Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.48303906_48303969delCA2622977277RB1c.-7_57del
n.156_219del
gnomAD v4
13g.48303936_48303973delCA2697551898RB1c.24_61del (p.Lys8AsnfsTer10)
n.186_223del
ClinVar
13g.48303946_48303963delCA2580087714RB1c.34_51del (p.Thr12_Ala17del)
n.196_213del
ClinVar
13g.48303940_48303972delinsGCCGCCACCGCCGCCGCTGCCGCCGCGGAACCCCA2089949899RB1c.28_60delinsGCCGCCACCGCCGCCGCTGCCGCCGCGGAACCC (p.Ala10=)
n.190_222delinsGCCGCCACCGCCGCCGCTGCCGCCGCGGAACCC
13g.48303946_48303986delCA2831039826RB1c.34_74del (p.Thr12AlafsTer5)
n.196_236del
13g.48303944_48303975delCA915948544RB1c.32_63del (p.Ala11GlyfsTer9)
n.194_225del
ClinVar dbSNP
13g.48303946_48303983delCA2573149540RB1c.34_71del (p.Thr12AlafsTer6)
n.196_233del
ClinVar dbSNP
13g.48303945_48303977delCA2622977300RB1c.33_65del (p.Thr12_Ala22del)
n.195_227del
gnomAD v4
13g.48303944_48303976delinsCCACCGCCGCCGCTGCCGCCGCGGAACCCCCGGCA2089949929RB1c.32_64delinsCCACCGCCGCCGCTGCCGCCGCGGAACCCCCGG (p.Ala11=)
n.194_226delinsCCACCGCCGCCGCTGCCGCCGCGGAACCCCCGG
13g.48303957_48303988delCA915948545RB1c.45_76del (p.Ala17ProfsTer3)
n.207_238del
ClinVar dbSNP gnomAD v4
13g.48303947_48303976delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGGCA2089949954RB1c.35_64delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGG (p.Thr12=)
n.197_226delinsCCGCCGCCGCTGCCGCCGCGGAACCCCCGG
13g.48303957_48303991delCA2573149541RB1c.45_79del (p.Ala16ProfsTer3)
n.207_241del
ClinVar dbSNP gnomAD v4
13g.48303955_48303992dupCA2695199743RB1c.43_80dup (p.Pro28LeufsTer?)
n.205_242dup
ClinVar
13g.48303955_48303992delCA2499222421RB1c.43_80del (p.Ala15ProfsTer3)
n.205_242del
ClinVar dbSNP gnomAD v4
13g.48303949_48303977delCA16614430RB1c.37_65del (p.Ala13ThrfsTer8)
n.199_227del
ClinVar dbSNP
13g.48303957_48303965dupCA2089949978RB1c.45_53dup (p.Ala18_Glu19insAlaAlaAla)
n.207_215dup
ClinVar dbSNP gnomAD v4
13g.48303957_48303965delCA026451RB1c.45_53del (p.Ala16_Ala18del)
n.207_215del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48303957_48303985delCA2622977301RB1c.45_73del (p.Ala18ProfsTer3)
n.207_235del
gnomAD v4
13g.48303957_48303962dupCA609859316RB1c.45_50dup (p.Ala17_Ala18insAlaAla)
n.207_212dup
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48303957_48303962delCA2580614814RB1c.45_50del (p.Ala16_Ala17del)
n.207_212del
ClinVar
13g.48303957_48303982dupCA891844034RB1c.45_70dup (p.Pro24LeufsTer?)
n.207_232dup
ClinVar dbSNP
13g.48303957_48303982delCA2622977302RB1c.45_70del (p.Glu19ProfsTer3)
n.207_232del
gnomAD v4
13g.48303955_48303977dupCA256714RB1c.43_65dup (p.Pro23LeufsTer?)
n.205_227dup
ClinVar dbSNP
13g.48303957_48303983delinsTGCCGCCGCGGAACCCCCGGCACCGCCCA2089950036RB1c.45_71delinsTGCCGCCGCGGAACCCCCGGCACCGCC (p.Ala15=)
n.207_233delinsTGCCGCCGCGGAACCCCCGGCACCGCC
13g.48303960_48303965dupCA2825002178RB1c.48_53dup (p.Ala18_Glu19insAlaAla)
n.210_215dup
ClinVar
13g.48303963_48303965delCA916081686RB1c.51_53del (p.Ala18del)
n.213_215del
ClinVar dbSNP
13g.48303960_48303965delCA2622977303RB1c.48_53del (p.Ala17_Ala18del)
n.210_215del
gnomAD v4
13g.48303973_48303974insAGGCACCGCCGCCGCCGCCGCCGCGGAACCCCCA2580614815RB1c.61_62insAGGCACCGCCGCCGCCGCCGCCGCGGAACCCC (p.Pro21GlnfsTer?)
n.223_224insAGGCACCGCCGCCGCCGCCGCCGCGGAACCCC
dbSNP
13g.48303958_48303977delCA2831039827RB1c.46_65del (p.Ala16ThrfsTer8)
n.208_227del
13g.48303958_48303977dupCA2695218215RB1c.46_65dup (p.Pro25ArgfsTer?)
n.208_227dup
13g.48303966_48303988dupCA645369601RB1c.54_76dup (p.Pro26ArgfsTer?)
n.216_238dup
ClinVar dbSNP
13g.48303966_48303988delCA2622977304RB1c.54_76del (p.Glu19AlafsTer4)
n.216_238del
gnomAD v4
13g.48303966_48303991dupCA2580087721RB1c.54_79dup (p.Pro27ArgfsTer?)
n.216_241dup
ClinVar
13g.48303966_48303991delCA026461RB1c.54_79del (p.Glu19ProfsTer3)
n.216_241del
ClinVar dbSNP gnomAD v4
13g.48303961_48303992dupCA2697551899RB1c.49_80dup (p.Pro29ArgfsTer?)
n.211_242dup
ClinVar
13g.48303964_48303992delCA2622977305RB1c.52_80del (p.Ala18ProfsTer3)
n.214_242del
gnomAD v4
13g.48303961_48303992delCA2622977306RB1c.49_80del (p.Ala17ProfsTer3)
n.211_242del
gnomAD v4
13g.48303968_48303969insCCCCCGGCACCGCCGCGGACA2695218216RB1c.56_57insCCCCCGGCACCGCCGCGGA (p.Glu19AspfsTer18)
n.218_219insCCCCCGGCACCGCCGCGGA
13g.48303966_48303985dupCA658658234RB1c.54_73dup (p.Pro25ArgfsTer?)
