Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23334045G>ACA483159484SACSc.9390C>T (p.Asp3130=)
c.9831C>T (p.Asp3277=)
c.9858C>T (p.Asp3286=)
c.9882C>T (p.Asp3294=)
c.9849C>T (p.Asp3283=)
c.9822C>T (p.Asp3274=)
c.7581C>T (p.Asp2527=)
n.1058-4561C>T (p.=)
n.2130-4561C>T
gnomAD
13g.23334045G>CCA387513558SACSc.9390C>G (p.Asp3130Glu)
c.9831C>G (p.Asp3277Glu)
c.9858C>G (p.Asp3286Glu)
c.9882C>G (p.Asp3294Glu)
c.9849C>G (p.Asp3283Glu)
c.9822C>G (p.Asp3274Glu)
c.7581C>G (p.Asp2527Glu)
n.1058-4561C>G (p.=)
n.2130-4561C>G
13g.23334045G>TCA387513559SACSc.9390C>A (p.Asp3130Glu)
c.9831C>A (p.Asp3277Glu)
c.9858C>A (p.Asp3286Glu)
c.9882C>A (p.Asp3294Glu)
c.9849C>A (p.Asp3283Glu)
c.9822C>A (p.Asp3274Glu)
c.7581C>A (p.Asp2527Glu)
n.1058-4561C>A (p.=)
n.2130-4561C>A
13g.23334045_23334058delCA16041610SACSc.9377_9390del (p.Asp3126ValfsTer20)
c.9818_9831del (p.Asp3273ValfsTer20)
c.9845_9858del (p.Asp3282ValfsTer20)
c.9869_9882del (p.Asp3290ValfsTer20)
c.9836_9849del (p.Asp3279ValfsTer20)
c.9809_9822del (p.Asp3270ValfsTer20)
c.7568_7581del (p.Asp2523ValfsTer20)
n.1058-4574_1058-4561del (p.=)
n.2130-4574_2130-4561del
ClinVar dbSNP
13g.23334046T>ACA387513562SACSc.9389A>T (p.Asp3130Val)
c.9830A>T (p.Asp3277Val)
c.9857A>T (p.Asp3286Val)
c.9881A>T (p.Asp3294Val)
c.9848A>T (p.Asp3283Val)
c.9821A>T (p.Asp3274Val)
c.7580A>T (p.Asp2527Val)
n.1058-4562A>T (p.=)
n.2130-4562A>T
13g.23334046T>CCA387513560SACSc.9389A>G (p.Asp3130Gly)
c.9830A>G (p.Asp3277Gly)
c.9857A>G (p.Asp3286Gly)
c.9881A>G (p.Asp3294Gly)
c.9848A>G (p.Asp3283Gly)
c.9821A>G (p.Asp3274Gly)
c.7580A>G (p.Asp2527Gly)
n.1058-4562A>G (p.=)
n.2130-4562A>G
13g.23334046T>GCA387513561SACSc.9389A>C (p.Asp3130Ala)
c.9830A>C (p.Asp3277Ala)
c.9857A>C (p.Asp3286Ala)
c.9881A>C (p.Asp3294Ala)
c.9848A>C (p.Asp3283Ala)
c.9821A>C (p.Asp3274Ala)
c.7580A>C (p.Asp2527Ala)
n.1058-4562A>C (p.=)
n.2130-4562A>C
13g.23334047C>ACA387513563SACSc.9388G>T (p.Asp3130Tyr)
c.9829G>T (p.Asp3277Tyr)
c.9856G>T (p.Asp3286Tyr)
c.9880G>T (p.Asp3294Tyr)
c.9847G>T (p.Asp3283Tyr)
c.9820G>T (p.Asp3274Tyr)
c.7579G>T (p.Asp2527Tyr)
n.1058-4563G>T (p.=)
n.2130-4563G>T
COSMIC
13g.23334047C>GCA387513564SACSc.9388G>C (p.Asp3130His)
c.9829G>C (p.Asp3277His)
c.9856G>C (p.Asp3286His)
c.9880G>C (p.Asp3294His)
c.9847G>C (p.Asp3283His)
c.9820G>C (p.Asp3274His)
c.7579G>C (p.Asp2527His)
n.1058-4563G>C (p.=)
n.2130-4563G>C
13g.23334047C>TCA387513565SACSc.9388G>A (p.Asp3130Asn)
c.9829G>A (p.Asp3277Asn)
c.9856G>A (p.Asp3286Asn)
c.9880G>A (p.Asp3294Asn)
c.9847G>A (p.Asp3283Asn)
c.9820G>A (p.Asp3274Asn)
c.7579G>A (p.Asp2527Asn)
n.1058-4563G>A (p.=)
n.2130-4563G>A
13g.23334048T>ACA387513566SACSc.9387A>T (p.Lys3129Asn)
c.9828A>T (p.Lys3276Asn)
c.9855A>T (p.Lys3285Asn)
c.9879A>T (p.Lys3293Asn)
c.9846A>T (p.Lys3282Asn)
c.9819A>T (p.Lys3273Asn)
c.7578A>T (p.Lys2526Asn)
n.1058-4564A>T (p.=)
n.2130-4564A>T
gnomAD
13g.23334048T>CCA483159489SACSc.9387A>G (p.Lys3129=)
c.9828A>G (p.Lys3276=)
c.9855A>G (p.Lys3285=)
c.9879A>G (p.Lys3293=)
c.9846A>G (p.Lys3282=)
c.9819A>G (p.Lys3273=)
c.7578A>G (p.Lys2526=)
n.1058-4564A>G (p.=)
n.2130-4564A>G
13g.23334048T>GCA387513567SACSc.9387A>C (p.Lys3129Asn)
c.9828A>C (p.Lys3276Asn)
c.9855A>C (p.Lys3285Asn)
c.9879A>C (p.Lys3293Asn)
c.9846A>C (p.Lys3282Asn)
c.9819A>C (p.Lys3273Asn)
c.7578A>C (p.Lys2526Asn)
n.1058-4564A>C (p.=)
n.2130-4564A>C
13g.23334049T>ACA387513568SACSc.9386A>T (p.Lys3129Ile)
c.9827A>T (p.Lys3276Ile)
c.9854A>T (p.Lys3285Ile)
c.9878A>T (p.Lys3293Ile)
c.9845A>T (p.Lys3282Ile)
c.9818A>T (p.Lys3273Ile)
c.7577A>T (p.Lys2526Ile)
n.1058-4565A>T (p.=)
n.2130-4565A>T
13g.23334049T>CCA387513569SACSc.9386A>G (p.Lys3129Arg)
c.9827A>G (p.Lys3276Arg)
c.9854A>G (p.Lys3285Arg)
c.9878A>G (p.Lys3293Arg)
c.9845A>G (p.Lys3282Arg)
c.9818A>G (p.Lys3273Arg)
c.7577A>G (p.Lys2526Arg)
n.1058-4565A>G (p.=)
n.2130-4565A>G
13g.23334049T>GCA387513570SACSc.9386A>C (p.Lys3129Thr)
c.9827A>C (p.Lys3276Thr)
c.9854A>C (p.Lys3285Thr)
c.9878A>C (p.Lys3293Thr)
c.9845A>C (p.Lys3282Thr)
c.9818A>C (p.Lys3273Thr)
c.7577A>C (p.Lys2526Thr)
n.1058-4565A>C (p.=)
n.2130-4565A>C
13g.23334050T>ACA387513571SACSc.9385A>T (p.Lys3129Ter)
c.9826A>T (p.Lys3276Ter)
c.9853A>T (p.Lys3285Ter)
c.9877A>T (p.Lys3293Ter)
c.9844A>T (p.Lys3282Ter)
c.9817A>T (p.Lys3273Ter)
c.7576A>T (p.Lys2526Ter)
n.1058-4566A>T (p.=)
n.2130-4566A>T
13g.23334050T>CCA387513572SACSc.9385A>G (p.Lys3129Glu)
c.9826A>G (p.Lys3276Glu)
c.9853A>G (p.Lys3285Glu)
c.9877A>G (p.Lys3293Glu)
c.9844A>G (p.Lys3282Glu)
c.9817A>G (p.Lys3273Glu)
c.7576A>G (p.Lys2526Glu)
n.1058-4566A>G (p.=)
n.2130-4566A>G
13g.23334050T>GCA387513573SACSc.9385A>C (p.Lys3129Gln)
c.9826A>C (p.Lys3276Gln)
c.9853A>C (p.Lys3285Gln)
c.9877A>C (p.Lys3293Gln)
c.9844A>C (p.Lys3282Gln)
c.9817A>C (p.Lys3273Gln)
c.7576A>C (p.Lys2526Gln)
n.1058-4566A>C (p.=)
n.2130-4566A>C
13g.23334051T>ACA483159495SACSc.9384A>T (p.Leu3128=)
c.9825A>T (p.Leu3275=)
c.9852A>T (p.Leu3284=)
c.9876A>T (p.Leu3292=)
c.9843A>T (p.Leu3281=)
c.9816A>T (p.Leu3272=)
c.7575A>T (p.Leu2525=)
n.1058-4567A>T (p.=)
n.2130-4567A>T
13g.23334051T>CCA6910556SACSc.9384A>G (p.Leu3128=)
c.9825A>G (p.Leu3275=)
c.9852A>G (p.Leu3284=)
c.9876A>G (p.Leu3292=)
c.9843A>G (p.Leu3281=)
c.9816A>G (p.Leu3272=)
c.7575A>G (p.Leu2525=)
n.1058-4567A>G (p.=)
n.2130-4567A>G
dbSNP ExAC gnomAD
13g.23334051T>GCA483159494SACSc.9384A>C (p.Leu3128=)
c.9825A>C (p.Leu3275=)
c.9852A>C (p.Leu3284=)
c.9876A>C (p.Leu3292=)
c.9843A>C (p.Leu3281=)
c.9816A>C (p.Leu3272=)
c.7575A>C (p.Leu2525=)
n.1058-4567A>C (p.=)
n.2130-4567A>C
13g.23334052A>CCA387513576SACSc.9383T>G (p.Leu3128Arg)
c.9824T>G (p.Leu3275Arg)
c.9851T>G (p.Leu3284Arg)
c.9875T>G (p.Leu3292Arg)
c.9842T>G (p.Leu3281Arg)
c.9815T>G (p.Leu3272Arg)
c.7574T>G (p.Leu2525Arg)
n.1058-4568T>G (p.=)
n.2130-4568T>G
13g.23334052A>GCA387513575SACSc.9383T>C (p.Leu3128Pro)
c.9824T>C (p.Leu3275Pro)
c.9851T>C (p.Leu3284Pro)
c.9875T>C (p.Leu3292Pro)
c.9842T>C (p.Leu3281Pro)
c.9815T>C (p.Leu3272Pro)
c.7574T>C (p.Leu2525Pro)
n.1058-4568T>C (p.=)
n.2130-4568T>C
13g.23334052A>TCA387513574SACSc.9383T>A (p.Leu3128Gln)
c.9824T>A (p.Leu3275Gln)
c.9851T>A (p.Leu3284Gln)
c.9875T>A (p.Leu3292Gln)
c.9842T>A (p.Leu3281Gln)
c.9815T>A (p.Leu3272Gln)
c.7574T>A (p.Leu2525Gln)
n.1058-4568T>A (p.=)
n.2130-4568T>A
13g.23334053G>ACA483159500SACSc.9382C>T (p.Leu3128=)
c.9823C>T (p.Leu3275=)
c.9850C>T (p.Leu3284=)
c.9874C>T (p.Leu3292=)
c.9841C>T (p.Leu3281=)
c.9814C>T (p.Leu3272=)
c.7573C>T (p.Leu2525=)
n.1058-4569C>T (p.=)
n.2130-4569C>T
13g.23334053G>CCA387513578SACSc.9382C>G (p.Leu3128Val)
c.9823C>G (p.Leu3275Val)
c.9850C>G (p.Leu3284Val)
c.9874C>G (p.Leu3292Val)
c.9841C>G (p.Leu3281Val)
c.9814C>G (p.Leu3272Val)
c.7573C>G (p.Leu2525Val)
n.1058-4569C>G (p.=)
n.2130-4569C>G
13g.23334053G>TCA387513577SACSc.9382C>A (p.Leu3128Ile)
c.9823C>A (p.Leu3275Ile)
c.9850C>A (p.Leu3284Ile)
c.9874C>A (p.Leu3292Ile)
c.9841C>A (p.Leu3281Ile)
c.9814C>A (p.Leu3272Ile)
c.7573C>A (p.Leu2525Ile)
n.1058-4569C>A (p.=)
n.2130-4569C>A
13g.23334054A>CCA483159501SACSc.9381T>G (p.Thr3127=)
c.9822T>G (p.Thr3274=)
c.9849T>G (p.Thr3283=)
c.9873T>G (p.Thr3291=)
c.9840T>G (p.Thr3280=)
c.9813T>G (p.Thr3271=)
c.7572T>G (p.Thr2524=)
n.1058-4570T>G (p.=)
n.2130-4570T>G
13g.23334054A>GCA6910557SACSc.9381T>C (p.Thr3127=)
c.9822T>C (p.Thr3274=)
c.9849T>C (p.Thr3283=)
c.9873T>C (p.Thr3291=)
c.9840T>C (p.Thr3280=)
c.9813T>C (p.Thr3271=)
c.7572T>C (p.Thr2524=)
n.1058-4570T>C (p.=)
n.2130-4570T>C
ClinVar dbSNP ExAC gnomAD
13g.23334054A>TCA483159503SACSc.9381T>A (p.Thr3127=)
c.9822T>A (p.Thr3274=)
c.9849T>A (p.Thr3283=)
c.9873T>A (p.Thr3291=)
c.9840T>A (p.Thr3280=)
c.9813T>A (p.Thr3271=)
c.7572T>A (p.Thr2524=)
n.1058-4570T>A (p.=)
n.2130-4570T>A
13g.23334055G>ACA387513579SACSc.9380C>T (p.Thr3127Ile)
c.9821C>T (p.Thr3274Ile)
c.9848C>T (p.Thr3283Ile)
c.9872C>T (p.Thr3291Ile)
c.9839C>T (p.Thr3280Ile)
c.9812C>T (p.Thr3271Ile)
c.7571C>T (p.Thr2524Ile)
n.1058-4571C>T (p.=)
n.2130-4571C>T
13g.23334055G>CCA6910558SACSc.9380C>G (p.Thr3127Ser)
c.9821C>G (p.Thr3274Ser)
c.9848C>G (p.Thr3283Ser)
c.9872C>G (p.Thr3291Ser)
c.9839C>G (p.Thr3280Ser)
c.9812C>G (p.Thr3271Ser)
c.7571C>G (p.Thr2524Ser)
n.1058-4571C>G (p.=)
n.2130-4571C>G
dbSNP ExAC gnomAD
13g.23334055G>TCA387513580SACSc.9380C>A (p.Thr3127Asn)
c.9821C>A (p.Thr3274Asn)
c.9848C>A (p.Thr3283Asn)
c.9872C>A (p.Thr3291Asn)
c.9839C>A (p.Thr3280Asn)
c.9812C>A (p.Thr3271Asn)
c.7571C>A (p.Thr2524Asn)
n.1058-4571C>A (p.=)
n.2130-4571C>A
13g.23334056T>ACA387513581SACSc.9379A>T (p.Thr3127Ser)
c.9820A>T (p.Thr3274Ser)
c.9847A>T (p.Thr3283Ser)
c.9871A>T (p.Thr3291Ser)
c.9838A>T (p.Thr3280Ser)
c.9811A>T (p.Thr3271Ser)
c.7570A>T (p.Thr2524Ser)
n.1058-4572A>T (p.=)
n.2130-4572A>T
13g.23334056T>CCA387513582SACSc.9379A>G (p.Thr3127Ala)
c.9820A>G (p.Thr3274Ala)
c.9847A>G (p.Thr3283Ala)
c.9871A>G (p.Thr3291Ala)
c.9838A>G (p.Thr3280Ala)
c.9811A>G (p.Thr3271Ala)
c.7570A>G (p.Thr2524Ala)
n.1058-4572A>G (p.=)
n.2130-4572A>G
13g.23334056T>GCA387513583SACSc.9379A>C (p.Thr3127Pro)
c.9820A>C (p.Thr3274Pro)
c.9847A>C (p.Thr3283Pro)
c.9871A>C (p.Thr3291Pro)
c.9838A>C (p.Thr3280Pro)
c.9811A>C (p.Thr3271Pro)
c.7570A>C (p.Thr2524Pro)
n.1058-4572A>C (p.=)
n.2130-4572A>C
13g.23334057A>CCA387513584SACSc.9378T>G (p.Asp3126Glu)
c.9819T>G (p.Asp3273Glu)
c.9846T>G (p.Asp3282Glu)
c.9870T>G (p.Asp3290Glu)
c.9837T>G (p.Asp3279Glu)
c.9810T>G (p.Asp3270Glu)
c.7569T>G (p.Asp2523Glu)
n.1058-4573T>G (p.=)
n.2130-4573T>G
13g.23334057A>GCA483159507SACSc.9378T>C (p.Asp3126=)
c.9819T>C (p.Asp3273=)
c.9846T>C (p.Asp3282=)
c.9870T>C (p.Asp3290=)
c.9837T>C (p.Asp3279=)
c.9810T>C (p.Asp3270=)
c.7569T>C (p.Asp2523=)
n.1058-4573T>C (p.=)
n.2130-4573T>C
13g.23334057A>TCA387513585SACSc.9378T>A (p.Asp3126Glu)
c.9819T>A (p.Asp3273Glu)
c.9846T>A (p.Asp3282Glu)
c.9870T>A (p.Asp3290Glu)
c.9837T>A (p.Asp3279Glu)
c.9810T>A (p.Asp3270Glu)
c.7569T>A (p.Asp2523Glu)
n.1058-4573T>A (p.=)
n.2130-4573T>A
13g.23334058T>ACA387513586SACSc.9377A>T (p.Asp3126Val)
c.9818A>T (p.Asp3273Val)
c.9845A>T (p.Asp3282Val)
c.9869A>T (p.Asp3290Val)
c.9836A>T (p.Asp3279Val)
c.9809A>T (p.Asp3270Val)
c.7568A>T (p.Asp2523Val)
n.1058-4574A>T (p.=)
n.2130-4574A>T
13g.23334058T>CCA387513587SACSc.9377A>G (p.Asp3126Gly)
c.9818A>G (p.Asp3273Gly)
c.9845A>G (p.Asp3282Gly)
c.9869A>G (p.Asp3290Gly)
c.9836A>G (p.Asp3279Gly)
c.9809A>G (p.Asp3270Gly)
c.7568A>G (p.Asp2523Gly)
n.1058-4574A>G (p.=)
n.2130-4574A>G
13g.23334058T>GCA387513588SACSc.9377A>C (p.Asp3126Ala)
c.9818A>C (p.Asp3273Ala)
c.9845A>C (p.Asp3282Ala)
c.9869A>C (p.Asp3290Ala)
c.9836A>C (p.Asp3279Ala)
c.9809A>C (p.Asp3270Ala)
c.7568A>C (p.Asp2523Ala)
n.1058-4574A>C (p.=)
n.2130-4574A>C
13g.23334059C>ACA387513590SACSc.9376G>T (p.Asp3126Tyr)
c.9817G>T (p.Asp3273Tyr)
c.9844G>T (p.Asp3282Tyr)
c.9868G>T (p.Asp3290Tyr)
c.9835G>T (p.Asp3279Tyr)
c.9808G>T (p.Asp3270Tyr)
c.7567G>T (p.Asp2523Tyr)
n.1058-4575G>T (p.=)
n.2130-4575G>T
13g.23334059C>GCA387513589SACSc.9376G>C (p.Asp3126His)
c.9817G>C (p.Asp3273His)
c.9844G>C (p.Asp3282His)
c.9868G>C (p.Asp3290His)
c.9835G>C (p.Asp3279His)
c.9808G>C (p.Asp3270His)
c.7567G>C (p.Asp2523His)
n.1058-4575G>C (p.=)
n.2130-4575G>C
13g.23334059C>TCA6910559SACSc.9376G>A (p.Asp3126Asn)
c.9817G>A (p.Asp3273Asn)
c.9844G>A (p.Asp3282Asn)
c.9868G>A (p.Asp3290Asn)
c.9835G>A (p.Asp3279Asn)
c.9808G>A (p.Asp3270Asn)
c.7567G>A (p.Asp2523Asn)
n.1058-4575G>A (p.=)
n.2130-4575G>A
dbSNP ExAC gnomAD
13g.23334060A>CCA483159512SACSc.9375T>G (p.Val3125=)
c.9816T>G (p.Val3272=)
c.9843T>G (p.Val3281=)
c.9867T>G (p.Val3289=)
c.9834T>G (p.Val3278=)
c.9807T>G (p.Val3269=)
c.7566T>G (p.Val2522=)
n.1058-4576T>G (p.=)
n.2130-4576T>G
13g.23334060A>GCA483159513SACSc.9375T>C (p.Val3125=)
c.9816T>C (p.Val3272=)
c.9843T>C (p.Val3281=)
c.9867T>C (p.Val3289=)
c.9834T>C (p.Val3278=)
c.9807T>C (p.Val3269=)
c.7566T>C (p.Val2522=)
n.1058-4576T>C (p.=)
n.2130-4576T>C
gnomAD
13g.23334060A>TCA483159514SACSc.9375T>A (p.Val3125=)
c.9816T>A (p.Val3272=)
c.9843T>A (p.Val3281=)
c.9867T>A (p.Val3289=)
c.9834T>A (p.Val3278=)
c.9807T>A (p.Val3269=)
c.7566T>A (p.Val2522=)
n.1058-4576T>A (p.=)
n.2130-4576T>A
13g.23334061A>CCA6910560SACSc.9374T>G (p.Val3125Gly)
c.9815T>G (p.Val3272Gly)
c.9842T>G (p.Val3281Gly)
c.9866T>G (p.Val3289Gly)
c.9833T>G (p.Val3278Gly)
c.9806T>G (p.Val3269Gly)
c.7565T>G (p.Val2522Gly)
n.1058-4577T>G (p.=)
n.2130-4577T>G
dbSNP ExAC gnomAD

Number of alleles fetched