Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.50930592C>A | CA609909487 | RNASEH2B | c.245-91C>A (p.=) c.227-91C>A (p.=) c.83-91C>A (p.=) c.-369-91C>A (p.=) n.43-91C>A n.256-91C>A | gnomAD |
13 | g.50930593A>G | CA249996725 | RNASEH2B | c.245-90A>G (p.=) c.227-90A>G (p.=) c.83-90A>G (p.=) c.-369-90A>G (p.=) n.43-90A>G n.256-90A>G | dbSNP |
13 | g.50930598T>A | CA698822826 | RNASEH2B | c.245-85T>A (p.=) c.227-85T>A (p.=) c.83-85T>A (p.=) c.-369-85T>A (p.=) n.43-85T>A n.256-85T>A | |
13 | g.50930598T>C | CA249996726 | RNASEH2B | c.245-85T>C (p.=) c.227-85T>C (p.=) c.83-85T>C (p.=) c.-369-85T>C (p.=) n.43-85T>C n.256-85T>C | dbSNP |
13 | g.50930618A>C | CA698822827 | RNASEH2B | c.245-65A>C (p.=) c.227-65A>C (p.=) c.83-65A>C (p.=) c.-369-65A>C (p.=) n.43-65A>C n.256-65A>C | |
13 | g.50930624A>G | CA609909488 | RNASEH2B | c.245-59A>G (p.=) c.227-59A>G (p.=) c.83-59A>G (p.=) c.-369-59A>G (p.=) n.43-59A>G n.256-59A>G | gnomAD |
13 | g.50930625A>G | CA698822830 | RNASEH2B | c.245-58A>G (p.=) c.227-58A>G (p.=) c.83-58A>G (p.=) c.-369-58A>G (p.=) n.43-58A>G n.256-58A>G | |
13 | g.50930630C>T | CA698822834 | RNASEH2B | c.245-53C>T (p.=) c.227-53C>T (p.=) c.83-53C>T (p.=) c.-369-53C>T (p.=) n.43-53C>T n.256-53C>T | |
13 | g.50930631A>G | CA698822838 | RNASEH2B | c.245-52A>G (p.=) c.227-52A>G (p.=) c.83-52A>G (p.=) c.-369-52A>G (p.=) n.43-52A>G n.256-52A>G | |
13 | g.50930632C>T | CA698822843 | RNASEH2B | c.245-51C>T (p.=) c.227-51C>T (p.=) c.83-51C>T (p.=) c.-369-51C>T (p.=) n.43-51C>T n.256-51C>T | |
13 | g.50930635T>G | CA6985503 | RNASEH2B | c.245-48T>G (p.=) c.227-48T>G (p.=) c.83-48T>G (p.=) c.-369-48T>G (p.=) n.43-48T>G n.256-48T>G | dbSNP ExAC gnomAD |
13 | g.50930636G>A | CA6985504 | RNASEH2B | c.245-47G>A (p.=) c.227-47G>A (p.=) c.83-47G>A (p.=) c.-369-47G>A (p.=) n.43-47G>A n.256-47G>A | dbSNP ExAC gnomAD |
13 | g.50930639T>C | CA249996727 | RNASEH2B | c.245-44T>C (p.=) c.227-44T>C (p.=) c.83-44T>C (p.=) c.-369-44T>C (p.=) n.43-44T>C n.256-44T>C | dbSNP |
13 | g.50930646_50930647del | CA609909490 | RNASEH2B | c.245-37_245-36del (p.=) c.227-37_227-36del (p.=) c.83-37_83-36del (p.=) c.-369-37_-369-36del (p.=) n.43-37_43-36del n.256-37_256-36del | gnomAD |
13 | g.50930645_50930646insTGT | CA698822848 | RNASEH2B | c.245-38_245-37insTGT (p.=) c.227-38_227-37insTGT (p.=) c.83-38_83-37insTGT (p.=) c.-369-38_-369-37insTGT (p.=) n.43-38_43-37insTGT n.256-38_256-37insTGT | |
13 | g.50930647A>G | CA249996728 | RNASEH2B | c.245-36A>G (p.=) c.227-36A>G (p.=) c.83-36A>G (p.=) c.-369-36A>G (p.=) n.43-36A>G n.256-36A>G | dbSNP |
13 | g.50930648del | CA698822852 | RNASEH2B | c.245-35del (p.=) c.227-35del (p.=) c.83-35del (p.=) c.-369-35del (p.=) n.43-35del n.256-35del | |
13 | g.50930648C>G | CA6985506 | RNASEH2B | c.245-35C>G (p.=) c.227-35C>G (p.=) c.83-35C>G (p.=) c.-369-35C>G (p.=) n.43-35C>G n.256-35C>G | dbSNP ExAC gnomAD |
13 | g.50930648C>T | CA6985505 | RNASEH2B | c.245-35C>T (p.=) c.227-35C>T (p.=) c.83-35C>T (p.=) c.-369-35C>T (p.=) n.43-35C>T n.256-35C>T | dbSNP ExAC gnomAD |
13 | g.50930649G>A | CA6985507 | RNASEH2B | c.245-34G>A (p.=) c.227-34G>A (p.=) c.83-34G>A (p.=) c.-369-34G>A (p.=) n.43-34G>A n.256-34G>A | dbSNP ExAC gnomAD |
13 | g.50930649G>T | CA249996729 | RNASEH2B | c.245-34G>T (p.=) c.227-34G>T (p.=) c.83-34G>T (p.=) c.-369-34G>T (p.=) n.43-34G>T n.256-34G>T | dbSNP |
13 | g.50930650T>A | CA249996730 | RNASEH2B | c.245-33T>A (p.=) c.227-33T>A (p.=) c.83-33T>A (p.=) c.-369-33T>A (p.=) n.43-33T>A n.256-33T>A | dbSNP |
13 | g.50930650_50930651insGGCTA | CA609909492 | RNASEH2B | c.245-33_245-32insGGCTA (p.=) c.227-33_227-32insGGCTA (p.=) c.83-33_83-32insGGCTA (p.=) c.-369-33_-369-32insGGCTA (p.=) n.43-33_43-32insGGCTA n.256-33_256-32insGGCTA | gnomAD |
13 | g.50930654A>G | CA6985509 | RNASEH2B | c.245-29A>G (p.=) c.227-29A>G (p.=) c.83-29A>G (p.=) c.-369-29A>G (p.=) n.43-29A>G n.256-29A>G | dbSNP ExAC gnomAD |
13 | g.50930656dup | CA6985508 | RNASEH2B | c.245-27dup (p.=) c.227-27dup (p.=) c.83-27dup (p.=) c.-369-27dup (p.=) n.43-27dup n.256-27dup | dbSNP ExAC gnomAD |
13 | g.50930659C>T | CA6985510 | RNASEH2B | c.245-24C>T (p.=) c.227-24C>T (p.=) c.83-24C>T (p.=) c.-369-24C>T (p.=) n.43-24C>T n.256-24C>T | dbSNP ExAC gnomAD |
13 | g.50930662C>T | CA249996731 | RNASEH2B | c.245-21C>T (p.=) c.227-21C>T (p.=) c.83-21C>T (p.=) c.-369-21C>T (p.=) n.43-21C>T n.256-21C>T | dbSNP |
13 | g.50930663A>C | CA609909497 | RNASEH2B | c.245-20A>C (p.=) c.227-20A>C (p.=) c.83-20A>C (p.=) c.-369-20A>C (p.=) n.43-20A>C n.256-20A>C | gnomAD |
13 | g.50930663A>T | CA609909498 | RNASEH2B | c.245-20A>T (p.=) c.227-20A>T (p.=) c.83-20A>T (p.=) c.-369-20A>T (p.=) n.43-20A>T n.256-20A>T | gnomAD |
13 | g.50930665C>T | CA698822860 | RNASEH2B | c.245-18C>T (p.=) c.227-18C>T (p.=) c.83-18C>T (p.=) c.-369-18C>T (p.=) n.43-18C>T n.256-18C>T | |
13 | g.50930671T>G | CA249996732 | RNASEH2B | c.245-12T>G (p.=) c.227-12T>G (p.=) c.83-12T>G (p.=) c.-369-12T>G (p.=) n.43-12T>G n.256-12T>G | dbSNP |
13 | g.50930674A>G | CA6985511 | RNASEH2B | c.245-9A>G (p.=) c.227-9A>G (p.=) c.83-9A>G (p.=) c.-369-9A>G (p.=) n.43-9A>G n.256-9A>G | dbSNP ExAC gnomAD |
13 | g.50930675A>G | CA16042922 | RNASEH2B | c.245-8A>G (p.=) c.227-8A>G (p.=) c.83-8A>G (p.=) c.-369-8A>G (p.=) n.43-8A>G n.256-8A>G | ClinVar dbSNP |
13 | g.50930678T>C | CA6985512 | RNASEH2B | c.245-5T>C (p.=) c.227-5T>C (p.=) c.83-5T>C (p.=) c.-369-5T>C (p.=) n.43-5T>C n.256-5T>C | dbSNP ExAC gnomAD |
13 | g.50930681A>C | CA388258915 | RNASEH2B | c.245-2A>C (p.=) c.227-2A>C (p.=) c.83-2A>C (p.=) c.-369-2A>C (p.=) n.43-2A>C n.256-2A>C | |
13 | g.50930681A>G | CA388258916 | RNASEH2B | c.245-2A>G (p.=) c.227-2A>G (p.=) c.83-2A>G (p.=) c.-369-2A>G (p.=) n.43-2A>G n.256-2A>G | |
13 | g.50930681A>T | CA388258917 | RNASEH2B | c.245-2A>T (p.=) c.227-2A>T (p.=) c.83-2A>T (p.=) c.-369-2A>T (p.=) n.43-2A>T n.256-2A>T | |
13 | g.50930682G>A | CA388258920 | RNASEH2B | c.245-1G>A (p.=) c.227-1G>A (p.=) c.83-1G>A (p.=) c.-369-1G>A (p.=) n.43-1G>A n.256-1G>A | |
13 | g.50930682G>C | CA388258919 | RNASEH2B | c.245-1G>C (p.=) c.227-1G>C (p.=) c.83-1G>C (p.=) c.-369-1G>C (p.=) n.43-1G>C n.256-1G>C | |
13 | g.50930682G>T | CA388258918 | RNASEH2B | c.245-1G>T (p.=) c.227-1G>T (p.=) c.83-1G>T (p.=) c.-369-1G>T (p.=) n.43-1G>T n.256-1G>T | |
13 | g.50930683G>A | CA388258921 | RNASEH2B | c.245G>A (p.Gly82Glu) c.227G>A (p.Gly76Glu) c.83G>A (p.Gly28Glu) c.-369G>A (p.=) n.43G>A n.256G>A | |
13 | g.50930683G>C | CA388258922 | RNASEH2B | c.245G>C (p.Gly82Ala) c.227G>C (p.Gly76Ala) c.83G>C (p.Gly28Ala) c.-369G>C (p.=) n.43G>C n.256G>C | |
13 | g.50930683G>T | CA388258923 | RNASEH2B | c.245G>T (p.Gly82Val) c.227G>T (p.Gly76Val) c.83G>T (p.Gly28Val) c.-369G>T (p.=) n.43G>T n.256G>T | |
13 | g.50930684A>C | CA483839485 | RNASEH2B | c.246A>C (p.Gly82=) c.228A>C (p.Gly76=) c.84A>C (p.Gly28=) c.-368A>C (p.=) n.44A>C n.257A>C | |
13 | g.50930684A>G | CA483839486 | RNASEH2B | c.246A>G (p.Gly82=) c.228A>G (p.Gly76=) c.84A>G (p.Gly28=) c.-368A>G (p.=) n.44A>G n.257A>G | |
13 | g.50930684A>T | CA483839487 | RNASEH2B | c.246A>T (p.Gly82=) c.228A>T (p.Gly76=) c.84A>T (p.Gly28=) c.-368A>T (p.=) n.44A>T n.257A>T | |
13 | g.50930685G>A | CA249996733 | RNASEH2B | c.247G>A (p.Gly83Ser) c.229G>A (p.Gly77Ser) c.85G>A (p.Gly29Ser) c.-367G>A (p.=) n.45G>A n.258G>A | dbSNP |
13 | g.50930685G>C | CA388258924 | RNASEH2B | c.247G>C (p.Gly83Arg) c.229G>C (p.Gly77Arg) c.85G>C (p.Gly29Arg) c.-367G>C (p.=) n.45G>C n.258G>C | |
13 | g.50930685G>T | CA388258925 | RNASEH2B | c.247G>T (p.Gly83Cys) c.229G>T (p.Gly77Cys) c.85G>T (p.Gly29Cys) c.-367G>T (p.=) n.45G>T n.258G>T | |
13 | g.50930686G>A | CA388258926 | RNASEH2B | c.248G>A (p.Gly83Asp) c.230G>A (p.Gly77Asp) c.86G>A (p.Gly29Asp) c.-366G>A (p.=) n.46G>A n.259G>A |