n.216_235dup
ClinVar dbSNP
13g.48303962C>ACA388250225RB1c.50C>A (p.Ala17Asp)
n.212C>A
gnomAD v4
13g.48303962C=CA2089950064RB1c.50C= (p.Ala17=)
n.212C=
13g.48303962C>GCA388250227RB1c.50C>G (p.Ala17Gly)
n.212C>G
13g.48303962C>TCA388250226RB1c.50C>T (p.Ala17Val)
n.212C>T
ClinVar dbSNP gnomAD v4
13g.48303963C>ACA483711604RB1c.51C>A (p.Ala17=)
n.213C>A
dbSNP
13g.48303963C=CA2089950069RB1c.51C= (p.Ala17=)
n.213C=
13g.48303963C>GCA483711603RB1c.51C>G (p.Ala17=)
n.213C>G
ClinVar dbSNP gnomAD v4
13g.48303963C>TCA483711602RB1c.51C>T (p.Ala17=)
n.213C>T
ClinVar
13g.48303964G>ACA388250228RB1c.52G>A (p.Ala18Thr)
n.214G>A
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
13g.48303964G>CCA388250229RB1c.52G>C (p.Ala18Pro)
n.214G>C
dbSNP
13g.48303964G=CA2089950080RB1c.52G= (p.Ala18=)
n.214G=
13g.48303964G>TCA038529RB1c.52G>T (p.Ala18Ser)
n.214G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48303965C>ACA388250230RB1c.53C>A (p.Ala18Glu)
n.215C>A
gnomAD v4
13g.48303965C>GCA388250231RB1c.53C>G (p.Ala18Gly)
n.215C>G
13g.48303965C>TCA388250232RB1c.53C>T (p.Ala18Val)
n.215C>T
gnomAD v4
13g.48303966G>ACA483711605RB1c.54G>A (p.Ala18=)
n.216G>A
dbSNP gnomAD v4
13g.48303966G>CCA483711606RB1c.54G>C (p.Ala18=)
n.216G>C
dbSNP
13g.48303966G>TCA483711607RB1c.54G>T (p.Ala18=)
n.216G>T
gnomAD v4
13g.48303967delCA2695218217RB1c.55del (p.Glu19AsnfsTer?)
n.217del
13g.48303967G>ACA388250233RB1c.55G>A (p.Glu19Lys)
n.217G>A
dbSNP gnomAD v4
13g.48303967G>CCA388250234RB1c.55G>C (p.Glu19Gln)
n.217G>C
dbSNP
13g.48303967G>TCA388250235RB1c.55G>T (p.Glu19Ter)
n.217G>T
ClinVar gnomAD v4
13g.48303968_48303987dupCA2580087723RB1c.56_75dup (p.Pro26AsnfsTer?)
n.218_237dup
ClinVar
13g.48303968A>CCA388250236RB1c.56A>C (p.Glu19Ala)
n.218A>C
dbSNP
13g.48303968A>GCA388250238RB1c.56A>G (p.Glu19Gly)
n.218A>G
dbSNP
13g.48303968A>TCA388250237RB1c.56A>T (p.Glu19Val)
n.218A>T
ClinVar
13g.48303969A=CA2089950083RB1c.57A= (p.Glu19=)
n.219A=
13g.48303969A>CCA249842027RB1c.57A>C (p.Glu19Asp)
n.219A>C
dbSNP
13g.48303969A>GCA483711608RB1c.57A>G (p.Glu19=)
n.219A>G
ClinVar gnomAD v4
13g.48303969A>TCA388250239RB1c.57A>T (p.Glu19Asp)
n.219A>T
13g.48303969_48303970delinsACCA2089950085RB1c.57_58delinsAC (p.Glu19=)
n.219_220delinsAC
13g.48303969_48303982delinsACCCCCGGCACCGCCA2089950087RB1c.57_70delinsACCCCCGGCACCGC (p.Glu19=)
n.219_232delinsACCCCCGGCACCGC
13g.48303970C>ACA388250240RB1c.58C>A (p.Pro20Thr)
n.220C>A
dbSNP gnomAD v2 gnomAD v4
13g.48303970C=CA2089950096RB1c.58C= (p.Pro20=)
n.220C=
13g.48303970C>GCA388250241RB1c.58C>G (p.Pro20Ala)
n.220C>G
13g.48303970C>TCA388250242RB1c.58C>T (p.Pro20Ser)
n.220C>T
ClinVar dbSNP gnomAD v4
13g.48303974dupCA2499222422RB1c.62dup (p.Ala22GlyfsTer9)
n.224dup
ClinVar dbSNP gnomAD v4
13g.48303974delCA609859321RB1c.62del (p.Pro21ArgfsTer?)
n.224del
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48303971_48303983delCA1139663283RB1c.59_71del (p.Pro20ArgfsTer?)
n.221_233del
ClinVar dbSNP
13g.48303971C>ACA388250243RB1c.59C>A (p.Pro20His)
n.221C>A
gnomAD v4
13g.48303971C=CA2089950102RB1c.59C= (p.Pro20=)
n.221C=
13g.48303971C>GCA388250244RB1c.59C>G (p.Pro20Arg)
n.221C>G
13g.48303971C>TCA026462RB1c.59C>T (p.Pro20Leu)
n.221C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48303972C>ACA483711611RB1c.60C>A (p.Pro20=)
n.222C>A
ClinVar dbSNP gnomAD v4
13g.48303972C=CA2089950107RB1c.60C= (p.Pro20=)
n.222C=
13g.48303972C>GCA483711610RB1c.60C>G (p.Pro20=)
n.222C>G
ClinVar dbSNP gnomAD v4
13g.48303972C>TCA039113RB1c.60C>T (p.Pro20=)
n.222C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48303973C>ACA388250245RB1c.61C>A (p.Pro21Thr)
n.223C>A
gnomAD v4
13g.48303973C>GCA388250246RB1c.61C>G (p.Pro21Ala)
n.223C>G
gnomAD v4
13g.48303973C>TCA388250247RB1c.61C>T (p.Pro21Ser)
n.223C>T
dbSNP
13g.48303974C>ACA388250248RB1c.62C>A (p.Pro21Gln)
n.224C>A
dbSNP
13g.48303974C=CA2089950113RB1c.62C= (p.Pro21=)
n.224C=
13g.48303974C>GCA388250250RB1c.62C>G (p.Pro21Arg)
n.224C>G
ClinVar dbSNP gnomAD v4
13g.48303974C>TCA388250249RB1c.62C>T (p.Pro21Leu)
n.224C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48303975G>ACA483711614RB1c.63G>A (p.Pro21=)
n.225G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48303975G>CCA483711613RB1c.63G>C (p.Pro21=)
n.225G>C
ClinVar dbSNP
13g.48303975G=CA2089950120RB1c.63G= (p.Pro21=)
n.225G=
13g.48303975G>TCA483711612RB1c.63G>T (p.Pro21=)
n.225G>T
dbSNP gnomAD v4
13g.48303976dupCA249842028RB1c.64dup (p.Ala22GlyfsTer9)
n.226dup
dbSNP
13g.48303976G>ACA388250251RB1c.64G>A (p.Ala22Thr)
n.226G>A
dbSNP gnomAD v4
13g.48303976G>CCA388250252RB1c.64G>C (p.Ala22Pro)
n.226G>C
13g.48303976G>TCA388250253RB1c.64G>T (p.Ala22Ser)
n.226G>T
gnomAD v4
13g.48303976_48303979delinsGCACCA2089950123RB1c.64_67delinsGCAC (p.Ala22=)
n.226_229delinsGCAC
13g.48303977delCA2695218218RB1c.65del (p.Ala22AspfsTer?)
