leu1026Met)
c.1957T>A (p.Leu653Met)
c.1219T>A (p.Leu407Met)
c.2740T>A (p.Leu914Met)
c.3004T>A (p.Leu1002Met)
c.2129-661T>A (n.2129-661T>A)
n.3077T>A
n.3285T>A
c.2494T>A (p.Leu832Met)
c.1519T>A (p.Leu507Met)
c.2233T>A (p.Leu745Met)
c.3211T>A (p.Leu1071Met)
n.3029T>A
n.3237T>A
1g.197434939T>CCA422808765CRB1c.3076T>C (p.Leu1026=)
c.1957T>C (p.Leu653=)
c.1219T>C (p.Leu407=)
c.2740T>C (p.Leu914=)
c.3004T>C (p.Leu1002=)
c.2129-661T>C (n.2129-661T>C)
n.3077T>C
n.3285T>C
c.2494T>C (p.Leu832=)
c.1519T>C (p.Leu507=)
c.2233T>C (p.Leu745=)
c.3211T>C (p.Leu1071=)
n.3029T>C
n.3237T>C
 gnomAD v4
1g.197434939T>GCA344045234CRB1c.3076T>G (p.Leu1026Val)
c.1957T>G (p.Leu653Val)
c.1219T>G (p.Leu407Val)
c.2740T>G (p.Leu914Val)
c.3004T>G (p.Leu1002Val)
c.2129-661T>G (n.2129-661T>G)
n.3077T>G
n.3285T>G
c.2494T>G (p.Leu832Val)
c.1519T>G (p.Leu507Val)
c.2233T>G (p.Leu745Val)
c.3211T>G (p.Leu1071Val)
n.3029T>G
n.3237T>G
1g.197434940T>ACA344045236CRB1c.3077T>A (p.Leu1026Ter)
c.1958T>A (p.Leu653Ter)
c.1220T>A (p.Leu407Ter)
c.2741T>A (p.Leu914Ter)
c.3005T>A (p.Leu1002Ter)
c.2129-660T>A (n.2129-660T>A)
n.3078T>A
n.3286T>A
c.2495T>A (p.Leu832Ter)
c.1520T>A (p.Leu507Ter)
c.2234T>A (p.Leu745Ter)
c.3212T>A (p.Leu1071Ter)
n.3030T>A
n.3238T>A
1g.197434940T>CCA344045239CRB1c.3077T>C (p.Leu1026Ser)
c.1958T>C (p.Leu653Ser)
c.1220T>C (p.Leu407Ser)
c.2741T>C (p.Leu914Ser)
c.3005T>C (p.Leu1002Ser)
c.2129-660T>C (n.2129-660T>C)
n.3078T>C
n.3286T>C
c.2495T>C (p.Leu832Ser)
c.1520T>C (p.Leu507Ser)
c.2234T>C (p.Leu745Ser)
c.3212T>C (p.Leu1071Ser)
n.3030T>C
n.3238T>C
 gnomAD v4
1g.197434940T>GCA344045242CRB1c.3077T>G (p.Leu1026Trp)
c.1958T>G (p.Leu653Trp)
c.1220T>G (p.Leu407Trp)
c.2741T>G (p.Leu914Trp)
c.3005T>G (p.Leu1002Trp)
c.2129-660T>G (n.2129-660T>G)
n.3078T>G
n.3286T>G
c.2495T>G (p.Leu832Trp)
c.1520T>G (p.Leu507Trp)
c.2234T>G (p.Leu745Trp)
c.3212T>G (p.Leu1071Trp)
n.3030T>G
n.3238T>G
1g.197434941G>ACA422808766CRB1c.3078G>A (p.Leu1026=)
c.1959G>A (p.Leu653=)
c.1221G>A (p.Leu407=)
c.2742G>A (p.Leu914=)
c.3006G>A (p.Leu1002=)
c.2129-659G>A (n.2129-659G>A)
n.3079G>A
n.3287G>A
c.2496G>A (p.Leu832=)
c.1521G>A (p.Leu507=)
c.2235G>A (p.Leu745=)
c.3213G>A (p.Leu1071=)
n.3031G>A
n.3239G>A
1g.197434941G>CCA344045247CRB1c.3078G>C (p.Leu1026Phe)
c.1959G>C (p.Leu653Phe)
c.1221G>C (p.Leu407Phe)
c.2742G>C (p.Leu914Phe)
c.3006G>C (p.Leu1002Phe)
c.2129-659G>C (n.2129-659G>C)
n.3079G>C
n.3287G>C
c.2496G>C (p.Leu832Phe)
c.1521G>C (p.Leu507Phe)
c.2235G>C (p.Leu745Phe)
c.3213G>C (p.Leu1071Phe)
n.3031G>C
n.3239G>C
1g.197434941G=CA1218068726CRB1c.3078G= (p.Leu1026=)
c.1959G= (p.Leu653=)
c.1221G= (p.Leu407=)
c.2742G= (p.Leu914=)
c.3006G= (p.Leu1002=)
c.2129-659G= (n.2129-659G=)
n.3079G=
n.3287G=
c.2496G= (p.Leu832=)
c.1521G= (p.Leu507=)
c.2235G= (p.Leu745=)
c.3213G= (p.Leu1071=)
n.3031G=
n.3239G=
1g.197434941G>TCA344045261CRB1c.3078G>T (p.Leu1026Phe)
c.1959G>T (p.Leu653Phe)
c.1221G>T (p.Leu407Phe)
c.2742G>T (p.Leu914Phe)
c.3006G>T (p.Leu1002Phe)
c.2129-659G>T (n.2129-659G>T)
n.3079G>T
n.3287G>T
c.2496G>T (p.Leu832Phe)
c.1521G>T (p.Leu507Phe)
c.2235G>T (p.Leu745Phe)
c.3213G>T (p.Leu1071Phe)
n.3031G>T
n.3239G>T
 dbSNP
1g.197434942C>ACA344045268CRB1c.3079C>A (p.Gln1027Lys)
c.1960C>A (p.Gln654Lys)
c.1222C>A (p.Gln408Lys)
c.2743C>A (p.Gln915Lys)
c.3007C>A (p.Gln1003Lys)
c.2129-658C>A (n.2129-658C>A)
n.3080C>A
n.3288C>A
c.2497C>A (p.Gln833Lys)
c.1522C>A (p.Gln508Lys)
c.2236C>A (p.Gln746Lys)
c.3214C>A (p.Gln1072Lys)
n.3032C>A
n.3240C>A
1g.197434942C>GCA344045271CRB1c.3079C>G (p.Gln1027Glu)
c.1960C>G (p.Gln654Glu)
c.1222C>G (p.Gln408Glu)
c.2743C>G (p.Gln915Glu)
c.3007C>G (p.Gln1003Glu)
c.2129-658C>G (n.2129-658C>G)
n.3080C>G
n.3288C>G
c.2497C>G (p.Gln833Glu)
c.1522C>G (p.Gln508Glu)
c.2236C>G (p.Gln746Glu)
c.3214C>G (p.Gln1072Glu)
n.3032C>G
n.3240C>G
1g.197434942C>TCA344045274CRB1c.3079C>T (p.Gln1027Ter)
c.1960C>T (p.Gln654Ter)
c.1222C>T (p.Gln408Ter)
c.2743C>T (p.Gln915Ter)
c.3007C>T (p.Gln1003Ter)
c.2129-658C>T (n.2129-658C>T)
n.3080C>T
n.3288C>T
c.2497C>T (p.Gln833Ter)
c.1522C>T (p.Gln508Ter)
c.2236C>T (p.Gln746Ter)
c.3214C>T (p.Gln1072Ter)
n.3032C>T
n.3240C>T
 COSMIC
1g.197434942_197434943delinsCACA1218068727CRB1c.3079_3080delinsCA (p.Gln1027=)
c.1960_1961delinsCA (p.Gln654=)
c.1222_1223delinsCA (p.Gln408=)
c.2743_2744delinsCA (p.Gln915=)
c.3007_3008delinsCA (p.Gln1003=)
c.2129-658_2129-657delinsCA (n.2129-658_2129-657delinsCA)
n.3080_3081delinsCA
n.3288_3289delinsCA
c.2497_2498delinsCA (p.Gln833=)
c.1522_1523delinsCA (p.Gln508=)
c.2236_2237delinsCA (p.Gln746=)
c.3214_3215delinsCA (p.Gln1072=)
n.3032_3033delinsCA
n.3240_3241delinsCA
1g.197434943delCA913189557CRB1c.3080del (p.Gln1027ArgfsTer3)
c.1961del (p.Gln654ArgfsTer3)
c.1223del (p.Gln408ArgfsTer3)
c.2744del (p.Gln915ArgfsTer3)
c.3008del (p.Gln1003ArgfsTer3)
c.2129-657del (n.2129-657del)
n.3081del
n.3289del
c.2498del (p.Gln833ArgfsTer3)
c.1523del (p.Gln508ArgfsTer3)
c.2237del (p.Gln746ArgfsTer3)
c.3215del (p.Gln1072ArgfsTer3)
n.3033del
n.3241del
 ClinVar dbSNP
1g.197434943A>CCA344045278CRB1c.3080A>C (p.Gln1027Pro)
c.1961A>C (p.Gln654Pro)
c.1223A>C (p.Gln408Pro)
c.2744A>C (p.Gln915Pro)
c.3008A>C (p.Gln1003Pro)
c.2129-657A>C (n.2129-657A>C)
n.3081A>C
n.3289A>C
c.2498A>C (p.Gln833Pro)
c.1523A>C (p.Gln508Pro)
c.2237A>C (p.Gln746Pro)
c.3215A>C (p.Gln1072Pro)
n.3033A>C
n.3241A>C
1g.197434943A>GCA344045280CRB1c.3080A>G (p.Gln1027Arg)
c.1961A>G (p.Gln654Arg)
c.1223A>G (p.Gln408Arg)
c.2744A>G (p.Gln915Arg)
c.3008A>G (p.Gln1003Arg)
c.2129-657A>G (n.2129-657A>G)
n.3081A>G
n.3289A>G
c.2498A>G (p.Gln833Arg)
c.1523A>G (p.Gln508Arg)
c.2237A>G (p.Gln746Arg)
c.3215A>G (p.Gln1072Arg)
n.3033A>G
n.3241A>G
1g.197434943A>TCA344045282CRB1c.3080A>T (p.Gln1027Leu)
c.1961A>T (p.Gln654Leu)
c.1223A>T (p.Gln408Leu)
c.2744A>T (p.Gln915Leu)
c.3008A>T (p.Gln1003Leu)
c.2129-657A>T (n.2129-657A>T)
n.3081A>T
n.3289A>T
c.2498A>T (p.Gln833Leu)
c.1523A>T (p.Gln508Leu)
c.2237A>T (p.Gln746Leu)
c.3215A>T (p.Gln1072Leu)
n.3033A>T
n.3241A>T
 ClinVar
1g.197434944G>ACA422808769CRB1c.3081G>A (p.Gln1027=)
c.1962G>A (p.Gln654=)
c.1224G>A (p.Gln408=)
c.2745G>A (p.Gln915=)
c.3009G>A (p.Gln1003=)
c.2129-656G>A (n.2129-656G>A)
n.3082G>A
n.3290G>A
c.2499G>A (p.Gln833=)
c.1524G>A (p.Gln508=)
c.2238G>A (p.Gln746=)
c.3216G>A (p.Gln1072=)
n.3034G>A
n.3242G>A
 dbSNP
1g.197434944G>CCA344045289CRB1c.3081G>C (p.Gln1027His)
c.1962G>C (p.Gln654His)
c.1224G>C (p.Gln408His)
c.2745G>C (p.Gln915His)
c.3009G>C (p.Gln1003His)
c.2129-656G>C (n.2129-656G>C)
n.3082G>C
n.3290G>C
c.2499G>C (p.Gln833His)
c.1524G>C (p.Gln508His)
c.2238G>C (p.Gln746His)
c.3216G>C (p.Gln1072His)
n.3034G>C
n.3242G>C
1g.197434944G=CA1218068728CRB1c.3081G= (p.Gln1027=)
c.1962G= (p.Gln654=)
c.1224G= (p.Gln408=)
c.2745G= (p.Gln915=)
c.3009G= (p.Gln1003=)
c.2129-656G= (n.2129-656G=)
n.3082G=
n.3290G=
c.2499G= (p.Gln833=)
c.1524G= (p.Gln508=)
c.2238G= (p.Gln746=)
c.3216G= (p.Gln1072=)
n.3034G=
n.3242G=
1g.197434944G>TCA344045286CRB1c.3081G>T (p.Gln1027His)
c.1962G>T (p.Gln654His)
c.1224G>T (p.Gln408His)
c.2745G>T (p.Gln915His)
c.3009G>T (p.Gln1003His)
c.2129-656G>T (n.2129-656G>T)
n.3082G>T
n.3290G>T
c.2499G>T (p.Gln833His)
c.1524G>T (p.Gln508His)
c.2238G>T (p.Gln746His)
c.3216G>T (p.Gln1072His)
n.3034G>T
n.3242G>T
 dbSNP gnomAD v2 gnomAD v4
1g.197434945T>ACA344045294CRB1c.3082T>A (p.Ser1028Thr)
c.1963T>A (p.Ser655Thr)
c.1225T>A (p.Ser409Thr)
c.2746T>A (p.Ser916Thr)
c.3010T>A (p.Ser1004Thr)
c.2129-655T>A (n.2129-655T>A)
n.3083T>A
n.3291T>A
c.2500T>A (p.Ser834Thr)
c.1525T>A (p.Ser509Thr)
c.2239T>A (p.Ser747Thr)
c.3217T>A (p.Ser1073Thr)
n.3035T>A
n.3243T>A
1g.197434945T>CCA344045300CRB1c.3082T>C (p.Ser1028Pro)
c.1963T>C (p.Ser655Pro)
c.1225T>C (p.Ser409Pro)
c.2746T>C (p.Ser916Pro)
c.3010T>C (p.Ser1004Pro)
c.2129-655T>C (n.2129-655T>C)
n.3083T>C
n.3291T>C
c.2500T>C (p.Ser834Pro)
c.1525T>C (p.Ser509Pro)
c.2239T>C (p.Ser747Pro)
c.3217T>C (p.Ser1073Pro)
n.3035T>C
n.3243T>C
 gnomAD v4
1g.197434945T>GCA344045299CRB1c.3082T>G (p.Ser1028Ala)
c.1963T>G (p.Ser655Ala)
c.1225T>G (p.Ser409Ala)
c.2746T>G (p.Ser916Ala)
c.3010T>G (p.Ser1004Ala)
c.2129-655T>G (n.2129-655T>G)
n.3083T>G
n.3291T>G
c.2500T>G (p.Ser834Ala)
c.1525T>G (p.Ser509Ala)
c.2239T>G (p.Ser747Ala)
c.3217T>G (p.Ser1073Ala)
n.3035T>G
n.3243T>G
1g.197434946C>ACA344045301CRB1c.3083C>A (p.Ser1028Ter)
c.1964C>A (p.Ser655Ter)
c.1226C>A (p.Ser409Ter)
c.2747C>A (p.Ser916Ter)
c.3011C>A (p.Ser1004Ter)
c.2129-654C>A (n.2129-654C>A)
n.3084C>A
n.3292C>A
c.2501C>A (p.Ser834Ter)
c.1526C>A (p.Ser509Ter)
c.2240C>A (p.Ser747Ter)
c.3218C>A (p.Ser1073Ter)
n.3036C>A
n.3244C>A
 gnomAD v4
1g.197434946C=CA1218068729CRB1c.3083C= (p.Ser1028=)
c.1964C= (p.Ser655=)
c.1226C= (p.Ser409=)
c.2747C= (p.Ser916=)
c.3011C= (p.Ser1004=)
c.2129-654C= (n.2129-654C=)
n.3084C=
n.3292C=
c.2501C= (p.Ser834=)
c.1526C= (p.Ser509=)
c.2240C= (p.Ser747=)
c.3218C= (p.Ser1073=)
n.3036C=
n.3244C=
1g.197434946C>GCA344045302CRB1c.3083C>G (p.Ser1028Ter)
c.1964C>G (p.Ser655Ter)
c.1226C>G (p.Ser409Ter)
c.2747C>G (p.Ser916Ter)
c.3011C>G (p.Ser1004Ter)
c.2129-654C>G (n.2129-654C>G)
n.3084C>G
n.3292C>G
c.2501C>G (p.Ser834Ter)
c.1526C>G (p.Ser509Ter)
c.2240C>G (p.Ser747Ter)
c.3218C>G (p.Ser1073Ter)
n.3036C>G
n.3244C>G
 dbSNP gnomAD v2 gnomAD v4
1g.197434946C>TCA344045304CRB1c.3083C>T (p.Ser1028Leu)
c.1964C>T (p.Ser655Leu)
c.1226C>T (p.Ser409Leu)
c.2747C>T (p.Ser916Leu)
c.3011C>T (p.Ser1004Leu)
c.2129-654C>T (n.2129-654C>T)
n.3084C>T
n.3292C>T
c.2501C>T (p.Ser834Leu)
c.1526C>T (p.Ser509Leu)
c.2240C>T (p.Ser747Leu)
c.3218C>T (p.Ser1073Leu)
n.3036C>T
n.3244C>T
1g.197434947A>CCA422808773CRB1c.3084A>C (p.Ser1028=)
c.1965A>C (p.Ser655=)
c.1227A>C (p.Ser409=)
c.2748A>C (p.Ser916=)
c.3012A>C (p.Ser1004=)
c.2129-653A>C (n.2129-653A>C)
n.3085A>C
n.3293A>C
c.2502A>C (p.Ser834=)
c.1527A>C (p.Ser509=)
c.2241A>C (p.Ser747=)
c.3219A>C (p.Ser1073=)
n.3037A>C
n.3245A>C
1g.197434947A>GCA422808774CRB1c.3084A>G (p.Ser1028=)
c.1965A>G (p.Ser655=)
c.1227A>G (p.Ser409=)
c.2748A>G (p.Ser916=)
c.3012A>G (p.Ser1004=)
c.2129-653A>G (n.2129-653A>G)
n.3085A>G
n.3293A>G
c.2502A>G (p.Ser834=)
c.1527A>G (p.Ser509=)
c.2241A>G (p.Ser747=)
c.3219A>G (p.Ser1073=)
n.3037A>G
n.3245A>G
1g.197434947A>TCA422808776CRB1c.3084A>T (p.Ser1028=)
c.1965A>T (p.Ser655=)
c.1227A>T (p.Ser409=)
c.2748A>T (p.Ser916=)
c.3012A>T (p.Ser1004=)
c.2129-653A>T (n.2129-653A>T)
n.3085A>T
n.3293A>T
c.2502A>T (p.Ser834=)
c.1527A>T (p.Ser509=)
c.2241A>T (p.Ser747=)
c.3219A>T (p.Ser1073=)
n.3037A>T
n.3245A>T
1g.197434948G>ACA1312270CRB1c.3085G>A (p.Val1029Met)
c.1966G>A (p.Val656Met)
c.1228G>A (p.Val410Met)
c.2749G>A (p.Val917Met)
c.3013G>A (p.Val1005Met)
c.2129-652G>A (n.2129-652G>A)
n.3086G>A
n.3294G>A
c.2503G>A (p.Val835Met)
c.1528G>A (p.Val510Met)
c.2242G>A (p.Val748Met)
c.3220G>A (p.Val1074Met)
n.3038G>A
n.3246G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434948G>CCA344045312CRB1c.3085G>C (p.Val1029Leu)
c.1966G>C (p.Val656Leu)
c.1228G>C (p.Val410Leu)
c.2749G>C (p.Val917Leu)
c.3013G>C (p.Val1005Leu)
c.2129-652G>C (n.2129-652G>C)
n.3086G>C
n.3294G>C
c.2503G>C (p.Val835Leu)
c.1528G>C (p.Val510Leu)
c.2242G>C (p.Val748Leu)
c.3220G>C (p.Val1074Leu)
n.3038G>C
n.3246G>C
1g.197434948G=CA1218068730CRB1c.3085G= (p.Val1029=)
c.1966G= (p.Val656=)
c.1228G= (p.Val410=)
c.2749G= (p.Val917=)
c.3013G= (p.Val1005=)
c.2129-652G= (n.2129-652G=)
n.3086G=
n.3294G=
c.2503G= (p.Val835=)
c.1528G= (p.Val510=)
c.2242G= (p.Val748=)
c.3220G= (p.Val1074=)
n.3038G=
n.3246G=
1g.197434948G>TCA344045316CRB1c.3085G>T (p.Val1029Leu)
c.1966G>T (p.Val656Leu)
c.1228G>T (p.Val410Leu)
c.2749G>T (p.Val917Leu)
c.3013G>T (p.Val1005Leu)
c.2129-652G>T (n.2129-652G>T)
n.3086G>T
n.3294G>T
c.2503G>T (p.Val835Leu)
c.1528G>T (p.Val510Leu)
c.2242G>T (p.Val748Leu)
c.3220G>T (p.Val1074Leu)
n.3038G>T
n.3246G>T
1g.197434949T>ACA16621584CRB1c.3086T>A (p.Val1029Glu)
c.1967T>A (p.Val656Glu)
c.1229T>A (p.Val410Glu)
c.2750T>A (p.Val917Glu)
c.3014T>A (p.Val1005Glu)
c.2129-651T>A (n.2129-651T>A)
n.3087T>A
n.3295T>A
c.2504T>A (p.Val835Glu)
c.1529T>A (p.Val510Glu)
c.2243T>A (p.Val748Glu)
c.3221T>A (p.Val1074Glu)
n.3039T>A
n.3247T>A
 ClinVar dbSNP
1g.197434949T>CCA344045342CRB1c.3086T>C (p.Val1029Ala)
c.1967T>C (p.Val656Ala)
c.1229T>C (p.Val410Ala)
c.2750T>C (p.Val917Ala)
c.3014T>C (p.Val1005Ala)
c.2129-651T>C (n.2129-651T>C)
n.3087T>C
n.3295T>C
c.2504T>C (p.Val835Ala)
c.1529T>C (p.Val510Ala)
c.2243T>C (p.Val748Ala)
c.3221T>C (p.Val1074Ala)
n.3039T>C
n.3247T>C
 ClinVar dbSNP
1g.197434949T>GCA344045343CRB1c.3086T>G (p.Val1029Gly)
c.1967T>G (p.Val656Gly)
c.1229T>G (p.Val410Gly)
c.2750T>G (p.Val917Gly)
c.3014T>G (p.Val1005Gly)
c.2129-651T>G (n.2129-651T>G)
n.3087T>G
n.3295T>G
c.2504T>G (p.Val835Gly)
c.1529T>G (p.Val510Gly)
c.2243T>G (p.Val748Gly)
c.3221T>G (p.Val1074Gly)
n.3039T>G
n.3247T>G
1g.197434949T=CA1218068731CRB1c.3086T= (p.Val1029=)
c.1967T= (p.Val656=)
c.1229T= (p.Val410=)
c.2750T= (p.Val917=)
c.3014T= (p.Val1005=)
c.2129-651T= (n.2129-651T=)
n.3087T=
n.3295T=
c.2504T= (p.Val835=)
c.1529T= (p.Val510=)
c.2243T= (p.Val748=)
c.3221T= (p.Val1074=)
n.3039T=
n.3247T=
1g.197434950G>ACA1312271CRB1c.3087G>A (p.Val1029=)
c.1968G>A (p.Val656=)
c.1230G>A (p.Val410=)
c.2751G>A (p.Val917=)
c.3015G>A (p.Val1005=)
c.2129-650G>A (n.2129-650G>A)
n.3088G>A
n.3296G>A
c.2505G>A (p.Val835=)
c.1530G>A (p.Val510=)
c.2244G>A (p.Val748=)
c.3222G>A (p.Val1074=)
n.3040G>A
n.3248G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434950G>CCA422808779CRB1c.3087G>C (p.Val1029=)
c.1968G>C (p.Val656=)
c.1230G>C (p.Val410=)
c.2751G>C (p.Val917=)
c.3015G>C (p.Val1005=)
c.2129-650G>C (n.2129-650G>C)
n.3088G>C
n.3296G>C
c.2505G>C (p.Val835=)
c.1530G>C (p.Val510=)
c.2244G>C (p.Val748=)
c.3222G>C (p.Val1074=)
n.3040G>C
n.3248G>C
1g.197434950G=CA1218068732CRB1c.3087G= (p.Val1029=)
c.1968G= (p.Val656=)
c.1230G= (p.Val410=)
c.2751G= (p.Val917=)
c.3015G= (p.Val1005=)
c.2129-650G= (n.2129-650G=)
n.3088G=
n.3296G=
c.2505G= (p.Val835=)
c.1530G= (p.Val510=)
c.2244G= (p.Val748=)
c.3222G= (p.Val1074=)
n.3040G=
n.3248G=
1g.197434950G>TCA422808781CRB1c.3087G>T (p.Val1029=)
c.1968G>T (p.Val656=)
c.1230G>T (p.Val410=)
c.2751G>T (p.Val917=)
c.3015G>T (p.Val1005=)
c.2129-650G>T (n.2129-650G>T)
n.3088G>T
n.3296G>T
c.2505G>T (p.Val835=)
c.1530G>T (p.Val510=)
c.2244G>T (p.Val748=)
c.3222G>T (p.Val1074=)
n.3040G>T
n.3248G>T
 dbSNP
1g.197434951A>CCA344045348CRB1c.3088A>C (p.Asn1030His)
c.1969A>C (p.Asn657His)
c.1231A>C (p.Asn411His)
c.2752A>C (p.Asn918His)
c.3016A>C (p.Asn1006His)
c.2129-649A>C (n.2129-649A>C)
n.3089A>C
n.3297A>C
c.2506A>C (p.Asn836His)
c.1531A>C (p.Asn511His)
c.2245A>C (p.Asn749His)
c.3223A>C (p.Asn1075His)
n.3041A>C
n.3249A>C
1g.197434951A>GCA344045351CRB1c.3088A>G (p.Asn1030Asp)
c.1969A>G (p.Asn657Asp)
c.1231A>G (p.Asn411Asp)
c.2752A>G (p.Asn918Asp)
c.3016A>G (p.Asn1006Asp)
c.2129-649A>G (n.2129-649A>G)
n.3089A>G
n.3297A>G
c.2506A>G (p.Asn836Asp)
c.1531A>G (p.Asn511Asp)
c.2245A>G (p.Asn749Asp)
c.3223A>G (p.Asn1075Asp)
n.3041A>G
n.3249A>G
1g.197434951A>TCA344045354CRB1c.3088A>T (p.Asn1030Tyr)
c.1969A>T (p.Asn657Tyr)
c.1231A>T (p.Asn411Tyr)
c.2752A>T (p.Asn918Tyr)
c.3016A>T (p.Asn1006Tyr)
c.2129-649A>T (n.2129-649A>T)
n.3089A>T
n.3297A>T
c.2506A>T (p.Asn836Tyr)
c.1531A>T (p.Asn511Tyr)
c.2245A>T (p.Asn749Tyr)
c.3223A>T (p.Asn1075Tyr)
n.3041A>T
n.3249A>T
1g.197434952A>CCA344045361CRB1c.3089A>C (p.Asn1030Thr)
c.1970A>C (p.Asn657Thr)
c.1232A>C (p.Asn411Thr)
c.2753A>C (p.Asn918Thr)
c.3017A>C (p.Asn1006Thr)
c.2129-648A>C (n.2129-648A>C)
n.3090A>C
n.3298A>C
c.2507A>C (p.Asn836Thr)
c.1532A>C (p.Asn511Thr)
c.2246A>C (p.Asn749Thr)
c.3224A>C (p.Asn1075Thr)
n.3042A>C
n.3250A>C
1g.197434952A>GCA344045369CRB1c.3089A>G (p.Asn1030Ser)
c.1970A>G (p.Asn657Ser)
c.1232A>G (p.Asn411Ser)
c.2753A>G (p.Asn918Ser)
c.3017A>G (p.Asn1006Ser)
c.2129-648A>G (n.2129-648A>G)
n.3090A>G
n.3298A>G
c.2507A>G (p.Asn836Ser)
c.1532A>G (p.Asn511Ser)
c.2246A>G (p.Asn749Ser)
c.3224A>G (p.Asn1075Ser)
n.3042A>G
n.3250A>G
1g.197434952A>TCA344045367CRB1c.3089A>T (p.Asn1030Ile)
c.1970A>T (p.Asn657Ile)
c.1232A>T (p.Asn411Ile)
c.2753A>T (p.Asn918Ile)
c.3017A>T (p.Asn1006Ile)
c.2129-648A>T (n.2129-648A>T)
n.3090A>T
n.3298A>T
c.2507A>T (p.Asn836Ile)
c.1532A>T (p.Asn511Ile)
c.2246A>T (p.Asn749Ile)
c.3224A>T (p.Asn1075Ile)
n.3042A>T
n.3250A>T
1g.197434953T>ACA344045374CRB1c.3090T>A (p.Asn1030Lys)
c.1971T>A (p.Asn657Lys)
c.1233T>A (p.Asn411Lys)
c.2754T>A (p.Asn918Lys)
c.3018T>A (p.Asn1006Lys)
c.2129-647T>A (n.2129-647T>A)
n.3091T>A
n.3299T>A
c.2508T>A (p.Asn836Lys)
c.1533T>A (p.Asn511Lys)
c.2247T>A (p.Asn749Lys)
c.3225T>A (p.Asn1075Lys)
n.3043T>A
n.3251T>A
1g.197434953T>CCA422808784CRB1c.3090T>C (p.Asn1030=)
c.1971T>C (p.Asn657=)
c.1233T>C (p.Asn411=)
c.2754T>C (p.Asn918=)
c.3018T>C (p.Asn1006=)
c.2129-647T>C (n.2129-647T>C)
n.3091T>C
n.3299T>C
c.2508T>C (p.Asn836=)
c.1533T>C (p.Asn511=)
c.2247T>C (p.Asn749=)
c.3225T>C (p.Asn1075=)
n.3043T>C
n.3251T>C
1g.197434953T>GCA344045378CRB1c.3090T>G (p.Asn1030Lys)
c.1971T>G (p.Asn657Lys)
c.1233T>G (p.Asn411Lys)
c.2754T>G (p.Asn918Lys)
c.3018T>G (p.Asn1006Lys)
c.2129-647T>G (n.2129-647T>G)
n.3091T>G
n.3299T>G
c.2508T>G (p.Asn836Lys)
c.1533T>G (p.Asn511Lys)
c.2247T>G (p.Asn749Lys)
c.3225T>G (p.Asn1075Lys)
n.3043T>G
n.3251T>G
1g.197434953_197434954insAATCTGCA2564676228CRB1c.3090_3091insAATCTG (p.Asn1030_Asp1031insAsnLeu)
c.1971_1972insAATCTG (p.Asn657_Asp658insAsnLeu)
c.1233_1234insAATCTG (p.Asn411_Asp412insAsnLeu)
c.2754_2755insAATCTG (p.Asn918_Asp919insAsnLeu)
c.3018_3019insAATCTG (p.Asn1006_Asp1007insAsnLeu)
c.2129-647_2129-646insAATCTG (n.2129-647_2129-646insAATCTG)
n.3091_3092insAATCTG
n.3299_3300insAATCTG
c.2508_2509insAATCTG (p.Asn836_Asp837insAsnLeu)
c.1533_1534insAATCTG (p.Asn511_Asp512insAsnLeu)
c.2247_2248insAATCTG (p.Asn749_Asp750insAsnLeu)
c.3225_3226insAATCTG (p.Asn1075_Asp1076insAsnLeu)
n.3043_3044insAATCTG
n.3251_3252insAATCTG
1g.197434954G>ACA344045388CRB1c.3091G>A (p.Asp1031Asn)
c.1972G>A (p.Asp658Asn)
c.1234G>A (p.Asp412Asn)
c.2755G>A (p.Asp919Asn)
c.3019G>A (p.Asp1007Asn)
c.2129-646G>A (n.2129-646G>A)
n.3092G>A
n.3300G>A
c.2509G>A (p.Asp837Asn)
c.1534G>A (p.Asp512Asn)
c.2248G>A (p.Asp750Asn)
c.3226G>A (p.Asp1076Asn)
n.3044G>A
n.3252G>A
 ClinVar dbSNP
1g.197434954G>CCA344045391CRB1c.3091G>C (p.Asp1031His)
c.1972G>C (p.Asp658His)
c.1234G>C (p.Asp412His)
c.2755G>C (p.Asp919His)
c.3019G>C (p.Asp1007His)
c.2129-646G>C (n.2129-646G>C)
n.3092G>C
n.3300G>C
c.2509G>C (p.Asp837His)
c.1534G>C (p.Asp512His)
c.2248G>C (p.Asp750His)
c.3226G>C (p.Asp1076His)
n.3044G>C
n.3252G>C
1g.197434954G>TCA344045396CRB1c.3091G>T (p.Asp1031Tyr)
c.1972G>T (p.Asp658Tyr)
c.1234G>T (p.Asp412Tyr)
c.2755G>T (p.Asp919Tyr)
c.3019G>T (p.Asp1007Tyr)
c.2129-646G>T (n.2129-646G>T)
n.3092G>T
n.3300G>T
c.2509G>T (p.Asp837Tyr)
c.1534G>T (p.Asp512Tyr)
c.2248G>T (p.Asp750Tyr)
c.3226G>T (p.Asp1076Tyr)
n.3044G>T
n.3252G>T
1g.197434955A>CCA344045415CRB1c.3092A>C (p.Asp1031Ala)
c.1973A>C (p.Asp658Ala)
c.1235A>C (p.Asp412Ala)
c.2756A>C (p.Asp919Ala)
c.3020A>C (p.Asp1007Ala)
c.2129-645A>C (n.2129-645A>C)
n.3093A>C
n.3301A>C
c.2510A>C (p.Asp837Ala)
c.1535A>C (p.Asp512Ala)
c.2249A>C (p.Asp750Ala)
c.3227A>C (p.Asp1076Ala)
n.3045A>C
n.3253A>C
1g.197434955A>GCA344045417CRB1c.3092A>G (p.Asp1031Gly)
c.1973A>G (p.Asp658Gly)
c.1235A>G (p.Asp412Gly)
c.2756A>G (p.Asp919Gly)
c.3020A>G (p.Asp1007Gly)
c.2129-645A>G (n.2129-645A>G)
n.3093A>G
n.3301A>G
c.2510A>G (p.Asp837Gly)
c.1535A>G (p.Asp512Gly)
c.2249A>G (p.Asp750Gly)
c.3227A>G (p.Asp1076Gly)
n.3045A>G
n.3253A>G
1g.197434955A>TCA344045418CRB1c.3092A>T (p.Asp1031Val)
c.1973A>T (p.Asp658Val)
c.1235A>T (p.Asp412Val)
c.2756A>T (p.Asp919Val)
c.3020A>T (p.Asp1007Val)
c.2129-645A>T (n.2129-645A>T)
n.3093A>T
n.3301A>T
c.2510A>T (p.Asp837Val)
c.1535A>T (p.Asp512Val)
c.2249A>T (p.Asp750Val)
c.3227A>T (p.Asp1076Val)
n.3045A>T
n.3253A>T
1g.197434955_197434956insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTATCA2510878745CRB1c.3092_3093insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp1031GlufsTer3)
c.1973_1974insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp658GlufsTer3)
c.1235_1236insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp412GlufsTer3)
c.2756_2757insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp919GlufsTer3)
c.3020_3021insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp1007GlufsTer3)
c.2129-645_2129-644insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (n.2129-645_2129-644insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT)
n.3093_3094insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT
n.3301_3302insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT
c.2510_2511insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp837GlufsTer3)
c.1535_1536insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp512GlufsTer3)
c.2249_2250insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp750GlufsTer3)
c.3227_3228insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp1076GlufsTer3)
n.3045_3046insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT
n.3253_3254insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT
1g.197434956T>ACA344045426CRB1c.3093T>A (p.Asp1031Glu)
c.1974T>A (p.Asp658Glu)
c.1236T>A (p.Asp412Glu)
c.2757T>A (p.Asp919Glu)
c.3021T>A (p.Asp1007Glu)
c.2129-644T>A (n.2129-644T>A)
n.3094T>A
n.3302T>A
c.2511T>A (p.Asp837Glu)
c.1536T>A (p.Asp512Glu)
c.2250T>A (p.Asp750Glu)
c.3228T>A (p.Asp1076Glu)
n.3046T>A
n.3254T>A
 gnomAD v4
1g.197434956T>CCA422808787CRB1c.3093T>C (p.Asp1031=)
c.1974T>C (p.Asp658=)
c.1236T>C (p.Asp412=)
c.2757T>C (p.Asp919=)
c.3021T>C (p.Asp1007=)
c.2129-644T>C (n.2129-644T>C)
n.3094T>C
n.3302T>C
c.2511T>C (p.Asp837=)
c.1536T>C (p.Asp512=)
c.2250T>C (p.Asp750=)
c.3228T>C (p.Asp1076=)
n.3046T>C
n.3254T>C
 ClinVar dbSNP
1g.197434956T>GCA344045431CRB1c.3093T>G (p.Asp1031Glu)
c.1974T>G (p.Asp658Glu)
c.1236T>G (p.Asp412Glu)
c.2757T>G (p.Asp919Glu)
c.3021T>G (p.Asp1007Glu)
c.2129-644T>G (n.2129-644T>G)
n.3094T>G
n.3302T>G
c.2511T>G (p.Asp837Glu)
c.1536T>G (p.Asp512Glu)
c.2250T>G (p.Asp750Glu)
c.3228T>G (p.Asp1076Glu)
n.3046T>G
n.3254T>G
1g.197434956T=CA1218068733CRB1c.3093T= (p.Asp1031=)
c.1974T= (p.Asp658=)
c.1236T= (p.Asp412=)
c.2757T= (p.Asp919=)
c.3021T= (p.Asp1007=)
c.2129-644T= (n.2129-644T=)
n.3094T=
n.3302T=
c.2511T= (p.Asp837=)
c.1536T= (p.Asp512=)
c.2250T= (p.Asp750=)
c.3228T= (p.Asp1076=)
n.3046T=
n.3254T=
1g.197434957G>ACA344045443CRB1c.3094G>A (p.Gly1032Ser)
c.1975G>A (p.Gly659Ser)
c.1237G>A (p.Gly413Ser)
c.2758G>A (p.Gly920Ser)
c.3022G>A (p.Gly1008Ser)
c.2129-643G>A (n.2129-643G>A)
n.3095G>A
n.3303G>A
c.2512G>A (p.Gly838Ser)
c.1537G>A (p.Gly513Ser)
c.2251G>A (p.Gly751Ser)
c.3229G>A (p.Gly1077Ser)
n.3047G>A
n.3255G>A
 COSMIC COSMIC
1g.197434957G>CCA344045440CRB1c.3094G>C (p.Gly1032Arg)
c.1975G>C (p.Gly659Arg)
c.1237G>C (p.Gly413Arg)
c.2758G>C (p.Gly920Arg)
c.3022G>C (p.Gly1008Arg)
c.2129-643G>C (n.2129-643G>C)
n.3095G>C
n.3303G>C
c.2512G>C (p.Gly838Arg)
c.1537G>C (p.Gly513Arg)
c.2251G>C (p.Gly751Arg)
c.3229G>C (p.Gly1077Arg)
n.3047G>C
n.3255G>C
1g.197434957G>TCA344045436CRB1c.3094G>T (p.Gly1032Cys)
c.1975G>T (p.Gly659Cys)
c.1237G>T (p.Gly413Cys)
c.2758G>T (p.Gly920Cys)
c.3022G>T (p.Gly1008Cys)
c.2129-643G>T (n.2129-643G>T)
n.3095G>T
n.3303G>T
c.2512G>T (p.Gly838Cys)
c.1537G>T (p.Gly513Cys)
c.2251G>T (p.Gly751Cys)
c.3229G>T (p.Gly1077Cys)
n.3047G>T
n.3255G>T
1g.197434958G>ACA1312272CRB1c.3095G>A (p.Gly1032Asp)
c.1976G>A (p.Gly659Asp)
c.1238G>A (p.Gly413Asp)
c.2759G>A (p.Gly920Asp)
c.3023G>A (p.Gly1008Asp)
c.2129-642G>A (n.2129-642G>A)
n.3096G>A
n.3304G>A
c.2513G>A (p.Gly838Asp)
c.1538G>A (p.Gly513Asp)
c.2252G>A (p.Gly751Asp)
c.3230G>A (p.Gly1077Asp)
n.3048G>A
n.3256G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197434958G>CCA344045447CRB1c.3095G>C (p.Gly1032Ala)
c.1976G>C (p.Gly659Ala)
c.1238G>C (p.Gly413Ala)
c.2759G>C (p.Gly920Ala)
c.3023G>C (p.Gly1008Ala)
c.2129-642G>C (n.2129-642G>C)
n.3096G>C
n.3304G>C
c.2513G>C (p.Gly838Ala)
c.1538G>C (p.Gly513Ala)
c.2252G>C (p.Gly751Ala)
c.3230G>C (p.Gly1077Ala)
n.3048G>C
n.3256G>C
1g.197434958G=CA1147864130CRB1c.3095G= (p.Gly1032=)
c.1976G= (p.Gly659=)
c.1238G= (p.Gly413=)
c.2759G= (p.Gly920=)
c.3023G= (p.Gly1008=)
c.2129-642G= (n.2129-642G=)
n.3096G=
n.3304G=
c.2513G= (p.Gly838=)
c.1538G= (p.Gly513=)
c.2252G= (p.Gly751=)
c.3230G= (p.Gly1077=)
n.3048G=
n.3256G=
1g.197434958G>TCA344045451CRB1c.3095G>T (p.Gly1032Val)
c.1976G>T (p.Gly659Val)
c.1238G>T (p.Gly413Val)
c.2759G>T (p.Gly920Val)
c.3023G>T (p.Gly1008Val)
c.2129-642G>T (n.2129-642G>T)
n.3096G>T
n.3304G>T
c.2513G>T (p.Gly838Val)
c.1538G>T (p.Gly513Val)
c.2252G>T (p.Gly751Val)
c.3230G>T (p.Gly1077Val)
n.3048G>T
n.3256G>T
1g.197434959C>ACA422808788CRB1c.3096C>A (p.Gly1032=)
c.1977C>A (p.Gly659=)
c.1239C>A (p.Gly413=)
c.2760C>A (p.Gly920=)
c.3024C>A (p.Gly1008=)
c.2129-641C>A (n.2129-641C>A)
n.3097C>A
n.3305C>A
c.2514C>A (p.Gly838=)
c.1539C>A (p.Gly513=)
c.2253C>A (p.Gly751=)
c.3231C>A (p.Gly1077=)
n.3049C>A
n.3257C>A
1g.197434959C=CA1218068734CRB1c.3096C= (p.Gly1032=)
c.1977C= (p.Gly659=)
c.1239C= (p.Gly413=)
c.2760C= (p.Gly920=)
c.3024C= (p.Gly1008=)
c.2129-641C= (n.2129-641C=)
n.3097C=
n.3305C=
c.2514C= (p.Gly838=)
c.1539C= (p.Gly513=)
c.2253C= (p.Gly751=)
c.3231C= (p.Gly1077=)
n.3049C=
n.3257C=
1g.197434959C>GCA422808789CRB1c.3096C>G (p.Gly1032=)
c.1977C>G (p.Gly659=)
c.1239C>G (p.Gly413=)
c.2760C>G (p.Gly920=)
c.3024C>G (p.Gly1008=)
c.2129-641C>G (n.2129-641C>G)
n.3097C>G
n.3305C>G
c.2514C>G (p.Gly838=)
c.1539C>G (p.Gly513=)
c.2253C>G (p.Gly751=)
c.3231C>G (p.Gly1077=)
n.3049C>G
n.3257C>G
1g.197434959C>TCA1312273CRB1c.3096C>T (p.Gly1032=)
c.1977C>T (p.Gly659=)
c.1239C>T (p.Gly413=)
c.2760C>T (p.Gly920=)
c.3024C>T (p.Gly1008=)
c.2129-641C>T (n.2129-641C>T)
n.3097C>T
n.3305C>T
c.2514C>T (p.Gly838=)
c.1539C>T (p.Gly513=)
c.2253C>T (p.Gly751=)
c.3231C>T (p.Gly1077=)
n.3049C>T
n.3257C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434960A>CCA344045460CRB1c.3097A>C (p.Thr1033Pro)
c.1978A>C (p.Thr660Pro)
c.1240A>C (p.Thr414Pro)
c.2761A>C (p.Thr921Pro)
c.3025A>C (p.Thr1009Pro)
c.2129-640A>C (n.2129-640A>C)
n.3098A>C
n.3306A>C
c.2515A>C (p.Thr839Pro)
c.1540A>C (p.Thr514Pro)
c.2254A>C (p.Thr752Pro)
c.3232A>C (p.Thr1078Pro)
n.3050A>C
n.3258A>C
1g.197434960A>GCA344045464CRB1c.3097A>G (p.Thr1033Ala)
c.1978A>G (p.Thr660Ala)
c.1240A>G (p.Thr414Ala)
c.2761A>G (p.Thr921Ala)
c.3025A>G (p.Thr1009Ala)
c.2129-640A>G (n.2129-640A>G)
n.3098A>G
n.3306A>G
c.2515A>G (p.Thr839Ala)
c.1540A>G (p.Thr514Ala)
c.2254A>G (p.Thr752Ala)
c.3232A>G (p.Thr1078Ala)
n.3050A>G
n.3258A>G
1g.197434960A>TCA344045469CRB1c.3097A>T (p.Thr1033Ser)
c.1978A>T (p.Thr660Ser)
c.1240A>T (p.Thr414Ser)
c.2761A>T (p.Thr921Ser)
c.3025A>T (p.Thr1009Ser)
c.2129-640A>T (n.2129-640A>T)
n.3098A>T
n.3306A>T
c.2515A>T (p.Thr839Ser)
c.1540A>T (p.Thr514Ser)
c.2254A>T (p.Thr752Ser)
c.3232A>T (p.Thr1078Ser)
n.3050A>T
n.3258A>T
1g.197434961C>ACA344045475CRB1c.3098C>A (p.Thr1033Lys)
c.1979C>A (p.Thr660Lys)
c.1241C>A (p.Thr414Lys)
c.2762C>A (p.Thr921Lys)
c.3026C>A (p.Thr1009Lys)
c.2129-639C>A (n.2129-639C>A)
n.3099C>A
n.3307C>A
c.2516C>A (p.Thr839Lys)
c.1541C>A (p.Thr514Lys)
c.2255C>A (p.Thr752Lys)
c.3233C>A (p.Thr1078Lys)
n.3051C>A
n.3259C>A
1g.197434961C=CA1218068735CRB1c.3098C= (p.Thr1033=)
c.1979C= (p.Thr660=)
c.1241C= (p.Thr414=)
c.2762C= (p.Thr921=)
c.3026C= (p.Thr1009=)
c.2129-639C= (n.2129-639C=)
n.3099C=
n.3307C=
c.2516C= (p.Thr839=)
c.1541C= (p.Thr514=)
c.2255C= (p.Thr752=)
c.3233C= (p.Thr1078=)
n.3051C=
n.3259C=
1g.197434961C>GCA344045476CRB1c.3098C>G (p.Thr1033Arg)
c.1979C>G (p.Thr660Arg)
c.1241C>G (p.Thr414Arg)
c.2762C>G (p.Thr921Arg)
c.3026C>G (p.Thr1009Arg)
c.2129-639C>G (n.2129-639C>G)
n.3099C>G
n.3307C>G
c.2516C>G (p.Thr839Arg)
c.1541C>G (p.Thr514Arg)
c.2255C>G (p.Thr752Arg)
c.3233C>G (p.Thr1078Arg)
n.3051C>G
n.3259C>G
1g.197434961C>TCA1312274CRB1c.3098C>T (p.Thr1033Ile)
c.1979C>T (p.Thr660Ile)
c.1241C>T (p.Thr414Ile)
c.2762C>T (p.Thr921Ile)
c.3026C>T (p.Thr1009Ile)
c.2129-639C>T (n.2129-639C>T)
n.3099C>T
n.3307C>T
c.2516C>T (p.Thr839Ile)
c.1541C>T (p.Thr514Ile)
c.2255C>T (p.Thr752Ile)
c.3233C>T (p.Thr1078Ile)
n.3051C>T
n.3259C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.197434962A>CCA422808794CRB1c.3099A>C (p.Thr1033=)
c.1980A>C (p.Thr660=)
c.1242A>C (p.Thr414=)
c.2763A>C (p.Thr921=)
c.3027A>C (p.Thr1009=)
c.2129-638A>C (n.2129-638A>C)
n.3100A>C
n.3308A>C
c.2517A>C (p.Thr839=)
c.1542A>C (p.Thr514=)
c.2256A>C (p.Thr752=)
c.3234A>C (p.Thr1078=)
n.3052A>C
n.3260A>C
 dbSNP
1g.197434962A>GCA422808795CRB1c.3099A>G (p.Thr1033=)
c.1980A>G (p.Thr660=)
c.1242A>G (p.Thr414=)
c.2763A>G (p.Thr921=)
c.3027A>G (p.Thr1009=)
c.2129-638A>G (n.2129-638A>G)
n.3100A>G
n.3308A>G
c.2517A>G (p.Thr839=)
c.1542A>G (p.Thr514=)
c.2256A>G (p.Thr752=)
c.3234A>G (p.Thr1078=)
n.3052A>G
n.3260A>G
 ClinVar dbSNP gnomAD v4
1g.197434962A>TCA422808796CRB1c.3099A>T (p.Thr1033=)
c.1980A>T (p.Thr660=)
c.1242A>T (p.Thr414=)
c.2763A>T (p.Thr921=)
c.3027A>T (p.Thr1009=)
c.2129-638A>T (n.2129-638A>T)
n.3100A>T
n.3308A>T
c.2517A>T (p.Thr839=)
c.1542A>T (p.Thr514=)
c.2256A>T (p.Thr752=)
c.3234A>T (p.Thr1078=)
n.3052A>T
n.3260A>T
 gnomAD v4
1g.197434963T>ACA344045477CRB1c.3100T>A (p.Trp1034Arg)
c.1981T>A (p.Trp661Arg)
c.1243T>A (p.Trp415Arg)
c.2764T>A (p.Trp922Arg)
c.3028T>A (p.Trp1010Arg)
c.2129-637T>A (n.2129-637T>A)
n.3101T>A
n.3309T>A
c.2518T>A (p.Trp840Arg)
c.1543T>A (p.Trp515Arg)
c.2257T>A (p.Trp753Arg)
c.3235T>A (p.Trp1079Arg)
n.3053T>A
n.3261T>A
1g.197434963T>CCA344045480CRB1c.3100T>C (p.Trp1034Arg)
c.1981T>C (p.Trp661Arg)
c.1243T>C (p.Trp415Arg)
c.2764T>C (p.Trp922Arg)
c.3028T>C (p.Trp1010Arg)
c.2129-637T>C (n.2129-637T>C)
n.3101T>C
n.3309T>C
c.2518T>C (p.Trp840Arg)
c.1543T>C (p.Trp515Arg)
c.2257T>C (p.Trp753Arg)
c.3235T>C (p.Trp1079Arg)
n.3053T>C
n.3261T>C
 ClinVar dbSNP
1g.197434963T>GCA344045484CRB1c.3100T>G (p.Trp1034Gly)
c.1981T>G (p.Trp661Gly)
c.1243T>G (p.Trp415Gly)
c.2764T>G (p.Trp922Gly)
c.3028T>G (p.Trp1010Gly)
c.2129-637T>G (n.2129-637T>G)
n.3101T>G
n.3309T>G
c.2518T>G (p.Trp840Gly)
c.1543T>G (p.Trp515Gly)
c.2257T>G (p.Trp753Gly)
c.3235T>G (p.Trp1079Gly)
n.3053T>G
n.3261T>G
1g.197434963T=CA1218068736CRB1c.3100T= (p.Trp1034=)
c.1981T= (p.Trp661=)
c.1243T= (p.Trp415=)
c.2764T= (p.Trp922=)
c.3028T= (p.Trp1010=)
c.2129-637T= (n.2129-637T=)
n.3101T=
n.3309T=
c.2518T= (p.Trp840=)
c.1543T= (p.Trp515=)
c.2257T= (p.Trp753=)
c.3235T= (p.Trp1079=)
n.3053T=
n.3261T=
1g.197434964G>ACA344045514CRB1c.3101G>A (p.Trp1034Ter)
c.1982G>A (p.Trp661Ter)
c.1244G>A (p.Trp415Ter)
c.2765G>A (p.Trp922Ter)
c.3029G>A (p.Trp1010Ter)
c.2129-636G>A (n.2129-636G>A)
n.3102G>A
n.3310G>A
c.2519G>A (p.Trp840Ter)
c.1544G>A (p.Trp515Ter)
c.2258G>A (p.Trp753Ter)
c.3236G>A (p.Trp1079Ter)
n.3054G>A
n.3262G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197434964G>CCA344045488CRB1c.3101G>C (p.Trp1034Ser)
c.1982G>C (p.Trp661Ser)
c.1244G>C (p.Trp415Ser)
c.2765G>C (p.Trp922Ser)
c.3029G>C (p.Trp1010Ser)
c.2129-636G>C (n.2129-636G>C)
n.3102G>C
n.3310G>C
c.2519G>C (p.Trp840Ser)
c.1544G>C (p.Trp515Ser)
c.2258G>C (p.Trp753Ser)
c.3236G>C (p.Trp1079Ser)
n.3054G>C
n.3262G>C
1g.197434964G=CA1218068737CRB1c.3101G= (p.Trp1034=)
c.1982G= (p.Trp661=)
c.1244G= (p.Trp415=)
c.2765G= (p.Trp922=)
c.3029G= (p.Trp1010=)
c.2129-636G= (n.2129-636G=)
n.3102G=
n.3310G=
c.2519G= (p.Trp840=)
c.1544G= (p.Trp515=)
c.2258G= (p.Trp753=)
c.3236G= (p.Trp1079=)
n.3054G=
n.3262G=
1g.197434964G>TCA344045491CRB1c.3101G>T (p.Trp1034Leu)
c.1982G>T (p.Trp661Leu)
c.1244G>T (p.Trp415Leu)
c.2765G>T (p.Trp922Leu)
c.3029G>T (p.Trp1010Leu)
c.2129-636G>T (n.2129-636G>T)
n.3102G>T
n.3310G>T
c.2519G>T (p.Trp840Leu)
c.1544G>T (p.Trp515Leu)
c.2258G>T (p.Trp753Leu)
c.3236G>T (p.Trp1079Leu)
n.3054G>T
n.3262G>T
 dbSNP
1g.197434965G>ACA344045516CRB1c.3102G>A (p.Trp1034Ter)
c.1983G>A (p.Trp661Ter)
c.1245G>A (p.Trp415Ter)
c.2766G>A (p.Trp922Ter)
c.3030G>A (p.Trp1010Ter)
c.2129-635G>A (n.2129-635G>A)
n.3103G>A
n.3311G>A
c.2520G>A (p.Trp840Ter)
c.1545G>A (p.Trp515Ter)
c.2259G>A (p.Trp753Ter)
c.3237G>A (p.Trp1079Ter)
n.3055G>A
n.3263G>A
 ClinVar dbSNP COSMIC
1g.197434965G>CCA344045518CRB1c.3102G>C (p.Trp1034Cys)
c.1983G>C (p.Trp661Cys)
c.1245G>C (p.Trp415Cys)
c.2766G>C (p.Trp922Cys)
c.3030G>C (p.Trp1010Cys)
c.2129-635G>C (n.2129-635G>C)
n.3103G>C
n.3311G>C
c.2520G>C (p.Trp840Cys)
c.1545G>C (p.Trp515Cys)
c.2259G>C (p.Trp753Cys)
c.3237G>C (p.Trp1079Cys)
n.3055G>C
n.3263G>C
1g.197434965G>TCA344045523CRB1c.3102G>T (p.Trp1034Cys)
c.1983G>T (p.Trp661Cys)
c.1245G>T (p.Trp415Cys)
c.2766G>T (p.Trp922Cys)
c.3030G>T (p.Trp1010Cys)
c.2129-635G>T (n.2129-635G>T)
n.3103G>T
n.3311G>T
c.2520G>T (p.Trp840Cys)
c.1545G>T (p.Trp515Cys)
c.2259G>T (p.Trp753Cys)
c.3237G>T (p.Trp1079Cys)
n.3055G>T
n.3263G>T
1g.197434966C>ACA344045530CRB1c.3103C>A (p.His1035Asn)
c.1984C>A (p.His662Asn)
c.1246C>A (p.His416Asn)
c.2767C>A (p.His923Asn)
c.3031C>A (p.His1011Asn)
c.2129-634C>A (n.2129-634C>A)
n.3104C>A
n.3312C>A
c.2521C>A (p.His841Asn)
c.1546C>A (p.His516Asn)
c.2260C>A (p.His754Asn)
c.3238C>A (p.His1080Asn)
n.3056C>A
n.3264C>A
1g.197434966C=CA1218068738CRB1c.3103C= (p.His1035=)
c.1984C= (p.His662=)
c.1246C= (p.His416=)
c.2767C= (p.His923=)
c.3031C= (p.His1011=)
c.2129-634C= (n.2129-634C=)
n.3104C=
n.3312C=
c.2521C= (p.His841=)
c.1546C= (p.His516=)
c.2260C= (p.His754=)
c.3238C= (p.His1080=)
n.3056C=
n.3264C=
1g.197434966C>GCA344045554CRB1c.3103C>G (p.His1035Asp)
c.1984C>G (p.His662Asp)
c.1246C>G (p.His416Asp)
c.2767C>G (p.His923Asp)
c.3031C>G (p.His1011Asp)
c.2129-634C>G (n.2129-634C>G)
n.3104C>G
n.3312C>G
c.2521C>G (p.His841Asp)
c.1546C>G (p.His516Asp)
c.2260C>G (p.His754Asp)
c.3238C>G (p.His1080Asp)
n.3056C>G
n.3264C>G
1g.197434966C>TCA1312275CRB1c.3103C>T (p.His1035Tyr)
c.1984C>T (p.His662Tyr)
c.1246C>T (p.His416Tyr)
c.2767C>T (p.His923Tyr)
c.3031C>T (p.His1011Tyr)
c.2129-634C>T (n.2129-634C>T)
n.3104C>T
n.3312C>T
c.2521C>T (p.His841Tyr)
c.1546C>T (p.His516Tyr)
c.2260C>T (p.His754Tyr)
c.3238C>T (p.His1080Tyr)
n.3056C>T
n.3264C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434967A>CCA344045573CRB1c.3104A>C (p.His1035Pro)
c.1985A>C (p.His662Pro)
c.1247A>C (p.His416Pro)
c.2768A>C (p.His923Pro)
c.3032A>C (p.His1011Pro)
c.2129-633A>C (n.2129-633A>C)
n.3105A>C
n.3313A>C
c.2522A>C (p.His841Pro)
c.1547A>C (p.His516Pro)
c.2261A>C (p.His754Pro)
c.3239A>C (p.His1080Pro)
n.3057A>C
n.3265A>C
1g.197434967A>GCA344045576CRB1c.3104A>G (p.His1035Arg)
c.1985A>G (p.His662Arg)
c.1247A>G (p.His416Arg)
c.2768A>G (p.His923Arg)
c.3032A>G (p.His1011Arg)
c.2129-633A>G (n.2129-633A>G)
n.3105A>G
n.3313A>G
c.2522A>G (p.His841Arg)
c.1547A>G (p.His516Arg)
c.2261A>G (p.His754Arg)
c.3239A>G (p.His1080Arg)
n.3057A>G
n.3265A>G
1g.197434967A>TCA344045581CRB1c.3104A>T (p.His1035Leu)
c.1985A>T (p.His662Leu)
c.1247A>T (p.His416Leu)
c.2768A>T (p.His923Leu)
c.3032A>T (p.His1011Leu)
c.2129-633A>T (n.2129-633A>T)
n.3105A>T
n.3313A>T
c.2522A>T (p.His841Leu)
c.1547A>T (p.His516Leu)
c.2261A>T (p.His754Leu)
c.3239A>T (p.His1080Leu)
n.3057A>T
n.3265A>T
1g.197434968C>ACA344045584CRB1c.3105C>A (p.His1035Gln)
c.1986C>A (p.His662Gln)
c.1248C>A (p.His416Gln)
c.2769C>A (p.His923Gln)
c.3033C>A (p.His1011Gln)
c.2129-632C>A (n.2129-632C>A)
n.3106C>A
n.3314C>A
c.2523C>A (p.His841Gln)
c.1548C>A (p.His516Gln)
c.2262C>A (p.His754Gln)
c.3240C>A (p.His1080Gln)
n.3058C>A
n.3266C>A
1g.197434968C=CA1145356366CRB1c.3105C= (p.His1035=)
c.1986C= (p.His662=)
c.1248C= (p.His416=)
c.2769C= (p.His923=)
c.3033C= (p.His1011=)
c.2129-632C= (n.2129-632C=)
n.3106C=
n.3314C=
c.2523C= (p.His841=)
c.1548C= (p.His516=)
c.2262C= (p.His754=)
c.3240C= (p.His1080=)
n.3058C=
n.3266C=
1g.197434968C>GCA344045587CRB1c.3105C>G (p.His1035Gln)
c.1986C>G (p.His662Gln)
c.1248C>G (p.His416Gln)
c.2769C>G (p.His923Gln)
c.3033C>G (p.His1011Gln)
c.2129-632C>G (n.2129-632C>G)
n.3106C>G
n.3314C>G
c.2523C>G (p.His841Gln)
c.1548C>G (p.His516Gln)
c.2262C>G (p.His754Gln)
c.3240C>G (p.His1080Gln)
n.3058C>G
n.3266C>G
1g.197434968C>TCA1312276CRB1c.3105C>T (p.His1035=)
c.1986C>T (p.His662=)
c.1248C>T (p.His416=)
c.2769C>T (p.His923=)
c.3033C>T (p.His1011=)
c.2129-632C>T (n.2129-632C>T)
n.3106C>T
n.3314C>T
c.2523C>T (p.His841=)
c.1548C>T (p.His516=)
c.2262C>T (p.His754=)
c.3240C>T (p.His1080=)
n.3058C>T
n.3266C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434969G>ACA1312277CRB1c.3106G>A (p.Glu1036Lys)
c.1987G>A (p.Glu663Lys)
c.1249G>A (p.Glu417Lys)
c.2770G>A (p.Glu924Lys)
c.3034G>A (p.Glu1012Lys)
c.2129-631G>A (n.2129-631G>A)
n.3107G>A
n.3315G>A
c.2524G>A (p.Glu842Lys)
c.1549G>A (p.Glu517Lys)
c.2263G>A (p.Glu755Lys)
c.3241G>A (p.Glu1081Lys)
n.3059G>A
n.3267G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.197434969G>CCA344045600CRB1c.3106G>C (p.Glu1036Gln)
c.1987G>C (p.Glu663Gln)
c.1249G>C (p.Glu417Gln)
c.2770G>C (p.Glu924Gln)
c.3034G>C (p.Glu1012Gln)
c.2129-631G>C (n.2129-631G>C)
n.3107G>C
n.3315G>C
c.2524G>C (p.Glu842Gln)
c.1549G>C (p.Glu517Gln)
c.2263G>C (p.Glu755Gln)
c.3241G>C (p.Glu1081Gln)
n.3059G>C
n.3267G>C
1g.197434969G=CA1147023661CRB1c.3106G= (p.Glu1036=)
c.1987G= (p.Glu663=)
c.1249G= (p.Glu417=)
c.2770G= (p.Glu924=)
c.3034G= (p.Glu1012=)
c.2129-631G= (n.2129-631G=)
n.3107G=
n.3315G=
c.2524G= (p.Glu842=)
c.1549G= (p.Glu517=)
c.2263G= (p.Glu755=)
c.3241G= (p.Glu1081=)
n.3059G=
n.3267G=
1g.197434969G>TCA344045596CRB1c.3106G>T (p.Glu1036Ter)
c.1987G>T (p.Glu663Ter)
c.1249G>T (p.Glu417Ter)
c.2770G>T (p.Glu924Ter)
c.3034G>T (p.Glu1012Ter)
c.2129-631G>T (n.2129-631G>T)
n.3107G>T
n.3315G>T
c.2524G>T (p.Glu842Ter)
c.1549G>T (p.Glu517Ter)
c.2263G>T (p.Glu755Ter)
c.3241G>T (p.Glu1081Ter)
n.3059G>T
n.3267G>T
 COSMIC
1g.197434970A=CA1148378936CRB1c.3107A= (p.Glu1036=)
c.1988A= (p.Glu663=)
c.1250A= (p.Glu417=)
c.2771A= (p.Glu924=)
c.3035A= (p.Glu1012=)
c.2129-630A= (n.2129-630A=)
n.3108A=
n.3316A=
c.2525A= (p.Glu842=)
c.1550A= (p.Glu517=)
c.2264A= (p.Glu755=)
c.3242A= (p.Glu1081=)
n.3060A=
n.3268A=
1g.197434970A>CCA1312278CRB1c.3107A>C (p.Glu1036Ala)
c.1988A>C (p.Glu663Ala)
c.1250A>C (p.Glu417Ala)
c.2771A>C (p.Glu924Ala)
c.3035A>C (p.Glu1012Ala)
c.2129-630A>C (n.2129-630A>C)
n.3108A>C
n.3316A>C
c.2525A>C (p.Glu842Ala)
c.1550A>C (p.Glu517Ala)
c.2264A>C (p.Glu755Ala)
c.3242A>C (p.Glu1081Ala)
n.3060A>C
n.3268A>C
 dbSNP ExAC gnomAD v2
1g.197434970A>GCA344045628CRB1c.3107A>G (p.Glu1036Gly)
c.1988A>G (p.Glu663Gly)
c.1250A>G (p.Glu417Gly)
c.2771A>G (p.Glu924Gly)
c.3035A>G (p.Glu1012Gly)
c.2129-630A>G (n.2129-630A>G)
n.3108A>G
n.3316A>G
c.2525A>G (p.Glu842Gly)
c.1550A>G (p.Glu517Gly)
c.2264A>G (p.Glu755Gly)
c.3242A>G (p.Glu1081Gly)
n.3060A>G
n.3268A>G
 gnomAD v4
1g.197434970A>TCA344045624CRB1c.3107A>T (p.Glu1036Val)
c.1988A>T (p.Glu663Val)
c.1250A>T (p.Glu417Val)
c.2771A>T (p.Glu924Val)
c.3035A>T (p.Glu1012Val)
c.2129-630A>T (n.2129-630A>T)
n.3108A>T
n.3316A>T
c.2525A>T (p.Glu842Val)
c.1550A>T (p.Glu517Val)
c.2264A>T (p.Glu755Val)
c.3242A>T (p.Glu1081Val)
n.3060A>T
n.3268A>T
1g.197434971A>CCA344045630CRB1c.3108A>C (p.Glu1036Asp)
c.1989A>C (p.Glu663Asp)
c.1251A>C (p.Glu417Asp)
c.2772A>C (p.Glu924Asp)
c.3036A>C (p.Glu1012Asp)
c.2129-629A>C (n.2129-629A>C)
n.3109A>C
n.3317A>C
c.2526A>C (p.Glu842Asp)
c.1551A>C (p.Glu517Asp)
c.2265A>C (p.Glu755Asp)
c.3243A>C (p.Glu1081Asp)
n.3061A>C
n.3269A>C
1g.197434971A>GCA422808808CRB1c.3108A>G (p.Glu1036=)
c.1989A>G (p.Glu663=)
c.1251A>G (p.Glu417=)
c.2772A>G (p.Glu924=)
c.3036A>G (p.Glu1012=)
c.2129-629A>G (n.2129-629A>G)
n.3109A>G
n.3317A>G
c.2526A>G (p.Glu842=)
c.1551A>G (p.Glu517=)
c.2265A>G (p.Glu755=)
c.3243A>G (p.Glu1081=)
n.3061A>G
n.3269A>G
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
1g.197434971A>TCA344045634CRB1c.3108A>T (p.Glu1036Asp)
c.1989A>T (p.Glu663Asp)
c.1251A>T (p.Glu417Asp)
c.2772A>T (p.Glu924Asp)
c.3036A>T (p.Glu1012Asp)
c.2129-629A>T (n.2129-629A>T)
n.3109A>T
n.3317A>T
c.2526A>T (p.Glu842Asp)
c.1551A>T (p.Glu517Asp)
c.2265A>T (p.Glu755Asp)
c.3243A>T (p.Glu1081Asp)
n.3061A>T
n.3269A>T
1g.197434972G>ACA344045650CRB1c.3109G>A (p.Val1037Met)
c.1990G>A (p.Val664Met)
c.1252G>A (p.Val418Met)
c.2773G>A (p.Val925Met)
c.3037G>A (p.Val1013Met)
c.2129-628G>A (n.2129-628G>A)
n.3110G>A
n.3318G>A
c.2527G>A (p.Val843Met)
c.1552G>A (p.Val518Met)
c.2266G>A (p.Val756Met)
c.3244G>A (p.Val1082Met)
n.3062G>A
n.3270G>A
1g.197434972G>CCA344045651CRB1c.3109G>C (p.Val1037Leu)
c.1990G>C (p.Val664Leu)
c.1252G>C (p.Val418Leu)
c.2773G>C (p.Val925Leu)
c.3037G>C (p.Val1013Leu)
c.2129-628G>C (n.2129-628G>C)
n.3110G>C
n.3318G>C
c.2527G>C (p.Val843Leu)
c.1552G>C (p.Val518Leu)
c.2266G>C (p.Val756Leu)
c.3244G>C (p.Val1082Leu)
n.3062G>C
n.3270G>C
1g.197434972G=CA1218068739CRB1c.3109G= (p.Val1037=)
c.1990G= (p.Val664=)
c.1252G= (p.Val418=)
c.2773G= (p.Val925=)
c.3037G= (p.Val1013=)
c.2129-628G= (n.2129-628G=)
n.3110G=
n.3318G=
c.2527G= (p.Val843=)
c.1552G= (p.Val518=)
c.2266G= (p.Val756=)
c.3244G= (p.Val1082=)
n.3062G=
n.3270G=
1g.197434972G>TCA344045655CRB1c.3109G>T (p.Val1037Leu)
c.1990G>T (p.Val664Leu)
c.1252G>T (p.Val418Leu)
c.2773G>T (p.Val925Leu)
c.3037G>T (p.Val1013Leu)
c.2129-628G>T (n.2129-628G>T)
n.3110G>T
n.3318G>T
c.2527G>T (p.Val843Leu)
c.1552G>T (p.Val518Leu)
c.2266G>T (p.Val756Leu)
c.3244G>T (p.Val1082Leu)
n.3062G>T
n.3270G>T
1g.197434973T>ACA344045658CRB1c.3110T>A (p.Val1037Glu)
c.1991T>A (p.Val664Glu)
c.1253T>A (p.Val418Glu)
c.2774T>A (p.Val925Glu)
c.3038T>A (p.Val1013Glu)
c.2129-627T>A (n.2129-627T>A)
n.3111T>A
n.3319T>A
c.2528T>A (p.Val843Glu)
c.1553T>A (p.Val518Glu)
c.2267T>A (p.Val756Glu)
c.3245T>A (p.Val1082Glu)
n.3063T>A
n.3271T>A
1g.197434973T>CCA35907029CRB1c.3110T>C (p.Val1037Ala)
c.1991T>C (p.Val664Ala)
c.1253T>C (p.Val418Ala)
c.2774T>C (p.Val925Ala)
c.3038T>C (p.Val1013Ala)
c.2129-627T>C (n.2129-627T>C)
n.3111T>C
n.3319T>C
c.2528T>C (p.Val843Ala)
c.1553T>C (p.Val518Ala)
c.2267T>C (p.Val756Ala)
c.3245T>C (p.Val1082Ala)
n.3063T>C
n.3271T>C
 dbSNP gnomAD v2 gnomAD v4
1g.197434973T>GCA344045676CRB1c.3110T>G (p.Val1037Gly)
c.1991T>G (p.Val664Gly)
c.1253T>G (p.Val418Gly)
c.2774T>G (p.Val925Gly)
c.3038T>G (p.Val1013Gly)
c.2129-627T>G (n.2129-627T>G)
n.3111T>G
n.3319T>G
c.2528T>G (p.Val843Gly)
c.1553T>G (p.Val518Gly)
c.2267T>G (p.Val756Gly)
c.3245T>G (p.Val1082Gly)
n.3063T>G
n.3271T>G
1g.197434973T=CA1218068740CRB1c.3110T= (p.Val1037=)
c.1991T= (p.Val664=)
c.1253T= (p.Val418=)
c.2774T= (p.Val925=)
c.3038T= (p.Val1013=)
c.2129-627T= (n.2129-627T=)
n.3111T=
n.3319T=
c.2528T= (p.Val843=)
c.1553T= (p.Val518=)
c.2267T= (p.Val756=)
c.3245T= (p.Val1082=)
n.3063T=
n.3271T=
1g.197434973_197435006dupCA1139656480CRB1c.3110_3143dup (p.Ser1049AspfsTer40)
c.1991_2024dup (p.Ser676AspfsTer40)
c.1253_1286dup (p.Ser430AspfsTer40)
c.2774_2807dup (p.Ser937AspfsTer40)
c.3038_3071dup (p.Ser1025AspfsTer40)
c.2129-627_2129-594dup (n.2129-627_2129-594dup)
n.3111_3144dup
n.3319_3352dup
c.2528_2561dup (p.Ser855AspfsTer40)
c.1553_1586dup (p.Ser530AspfsTer40)
c.2267_2300dup (p.Ser768AspfsTer40)
c.3245_3278dup (p.Ser1094AspfsTer40)
n.3063_3096dup
n.3271_3304dup
 ClinVar dbSNP gnomAD v4
1g.197434974G>ACA422808813CRB1c.3111G>A (p.Val1037=)
c.1992G>A (p.Val664=)
c.1254G>A (p.Val418=)
c.2775G>A (p.Val925=)
c.3039G>A (p.Val1013=)
c.2129-626G>A (n.2129-626G>A)
n.3112G>A
n.3320G>A
c.2529G>A (p.Val843=)
c.1554G>A (p.Val518=)
c.2268G>A (p.Val756=)
c.3246G>A (p.Val1082=)
n.3064G>A
n.3272G>A
1g.197434974G>CCA422808814CRB1c.3111G>C (p.Val1037=)
c.1992G>C (p.Val664=)
c.1254G>C (p.Val418=)
c.2775G>C (p.Val925=)
c.3039G>C (p.Val1013=)
c.2129-626G>C (n.2129-626G>C)
n.3112G>C
n.3320G>C
c.2529G>C (p.Val843=)
c.1554G>C (p.Val518=)
c.2268G>C (p.Val756=)
c.3246G>C (p.Val1082=)
n.3064G>C
n.3272G>C
 ClinVar dbSNP
1g.197434974G=CA1218068741CRB1c.3111G= (p.Val1037=)
c.1992G= (p.Val664=)
c.1254G= (p.Val418=)
c.2775G= (p.Val925=)
c.3039G= (p.Val1013=)
c.2129-626G= (n.2129-626G=)
n.3112G=
n.3320G=
c.2529G= (p.Val843=)
c.1554G= (p.Val518=)
c.2268G= (p.Val756=)
c.3246G= (p.Val1082=)
n.3064G=
n.3272G=
1g.197434974G>TCA422808815CRB1c.3111G>T (p.Val1037=)
c.1992G>T (p.Val664=)
c.1254G>T (p.Val418=)
c.2775G>T (p.Val925=)
c.3039G>T (p.Val1013=)
c.2129-626G>T (n.2129-626G>T)
n.3112G>T
n.3320G>T
c.2529G>T (p.Val843=)
c.1554G>T (p.Val518=)
c.2268G>T (p.Val756=)
c.3246G>T (p.Val1082=)
n.3064G>T
n.3272G>T
1g.197434975A>CCA344045678CRB1c.3112A>C (p.Thr1038Pro)
c.1993A>C (p.Thr665Pro)
c.1255A>C (p.Thr419Pro)
c.2776A>C (p.Thr926Pro)
c.3040A>C (p.Thr1014Pro)
c.2129-625A>C (n.2129-625A>C)
n.3113A>C
n.3321A>C
c.2530A>C (p.Thr844Pro)
c.1555A>C (p.Thr519Pro)
c.2269A>C (p.Thr757Pro)
c.3247A>C (p.Thr1083Pro)
n.3065A>C
n.3273A>C
1g.197434975A>GCA344045680CRB1c.3112A>G (p.Thr1038Ala)
c.1993A>G (p.Thr665Ala)
c.1255A>G (p.Thr419Ala)
c.2776A>G (p.Thr926Ala)
c.3040A>G (p.Thr1014Ala)
c.2129-625A>G (n.2129-625A>G)
n.3113A>G
n.3321A>G
c.2530A>G (p.Thr844Ala)
c.1555A>G (p.Thr519Ala)
c.2269A>G (p.Thr757Ala)
c.3247A>G (p.Thr1083Ala)
n.3065A>G
n.3273A>G
1g.197434975A>TCA344045683CRB1c.3112A>T (p.Thr1038Ser)
c.1993A>T (p.Thr665Ser)
c.1255A>T (p.Thr419Ser)
c.2776A>T (p.Thr926Ser)
c.3040A>T (p.Thr1014Ser)
c.2129-625A>T (n.2129-625A>T)
n.3113A>T
n.3321A>T
c.2530A>T (p.Thr844Ser)
c.1555A>T (p.Thr519Ser)
c.2269A>T (p.Thr757Ser)
c.3247A>T (p.Thr1083Ser)
n.3065A>T
n.3273A>T
1g.197434975_197434976dupCA2580061934CRB1c.3112_3113dup (p.Leu1039ProfsTer4)
c.1993_1994dup (p.Leu666ProfsTer4)
c.1255_1256dup (p.Leu420ProfsTer4)
c.2776_2777dup (p.Leu927ProfsTer4)
c.3040_3041dup (p.Leu1015ProfsTer4)
c.2129-625_2129-624dup (n.2129-625_2129-624dup)
n.3113_3114dup
n.3321_3322dup
c.2530_2531dup (p.Leu845ProfsTer4)
c.1555_1556dup (p.Leu520ProfsTer4)
c.2269_2270dup (p.Leu758ProfsTer4)
c.3247_3248dup (p.Leu1084ProfsTer4)
n.3065_3066dup
n.3273_3274dup
 ClinVar gnomAD v4
1g.197434976C>ACA344045689CRB1c.3113C>A (p.Thr1038Asn)
c.1994C>A (p.Thr665Asn)
c.1256C>A (p.Thr419Asn)
c.2777C>A (p.Thr926Asn)
c.3041C>A (p.Thr1014Asn)
c.2129-624C>A (n.2129-624C>A)
n.3114C>A
n.3322C>A
c.2531C>A (p.Thr844Asn)
c.1556C>A (p.Thr519Asn)
c.2270C>A (p.Thr757Asn)
c.3248C>A (p.Thr1083Asn)
n.3066C>A
n.3274C>A
1g.197434976C>GCA344045691CRB1c.3113C>G (p.Thr1038Ser)
c.1994C>G (p.Thr665Ser)
c.1256C>G (p.Thr419Ser)
c.2777C>G (p.Thr926Ser)
c.3041C>G (p.Thr1014Ser)
c.2129-624C>G (n.2129-624C>G)
n.3114C>G
n.3322C>G
c.2531C>G (p.Thr844Ser)
c.1556C>G (p.Thr519Ser)
c.2270C>G (p.Thr757Ser)
c.3248C>G (p.Thr1083Ser)
n.3066C>G
n.3274C>G
 gnomAD v4
1g.197434976C>TCA344045693CRB1c.3113C>T (p.Thr1038Ile)
c.1994C>T (p.Thr665Ile)
c.1256C>T (p.Thr419Ile)
c.2777C>T (p.Thr926Ile)
c.3041C>T (p.Thr1014Ile)
c.2129-624C>T (n.2129-624C>T)
n.3114C>T
n.3322C>T
c.2531C>T (p.Thr844Ile)
c.1556C>T (p.Thr519Ile)
c.2270C>T (p.Thr757Ile)
c.3248C>T (p.Thr1083Ile)
n.3066C>T
n.3274C>T
 COSMIC COSMIC
1g.197434977C>ACA422808820CRB1c.3114C>A (p.Thr1038=)
c.1995C>A (p.Thr665=)
c.1257C>A (p.Thr419=)
c.2778C>A (p.Thr926=)
c.3042C>A (p.Thr1014=)
c.2129-623C>A (n.2129-623C>A)
n.3115C>A
n.3323C>A
c.2532C>A (p.Thr844=)
c.1557C>A (p.Thr519=)
c.2271C>A (p.Thr757=)
c.3249C>A (p.Thr1083=)
n.3067C>A
n.3275C>A
 gnomAD v4
1g.197434977C=CA1218068742CRB1c.3114C= (p.Thr1038=)
c.1995C= (p.Thr665=)
c.1257C= (p.Thr419=)
c.2778C= (p.Thr926=)
c.3042C= (p.Thr1014=)
c.2129-623C= (n.2129-623C=)
n.3115C=
n.3323C=
c.2532C= (p.Thr844=)
c.1557C= (p.Thr519=)
c.2271C= (p.Thr757=)
c.3249C= (p.Thr1083=)
n.3067C=
n.3275C=
1g.197434977C>GCA422808821CRB1c.3114C>G (p.Thr1038=)
c.1995C>G (p.Thr665=)
c.1257C>G (p.Thr419=)
c.2778C>G (p.Thr926=)
c.3042C>G (p.Thr1014=)
c.2129-623C>G (n.2129-623C>G)
n.3115C>G
n.3323C>G
c.2532C>G (p.Thr844=)
c.1557C>G (p.Thr519=)
c.2271C>G (p.Thr757=)
c.3249C>G (p.Thr1083=)
n.3067C>G
n.3275C>G
1g.197434977C>TCA422808822CRB1c.3114C>T (p.Thr1038=)
c.1995C>T (p.Thr665=)
c.1257C>T (p.Thr419=)
c.2778C>T (p.Thr926=)
c.3042C>T (p.Thr1014=)
c.2129-623C>T (n.2129-623C>T)
n.3115C>T
n.3323C>T
c.2532C>T (p.Thr844=)
c.1557C>T (p.Thr519=)
c.2271C>T (p.Thr757=)
c.3249C>T (p.Thr1083=)
n.3067C>T
n.3275C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197434978C>ACA344045708CRB1c.3115C>A (p.Leu1039Ile)
c.1996C>A (p.Leu666Ile)
c.1258C>A (p.Leu420Ile)
c.2779C>A (p.Leu927Ile)
c.3043C>A (p.Leu1015Ile)
c.2129-622C>A (n.2129-622C>A)
n.3116C>A
n.3324C>A
c.2533C>A (p.Leu845Ile)
c.1558C>A (p.Leu520Ile)
c.2272C>A (p.Leu758Ile)
c.3250C>A (p.Leu1084Ile)
n.3068C>A
n.3276C>A
1g.197434978C=CA1218068743CRB1c.3115C= (p.Leu1039=)
c.1996C= (p.Leu666=)
c.1258C= (p.Leu420=)
c.2779C= (p.Leu927=)
c.3043C= (p.Leu1015=)
c.2129-622C= (n.2129-622C=)
n.3116C=
n.3324C=
c.2533C= (p.Leu845=)
c.1558C= (p.Leu520=)
c.2272C= (p.Leu758=)
c.3250C= (p.Leu1084=)
n.3068C=
n.3276C=
1g.197434978C>GCA1312279CRB1c.3115C>G (p.Leu1039Val)
c.1996C>G (p.Leu666Val)
c.1258C>G (p.Leu420Val)
c.2779C>G (p.Leu927Val)
c.3043C>G (p.Leu1015Val)
c.2129-622C>G (n.2129-622C>G)
n.3116C>G
n.3324C>G
c.2533C>G (p.Leu845Val)
c.1558C>G (p.Leu520Val)
c.2272C>G (p.Leu758Val)
c.3250C>G (p.Leu1084Val)
n.3068C>G
n.3276C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434978C>TCA344045704CRB1c.3115C>T (p.Leu1039Phe)
c.1996C>T (p.Leu666Phe)
c.1258C>T (p.Leu420Phe)
c.2779C>T (p.Leu927Phe)
c.3043C>T (p.Leu1015Phe)
c.2129-622C>T (n.2129-622C>T)
n.3116C>T
n.3324C>T
c.2533C>T (p.Leu845Phe)
c.1558C>T (p.Leu520Phe)
c.2272C>T (p.Leu758Phe)
c.3250C>T (p.Leu1084Phe)
n.3068C>T
n.3276C>T
1g.197434979T>ACA344045712CRB1c.3116T>A (p.Leu1039His)
c.1997T>A (p.Leu666His)
c.1259T>A (p.Leu420His)
c.2780T>A (p.Leu927His)
c.3044T>A (p.Leu1015His)
c.2129-621T>A (n.2129-621T>A)
n.3117T>A
n.3325T>A
c.2534T>A (p.Leu845His)
c.1559T>A (p.Leu520His)
c.2273T>A (p.Leu758His)
c.3251T>A (p.Leu1084His)
n.3069T>A
n.3277T>A
1g.197434979T>CCA344045717CRB1c.3116T>C (p.Leu1039Pro)
c.1997T>C (p.Leu666Pro)
c.1259T>C (p.Leu420Pro)
c.2780T>C (p.Leu927Pro)
c.3044T>C (p.Leu1015Pro)
c.2129-621T>C (n.2129-621T>C)
n.3117T>C
n.3325T>C
c.2534T>C (p.Leu845Pro)
c.1559T>C (p.Leu520Pro)
c.2273T>C (p.Leu758Pro)
c.3251T>C (p.Leu1084Pro)
n.3069T>C
n.3277T>C
1g.197434979T>GCA344045721CRB1c.3116T>G (p.Leu1039Arg)
c.1997T>G (p.Leu666Arg)
c.1259T>G (p.Leu420Arg)
c.2780T>G (p.Leu927Arg)
c.3044T>G (p.Leu1015Arg)
c.2129-621T>G (n.2129-621T>G)
n.3117T>G
n.3325T>G
c.2534T>G (p.Leu845Arg)
c.1559T>G (p.Leu520Arg)
c.2273T>G (p.Leu758Arg)
c.3251T>G (p.Leu1084Arg)
n.3069T>G
n.3277T>G
1g.197434981delCA422808827CRB1c.3118del (p.Ser1040ProfsTer2)
c.1999del (p.Ser667ProfsTer2)
c.1261del (p.Ser421ProfsTer2)
c.2782del (p.Ser928ProfsTer2)
c.3046del (p.Ser1016ProfsTer2)
c.2129-619del (n.2129-619del)
n.3119del
n.3327del
c.2536del (p.Ser846ProfsTer2)
c.1561del (p.Ser521ProfsTer2)
c.2275del (p.Ser759ProfsTer2)
c.3253del (p.Ser1085ProfsTer2)
n.3071del
n.3279del
 COSMIC
1g.197434980T>ACA422808829CRB1c.3117T>A (p.Leu1039=)
c.1998T>A (p.Leu666=)
c.1260T>A (p.Leu420=)
c.2781T>A (p.Leu927=)
c.3045T>A (p.Leu1015=)
c.2129-620T>A (n.2129-620T>A)
n.3118T>A
n.3326T>A
c.2535T>A (p.Leu845=)
c.1560T>A (p.Leu520=)
c.2274T>A (p.Leu758=)
c.3252T>A (p.Leu1084=)
n.3070T>A
n.3278T>A
 COSMIC COSMIC
1g.197434980T>CCA422808831CRB1c.3117T>C (p.Leu1039=)
c.1998T>C (p.Leu666=)
c.1260T>C (p.Leu420=)
c.2781T>C (p.Leu927=)
c.3045T>C (p.Leu1015=)
c.2129-620T>C (n.2129-620T>C)
n.3118T>C
n.3326T>C
c.2535T>C (p.Leu845=)
c.1560T>C (p.Leu520=)
c.2274T>C (p.Leu758=)
c.3252T>C (p.Leu1084=)
n.3070T>C
n.3278T>C
1g.197434980T>GCA422808832CRB1c.3117T>G (p.Leu1039=)
c.1998T>G (p.Leu666=)
c.1260T>G (p.Leu420=)
c.2781T>G (p.Leu927=)
c.3045T>G (p.Leu1015=)
c.2129-620T>G (n.2129-620T>G)
n.3118T>G
n.3326T>G
c.2535T>G (p.Leu845=)
c.1560T>G (p.Leu520=)
c.2274T>G (p.Leu758=)
c.3252T>G (p.Leu1084=)
n.3070T>G
n.3278T>G
1g.197434981T>ACA344045727CRB1c.3118T>A (p.Ser1040Thr)
c.1999T>A (p.Ser667Thr)
c.1261T>A (p.Ser421Thr)
c.2782T>A (p.Ser928Thr)
c.3046T>A (p.Ser1016Thr)
c.2129-619T>A (n.2129-619T>A)
n.3119T>A
n.3327T>A
c.2536T>A (p.Ser846Thr)
c.1561T>A (p.Ser521Thr)
c.2275T>A (p.Ser759Thr)
c.3253T>A (p.Ser1085Thr)
n.3071T>A
n.3279T>A
 dbSNP gnomAD v2 gnomAD v4
1g.197434981T>CCA344045732CRB1c.3118T>C (p.Ser1040Pro)
c.1999T>C (p.Ser667Pro)
c.1261T>C (p.Ser421Pro)
c.2782T>C (p.Ser928Pro)
c.3046T>C (p.Ser1016Pro)
c.2129-619T>C (n.2129-619T>C)
n.3119T>C
n.3327T>C
c.2536T>C (p.Ser846Pro)
c.1561T>C (p.Ser521Pro)
c.2275T>C (p.Ser759Pro)
c.3253T>C (p.Ser1085Pro)
n.3071T>C
n.3279T>C
1g.197434981T>GCA344045735CRB1c.3118T>G (p.Ser1040Ala)
c.1999T>G (p.Ser667Ala)
c.1261T>G (p.Ser421Ala)
c.2782T>G (p.Ser928Ala)
c.3046T>G (p.Ser1016Ala)
c.2129-619T>G (n.2129-619T>G)
n.3119T>G
n.3327T>G
c.2536T>G (p.Ser846Ala)
c.1561T>G (p.Ser521Ala)
c.2275T>G (p.Ser759Ala)
c.3253T>G (p.Ser1085Ala)
n.3071T>G
n.3279T>G
1g.197434981T=CA1218068744CRB1c.3118T= (p.Ser1040=)
c.1999T= (p.Ser667=)
c.1261T= (p.Ser421=)
c.2782T= (p.Ser928=)
c.3046T= (p.Ser1016=)
c.2129-619T= (n.2129-619T=)
n.3119T=
n.3327T=
c.2536T= (p.Ser846=)
c.1561T= (p.Ser521=)
c.2275T= (p.Ser759=)
c.3253T= (p.Ser1085=)
n.3071T=
n.3279T=
1g.197434982C>ACA344045743CRB1c.3119C>A (p.Ser1040Tyr)
c.2000C>A (p.Ser667Tyr)
c.1262C>A (p.Ser421Tyr)
c.2783C>A (p.Ser928Tyr)
c.3047C>A (p.Ser1016Tyr)
c.2129-618C>A (n.2129-618C>A)
n.3120C>A
n.3328C>A
c.2537C>A (p.Ser846Tyr)
c.1562C>A (p.Ser521Tyr)
c.2276C>A (p.Ser759Tyr)
c.3254C>A (p.Ser1085Tyr)
n.3072C>A
n.3280C>A
1g.197434982C=CA1218068745CRB1c.3119C= (p.Ser1040=)
c.2000C= (p.Ser667=)
c.1262C= (p.Ser421=)
c.2783C= (p.Ser928=)
c.3047C= (p.Ser1016=)
c.2129-618C= (n.2129-618C=)
n.3120C=
n.3328C=
c.2537C= (p.Ser846=)
c.1562C= (p.Ser521=)
c.2276C= (p.Ser759=)
c.3254C= (p.Ser1085=)
n.3072C=
n.3280C=
1g.197434982C>GCA344045747CRB1c.3119C>G (p.Ser1040Cys)
c.2000C>G (p.Ser667Cys)
c.1262C>G (p.Ser421Cys)
c.2783C>G (p.Ser928Cys)
c.3047C>G (p.Ser1016Cys)
c.2129-618C>G (n.2129-618C>G)
n.3120C>G
n.3328C>G
c.2537C>G (p.Ser846Cys)
c.1562C>G (p.Ser521Cys)
c.2276C>G (p.Ser759Cys)
c.3254C>G (p.Ser1085Cys)
n.3072C>G
n.3280C>G
1g.197434982C>TCA344045751CRB1c.3119C>T (p.Ser1040Phe)
c.2000C>T (p.Ser667Phe)
c.1262C>T (p.Ser421Phe)
c.2783C>T (p.Ser928Phe)
c.3047C>T (p.Ser1016Phe)
c.2129-618C>T (n.2129-618C>T)
n.3120C>T
n.3328C>T
c.2537C>T (p.Ser846Phe)
c.1562C>T (p.Ser521Phe)
c.2276C>T (p.Ser759Phe)
c.3254C>T (p.Ser1085Phe)
n.3072C>T
n.3280C>T
 dbSNP gnomAD v4 COSMIC
1g.197434983C>ACA422808835CRB1c.3120C>A (p.Ser1040=)
c.2001C>A (p.Ser667=)
c.1263C>A (p.Ser421=)
c.2784C>A (p.Ser928=)
c.3048C>A (p.Ser1016=)
c.2129-617C>A (n.2129-617C>A)
n.3121C>A
n.3329C>A
c.2538C>A (p.Ser846=)
c.1563C>A (p.Ser521=)
c.2277C>A (p.Ser759=)
c.3255C>A (p.Ser1085=)
n.3073C>A
n.3281C>A
1g.197434983C=CA1218068746CRB1c.3120C= (p.Ser1040=)
c.2001C= (p.Ser667=)
c.1263C= (p.Ser421=)
c.2784C= (p.Ser928=)
c.3048C= (p.Ser1016=)
c.2129-617C= (n.2129-617C=)
n.3121C=
n.3329C=
c.2538C= (p.Ser846=)
c.1563C= (p.Ser521=)
c.2277C= (p.Ser759=)
c.3255C= (p.Ser1085=)
n.3073C=
n.3281C=
1g.197434983C>GCA422808836CRB1c.3120C>G (p.Ser1040=)
c.2001C>G (p.Ser667=)
c.1263C>G (p.Ser421=)
c.2784C>G (p.Ser928=)
c.3048C>G (p.Ser1016=)
c.2129-617C>G (n.2129-617C>G)
n.3121C>G
n.3329C>G
c.2538C>G (p.Ser846=)
c.1563C>G (p.Ser521=)
c.2277C>G (p.Ser759=)
c.3255C>G (p.Ser1085=)
n.3073C>G
n.3281C>G
1g.197434983C>TCA422808837CRB1c.3120C>T (p.Ser1040=)
c.2001C>T (p.Ser667=)
c.1263C>T (p.Ser421=)
c.2784C>T (p.Ser928=)
c.3048C>T (p.Ser1016=)
c.2129-617C>T (n.2129-617C>T)
n.3121C>T
n.3329C>T
c.2538C>T (p.Ser846=)
c.1563C>T (p.Ser521=)
c.2277C>T (p.Ser759=)
c.3255C>T (p.Ser1085=)
n.3073C>T
n.3281C>T
 ClinVar dbSNP
1g.197434984A=CA1218068747CRB1c.3121A= (p.Met1041=)
c.2002A= (p.Met668=)
c.1264A= (p.Met422=)
c.2785A= (p.Met929=)
c.3049A= (p.Met1017=)
c.2129-616A= (n.2129-616A=)
n.3122A=
n.3330A=
c.2539A= (p.Met847=)
c.1564A= (p.Met522=)
c.2278A= (p.Met760=)
c.3256A= (p.Met1086=)
n.3074A=
n.3282A=
1g.197434984A>CCA344045758CRB1c.3121A>C (p.Met1041Leu)
c.2002A>C (p.Met668Leu)
c.1264A>C (p.Met422Leu)
c.2785A>C (p.Met929Leu)
c.3049A>C (p.Met1017Leu)
c.2129-616A>C (n.2129-616A>C)
n.3122A>C
n.3330A>C
c.2539A>C (p.Met847Leu)
c.1564A>C (p.Met522Leu)
c.2278A>C (p.Met760Leu)
c.3256A>C (p.Met1086Leu)
n.3074A>C
n.3282A>C
1g.197434984A>GCA1312280CRB1c.3121A>G (p.Met1041Val)
c.2002A>G (p.Met668Val)
c.1264A>G (p.Met422Val)
c.2785A>G (p.Met929Val)
c.3049A>G (p.Met1017Val)
c.2129-616A>G (n.2129-616A>G)
n.3122A>G
n.3330A>G
c.2539A>G (p.Met847Val)
c.1564A>G (p.Met522Val)
c.2278A>G (p.Met760Val)
c.3256A>G (p.Met1086Val)
n.3074A>G
n.3282A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434984A>TCA344045766CRB1c.3121A>T (p.Met1041Leu)
c.2002A>T (p.Met668Leu)
c.1264A>T (p.Met422Leu)
c.2785A>T (p.Met929Leu)
c.3049A>T (p.Met1017Leu)
c.2129-616A>T (n.2129-616A>T)
n.3122A>T
n.3330A>T
c.2539A>T (p.Met847Leu)
c.1564A>T (p.Met522Leu)
c.2278A>T (p.Met760Leu)
c.3256A>T (p.Met1086Leu)
n.3074A>T
n.3282A>T
1g.197434985T>ACA344045781CRB1c.3122T>A (p.Met1041Lys)
c.2003T>A (p.Met668Lys)
c.1265T>A (p.Met422Lys)
c.2786T>A (p.Met929Lys)
c.3050T>A (p.Met1017Lys)
c.2129-615T>A (n.2129-615T>A)
n.3123T>A
n.3331T>A
c.2540T>A (p.Met847Lys)
c.1565T>A (p.Met522Lys)
c.2279T>A (p.Met760Lys)
c.3257T>A (p.Met1086Lys)
n.3075T>A
n.3283T>A
1g.197434985T>CCA228031CRB1c.3122T>C (p.Met1041Thr)
c.2003T>C (p.Met668Thr)
c.1265T>C (p.Met422Thr)
c.2786T>C (p.Met929Thr)
c.3050T>C (p.Met1017Thr)
c.2129-615T>C (n.2129-615T>C)
n.3123T>C
n.3331T>C
c.2540T>C (p.Met847Thr)
c.1565T>C (p.Met522Thr)
c.2279T>C (p.Met760Thr)
c.3257T>C (p.Met1086Thr)
n.3075T>C
n.3283T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197434985T>GCA344045775CRB1c.3122T>G (p.Met1041Arg)
c.2003T>G (p.Met668Arg)
c.1265T>G (p.Met422Arg)
c.2786T>G (p.Met929Arg)
c.3050T>G (p.Met1017Arg)
c.2129-615T>G (n.2129-615T>G)
n.3123T>G
n.3331T>G
c.2540T>G (p.Met847Arg)
c.1565T>G (p.Met522Arg)
c.2279T>G (p.Met760Arg)
c.3257T>G (p.Met1086Arg)
n.3075T>G
n.3283T>G
1g.197434985T=CA1140762960CRB1c.3122T= (p.Met1041=)
c.2003T= (p.Met668=)
c.1265T= (p.Met422=)
c.2786T= (p.Met929=)
c.3050T= (p.Met1017=)
c.2129-615T= (n.2129-615T=)
n.3123T=
n.3331T=
c.2540T= (p.Met847=)
c.1565T= (p.Met522=)
c.2279T= (p.Met760=)
c.3257T= (p.Met1086=)
n.3075T=
n.3283T=
1g.197434986G>ACA344045791CRB1c.3123G>A (p.Met1041Ile)
c.2004G>A (p.Met668Ile)
c.1266G>A (p.Met422Ile)
c.2787G>A (p.Met929Ile)
c.3051G>A (p.Met1017Ile)
c.2129-614G>A (n.2129-614G>A)
n.3124G>A
n.3332G>A
c.2541G>A (p.Met847Ile)
c.1566G>A (p.Met522Ile)
c.2280G>A (p.Met760Ile)
c.3258G>A (p.Met1086Ile)
n.3076G>A
n.3284G>A
1g.197434986G>CCA344045784CRB1c.3123G>C (p.Met1041Ile)
c.2004G>C (p.Met668Ile)
c.1266G>C (p.Met422Ile)
c.2787G>C (p.Met929Ile)
c.3051G>C (p.Met1017Ile)
c.2129-614G>C (n.2129-614G>C)
n.3124G>C
n.3332G>C
c.2541G>C (p.Met847Ile)
c.1566G>C (p.Met522Ile)
c.2280G>C (p.Met760Ile)
c.3258G>C (p.Met1086Ile)
n.3076G>C
n.3284G>C
1g.197434986G=CA1218068748CRB1c.3123G= (p.Met1041=)
c.2004G= (p.Met668=)
c.1266G= (p.Met422=)
c.2787G= (p.Met929=)
c.3051G= (p.Met1017=)
c.2129-614G= (n.2129-614G=)
n.3124G=
n.3332G=
c.2541G= (p.Met847=)
c.1566G= (p.Met522=)
c.2280G= (p.Met760=)
c.3258G= (p.Met1086=)
n.3076G=
n.3284G=
1g.197434986G>TCA344045788CRB1c.3123G>T (p.Met1041Ile)
c.2004G>T (p.Met668Ile)
c.1266G>T (p.Met422Ile)
c.2787G>T (p.Met929Ile)
c.3051G>T (p.Met1017Ile)
c.2129-614G>T (n.2129-614G>T)
n.3124G>T
n.3332G>T
c.2541G>T (p.Met847Ile)
c.1566G>T (p.Met522Ile)
c.2280G>T (p.Met760Ile)
c.3258G>T (p.Met1086Ile)
n.3076G>T
n.3284G>T
 dbSNP gnomAD v3 gnomAD v4
1g.197434987A=CA1218068749CRB1c.3124A= (p.Thr1042=)
c.2005A= (p.Thr669=)
c.1267A= (p.Thr423=)
c.2788A= (p.Thr930=)
c.3052A= (p.Thr1018=)
c.2129-613A= (n.2129-613A=)
n.3125A=
n.3333A=
c.2542A= (p.Thr848=)
c.1567A= (p.Thr523=)
c.2281A= (p.Thr761=)
c.3259A= (p.Thr1087=)
n.3077A=
n.3285A=
1g.197434987A>CCA344045795CRB1c.3124A>C (p.Thr1042Pro)
c.2005A>C (p.Thr669Pro)
c.1267A>C (p.Thr423Pro)
c.2788A>C (p.Thr930Pro)
c.3052A>C (p.Thr1018Pro)
c.2129-613A>C (n.2129-613A>C)
n.3125A>C
n.3333A>C
c.2542A>C (p.Thr848Pro)
c.1567A>C (p.Thr523Pro)
c.2281A>C (p.Thr761Pro)
c.3259A>C (p.Thr1087Pro)
n.3077A>C
n.3285A>C
1g.197434987A>GCA344045798CRB1c.3124A>G (p.Thr1042Ala)
c.2005A>G (p.Thr669Ala)
c.1267A>G (p.Thr423Ala)
c.2788A>G (p.Thr930Ala)
c.3052A>G (p.Thr1018Ala)
c.2129-613A>G (n.2129-613A>G)
n.3125A>G
n.3333A>G
c.2542A>G (p.Thr848Ala)
c.1567A>G (p.Thr523Ala)
c.2281A>G (p.Thr761Ala)
c.3259A>G (p.Thr1087Ala)
n.3077A>G
n.3285A>G
 dbSNP gnomAD v3 gnomAD v4
1g.197434987A>TCA344045799CRB1c.3124A>T (p.Thr1042Ser)
c.2005A>T (p.Thr669Ser)
c.1267A>T (p.Thr423Ser)
c.2788A>T (p.Thr930Ser)
c.3052A>T (p.Thr1018Ser)
c.2129-613A>T (n.2129-613A>T)
n.3125A>T
n.3333A>T
c.2542A>T (p.Thr848Ser)
c.1567A>T (p.Thr523Ser)
c.2281A>T (p.Thr761Ser)
c.3259A>T (p.Thr1087Ser)
n.3077A>T
n.3285A>T
1g.197434988C>ACA344045800CRB1c.3125C>A (p.Thr1042Lys)
c.2006C>A (p.Thr669Lys)
c.1268C>A (p.Thr423Lys)
c.2789C>A (p.Thr930Lys)
c.3053C>A (p.Thr1018Lys)
c.2129-612C>A (n.2129-612C>A)
n.3126C>A
n.3334C>A
c.2543C>A (p.Thr848Lys)
c.1568C>A (p.Thr523Lys)
c.2282C>A (p.Thr761Lys)
c.3260C>A (p.Thr1087Lys)
n.3078C>A
n.3286C>A
1g.197434988C>GCA344045801CRB1c.3125C>G (p.Thr1042Arg)
c.2006C>G (p.Thr669Arg)
c.1268C>G (p.Thr423Arg)
c.2789C>G (p.Thr930Arg)
c.3053C>G (p.Thr1018Arg)
c.2129-612C>G (n.2129-612C>G)
n.3126C>G
n.3334C>G
c.2543C>G (p.Thr848Arg)
c.1568C>G (p.Thr523Arg)
c.2282C>G (p.Thr761Arg)
c.3260C>G (p.Thr1087Arg)
n.3078C>G
n.3286C>G
1g.197434988C>TCA344045803CRB1c.3125C>T (p.Thr1042Ile)
c.2006C>T (p.Thr669Ile)
c.1268C>T (p.Thr423Ile)
c.2789C>T (p.Thr930Ile)
c.3053C>T (p.Thr1018Ile)
c.2129-612C>T (n.2129-612C>T)
n.3126C>T
n.3334C>T
c.2543C>T (p.Thr848Ile)
c.1568C>T (p.Thr523Ile)
c.2282C>T (p.Thr761Ile)
c.3260C>T (p.Thr1087Ile)
n.3078C>T
n.3286C>T
 gnomAD v4
1g.197434989A>CCA422808850CRB1c.3126A>C (p.Thr1042=)
c.2007A>C (p.Thr669=)
c.1269A>C (p.Thr423=)
c.2790A>C (p.Thr930=)
c.3054A>C (p.Thr1018=)
c.2129-611A>C (n.2129-611A>C)
n.3127A>C
n.3335A>C
c.2544A>C (p.Thr848=)
c.1569A>C (p.Thr523=)
c.2283A>C (p.Thr761=)
c.3261A>C (p.Thr1087=)
n.3079A>C
n.3287A>C
1g.197434989A>GCA422808852CRB1c.3126A>G (p.Thr1042=)
c.2007A>G (p.Thr669=)
c.1269A>G (p.Thr423=)
c.2790A>G (p.Thr930=)
c.3054A>G (p.Thr1018=)
c.2129-611A>G (n.2129-611A>G)
n.3127A>G
n.3335A>G
c.2544A>G (p.Thr848=)
c.1569A>G (p.Thr523=)
c.2283A>G (p.Thr761=)
c.3261A>G (p.Thr1087=)
n.3079A>G
n.3287A>G
1g.197434989A>TCA422808853CRB1c.3126A>T (p.Thr1042=)
c.2007A>T (p.Thr669=)
c.1269A>T (p.Thr423=)
c.2790A>T (p.Thr930=)
c.3054A>T (p.Thr1018=)
c.2129-611A>T (n.2129-611A>T)
n.3127A>T
n.3335A>T
c.2544A>T (p.Thr848=)
c.1569A>T (p.Thr523=)
c.2283A>T (p.Thr761=)
c.3261A>T (p.Thr1087=)
n.3079A>T
n.3287A>T
1g.197434990G>ACA344045807CRB1c.3127G>A (p.Asp1043Asn)
c.2008G>A (p.Asp670Asn)
c.1270G>A (p.Asp424Asn)
c.2791G>A (p.Asp931Asn)
c.3055G>A (p.Asp1019Asn)
c.2129-610G>A (n.2129-610G>A)
n.3128G>A
n.3336G>A
c.2545G>A (p.Asp849Asn)
c.1570G>A (p.Asp524Asn)
c.2284G>A (p.Asp762Asn)
c.3262G>A (p.Asp1088Asn)
n.3080G>A
n.3288G>A
 COSMIC COSMIC
1g.197434990G>CCA344045812CRB1c.3127G>C (p.Asp1043His)
c.2008G>C (p.Asp670His)
c.1270G>C (p.Asp424His)
c.2791G>C (p.Asp931His)
c.3055G>C (p.Asp1019His)
c.2129-610G>C (n.2129-610G>C)
n.3128G>C
n.3336G>C
c.2545G>C (p.Asp849His)
c.1570G>C (p.Asp524His)
c.2284G>C (p.Asp762His)
c.3262G>C (p.Asp1088His)
n.3080G>C
n.3288G>C
1g.197434990G>TCA344045813CRB1c.3127G>T (p.Asp1043Tyr)
c.2008G>T (p.Asp670Tyr)
c.1270G>T (p.Asp424Tyr)
c.2791G>T (p.Asp931Tyr)
c.3055G>T (p.Asp1019Tyr)
c.2129-610G>T (n.2129-610G>T)
n.3128G>T
n.3336G>T
c.2545G>T (p.Asp849Tyr)
c.1570G>T (p.Asp524Tyr)
c.2284G>T (p.Asp762Tyr)
c.3262G>T (p.Asp1088Tyr)
n.3080G>T
n.3288G>T
1g.197434991A=CA1218068750CRB1c.3128A= (p.Asp1043=)
c.2009A= (p.Asp670=)
c.1271A= (p.Asp424=)
c.2792A= (p.Asp931=)
c.3056A= (p.Asp1019=)
c.2129-609A= (n.2129-609A=)
n.3129A=
n.3337A=
c.2546A= (p.Asp849=)
c.1571A= (p.Asp524=)
c.2285A= (p.Asp762=)
c.3263A= (p.Asp1088=)
n.3081A=
n.3289A=
1g.197434991A>CCA344045818CRB1c.3128A>C (p.Asp1043Ala)
c.2009A>C (p.Asp670Ala)
c.1271A>C (p.Asp424Ala)
c.2792A>C (p.Asp931Ala)
c.3056A>C (p.Asp1019Ala)
c.2129-609A>C (n.2129-609A>C)
n.3129A>C
n.3337A>C
c.2546A>C (p.Asp849Ala)
c.1571A>C (p.Asp524Ala)
c.2285A>C (p.Asp762Ala)
c.3263A>C (p.Asp1088Ala)
n.3081A>C
n.3289A>C
1g.197434991A>GCA344045823CRB1c.3128A>G (p.Asp1043Gly)
c.2009A>G (p.Asp670Gly)
c.1271A>G (p.Asp424Gly)
c.2792A>G (p.Asp931Gly)
c.3056A>G (p.Asp1019Gly)
c.2129-609A>G (n.2129-609A>G)
n.3129A>G
n.3337A>G
c.2546A>G (p.Asp849Gly)
c.1571A>G (p.Asp524Gly)
c.2285A>G (p.Asp762Gly)
c.3263A>G (p.Asp1088Gly)
n.3081A>G
n.3289A>G
 dbSNP gnomAD v2 gnomAD v4
1g.197434991A>TCA344045827CRB1c.3128A>T (p.Asp1043Val)
c.2009A>T (p.Asp670Val)
c.1271A>T (p.Asp424Val)
c.2792A>T (p.Asp931Val)
c.3056A>T (p.Asp1019Val)
c.2129-609A>T (n.2129-609A>T)
n.3129A>T
n.3337A>T
c.2546A>T (p.Asp849Val)
c.1571A>T (p.Asp524Val)
c.2285A>T (p.Asp762Val)
c.3263A>T (p.Asp1088Val)
n.3081A>T
n.3289A>T
1g.197434992C>ACA344045832CRB1c.3129C>A (p.Asp1043Glu)
c.2010C>A (p.Asp670Glu)
c.1272C>A (p.Asp424Glu)
c.2793C>A (p.Asp931Glu)
c.3057C>A (p.Asp1019Glu)
c.2129-608C>A (n.2129-608C>A)
n.3130C>A
n.3338C>A
c.2547C>A (p.Asp849Glu)
c.1572C>A (p.Asp524Glu)
c.2286C>A (p.Asp762Glu)
c.3264C>A (p.Asp1088Glu)
n.3082C>A
n.3290C>A
1g.197434992C>GCA344045838CRB1c.3129C>G (p.Asp1043Glu)
c.2010C>G (p.Asp670Glu)
c.1272C>G (p.Asp424Glu)
c.2793C>G (p.Asp931Glu)
c.3057C>G (p.Asp1019Glu)
c.2129-608C>G (n.2129-608C>G)
n.3130C>G
n.3338C>G
c.2547C>G (p.Asp849Glu)
c.1572C>G (p.Asp524Glu)
c.2286C>G (p.Asp762Glu)
c.3264C>G (p.Asp1088Glu)
n.3082C>G
n.3290C>G
1g.197434992C>TCA422808860CRB1c.3129C>T (p.Asp1043=)
c.2010C>T (p.Asp670=)
c.1272C>T (p.Asp424=)
c.2793C>T (p.Asp931=)
c.3057C>T (p.Asp1019=)
c.2129-608C>T (n.2129-608C>T)
n.3130C>T
n.3338C>T
c.2547C>T (p.Asp849=)
c.1572C>T (p.Asp524=)
c.2286C>T (p.Asp762=)
c.3264C>T (p.Asp1088=)
n.3082C>T
n.3290C>T
1g.197434993C>ACA1312281CRB1c.3130C>A (p.Pro1044Thr)
c.2011C>A (p.Pro671Thr)
c.1273C>A (p.Pro425Thr)
c.2794C>A (p.Pro932Thr)
c.3058C>A (p.Pro1020Thr)
c.2129-607C>A (n.2129-607C>A)
n.3131C>A
n.3339C>A
c.2548C>A (p.Pro850Thr)
c.1573C>A (p.Pro525Thr)
c.2287C>A (p.Pro763Thr)
c.3265C>A (p.Pro1089Thr)
n.3083C>A
n.3291C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434993C=CA1148306416CRB1c.3130C= (p.Pro1044=)
c.2011C= (p.Pro671=)
c.1273C= (p.Pro425=)
c.2794C= (p.Pro932=)
c.3058C= (p.Pro1020=)
c.2129-607C= (n.2129-607C=)
n.3131C=
n.3339C=
c.2548C= (p.Pro850=)
c.1573C= (p.Pro525=)
c.2287C= (p.Pro763=)
c.3265C= (p.Pro1089=)
n.3083C=
n.3291C=
1g.197434993C>GCA344045848CRB1c.3130C>G (p.Pro1044Ala)
c.2011C>G (p.Pro671Ala)
c.1273C>G (p.Pro425Ala)
c.2794C>G (p.Pro932Ala)
c.3058C>G (p.Pro1020Ala)
c.2129-607C>G (n.2129-607C>G)
n.3131C>G
n.3339C>G
c.2548C>G (p.Pro850Ala)
c.1573C>G (p.Pro525Ala)
c.2287C>G (p.Pro763Ala)
c.3265C>G (p.Pro1089Ala)
n.3083C>G
n.3291C>G
1g.197434993C>TCA344045852CRB1c.3130C>T (p.Pro1044Ser)
c.2011C>T (p.Pro671Ser)
c.1273C>T (p.Pro425Ser)
c.2794C>T (p.Pro932Ser)
c.3058C>T (p.Pro1020Ser)
c.2129-607C>T (n.2129-607C>T)
n.3131C>T
n.3339C>T
c.2548C>T (p.Pro850Ser)
c.1573C>T (p.Pro525Ser)
c.2287C>T (p.Pro763Ser)
c.3265C>T (p.Pro1089Ser)
n.3083C>T
n.3291C>T
1g.197434994C>ACA344045857CRB1c.3131C>A (p.Pro1044Gln)
c.2012C>A (p.Pro671Gln)
c.1274C>A (p.Pro425Gln)
c.2795C>A (p.Pro932Gln)
c.3059C>A (p.Pro1020Gln)
c.2129-606C>A (n.2129-606C>A)
n.3132C>A
n.3340C>A
c.2549C>A (p.Pro850Gln)
c.1574C>A (p.Pro525Gln)
c.2288C>A (p.Pro763Gln)
c.3266C>A (p.Pro1089Gln)
n.3084C>A
n.3292C>A
1g.197434994C>GCA344045861CRB1c.3131C>G (p.Pro1044Arg)
c.2012C>G (p.Pro671Arg)
c.1274C>G (p.Pro425Arg)
c.2795C>G (p.Pro932Arg)
c.3059C>G (p.Pro1020Arg)
c.2129-606C>G (n.2129-606C>G)
n.3132C>G
n.3340C>G
c.2549C>G (p.Pro850Arg)
c.1574C>G (p.Pro525Arg)
c.2288C>G (p.Pro763Arg)
c.3266C>G (p.Pro1089Arg)
n.3084C>G
n.3292C>G
1g.197434994C>TCA344045864CRB1c.3131C>T (p.Pro1044Leu)
c.2012C>T (p.Pro671Leu)
c.1274C>T (p.Pro425Leu)
c.2795C>T (p.Pro932Leu)
c.3059C>T (p.Pro1020Leu)
c.2129-606C>T (n.2129-606C>T)
n.3132C>T
n.3340C>T
c.2549C>T (p.Pro850Leu)
c.1574C>T (p.Pro525Leu)
c.2288C>T (p.Pro763Leu)
c.3266C>T (p.Pro1089Leu)
n.3084C>T
n.3292C>T
1g.197434995A=CA1218068751CRB1c.3132A= (p.Pro1044=)
c.2013A= (p.Pro671=)
c.1275A= (p.Pro425=)
c.2796A= (p.Pro932=)
c.3060A= (p.Pro1020=)
c.2129-605A= (n.2129-605A=)
n.3133A=
n.3341A=
c.2550A= (p.Pro850=)
c.1575A= (p.Pro525=)
c.2289A= (p.Pro763=)
c.3267A= (p.Pro1089=)
n.3085A=
n.3293A=
1g.197434995A>CCA422808868CRB1c.3132A>C (p.Pro1044=)
c.2013A>C (p.Pro671=)
c.1275A>C (p.Pro425=)
c.2796A>C (p.Pro932=)
c.3060A>C (p.Pro1020=)
c.2129-605A>C (n.2129-605A>C)
n.3133A>C
n.3341A>C
c.2550A>C (p.Pro850=)
c.1575A>C (p.Pro525=)
c.2289A>C (p.Pro763=)
c.3267A>C (p.Pro1089=)
n.3085A>C
n.3293A>C
 gnomAD v4
1g.197434995A>GCA1312282CRB1c.3132A>G (p.Pro1044=)
c.2013A>G (p.Pro671=)
c.1275A>G (p.Pro425=)
c.2796A>G (p.Pro932=)
c.3060A>G (p.Pro1020=)
c.2129-605A>G (n.2129-605A>G)
n.3133A>G
n.3341A>G
c.2550A>G (p.Pro850=)
c.1575A>G (p.Pro525=)
c.2289A>G (p.Pro763=)
c.3267A>G (p.Pro1089=)
n.3085A>G
n.3293A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434995A>TCA422808869CRB1c.3132A>T (p.Pro1044=)
c.2013A>T (p.Pro671=)
c.1275A>T (p.Pro425=)
c.2796A>T (p.Pro932=)
c.3060A>T (p.Pro1020=)
c.2129-605A>T (n.2129-605A>T)
n.3133A>T
n.3341A>T
c.2550A>T (p.Pro850=)
c.1575A>T (p.Pro525=)
c.2289A>T (p.Pro763=)
c.3267A>T (p.Pro1089=)
n.3085A>T
n.3293A>T
1g.197434995_197435008delCA2649670640CRB1c.3132_3145del (p.Leu1045GlnfsTer28)
c.2013_2026del (p.Leu672GlnfsTer28)
c.1275_1288del (p.Leu426GlnfsTer28)
c.2796_2809del (p.Leu933GlnfsTer28)
c.3060_3073del (p.Leu1021GlnfsTer28)
c.2129-605_2129-592del (n.2129-605_2129-592del)
n.3133_3146del
n.3341_3354del
c.2550_2563del (p.Leu851GlnfsTer28)
c.1575_1588del (p.Leu526GlnfsTer28)
c.2289_2302del (p.Leu764GlnfsTer28)
c.3267_3280del (p.Leu1090GlnfsTer28)
n.3085_3098del
n.3293_3306del
 gnomAD v4
1g.197434996C>ACA344045868CRB1c.3133C>A (p.Leu1045Met)
c.2014C>A (p.Leu672Met)
c.1276C>A (p.Leu426Met)
c.2797C>A (p.Leu933Met)
c.3061C>A (p.Leu1021Met)
c.2129-604C>A (n.2129-604C>A)
n.3134C>A
n.3342C>A
c.2551C>A (p.Leu851Met)
c.1576C>A (p.Leu526Met)
c.2290C>A (p.Leu764Met)
c.3268C>A (p.Leu1090Met)
n.3086C>A
n.3294C>A
1g.197434996C>GCA344045869CRB1c.3133C>G (p.Leu1045Val)
c.2014C>G (p.Leu672Val)
c.1276C>G (p.Leu426Val)
c.2797C>G (p.Leu933Val)
c.3061C>G (p.Leu1021Val)
c.2129-604C>G (n.2129-604C>G)
n.3134C>G
n.3342C>G
c.2551C>G (p.Leu851Val)
c.1576C>G (p.Leu526Val)
c.2290C>G (p.Leu764Val)
c.3268C>G (p.Leu1090Val)
n.3086C>G
n.3294C>G
1g.197434996C>TCA422808871CRB1c.3133C>T (p.Leu1045=)
c.2014C>T (p.Leu672=)
c.1276C>T (p.Leu426=)
c.2797C>T (p.Leu933=)
c.3061C>T (p.Leu1021=)
c.2129-604C>T (n.2129-604C>T)
n.3134C>T
n.3342C>T
c.2551C>T (p.Leu851=)
c.1576C>T (p.Leu526=)
c.2290C>T (p.Leu764=)
c.3268C>T (p.Leu1090=)
n.3086C>T
n.3294C>T
1g.197434997delCA2499214382CRB1c.3134del (p.Leu1045ArgfsTer18)
c.2015del (p.Leu672ArgfsTer18)
c.1277del (p.Leu426ArgfsTer18)
c.2798del (p.Leu933ArgfsTer18)
c.3062del (p.Leu1021ArgfsTer18)
c.2129-603del (n.2129-603del)
n.3135del
n.3343del
c.2552del (p.Leu851ArgfsTer18)
c.1577del (p.Leu526ArgfsTer18)
c.2291del (p.Leu764ArgfsTer18)
c.3269del (p.Leu1090ArgfsTer18)
n.3087del
n.3295del
 ClinVar dbSNP
1g.197434997T>ACA344045871CRB1c.3134T>A (p.Leu1045Gln)
c.2015T>A (p.Leu672Gln)
c.1277T>A (p.Leu426Gln)
c.2798T>A (p.Leu933Gln)
c.3062T>A (p.Leu1021Gln)
c.2129-603T>A (n.2129-603T>A)
n.3135T>A
n.3343T>A
c.2552T>A (p.Leu851Gln)
c.1577T>A (p.Leu526Gln)
c.2291T>A (p.Leu764Gln)
c.3269T>A (p.Leu1090Gln)
n.3087T>A
n.3295T>A
1g.197434997T>CCA344045874CRB1c.3134T>C (p.Leu1045Pro)
c.2015T>C (p.Leu672Pro)
c.1277T>C (p.Leu426Pro)
c.2798T>C (p.Leu933Pro)
c.3062T>C (p.Leu1021Pro)
c.2129-603T>C (n.2129-603T>C)
n.3135T>C
n.3343T>C
c.2552T>C (p.Leu851Pro)
c.1577T>C (p.Leu526Pro)
c.2291T>C (p.Leu764Pro)
c.3269T>C (p.Leu1090Pro)
n.3087T>C
n.3295T>C
1g.197434997T>GCA344045876CRB1c.3134T>G (p.Leu1045Arg)
c.2015T>G (p.Leu672Arg)
c.1277T>G (p.Leu426Arg)
c.2798T>G (p.Leu933Arg)
c.3062T>G (p.Leu1021Arg)
c.2129-603T>G (n.2129-603T>G)
n.3135T>G
n.3343T>G
c.2552T>G (p.Leu851Arg)
c.1577T>G (p.Leu526Arg)
c.2291T>G (p.Leu764Arg)
c.3269T>G (p.Leu1090Arg)
n.3087T>G
n.3295T>G
1g.197434998G>ACA422808873CRB1c.3135G>A (p.Leu1045=)
c.2016G>A (p.Leu672=)
c.1278G>A (p.Leu426=)
c.2799G>A (p.Leu933=)
c.3063G>A (p.Leu1021=)
c.2129-602G>A (n.2129-602G>A)
n.3136G>A
n.3344G>A
c.2553G>A (p.Leu851=)
c.1578G>A (p.Leu526=)
c.2292G>A (p.Leu764=)
c.3270G>A (p.Leu1090=)
n.3088G>A
n.3296G>A
1g.197434998G>CCA422808874CRB1c.3135G>C (p.Leu1045=)
c.2016G>C (p.Leu672=)
c.1278G>C (p.Leu426=)
c.2799G>C (p.Leu933=)
c.3063G>C (p.Leu1021=)
c.2129-602G>C (n.2129-602G>C)
n.3136G>C
n.3344G>C
c.2553G>C (p.Leu851=)
c.1578G>C (p.Leu526=)
c.2292G>C (p.Leu764=)
c.3270G>C (p.Leu1090=)
n.3088G>C
n.3296G>C
1g.197434998G>TCA422808875CRB1c.3135G>T (p.Leu1045=)
c.2016G>T (p.Leu672=)
c.1278G>T (p.Leu426=)
c.2799G>T (p.Leu933=)
c.3063G>T (p.Leu1021=)
c.2129-602G>T (n.2129-602G>T)
n.3136G>T
n.3344G>T
c.2553G>T (p.Leu851=)
c.1578G>T (p.Leu526=)
c.2292G>T (p.Leu764=)
c.3270G>T (p.Leu1090=)
n.3088G>T
n.3296G>T
1g.197434999T>ACA344045886CRB1c.3136T>A (p.Ser1046Thr)
c.2017T>A (p.Ser673Thr)
c.1279T>A (p.Ser427Thr)
c.2800T>A (p.Ser934Thr)
c.3064T>A (p.Ser1022Thr)
c.2129-601T>A (n.2129-601T>A)
n.3137T>A
n.3345T>A
c.2554T>A (p.Ser852Thr)
c.1579T>A (p.Ser527Thr)
c.2293T>A (p.Ser765Thr)
c.3271T>A (p.Ser1091Thr)
n.3089T>A
n.3297T>A
1g.197434999T>CCA344045894CRB1c.3136T>C (p.Ser1046Pro)
c.2017T>C (p.Ser673Pro)
c.1279T>C (p.Ser427Pro)
c.2800T>C (p.Ser934Pro)
c.3064T>C (p.Ser1022Pro)
c.2129-601T>C (n.2129-601T>C)
n.3137T>C
n.3345T>C
c.2554T>C (p.Ser852Pro)
c.1579T>C (p.Ser527Pro)
c.2293T>C (p.Ser765Pro)
c.3271T>C (p.Ser1091Pro)
n.3089T>C
n.3297T>C
1g.197434999T>GCA344045882CRB1c.3136T>G (p.Ser1046Ala)
c.2017T>G (p.Ser673Ala)
c.1279T>G (p.Ser427Ala)
c.2800T>G (p.Ser934Ala)
c.3064T>G (p.Ser1022Ala)
c.2129-601T>G (n.2129-601T>G)
n.3137T>G
n.3345T>G
c.2554T>G (p.Ser852Ala)
c.1579T>G (p.Ser527Ala)
c.2293T>G (p.Ser765Ala)
c.3271T>G (p.Ser1091Ala)
n.3089T>G
n.3297T>G
1g.197435000C>ACA344045899CRB1c.3137C>A (p.Ser1046Tyr)
c.2018C>A (p.Ser673Tyr)
c.1280C>A (p.Ser427Tyr)
c.2801C>A (p.Ser934Tyr)
c.3065C>A (p.Ser1022Tyr)
c.2129-600C>A (n.2129-600C>A)
n.3138C>A
n.3346C>A
c.2555C>A (p.Ser852Tyr)
c.1580C>A (p.Ser527Tyr)
c.2294C>A (p.Ser765Tyr)
c.3272C>A (p.Ser1091Tyr)
n.3090C>A
n.3298C>A
1g.197435000C=CA1218068752CRB1c.3137C= (p.Ser1046=)
c.2018C= (p.Ser673=)
c.1280C= (p.Ser427=)
c.2801C= (p.Ser934=)
c.3065C= (p.Ser1022=)
c.2129-600C= (n.2129-600C=)
n.3138C=
n.3346C=
c.2555C= (p.Ser852=)
c.1580C= (p.Ser527=)
c.2294C= (p.Ser765=)
c.3272C= (p.Ser1091=)
n.3090C=
n.3298C=
1g.197435000C>GCA344045912CRB1c.3137C>G (p.Ser1046Cys)
c.2018C>G (p.Ser673Cys)
c.1280C>G (p.Ser427Cys)
c.2801C>G (p.Ser934Cys)
c.3065C>G (p.Ser1022Cys)
c.2129-600C>G (n.2129-600C>G)
n.3138C>G
n.3346C>G
c.2555C>G (p.Ser852Cys)
c.1580C>G (p.Ser527Cys)
c.2294C>G (p.Ser765Cys)
c.3272C>G (p.Ser1091Cys)
n.3090C>G
n.3298C>G
1g.197435000C>TCA344045907CRB1c.3137C>T (p.Ser1046Phe)
c.2018C>T (p.Ser673Phe)
c.1280C>T (p.Ser427Phe)
c.2801C>T (p.Ser934Phe)
c.3065C>T (p.Ser1022Phe)
c.2129-600C>T (n.2129-600C>T)
n.3138C>T
n.3346C>T
c.2555C>T (p.Ser852Phe)
c.1580C>T (p.Ser527Phe)
c.2294C>T (p.Ser765Phe)
c.3272C>T (p.Ser1091Phe)
n.3090C>T
n.3298C>T
 ClinVar dbSNP
1g.197435001C>ACA422808878CRB1c.3138C>A (p.Ser1046=)
c.2019C>A (p.Ser673=)
c.1281C>A (p.Ser427=)
c.2802C>A (p.Ser934=)
c.3066C>A (p.Ser1022=)
c.2129-599C>A (n.2129-599C>A)
n.3139C>A
n.3347C>A
c.2556C>A (p.Ser852=)
c.1581C>A (p.Ser527=)
c.2295C>A (p.Ser765=)
c.3273C>A (p.Ser1091=)
n.3091C>A
n.3299C>A
1g.197435001C>GCA422808879CRB1c.3138C>G (p.Ser1046=)
c.2019C>G (p.Ser673=)
c.1281C>G (p.Ser427=)
c.2802C>G (p.Ser934=)
c.3066C>G (p.Ser1022=)
c.2129-599C>G (n.2129-599C>G)
n.3139C>G
n.3347C>G
c.2556C>G (p.Ser852=)
c.1581C>G (p.Ser527=)
c.2295C>G (p.Ser765=)
c.3273C>G (p.Ser1091=)
n.3091C>G
n.3299C>G
1g.197435001C>TCA422808880CRB1c.3138C>T (p.Ser1046=)
c.2019C>T (p.Ser673=)
c.1281C>T (p.Ser427=)
c.2802C>T (p.Ser934=)
c.3066C>T (p.Ser1022=)
c.2129-599C>T (n.2129-599C>T)
n.3139C>T
n.3347C>T
c.2556C>T (p.Ser852=)
c.1581C>T (p.Ser527=)
c.2295C>T (p.Ser765=)
c.3273C>T (p.Ser1091=)
n.3091C>T
n.3299C>T
1g.197435005_197435012delCA2580061935CRB1c.3142_3149del (p.Thr1048ValfsTer27)
c.2023_2030del (p.Thr675ValfsTer27)
c.1285_1292del (p.Thr429ValfsTer27)
c.2806_2813del (p.Thr936ValfsTer27)
c.3070_3077del (p.Thr1024ValfsTer27)
c.2129-595_2129-588del (n.2129-595_2129-588del)
n.3143_3150del
n.3351_3358del
c.2560_2567del (p.Thr854ValfsTer27)
c.1585_1592del (p.Thr529ValfsTer27)
c.2299_2306del (p.Thr767ValfsTer27)
c.3277_3284del (p.Thr1093ValfsTer27)
n.3095_3102del
n.3303_3310del
 ClinVar
1g.197435002C>ACA344045919CRB1c.3139C>A (p.Gln1047Lys)
c.2020C>A (p.Gln674Lys)
c.1282C>A (p.Gln428Lys)
c.2803C>A (p.Gln935Lys)
c.3067C>A (p.Gln1023Lys)
c.2129-598C>A (n.2129-598C>A)
n.3140C>A
n.3348C>A
c.2557C>A (p.Gln853Lys)
c.1582C>A (p.Gln528Lys)
c.2296C>A (p.Gln766Lys)
c.3274C>A (p.Gln1092Lys)
n.3092C>A
n.3300C>A
 gnomAD v4
1g.197435002C=CA1218068753CRB1c.3139C= (p.Gln1047=)
c.2020C= (p.Gln674=)
c.1282C= (p.Gln428=)
c.2803C= (p.Gln935=)
c.3067C= (p.Gln1023=)
c.2129-598C= (n.2129-598C=)
n.3140C=
n.3348C=
c.2557C= (p.Gln853=)
c.1582C= (p.Gln528=)
c.2296C= (p.Gln766=)
c.3274C= (p.Gln1092=)
n.3092C=
n.3300C=
1g.197435002C>GCA344045923CRB1c.3139C>G (p.Gln1047Glu)
c.2020C>G (p.Gln674Glu)
c.1282C>G (p.Gln428Glu)
c.2803C>G (p.Gln935Glu)
c.3067C>G (p.Gln1023Glu)
c.2129-598C>G (n.2129-598C>G)
n.3140C>G
n.3348C>G
c.2557C>G (p.Gln853Glu)
c.1582C>G (p.Gln528Glu)
c.2296C>G (p.Gln766Glu)
c.3274C>G (p.Gln1092Glu)
n.3092C>G
n.3300C>G
1g.197435002C>TCA344045924CRB1c.3139C>T (p.Gln1047Ter)
c.2020C>T (p.Gln674Ter)
c.1282C>T (p.Gln428Ter)
c.2803C>T (p.Gln935Ter)
c.3067C>T (p.Gln1023Ter)
c.2129-598C>T (n.2129-598C>T)
n.3140C>T
n.3348C>T
c.2557C>T (p.Gln853Ter)
c.1582C>T (p.Gln528Ter)
c.2296C>T (p.Gln766Ter)
c.3274C>T (p.Gln1092Ter)
n.3092C>T
n.3300C>T
 dbSNP gnomAD v2
1g.197435003A>CCA344045925CRB1c.3140A>C (p.Gln1047Pro)
c.2021A>C (p.Gln674Pro)
c.1283A>C (p.Gln428Pro)
c.2804A>C (p.Gln935Pro)
c.3068A>C (p.Gln1023Pro)
c.2129-597A>C (n.2129-597A>C)
n.3141A>C
n.3349A>C
c.2558A>C (p.Gln853Pro)
c.1583A>C (p.Gln528Pro)
c.2297A>C (p.Gln766Pro)
c.3275A>C (p.Gln1092Pro)
n.3093A>C
n.3301A>C
1g.197435003A>GCA344045929CRB1c.3140A>G (p.Gln1047Arg)
c.2021A>G (p.Gln674Arg)
c.1283A>G (p.Gln428Arg)
c.2804A>G (p.Gln935Arg)
c.3068A>G (p.Gln1023Arg)
c.2129-597A>G (n.2129-597A>G)
n.3141A>G
n.3349A>G
c.2558A>G (p.Gln853Arg)
c.1583A>G (p.Gln528Arg)
c.2297A>G (p.Gln766Arg)
c.3275A>G (p.Gln1092Arg)
n.3093A>G
n.3301A>G
1g.197435003A>TCA344045944CRB1c.3140A>T (p.Gln1047Leu)
c.2021A>T (p.Gln674Leu)
c.1283A>T (p.Gln428Leu)
c.2804A>T (p.Gln935Leu)
c.3068A>T (p.Gln1023Leu)
c.2129-597A>T (n.2129-597A>T)
n.3141A>T
n.3349A>T
c.2558A>T (p.Gln853Leu)
c.1583A>T (p.Gln528Leu)
c.2297A>T (p.Gln766Leu)
c.3275A>T (p.Gln1092Leu)
n.3093A>T
n.3301A>T
1g.197435004G>ACA422808886CRB1c.3141G>A (p.Gln1047=)
c.2022G>A (p.Gln674=)
c.1284G>A (p.Gln428=)
c.2805G>A (p.Gln935=)
c.3069G>A (p.Gln1023=)
c.2129-596G>A (n.2129-596G>A)
n.3142G>A
n.3350G>A
c.2559G>A (p.Gln853=)
c.1584G>A (p.Gln528=)
c.2298G>A (p.Gln766=)
c.3276G>A (p.Gln1092=)
n.3094G>A
n.3302G>A
1g.197435004G>CCA344045963CRB1c.3141G>C (p.Gln1047His)
c.2022G>C (p.Gln674His)
c.1284G>C (p.Gln428His)
c.2805G>C (p.Gln935His)
c.3069G>C (p.Gln1023His)
c.2129-596G>C (n.2129-596G>C)
n.3142G>C
n.3350G>C
c.2559G>C (p.Gln853His)
c.1584G>C (p.Gln528His)
c.2298G>C (p.Gln766His)
c.3276G>C (p.Gln1092His)
n.3094G>C
n.3302G>C
 dbSNP gnomAD v2 gnomAD v4
1g.197435004G=CA1218068754CRB1c.3141G= (p.Gln1047=)
c.2022G= (p.Gln674=)
c.1284G= (p.Gln428=)
c.2805G= (p.Gln935=)
c.3069G= (p.Gln1023=)
c.2129-596G= (n.2129-596G=)
n.3142G=
n.3350G=
c.2559G= (p.Gln853=)
c.1584G= (p.Gln528=)
c.2298G= (p.Gln766=)
c.3276G= (p.Gln1092=)
n.3094G=
n.3302G=
1g.197435004G>TCA344045964CRB1c.3141G>T (p.Gln1047His)
c.2022G>T (p.Gln674His)
c.1284G>T (p.Gln428His)
c.2805G>T (p.Gln935His)
c.3069G>T (p.Gln1023His)
c.2129-596G>T (n.2129-596G>T)
n.3142G>T
n.3350G>T
c.2559G>T (p.Gln853His)
c.1584G>T (p.Gln528His)
c.2298G>T (p.Gln766His)
c.3276G>T (p.Gln1092His)
n.3094G>T
n.3302G>T
1g.197435005A>CCA344045967CRB1c.3142A>C (p.Thr1048Pro)
c.2023A>C (p.Thr675Pro)
c.1285A>C (p.Thr429Pro)
c.2806A>C (p.Thr936Pro)
c.3070A>C (p.Thr1024Pro)
c.2129-595A>C (n.2129-595A>C)
n.3143A>C
n.3351A>C
c.2560A>C (p.Thr854Pro)
c.1585A>C (p.Thr529Pro)
c.2299A>C (p.Thr767Pro)
c.3277A>C (p.Thr1093Pro)
n.3095A>C
n.3303A>C
1g.197435005A>GCA344045969CRB1c.3142A>G (p.Thr1048Ala)
c.2023A>G (p.Thr675Ala)
c.1285A>G (p.Thr429Ala)
c.2806A>G (p.Thr936Ala)
c.3070A>G (p.Thr1024Ala)
c.2129-595A>G (n.2129-595A>G)
n.3143A>G
n.3351A>G
c.2560A>G (p.Thr854Ala)
c.1585A>G (p.Thr529Ala)
c.2299A>G (p.Thr767Ala)
c.3277A>G (p.Thr1093Ala)
n.3095A>G
n.3303A>G
1g.197435005A>TCA344045970CRB1c.3142A>T (p.Thr1048Ser)
c.2023A>T (p.Thr675Ser)
c.1285A>T (p.Thr429Ser)
c.2806A>T (p.Thr936Ser)
c.3070A>T (p.Thr1024Ser)
c.2129-595A>T (n.2129-595A>T)
n.3143A>T
n.3351A>T
c.2560A>T (p.Thr854Ser)
c.1585A>T (p.Thr529Ser)
c.2299A>T (p.Thr767Ser)
c.3277A>T (p.Thr1093Ser)
n.3095A>T
n.3303A>T
 gnomAD v4
1g.197435005_197435006delinsACCA1218068755CRB1c.3142_3143delinsAC (p.Thr1048=)
c.2023_2024delinsAC (p.Thr675=)
c.1285_1286delinsAC (p.Thr429=)
c.2806_2807delinsAC (p.Thr936=)
c.3070_3071delinsAC (p.Thr1024=)
c.2129-595_2129-594delinsAC (n.2129-595_2129-594delinsAC)
n.3143_3144delinsAC
n.3351_3352delinsAC
c.2560_2561delinsAC (p.Thr854=)
c.1585_1586delinsAC (p.Thr529=)
c.2299_2300delinsAC (p.Thr767=)
c.3277_3278delinsAC (p.Thr1093=)
n.3095_3096delinsAC
n.3303_3304delinsAC
1g.197435005_197435017delinsACCTCCAGGTGGCCA1218068756CRB1c.3142_3154delinsACCTCCAGGTGGC (p.Thr1048=)
c.2023_2035delinsACCTCCAGGTGGC (p.Thr675=)
c.1285_1297delinsACCTCCAGGTGGC (p.Thr429=)
c.2806_2818delinsACCTCCAGGTGGC (p.Thr936=)
c.3070_3082delinsACCTCCAGGTGGC (p.Thr1024=)
c.2129-595_2129-583delinsACCTCCAGGTGGC (n.2129-595_2129-583delinsACCTCCAGGTGGC)
n.3143_3155delinsACCTCCAGGTGGC
n.3351_3363delinsACCTCCAGGTGGC
c.2560_2572delinsACCTCCAGGTGGC (p.Thr854=)
c.1585_1597delinsACCTCCAGGTGGC (p.Thr529=)
c.2299_2311delinsACCTCCAGGTGGC (p.Thr767=)
c.3277_3289delinsACCTCCAGGTGGC (p.Thr1093=)
n.3095_3107delinsACCTCCAGGTGGC
n.3303_3315delinsACCTCCAGGTGGC
1g.197435006C>ACA344045980CRB1c.3143C>A (p.Thr1048Asn)
c.2024C>A (p.Thr675Asn)
c.1286C>A (p.Thr429Asn)
c.2807C>A (p.Thr936Asn)
c.3071C>A (p.Thr1024Asn)
c.2129-594C>A (n.2129-594C>A)
n.3144C>A
n.3352C>A
c.2561C>A (p.Thr854Asn)
c.1586C>A (p.Thr529Asn)
c.2300C>A (p.Thr767Asn)
c.3278C>A (p.Thr1093Asn)
n.3096C>A
n.3304C>A
1g.197435006C>GCA344045977CRB1c.3143C>G (p.Thr1048Ser)
c.2024C>G (p.Thr675Ser)
c.1286C>G (p.Thr429Ser)
c.2807C>G (p.Thr936Ser)
c.3071C>G (p.Thr1024Ser)
c.2129-594C>G (n.2129-594C>G)
n.3144C>G
n.3352C>G
c.2561C>G (p.Thr854Ser)
c.1586C>G (p.Thr529Ser)
c.2300C>G (p.Thr767Ser)
c.3278C>G (p.Thr1093Ser)
n.3096C>G
n.3304C>G
1g.197435006C>TCA344045972CRB1c.3143C>T (p.Thr1048Ile)
c.2024C>T (p.Thr675Ile)
c.1286C>T (p.Thr429Ile)
c.2807C>T (p.Thr936Ile)
c.3071C>T (p.Thr1024Ile)
c.2129-594C>T (n.2129-594C>T)
n.3144C>T
n.3352C>T
c.2561C>T (p.Thr854Ile)
c.1586C>T (p.Thr529Ile)
c.2300C>T (p.Thr767Ile)
c.3278C>T (p.Thr1093Ile)
n.3096C>T
n.3304C>T
1g.197435007delCA528535387CRB1c.3144del (p.Ser1049ProfsTer14)
c.2025del (p.Ser676ProfsTer14)
c.1287del (p.Ser430ProfsTer14)
c.2808del (p.Ser937ProfsTer14)
c.3072del (p.Ser1025ProfsTer14)
c.2129-593del (n.2129-593del)
n.3145del
n.3353del
c.2562del (p.Ser855ProfsTer14)
c.1587del (p.Ser530ProfsTer14)
c.2301del (p.Ser768ProfsTer14)
c.3279del (p.Ser1094ProfsTer14)
n.3097del
n.3305del
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197435006_197435017delinsACA1139656481CRB1c.3143_3154delinsA (p.Thr1048LysfsTer26)
c.2024_2035delinsA (p.Thr675LysfsTer26)
c.1286_1297delinsA (p.Thr429LysfsTer26)
c.2807_2818delinsA (p.Thr936LysfsTer26)
c.3071_3082delinsA (p.Thr1024LysfsTer26)
c.2129-594_2129-583delinsA (n.2129-594_2129-583delinsA)
n.3144_3155delinsA
n.3352_3363delinsA
c.2561_2572delinsA (p.Thr854LysfsTer26)
c.1586_1597delinsA (p.Thr529LysfsTer26)
c.2300_2311delinsA (p.Thr767LysfsTer26)
c.3278_3289delinsA (p.Thr1093LysfsTer26)
n.3096_3107delinsA
n.3304_3315delinsA
 ClinVar dbSNP
1g.197435007C>ACA422808892CRB1c.3144C>A (p.Thr1048=)
c.2025C>A (p.Thr675=)
c.1287C>A (p.Thr429=)
c.2808C>A (p.Thr936=)
c.3072C>A (p.Thr1024=)
c.2129-593C>A (n.2129-593C>A)
n.3145C>A
n.3353C>A
c.2562C>A (p.Thr854=)
c.1587C>A (p.Thr529=)
c.2301C>A (p.Thr767=)
c.3279C>A (p.Thr1093=)
n.3097C>A
n.3305C>A
1g.197435007C>GCA422808893CRB1c.3144C>G (p.Thr1048=)
c.2025C>G (p.Thr675=)
c.1287C>G (p.Thr429=)
c.2808C>G (p.Thr936=)
c.3072C>G (p.Thr1024=)
c.2129-593C>G (n.2129-593C>G)
n.3145C>G
n.3353C>G
c.2562C>G (p.Thr854=)
c.1587C>G (p.Thr529=)
c.2301C>G (p.Thr767=)
c.3279C>G (p.Thr1093=)
n.3097C>G
n.3305C>G
 gnomAD v4
1g.197435007C>TCA422808894CRB1c.3144C>T (p.Thr1048=)
c.2025C>T (p.Thr675=)
c.1287C>T (p.Thr429=)
c.2808C>T (p.Thr936=)
c.3072C>T (p.Thr1024=)
c.2129-593C>T (n.2129-593C>T)
n.3145C>T
n.3353C>T
c.2562C>T (p.Thr854=)
c.1587C>T (p.Thr529=)
c.2301C>T (p.Thr767=)
c.3279C>T (p.Thr1093=)
n.3097C>T
n.3305C>T
 ClinVar dbSNP
1g.197435008T>ACA344045986CRB1c.3145T>A (p.Ser1049Thr)
c.2026T>A (p.Ser676Thr)
c.1288T>A (p.Ser430Thr)
c.2809T>A (p.Ser937Thr)
c.3073T>A (p.Ser1025Thr)
c.2129-592T>A (n.2129-592T>A)
n.3146T>A
n.3354T>A
c.2563T>A (p.Ser855Thr)
c.1588T>A (p.Ser530Thr)
c.2302T>A (p.Ser768Thr)
c.3280T>A (p.Ser1094Thr)
n.3098T>A
n.3306T>A
1g.197435008T>CCA344045988CRB1c.3145T>C (p.Ser1049Pro)
c.2026T>C (p.Ser676Pro)
c.1288T>C (p.Ser430Pro)
c.2809T>C (p.Ser937Pro)
c.3073T>C (p.Ser1025Pro)
c.2129-592T>C (n.2129-592T>C)
n.3146T>C
n.3354T>C
c.2563T>C (p.Ser855Pro)
c.1588T>C (p.Ser530Pro)
c.2302T>C (p.Ser768Pro)
c.3280T>C (p.Ser1094Pro)
n.3098T>C
n.3306T>C
 ClinVar
1g.197435008T>GCA344045990CRB1c.3145T>G (p.Ser1049Ala)
c.2026T>G (p.Ser676Ala)
c.1288T>G (p.Ser430Ala)
c.2809T>G (p.Ser937Ala)
c.3073T>G (p.Ser1025Ala)
c.2129-592T>G (n.2129-592T>G)
n.3146T>G
n.3354T>G
c.2563T>G (p.Ser855Ala)
c.1588T>G (p.Ser530Ala)
c.2302T>G (p.Ser768Ala)
c.3280T>G (p.Ser1094Ala)
n.3098T>G
n.3306T>G
1g.197435009C>ACA344045997CRB1c.3146C>A (p.Ser1049Tyr)
c.2027C>A (p.Ser676Tyr)
c.1289C>A (p.Ser430Tyr)
c.2810C>A (p.Ser937Tyr)
c.3074C>A (p.Ser1025Tyr)
c.2129-591C>A (n.2129-591C>A)
n.3147C>A
n.3355C>A
c.2564C>A (p.Ser855Tyr)
c.1589C>A (p.Ser530Tyr)
c.2303C>A (p.Ser768Tyr)
c.3281C>A (p.Ser1094Tyr)
n.3099C>A
n.3307C>A
1g.197435009C=CA1218068757CRB1c.3146C= (p.Ser1049=)
c.2027C= (p.Ser676=)
c.1289C= (p.Ser430=)
c.2810C= (p.Ser937=)
c.3074C= (p.Ser1025=)
c.2129-591C= (n.2129-591C=)
n.3147C=
n.3355C=
c.2564C= (p.Ser855=)
c.1589C= (p.Ser530=)
c.2303C= (p.Ser768=)
c.3281C= (p.Ser1094=)
n.3099C=
n.3307C=
1g.197435009C>GCA344046004CRB1c.3146C>G (p.Ser1049Cys)
c.2027C>G (p.Ser676Cys)
c.1289C>G (p.Ser430Cys)
c.2810C>G (p.Ser937Cys)
c.3074C>G (p.Ser1025Cys)
c.2129-591C>G (n.2129-591C>G)
n.3147C>G
n.3355C>G
c.2564C>G (p.Ser855Cys)
c.1589C>G (p.Ser530Cys)
c.2303C>G (p.Ser768Cys)
c.3281C>G (p.Ser1094Cys)
n.3099C>G
n.3307C>G
 ClinVar dbSNP gnomAD v4
1g.197435009C>TCA344046022CRB1c.3146C>T (p.Ser1049Phe)
c.2027C>T (p.Ser676Phe)
c.1289C>T (p.Ser430Phe)
c.2810C>T (p.Ser937Phe)
c.3074C>T (p.Ser1025Phe)
c.2129-591C>T (n.2129-591C>T)
n.3147C>T
n.3355C>T
c.2564C>T (p.Ser855Phe)
c.1589C>T (p.Ser530Phe)
c.2303C>T (p.Ser768Phe)
c.3281C>T (p.Ser1094Phe)
n.3099C>T
n.3307C>T
1g.197435010C>ACA422809030CRB1c.3147C>A (p.Ser1049=)
c.2028C>A (p.Ser676=)
c.1290C>A (p.Ser430=)
c.2811C>A (p.Ser937=)
c.3075C>A (p.Ser1025=)
c.2129-590C>A (n.2129-590C>A)
n.3148C>A
n.3356C>A
c.2565C>A (p.Ser855=)
c.1590C>A (p.Ser530=)
c.2304C>A (p.Ser768=)
c.3282C>A (p.Ser1094=)
n.3100C>A
n.3308C>A
1g.197435010C=CA1218068758CRB1c.3147C= (p.Ser1049=)
c.2028C= (p.Ser676=)
c.1290C= (p.Ser430=)
c.2811C= (p.Ser937=)
c.3075C= (p.Ser1025=)
c.2129-590C= (n.2129-590C=)
n.3148C=
n.3356C=
c.2565C= (p.Ser855=)
c.1590C= (p.Ser530=)
c.2304C= (p.Ser768=)
c.3282C= (p.Ser1094=)
n.3100C=
n.3308C=
1g.197435010C>GCA422809032CRB1c.3147C>G (p.Ser1049=)
c.2028C>G (p.Ser676=)
c.1290C>G (p.Ser430=)
c.2811C>G (p.Ser937=)
c.3075C>G (p.Ser1025=)
c.2129-590C>G (n.2129-590C>G)
n.3148C>G
n.3356C>G
c.2565C>G (p.Ser855=)
c.1590C>G (p.Ser530=)
c.2304C>G (p.Ser768=)
c.3282C>G (p.Ser1094=)
n.3100C>G
n.3308C>G
1g.197435010C>TCA422809035CRB1c.3147C>T (p.Ser1049=)
c.2028C>T (p.Ser676=)
c.1290C>T (p.Ser430=)
c.2811C>T (p.Ser937=)
c.3075C>T (p.Ser1025=)
c.2129-590C>T (n.2129-590C>T)
n.3148C>T
n.3356C>T
c.2565C>T (p.Ser855=)
c.1590C>T (p.Ser530=)
c.2304C>T (p.Ser768=)
c.3282C>T (p.Ser1094=)
n.3100C>T
n.3308C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197435011A=CA1218068759CRB1c.3148A= (p.Arg1050=)
c.2029A= (p.Arg677=)
c.1291A= (p.Arg431=)
c.2812A= (p.Arg938=)
c.3076A= (p.Arg1026=)
c.2129-589A= (n.2129-589A=)
n.3149A=
n.3357A=
c.2566A= (p.Arg856=)
c.1591A= (p.Arg531=)
c.2305A= (p.Arg769=)
c.3283A= (p.Arg1095=)
n.3101A=
n.3309A=
1g.197435011A>CCA422809036CRB1c.3148A>C (p.Arg1050=)
c.2029A>C (p.Arg677=)
c.1291A>C (p.Arg431=)
c.2812A>C (p.Arg938=)
c.3076A>C (p.Arg1026=)
c.2129-589A>C (n.2129-589A>C)
n.3149A>C
n.3357A>C
c.2566A>C (p.Arg856=)
c.1591A>C (p.Arg531=)
c.2305A>C (p.Arg769=)
c.3283A>C (p.Arg1095=)
n.3101A>C
n.3309A>C
1g.197435011A>GCA344046025CRB1c.3148A>G (p.Arg1050Gly)
c.2029A>G (p.Arg677Gly)
c.1291A>G (p.Arg431Gly)
c.2812A>G (p.Arg938Gly)
c.3076A>G (p.Arg1026Gly)
c.2129-589A>G (n.2129-589A>G)
n.3149A>G
n.3357A>G
c.2566A>G (p.Arg856Gly)
c.1591A>G (p.Arg531Gly)
c.2305A>G (p.Arg769Gly)
c.3283A>G (p.Arg1095Gly)
n.3101A>G
n.3309A>G
 dbSNP gnomAD v3 gnomAD v4
1g.197435011A>TCA344046027CRB1c.3148A>T (p.Arg1050Trp)
c.2029A>T (p.Arg677Trp)
c.1291A>T (p.Arg431Trp)
c.2812A>T (p.Arg938Trp)
c.3076A>T (p.Arg1026Trp)
c.2129-589A>T (n.2129-589A>T)
n.3149A>T
n.3357A>T
c.2566A>T (p.Arg856Trp)
c.1591A>T (p.Arg531Trp)
c.2305A>T (p.Arg769Trp)
c.3283A>T (p.Arg1095Trp)
n.3101A>T
n.3309A>T
1g.197435012G>ACA344046031CRB1c.3149G>A (p.Arg1050Lys)
c.2030G>A (p.Arg677Lys)
c.1292G>A (p.Arg431Lys)
c.2813G>A (p.Arg938Lys)
c.3077G>A (p.Arg1026Lys)
c.2129-588G>A (n.2129-588G>A)
n.3150G>A
n.3358G>A
c.2567G>A (p.Arg856Lys)
c.1592G>A (p.Arg531Lys)
c.2306G>A (p.Arg769Lys)
c.3284G>A (p.Arg1095Lys)
n.3102G>A
n.3310G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197435012G>CCA344046036CRB1c.3149G>C (p.Arg1050Thr)
c.2030G>C (p.Arg677Thr)
c.1292G>C (p.Arg431Thr)
c.2813G>C (p.Arg938Thr)
c.3077G>C (p.Arg1026Thr)
c.2129-588G>C (n.2129-588G>C)
n.3150G>C
n.3358G>C
c.2567G>C (p.Arg856Thr)
c.1592G>C (p.Arg531Thr)
c.2306G>C (p.Arg769Thr)
c.3284G>C (p.Arg1095Thr)
n.3102G>C
n.3310G>C
1g.197435012G=CA1218068760CRB1c.3149G= (p.Arg1050=)
c.2030G= (p.Arg677=)
c.1292G= (p.Arg431=)
c.2813G= (p.Arg938=)
c.3077G= (p.Arg1026=)
c.2129-588G= (n.2129-588G=)
n.3150G=
n.3358G=
c.2567G= (p.Arg856=)
c.1592G= (p.Arg531=)
c.2306G= (p.Arg769=)
c.3284G= (p.Arg1095=)
n.3102G=
n.3310G=
1g.197435012G>TCA344046038CRB1c.3149G>T (p.Arg1050Met)
c.2030G>T (p.Arg677Met)
c.1292G>T (p.Arg431Met)
c.2813G>T (p.Arg938Met)
c.3077G>T (p.Arg1026Met)
c.2129-588G>T (n.2129-588G>T)
n.3150G>T
n.3358G>T
c.2567G>T (p.Arg856Met)
c.1592G>T (p.Arg531Met)
c.2306G>T (p.Arg769Met)
c.3284G>T (p.Arg1095Met)
n.3102G>T
n.3310G>T
1g.197435013G>ACA1312283CRB1c.3150G>A (p.Arg1050=)
c.2031G>A (p.Arg677=)
c.1293G>A (p.Arg431=)
c.2814G>A (p.Arg938=)
c.3078G>A (p.Arg1026=)
c.2129-587G>A (n.2129-587G>A)
n.3151G>A
n.3359G>A
c.2568G>A (p.Arg856=)
c.1593G>A (p.Arg531=)
c.2307G>A (p.Arg769=)
c.3285G>A (p.Arg1095=)
n.3103G>A
n.3311G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435013G>CCA344046047CRB1c.3150G>C (p.Arg1050Ser)
c.2031G>C (p.Arg677Ser)
c.1293G>C (p.Arg431Ser)
c.2814G>C (p.Arg938Ser)
c.3078G>C (p.Arg1026Ser)
c.2129-587G>C (n.2129-587G>C)
n.3151G>C
n.3359G>C
c.2568G>C (p.Arg856Ser)
c.1593G>C (p.Arg531Ser)
c.2307G>C (p.Arg769Ser)
c.3285G>C (p.Arg1095Ser)
n.3103G>C
n.3311G>C
1g.197435013G=CA1218068761CRB1c.3150G= (p.Arg1050=)
c.2031G= (p.Arg677=)
c.1293G= (p.Arg431=)
c.2814G= (p.Arg938=)
c.3078G= (p.Arg1026=)
c.2129-587G= (n.2129-587G=)
n.3151G=
n.3359G=
c.2568G= (p.Arg856=)
c.1593G= (p.Arg531=)
c.2307G= (p.Arg769=)
c.3285G= (p.Arg1095=)
n.3103G=
n.3311G=
1g.197435013G>TCA344046041CRB1c.3150G>T (p.Arg1050Ser)
c.2031G>T (p.Arg677Ser)
c.1293G>T (p.Arg431Ser)
c.2814G>T (p.Arg938Ser)
c.3078G>T (p.Arg1026Ser)
c.2129-587G>T (n.2129-587G>T)
n.3151G>T
n.3359G>T
c.2568G>T (p.Arg856Ser)
c.1593G>T (p.Arg531Ser)
c.2307G>T (p.Arg769Ser)
c.3285G>T (p.Arg1095Ser)
n.3103G>T
n.3311G>T
1g.197435014T>ACA344046073CRB1c.3151T>A (p.Trp1051Arg)
c.2032T>A (p.Trp678Arg)
c.1294T>A (p.Trp432Arg)
c.2815T>A (p.Trp939Arg)
c.3079T>A (p.Trp1027Arg)
c.2129-586T>A (n.2129-586T>A)
n.3152T>A
n.3360T>A
c.2569T>A (p.Trp857Arg)
c.1594T>A (p.Trp532Arg)
c.2308T>A (p.Trp770Arg)
c.3286T>A (p.Trp1096Arg)
n.3104T>A
n.3312T>A
1g.197435014T>CCA344046079CRB1c.3151T>C (p.Trp1051Arg)
c.2032T>C (p.Trp678Arg)
c.1294T>C (p.Trp432Arg)
c.2815T>C (p.Trp939Arg)
c.3079T>C (p.Trp1027Arg)
c.2129-586T>C (n.2129-586T>C)
n.3152T>C
n.3360T>C
c.2569T>C (p.Trp857Arg)
c.1594T>C (p.Trp532Arg)
c.2308T>C (p.Trp770Arg)
c.3286T>C (p.Trp1096Arg)
n.3104T>C
n.3312T>C
1g.197435014T>GCA344046081CRB1c.3151T>G (p.Trp1051Gly)
c.2032T>G (p.Trp678Gly)
c.1294T>G (p.Trp432Gly)
c.2815T>G (p.Trp939Gly)
c.3079T>G (p.Trp1027Gly)
c.2129-586T>G (n.2129-586T>G)
n.3152T>G
n.3360T>G
c.2569T>G (p.Trp857Gly)
c.1594T>G (p.Trp532Gly)
c.2308T>G (p.Trp770Gly)
c.3286T>G (p.Trp1096Gly)
n.3104T>G
n.3312T>G
1g.197435015G>ACA344046087CRB1c.3152G>A (p.Trp1051Ter)
c.2033G>A (p.Trp678Ter)
c.1295G>A (p.Trp432Ter)
c.2816G>A (p.Trp939Ter)
c.3080G>A (p.Trp1027Ter)
c.2129-585G>A (n.2129-585G>A)
n.3153G>A
n.3361G>A
c.2570G>A (p.Trp857Ter)
c.1595G>A (p.Trp532Ter)
c.2309G>A (p.Trp770Ter)
c.3287G>A (p.Trp1096Ter)
n.3105G>A
n.3313G>A
 ClinVar dbSNP gnomAD v4
1g.197435015G>CCA344046092CRB1c.3152G>C (p.Trp1051Ser)
c.2033G>C (p.Trp678Ser)
c.1295G>C (p.Trp432Ser)
c.2816G>C (p.Trp939Ser)
c.3080G>C (p.Trp1027Ser)
c.2129-585G>C (n.2129-585G>C)
n.3153G>C
n.3361G>C
c.2570G>C (p.Trp857Ser)
c.1595G>C (p.Trp532Ser)
c.2309G>C (p.Trp770Ser)
c.3287G>C (p.Trp1096Ser)
n.3105G>C
n.3313G>C
 gnomAD v4
1g.197435015G=CA1218068762CRB1c.3152G= (p.Trp1051=)
c.2033G= (p.Trp678=)
c.1295G= (p.Trp432=)
c.2816G= (p.Trp939=)
c.3080G= (p.Trp1027=)
c.2129-585G= (n.2129-585G=)
n.3153G=
n.3361G=
c.2570G= (p.Trp857=)
c.1595G= (p.Trp532=)
c.2309G= (p.Trp770=)
c.3287G= (p.Trp1096=)
n.3105G=
n.3313G=
1g.197435015G>TCA344046096CRB1c.3152G>T (p.Trp1051Leu)
c.2033G>T (p.Trp678Leu)
c.1295G>T (p.Trp432Leu)
c.2816G>T (p.Trp939Leu)
c.3080G>T (p.Trp1027Leu)
c.2129-585G>T (n.2129-585G>T)
n.3153G>T
n.3361G>T
c.2570G>T (p.Trp857Leu)
c.1595G>T (p.Trp532Leu)
c.2309G>T (p.Trp770Leu)
c.3287G>T (p.Trp1096Leu)
n.3105G>T
n.3313G>T
1g.197435016G>ACA344046113CRB1c.3153G>A (p.Trp1051Ter)
c.2034G>A (p.Trp678Ter)
c.1296G>A (p.Trp432Ter)
c.2817G>A (p.Trp939Ter)
c.3081G>A (p.Trp1027Ter)
c.2129-584G>A (n.2129-584G>A)
n.3154G>A
n.3362G>A
c.2571G>A (p.Trp857Ter)
c.1596G>A (p.Trp532Ter)
c.2310G>A (p.Trp770Ter)
c.3288G>A (p.Trp1096Ter)
n.3106G>A
n.3314G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197435016G>CCA344046125CRB1c.3153G>C (p.Trp1051Cys)
c.2034G>C (p.Trp678Cys)
c.1296G>C (p.Trp432Cys)
c.2817G>C (p.Trp939Cys)
c.3081G>C (p.Trp1027Cys)
c.2129-584G>C (n.2129-584G>C)
n.3154G>C
n.3362G>C
c.2571G>C (p.Trp857Cys)
c.1596G>C (p.Trp532Cys)
c.2310G>C (p.Trp770Cys)
c.3288G>C (p.Trp1096Cys)
n.3106G>C
n.3314G>C
1g.197435016G=CA1218068763CRB1c.3153G= (p.Trp1051=)
c.2034G= (p.Trp678=)
c.1296G= (p.Trp432=)
c.2817G= (p.Trp939=)
c.3081G= (p.Trp1027=)
c.2129-584G= (n.2129-584G=)
n.3154G=
n.3362G=
c.2571G= (p.Trp857=)
c.1596G= (p.Trp532=)
c.2310G= (p.Trp770=)
c.3288G= (p.Trp1096=)
n.3106G=
n.3314G=
1g.197435016G>TCA344046127CRB1c.3153G>T (p.Trp1051Cys)
c.2034G>T (p.Trp678Cys)
c.1296G>T (p.Trp432Cys)
c.2817G>T (p.Trp939Cys)
c.3081G>T (p.Trp1027Cys)
c.2129-584G>T (n.2129-584G>T)
n.3154G>T
n.3362G>T
c.2571G>T (p.Trp857Cys)
c.1596G>T (p.Trp532Cys)
c.2310G>T (p.Trp770Cys)
c.3288G>T (p.Trp1096Cys)
n.3106G>T
n.3314G>T
1g.197435017C>ACA344046138CRB1c.3154C>A (p.Gln1052Lys)
c.2035C>A (p.Gln679Lys)
c.1297C>A (p.Gln433Lys)
c.2818C>A (p.Gln940Lys)
c.3082C>A (p.Gln1028Lys)
c.2129-583C>A (n.2129-583C>A)
n.3155C>A
n.3363C>A
c.2572C>A (p.Gln858Lys)
c.1597C>A (p.Gln533Lys)
c.2311C>A (p.Gln771Lys)
c.3289C>A (p.Gln1097Lys)
n.3107C>A
n.3315C>A
1g.197435017C>GCA344046141CRB1c.3154C>G (p.Gln1052Glu)
c.2035C>G (p.Gln679Glu)
c.1297C>G (p.Gln433Glu)
c.2818C>G (p.Gln940Glu)
c.3082C>G (p.Gln1028Glu)
c.2129-583C>G (n.2129-583C>G)
n.3155C>G
n.3363C>G
c.2572C>G (p.Gln858Glu)
c.1597C>G (p.Gln533Glu)
c.2311C>G (p.Gln771Glu)
c.3289C>G (p.Gln1097Glu)
n.3107C>G
n.3315C>G
1g.197435017C>TCA344046145CRB1c.3154C>T (p.Gln1052Ter)
c.2035C>T (p.Gln679Ter)
c.1297C>T (p.Gln433Ter)
c.2818C>T (p.Gln940Ter)
c.3082C>T (p.Gln1028Ter)
c.2129-583C>T (n.2129-583C>T)
n.3155C>T
n.3363C>T
c.2572C>T (p.Gln858Ter)
c.1597C>T (p.Gln533Ter)
c.2311C>T (p.Gln771Ter)
c.3289C>T (p.Gln1097Ter)
n.3107C>T
n.3315C>T
1g.197435018A=CA1142076694CRB1c.3155A= (p.Gln1052=)
c.2036A= (p.Gln679=)
c.1298A= (p.Gln433=)
c.2819A= (p.Gln940=)
c.3083A= (p.Gln1028=)
c.2129-582A= (n.2129-582A=)
n.3156A=
n.3364A=
c.2573A= (p.Gln858=)
c.1598A= (p.Gln533=)
c.2312A= (p.Gln771=)
c.3290A= (p.Gln1097=)
n.3108A=
n.3316A=
1g.197435018A>CCA344046167CRB1c.3155A>C (p.Gln1052Pro)
c.2036A>C (p.Gln679Pro)
c.1298A>C (p.Gln433Pro)
c.2819A>C (p.Gln940Pro)
c.3083A>C (p.Gln1028Pro)
c.2129-582A>C (n.2129-582A>C)
n.3156A>C
n.3364A>C
c.2573A>C (p.Gln858Pro)
c.1598A>C (p.Gln533Pro)
c.2312A>C (p.Gln771Pro)
c.3290A>C (p.Gln1097Pro)
n.3108A>C
n.3316A>C
1g.197435018A>GCA35907060CRB1c.3155A>G (p.Gln1052Arg)
c.2036A>G (p.Gln679Arg)
c.1298A>G (p.Gln433Arg)
c.2819A>G (p.Gln940Arg)
c.3083A>G (p.Gln1028Arg)
c.2129-582A>G (n.2129-582A>G)
n.3156A>G
n.3364A>G
c.2573A>G (p.Gln858Arg)
c.1598A>G (p.Gln533Arg)
c.2312A>G (p.Gln771Arg)
c.3290A>G (p.Gln1097Arg)
n.3108A>G
n.3316A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197435018A>TCA344046151CRB1c.3155A>T (p.Gln1052Leu)
c.2036A>T (p.Gln679Leu)
c.1298A>T (p.Gln433Leu)
c.2819A>T (p.Gln940Leu)
c.3083A>T (p.Gln1028Leu)
c.2129-582A>T (n.2129-582A>T)
n.3156A>T
n.3364A>T
c.2573A>T (p.Gln858Leu)
c.1598A>T (p.Gln533Leu)
c.2312A>T (p.Gln771Leu)
c.3290A>T (p.Gln1097Leu)
n.3108A>T
n.3316A>T
1g.197435019A>CCA344046169CRB1c.3156A>C (p.Gln1052His)
c.2037A>C (p.Gln679His)
c.1299A>C (p.Gln433His)
c.2820A>C (p.Gln940His)
c.3084A>C (p.Gln1028His)
c.2129-581A>C (n.2129-581A>C)
n.3157A>C
n.3365A>C
c.2574A>C (p.Gln858His)
c.1599A>C (p.Gln533His)
c.2313A>C (p.Gln771His)
c.3291A>C (p.Gln1097His)
n.3109A>C
n.3317A>C
1g.197435019A>GCA422809049CRB1c.3156A>G (p.Gln1052=)
c.2037A>G (p.Gln679=)
c.1299A>G (p.Gln433=)
c.2820A>G (p.Gln940=)
c.3084A>G (p.Gln1028=)
c.2129-581A>G (n.2129-581A>G)
n.3157A>G
n.3365A>G
c.2574A>G (p.Gln858=)
c.1599A>G (p.Gln533=)
c.2313A>G (p.Gln771=)
c.3291A>G (p.Gln1097=)
n.3109A>G
n.3317A>G
1g.197435019A>TCA344046175CRB1c.3156A>T (p.Gln1052His)
c.2037A>T (p.Gln679His)
c.1299A>T (p.Gln433His)
c.2820A>T (p.Gln940His)
c.3084A>T (p.Gln1028His)
c.2129-581A>T (n.2129-581A>T)
n.3157A>T
n.3365A>T
c.2574A>T (p.Gln858His)
c.1599A>T (p.Gln533His)
c.2313A>T (p.Gln771His)
c.3291A>T (p.Gln1097His)
n.3109A>T
n.3317A>T
1g.197435020A=CA1218068764CRB1c.3157A= (p.Met1053=)
c.2038A= (p.Met680=)
c.1300A= (p.Met434=)
c.2821A= (p.Met941=)
c.3085A= (p.Met1029=)
c.2129-580A= (n.2129-580A=)
n.3158A=
n.3366A=
c.2575A= (p.Met859=)
c.1600A= (p.Met534=)
c.2314A= (p.Met772=)
c.3292A= (p.Met1098=)
n.3110A=
n.3318A=
1g.197435020A>CCA344046186CRB1c.3157A>C (p.Met1053Leu)
c.2038A>C (p.Met680Leu)
c.1300A>C (p.Met434Leu)
c.2821A>C (p.Met941Leu)
c.3085A>C (p.Met1029Leu)
c.2129-580A>C (n.2129-580A>C)
n.3158A>C
n.3366A>C
c.2575A>C (p.Met859Leu)
c.1600A>C (p.Met534Leu)
c.2314A>C (p.Met772Leu)
c.3292A>C (p.Met1098Leu)
n.3110A>C
n.3318A>C
1g.197435020A>GCA1312284CRB1c.3157A>G (p.Met1053Val)
c.2038A>G (p.Met680Val)
c.1300A>G (p.Met434Val)
c.2821A>G (p.Met941Val)
c.3085A>G (p.Met1029Val)
c.2129-580A>G (n.2129-580A>G)
n.3158A>G
n.3366A>G
c.2575A>G (p.Met859Val)
c.1600A>G (p.Met534Val)
c.2314A>G (p.Met772Val)
c.3292A>G (p.Met1098Val)
n.3110A>G
n.3318A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197435020A>TCA344046188CRB1c.3157A>T (p.Met1053Leu)
c.2038A>T (p.Met680Leu)
c.1300A>T (p.Met434Leu)
c.2821A>T (p.Met941Leu)
c.3085A>T (p.Met1029Leu)
c.2129-580A>T (n.2129-580A>T)
n.3158A>T
n.3366A>T
c.2575A>T (p.Met859Leu)
c.1600A>T (p.Met534Leu)
c.2314A>T (p.Met772Leu)
c.3292A>T (p.Met1098Leu)
n.3110A>T
n.3318A>T
1g.197435021T>ACA344046192CRB1c.3158T>A (p.Met1053Lys)
c.2039T>A (p.Met680Lys)
c.1301T>A (p.Met434Lys)
c.2822T>A (p.Met941Lys)
c.3086T>A (p.Met1029Lys)
c.2129-579T>A (n.2129-579T>A)
n.3159T>A
n.3367T>A
c.2576T>A (p.Met859Lys)
c.1601T>A (p.Met534Lys)
c.2315T>A (p.Met772Lys)
c.3293T>A (p.Met1098Lys)
n.3111T>A
n.3319T>A
1g.197435021T>CCA344046193CRB1c.3158T>C (p.Met1053Thr)
c.2039T>C (p.Met680Thr)
c.1301T>C (p.Met434Thr)
c.2822T>C (p.Met941Thr)
c.3086T>C (p.Met1029Thr)
c.2129-579T>C (n.2129-579T>C)
n.3159T>C
n.3367T>C
c.2576T>C (p.Met859Thr)
c.1601T>C (p.Met534Thr)
c.2315T>C (p.Met772Thr)
c.3293T>C (p.Met1098Thr)
n.3111T>C
n.3319T>C
 gnomAD v4
1g.197435021T>GCA344046195CRB1c.3158T>G (p.Met1053Arg)
c.2039T>G (p.Met680Arg)
c.1301T>G (p.Met434Arg)
c.2822T>G (p.Met941Arg)
c.3086T>G (p.Met1029Arg)
c.2129-579T>G (n.2129-579T>G)
n.3159T>G
n.3367T>G
c.2576T>G (p.Met859Arg)
c.1601T>G (p.Met534Arg)
c.2315T>G (p.Met772Arg)
c.3293T>G (p.Met1098Arg)
n.3111T>G
n.3319T>G
1g.197435022G>ACA344046197CRB1c.3159G>A (p.Met1053Ile)
c.2040G>A (p.Met680Ile)
c.1302G>A (p.Met434Ile)
c.2823G>A (p.Met941Ile)
c.3087G>A (p.Met1029Ile)
c.2129-578G>A (n.2129-578G>A)
n.3160G>A
n.3368G>A
c.2577G>A (p.Met859Ile)
c.1602G>A (p.Met534Ile)
c.2316G>A (p.Met772Ile)
c.3294G>A (p.Met1098Ile)
n.3112G>A
n.3320G>A
1g.197435022G>CCA344046199CRB1c.3159G>C (p.Met1053Ile)
c.2040G>C (p.Met680Ile)
c.1302G>C (p.Met434Ile)
c.2823G>C (p.Met941Ile)
c.3087G>C (p.Met1029Ile)
c.2129-578G>C (n.2129-578G>C)
n.3160G>C
n.3368G>C
c.2577G>C (p.Met859Ile)
c.1602G>C (p.Met534Ile)
c.2316G>C (p.Met772Ile)
c.3294G>C (p.Met1098Ile)
n.3112G>C
n.3320G>C
1g.197435022G>TCA344046201CRB1c.3159G>T (p.Met1053Ile)
c.2040G>T (p.Met680Ile)
c.1302G>T (p.Met434Ile)
c.2823G>T (p.Met941Ile)
c.3087G>T (p.Met1029Ile)
c.2129-578G>T (n.2129-578G>T)
n.3160G>T
n.3368G>T
c.2577G>T (p.Met859Ile)
c.1602G>T (p.Met534Ile)
c.2316G>T (p.Met772Ile)
c.3294G>T (p.Met1098Ile)
n.3112G>T
n.3320G>T
 gnomAD v4
1g.197435023G>ACA344046206CRB1c.3160G>A (p.Glu1054Lys)
c.2041G>A (p.Glu681Lys)
c.1303G>A (p.Glu435Lys)
c.2824G>A (p.Glu942Lys)
c.3088G>A (p.Glu1030Lys)
c.2129-577G>A (n.2129-577G>A)
n.3161G>A
n.3369G>A
c.2578G>A (p.Glu860Lys)
c.1603G>A (p.Glu535Lys)
c.2317G>A (p.Glu773Lys)
c.3295G>A (p.Glu1099Lys)
n.3113G>A
n.3321G>A
1g.197435023G>CCA35907069CRB1c.3160G>C (p.Glu1054Gln)
c.2041G>C (p.Glu681Gln)
c.1303G>C (p.Glu435Gln)
c.2824G>C (p.Glu942Gln)
c.3088G>C (p.Glu1030Gln)
c.2129-577G>C (n.2129-577G>C)
n.3161G>C
n.3369G>C
c.2578G>C (p.Glu860Gln)
c.1603G>C (p.Glu535Gln)
c.2317G>C (p.Glu773Gln)
c.3295G>C (p.Glu1099Gln)
n.3113G>C
n.3321G>C
 dbSNP
1g.197435023G=CA1218068765CRB1c.3160G= (p.Glu1054=)
c.2041G= (p.Glu681=)
c.1303G= (p.Glu435=)
c.2824G= (p.Glu942=)
c.3088G= (p.Glu1030=)
c.2129-577G= (n.2129-577G=)
n.3161G=
n.3369G=
c.2578G= (p.Glu860=)
c.1603G= (p.Glu535=)
c.2317G= (p.Glu773=)
c.3295G= (p.Glu1099=)
n.3113G=
n.3321G=
1g.197435023G>TCA344046203CRB1c.3160G>T (p.Glu1054Ter)
c.2041G>T (p.Glu681Ter)
c.1303G>T (p.Glu435Ter)
c.2824G>T (p.Glu942Ter)
c.3088G>T (p.Glu1030Ter)
c.2129-577G>T (n.2129-577G>T)
n.3161G>T
n.3369G>T
c.2578G>T (p.Glu860Ter)
c.1603G>T (p.Glu535Ter)
c.2317G>T (p.Glu773Ter)
c.3295G>T (p.Glu1099Ter)
n.3113G>T
n.3321G>T
1g.197435024A=CA1218068766CRB1c.3161A= (p.Glu1054=)
c.2042A= (p.Glu681=)
c.1304A= (p.Glu435=)
c.2825A= (p.Glu942=)
c.3089A= (p.Glu1030=)
c.2129-576A= (n.2129-576A=)
n.3162A=
n.3370A=
c.2579A= (p.Glu860=)
c.1604A= (p.Glu535=)
c.2318A= (p.Glu773=)
c.3296A= (p.Glu1099=)
n.3114A=
n.3322A=
1g.197435024A>CCA344046209CRB1c.3161A>C (p.Glu1054Ala)
c.2042A>C (p.Glu681Ala)
c.1304A>C (p.Glu435Ala)
c.2825A>C (p.Glu942Ala)
c.3089A>C (p.Glu1030Ala)
c.2129-576A>C (n.2129-576A>C)
n.3162A>C
n.3370A>C
c.2579A>C (p.Glu860Ala)
c.1604A>C (p.Glu535Ala)
c.2318A>C (p.Glu773Ala)
c.3296A>C (p.Glu1099Ala)
n.3114A>C
n.3322A>C
1g.197435024A>GCA344046225CRB1c.3161A>G (p.Glu1054Gly)
c.2042A>G (p.Glu681Gly)
c.1304A>G (p.Glu435Gly)
c.2825A>G (p.Glu942Gly)
c.3089A>G (p.Glu1030Gly)
c.2129-576A>G (n.2129-576A>G)
n.3162A>G
n.3370A>G
c.2579A>G (p.Glu860Gly)
c.1604A>G (p.Glu535Gly)
c.2318A>G (p.Glu773Gly)
c.3296A>G (p.Glu1099Gly)
n.3114A>G
n.3322A>G
1g.197435024A>TCA35907081CRB1c.3161A>T (p.Glu1054Val)
c.2042A>T (p.Glu681Val)
c.1304A>T (p.Glu435Val)
c.2825A>T (p.Glu942Val)
c.3089A>T (p.Glu1030Val)
c.2129-576A>T (n.2129-576A>T)
n.3162A>T
n.3370A>T
c.2579A>T (p.Glu860Val)
c.1604A>T (p.Glu535Val)
c.2318A>T (p.Glu773Val)
c.3296A>T (p.Glu1099Val)
n.3114A>T
n.3322A>T
 dbSNP gnomAD v4
1g.197435025A>CCA344046229CRB1c.3162A>C (p.Glu1054Asp)
c.2043A>C (p.Glu681Asp)
c.1305A>C (p.Glu435Asp)
c.2826A>C (p.Glu942Asp)
c.3090A>C (p.Glu1030Asp)
c.2129-575A>C (n.2129-575A>C)
n.3163A>C
n.3371A>C
c.2580A>C (p.Glu860Asp)
c.1605A>C (p.Glu535Asp)
c.2319A>C (p.Glu773Asp)
c.3297A>C (p.Glu1099Asp)
n.3115A>C
n.3323A>C
1g.197435025A>GCA422809067CRB1c.3162A>G (p.Glu1054=)
c.2043A>G (p.Glu681=)
c.1305A>G (p.Glu435=)
c.2826A>G (p.Glu942=)
c.3090A>G (p.Glu1030=)
c.2129-575A>G (n.2129-575A>G)
n.3163A>G
n.3371A>G
c.2580A>G (p.Glu860=)
c.1605A>G (p.Glu535=)
c.2319A>G (p.Glu773=)
c.3297A>G (p.Glu1099=)
n.3115A>G
n.3323A>G
1g.197435025A>TCA344046230CRB1c.3162A>T (p.Glu1054Asp)
c.2043A>T (p.Glu681Asp)
c.1305A>T (p.Glu435Asp)
c.2826A>T (p.Glu942Asp)
c.3090A>T (p.Glu1030Asp)
c.2129-575A>T (n.2129-575A>T)
n.3163A>T
n.3371A>T
c.2580A>T (p.Glu860Asp)
c.1605A>T (p.Glu535Asp)
c.2319A>T (p.Glu773Asp)
c.3297A>T (p.Glu1099Asp)
n.3115A>T
n.3323A>T
1g.197435026G>ACA344046232CRB1c.3163G>A (p.Val1055Met)
c.2044G>A (p.Val682Met)
c.1306G>A (p.Val436Met)
c.2827G>A (p.Val943Met)
c.3091G>A (p.Val1031Met)
c.2129-574G>A (n.2129-574G>A)
n.3164G>A
n.3372G>A
c.2581G>A (p.Val861Met)
c.1606G>A (p.Val536Met)
c.2320G>A (p.Val774Met)
c.3298G>A (p.Val1100Met)
n.3116G>A
n.3324G>A
1g.197435026G>CCA344046235CRB1c.3163G>C (p.Val1055Leu)
c.2044G>C (p.Val682Leu)
c.1306G>C (p.Val436Leu)
c.2827G>C (p.Val943Leu)
c.3091G>C (p.Val1031Leu)
c.2129-574G>C (n.2129-574G>C)
n.3164G>C
n.3372G>C
c.2581G>C (p.Val861Leu)
c.1606G>C (p.Val536Leu)
c.2320G>C (p.Val774Leu)
c.3298G>C (p.Val1100Leu)
n.3116G>C
n.3324G>C
 ClinVar
1g.197435026G>TCA344046243CRB1c.3163G>T (p.Val1055Leu)
c.2044G>T (p.Val682Leu)
c.1306G>T (p.Val436Leu)
c.2827G>T (p.Val943Leu)
c.3091G>T (p.Val1031Leu)
c.2129-574G>T (n.2129-574G>T)
n.3164G>T
n.3372G>T
c.2581G>T (p.Val861Leu)
c.1606G>T (p.Val536Leu)
c.2320G>T (p.Val774Leu)
c.3298G>T (p.Val1100Leu)
n.3116G>T
n.3324G>T
1g.197435027T>ACA344046256CRB1c.3164T>A (p.Val1055Glu)
c.2045T>A (p.Val682Glu)
c.1307T>A (p.Val436Glu)
c.2828T>A (p.Val943Glu)
c.3092T>A (p.Val1031Glu)
c.2129-573T>A (n.2129-573T>A)
n.3165T>A
n.3373T>A
c.2582T>A (p.Val861Glu)
c.1607T>A (p.Val536Glu)
c.2321T>A (p.Val774Glu)
c.3299T>A (p.Val1100Glu)
n.3117T>A
n.3325T>A
 ClinVar dbSNP
1g.197435027T>CCA344046257CRB1c.3164T>C (p.Val1055Ala)
c.2045T>C (p.Val682Ala)
c.1307T>C (p.Val436Ala)
c.2828T>C (p.Val943Ala)
c.3092T>C (p.Val1031Ala)
c.2129-573T>C (n.2129-573T>C)
n.3165T>C
n.3373T>C
c.2582T>C (p.Val861Ala)
c.1607T>C (p.Val536Ala)
c.2321T>C (p.Val774Ala)
c.3299T>C (p.Val1100Ala)
n.3117T>C
n.3325T>C
1g.197435027T>GCA344046260CRB1c.3164T>G (p.Val1055Gly)
c.2045T>G (p.Val682Gly)
c.1307T>G (p.Val436Gly)
c.2828T>G (p.Val943Gly)
c.3092T>G (p.Val1031Gly)
c.2129-573T>G (n.2129-573T>G)
n.3165T>G
n.3373T>G
c.2582T>G (p.Val861Gly)
c.1607T>G (p.Val536Gly)
c.2321T>G (p.Val774Gly)
c.3299T>G (p.Val1100Gly)
n.3117T>G
n.3325T>G
1g.197435027T=CA1218068767CRB1c.3164T= (p.Val1055=)
c.2045T= (p.Val682=)
c.1307T= (p.Val436=)
c.2828T= (p.Val943=)
c.3092T= (p.Val1031=)
c.2129-573T= (n.2129-573T=)
n.3165T=
n.3373T=
c.2582T= (p.Val861=)
c.1607T= (p.Val536=)
c.2321T= (p.Val774=)
c.3299T= (p.Val1100=)
n.3117T=
n.3325T=
1g.197435028G>ACA422809073CRB1c.3165G>A (p.Val1055=)
c.2046G>A (p.Val682=)
c.1308G>A (p.Val436=)
c.2829G>A (p.Val943=)
c.3093G>A (p.Val1031=)
c.2129-572G>A (n.2129-572G>A)
n.3166G>A
n.3374G>A
c.2583G>A (p.Val861=)
c.1608G>A (p.Val536=)
c.2322G>A (p.Val774=)
c.3300G>A (p.Val1100=)
n.3118G>A
n.3326G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197435028G>CCA422809075CRB1c.3165G>C (p.Val1055=)
c.2046G>C (p.Val682=)
c.1308G>C (p.Val436=)
c.2829G>C (p.Val943=)
c.3093G>C (p.Val1031=)
c.2129-572G>C (n.2129-572G>C)
n.3166G>C
n.3374G>C
c.2583G>C (p.Val861=)
c.1608G>C (p.Val536=)
c.2322G>C (p.Val774=)
c.3300G>C (p.Val1100=)
n.3118G>C
n.3326G>C
1g.197435028G=CA1218068768CRB1c.3165G= (p.Val1055=)
c.2046G= (p.Val682=)
c.1308G= (p.Val436=)
c.2829G= (p.Val943=)
c.3093G= (p.Val1031=)
c.2129-572G= (n.2129-572G=)
n.3166G=
n.3374G=
c.2583G= (p.Val861=)
c.1608G= (p.Val536=)
c.2322G= (p.Val774=)
c.3300G= (p.Val1100=)
n.3118G=
n.3326G=
1g.197435028G>TCA422809077CRB1c.3165G>T (p.Val1055=)
c.2046G>T (p.Val682=)
c.1308G>T (p.Val436=)
c.2829G>T (p.Val943=)
c.3093G>T (p.Val1031=)
c.2129-572G>T (n.2129-572G>T)
n.3166G>T
n.3374G>T
c.2583G>T (p.Val861=)
c.1608G>T (p.Val536=)
c.2322G>T (p.Val774=)
c.3300G>T (p.Val1100=)
n.3118G>T
n.3326G>T
1g.197435029G>ACA344046264CRB1c.3166G>A (p.Asp1056Asn)
c.2047G>A (p.Asp683Asn)
c.1309G>A (p.Asp437Asn)
c.2830G>A (p.Asp944Asn)
c.3094G>A (p.Asp1032Asn)
c.2129-571G>A (n.2129-571G>A)
n.3167G>A
n.3375G>A
c.2584G>A (p.Asp862Asn)
c.1609G>A (p.Asp537Asn)
c.2323G>A (p.Asp775Asn)
c.3301G>A (p.Asp1101Asn)
n.3119G>A
n.3327G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.197435029G>CCA344046268CRB1c.3166G>C (p.Asp1056His)
c.2047G>C (p.Asp683His)
c.1309G>C (p.Asp437His)
c.2830G>C (p.Asp944His)
c.3094G>C (p.Asp1032His)
c.2129-571G>C (n.2129-571G>C)
n.3167G>C
n.3375G>C
c.2584G>C (p.Asp862His)
c.1609G>C (p.Asp537His)
c.2323G>C (p.Asp775His)
c.3301G>C (p.Asp1101His)
n.3119G>C
n.3327G>C
 ClinVar
1g.197435029G=CA1148224938CRB1c.3166G= (p.Asp1056=)
c.2047G= (p.Asp683=)
c.1309G= (p.Asp437=)
c.2830G= (p.Asp944=)
c.3094G= (p.Asp1032=)
c.2129-571G= (n.2129-571G=)
n.3167G=
n.3375G=
c.2584G= (p.Asp862=)
c.1609G= (p.Asp537=)
c.2323G= (p.Asp775=)
c.3301G= (p.Asp1101=)
n.3119G=
n.3327G=
1g.197435029G>TCA233863CRB1c.3166G>T (p.Asp1056Tyr)
c.2047G>T (p.Asp683Tyr)
c.1309G>T (p.Asp437Tyr)
c.2830G>T (p.Asp944Tyr)
c.3094G>T (p.Asp1032Tyr)
c.2129-571G>T (n.2129-571G>T)
n.3167G>T
n.3375G>T
c.2584G>T (p.Asp862Tyr)
c.1609G>T (p.Asp537Tyr)
c.2323G>T (p.Asp775Tyr)
c.3301G>T (p.Asp1101Tyr)
n.3119G>T
n.3327G>T
 ClinVar dbSNP
1g.197435030A>CCA344046282CRB1c.3167A>C (p.Asp1056Ala)
c.2048A>C (p.Asp683Ala)
c.1310A>C (p.Asp437Ala)
c.2831A>C (p.Asp944Ala)
c.3095A>C (p.Asp1032Ala)
c.2129-570A>C (n.2129-570A>C)
n.3168A>C
n.3376A>C
c.2585A>C (p.Asp862Ala)
c.1610A>C (p.Asp537Ala)
c.2324A>C (p.Asp775Ala)
c.3302A>C (p.Asp1101Ala)
n.3120A>C
n.3328A>C
 gnomAD v4
1g.197435030A>GCA344046290CRB1c.3167A>G (p.Asp1056Gly)
c.2048A>G (p.Asp683Gly)
c.1310A>G (p.Asp437Gly)
c.2831A>G (p.Asp944Gly)
c.3095A>G (p.Asp1032Gly)
c.2129-570A>G (n.2129-570A>G)
n.3168A>G
n.3376A>G
c.2585A>G (p.Asp862Gly)
c.1610A>G (p.Asp537Gly)
c.2324A>G (p.Asp775Gly)
c.3302A>G (p.Asp1101Gly)
n.3120A>G
n.3328A>G
1g.197435030A>TCA344046293CRB1c.3167A>T (p.Asp1056Val)
c.2048A>T (p.Asp683Val)
c.1310A>T (p.Asp437Val)
c.2831A>T (p.Asp944Val)
c.3095A>T (p.Asp1032Val)
c.2129-570A>T (n.2129-570A>T)
n.3168A>T
n.3376A>T
c.2585A>T (p.Asp862Val)
c.1610A>T (p.Asp537Val)
c.2324A>T (p.Asp775Val)
c.3302A>T (p.Asp1101Val)
n.3120A>T
n.3328A>T
1g.197435031C>ACA344046294CRB1c.3168C>A (p.Asp1056Glu)
c.2049C>A (p.Asp683Glu)
c.1311C>A (p.Asp437Glu)
c.2832C>A (p.Asp944Glu)
c.3096C>A (p.Asp1032Glu)
c.2129-569C>A (n.2129-569C>A)
n.3169C>A
n.3377C>A
c.2586C>A (p.Asp862Glu)
c.1611C>A (p.Asp537Glu)
c.2325C>A (p.Asp775Glu)
c.3303C>A (p.Asp1101Glu)
n.3121C>A
n.3329C>A
 gnomAD v4
1g.197435031C=CA1218068769CRB1c.3168C= (p.Asp1056=)
c.2049C= (p.Asp683=)
c.1311C= (p.Asp437=)
c.2832C= (p.Asp944=)
c.3096C= (p.Asp1032=)
c.2129-569C= (n.2129-569C=)
n.3169C=
n.3377C=
c.2586C= (p.Asp862=)
c.1611C= (p.Asp537=)
c.2325C= (p.Asp775=)
c.3303C= (p.Asp1101=)
n.3121C=
n.3329C=
1g.197435031C>GCA344046295CRB1c.3168C>G (p.Asp1056Glu)
c.2049C>G (p.Asp683Glu)
c.1311C>G (p.Asp437Glu)
c.2832C>G (p.Asp944Glu)
c.3096C>G (p.Asp1032Glu)
c.2129-569C>G (n.2129-569C>G)
n.3169C>G
n.3377C>G
c.2586C>G (p.Asp862Glu)
c.1611C>G (p.Asp537Glu)
c.2325C>G (p.Asp775Glu)
c.3303C>G (p.Asp1101Glu)
n.3121C>G
n.3329C>G
1g.197435031C>TCA422809084CRB1c.3168C>T (p.Asp1056=)
c.2049C>T (p.Asp683=)
c.1311C>T (p.Asp437=)
c.2832C>T (p.Asp944=)
c.3096C>T (p.Asp1032=)
c.2129-569C>T (n.2129-569C>T)
n.3169C>T
n.3377C>T
c.2586C>T (p.Asp862=)
c.1611C>T (p.Asp537=)
c.2325C>T (p.Asp775=)
c.3303C>T (p.Asp1101=)
n.3121C>T
n.3329C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197435032A>CCA344046299CRB1c.3169A>C (p.Asn1057His)
c.2050A>C (p.Asn684His)
c.1312A>C (p.Asn438His)
c.2833A>C (p.Asn945His)
c.3097A>C (p.Asn1033His)
c.2129-568A>C (n.2129-568A>C)
n.3170A>C
n.3378A>C
c.2587A>C (p.Asn863His)
c.1612A>C (p.Asn538His)
c.2326A>C (p.Asn776His)
c.3304A>C (p.Asn1102His)
n.3122A>C
n.3330A>C
1g.197435032A>GCA344046301CRB1c.3169A>G (p.Asn1057Asp)
c.2050A>G (p.Asn684Asp)
c.1312A>G (p.Asn438Asp)
c.2833A>G (p.Asn945Asp)
c.3097A>G (p.Asn1033Asp)
c.2129-568A>G (n.2129-568A>G)
n.3170A>G
n.3378A>G
c.2587A>G (p.Asn863Asp)
c.1612A>G (p.Asn538Asp)
c.2326A>G (p.Asn776Asp)
c.3304A>G (p.Asn1102Asp)
n.3122A>G
n.3330A>G
1g.197435032A>TCA344046306CRB1c.3169A>T (p.Asn1057Tyr)
c.2050A>T (p.Asn684Tyr)
c.1312A>T (p.Asn438Tyr)
c.2833A>T (p.Asn945Tyr)
c.3097A>T (p.Asn1033Tyr)
c.2129-568A>T (n.2129-568A>T)
n.3170A>T
n.3378A>T
c.2587A>T (p.Asn863Tyr)
c.1612A>T (p.Asn538Tyr)
c.2326A>T (p.Asn776Tyr)
c.3304A>T (p.Asn1102Tyr)
n.3122A>T
n.3330A>T
1g.197435033A=CA1218068770CRB1c.3170A= (p.Asn1057=)
c.2051A= (p.Asn684=)
c.1313A= (p.Asn438=)
c.2834A= (p.Asn945=)
c.3098A= (p.Asn1033=)
c.2129-567A= (n.2129-567A=)
n.3171A=
n.3379A=
c.2588A= (p.Asn863=)
c.1613A= (p.Asn538=)
c.2327A= (p.Asn776=)
c.3305A= (p.Asn1102=)
n.3123A=
n.3331A=
1g.197435033A>CCA344046309CRB1c.3170A>C (p.Asn1057Thr)
c.2051A>C (p.Asn684Thr)
c.1313A>C (p.Asn438Thr)
c.2834A>C (p.Asn945Thr)
c.3098A>C (p.Asn1033Thr)
c.2129-567A>C (n.2129-567A>C)
n.3171A>C
n.3379A>C
c.2588A>C (p.Asn863Thr)
c.1613A>C (p.Asn538Thr)
c.2327A>C (p.Asn776Thr)
c.3305A>C (p.Asn1102Thr)
n.3123A>C
n.3331A>C
1g.197435033A>GCA344046319CRB1c.3170A>G (p.Asn1057Ser)
c.2051A>G (p.Asn684Ser)
c.1313A>G (p.Asn438Ser)
c.2834A>G (p.Asn945Ser)
c.3098A>G (p.Asn1033Ser)
c.2129-567A>G (n.2129-567A>G)
n.3171A>G
n.3379A>G
c.2588A>G (p.Asn863Ser)
c.1613A>G (p.Asn538Ser)
c.2327A>G (p.Asn776Ser)
c.3305A>G (p.Asn1102Ser)
n.3123A>G
n.3331A>G
 dbSNP
1g.197435033A>TCA344046331CRB1c.3170A>T (p.Asn1057Ile)
c.2051A>T (p.Asn684Ile)
c.1313A>T (p.Asn438Ile)
c.2834A>T (p.Asn945Ile)
c.3098A>T (p.Asn1033Ile)
c.2129-567A>T (n.2129-567A>T)
n.3171A>T
n.3379A>T
c.2588A>T (p.Asn863Ile)
c.1613A>T (p.Asn538Ile)
c.2327A>T (p.Asn776Ile)
c.3305A>T (p.Asn1102Ile)
n.3123A>T
n.3331A>T
1g.197435034C>ACA344046335CRB1c.3171C>A (p.Asn1057Lys)
c.2052C>A (p.Asn684Lys)
c.1314C>A (p.Asn438Lys)
c.2835C>A (p.Asn945Lys)
c.3099C>A (p.Asn1033Lys)
c.2129-566C>A (n.2129-566C>A)
n.3172C>A
n.3380C>A
c.2589C>A (p.Asn863Lys)
c.1614C>A (p.Asn538Lys)
c.2328C>A (p.Asn776Lys)
c.3306C>A (p.Asn1102Lys)
n.3124C>A
n.3332C>A
1g.197435034C=CA1140762961CRB1c.3171C= (p.Asn1057=)
c.2052C= (p.Asn684=)
c.1314C= (p.Asn438=)
c.2835C= (p.Asn945=)
c.3099C= (p.Asn1033=)
c.2129-566C= (n.2129-566C=)
n.3172C=
n.3380C=
c.2589C= (p.Asn863=)
c.1614C= (p.Asn538=)
c.2328C= (p.Asn776=)
c.3306C= (p.Asn1102=)
n.3124C=
n.3332C=
1g.197435034C>GCA1312285CRB1c.3171C>G (p.Asn1057Lys)
c.2052C>G (p.Asn684Lys)
c.1314C>G (p.Asn438Lys)
c.2835C>G (p.Asn945Lys)
c.3099C>G (p.Asn1033Lys)
c.2129-566C>G (n.2129-566C>G)
n.3172C>G
n.3380C>G
c.2589C>G (p.Asn863Lys)
c.1614C>G (p.Asn538Lys)
c.2328C>G (p.Asn776Lys)
c.3306C>G (p.Asn1102Lys)
n.3124C>G
n.3332C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435034C>TCA228032CRB1c.3171C>T (p.Asn1057=)
c.2052C>T (p.Asn684=)
c.1314C>T (p.Asn438=)
c.2835C>T (p.Asn945=)
c.3099C>T (p.Asn1033=)
c.2129-566C>T (n.2129-566C>T)
n.3172C>T
n.3380C>T
c.2589C>T (p.Asn863=)
c.1614C>T (p.Asn538=)
c.2328C>T (p.Asn776=)
c.3306C>T (p.Asn1102=)
n.3124C>T
n.3332C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435035G>ACA1312286CRB1c.3172G>A (p.Glu1058Lys)
c.2053G>A (p.Glu685Lys)
c.1315G>A (p.Glu439Lys)
c.2836G>A (p.Glu946Lys)
c.3100G>A (p.Glu1034Lys)
c.2129-565G>A (n.2129-565G>A)
n.3173G>A
n.3381G>A
c.2590G>A (p.Glu864Lys)
c.1615G>A (p.Glu539Lys)
c.2329G>A (p.Glu777Lys)
c.3307G>A (p.Glu1103Lys)
n.3125G>A
n.3333G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.197435035G>CCA344046343CRB1c.3172G>C (p.Glu1058Gln)
c.2053G>C (p.Glu685Gln)
c.1315G>C (p.Glu439Gln)
c.2836G>C (p.Glu946Gln)
c.3100G>C (p.Glu1034Gln)
c.2129-565G>C (n.2129-565G>C)
n.3173G>C
n.3381G>C
c.2590G>C (p.Glu864Gln)
c.1615G>C (p.Glu539Gln)
c.2329G>C (p.Glu777Gln)
c.3307G>C (p.Glu1103Gln)
n.3125G>C
n.3333G>C
1g.197435035G=CA1147092687CRB1c.3172G= (p.Glu1058=)
c.2053G= (p.Glu685=)
c.1315G= (p.Glu439=)
c.2836G= (p.Glu946=)
c.3100G= (p.Glu1034=)
c.2129-565G= (n.2129-565G=)
n.3173G=
n.3381G=
c.2590G= (p.Glu864=)
c.1615G= (p.Glu539=)
c.2329G= (p.Glu777=)
c.3307G= (p.Glu1103=)
n.3125G=
n.3333G=
1g.197435035G>TCA344046346CRB1c.3172G>T (p.Glu1058Ter)
c.2053G>T (p.Glu685Ter)
c.1315G>T (p.Glu439Ter)
c.2836G>T (p.Glu946Ter)
c.3100G>T (p.Glu1034Ter)
c.2129-565G>T (n.2129-565G>T)
n.3173G>T
n.3381G>T
c.2590G>T (p.Glu864Ter)
c.1615G>T (p.Glu539Ter)
c.2329G>T (p.Glu777Ter)
c.3307G>T (p.Glu1103Ter)
n.3125G>T
n.3333G>T
 ClinVar dbSNP
1g.197435036A=CA1144353962CRB1c.3173A= (p.Glu1058=)
c.2054A= (p.Glu685=)
c.1316A= (p.Glu439=)
c.2837A= (p.Glu946=)
c.3101A= (p.Glu1034=)
c.2129-564A= (n.2129-564A=)
n.3174A=
n.3382A=
c.2591A= (p.Glu864=)
c.1616A= (p.Glu539=)
c.2330A= (p.Glu777=)
c.3308A= (p.Glu1103=)
n.3126A=
n.3334A=
1g.197435036A>CCA344046364CRB1c.3173A>C (p.Glu1058Ala)
c.2054A>C (p.Glu685Ala)
c.1316A>C (p.Glu439Ala)
c.2837A>C (p.Glu946Ala)
c.3101A>C (p.Glu1034Ala)
c.2129-564A>C (n.2129-564A>C)
n.3174A>C
n.3382A>C
c.2591A>C (p.Glu864Ala)
c.1616A>C (p.Glu539Ala)
c.2330A>C (p.Glu777Ala)
c.3308A>C (p.Glu1103Ala)
n.3126A>C
n.3334A>C
 gnomAD v4
1g.197435036A>GCA35907090CRB1c.3173A>G (p.Glu1058Gly)
c.2054A>G (p.Glu685Gly)
c.1316A>G (p.Glu439Gly)
c.2837A>G (p.Glu946Gly)
c.3101A>G (p.Glu1034Gly)
c.2129-564A>G (n.2129-564A>G)
n.3174A>G
n.3382A>G
c.2591A>G (p.Glu864Gly)
c.1616A>G (p.Glu539Gly)
c.2330A>G (p.Glu777Gly)
c.3308A>G (p.Glu1103Gly)
n.3126A>G
n.3334A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197435036A>TCA344046369CRB1c.3173A>T (p.Glu1058Val)
c.2054A>T (p.Glu685Val)
c.1316A>T (p.Glu439Val)
c.2837A>T (p.Glu946Val)
c.3101A>T (p.Glu1034Val)
c.2129-564A>T (n.2129-564A>T)
n.3174A>T
n.3382A>T
c.2591A>T (p.Glu864Val)
c.1616A>T (p.Glu539Val)
c.2330A>T (p.Glu777Val)
c.3308A>T (p.Glu1103Val)
n.3126A>T
n.3334A>T
 dbSNP

Number of alleles fetched