Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.73683224G>A | CA367827502 | BUD23,DNAJC30 | c.200C>T (p.Ala67Val) n.200G>A | gnomAD v4 |
7 | g.73683224G>C | CA367827503 | BUD23,DNAJC30 | c.200C>G (p.Ala67Gly) n.200G>C | |
7 | g.73683224G>T | CA367827505 | BUD23,DNAJC30 | c.200C>A (p.Ala67Glu) n.200G>T | |
7 | g.73683225C>A | CA367827507 | BUD23,DNAJC30 | c.199G>T (p.Ala67Ser) n.201C>A | |
7 | g.73683225C= | CA1717166381 | BUD23,DNAJC30 | c.199G= (p.Ala67=) n.201C= | |
7 | g.73683225C>G | CA367827509 | BUD23,DNAJC30 | c.199G>C (p.Ala67Pro) n.201C>G | |
7 | g.73683225C>T | CA4289979 | BUD23,DNAJC30 | c.199G>A (p.Ala67Thr) n.201C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683226C>A | CA367827512 | BUD23,DNAJC30 | c.198G>T (p.Lys66Asn) n.202C>A | gnomAD v4 |
7 | g.73683226C>G | CA367827513 | BUD23,DNAJC30 | c.198G>C (p.Lys66Asn) n.202C>G | |
7 | g.73683226C>T | CA456052756 | BUD23,DNAJC30 | c.198G>A (p.Lys66=) n.202C>T | |
7 | g.73683227T>A | CA367827517 | BUD23,DNAJC30 | c.197A>T (p.Lys66Met) n.203T>A | |
7 | g.73683227T>C | CA367827515 | BUD23,DNAJC30 | c.197A>G (p.Lys66Arg) n.203T>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683227T>G | CA4289980 | BUD23,DNAJC30 | c.197A>C (p.Lys66Thr) n.203T>G | dbSNP ExAC gnomAD v4 |
7 | g.73683227T= | CA1717166382 | BUD23,DNAJC30 | c.197A= (p.Lys66=) n.203T= | |
7 | g.73683228T>A | CA367827519 | BUD23,DNAJC30 | c.196A>T (p.Lys66Ter) n.204T>A | |
7 | g.73683228T>C | CA367827521 | BUD23,DNAJC30 | c.196A>G (p.Lys66Glu) n.204T>C | gnomAD v4 |
7 | g.73683228T>G | CA367827524 | BUD23,DNAJC30 | c.196A>C (p.Lys66Gln) n.204T>G | |
7 | g.73683229G>A | CA456052761 | BUD23,DNAJC30 | c.195C>T (p.Ile65=) n.205G>A | gnomAD v4 |
7 | g.73683229G>C | CA367827526 | BUD23,DNAJC30 | c.195C>G (p.Ile65Met) n.205G>C | |
7 | g.73683229G>T | CA456052760 | BUD23,DNAJC30 | c.195C>A (p.Ile65=) n.205G>T | |
7 | g.73683230A>C | CA367827530 | BUD23,DNAJC30 | c.194T>G (p.Ile65Ser) n.206A>C | |
7 | g.73683230A>G | CA367827531 | BUD23,DNAJC30 | c.194T>C (p.Ile65Thr) n.206A>G | |
7 | g.73683230A>T | CA367827532 | BUD23,DNAJC30 | c.194T>A (p.Ile65Asn) n.206A>T | |
7 | g.73683231T>A | CA367827535 | BUD23,DNAJC30 | c.193A>T (p.Ile65Phe) n.207T>A | |
7 | g.73683231T>C | CA367827537 | BUD23,DNAJC30 | c.193A>G (p.Ile65Val) n.207T>C | dbSNP |
7 | g.73683231T>G | CA367827538 | BUD23,DNAJC30 | c.193A>C (p.Ile65Leu) n.207T>G | |
7 | g.73683231T= | CA1717166383 | BUD23,DNAJC30 | c.193A= (p.Ile65=) n.207T= | |
7 | g.73683232T>A | CA367827542 | BUD23,DNAJC30 | c.192A>T (p.Gln64His) n.208T>A | |
7 | g.73683232T>C | CA456052767 | BUD23,DNAJC30 | c.192A>G (p.Gln64=) n.208T>C | |
7 | g.73683232T>G | CA367827544 | BUD23,DNAJC30 | c.192A>C (p.Gln64His) n.208T>G | |
7 | g.73683233T>A | CA367827553 | BUD23,DNAJC30 | c.191A>T (p.Gln64Leu) n.209T>A | |
7 | g.73683233T>C | CA367827551 | BUD23,DNAJC30 | c.191A>G (p.Gln64Arg) n.209T>C | |
7 | g.73683233T>G | CA367827548 | BUD23,DNAJC30 | c.191A>C (p.Gln64Pro) n.209T>G | |
7 | g.73683234G>A | CA367827557 | BUD23,DNAJC30 | c.190C>T (p.Gln64Ter) n.210G>A | |
7 | g.73683234G>C | CA367827561 | BUD23,DNAJC30 | c.190C>G (p.Gln64Glu) n.210G>C | |
7 | g.73683234G>T | CA367827559 | BUD23,DNAJC30 | c.190C>A (p.Gln64Lys) n.210G>T | |
7 | g.73683235G>A | CA456052774 | BUD23,DNAJC30 | c.189C>T (p.Ala63=) n.211G>A | |
7 | g.73683235G>C | CA456052773 | BUD23,DNAJC30 | c.189C>G (p.Ala63=) n.211G>C | |
7 | g.73683235G>T | CA456052772 | BUD23,DNAJC30 | c.189C>A (p.Ala63=) n.211G>T | gnomAD v4 |
7 | g.73683236G>A | CA367827565 | BUD23,DNAJC30 | c.188C>T (p.Ala63Val) n.212G>A | |
7 | g.73683236G>C | CA367827568 | BUD23,DNAJC30 | c.188C>G (p.Ala63Gly) n.212G>C | |
7 | g.73683236G>T | CA367827571 | BUD23,DNAJC30 | c.188C>A (p.Ala63Asp) n.212G>T | |
7 | g.73683237C>A | CA367827577 | BUD23,DNAJC30 | c.187G>T (p.Ala63Ser) n.213C>A | gnomAD v4 |
7 | g.73683237C= | CA1717166384 | BUD23,DNAJC30 | c.187G= (p.Ala63=) n.213C= | |
7 | g.73683237C>G | CA367827580 | BUD23,DNAJC30 | c.187G>C (p.Ala63Pro) n.213C>G | |
7 | g.73683237C>T | CA4289981 | BUD23,DNAJC30 | c.187G>A (p.Ala63Thr) n.213C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683238C>A | CA367827586 | BUD23,DNAJC30 | c.186G>T (p.Gln62His) n.214C>A | |
7 | g.73683238C= | CA1717166385 | BUD23,DNAJC30 | c.186G= (p.Gln62=) n.214C= | |
7 | g.73683238C>G | CA367827589 | BUD23,DNAJC30 | c.186G>C (p.Gln62His) n.214C>G | |
7 | g.73683238C>T | CA4289982 | BUD23,DNAJC30 | c.186G>A (p.Gln62=) n.214C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |