Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.48303906_48303969del | CA2622977277 | RB1 | c.-7_57del n.156_219del | gnomAD v4 |
13 | g.48303936_48303973del | CA2697551898 | RB1 | c.24_61del (p.Lys8AsnfsTer10) n.186_223del | ClinVar |
13 | g.48303946_48303963del | CA2580087714 | RB1 | c.34_51del (p.Thr12_Ala17del) n.196_213del | ClinVar |
13 | g.48303940_48303972delinsGCCGCCACCGCCGCCGCTGCCGCCGCGGAACCC | CA2089949899 | RB1 | c.28_60delinsGCCGCCACCGCCGCCGCTGCCGCCGCGGAACCC (p.Ala10=) n.190_222delinsGCCGCCACCGCCGCCGCTGCCGCCGCGGAACCC | |
13 | g.48303946_48303986del | CA2831039826 | RB1 | c.34_74del (p.Thr12AlafsTer5) n.196_236del | |
13 | g.48303944_48303975del | CA915948544 | RB1 | c.32_63del (p.Ala11GlyfsTer9) n.194_225del | ClinVar dbSNP |
13 | g.48303946_48303983del | CA2573149540 | RB1 | c.34_71del (p.Thr12AlafsTer6) n.196_233del | ClinVar dbSNP |
13 | g.48303945_48303977del | CA2622977300 | RB1 | c.33_65del (p.Thr12_Ala22del) n.195_227del | gnomAD v4 |
13 | g.48303944_48303976delinsCCACCGCCGCCGCTGCCGCCGCGGAACCCCCGG | CA2089949929 | RB1 | c.32_64delinsCCACCGCCGCCGCTGCCGCCGCGGAACCCCCGG (p.Ala11=) n.194_226delinsCCACCGCCGCCGCTGCCGCCGCGGAACCCCCGG | |
13 | g.48303957_48303988del | CA915948545 | RB1 | c.45_76del (p.Ala17ProfsTer3) n.207_238del | ClinVar dbSNP gnomAD v4 |
13 | g.48303947_48303976delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGG | CA2089949954 | RB1 | c.35_64delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGG (p.Thr12=) n.197_226delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGG | |
13 | g.48303957_48303991del | CA2573149541 | RB1 | c.45_79del (p.Ala16ProfsTer3) n.207_241del | ClinVar dbSNP gnomAD v4 |
13 | g.48303955_48303992dup | CA2695199743 | RB1 | c.43_80dup (p.Pro28LeufsTer?) n.205_242dup | ClinVar |
13 | g.48303955_48303992del | CA2499222421 | RB1 | c.43_80del (p.Ala15ProfsTer3) n.205_242del | ClinVar dbSNP gnomAD v4 |
13 | g.48303949_48303977del | CA16614430 | RB1 | c.37_65del (p.Ala13ThrfsTer8) n.199_227del | ClinVar dbSNP |
13 | g.48303957_48303965dup | CA2089949978 | RB1 | c.45_53dup (p.Ala18_Glu19insAlaAlaAla) n.207_215dup | ClinVar dbSNP gnomAD v4 |
13 | g.48303957_48303965del | CA026451 | RB1 | c.45_53del (p.Ala16_Ala18del) n.207_215del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48303957_48303985del | CA2622977301 | RB1 | c.45_73del (p.Ala18ProfsTer3) n.207_235del | gnomAD v4 |
13 | g.48303957_48303962dup | CA609859316 | RB1 | c.45_50dup (p.Ala17_Ala18insAlaAla) n.207_212dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48303957_48303962del | CA2580614814 | RB1 | c.45_50del (p.Ala16_Ala17del) n.207_212del | ClinVar |
13 | g.48303957_48303982dup | CA891844034 | RB1 | c.45_70dup (p.Pro24LeufsTer?) n.207_232dup | ClinVar dbSNP |
13 | g.48303957_48303982del | CA2622977302 | RB1 | c.45_70del (p.Glu19ProfsTer3) n.207_232del | gnomAD v4 |
13 | g.48303955_48303977dup | CA256714 | RB1 | c.43_65dup (p.Pro23LeufsTer?) n.205_227dup | ClinVar dbSNP |
13 | g.48303957_48303983delinsTGCCGCCGCGGAACCCCCGGCACCGCC | CA2089950036 | RB1 | c.45_71delinsTGCCGCCGCGGAACCCCCGGCACCGCC (p.Ala15=) n.207_233delinsTGCCGCCGCGGAACCCCCGGCACCGCC | |
13 | g.48303960_48303965dup | CA2825002178 | RB1 | c.48_53dup (p.Ala18_Glu19insAlaAla) n.210_215dup | ClinVar |
13 | g.48303963_48303965del | CA916081686 | RB1 | c.51_53del (p.Ala18del) n.213_215del | ClinVar dbSNP |
13 | g.48303960_48303965del | CA2622977303 | RB1 | c.48_53del (p.Ala17_Ala18del) n.210_215del | gnomAD v4 |
13 | g.48303973_48303974insAGGCACCGCCGCCGCCGCCGCCGCGGAACCCC | CA2580614815 | RB1 | c.61_62insAGGCACCGCCGCCGCCGCCGCCGCGGAACCCC (p.Pro21GlnfsTer?) n.223_224insAGGCACCGCCGCCGCCGCCGCCGCGGAACCCC | dbSNP |
13 | g.48303958_48303977del | CA2831039827 | RB1 | c.46_65del (p.Ala16ThrfsTer8) n.208_227del | |
13 | g.48303958_48303977dup | CA2695218215 | RB1 | c.46_65dup (p.Pro25ArgfsTer?) n.208_227dup | |
13 | g.48303966_48303988dup | CA645369601 | RB1 | c.54_76dup (p.Pro26ArgfsTer?) n.216_238dup | ClinVar dbSNP |
13 | g.48303966_48303988del | CA2622977304 | RB1 | c.54_76del (p.Glu19AlafsTer4) n.216_238del | gnomAD v4 |
13 | g.48303966_48303991dup | CA2580087721 | RB1 | c.54_79dup (p.Pro27ArgfsTer?) n.216_241dup | ClinVar |
13 | g.48303966_48303991del | CA026461 | RB1 | c.54_79del (p.Glu19ProfsTer3) n.216_241del | ClinVar dbSNP gnomAD v4 |
13 | g.48303961_48303992dup | CA2697551899 | RB1 | c.49_80dup (p.Pro29ArgfsTer?) n.211_242dup | ClinVar |
13 | g.48303964_48303992del | CA2622977305 | RB1 | c.52_80del (p.Ala18ProfsTer3) n.214_242del | gnomAD v4 |
13 | g.48303961_48303992del | CA2622977306 | RB1 | c.49_80del (p.Ala17ProfsTer3) n.211_242del | gnomAD v4 |
13 | g.48303968_48303969insCCCCCGGCACCGCCGCGGA | CA2695218216 | RB1 | c.56_57insCCCCCGGCACCGCCGCGGA (p.Glu19AspfsTer18) n.218_219insCCCCCGGCACCGCCGCGGA | |
13 | g.48303966_48303985dup | CA658658234 | RB1 | c.54_73dup (p.Pro25ArgfsTer?) n.216_235dup | ClinVar dbSNP |
13 | g.48303962C>A | CA388250225 | RB1 | c.50C>A (p.Ala17Asp) n.212C>A | gnomAD v4 |
13 | g.48303962C= | CA2089950064 | RB1 | c.50C= (p.Ala17=) n.212C= | |
13 | g.48303962C>G | CA388250227 | RB1 | c.50C>G (p.Ala17Gly) n.212C>G | |
13 | g.48303962C>T | CA388250226 | RB1 | c.50C>T (p.Ala17Val) n.212C>T | ClinVar dbSNP gnomAD v4 |
13 | g.48303963C>A | CA483711604 | RB1 | c.51C>A (p.Ala17=) n.213C>A | dbSNP |
13 | g.48303963C= | CA2089950069 | RB1 | c.51C= (p.Ala17=) n.213C= | |
13 | g.48303963C>G | CA483711603 | RB1 | c.51C>G (p.Ala17=) n.213C>G | ClinVar dbSNP gnomAD v4 |
13 | g.48303963C>T | CA483711602 | RB1 | c.51C>T (p.Ala17=) n.213C>T | ClinVar |
13 | g.48303964G>A | CA388250228 | RB1 | c.52G>A (p.Ala18Thr) n.214G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.48303964G>C | CA388250229 | RB1 | c.52G>C (p.Ala18Pro) n.214G>C | dbSNP |
13 | g.48303964G= | CA2089950080 | RB1 | c.52G= (p.Ala18=) n.214G= | |
13 | g.48303964G>T | CA038529 | RB1 | c.52G>T (p.Ala18Ser) n.214G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48303965C>A | CA388250230 | RB1 | c.53C>A (p.Ala18Glu) n.215C>A | gnomAD v4 |
13 | g.48303965C>G | CA388250231 | RB1 | c.53C>G (p.Ala18Gly) n.215C>G | |
13 | g.48303965C>T | CA388250232 | RB1 | c.53C>T (p.Ala18Val) n.215C>T | gnomAD v4 |
13 | g.48303966G>A | CA483711605 | RB1 | c.54G>A (p.Ala18=) n.216G>A | dbSNP gnomAD v4 |
13 | g.48303966G>C | CA483711606 | RB1 | c.54G>C (p.Ala18=) n.216G>C | dbSNP |
13 | g.48303966G>T | CA483711607 | RB1 | c.54G>T (p.Ala18=) n.216G>T | gnomAD v4 |
13 | g.48303967del | CA2695218217 | RB1 | c.55del (p.Glu19AsnfsTer?) n.217del | |
13 | g.48303967G>A | CA388250233 | RB1 | c.55G>A (p.Glu19Lys) n.217G>A | dbSNP gnomAD v4 |
13 | g.48303967G>C | CA388250234 | RB1 | c.55G>C (p.Glu19Gln) n.217G>C | dbSNP |
13 | g.48303967G>T | CA388250235 | RB1 | c.55G>T (p.Glu19Ter) n.217G>T | ClinVar gnomAD v4 |
13 | g.48303968_48303987dup | CA2580087723 | RB1 | c.56_75dup (p.Pro26AsnfsTer?) n.218_237dup | ClinVar |
13 | g.48303968A>C | CA388250236 | RB1 | c.56A>C (p.Glu19Ala) n.218A>C | dbSNP |
13 | g.48303968A>G | CA388250238 | RB1 | c.56A>G (p.Glu19Gly) n.218A>G | dbSNP |
13 | g.48303968A>T | CA388250237 | RB1 | c.56A>T (p.Glu19Val) n.218A>T | ClinVar |
13 | g.48303969A= | CA2089950083 | RB1 | c.57A= (p.Glu19=) n.219A= | |
13 | g.48303969A>C | CA249842027 | RB1 | c.57A>C (p.Glu19Asp) n.219A>C | dbSNP |
13 | g.48303969A>G | CA483711608 | RB1 | c.57A>G (p.Glu19=) n.219A>G | ClinVar gnomAD v4 |
13 | g.48303969A>T | CA388250239 | RB1 | c.57A>T (p.Glu19Asp) n.219A>T | |
13 | g.48303969_48303970delinsAC | CA2089950085 | RB1 | c.57_58delinsAC (p.Glu19=) n.219_220delinsAC | |
13 | g.48303969_48303982delinsACCCCCGGCACCGC | CA2089950087 | RB1 | c.57_70delinsACCCCCGGCACCGC (p.Glu19=) n.219_232delinsACCCCCGGCACCGC | |
13 | g.48303970C>A | CA388250240 | RB1 | c.58C>A (p.Pro20Thr) n.220C>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.48303970C= | CA2089950096 | RB1 | c.58C= (p.Pro20=) n.220C= | |
13 | g.48303970C>G | CA388250241 | RB1 | c.58C>G (p.Pro20Ala) n.220C>G | |
13 | g.48303970C>T | CA388250242 | RB1 | c.58C>T (p.Pro20Ser) n.220C>T | ClinVar dbSNP gnomAD v4 |
13 | g.48303974dup | CA2499222422 | RB1 | c.62dup (p.Ala22GlyfsTer9) n.224dup | ClinVar dbSNP gnomAD v4 |
13 | g.48303974del | CA609859321 | RB1 | c.62del (p.Pro21ArgfsTer?) n.224del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48303971_48303983del | CA1139663283 | RB1 | c.59_71del (p.Pro20ArgfsTer?) n.221_233del | ClinVar dbSNP |
13 | g.48303971C>A | CA388250243 | RB1 | c.59C>A (p.Pro20His) n.221C>A | gnomAD v4 |
13 | g.48303971C= | CA2089950102 | RB1 | c.59C= (p.Pro20=) n.221C= | |
13 | g.48303971C>G | CA388250244 | RB1 | c.59C>G (p.Pro20Arg) n.221C>G | |
13 | g.48303971C>T | CA026462 | RB1 | c.59C>T (p.Pro20Leu) n.221C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48303972C>A | CA483711611 | RB1 | c.60C>A (p.Pro20=) n.222C>A | ClinVar dbSNP gnomAD v4 |
13 | g.48303972C= | CA2089950107 | RB1 | c.60C= (p.Pro20=) n.222C= | |
13 | g.48303972C>G | CA483711610 | RB1 | c.60C>G (p.Pro20=) n.222C>G | ClinVar dbSNP gnomAD v4 |
13 | g.48303972C>T | CA039113 | RB1 | c.60C>T (p.Pro20=) n.222C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48303973C>A | CA388250245 | RB1 | c.61C>A (p.Pro21Thr) n.223C>A | gnomAD v4 |
13 | g.48303973C>G | CA388250246 | RB1 | c.61C>G (p.Pro21Ala) n.223C>G | gnomAD v4 |
13 | g.48303973C>T | CA388250247 | RB1 | c.61C>T (p.Pro21Ser) n.223C>T | dbSNP |
13 | g.48303974C>A | CA388250248 | RB1 | c.62C>A (p.Pro21Gln) n.224C>A | dbSNP |
13 | g.48303974C= | CA2089950113 | RB1 | c.62C= (p.Pro21=) n.224C= | |
13 | g.48303974C>G | CA388250250 | RB1 | c.62C>G (p.Pro21Arg) n.224C>G | ClinVar dbSNP gnomAD v4 |
13 | g.48303974C>T | CA388250249 | RB1 | c.62C>T (p.Pro21Leu) n.224C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48303975G>A | CA483711614 | RB1 | c.63G>A (p.Pro21=) n.225G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.48303975G>C | CA483711613 | RB1 | c.63G>C (p.Pro21=) n.225G>C | ClinVar dbSNP |
13 | g.48303975G= | CA2089950120 | RB1 | c.63G= (p.Pro21=) n.225G= | |
13 | g.48303975G>T | CA483711612 | RB1 | c.63G>T (p.Pro21=) n.225G>T | dbSNP gnomAD v4 |
13 | g.48303976dup | CA249842028 | RB1 | c.64dup (p.Ala22GlyfsTer9) n.226dup | dbSNP |
13 | g.48303976G>A | CA388250251 | RB1 | c.64G>A (p.Ala22Thr) n.226G>A | dbSNP gnomAD v4 |
13 | g.48303976G>C | CA388250252 | RB1 | c.64G>C (p.Ala22Pro) n.226G>C | |
13 | g.48303976G>T | CA388250253 | RB1 | c.64G>T (p.Ala22Ser) n.226G>T | gnomAD v4 |
13 | g.48303976_48303979delinsGCAC | CA2089950123 | RB1 | c.64_67delinsGCAC (p.Ala22=) n.226_229delinsGCAC | |
13 | g.48303977del | CA2695218218 | RB1 | c.65del (p.Ala22AspfsTer?) n.227del | |
13 | g.48303977C>A | CA388250254 | RB1 | c.65C>A (p.Ala22Glu) n.227C>A | dbSNP gnomAD v4 |
13 | g.48303977C>G | CA388250255 | RB1 | c.65C>G (p.Ala22Gly) n.227C>G | |
13 | g.48303977C>T | CA388250256 | RB1 | c.65C>T (p.Ala22Val) n.227C>T | dbSNP gnomAD v4 |
13 | g.48303978_48303980del | CA609859325 | RB1 | c.66_68del (p.Pro23del) n.228_230del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48303978A= | CA2089950135 | RB1 | c.66A= (p.Ala22=) n.228A= | |
13 | g.48303978A>C | CA16614436 | RB1 | c.66A>C (p.Ala22=) n.228A>C | ClinVar dbSNP gnomAD v4 |
13 | g.48303978A>G | CA16614283 | RB1 | c.66A>G (p.Ala22=) n.228A>G | ClinVar dbSNP gnomAD v4 |
13 | g.48303978A>T | CA483711615 | RB1 | c.66A>T (p.Ala22=) n.228A>T | ClinVar |
13 | g.48303978_48303981delinsACCG | CA2089950133 | RB1 | c.66_69delinsACCG (p.Ala22=) n.228_231delinsACCG | |
13 | g.48303979C>A | CA388250259 | RB1 | c.67C>A (p.Pro23Thr) n.229C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48303979C= | CA2089950163 | RB1 | c.67C= (p.Pro23=) n.229C= | |
13 | g.48303979C>G | CA388250257 | RB1 | c.67C>G (p.Pro23Ala) n.229C>G | gnomAD v4 |
13 | g.48303979C>T | CA388250258 | RB1 | c.67C>T (p.Pro23Ser) n.229C>T | ClinVar dbSNP gnomAD v4 |
13 | g.48303990_48303992dup | CA6978876 | RB1 | c.78_80dup (p.Pro27_Pro28insPro) n.240_242dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48303987_48303992dup | CA915948546 | RB1 | c.75_80dup (p.Pro27_Pro28insProPro) n.237_242dup | ClinVar dbSNP |
13 | g.48303990_48303992del | CA026465 | RB1 | c.78_80del (p.Pro27del) n.240_242del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48303987_48303992del | CA2695218219 | RB1 | c.75_80del (p.Pro26_Pro27del) n.237_242del | |
13 | g.48303980C>A | CA388250262 | RB1 | c.68C>A (p.Pro23Gln) n.230C>A | ClinVar dbSNP gnomAD v4 |
13 | g.48303980C= | CA2089950173 | RB1 | c.68C= (p.Pro23=) n.230C= | |
13 | g.48303980C>G | CA388250260 | RB1 | c.68C>G (p.Pro23Arg) n.230C>G | ClinVar |
13 | g.48303980C>T | CA388250261 | RB1 | c.68C>T (p.Pro23Leu) n.230C>T | ClinVar dbSNP gnomAD v4 |
13 | g.48303981G>A | CA483711616 | RB1 | c.69G>A (p.Pro23=) n.231G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48303981G>C | CA039263 | RB1 | c.69G>C (p.Pro23=) n.231G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48303981G= | CA2089950177 | RB1 | c.69G= (p.Pro23=) n.231G= | |
13 | g.48303981G>T | CA483711617 | RB1 | c.69G>T (p.Pro23=) n.231G>T | gnomAD v4 |
13 | g.48303982C>A | CA388250265 | RB1 | c.70C>A (p.Pro24Thr) n.232C>A | dbSNP gnomAD v4 |
13 | g.48303982C= | CA2089950182 | RB1 | c.70C= (p.Pro24=) n.232C= | |
13 | g.48303982C>G | CA388250263 | RB1 | c.70C>G (p.Pro24Ala) n.232C>G | gnomAD v4 |
13 | g.48303982C>T | CA388250264 | RB1 | c.70C>T (p.Pro24Ser) n.232C>T | dbSNP gnomAD v3 gnomAD v4 |
13 | g.48303983C>A | CA388250266 | RB1 | c.71C>A (p.Pro24Gln) n.233C>A | ClinVar gnomAD v4 |
13 | g.48303983C= | CA2089950185 | RB1 | c.71C= (p.Pro24=) n.233C= | |
13 | g.48303983C>G | CA388250267 | RB1 | c.71C>G (p.Pro24Arg) n.233C>G | gnomAD v4 |
13 | g.48303983C>T | CA388250268 | RB1 | c.71C>T (p.Pro24Leu) n.233C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48303984G>A | CA483711618 | RB1 | c.72G>A (p.Pro24=) n.234G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.48303984G>C | CA483711619 | RB1 | c.72G>C (p.Pro24=) n.234G>C | ClinVar dbSNP gnomAD v4 |
13 | g.48303984G= | CA2089950188 | RB1 | c.72G= (p.Pro24=) n.234G= | |
13 | g.48303984G>T | CA483711620 | RB1 | c.72G>T (p.Pro24=) n.234G>T | gnomAD v4 |
13 | g.48303985C>A | CA388250269 | RB1 | c.73C>A (p.Pro25Thr) n.235C>A | ClinVar gnomAD v4 |
13 | g.48303985C= | CA2089950192 | RB1 | c.73C= (p.Pro25=) n.235C= | |
13 | g.48303985C>G | CA388250270 | RB1 | c.73C>G (p.Pro25Ala) n.235C>G | |
13 | g.48303985C>T | CA388250271 | RB1 | c.73C>T (p.Pro25Ser) n.235C>T | ClinVar dbSNP gnomAD v4 |
13 | g.48303986C>A | CA388250272 | RB1 | c.74C>A (p.Pro25Gln) n.236C>A | gnomAD v4 |
13 | g.48303986C= | CA2089950197 | RB1 | c.74C= (p.Pro25=) n.236C= | |
13 | g.48303986C>G | CA388250273 | RB1 | c.74C>G (p.Pro25Arg) n.236C>G | dbSNP gnomAD v4 |
13 | g.48303986C>T | CA388250274 | RB1 | c.74C>T (p.Pro25Leu) n.236C>T | ClinVar dbSNP gnomAD v4 |
13 | g.48303987_48303988del | CA2799116855 | RB1 | c.75_76del (p.Pro26AlafsTer4) n.237_238del | |
13 | g.48303987G>A | CA483711622 | RB1 | c.75G>A (p.Pro25=) n.237G>A | ClinVar dbSNP gnomAD v4 |
13 | g.48303987G>C | CA483711623 | RB1 | c.75G>C (p.Pro25=) n.237G>C | dbSNP |
13 | g.48303987G= | CA2089950201 | RB1 | c.75G= (p.Pro25=) n.237G= | |
13 | g.48303987G>T | CA483711621 | RB1 | c.75G>T (p.Pro25=) n.237G>T | ClinVar dbSNP gnomAD v4 |
13 | g.48303988C>A | CA388250277 | RB1 | c.76C>A (p.Pro26Thr) n.238C>A | gnomAD v4 |
13 | g.48303988C>G | CA388250276 | RB1 | c.76C>G (p.Pro26Ala) n.238C>G | dbSNP |
13 | g.48303988C>T | CA388250275 | RB1 | c.76C>T (p.Pro26Ser) n.238C>T | ClinVar dbSNP gnomAD v4 |
13 | g.48303988_48303989del | CA2622977307 | RB1 | c.76_77del (p.Pro26AlafsTer4) n.238_239del | gnomAD v4 |
13 | g.48303988_48303990delinsCCG | CA2089950208 | RB1 | c.76_78delinsCCG (p.Pro26=) n.238_240delinsCCG | |
13 | g.48303990_48303995dup | CA658798151 | RB1 | c.78_83dup (p.Pro28_Pro29insProPro) n.240_245dup | ClinVar dbSNP gnomAD v4 |
13 | g.48303989C>A | CA388250278 | RB1 | c.77C>A (p.Pro26Gln) n.239C>A | gnomAD v4 |
13 | g.48303989C= | CA2089950214 | RB1 | c.77C= (p.Pro26=) n.239C= | |
13 | g.48303989C>G | CA388250279 | RB1 | c.77C>G (p.Pro26Arg) n.239C>G | |
13 | g.48303989C>T | CA039485 | RB1 | c.77C>T (p.Pro26Leu) n.239C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.48303990_48303991del | CA609859328 | RB1 | c.78_79del (p.Pro28SerfsTer2) n.240_241del | dbSNP gnomAD v2 gnomAD v4 |
13 | g.48303990del | CA2622977308 | RB1 | c.78del (p.Pro28LeufsTer?) n.240del | gnomAD v4 |
13 | g.48303990G>A | CA483711626 | RB1 | c.78G>A (p.Pro26=) n.240G>A | gnomAD v4 |
13 | g.48303990G>C | CA483711624 | RB1 | c.78G>C (p.Pro26=) n.240G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.48303990G= | CA2089950218 | RB1 | c.78G= (p.Pro26=) n.240G= | |
13 | g.48303990G>T | CA483711625 | RB1 | c.78G>T (p.Pro26=) n.240G>T | ClinVar dbSNP gnomAD v4 |
13 | g.48303990_48303991delinsGC | CA2089950217 | RB1 | c.78_79delinsGC (p.Pro26=) n.240_241delinsGC | |
13 | g.48303991C>A | CA388250280 | RB1 | c.79C>A (p.Pro27Thr) n.241C>A | |
13 | g.48303991C= | CA2089950222 | RB1 | c.79C= (p.Pro27=) n.241C= | |
13 | g.48303991C>G | CA388250281 | RB1 | c.79C>G (p.Pro27Ala) n.241C>G | dbSNP |
13 | g.48303991C>T | CA388250282 | RB1 | c.79C>T (p.Pro27Ser) n.241C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48303995dup | CA2622977309 | RB1 | c.83dup (p.Pro29SerfsTer2) n.245dup | gnomAD v4 |
13 | g.48303994_48303995dup | CA2695218220 | RB1 | c.82_83dup (p.Pro29LeufsTer?) n.244_245dup | |
13 | g.48303995del | CA609859331 | RB1 | c.83del (p.Pro28LeufsTer?) n.245del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48303992C>A | CA388250283 | RB1 | c.80C>A (p.Pro27His) n.242C>A | dbSNP gnomAD v4 |
13 | g.48303992C= | CA2089950228 | RB1 | c.80C= (p.Pro27=) n.242C= | |
13 | g.48303992C>G | CA249842029 | RB1 | c.80C>G (p.Pro27Arg) n.242C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48303992C>T | CA388250284 | RB1 | c.80C>T (p.Pro27Leu) n.242C>T | ClinVar gnomAD v4 |
13 | g.48303993C>A | CA483711627 | RB1 | c.81C>A (p.Pro27=) n.243C>A | ClinVar dbSNP gnomAD v4 |
13 | g.48303993C= | CA2089950236 | RB1 | c.81C= (p.Pro27=) n.243C= | |
13 | g.48303993C>G | CA483711629 | RB1 | c.81C>G (p.Pro27=) n.243C>G | ClinVar dbSNP |
13 | g.48303993C>T | CA483711628 | RB1 | c.81C>T (p.Pro27=) n.243C>T | ClinVar dbSNP gnomAD v4 |
13 | g.48303994C>A | CA388250285 | RB1 | c.82C>A (p.Pro28Thr) n.244C>A | ClinVar dbSNP gnomAD v4 |
13 | g.48303994C= | CA2089950238 | RB1 | c.82C= (p.Pro28=) n.244C= | |
13 | g.48303994C>G | CA388250286 | RB1 | c.82C>G (p.Pro28Ala) n.244C>G | |
13 | g.48303994C>T | CA249842030 | RB1 | c.82C>T (p.Pro28Ser) n.244C>T | ClinVar dbSNP gnomAD v4 |
13 | g.48303995C>A | CA388250288 | RB1 | c.83C>A (p.Pro28His) n.245C>A | dbSNP gnomAD v4 |
13 | g.48303995C= | CA2089950241 | RB1 | c.83C= (p.Pro28=) n.245C= | |
13 | g.48303995C>G | CA039558 | RB1 | c.83C>G (p.Pro28Arg) n.245C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48303995C>T | CA388250287 | RB1 | c.83C>T (p.Pro28Leu) n.245C>T | ClinVar dbSNP gnomAD v4 |
13 | g.48303996del | CA2695218221 | RB1 | c.84del (p.Pro29LeufsTer?) n.246del | |
13 | g.48303996T>A | CA483711630 | RB1 | c.84T>A (p.Pro28=) n.246T>A | ClinVar |
13 | g.48303996T>C | CA483711631 | RB1 | c.84T>C (p.Pro28=) n.246T>C | gnomAD v4 |
13 | g.48303996T>G | CA483711632 | RB1 | c.84T>G (p.Pro28=) n.246T>G | |
13 | g.48303996dup | CA2695218222 | RB1 | c.84dup (p.Pro29SerfsTer2) n.246dup | |
13 | g.48303997C>A | CA388250289 | RB1 | c.85C>A (p.Pro29Thr) n.247C>A | gnomAD v4 |
13 | g.48303997C>G | CA388250291 | RB1 | c.85C>G (p.Pro29Ala) n.247C>G | dbSNP |
13 | g.48303997C>T | CA388250290 | RB1 | c.85C>T (p.Pro29Ser) n.247C>T | |
13 | g.48303998dup | CA2695218223 | RB1 | c.86dup (p.Glu30Ter) n.248dup | |
13 | g.48303998C>A | CA388250292 | RB1 | c.86C>A (p.Pro29His) n.248C>A | gnomAD v4 COSMIC COSMIC |
13 | g.48303998C= | CA2089950249 | RB1 | c.86C= (p.Pro29=) n.248C= | |
13 | g.48303998C>G | CA388250293 | RB1 | c.86C>G (p.Pro29Arg) n.248C>G | dbSNP |
13 | g.48303998C>T | CA249842031 | RB1 | c.86C>T (p.Pro29Leu) n.248C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48303999del | CA2622977310 | RB1 | c.87del (p.Glu30ArgfsTer?) n.249del | gnomAD v4 |
13 | g.48303999T>A | CA483711633 | RB1 | c.87T>A (p.Pro29=) n.249T>A | gnomAD v4 |
13 | g.48303999T>C | CA483711634 | RB1 | c.87T>C (p.Pro29=) n.249T>C | gnomAD v4 |
13 | g.48303999T>G | CA483711635 | RB1 | c.87T>G (p.Pro29=) n.249T>G | gnomAD v4 |
13 | g.48304000del | CA2622977311 | RB1 | c.88del (p.Glu30ArgfsTer?) n.250del | gnomAD v4 |
13 | g.48304000G>A | CA388250294 | RB1 | c.88G>A (p.Glu30Lys) n.250G>A | dbSNP gnomAD v4 |
13 | g.48304000G>C | CA388250295 | RB1 | c.88G>C (p.Glu30Gln) n.250G>C | ClinVar dbSNP |
13 | g.48304000G= | CA2089950257 | RB1 | c.88G= (p.Glu30=) n.250G= | |
13 | g.48304000G>T | CA388250296 | RB1 | c.88G>T (p.Glu30Ter) n.250G>T | dbSNP gnomAD v4 |
13 | g.48304001A= | CA2089950261 | RB1 | c.89A= (p.Glu30=) n.251A= | |
13 | g.48304001A>C | CA388250297 | RB1 | c.89A>C (p.Glu30Ala) n.251A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48304001A>G | CA388250298 | RB1 | c.89A>G (p.Glu30Gly) n.251A>G | |
13 | g.48304001A>T | CA388250299 | RB1 | c.89A>T (p.Glu30Val) n.251A>T | dbSNP |
13 | g.48304002G>A | CA483711636 | RB1 | c.90G>A (p.Glu30=) n.252G>A | gnomAD v4 |
13 | g.48304002G>C | CA388250300 | RB1 | c.90G>C (p.Glu30Asp) n.252G>C | dbSNP |
13 | g.48304002G>T | CA388250301 | RB1 | c.90G>T (p.Glu30Asp) n.252G>T | gnomAD v4 |
13 | g.48304003del | CA2695218224 | RB1 | c.91del (p.Glu31ArgfsTer?) n.253del | |
13 | g.48304010_48304036dup | CA2825002179 | RB1 | c.98_124dup (p.Asp41_Leu42insProGluGlnAspSerGlyProGluAsp) n.260_286dup | ClinVar |
13 | g.48304003G>A | CA388250304 | RB1 | c.91G>A (p.Glu31Lys) n.253G>A | gnomAD v4 |
13 | g.48304003G>C | CA388250303 | RB1 | c.91G>C (p.Glu31Gln) n.253G>C | dbSNP COSMIC COSMIC |
13 | g.48304003G= | CA2089950265 | RB1 | c.91G= (p.Glu31=) n.253G= | |
13 | g.48304003G>T | CA388250302 | RB1 | c.91G>T (p.Glu31Ter) n.253G>T | gnomAD v4 |
13 | g.48304004_48304005del | CA2695218225 | RB1 | c.92_93del (p.Glu31GlyfsTer17) c.92_93del (p.Glu31GlyfsTer26) n.254_255del | |
13 | g.48304004A>C | CA388250305 | RB1 | c.92A>C (p.Glu31Ala) n.254A>C | gnomAD v4 |
13 | g.48304004A>G | CA388250306 | RB1 | c.92A>G (p.Glu31Gly) n.254A>G | dbSNP gnomAD v4 |
13 | g.48304004A>T | CA388250307 | RB1 | c.92A>T (p.Glu31Val) n.254A>T | dbSNP gnomAD v4 |
13 | g.48304004dup | CA891863068 | RB1 | c.92dup (p.Asp32GlyfsTer17) c.92dup (p.Asp32GlyfsTer26) n.254dup | ClinVar dbSNP |
13 | g.48304005G>A | CA483711637 | RB1 | c.93G>A (p.Glu31=) n.255G>A | ClinVar gnomAD v4 |
13 | g.48304005G>C | CA388250308 | RB1 | c.93G>C (p.Glu31Asp) n.255G>C | |
13 | g.48304005G>T | CA388250309 | RB1 | c.93G>T (p.Glu31Asp) n.255G>T | gnomAD v4 |
13 | g.48304006G>A | CA388250310 | RB1 | c.94G>A (p.Asp32Asn) n.256G>A | ClinVar dbSNP |
13 | g.48304006G>C | CA388250311 | RB1 | c.94G>C (p.Asp32His) n.256G>C | ClinVar dbSNP |
13 | g.48304006G= | CA2089950274 | RB1 | c.94G= (p.Asp32=) n.256G= | |
13 | g.48304006G>T | CA388250312 | RB1 | c.94G>T (p.Asp32Tyr) n.256G>T | gnomAD v4 |
13 | g.48304007A= | CA2089950277 | RB1 | c.95A= (p.Asp32=) n.257A= | |
13 | g.48304007A>C | CA388250313 | RB1 | c.95A>C (p.Asp32Ala) n.257A>C | |
13 | g.48304007A>G | CA388250314 | RB1 | c.95A>G (p.Asp32Gly) n.257A>G | gnomAD v4 |
13 | g.48304007A>T | CA388250315 | RB1 | c.95A>T (p.Asp32Val) n.257A>T | dbSNP |
13 | g.48304008C>A | CA388250316 | RB1 | c.96C>A (p.Asp32Glu) n.258C>A | ClinVar gnomAD v4 |
13 | g.48304008C= | CA2089950284 | RB1 | c.96C= (p.Asp32=) n.258C= | |
13 | g.48304008C>G | CA388250317 | RB1 | c.96C>G (p.Asp32Glu) n.258C>G | dbSNP |
13 | g.48304008C>T | CA483711638 | RB1 | c.96C>T (p.Asp32=) n.258C>T | dbSNP gnomAD v4 |
13 | g.48304010dup | CA916081688 | RB1 | c.98dup (p.Glu34ArgfsTer15) c.98dup (p.Glu34ArgfsTer24) n.260dup | ClinVar dbSNP |
13 | g.48304010del | CA2622977312 | RB1 | c.98del (p.Pro33GlnfsTer?) n.260del | gnomAD v4 |
13 | g.48304009C>A | CA388250319 | RB1 | c.97C>A (p.Pro33Thr) n.259C>A | dbSNP gnomAD v4 |
13 | g.48304009C>G | CA388250320 | RB1 | c.97C>G (p.Pro33Ala) n.259C>G | dbSNP |
13 | g.48304009C>T | CA388250318 | RB1 | c.97C>T (p.Pro33Ser) n.259C>T | ClinVar |
13 | g.48304010C>A | CA388250322 | RB1 | c.98C>A (p.Pro33Gln) n.260C>A | dbSNP gnomAD v4 |
13 | g.48304010C= | CA2089950289 | RB1 | c.98C= (p.Pro33=) n.260C= | |
13 | g.48304010C>G | CA388250321 | RB1 | c.98C>G (p.Pro33Arg) n.260C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48304010C>T | CA388250323 | RB1 | c.98C>T (p.Pro33Leu) n.260C>T | ClinVar dbSNP gnomAD v4 |
13 | g.48304011A= | CA2089950295 | RB1 | c.99A= (p.Pro33=) n.261A= | |
13 | g.48304011A>C | CA483711639 | RB1 | c.99A>C (p.Pro33=) n.261A>C | |
13 | g.48304011A>G | CA249842032 | RB1 | c.99A>G (p.Pro33=) n.261A>G | ClinVar dbSNP gnomAD v4 |
13 | g.48304011A>T | CA483711640 | RB1 | c.99A>T (p.Pro33=) n.261A>T | |
13 | g.48304012G>A | CA388250324 | RB1 | c.100G>A (p.Glu34Lys) n.262G>A | dbSNP gnomAD v4 |
13 | g.48304012G>C | CA388250325 | RB1 | c.100G>C (p.Glu34Gln) n.262G>C | ClinVar dbSNP |
13 | g.48304012G>T | CA388250326 | RB1 | c.100G>T (p.Glu34Ter) n.262G>T | ClinVar dbSNP gnomAD v4 |
13 | g.48304013A>C | CA388250327 | RB1 | c.101A>C (p.Glu34Ala) n.263A>C | |
13 | g.48304013A>G | CA388250328 | RB1 | c.101A>G (p.Glu34Gly) n.263A>G | dbSNP gnomAD v4 |
13 | g.48304013A>T | CA388250329 | RB1 | c.101A>T (p.Glu34Val) n.263A>T | dbSNP |
13 | g.48304014G>A | CA483711641 | RB1 | c.102G>A (p.Glu34=) n.264G>A | dbSNP gnomAD v4 |
13 | g.48304014G>C | CA388250330 | RB1 | c.102G>C (p.Glu34Asp) n.264G>C | ClinVar dbSNP |
13 | g.48304014G= | CA2089950299 | RB1 | c.102G= (p.Glu34=) n.264G= | |
13 | g.48304014G>T | CA388250331 | RB1 | c.102G>T (p.Glu34Asp) n.264G>T | dbSNP gnomAD v4 |
13 | g.48304015del | CA2622977313 | RB1 | c.103del (p.Gln35ArgfsTer30) c.103del (p.Gln35ArgfsTer?) n.265del | gnomAD v4 |
13 | g.48304015C>A | CA388250332 | RB1 | c.103C>A (p.Gln35Lys) n.265C>A | gnomAD v4 |
13 | g.48304015C= | CA2089950304 | RB1 | c.103C= (p.Gln35=) n.265C= | |
13 | g.48304015C>G | CA388250333 | RB1 | c.103C>G (p.Gln35Glu) n.265C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48304015C>T | CA026359 | RB1 | c.103C>T (p.Gln35Ter) n.265C>T | ClinVar dbSNP gnomAD v4 |
13 | g.48304016A= | CA2089950315 | RB1 | c.104A= (p.Gln35=) n.266A= | |
13 | g.48304016A>C | CA388250334 | RB1 | c.104A>C (p.Gln35Pro) n.266A>C | |
13 | g.48304016A>G | CA388250335 | RB1 | c.104A>G (p.Gln35Arg) n.266A>G | gnomAD v4 |
13 | g.48304016A>T | CA388250336 | RB1 | c.104A>T (p.Gln35Leu) n.266A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48304016_48304017delinsAG | CA2089950311 | RB1 | c.104_105delinsAG (p.Gln35=) n.266_267delinsAG | |
13 | g.48304017G>A | CA483711642 | RB1 | c.105G>A (p.Gln35=) n.267G>A | ClinVar dbSNP gnomAD v4 |
13 | g.48304017G>C | CA388250337 | RB1 | c.105G>C (p.Gln35His) n.267G>C | dbSNP gnomAD v4 |
13 | g.48304017G>T | CA388250338 | RB1 | c.105G>T (p.Gln35His) n.267G>T | gnomAD v4 |
13 | g.48304018del | CA645369602 | RB1 | c.106del (p.Asp36ThrfsTer29) c.106del (p.Asp36ThrfsTer?) n.268del | ClinVar dbSNP gnomAD v4 |
13 | g.48304018G>A | CA027539 | RB1 | c.106G>A (p.Asp36Asn) n.268G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48304018G>C | CA388250339 | RB1 | c.106G>C (p.Asp36His) n.268G>C | ClinVar dbSNP gnomAD v4 |
13 | g.48304018G= | CA2089950325 | RB1 | c.106G= (p.Asp36=) n.268G= | |
13 | g.48304018G>T | CA388250340 | RB1 | c.106G>T (p.Asp36Tyr) n.268G>T | gnomAD v4 |
13 | g.48304019A>C | CA388250341 | RB1 | c.107A>C (p.Asp36Ala) n.269A>C | dbSNP |
13 | g.48304019A>G | CA388250342 | RB1 | c.107A>G (p.Asp36Gly) n.269A>G | ClinVar dbSNP gnomAD v4 |
13 | g.48304019A>T | CA388250343 | RB1 | c.107A>T (p.Asp36Val) n.269A>T | gnomAD v4 |
13 | g.48304020C>A | CA388250344 | RB1 | c.108C>A (p.Asp36Glu) n.270C>A | gnomAD v4 |
13 | g.48304020C>G | CA388250345 | RB1 | c.108C>G (p.Asp36Glu) n.270C>G | dbSNP |
13 | g.48304020C>T | CA483711644 | RB1 | c.108C>T (p.Asp36=) n.270C>T | ClinVar dbSNP gnomAD v4 |
13 | g.48304021_48304028del | CA2695218226 | RB1 | c.109_116del (p.Ser37GlyfsTer9) c.109_116del (p.Ser37GlyfsTer18) n.271_278del | |
13 | g.48304021A= | CA2089950332 | RB1 | c.109A= (p.Ser37=) n.271A= | |
13 | g.48304021A>C | CA388250346 | RB1 | c.109A>C (p.Ser37Arg) n.271A>C | ClinVar dbSNP gnomAD v4 |
13 | g.48304021A>G | CA249842033 | RB1 | c.109A>G (p.Ser37Gly) n.271A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48304021A>T | CA388250347 | RB1 | c.109A>T (p.Ser37Cys) n.271A>T | dbSNP gnomAD v4 |
13 | g.48304021dup | CA2739277672 | RB1 | c.109dup (p.Ser37LysfsTer12) c.109dup (p.Ser37LysfsTer21) n.271dup | ClinVar |
13 | g.48304021_48304024delinsCCAGA | CA2831039828 | RB1 | c.109_112delinsCCAGA (p.Ser37ProfsTer12) c.109_112delinsCCAGA (p.Ser37ProfsTer21) n.271_274delinsCCAGA | |
13 | g.48304022_48304034del | CA2697551900 | RB1 | c.110_122del (p.Ser37ThrfsTer24) c.110_122del (p.Ser37ThrfsTer?) n.272_284del | ClinVar |
13 | g.48304022G>A | CA388250348 | RB1 | c.110G>A (p.Ser37Asn) n.272G>A | dbSNP gnomAD v4 |
13 | g.48304022G>C | CA388250349 | RB1 | c.110G>C (p.Ser37Thr) n.272G>C | dbSNP |
13 | g.48304022G>T | CA388250350 | RB1 | c.110G>T (p.Ser37Ile) n.272G>T | gnomAD v4 |
13 | g.48304022dup | CA2695218227 | RB1 | c.110dup (p.Ser37ArgfsTer12) c.110dup (p.Ser37ArgfsTer21) n.272dup | |
13 | g.48304023C>A | CA388250352 | RB1 | c.111C>A (p.Ser37Arg) n.273C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48304023C= | CA2089950339 | RB1 | c.111C= (p.Ser37=) n.273C= | |
13 | g.48304023C>G | CA388250351 | RB1 | c.111C>G (p.Ser37Arg) n.273C>G | dbSNP |
13 | g.48304023C>T | CA483711645 | RB1 | c.111C>T (p.Ser37=) n.273C>T | ClinVar dbSNP gnomAD v4 |
13 | g.48304024G>A | CA388250353 | RB1 | c.112G>A (p.Gly38Ser) n.274G>A | ClinVar dbSNP gnomAD v4 |
13 | g.48304024G>C | CA388250355 | RB1 | c.112G>C (p.Gly38Arg) n.274G>C | |
13 | g.48304024G>T | CA388250354 | RB1 | c.112G>T (p.Gly38Cys) n.274G>T | gnomAD v4 |
13 | g.48304024_48304027delinsGGCC | CA2089950345 | RB1 | c.112_115delinsGGCC (p.Gly38=) n.274_277delinsGGCC | |
13 | g.48304025G>A | CA027677 | RB1 | c.113G>A (p.Gly38Asp) n.275G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48304025G>C | CA388250356 | RB1 | c.113G>C (p.Gly38Ala) n.275G>C | dbSNP |
13 | g.48304025G= | CA2089950354 | RB1 | c.113G= (p.Gly38=) n.275G= | |
13 | g.48304025G>T | CA388250357 | RB1 | c.113G>T (p.Gly38Val) n.275G>T | gnomAD v4 |
13 | g.48304025_48304027delinsCT | CA10575637 | RB1 | c.113_115delinsCT (p.Gly38AlafsTer27) c.113_115delinsCT (p.Gly38AlafsTer?) n.275_277delinsCT | ClinVar dbSNP |
13 | g.48304026C>A | CA483711646 | RB1 | c.114C>A (p.Gly38=) n.276C>A | gnomAD v4 |
13 | g.48304026C= | CA2089950360 | RB1 | c.114C= (p.Gly38=) n.276C= | |
13 | g.48304026C>G | CA483711647 | RB1 | c.114C>G (p.Gly38=) n.276C>G | |
13 | g.48304026C>T | CA483711648 | RB1 | c.114C>T (p.Gly38=) n.276C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48304028del | CA645580638 | RB1 | c.116del (p.Pro39ArgfsTer26) c.116del (p.Pro39ArgfsTer?) n.278del | gnomAD v4 COSMIC COSMIC |
13 | g.48304026_48304027insT | CA645580639 | RB1 | c.114_115insT (p.Pro39SerfsTer10) c.114_115insT (p.Pro39SerfsTer19) n.276_277insT | COSMIC COSMIC |
13 | g.48304027C>A | CA388250358 | RB1 | c.115C>A (p.Pro39Thr) n.277C>A | ClinVar dbSNP gnomAD v4 |
13 | g.48304027C>G | CA388250359 | RB1 | c.115C>G (p.Pro39Ala) n.277C>G | dbSNP |
13 | g.48304027C>T | CA388250360 | RB1 | c.115C>T (p.Pro39Ser) n.277C>T | ClinVar gnomAD v4 |
13 | g.48304028C>A | CA388250361 | RB1 | c.116C>A (p.Pro39Gln) n.278C>A | dbSNP gnomAD v4 |
13 | g.48304028C= | CA2089950367 | RB1 | c.116C= (p.Pro39=) n.278C= | |
13 | g.48304028C>G | CA388250362 | RB1 | c.116C>G (p.Pro39Arg) n.278C>G | ClinVar dbSNP |
13 | g.48304028C>T | CA388250363 | RB1 | c.116C>T (p.Pro39Leu) n.278C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.48304028_48304029delinsCG | CA2089950371 | RB1 | c.116_117delinsCG (p.Pro39=) n.278_279delinsCG | |
13 | g.48304029G>A | CA483711650 | RB1 | c.117G>A (p.Pro39=) n.279G>A | dbSNP gnomAD v4 |
13 | g.48304029G>C | CA483711651 | RB1 | c.117G>C (p.Pro39=) n.279G>C | dbSNP gnomAD v4 |
13 | g.48304029G>T | CA483711649 | RB1 | c.117G>T (p.Pro39=) n.279G>T | dbSNP gnomAD v4 |
13 | g.48304030del | CA915948547 | RB1 | c.118del (p.Glu40ArgfsTer25) c.118del (p.Glu40ArgfsTer?) n.280del | ClinVar dbSNP |
13 | g.48304030G>A | CA388250364 | RB1 | c.118G>A (p.Glu40Lys) n.280G>A | ClinVar dbSNP gnomAD v4 |
13 | g.48304030G>C | CA388250365 | RB1 | c.118G>C (p.Glu40Gln) n.280G>C | dbSNP |
13 | g.48304030G= | CA2089950379 | RB1 | c.118G= (p.Glu40=) n.280G= | |
13 | g.48304030G>T | CA388250366 | RB1 | c.118G>T (p.Glu40Ter) n.280G>T | ClinVar dbSNP gnomAD v4 |
13 | g.48304031A>C | CA388250368 | RB1 | c.119A>C (p.Glu40Ala) n.281A>C | |
13 | g.48304031A>G | CA388250369 | RB1 | c.119A>G (p.Glu40Gly) n.281A>G | ClinVar dbSNP gnomAD v4 |
13 | g.48304031A>T | CA388250367 | RB1 | c.119A>T (p.Glu40Val) n.281A>T | |
13 | g.48304032G>A | CA483711652 | RB1 | c.120G>A (p.Glu40=) n.282G>A | dbSNP gnomAD v4 |
13 | g.48304032G>C | CA388250370 | RB1 | c.120G>C (p.Glu40Asp) n.282G>C | |
13 | g.48304032G>T | CA388250371 | RB1 | c.120G>T (p.Glu40Asp) n.282G>T | ClinVar gnomAD v4 |
13 | g.48304032_48304036dup | CA2695218228 | RB1 | c.120_124dup (p.Leu42ArgfsTer25) c.120_124dup (p.Leu42ArgfsTer?) n.282_286dup | |
13 | g.48304033G>A | CA388250372 | RB1 | c.121G>A (p.Asp41Asn) n.283G>A | ClinVar dbSNP gnomAD v4 |
13 | g.48304033G>C | CA388250373 | RB1 | c.121G>C (p.Asp41His) n.283G>C | ClinVar dbSNP gnomAD v4 |
13 | g.48304033G= | CA2089950385 | RB1 | c.121G= (p.Asp41=) n.283G= | |
13 | g.48304033G>T | CA027989 | RB1 | c.121G>T (p.Asp41Tyr) n.283G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.48304034A>C | CA388250376 | RB1 | c.122A>C (p.Asp41Ala) n.284A>C | |
13 | g.48304034A>G | CA388250375 | RB1 | c.122A>G (p.Asp41Gly) n.284A>G | dbSNP gnomAD v4 |
13 | g.48304034A>T | CA388250374 | RB1 | c.122A>T (p.Asp41Val) n.284A>T | dbSNP |
13 | g.48304035C>A | CA388250377 | RB1 | c.123C>A (p.Asp41Glu) n.285C>A | gnomAD v4 |
13 | g.48304035C>G | CA388250378 | RB1 | c.123C>G (p.Asp41Glu) n.285C>G | dbSNP |
13 | g.48304035C>T | CA483711653 | RB1 | c.123C>T (p.Asp41=) n.285C>T | gnomAD v4 |
13 | g.48304036C>A | CA388250379 | RB1 | c.124C>A (p.Leu42Met) n.286C>A | ClinVar dbSNP gnomAD v4 |
13 | g.48304036C= | CA2089950390 | RB1 | c.124C= (p.Leu42=) n.286C= | |
13 | g.48304036C>G | CA388250380 | RB1 | c.124C>G (p.Leu42Val) n.286C>G | ClinVar dbSNP gnomAD v4 |
13 | g.48304036C>T | CA483711654 | RB1 | c.124C>T (p.Leu42=) n.286C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48304037T>A | CA388250381 | RB1 | c.125T>A (p.Leu42Gln) n.287T>A | ClinVar dbSNP gnomAD v4 |
13 | g.48304037T>C | CA388250382 | RB1 | c.125T>C (p.Leu42Pro) n.287T>C | ClinVar dbSNP gnomAD v4 |
13 | g.48304037T>G | CA388250383 | RB1 | c.125T>G (p.Leu42Arg) n.287T>G | gnomAD v4 |
13 | g.48304037T= | CA2089950396 | RB1 | c.125T= (p.Leu42=) n.287T= | |
13 | g.48304038G>A | CA483711655 | RB1 | c.126G>A (p.Leu42=) n.288G>A | dbSNP gnomAD v4 |
13 | g.48304038G>C | CA483711656 | RB1 | c.126G>C (p.Leu42=) n.288G>C | dbSNP gnomAD v4 |
13 | g.48304038G>T | CA483711657 | RB1 | c.126G>T (p.Leu42=) n.288G>T | dbSNP gnomAD v4 |
13 | g.48304039C>A | CA388250386 | RB1 | c.127C>A (p.Pro43Thr) n.289C>A | gnomAD v4 |
13 | g.48304039C>G | CA388250385 | RB1 | c.127C>G (p.Pro43Ala) n.289C>G | dbSNP |
13 | g.48304039C>T | CA388250384 | RB1 | c.127C>T (p.Pro43Ser) n.289C>T | gnomAD v4 |
13 | g.48304040dup | CA2580087728 | RB1 | c.128dup (p.Leu44SerfsTer5) c.128dup (p.Leu44SerfsTer14) n.290dup | ClinVar |
13 | g.48304040C>A | CA388250387 | RB1 | c.128C>A (p.Pro43His) n.290C>A | gnomAD v4 |
13 | g.48304040C= | CA2089950405 | RB1 | c.128C= (p.Pro43=) n.290C= | |
13 | g.48304040C>G | CA388250389 | RB1 | c.128C>G (p.Pro43Arg) n.290C>G | ClinVar dbSNP |
13 | g.48304040C>T | CA388250388 | RB1 | c.128C>T (p.Pro43Leu) n.290C>T | ClinVar |
13 | g.48304043_48304044del | CA2580614816 | RB1 | c.131_132del (p.Leu44ArgfsTer4) c.131_132del (p.Leu44ArgfsTer13) n.293_294del | ClinVar |
13 | g.48304041del | CA2575413228 | RB1 | c.129del (p.Leu44SerfsTer21) c.129del (p.Leu44SerfsTer?) n.291del | |
13 | g.48304041T>A | CA483711658 | RB1 | c.129T>A (p.Pro43=) n.291T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48304041T>C | CA483711659 | RB1 | c.129T>C (p.Pro43=) n.291T>C | dbSNP gnomAD v4 |
13 | g.48304041T>G | CA483711660 | RB1 | c.129T>G (p.Pro43=) n.291T>G | |
13 | g.48304041T= | CA2089950413 | RB1 | c.129T= (p.Pro43=) n.291T= | |
13 | g.48304042del | CA2695218229 | RB1 | c.130del (p.Leu44SerfsTer21) c.130del (p.Leu44SerfsTer?) n.292del | |
13 | g.48304042C>A | CA388250390 | RB1 | c.130C>A (p.Leu44Ile) n.292C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48304042C= | CA2089950419 | RB1 | c.130C= (p.Leu44=) n.292C= | |
13 | g.48304042C>G | CA388250392 | RB1 | c.130C>G (p.Leu44Val) n.292C>G | ClinVar dbSNP gnomAD v4 |
13 | g.48304042C>T | CA388250391 | RB1 | c.130C>T (p.Leu44Phe) n.292C>T | ClinVar dbSNP gnomAD v4 |
13 | g.48304043T>A | CA388250393 | RB1 | c.131T>A (p.Leu44His) n.293T>A | dbSNP |
13 | g.48304043T>C | CA388250395 | RB1 | c.131T>C (p.Leu44Pro) n.293T>C | dbSNP gnomAD v4 |
13 | g.48304043T>G | CA388250394 | RB1 | c.131T>G (p.Leu44Arg) n.293T>G | |
13 | g.48304045_48304047del | CA2622977314 | RB1 | c.133_135del (p.Val45del) n.295_297del | ClinVar gnomAD v4 |
13 | g.48304044C>A | CA483711661 | RB1 | c.132C>A (p.Leu44=) n.294C>A | ClinVar dbSNP gnomAD v4 |
13 | g.48304044C>G | CA483711662 | RB1 | c.132C>G (p.Leu44=) n.294C>G | dbSNP gnomAD v4 |
13 | g.48304044C>T | CA483711663 | RB1 | c.132C>T (p.Leu44=) n.294C>T | ClinVar dbSNP gnomAD v4 |
13 | g.48304045G>A | CA388250396 | RB1 | c.133G>A (p.Val45Ile) n.295G>A | dbSNP gnomAD v4 |
13 | g.48304045G>C | CA388250398 | RB1 | c.133G>C (p.Val45Leu) n.295G>C | ClinVar dbSNP gnomAD v4 |
13 | g.48304045G>T | CA388250397 | RB1 | c.133G>T (p.Val45Phe) n.295G>T | ClinVar gnomAD v4 |
13 | g.48304046T>A | CA388250399 | RB1 | c.134T>A (p.Val45Asp) n.296T>A | |
13 | g.48304046T>C | CA388250400 | RB1 | c.134T>C (p.Val45Ala) n.296T>C | dbSNP gnomAD v4 |
13 | g.48304046T>G | CA388250401 | RB1 | c.134T>G (p.Val45Gly) n.296T>G | |
13 | g.48304047C>A | CA483711664 | RB1 | c.135C>A (p.Val45=) n.297C>A | dbSNP gnomAD v4 |
13 | g.48304047C= | CA2089950424 | RB1 | c.135C= (p.Val45=) n.297C= | |
13 | g.48304047C>G | CA483711665 | RB1 | c.135C>G (p.Val45=) n.297C>G | dbSNP |
13 | g.48304047C>T | CA483711666 | RB1 | c.135C>T (p.Val45=) n.297C>T | ClinVar dbSNP gnomAD v4 |
13 | g.48304048del | CA2697551901 | RB1 | c.136del (p.Arg46GlyfsTer19) c.136del (p.Arg46GlyfsTer?) n.298del | ClinVar |
13 | g.48304048A= | CA2089950430 | RB1 | c.136A= (p.Arg46=) n.298A= | |
13 | g.48304048A>C | CA483711667 | RB1 | c.136A>C (p.Arg46=) n.298A>C | |
13 | g.48304048A>G | CA388250402 | RB1 | c.136A>G (p.Arg46Gly) n.298A>G | dbSNP gnomAD v2 gnomAD v4 |
13 | g.48304048A>T | CA388250403 | RB1 | c.136A>T (p.Arg46Trp) n.298A>T | gnomAD v4 |
13 | g.48304049G>A | CA388250404 | RB1 | c.137G>A (p.Arg46Lys) n.299G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.48304049G>C | CA388250405 | RB1 | c.137G>C (p.Arg46Thr) n.299G>C | ClinVar dbSNP |
13 | g.48304049G>T | CA388250406 | RB1 | c.137G>T (p.Arg46Met) n.299G>T | gnomAD v4 |
13 | g.48304050G>A | CA388250407 | RB1 | c.137+1G>A (n.137+1G>A) n.299+1G>A | ClinVar dbSNP gnomAD v4 |
13 | g.48304050G>C | CA388250408 | RB1 | c.137+1G>C (n.137+1G>C) n.299+1G>C | dbSNP |
13 | g.48304050G= | CA2089950439 | RB1 | c.137+1G= (n.137+1G=) n.299+1G= | |
13 | g.48304050G>T | CA388250409 | RB1 | c.137+1G>T (n.137+1G>T) n.299+1G>T | ClinVar dbSNP gnomAD v4 |
13 | g.48304051T>A | CA388250412 | RB1 | c.137+2T>A (n.137+2T>A) n.299+2T>A | dbSNP gnomAD v4 |
13 | g.48304051T>C | CA388250410 | RB1 | c.137+2T>C (n.137+2T>C) n.299+2T>C | gnomAD v4 |
13 | g.48304051T>G | CA388250411 | RB1 | c.137+2T>G (n.137+2T>G) n.299+2T>G | ClinVar dbSNP |
13 | g.48304052G>A | CA2575413229 | RB1 | c.137+3G>A (n.137+3G>A) n.299+3G>A | ClinVar dbSNP gnomAD v4 |
13 | g.48304052G>C | CA2728036063 | RB1 | c.137+3G>C (n.137+3G>C) n.299+3G>C | dbSNP |
13 | g.48304052G>T | CA2622977315 | RB1 | c.137+3G>T (n.137+3G>T) n.299+3G>T | gnomAD v4 |
13 | g.48304053A>G | CA2573149555 | RB1 | c.137+4A>G (n.137+4A>G) n.299+4A>G | ClinVar dbSNP gnomAD v4 |
13 | g.48304053A>T | CA2622977316 | RB1 | c.137+4A>T (n.137+4A>T) n.299+4A>T | dbSNP gnomAD v4 |
13 | g.48304054G>A | CA2622977317 | RB1 | c.137+5G>A (n.137+5G>A) n.299+5G>A | gnomAD v4 |
13 | g.48304054G>C | CA2622977318 | RB1 | c.137+5G>C (n.137+5G>C) n.299+5G>C | dbSNP gnomAD v4 |
13 | g.48304054G>T | CA2622977319 | RB1 | c.137+5G>T (n.137+5G>T) n.299+5G>T | gnomAD v4 |
13 | g.48304055C>A | CA609859346 | RB1 | c.137+6C>A (n.137+6C>A) n.299+6C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48304055C= | CA2089950449 | RB1 | c.137+6C= (n.137+6C=) n.299+6C= | |
13 | g.48304055C>G | CA2573149556 | RB1 | c.137+6C>G (n.137+6C>G) n.299+6C>G | ClinVar dbSNP gnomAD v4 |
13 | g.48304055C>T | CA891844035 | RB1 | c.137+6C>T (n.137+6C>T) n.299+6C>T | ClinVar dbSNP gnomAD v4 |
13 | g.48304056G>A | CA2089950452 | RB1 | c.137+7G>A (n.137+7G>A) n.299+7G>A | ClinVar dbSNP gnomAD v4 |
13 | g.48304056G>C | CA2727893527 | RB1 | c.137+7G>C (n.137+7G>C) n.299+7G>C | dbSNP |
13 | g.48304056G= | CA2089950451 | RB1 | c.137+7G= (n.137+7G=) n.299+7G= | |
13 | g.48304056G>T | CA2622977320 | RB1 | c.137+7G>T (n.137+7G>T) n.299+7G>T | ClinVar dbSNP gnomAD v4 |
13 | g.48304057A>C | CA2728036142 | RB1 | c.137+8A>C (n.137+8A>C) n.299+8A>C | dbSNP |
13 | g.48304057A>G | CA2622977321 | RB1 | c.137+8A>G (n.137+8A>G) n.299+8A>G | dbSNP gnomAD v4 |
13 | g.48304057A>T | CA2622977322 | RB1 | c.137+8A>T (n.137+8A>T) n.299+8A>T | dbSNP gnomAD v4 |
13 | g.48304058G>A | CA609859348 | RB1 | c.137+9G>A (n.137+9G>A) n.299+9G>A | dbSNP gnomAD v2 gnomAD v4 |
13 | g.48304058G>C | CA2727865848 | RB1 | c.137+9G>C (n.137+9G>C) n.299+9G>C | dbSNP |
13 | g.48304058G= | CA2089950457 | RB1 | c.137+9G= (n.137+9G=) n.299+9G= | |
13 | g.48304058G>T | CA2622977323 | RB1 | c.137+9G>T (n.137+9G>T) n.299+9G>T | gnomAD v4 |
13 | g.48304059C>A | CA2622977324 | RB1 | c.137+10C>A (n.137+10C>A) n.299+10C>A | dbSNP gnomAD v4 |
13 | g.48304059C= | CA2089950461 | RB1 | c.137+10C= (n.137+10C=) n.299+10C= | |
13 | g.48304059C>G | CA2622977325 | RB1 | c.137+10C>G (n.137+10C>G) n.299+10C>G | dbSNP gnomAD v4 |
13 | g.48304059C>T | CA609859349 | RB1 | c.137+10C>T (n.137+10C>T) n.299+10C>T | dbSNP gnomAD v2 gnomAD v4 |
13 | g.48304060A>C | CA2728036285 | RB1 | c.137+11A>C (n.137+11A>C) n.299+11A>C | dbSNP |
13 | g.48304060A>G | CA2573149557 | RB1 | c.137+11A>G (n.137+11A>G) n.299+11A>G | ClinVar dbSNP gnomAD v4 |
13 | g.48304061G>A | CA249842034 | RB1 | c.137+12G>A (n.137+12G>A) n.299+12G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48304061G>C | CA2580087729 | RB1 | c.137+12G>C (n.137+12G>C) n.299+12G>C | ClinVar dbSNP gnomAD v4 |
13 | g.48304061G= | CA2089950465 | RB1 | c.137+12G= (n.137+12G=) n.299+12G= | |
13 | g.48304061G>T | CA2622977326 | RB1 | c.137+12G>T (n.137+12G>T) n.299+12G>T | gnomAD v4 |
13 | g.48304062A= | CA2089950471 | RB1 | c.137+13A= (n.137+13A=) n.299+13A= | |
13 | g.48304062A>C | CA2575413231 | RB1 | c.137+13A>C (n.137+13A>C) n.299+13A>C | dbSNP |
13 | g.48304062A>G | CA2622977327 | RB1 | c.137+13A>G (n.137+13A>G) n.299+13A>G | dbSNP gnomAD v4 |
13 | g.48304062A>T | CA028302 | RB1 | c.137+13A>T (n.137+13A>T) n.299+13A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |