Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
13g.23334061A>GCA387513591SACSc.9374T>C (p.Val3125Ala)
c.9815T>C (p.Val3272Ala)
c.9842T>C (p.Val3281Ala)
c.9866T>C (p.Val3289Ala)
c.9833T>C (p.Val3278Ala)
c.9806T>C (p.Val3269Ala)
c.7565T>C (p.Val2522Ala)
n.1058-4577T>C (p.=)
n.2130-4577T>C
13g.23334061A>TCA387513592SACSc.9374T>A (p.Val3125Asp)
c.9815T>A (p.Val3272Asp)
c.9842T>A (p.Val3281Asp)
c.9866T>A (p.Val3289Asp)
c.9833T>A (p.Val3278Asp)
c.9806T>A (p.Val3269Asp)
c.7565T>A (p.Val2522Asp)
n.1058-4577T>A (p.=)
n.2130-4577T>A
13g.23334062C>ACA387513593SACSc.9373G>T (p.Val3125Phe)
c.9814G>T (p.Val3272Phe)
c.9841G>T (p.Val3281Phe)
c.9865G>T (p.Val3289Phe)
c.9832G>T (p.Val3278Phe)
c.9805G>T (p.Val3269Phe)
c.7564G>T (p.Val2522Phe)
n.1058-4578G>T (p.=)
n.2130-4578G>T
13g.23334062C>GCA387513594SACSc.9373G>C (p.Val3125Leu)
c.9814G>C (p.Val3272Leu)
c.9841G>C (p.Val3281Leu)
c.9865G>C (p.Val3289Leu)
c.9832G>C (p.Val3278Leu)
c.9805G>C (p.Val3269Leu)
c.7564G>C (p.Val2522Leu)
n.1058-4578G>C (p.=)
n.2130-4578G>C
13g.23334062C>TCA387513595SACSc.9373G>A (p.Val3125Ile)
c.9814G>A (p.Val3272Ile)
c.9841G>A (p.Val3281Ile)
c.9865G>A (p.Val3289Ile)
c.9832G>A (p.Val3278Ile)
c.9805G>A (p.Val3269Ile)
c.7564G>A (p.Val2522Ile)
n.1058-4578G>A (p.=)
n.2130-4578G>A
13g.23334063A>CCA483159519SACSc.9372T>G (p.Val3124=)
c.9813T>G (p.Val3271=)
c.9840T>G (p.Val3280=)
c.9864T>G (p.Val3288=)
c.9831T>G (p.Val3277=)
c.9804T>G (p.Val3268=)
c.7563T>G (p.Val2521=)
n.1058-4579T>G (p.=)
n.2130-4579T>G
13g.23334063A>GCA483159518SACSc.9372T>C (p.Val3124=)
c.9813T>C (p.Val3271=)
c.9840T>C (p.Val3280=)
c.9864T>C (p.Val3288=)
c.9831T>C (p.Val3277=)
c.9804T>C (p.Val3268=)
c.7563T>C (p.Val2521=)
n.1058-4579T>C (p.=)
n.2130-4579T>C
COSMIC COSMIC
13g.23334063A>TCA483159520SACSc.9372T>A (p.Val3124=)
c.9813T>A (p.Val3271=)
c.9840T>A (p.Val3280=)
c.9864T>A (p.Val3288=)
c.9831T>A (p.Val3277=)
c.9804T>A (p.Val3268=)
c.7563T>A (p.Val2521=)
n.1058-4579T>A (p.=)
n.2130-4579T>A
13g.23334064A>CCA387513596SACSc.9371T>G (p.Val3124Gly)
c.9812T>G (p.Val3271Gly)
c.9839T>G (p.Val3280Gly)
c.9863T>G (p.Val3288Gly)
c.9830T>G (p.Val3277Gly)
c.9803T>G (p.Val3268Gly)
c.7562T>G (p.Val2521Gly)
n.1058-4580T>G (p.=)
n.2130-4580T>G
13g.23334064A>GCA387513597SACSc.9371T>C (p.Val3124Ala)
c.9812T>C (p.Val3271Ala)
c.9839T>C (p.Val3280Ala)
c.9863T>C (p.Val3288Ala)
c.9830T>C (p.Val3277Ala)
c.9803T>C (p.Val3268Ala)
c.7562T>C (p.Val2521Ala)
n.1058-4580T>C (p.=)
n.2130-4580T>C
13g.23334064A>TCA387513598SACSc.9371T>A (p.Val3124Asp)
c.9812T>A (p.Val3271Asp)
c.9839T>A (p.Val3280Asp)
c.9863T>A (p.Val3288Asp)
c.9830T>A (p.Val3277Asp)
c.9803T>A (p.Val3268Asp)
c.7562T>A (p.Val2521Asp)
n.1058-4580T>A (p.=)
n.2130-4580T>A
13g.23334065C>ACA387513599SACSc.9370G>T (p.Val3124Phe)
c.9811G>T (p.Val3271Phe)
c.9838G>T (p.Val3280Phe)
c.9862G>T (p.Val3288Phe)
c.9829G>T (p.Val3277Phe)
c.9802G>T (p.Val3268Phe)
c.7561G>T (p.Val2521Phe)
n.1058-4581G>T (p.=)
n.2130-4581G>T
13g.23334065C>GCA387513600SACSc.9370G>C (p.Val3124Leu)
c.9811G>C (p.Val3271Leu)
c.9838G>C (p.Val3280Leu)
c.9862G>C (p.Val3288Leu)
c.9829G>C (p.Val3277Leu)
c.9802G>C (p.Val3268Leu)
c.7561G>C (p.Val2521Leu)
n.1058-4581G>C (p.=)
n.2130-4581G>C
13g.23334065C>TCA387513601SACSc.9370G>A (p.Val3124Ile)
c.9811G>A (p.Val3271Ile)
c.9838G>A (p.Val3280Ile)
c.9862G>A (p.Val3288Ile)
c.9829G>A (p.Val3277Ile)
c.9802G>A (p.Val3268Ile)
c.7561G>A (p.Val2521Ile)
n.1058-4581G>A (p.=)
n.2130-4581G>A
13g.23334066A>CCA387513602SACSc.9369T>G (p.Ile3123Met)
c.9810T>G (p.Ile3270Met)
c.9837T>G (p.Ile3279Met)
c.9861T>G (p.Ile3287Met)
c.9828T>G (p.Ile3276Met)
c.9801T>G (p.Ile3267Met)
c.7560T>G (p.Ile2520Met)
n.1058-4582T>G (p.=)
n.2130-4582T>G
13g.23334066A>GCA483159521SACSc.9369T>C (p.Ile3123=)
c.9810T>C (p.Ile3270=)
c.9837T>C (p.Ile3279=)
c.9861T>C (p.Ile3287=)
c.9828T>C (p.Ile3276=)
c.9801T>C (p.Ile3267=)
c.7560T>C (p.Ile2520=)
n.1058-4582T>C (p.=)
n.2130-4582T>C
13g.23334066A>TCA483159522SACSc.9369T>A (p.Ile3123=)
c.9810T>A (p.Ile3270=)
c.9837T>A (p.Ile3279=)
c.9861T>A (p.Ile3287=)
c.9828T>A (p.Ile3276=)
c.9801T>A (p.Ile3267=)
c.7560T>A (p.Ile2520=)
n.1058-4582T>A (p.=)
n.2130-4582T>A
13g.23334067A>CCA387513604SACSc.9368T>G (p.Ile3123Ser)
c.9809T>G (p.Ile3270Ser)
c.9836T>G (p.Ile3279Ser)
c.9860T>G (p.Ile3287Ser)
c.9827T>G (p.Ile3276Ser)
c.9800T>G (p.Ile3267Ser)
c.7559T>G (p.Ile2520Ser)
n.1058-4583T>G (p.=)
n.2130-4583T>G
13g.23334067A>GCA387513605SACSc.9368T>C (p.Ile3123Thr)
c.9809T>C (p.Ile3270Thr)
c.9836T>C (p.Ile3279Thr)
c.9860T>C (p.Ile3287Thr)
c.9827T>C (p.Ile3276Thr)
c.9800T>C (p.Ile3267Thr)
c.7559T>C (p.Ile2520Thr)
n.1058-4583T>C (p.=)
n.2130-4583T>C
13g.23334067A>TCA387513603SACSc.9368T>A (p.Ile3123Asn)
c.9809T>A (p.Ile3270Asn)
c.9836T>A (p.Ile3279Asn)
c.9860T>A (p.Ile3287Asn)
c.9827T>A (p.Ile3276Asn)
c.9800T>A (p.Ile3267Asn)
c.7559T>A (p.Ile2520Asn)
n.1058-4583T>A (p.=)
n.2130-4583T>A
13g.23334068T>ACA387513606SACSc.9367A>T (p.Ile3123Phe)
c.9808A>T (p.Ile3270Phe)
c.9835A>T (p.Ile3279Phe)
c.9859A>T (p.Ile3287Phe)
c.9826A>T (p.Ile3276Phe)
c.9799A>T (p.Ile3267Phe)
c.7558A>T (p.Ile2520Phe)
n.1058-4584A>T (p.=)
n.2130-4584A>T
13g.23334068T>CCA387513607SACSc.9367A>G (p.Ile3123Val)
c.9808A>G (p.Ile3270Val)
c.9835A>G (p.Ile3279Val)
c.9859A>G (p.Ile3287Val)
c.9826A>G (p.Ile3276Val)
c.9799A>G (p.Ile3267Val)
c.7558A>G (p.Ile2520Val)
n.1058-4584A>G (p.=)
n.2130-4584A>G
13g.23334068T>GCA387513608SACSc.9367A>C (p.Ile3123Leu)
c.9808A>C (p.Ile3270Leu)
c.9835A>C (p.Ile3279Leu)
c.9859A>C (p.Ile3287Leu)
c.9826A>C (p.Ile3276Leu)
c.9799A>C (p.Ile3267Leu)
c.7558A>C (p.Ile2520Leu)
n.1058-4584A>C (p.=)
n.2130-4584A>C
13g.23334069G>ACA483159524SACSc.9366C>T (p.Asp3122=)
c.9807C>T (p.Asp3269=)
c.9834C>T (p.Asp3278=)
c.9858C>T (p.Asp3286=)
c.9825C>T (p.Asp3275=)
c.9798C>T (p.Asp3266=)
c.7557C>T (p.Asp2519=)
n.1058-4585C>T (p.=)
n.2130-4585C>T
gnomAD
13g.23334069G>CCA387513609SACSc.9366C>G (p.Asp3122Glu)
c.9807C>G (p.Asp3269Glu)
c.9834C>G (p.Asp3278Glu)
c.9858C>G (p.Asp3286Glu)
c.9825C>G (p.Asp3275Glu)
c.9798C>G (p.Asp3266Glu)
c.7557C>G (p.Asp2519Glu)
n.1058-4585C>G (p.=)
n.2130-4585C>G
13g.23334069G>TCA387513610SACSc.9366C>A (p.Asp3122Glu)
c.9807C>A (p.Asp3269Glu)
c.9834C>A (p.Asp3278Glu)
c.9858C>A (p.Asp3286Glu)
c.9825C>A (p.Asp3275Glu)
c.9798C>A (p.Asp3266Glu)
c.7557C>A (p.Asp2519Glu)
n.1058-4585C>A (p.=)
n.2130-4585C>A
13g.23334070T>ACA387513611SACSc.9365A>T (p.Asp3122Val)
c.9806A>T (p.Asp3269Val)
c.9833A>T (p.Asp3278Val)
c.9857A>T (p.Asp3286Val)
c.9824A>T (p.Asp3275Val)
c.9797A>T (p.Asp3266Val)
c.7556A>T (p.Asp2519Val)
n.1058-4586A>T (p.=)
n.2130-4586A>T

Number of alleles fetched