n.227del
13g.48303977C>ACA388250254RB1c.65C>A (p.Ala22Glu)
n.227C>A
dbSNP gnomAD v4
13g.48303977C>GCA388250255RB1c.65C>G (p.Ala22Gly)
n.227C>G
13g.48303977C>TCA388250256RB1c.65C>T (p.Ala22Val)
n.227C>T
dbSNP gnomAD v4
13g.48303978_48303980delCA609859325RB1c.66_68del (p.Pro23del)
n.228_230del
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48303978A=CA2089950135RB1c.66A= (p.Ala22=)
n.228A=
13g.48303978A>CCA16614436RB1c.66A>C (p.Ala22=)
n.228A>C
ClinVar dbSNP gnomAD v4
13g.48303978A>GCA16614283RB1c.66A>G (p.Ala22=)
n.228A>G
ClinVar dbSNP gnomAD v4
13g.48303978A>TCA483711615RB1c.66A>T (p.Ala22=)
n.228A>T
ClinVar
13g.48303978_48303981delinsACCGCA2089950133RB1c.66_69delinsACCG (p.Ala22=)
n.228_231delinsACCG
13g.48303979C>ACA388250259RB1c.67C>A (p.Pro23Thr)
n.229C>A
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48303979C=CA2089950163RB1c.67C= (p.Pro23=)
n.229C=
13g.48303979C>GCA388250257RB1c.67C>G (p.Pro23Ala)
n.229C>G
gnomAD v4
13g.48303979C>TCA388250258RB1c.67C>T (p.Pro23Ser)
n.229C>T
ClinVar dbSNP gnomAD v4
13g.48303990_48303992dupCA6978876RB1c.78_80dup (p.Pro27_Pro28insPro)
n.240_242dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48303987_48303992dupCA915948546RB1c.75_80dup (p.Pro27_Pro28insProPro)
n.237_242dup
ClinVar dbSNP
13g.48303990_48303992delCA026465RB1c.78_80del (p.Pro27del)
n.240_242del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48303987_48303992delCA2695218219RB1c.75_80del (p.Pro26_Pro27del)
n.237_242del
13g.48303980C>ACA388250262RB1c.68C>A (p.Pro23Gln)
n.230C>A
ClinVar dbSNP gnomAD v4
13g.48303980C=CA2089950173RB1c.68C= (p.Pro23=)
n.230C=
13g.48303980C>GCA388250260RB1c.68C>G (p.Pro23Arg)
n.230C>G
ClinVar
13g.48303980C>TCA388250261RB1c.68C>T (p.Pro23Leu)
n.230C>T
ClinVar dbSNP gnomAD v4
13g.48303981G>ACA483711616RB1c.69G>A (p.Pro23=)
n.231G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48303981G>CCA039263RB1c.69G>C (p.Pro23=)
n.231G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48303981G=CA2089950177RB1c.69G= (p.Pro23=)
n.231G=
13g.48303981G>TCA483711617RB1c.69G>T (p.Pro23=)
n.231G>T
gnomAD v4
13g.48303982C>ACA388250265RB1c.70C>A (p.Pro24Thr)
n.232C>A
dbSNP gnomAD v4
13g.48303982C=CA2089950182RB1c.70C= (p.Pro24=)
n.232C=
13g.48303982C>GCA388250263RB1c.70C>G (p.Pro24Ala)
n.232C>G
gnomAD v4
13g.48303982C>TCA388250264RB1c.70C>T (p.Pro24Ser)
n.232C>T
dbSNP gnomAD v3 gnomAD v4
13g.48303983C>ACA388250266RB1c.71C>A (p.Pro24Gln)
n.233C>A
ClinVar gnomAD v4
13g.48303983C=CA2089950185RB1c.71C= (p.Pro24=)
n.233C=
13g.48303983C>GCA388250267RB1c.71C>G (p.Pro24Arg)
n.233C>G
gnomAD v4
13g.48303983C>TCA388250268RB1c.71C>T (p.Pro24Leu)
n.233C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48303984G>ACA483711618RB1c.72G>A (p.Pro24=)
n.234G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48303984G>CCA483711619RB1c.72G>C (p.Pro24=)
n.234G>C
ClinVar dbSNP gnomAD v4
13g.48303984G=CA2089950188RB1c.72G= (p.Pro24=)
n.234G=
13g.48303984G>TCA483711620RB1c.72G>T (p.Pro24=)
n.234G>T
gnomAD v4
13g.48303985C>ACA388250269RB1c.73C>A (p.Pro25Thr)
n.235C>A
ClinVar gnomAD v4
13g.48303985C=CA2089950192RB1c.73C= (p.Pro25=)
n.235C=
13g.48303985C>GCA388250270RB1c.73C>G (p.Pro25Ala)
n.235C>G
13g.48303985C>TCA388250271RB1c.73C>T (p.Pro25Ser)
n.235C>T
ClinVar dbSNP gnomAD v4
13g.48303986C>ACA388250272RB1c.74C>A (p.Pro25Gln)
n.236C>A
gnomAD v4
13g.48303986C=CA2089950197RB1c.74C= (p.Pro25=)
n.236C=
13g.48303986C>GCA388250273RB1c.74C>G (p.Pro25Arg)
n.236C>G
dbSNP gnomAD v4
13g.48303986C>TCA388250274RB1c.74C>T (p.Pro25Leu)
n.236C>T
ClinVar dbSNP gnomAD v4
13g.48303987_48303988delCA2799116855RB1c.75_76del (p.Pro26AlafsTer4)
n.237_238del
13g.48303987G>ACA483711622RB1c.75G>A (p.Pro25=)
n.237G>A
ClinVar dbSNP gnomAD v4
13g.48303987G>CCA483711623RB1c.75G>C (p.Pro25=)
n.237G>C
dbSNP
13g.48303987G=CA2089950201RB1c.75G= (p.Pro25=)
n.237G=
13g.48303987G>TCA483711621RB1c.75G>T (p.Pro25=)
n.237G>T
ClinVar dbSNP gnomAD v4
13g.48303988C>ACA388250277RB1c.76C>A (p.Pro26Thr)
n.238C>A
gnomAD v4
13g.48303988C>GCA388250276RB1c.76C>G (p.Pro26Ala)
n.238C>G
dbSNP
13g.48303988C>TCA388250275RB1c.76C>T (p.Pro26Ser)
n.238C>T
ClinVar dbSNP gnomAD v4
13g.48303988_48303989delCA2622977307RB1c.76_77del (p.Pro26AlafsTer4)
n.238_239del
gnomAD v4
13g.48303988_48303990delinsCCGCA2089950208RB1c.76_78delinsCCG (p.Pro26=)
n.238_240delinsCCG
13g.48303990_48303995dupCA658798151RB1c.78_83dup (p.Pro28_Pro29insProPro)
n.240_245dup
ClinVar dbSNP gnomAD v4
13g.48303989C>ACA388250278RB1c.77C>A (p.Pro26Gln)
n.239C>A
gnomAD v4
13g.48303989C=CA2089950214RB1c.77C= (p.Pro26=)
n.239C=
13g.48303989C>GCA388250279RB1c.77C>G (p.Pro26Arg)
n.239C>G
13g.48303989C>TCA039485RB1c.77C>T (p.Pro26Leu)
n.239C>T
dbSNP ExAC gnomAD v2 gnomAD v4
13g.48303990_48303991delCA609859328RB1c.78_79del (p.Pro28SerfsTer2)
n.240_241del
dbSNP gnomAD v2 gnomAD v4
13g.48303990delCA2622977308RB1c.78del (p.Pro28LeufsTer?)
n.240del
gnomAD v4
13g.48303990G>ACA483711626RB1c.78G>A (p.Pro26=)
n.240G>A
gnomAD v4
13g.48303990G>CCA483711624RB1c.78G>C (p.Pro26=)
n.240G>C
ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48303990G=CA2089950218RB1c.78G= (p.Pro26=)
n.240G=
13g.48303990G>TCA483711625RB1c.78G>T (p.Pro26=)
n.240G>T
ClinVar dbSNP gnomAD v4
13g.48303990_48303991delinsGCCA2089950217RB1c.78_79delinsGC (p.Pro26=)
n.240_241delinsGC
13g.48303991C>ACA388250280RB1c.79C>A (p.Pro27Thr)
n.241C>A
13g.48303991C=CA2089950222RB1c.79C= (p.Pro27=)
n.241C=
13g.48303991C>GCA388250281RB1c.79C>G (p.Pro27Ala)
n.241C>G
dbSNP
13g.48303991C>TCA388250282RB1c.79C>T (p.Pro27Ser)
n.241C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48303995dupCA2622977309RB1c.83dup (p.Pro29SerfsTer2)
n.245dup
gnomAD v4
13g.48303994_48303995dupCA2695218220RB1c.82_83dup (p.Pro29LeufsTer?)
n.244_245dup
13g.48303995delCA609859331RB1c.83del (p.Pro28LeufsTer?)
n.245del
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48303992C>ACA388250283RB1c.80C>A (p.Pro27His)
n.242C>A
dbSNP gnomAD v4
13g.48303992C=CA2089950228RB1c.80C= (p.Pro27=)
n.242C=
13g.48303992C>GCA249842029RB1c.80C>G (p.Pro27Arg)
n.242C>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48303992C>TCA388250284RB1c.80C>T (p.Pro27Leu)
n.242C>T
ClinVar gnomAD v4
13g.48303993C>ACA483711627RB1c.81C>A (p.Pro27=)
n.243C>A
ClinVar dbSNP gnomAD v4
13g.48303993C=CA2089950236RB1c.81C= (p.Pro27=)
n.243C=
13g.48303993C>GCA483711629RB1c.81C>G (p.Pro27=)
n.243C>G
ClinVar dbSNP
13g.48303993C>TCA483711628RB1c.81C>T (p.Pro27=)
n.243C>T
ClinVar dbSNP gnomAD v4
13g.48303994C>ACA388250285RB1c.82C>A (p.Pro28Thr)
n.244C>A
ClinVar dbSNP gnomAD v4
13g.48303994C=CA2089950238RB1c.82C= (p.Pro28=)
n.244C=
13g.48303994C>GCA388250286RB1c.82C>G (p.Pro28Ala)
n.244C>G
13g.48303994C>TCA249842030RB1c.82C>T (p.Pro28Ser)
n.244C>T
ClinVar dbSNP gnomAD v4
13g.48303995C>ACA388250288RB1c.83C>A (p.Pro28His)
n.245C>A
dbSNP gnomAD v4
13g.48303995C=CA2089950241RB1c.83C= (p.Pro28=)
n.245C=
13g.48303995C>GCA039558RB1c.83C>G (p.Pro28Arg)
n.245C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48303995C>TCA388250287RB1c.83C>T (p.Pro28Leu)
n.245C>T
ClinVar dbSNP gnomAD v4
13g.48303996delCA2695218221RB1c.84del (p.Pro29LeufsTer?)
n.246del
13g.48303996T>ACA483711630RB1c.84T>A (p.Pro28=)
n.246T>A
ClinVar
13g.48303996T>CCA483711631RB1c.84T>C (p.Pro28=)
n.246T>C
gnomAD v4
13g.48303996T>GCA483711632RB1c.84T>G (p.Pro28=)
n.246T>G
13g.48303996dupCA2695218222RB1c.84dup (p.Pro29SerfsTer2)
n.246dup
13g.48303997C>ACA388250289RB1c.85C>A (p.Pro29Thr)
n.247C>A
gnomAD v4
13g.48303997C>GCA388250291RB1c.85C>G (p.Pro29Ala)
n.247C>G
dbSNP
13g.48303997C>TCA388250290RB1c.85C>T (p.Pro29Ser)
n.247C>T
13g.48303998dupCA2695218223RB1c.86dup (p.Glu30Ter)
n.248dup
13g.48303998C>ACA388250292RB1c.86C>A (p.Pro29His)
n.248C>A
gnomAD v4 COSMIC COSMIC
13g.48303998C=CA2089950249RB1c.86C= (p.Pro29=)
n.248C=
13g.48303998C>GCA388250293RB1c.86C>G (p.Pro29Arg)
n.248C>G
dbSNP
13g.48303998C>TCA249842031RB1c.86C>T (p.Pro29Leu)
n.248C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48303999delCA2622977310RB1c.87del (p.Glu30ArgfsTer?)
n.249del
gnomAD v4
13g.48303999T>ACA483711633RB1c.87T>A (p.Pro29=)
n.249T>A
gnomAD v4
13g.48303999T>CCA483711634RB1c.87T>C (p.Pro29=)
n.249T>C
gnomAD v4
13g.48303999T>GCA483711635RB1c.87T>G (p.Pro29=)
n.249T>G
gnomAD v4
13g.48304000delCA2622977311RB1c.88del (p.Glu30ArgfsTer?)
n.250del
gnomAD v4
13g.48304000G>ACA388250294RB1c.88G>A (p.Glu30Lys)
n.250G>A
dbSNP gnomAD v4
13g.48304000G>CCA388250295RB1c.88G>C (p.Glu30Gln)
n.250G>C
ClinVar dbSNP
13g.48304000G=CA2089950257RB1c.88G= (p.Glu30=)
n.250G=
13g.48304000G>TCA388250296RB1c.88G>T (p.Glu30Ter)
n.250G>T
dbSNP gnomAD v4
13g.48304001A=CA2089950261RB1c.89A= (p.Glu30=)
n.251A=
13g.48304001A>CCA388250297RB1c.89A>C (p.Glu30Ala)
n.251A>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48304001A>GCA388250298RB1c.89A>G (p.Glu30Gly)
n.251A>G
13g.48304001A>TCA388250299RB1c.89A>T (p.Glu30Val)
n.251A>T
dbSNP
13g.48304002G>ACA483711636RB1c.90G>A (p.Glu30=)
n.252G>A
gnomAD v4
13g.48304002G>CCA388250300RB1c.90G>C (p.Glu30Asp)
n.252G>C
dbSNP
13g.48304002G>TCA388250301RB1c.90G>T (p.Glu30Asp)
n.252G>T
gnomAD v4
13g.48304003delCA2695218224RB1c.91del (p.Glu31ArgfsTer?)
n.253del
13g.48304010_48304036dupCA2825002179RB1c.98_124dup (p.Asp41_Leu42insProGluGlnAspSerGlyProGluAsp)
n.260_286dup
ClinVar
13g.48304003G>ACA388250304RB1c.91G>A (p.Glu31Lys)
n.253G>A
gnomAD v4
13g.48304003G>CCA388250303RB1c.91G>C (p.Glu31Gln)
n.253G>C
dbSNP COSMIC COSMIC
13g.48304003G=CA2089950265RB1c.91G= (p.Glu31=)
n.253G=
13g.48304003G>TCA388250302RB1c.91G>T (p.Glu31Ter)
n.253G>T
gnomAD v4
13g.48304004_48304005delCA2695218225RB1c.92_93del (p.Glu31GlyfsTer17)
c.92_93del (p.Glu31GlyfsTer26)
n.254_255del
13g.48304004A>CCA388250305RB1c.92A>C (p.Glu31Ala)
n.254A>C
gnomAD v4
13g.48304004A>GCA388250306RB1c.92A>G (p.Glu31Gly)
n.254A>G
dbSNP gnomAD v4
13g.48304004A>TCA388250307RB1c.92A>T (p.Glu31Val)
n.254A>T
dbSNP gnomAD v4
13g.48304004dupCA891863068RB1c.92dup (p.Asp32GlyfsTer17)
c.92dup (p.Asp32GlyfsTer26)
n.254dup
ClinVar dbSNP
13g.48304005G>ACA483711637RB1c.93G>A (p.Glu31=)
n.255G>A
ClinVar gnomAD v4
13g.48304005G>CCA388250308RB1c.93G>C (p.Glu31Asp)
n.255G>C
13g.48304005G>TCA388250309RB1c.93G>T (p.Glu31Asp)
n.255G>T
gnomAD v4
13g.48304006G>ACA388250310RB1c.94G>A (p.Asp32Asn)
n.256G>A
ClinVar dbSNP
13g.48304006G>CCA388250311RB1c.94G>C (p.Asp32His)
n.256G>C
ClinVar dbSNP
13g.48304006G=CA2089950274RB1c.94G= (p.Asp32=)
n.256G=
13g.48304006G>TCA388250312RB1c.94G>T (p.Asp32Tyr)
n.256G>T
gnomAD v4
13g.48304007A=CA2089950277RB1c.95A= (p.Asp32=)
n.257A=
13g.48304007A>CCA388250313RB1c.95A>C (p.Asp32Ala)
n.257A>C
13g.48304007A>GCA388250314RB1c.95A>G (p.Asp32Gly)
n.257A>G
gnomAD v4
13g.48304007A>TCA388250315RB1c.95A>T (p.Asp32Val)
n.257A>T
dbSNP
13g.48304008C>ACA388250316RB1c.96C>A (p.Asp32Glu)
n.258C>A
ClinVar gnomAD v4
13g.48304008C=CA2089950284RB1c.96C= (p.Asp32=)
n.258C=
13g.48304008C>GCA388250317RB1c.96C>G (p.Asp32Glu)
n.258C>G
dbSNP
13g.48304008C>TCA483711638RB1c.96C>T (p.Asp32=)
n.258C>T
dbSNP gnomAD v4
13g.48304010dupCA916081688RB1c.98dup (p.Glu34ArgfsTer15)
c.98dup (p.Glu34ArgfsTer24)
n.260dup
ClinVar dbSNP
13g.48304010delCA2622977312RB1c.98del (p.Pro33GlnfsTer?)
n.260del
gnomAD v4
13g.48304009C>ACA388250319RB1c.97C>A (p.Pro33Thr)
n.259C>A
dbSNP gnomAD v4
13g.48304009C>GCA388250320RB1c.97C>G (p.Pro33Ala)
n.259C>G
dbSNP
13g.48304009C>TCA388250318RB1c.97C>T (p.Pro33Ser)
n.259C>T
ClinVar
13g.48304010C>ACA388250322RB1c.98C>A (p.Pro33Gln)
n.260C>A
dbSNP gnomAD v4
13g.48304010C=CA2089950289RB1c.98C= (p.Pro33=)
n.260C=
13g.48304010C>GCA388250321RB1c.98C>G (p.Pro33Arg)
n.260C>G
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48304010C>TCA388250323RB1c.98C>T (p.Pro33Leu)
n.260C>T
ClinVar dbSNP gnomAD v4
13g.48304011A=CA2089950295RB1c.99A= (p.Pro33=)
n.261A=
13g.48304011A>CCA483711639RB1c.99A>C (p.Pro33=)
n.261A>C
13g.48304011A>GCA249842032RB1c.99A>G (p.Pro33=)
n.261A>G
ClinVar dbSNP gnomAD v4
13g.48304011A>TCA483711640RB1c.99A>T (p.Pro33=)
n.261A>T
13g.48304012G>ACA388250324RB1c.100G>A (p.Glu34Lys)
n.262G>A
dbSNP gnomAD v4
13g.48304012G>CCA388250325RB1c.100G>C (p.Glu34Gln)
n.262G>C
ClinVar dbSNP
13g.48304012G>TCA388250326RB1c.100G>T (p.Glu34Ter)
n.262G>T
ClinVar dbSNP gnomAD v4
13g.48304013A>CCA388250327RB1c.101A>C (p.Glu34Ala)
n.263A>C
13g.48304013A>GCA388250328RB1c.101A>G (p.Glu34Gly)
n.263A>G
dbSNP gnomAD v4
13g.48304013A>TCA388250329RB1c.101A>T (p.Glu34Val)
n.263A>T
dbSNP
13g.48304014G>ACA483711641RB1c.102G>A (p.Glu34=)
n.264G>A
dbSNP gnomAD v4
13g.48304014G>CCA388250330RB1c.102G>C (p.Glu34Asp)
n.264G>C
ClinVar dbSNP
13g.48304014G=CA2089950299RB1c.102G= (p.Glu34=)
n.264G=
13g.48304014G>TCA388250331RB1c.102G>T (p.Glu34Asp)
n.264G>T
dbSNP gnomAD v4
13g.48304015delCA2622977313RB1c.103del (p.Gln35ArgfsTer30)
c.103del (p.Gln35ArgfsTer?)
n.265del
gnomAD v4
13g.48304015C>ACA388250332RB1c.103C>A (p.Gln35Lys)
n.265C>A
gnomAD v4
13g.48304015C=CA2089950304RB1c.103C= (p.Gln35=)
n.265C=
13g.48304015C>GCA388250333RB1c.103C>G (p.Gln35Glu)
n.265C>G
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48304015C>TCA026359RB1c.103C>T (p.Gln35Ter)
n.265C>T
ClinVar dbSNP gnomAD v4
13g.48304016A=CA2089950315RB1c.104A= (p.Gln35=)
n.266A=
13g.48304016A>CCA388250334RB1c.104A>C (p.Gln35Pro)
n.266A>C
13g.48304016A>GCA388250335RB1c.104A>G (p.Gln35Arg)
n.266A>G
gnomAD v4
13g.48304016A>TCA388250336RB1c.104A>T (p.Gln35Leu)
n.266A>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48304016_48304017delinsAGCA2089950311RB1c.104_105delinsAG (p.Gln35=)
n.266_267delinsAG
13g.48304017G>ACA483711642RB1c.105G>A (p.Gln35=)
n.267G>A
ClinVar dbSNP gnomAD v4
13g.48304017G>CCA388250337RB1c.105G>C (p.Gln35His)
n.267G>C
dbSNP gnomAD v4
13g.48304017G>TCA388250338RB1c.105G>T (p.Gln35His)
n.267G>T
gnomAD v4
13g.48304018delCA645369602RB1c.106del (p.Asp36ThrfsTer29)
c.106del (p.Asp36ThrfsTer?)
n.268del
ClinVar dbSNP gnomAD v4
13g.48304018G>ACA027539RB1c.106G>A (p.Asp36Asn)
n.268G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48304018G>CCA388250339RB1c.106G>C (p.Asp36His)
n.268G>C
ClinVar dbSNP gnomAD v4
13g.48304018G=CA2089950325RB1c.106G= (p.Asp36=)
n.268G=
13g.48304018G>TCA388250340RB1c.106G>T (p.Asp36Tyr)
n.268G>T
gnomAD v4
13g.48304019A>CCA388250341RB1c.107A>C (p.Asp36Ala)
n.269A>C
dbSNP
13g.48304019A>GCA388250342RB1c.107A>G (p.Asp36Gly)
n.269A>G
ClinVar dbSNP gnomAD v4
13g.48304019A>TCA388250343RB1c.107A>T (p.Asp36Val)
n.269A>T
gnomAD v4
13g.48304020C>ACA388250344RB1c.108C>A (p.Asp36Glu)
n.270C>A
gnomAD v4
13g.48304020C>GCA388250345RB1c.108C>G (p.Asp36Glu)
n.270C>G
dbSNP
13g.48304020C>TCA483711644RB1c.108C>T (p.Asp36=)
n.270C>T
ClinVar dbSNP gnomAD v4
13g.48304021_48304028delCA2695218226RB1c.109_116del (p.Ser37GlyfsTer9)
c.109_116del (p.Ser37GlyfsTer18)
n.271_278del
13g.48304021A=CA2089950332RB1c.109A= (p.Ser37=)
n.271A=
13g.48304021A>CCA388250346RB1c.109A>C (p.Ser37Arg)
n.271A>C
ClinVar dbSNP gnomAD v4
13g.48304021A>GCA249842033RB1c.109A>G (p.Ser37Gly)
n.271A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48304021A>TCA388250347RB1c.109A>T (p.Ser37Cys)
n.271A>T
dbSNP gnomAD v4
13g.48304021dupCA2739277672RB1c.109dup (p.Ser37LysfsTer12)
c.109dup (p.Ser37LysfsTer21)
n.271dup
ClinVar
13g.48304021_48304024delinsCCAGACA2831039828RB1c.109_112delinsCCAGA (p.Ser37ProfsTer12)
c.109_112delinsCCAGA (p.Ser37ProfsTer21)
n.271_274delinsCCAGA
13g.48304022_48304034delCA2697551900RB1c.110_122del (p.Ser37ThrfsTer24)
c.110_122del (p.Ser37ThrfsTer?)
n.272_284del
ClinVar
13g.48304022G>ACA388250348RB1c.110G>A (p.Ser37Asn)
n.272G>A
dbSNP gnomAD v4
13g.48304022G>CCA388250349RB1c.110G>C (p.Ser37Thr)
n.272G>C
dbSNP
13g.48304022G>TCA388250350RB1c.110G>T (p.Ser37Ile)
n.272G>T
gnomAD v4
13g.48304022dupCA2695218227RB1c.110dup (p.Ser37ArgfsTer12)
c.110dup (p.Ser37ArgfsTer21)
n.272dup
13g.48304023C>ACA388250352RB1c.111C>A (p.Ser37Arg)
n.273C>A
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48304023C=CA2089950339RB1c.111C= (p.Ser37=)
n.273C=
13g.48304023C>GCA388250351RB1c.111C>G (p.Ser37Arg)
n.273C>G
dbSNP
13g.48304023C>TCA483711645RB1c.111C>T (p.Ser37=)
n.273C>T
ClinVar dbSNP gnomAD v4
13g.48304024G>ACA388250353RB1c.112G>A (p.Gly38Ser)
n.274G>A
ClinVar dbSNP gnomAD v4
13g.48304024G>CCA388250355RB1c.112G>C (p.Gly38Arg)
n.274G>C
13g.48304024G>TCA388250354RB1c.112G>T (p.Gly38Cys)
n.274G>T
gnomAD v4
13g.48304024_48304027delinsGGCCCA2089950345RB1c.112_115delinsGGCC (p.Gly38=)
n.274_277delinsGGCC
13g.48304025G>ACA027677RB1c.113G>A (p.Gly38Asp)
n.275G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48304025G>CCA388250356RB1c.113G>C (p.Gly38Ala)
n.275G>C
dbSNP
13g.48304025G=CA2089950354RB1c.113G= (p.Gly38=)
n.275G=
13g.48304025G>TCA388250357RB1c.113G>T (p.Gly38Val)
n.275G>T
gnomAD v4
13g.48304025_48304027delinsCTCA10575637RB1c.113_115delinsCT (p.Gly38AlafsTer27)
c.113_115delinsCT (p.Gly38AlafsTer?)
n.275_277delinsCT
ClinVar dbSNP
13g.48304026C>ACA483711646RB1c.114C>A (p.Gly38=)
n.276C>A
gnomAD v4
13g.48304026C=CA2089950360RB1c.114C= (p.Gly38=)
n.276C=
13g.48304026C>GCA483711647RB1c.114C>G (p.Gly38=)
n.276C>G
13g.48304026C>TCA483711648RB1c.114C>T (p.Gly38=)
n.276C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48304028delCA645580638RB1c.116del (p.Pro39ArgfsTer26)
c.116del (p.Pro39ArgfsTer?)
n.278del
gnomAD v4 COSMIC COSMIC
13g.48304026_48304027insTCA645580639RB1c.114_115insT (p.Pro39SerfsTer10)
c.114_115insT (p.Pro39SerfsTer19)
n.276_277insT
COSMIC COSMIC
13g.48304027C>ACA388250358RB1c.115C>A (p.Pro39Thr)
n.277C>A
ClinVar dbSNP gnomAD v4
13g.48304027C>GCA388250359RB1c.115C>G (p.Pro39Ala)
n.277C>G
dbSNP
13g.48304027C>TCA388250360RB1c.115C>T (p.Pro39Ser)
n.277C>T
ClinVar gnomAD v4
13g.48304028C>ACA388250361RB1c.116C>A (p.Pro39Gln)
n.278C>A
dbSNP gnomAD v4
13g.48304028C=CA2089950367RB1c.116C= (p.Pro39=)
n.278C=
13g.48304028C>GCA388250362RB1c.116C>G (p.Pro39Arg)
n.278C>G
ClinVar dbSNP
13g.48304028C>TCA388250363RB1c.116C>T (p.Pro39Leu)
n.278C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48304028_48304029delinsCGCA2089950371RB1c.116_117delinsCG (p.Pro39=)
n.278_279delinsCG
13g.48304029G>ACA483711650RB1c.117G>A (p.Pro39=)
n.279G>A
dbSNP gnomAD v4
13g.48304029G>CCA483711651RB1c.117G>C (p.Pro39=)
n.279G>C
dbSNP gnomAD v4
13g.48304029G>TCA483711649RB1c.117G>T (p.Pro39=)
n.279G>T
dbSNP gnomAD v4
13g.48304030delCA915948547RB1c.118del (p.Glu40ArgfsTer25)
c.118del (p.Glu40ArgfsTer?)
n.280del
ClinVar dbSNP
13g.48304030G>ACA388250364RB1c.118G>A (p.Glu40Lys)
n.280G>A
ClinVar dbSNP gnomAD v4
13g.48304030G>CCA388250365RB1c.118G>C (p.Glu40Gln)
n.280G>C
dbSNP
13g.48304030G=CA2089950379RB1c.118G= (p.Glu40=)
n.280G=
13g.48304030G>TCA388250366RB1c.118G>T (p.Glu40Ter)
n.280G>T
ClinVar dbSNP gnomAD v4
13g.48304031A>CCA388250368RB1c.119A>C (p.Glu40Ala)
n.281A>C
13g.48304031A>GCA388250369RB1c.119A>G (p.Glu40Gly)
n.281A>G
ClinVar dbSNP gnomAD v4
13g.48304031A>TCA388250367RB1c.119A>T (p.Glu40Val)
n.281A>T
13g.48304032G>ACA483711652RB1c.120G>A (p.Glu40=)
n.282G>A
dbSNP gnomAD v4
13g.48304032G>CCA388250370RB1c.120G>C (p.Glu40Asp)
n.282G>C
13g.48304032G>TCA388250371RB1c.120G>T (p.Glu40Asp)
n.282G>T
ClinVar gnomAD v4
13g.48304032_48304036dupCA2695218228RB1c.120_124dup (p.Leu42ArgfsTer25)
c.120_124dup (p.Leu42ArgfsTer?)
n.282_286dup
13g.48304033G>ACA388250372RB1c.121G>A (p.Asp41Asn)
n.283G>A
ClinVar dbSNP gnomAD v4
13g.48304033G>CCA388250373RB1c.121G>C (p.Asp41His)
n.283G>C
ClinVar dbSNP gnomAD v4
13g.48304033G=CA2089950385RB1c.121G= (p.Asp41=)
n.283G=
13g.48304033G>TCA027989RB1c.121G>T (p.Asp41Tyr)
n.283G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.48304034A>CCA388250376RB1c.122A>C (p.Asp41Ala)
n.284A>C
13g.48304034A>GCA388250375RB1c.122A>G (p.Asp41Gly)
n.284A>G
dbSNP gnomAD v4
13g.48304034A>TCA388250374RB1c.122A>T (p.Asp41Val)
n.284A>T
dbSNP
13g.48304035C>ACA388250377RB1c.123C>A (p.Asp41Glu)
n.285C>A
gnomAD v4
13g.48304035C>GCA388250378RB1c.123C>G (p.Asp41Glu)
n.285C>G
dbSNP
13g.48304035C>TCA483711653RB1c.123C>T (p.Asp41=)
n.285C>T
gnomAD v4
13g.48304036C>ACA388250379RB1c.124C>A (p.Leu42Met)
n.286C>A
ClinVar dbSNP gnomAD v4
13g.48304036C=CA2089950390RB1c.124C= (p.Leu42=)
n.286C=
13g.48304036C>GCA388250380RB1c.124C>G (p.Leu42Val)
n.286C>G
ClinVar dbSNP gnomAD v4
13g.48304036C>TCA483711654RB1c.124C>T (p.Leu42=)
n.286C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48304037T>ACA388250381RB1c.125T>A (p.Leu42Gln)
n.287T>A
ClinVar dbSNP gnomAD v4
13g.48304037T>CCA388250382RB1c.125T>C (p.Leu42Pro)
n.287T>C
ClinVar dbSNP gnomAD v4
13g.48304037T>GCA388250383RB1c.125T>G (p.Leu42Arg)
n.287T>G
gnomAD v4
13g.48304037T=CA2089950396RB1c.125T= (p.Leu42=)
n.287T=
13g.48304038G>ACA483711655RB1c.126G>A (p.Leu42=)
n.288G>A
dbSNP gnomAD v4
13g.48304038G>CCA483711656RB1c.126G>C (p.Leu42=)
n.288G>C
dbSNP gnomAD v4
13g.48304038G>TCA483711657RB1c.126G>T (p.Leu42=)
n.288G>T
dbSNP gnomAD v4
13g.48304039C>ACA388250386RB1c.127C>A (p.Pro43Thr)
n.289C>A
gnomAD v4
13g.48304039C>GCA388250385RB1c.127C>G (p.Pro43Ala)
n.289C>G
dbSNP
13g.48304039C>TCA388250384RB1c.127C>T (p.Pro43Ser)
n.289C>T
gnomAD v4
13g.48304040dupCA2580087728RB1c.128dup (p.Leu44SerfsTer5)
c.128dup (p.Leu44SerfsTer14)
n.290dup
ClinVar
13g.48304040C>ACA388250387RB1c.128C>A (p.Pro43His)
n.290C>A
gnomAD v4
13g.48304040C=CA2089950405RB1c.128C= (p.Pro43=)
n.290C=
13g.48304040C>GCA388250389RB1c.128C>G (p.Pro43Arg)
n.290C>G
ClinVar dbSNP
13g.48304040C>TCA388250388RB1c.128C>T (p.Pro43Leu)
n.290C>T
ClinVar
13g.48304043_48304044delCA2580614816RB1c.131_132del (p.Leu44ArgfsTer4)
c.131_132del (p.Leu44ArgfsTer13)
n.293_294del
ClinVar
13g.48304041delCA2575413228RB1c.129del (p.Leu44SerfsTer21)
c.129del (p.Leu44SerfsTer?)
n.291del
13g.48304041T>ACA483711658RB1c.129T>A (p.Pro43=)
n.291T>A
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48304041T>CCA483711659RB1c.129T>C (p.Pro43=)
n.291T>C
dbSNP gnomAD v4
13g.48304041T>GCA483711660RB1c.129T>G (p.Pro43=)
n.291T>G
13g.48304041T=CA2089950413RB1c.129T= (p.Pro43=)
n.291T=
13g.48304042delCA2695218229RB1c.130del (p.Leu44SerfsTer21)
c.130del (p.Leu44SerfsTer?)
n.292del
13g.48304042C>ACA388250390RB1c.130C>A (p.Leu44Ile)
n.292C>A
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48304042C=CA2089950419RB1c.130C= (p.Leu44=)
n.292C=
13g.48304042C>GCA388250392RB1c.130C>G (p.Leu44Val)
n.292C>G
ClinVar dbSNP gnomAD v4
13g.48304042C>TCA388250391RB1c.130C>T (p.Leu44Phe)
n.292C>T
ClinVar dbSNP gnomAD v4
13g.48304043T>ACA388250393RB1c.131T>A (p.Leu44His)
n.293T>A
dbSNP
13g.48304043T>CCA388250395RB1c.131T>C (p.Leu44Pro)
n.293T>C
dbSNP gnomAD v4
13g.48304043T>GCA388250394RB1c.131T>G (p.Leu44Arg)
n.293T>G
13g.48304045_48304047delCA2622977314RB1c.133_135del (p.Val45del)
n.295_297del
ClinVar gnomAD v4
13g.48304044C>ACA483711661RB1c.132C>A (p.Leu44=)
n.294C>A
ClinVar dbSNP gnomAD v4
13g.48304044C>GCA483711662RB1c.132C>G (p.Leu44=)
n.294C>G
dbSNP gnomAD v4
13g.48304044C>TCA483711663RB1c.132C>T (p.Leu44=)
n.294C>T
ClinVar dbSNP gnomAD v4
13g.48304045G>ACA388250396RB1c.133G>A (p.Val45Ile)
n.295G>A
dbSNP gnomAD v4
13g.48304045G>CCA388250398RB1c.133G>C (p.Val45Leu)
n.295G>C
ClinVar dbSNP gnomAD v4
13g.48304045G>TCA388250397RB1c.133G>T (p.Val45Phe)
n.295G>T
ClinVar gnomAD v4
13g.48304046T>ACA388250399RB1c.134T>A (p.Val45Asp)
n.296T>A
13g.48304046T>CCA388250400RB1c.134T>C (p.Val45Ala)
n.296T>C
dbSNP gnomAD v4
13g.48304046T>GCA388250401RB1c.134T>G (p.Val45Gly)
n.296T>G
13g.48304047C>ACA483711664RB1c.135C>A (p.Val45=)
n.297C>A
dbSNP gnomAD v4
13g.48304047C=CA2089950424RB1c.135C= (p.Val45=)
n.297C=
13g.48304047C>GCA483711665RB1c.135C>G (p.Val45=)
n.297C>G
dbSNP
13g.48304047C>TCA483711666RB1c.135C>T (p.Val45=)
n.297C>T
ClinVar dbSNP gnomAD v4
13g.48304048delCA2697551901RB1c.136del (p.Arg46GlyfsTer19)
c.136del (p.Arg46GlyfsTer?)
n.298del
ClinVar
13g.48304048A=CA2089950430RB1c.136A= (p.Arg46=)
n.298A=
13g.48304048A>CCA483711667RB1c.136A>C (p.Arg46=)
n.298A>C
13g.48304048A>GCA388250402RB1c.136A>G (p.Arg46Gly)
n.298A>G
dbSNP gnomAD v2 gnomAD v4
13g.48304048A>TCA388250403RB1c.136A>T (p.Arg46Trp)
n.298A>T
gnomAD v4
13g.48304049G>ACA388250404RB1c.137G>A (p.Arg46Lys)
n.299G>A
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
13g.48304049G>CCA388250405RB1c.137G>C (p.Arg46Thr)
n.299G>C
ClinVar dbSNP
13g.48304049G>TCA388250406RB1c.137G>T (p.Arg46Met)
n.299G>T
gnomAD v4
13g.48304050G>ACA388250407RB1c.137+1G>A (n.137+1G>A)
n.299+1G>A
ClinVar dbSNP gnomAD v4
13g.48304050G>CCA388250408RB1c.137+1G>C (n.137+1G>C)
n.299+1G>C
dbSNP
13g.48304050G=CA2089950439RB1c.137+1G= (n.137+1G=)
n.299+1G=
13g.48304050G>TCA388250409RB1c.137+1G>T (n.137+1G>T)
n.299+1G>T
ClinVar dbSNP gnomAD v4
13g.48304051T>ACA388250412RB1c.137+2T>A (n.137+2T>A)
n.299+2T>A
dbSNP gnomAD v4
13g.48304051T>CCA388250410RB1c.137+2T>C (n.137+2T>C)
n.299+2T>C
gnomAD v4
13g.48304051T>GCA388250411RB1c.137+2T>G (n.137+2T>G)
n.299+2T>G
ClinVar dbSNP
13g.48304052G>ACA2575413229RB1c.137+3G>A (n.137+3G>A)
n.299+3G>A
ClinVar dbSNP gnomAD v4
13g.48304052G>CCA2728036063RB1c.137+3G>C (n.137+3G>C)
n.299+3G>C
dbSNP
13g.48304052G>TCA2622977315RB1c.137+3G>T (n.137+3G>T)
n.299+3G>T
gnomAD v4
13g.48304053A>GCA2573149555RB1c.137+4A>G (n.137+4A>G)
n.299+4A>G
ClinVar dbSNP gnomAD v4
13g.48304053A>TCA2622977316RB1c.137+4A>T (n.137+4A>T)
n.299+4A>T
dbSNP gnomAD v4
13g.48304054G>ACA2622977317RB1c.137+5G>A (n.137+5G>A)
n.299+5G>A
gnomAD v4
13g.48304054G>CCA2622977318RB1c.137+5G>C (n.137+5G>C)
n.299+5G>C
dbSNP gnomAD v4
13g.48304054G>TCA2622977319RB1c.137+5G>T (n.137+5G>T)
n.299+5G>T
gnomAD v4
13g.48304055C>ACA609859346RB1c.137+6C>A (n.137+6C>A)
n.299+6C>A
ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48304055C=CA2089950449RB1c.137+6C= (n.137+6C=)
n.299+6C=
13g.48304055C>GCA2573149556RB1c.137+6C>G (n.137+6C>G)
n.299+6C>G
ClinVar dbSNP gnomAD v4
13g.48304055C>TCA891844035RB1c.137+6C>T (n.137+6C>T)
n.299+6C>T
ClinVar dbSNP gnomAD v4
13g.48304056G>ACA2089950452RB1c.137+7G>A (n.137+7G>A)
n.299+7G>A
ClinVar dbSNP gnomAD v4
13g.48304056G>CCA2727893527RB1c.137+7G>C (n.137+7G>C)
n.299+7G>C
dbSNP
13g.48304056G=CA2089950451RB1c.137+7G= (n.137+7G=)
n.299+7G=
13g.48304056G>TCA2622977320RB1c.137+7G>T (n.137+7G>T)
n.299+7G>T
ClinVar dbSNP gnomAD v4
13g.48304057A>CCA2728036142RB1c.137+8A>C (n.137+8A>C)
n.299+8A>C
dbSNP
13g.48304057A>GCA2622977321RB1c.137+8A>G (n.137+8A>G)
n.299+8A>G
dbSNP gnomAD v4
13g.48304057A>TCA2622977322RB1c.137+8A>T (n.137+8A>T)
n.299+8A>T
dbSNP gnomAD v4
13g.48304058G>ACA609859348RB1c.137+9G>A (n.137+9G>A)
n.299+9G>A
dbSNP gnomAD v2 gnomAD v4
13g.48304058G>CCA2727865848RB1c.137+9G>C (n.137+9G>C)
n.299+9G>C
dbSNP
13g.48304058G=CA2089950457RB1c.137+9G= (n.137+9G=)
n.299+9G=
13g.48304058G>TCA2622977323RB1c.137+9G>T (n.137+9G>T)
n.299+9G>T
gnomAD v4
13g.48304059C>ACA2622977324RB1c.137+10C>A (n.137+10C>A)
n.299+10C>A
dbSNP gnomAD v4
13g.48304059C=CA2089950461RB1c.137+10C= (n.137+10C=)
n.299+10C=
13g.48304059C>GCA2622977325RB1c.137+10C>G (n.137+10C>G)
n.299+10C>G
dbSNP gnomAD v4
13g.48304059C>TCA609859349RB1c.137+10C>T (n.137+10C>T)
n.299+10C>T
dbSNP gnomAD v2 gnomAD v4
13g.48304060A>CCA2728036285RB1c.137+11A>C (n.137+11A>C)
n.299+11A>C
dbSNP
13g.48304060A>GCA2573149557RB1c.137+11A>G (n.137+11A>G)
n.299+11A>G
ClinVar dbSNP gnomAD v4
13g.48304061G>ACA249842034RB1c.137+12G>A (n.137+12G>A)
n.299+12G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48304061G>CCA2580087729RB1c.137+12G>C (n.137+12G>C)
n.299+12G>C
ClinVar dbSNP gnomAD v4
13g.48304061G=CA2089950465RB1c.137+12G= (n.137+12G=)
n.299+12G=
13g.48304061G>TCA2622977326RB1c.137+12G>T (n.137+12G>T)
n.299+12G>T
gnomAD v4
13g.48304062A=CA2089950471RB1c.137+13A= (n.137+13A=)
n.299+13A=
13g.48304062A>CCA2575413231RB1c.137+13A>C (n.137+13A>C)
n.299+13A>C
dbSNP
13g.48304062A>GCA2622977327RB1c.137+13A>G (n.137+13A>G)
n.299+13A>G
dbSNP gnomAD v4
13g.48304062A>TCA028302RB1c.137+13A>T (n.137+13A>T)
n.299+13A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched