Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.73683350_73683364delinsTGTGGAAAGCCACGG | CA1717166440 | BUD23,DNAJC30 | c.60_74delinsCCGTGGCTTTCCACA (p.Ala20=) n.326_340delinsTGTGGAAAGCCACGG | |
7 | g.73683352_73683365del | CA842010822 | BUD23,DNAJC30 | c.60_73del (p.Arg21LysfsTer27) n.328_341del | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683360C>A | CA367828311 | BUD23,DNAJC30 | c.64G>T (p.Gly22Cys) n.336C>A | |
7 | g.73683360C>G | CA367828314 | BUD23,DNAJC30 | c.64G>C (p.Gly22Arg) n.336C>G | |
7 | g.73683360C>T | CA367828317 | BUD23,DNAJC30 | c.64G>A (p.Gly22Ser) n.336C>T | gnomAD v4 |
7 | g.73683361A>C | CA456053037 | BUD23,DNAJC30 | c.63T>G (p.Arg21=) n.337A>C | |
7 | g.73683361A>G | CA456053035 | BUD23,DNAJC30 | c.63T>C (p.Arg21=) n.337A>G | |
7 | g.73683361A>T | CA456053036 | BUD23,DNAJC30 | c.63T>A (p.Arg21=) n.337A>T | |
7 | g.73683362C>A | CA367828320 | BUD23,DNAJC30 | c.62G>T (p.Arg21Leu) n.338C>A | gnomAD v4 |
7 | g.73683362C>G | CA367828322 | BUD23,DNAJC30 | c.62G>C (p.Arg21Pro) n.338C>G | |
7 | g.73683362C>T | CA367828324 | BUD23,DNAJC30 | c.62G>A (p.Arg21His) n.338C>T | gnomAD v4 |
7 | g.73683363G>A | CA4290015 | BUD23,DNAJC30 | c.61C>T (p.Arg21Cys) n.339G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683363G>C | CA367828329 | BUD23,DNAJC30 | c.61C>G (p.Arg21Gly) n.339G>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683363G= | CA1717166446 | BUD23,DNAJC30 | c.61C= (p.Arg21=) n.339G= | |
7 | g.73683363G>T | CA367828332 | BUD23,DNAJC30 | c.61C>A (p.Arg21Ser) n.339G>T | gnomAD v4 |
7 | g.73683365del | CA2683240504 | BUD23,DNAJC30 | c.61del (p.Arg21ValfsTer13) n.341del | gnomAD v4 |
7 | g.73683364G>A | CA456053041 | BUD23,DNAJC30 | c.60C>T (p.Ala20=) n.340G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683364G>C | CA456053039 | BUD23,DNAJC30 | c.60C>G (p.Ala20=) n.340G>C | gnomAD v4 |
7 | g.73683364G= | CA1717166447 | BUD23,DNAJC30 | c.60C= (p.Ala20=) n.340G= | |
7 | g.73683364G>T | CA456053042 | BUD23,DNAJC30 | c.60C>A (p.Ala20=) n.340G>T | |
7 | g.73683365G>A | CA4290016 | BUD23,DNAJC30 | c.59C>T (p.Ala20Val) n.341G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683365G>C | CA367828337 | BUD23,DNAJC30 | c.59C>G (p.Ala20Gly) n.341G>C | |
7 | g.73683365G= | CA1717166448 | BUD23,DNAJC30 | c.59C= (p.Ala20=) n.341G= | |
7 | g.73683365G>T | CA367828334 | BUD23,DNAJC30 | c.59C>A (p.Ala20Asp) n.341G>T | gnomAD v4 |
7 | g.73683366C>A | CA367828340 | BUD23,DNAJC30 | c.58G>T (p.Ala20Ser) n.342C>A | |
7 | g.73683366C>G | CA367828342 | BUD23,DNAJC30 | c.58G>C (p.Ala20Pro) n.342C>G | |
7 | g.73683366C>T | CA367828344 | BUD23,DNAJC30 | c.58G>A (p.Ala20Thr) n.342C>T | dbSNP |
7 | g.73683367C>A | CA367828354 | BUD23,DNAJC30 | c.57G>T (p.Gln19His) n.343C>A | |
7 | g.73683367C>G | CA367828356 | BUD23,DNAJC30 | c.57G>C (p.Gln19His) n.343C>G | |
7 | g.73683367C>T | CA456053043 | BUD23,DNAJC30 | c.57G>A (p.Gln19=) n.343C>T | |
7 | g.73683368T>A | CA367828365 | BUD23,DNAJC30 | c.56A>T (p.Gln19Leu) n.344T>A | |
7 | g.73683368T>C | CA367828359 | BUD23,DNAJC30 | c.56A>G (p.Gln19Arg) n.344T>C | gnomAD v4 |
7 | g.73683368T>G | CA367828362 | BUD23,DNAJC30 | c.56A>C (p.Gln19Pro) n.344T>G | |
7 | g.73683369G>A | CA4290017 | BUD23,DNAJC30 | c.55C>T (p.Gln19Ter) n.345G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683369G>C | CA367828369 | BUD23,DNAJC30 | c.55C>G (p.Gln19Glu) n.345G>C | |
7 | g.73683369G= | CA1717166449 | BUD23,DNAJC30 | c.55C= (p.Gln19=) n.345G= | |
7 | g.73683369G>T | CA367828373 | BUD23,DNAJC30 | c.55C>A (p.Gln19Lys) n.345G>T | |
7 | g.73683370C>A | CA456053047 | BUD23,DNAJC30 | c.54G>T (p.Leu18=) n.346C>A | |
7 | g.73683370C>G | CA456053046 | BUD23,DNAJC30 | c.54G>C (p.Leu18=) n.346C>G | |
7 | g.73683370C>T | CA456053045 | BUD23,DNAJC30 | c.54G>A (p.Leu18=) n.346C>T | gnomAD v4 |
7 | g.73683371A= | CA1717166450 | BUD23,DNAJC30 | c.53T= (p.Leu18=) n.347A= | |
7 | g.73683371A>C | CA367828376 | BUD23,DNAJC30 | c.53T>G (p.Leu18Arg) n.347A>C | |
7 | g.73683371A>G | CA4290018 | BUD23,DNAJC30 | c.53T>C (p.Leu18Pro) n.347A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683371A>T | CA160072733 | BUD23,DNAJC30 | c.53T>A (p.Leu18Gln) n.347A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683372G>A | CA456053051 | BUD23,DNAJC30 | c.52C>T (p.Leu18=) n.348G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683372G>C | CA367828384 | BUD23,DNAJC30 | c.52C>G (p.Leu18Val) n.348G>C | |
7 | g.73683372G= | CA1717166451 | BUD23,DNAJC30 | c.52C= (p.Leu18=) n.348G= | |
7 | g.73683372G>T | CA367828387 | BUD23,DNAJC30 | c.52C>A (p.Leu18Met) n.348G>T | |
7 | g.73683373C>A | CA367828389 | BUD23,DNAJC30 | c.51G>T (p.Leu17Phe) n.349C>A | |
7 | g.73683373C>G | CA367828397 | BUD23,DNAJC30 | c.51G>C (p.Leu17Phe) n.349C>G | |
7 | g.73683373C>T | CA456053052 | BUD23,DNAJC30 | c.51G>A (p.Leu17=) n.349C>T | |
7 | g.73683374A>C | CA367828400 | BUD23,DNAJC30 | c.50T>G (p.Leu17Trp) n.350A>C | |
7 | g.73683374A>G | CA367828402 | BUD23,DNAJC30 | c.50T>C (p.Leu17Ser) n.350A>G | |
7 | g.73683374A>T | CA367828403 | BUD23,DNAJC30 | c.50T>A (p.Leu17Ter) n.350A>T | gnomAD v4 |
7 | g.73683375A>C | CA367828406 | BUD23,DNAJC30 | c.49T>G (p.Leu17Val) n.351A>C | |
7 | g.73683375A>G | CA456053056 | BUD23,DNAJC30 | c.49T>C (p.Leu17=) n.351A>G | |
7 | g.73683375A>T | CA367828409 | BUD23,DNAJC30 | c.49T>A (p.Leu17Met) n.351A>T | |
7 | g.73683376C>A | CA367828411 | BUD23,DNAJC30 | c.48G>T (p.Arg16Ser) n.352C>A | |
7 | g.73683376C>G | CA367828413 | BUD23,DNAJC30 | c.48G>C (p.Arg16Ser) n.352C>G | |
7 | g.73683376C>T | CA456053057 | BUD23,DNAJC30 | c.48G>A (p.Arg16=) n.352C>T | gnomAD v4 |
7 | g.73683377C>A | CA160072740 | BUD23,DNAJC30 | c.47G>T (p.Arg16Met) n.353C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683377C= | CA1717166452 | BUD23,DNAJC30 | c.47G= (p.Arg16=) n.353C= | |
7 | g.73683377C>G | CA367828417 | BUD23,DNAJC30 | c.47G>C (p.Arg16Thr) n.353C>G | |
7 | g.73683377C>T | CA367828419 | BUD23,DNAJC30 | c.47G>A (p.Arg16Lys) n.353C>T | |
7 | g.73683378T>A | CA367828425 | BUD23,DNAJC30 | c.46A>T (p.Arg16Trp) n.354T>A | |
7 | g.73683378T>C | CA367828428 | BUD23,DNAJC30 | c.46A>G (p.Arg16Gly) n.354T>C | |
7 | g.73683378T>G | CA456053061 | BUD23,DNAJC30 | c.46A>C (p.Arg16=) n.354T>G | dbSNP gnomAD v4 |
7 | g.73683378T= | CA1717166453 | BUD23,DNAJC30 | c.46A= (p.Arg16=) n.354T= | |
7 | g.73683378_73683389del | CA575783464 | BUD23,DNAJC30 | c.35_46del (p.Leu12_Trp15del) n.354_359+6del | gnomAD v2 |
7 | g.73683379C>A | CA367828436 | BUD23,DNAJC30 | c.45G>T (p.Trp15Cys) n.355C>A | |
7 | g.73683379C= | CA1717166454 | BUD23,DNAJC30 | c.45G= (p.Trp15=) n.355C= | |
7 | g.73683379C>G | CA4290019 | BUD23,DNAJC30 | c.45G>C (p.Trp15Cys) n.355C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683379C>T | CA367828432 | BUD23,DNAJC30 | c.45G>A (p.Trp15Ter) n.355C>T | |
7 | g.73683380C>A | CA367828440 | BUD23,DNAJC30 | c.44G>T (p.Trp15Leu) n.356C>A | |
7 | g.73683380C= | CA1717166455 | BUD23,DNAJC30 | c.44G= (p.Trp15=) n.356C= | |
7 | g.73683380C>G | CA367828442 | BUD23,DNAJC30 | c.44G>C (p.Trp15Ser) n.356C>G | |
7 | g.73683380C>T | CA160072752 | BUD23,DNAJC30 | c.44G>A (p.Trp15Ter) n.356C>T | dbSNP gnomAD v4 |
7 | g.73683381A= | CA1717166456 | BUD23,DNAJC30 | c.43T= (p.Trp15=) n.357A= | |
7 | g.73683381A>C | CA367828445 | BUD23,DNAJC30 | c.43T>G (p.Trp15Gly) n.357A>C | dbSNP |
7 | g.73683381A>G | CA367828449 | BUD23,DNAJC30 | c.43T>C (p.Trp15Arg) n.357A>G | dbSNP |
7 | g.73683381A>T | CA367828451 | BUD23,DNAJC30 | c.43T>A (p.Trp15Arg) n.357A>T | |
7 | g.73683382A>C | CA456053066 | BUD23,DNAJC30 | c.42T>G (p.Pro14=) n.358A>C | |
7 | g.73683382A>G | CA456053065 | BUD23,DNAJC30 | c.42T>C (p.Pro14=) n.358A>G | |
7 | g.73683382A>T | CA456053064 | BUD23,DNAJC30 | c.42T>A (p.Pro14=) n.358A>T | gnomAD v4 |
7 | g.73683383G>A | CA4290020 | BUD23,DNAJC30 | c.41C>T (p.Pro14Leu) n.359G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683383G>C | CA367828456 | BUD23,DNAJC30 | c.41C>G (p.Pro14Arg) n.359G>C | dbSNP gnomAD v4 |
7 | g.73683383G= | CA1717166457 | BUD23,DNAJC30 | c.41C= (p.Pro14=) n.359G= | |
7 | g.73683383G>T | CA367828458 | BUD23,DNAJC30 | c.41C>A (p.Pro14His) n.359G>T | dbSNP gnomAD v4 |
7 | g.73683384G>A | CA367828462 | BUD23,DNAJC30 | c.40C>T (p.Pro14Ser) n.359+1G>A | dbSNP gnomAD v4 |
7 | g.73683384G>C | CA367828465 | BUD23,DNAJC30 | c.40C>G (p.Pro14Ala) n.359+1G>C | gnomAD v4 |
7 | g.73683384G= | CA1717166458 | BUD23,DNAJC30 | c.40C= (p.Pro14=) n.359+1G= | |
7 | g.73683384G>T | CA367828468 | BUD23,DNAJC30 | c.40C>A (p.Pro14Thr) n.359+1G>T | |
7 | g.73683385T>A | CA367828470 | BUD23,DNAJC30 | c.39A>T (p.Leu13Phe) n.359+2T>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683385T>C | CA456053070 | BUD23,DNAJC30 | c.39A>G (p.Leu13=) n.359+2T>C | gnomAD v4 |
7 | g.73683385T>G | CA367828473 | BUD23,DNAJC30 | c.39A>C (p.Leu13Phe) n.359+2T>G | |
7 | g.73683385T= | CA1717166459 | BUD23,DNAJC30 | c.39A= (p.Leu13=) n.359+2T= | |
7 | g.73683386A= | CA1717166460 | BUD23,DNAJC30 | c.38T= (p.Leu13=) n.359+3A= | |
7 | g.73683386A>C | CA367828479 | BUD23,DNAJC30 | c.38T>G (p.Leu13Ter) n.359+3A>C | |
7 | g.73683386A>G | CA4290021 | BUD23,DNAJC30 | c.38T>C (p.Leu13Ser) n.359+3A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683386A>T | CA367828476 | BUD23,DNAJC30 | c.38T>A (p.Leu13Ter) n.359+3A>T | |
7 | g.73683387A= | CA1717166461 | BUD23,DNAJC30 | c.37T= (p.Leu13=) n.359+4A= | |
7 | g.73683387A>C | CA367828484 | BUD23,DNAJC30 | c.37T>G (p.Leu13Val) n.359+4A>C | gnomAD v4 |
7 | g.73683387A>G | CA456053072 | BUD23,DNAJC30 | c.37T>C (p.Leu13=) n.359+4A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683387A>T | CA367828487 | BUD23,DNAJC30 | c.37T>A (p.Leu13Ile) n.359+4A>T | |
7 | g.73683388C>A | CA456053075 | BUD23,DNAJC30 | c.36G>T (p.Leu12=) n.359+5C>A | |
7 | g.73683388C= | CA1717166462 | BUD23,DNAJC30 | c.36G= (p.Leu12=) n.359+5C= | |
7 | g.73683388C>G | CA456053074 | BUD23,DNAJC30 | c.36G>C (p.Leu12=) n.359+5C>G | gnomAD v4 |
7 | g.73683388C>T | CA456053073 | BUD23,DNAJC30 | c.36G>A (p.Leu12=) n.359+5C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683388_73683389insCC | CA160072771 | BUD23,DNAJC30 | c.36_37insGG (p.Leu13GlyfsTer22) n.359+5_359+6insCC | dbSNP |
7 | g.73683389A= | CA1717166464 | BUD23,DNAJC30 | c.35T= (p.Leu12=) n.359+6A= | |
7 | g.73683389A>C | CA367828492 | BUD23,DNAJC30 | c.35T>G (p.Leu12Arg) n.359+6A>C | dbSNP gnomAD v4 |
7 | g.73683389A>G | CA4290022 | BUD23,DNAJC30 | c.35T>C (p.Leu12Pro) n.359+6A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683389A>T | CA367828496 | BUD23,DNAJC30 | c.35T>A (p.Leu12Gln) n.359+6A>T | |
7 | g.73683389_73683390delinsAG | CA1717166463 | BUD23,DNAJC30 | c.34_35delinsCT (p.Leu12=) n.359+6_359+7delinsAG | |
7 | g.73683390del | CA160072776 | BUD23,DNAJC30 | c.34del (p.Leu12CysfsTer22) n.359+7del | dbSNP |
7 | g.73683390G>A | CA456053079 | BUD23,DNAJC30 | c.34C>T (p.Leu12=) n.359+7G>A | gnomAD v4 |
7 | g.73683390G>C | CA4290023 | BUD23,DNAJC30 | c.34C>G (p.Leu12Val) n.359+7G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683390G= | CA1717166465 | BUD23,DNAJC30 | c.34C= (p.Leu12=) n.359+7G= | |
7 | g.73683390G>T | CA367828503 | BUD23,DNAJC30 | c.34C>A (p.Leu12Met) n.359+7G>T | |
7 | g.73683391C>A | CA456053080 | BUD23,DNAJC30 | c.33G>T (p.Arg11=) n.359+8C>A | dbSNP gnomAD v4 |
7 | g.73683391C= | CA1717166466 | BUD23,DNAJC30 | c.33G= (p.Arg11=) n.359+8C= | |
7 | g.73683391C>G | CA456053082 | BUD23,DNAJC30 | c.33G>C (p.Arg11=) n.359+8C>G | gnomAD v4 |
7 | g.73683391C>T | CA456053081 | BUD23,DNAJC30 | c.33G>A (p.Arg11=) n.359+8C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683392C>A | CA367828511 | BUD23,DNAJC30 | c.32G>T (p.Arg11Leu) n.359+9C>A | gnomAD v4 |
7 | g.73683392C>G | CA367828514 | BUD23,DNAJC30 | c.32G>C (p.Arg11Pro) n.359+9C>G | |
7 | g.73683392C>T | CA367828515 | BUD23,DNAJC30 | c.32G>A (p.Arg11Gln) n.359+9C>T | gnomAD v4 |
7 | g.73683393G>A | CA4290024 | BUD23,DNAJC30 | c.31C>T (p.Arg11Trp) n.359+10G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683393G>C | CA367828519 | BUD23,DNAJC30 | c.31C>G (p.Arg11Gly) n.359+10G>C | |
7 | g.73683393G= | CA1717166467 | BUD23,DNAJC30 | c.31C= (p.Arg11=) n.359+10G= | |
7 | g.73683393G>T | CA456053085 | BUD23,DNAJC30 | c.31C>A (p.Arg11=) n.359+10G>T | |
7 | g.73683394C>A | CA367828522 | BUD23,DNAJC30 | c.30G>T (p.Gln10His) n.359+11C>A | dbSNP |
7 | g.73683394C= | CA1717166468 | BUD23,DNAJC30 | c.30G= (p.Gln10=) n.359+11C= | |
7 | g.73683394C>G | CA160072781 | BUD23,DNAJC30 | c.30G>C (p.Gln10His) n.359+11C>G | dbSNP gnomAD v4 |
7 | g.73683394C>T | CA456053088 | BUD23,DNAJC30 | c.30G>A (p.Gln10=) n.359+11C>T | dbSNP |
7 | g.73683395T>A | CA4290025 | BUD23,DNAJC30 | c.29A>T (p.Gln10Leu) n.359+12T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683395T>C | CA367828530 | BUD23,DNAJC30 | c.29A>G (p.Gln10Arg) n.359+12T>C | gnomAD v4 |
7 | g.73683395T>G | CA367828531 | BUD23,DNAJC30 | c.29A>C (p.Gln10Pro) n.359+12T>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683395T= | CA1717166469 | BUD23,DNAJC30 | c.29A= (p.Gln10=) n.359+12T= | |
7 | g.73683396G>A | CA367828534 | BUD23,DNAJC30 | c.28C>T (p.Gln10Ter) n.359+13G>A | dbSNP gnomAD v4 |
7 | g.73683396G>C | CA367828536 | BUD23,DNAJC30 | c.28C>G (p.Gln10Glu) n.359+13G>C | |
7 | g.73683396G= | CA1717166470 | BUD23,DNAJC30 | c.28C= (p.Gln10=) n.359+13G= | |
7 | g.73683396G>T | CA367828538 | BUD23,DNAJC30 | c.28C>A (p.Gln10Lys) n.359+13G>T | gnomAD v4 |
7 | g.73683397C>A | CA367828550 | BUD23,DNAJC30 | c.27G>T (p.Trp9Cys) n.359+14C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683397C= | CA1717166471 | BUD23,DNAJC30 | c.27G= (p.Trp9=) n.359+14C= | |
7 | g.73683397C>G | CA367828552 | BUD23,DNAJC30 | c.27G>C (p.Trp9Cys) n.359+14C>G | |
7 | g.73683397C>T | CA367828555 | BUD23,DNAJC30 | c.27G>A (p.Trp9Ter) n.359+14C>T | dbSNP gnomAD v4 |
7 | g.73683398C>A | CA160072791 | BUD23,DNAJC30 | c.26G>T (p.Trp9Leu) n.359+15C>A | dbSNP |
7 | g.73683398C= | CA1717166472 | BUD23,DNAJC30 | c.26G= (p.Trp9=) n.359+15C= | |
7 | g.73683398C>G | CA367828562 | BUD23,DNAJC30 | c.26G>C (p.Trp9Ser) n.359+15C>G | |
7 | g.73683398C>T | CA367828566 | BUD23,DNAJC30 | c.26G>A (p.Trp9Ter) n.359+15C>T | dbSNP gnomAD v2 |
7 | g.73683399A= | CA1717166473 | BUD23,DNAJC30 | c.25T= (p.Trp9=) n.359+16A= | |
7 | g.73683399A>C | CA367828570 | BUD23,DNAJC30 | c.25T>G (p.Trp9Gly) n.359+16A>C | |
7 | g.73683399A>G | CA4290026 | BUD23,DNAJC30 | c.25T>C (p.Trp9Arg) n.359+16A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683399A>T | CA367828573 | BUD23,DNAJC30 | c.25T>A (p.Trp9Arg) n.359+16A>T | |
7 | g.73683400C>A | CA367828578 | BUD23,DNAJC30 | c.24G>T (p.Trp8Cys) n.359+17C>A | dbSNP |
7 | g.73683400C= | CA1717166474 | BUD23,DNAJC30 | c.24G= (p.Trp8=) n.359+17C= | |
7 | g.73683400C>G | CA367828580 | BUD23,DNAJC30 | c.24G>C (p.Trp8Cys) n.359+17C>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683400C>T | CA4290027 | BUD23,DNAJC30 | c.24G>A (p.Trp8Ter) n.359+17C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683401C>A | CA367828584 | BUD23,DNAJC30 | c.23G>T (p.Trp8Leu) n.359+18C>A | |
7 | g.73683401C= | CA1717166475 | BUD23,DNAJC30 | c.23G= (p.Trp8=) n.359+18C= | |
7 | g.73683401C>G | CA367828586 | BUD23,DNAJC30 | c.23G>C (p.Trp8Ser) n.359+18C>G | dbSNP |
7 | g.73683401C>T | CA367828589 | BUD23,DNAJC30 | c.23G>A (p.Trp8Ter) n.359+18C>T | |
7 | g.73683402A= | CA1717166476 | BUD23,DNAJC30 | c.22T= (p.Trp8=) n.359+19A= | |
7 | g.73683402A>C | CA367828599 | BUD23,DNAJC30 | c.22T>G (p.Trp8Gly) n.359+19A>C | gnomAD v4 |
7 | g.73683402A>G | CA367828596 | BUD23,DNAJC30 | c.22T>C (p.Trp8Arg) n.359+19A>G | dbSNP |
7 | g.73683402A>T | CA367828592 | BUD23,DNAJC30 | c.22T>A (p.Trp8Arg) n.359+19A>T | |
7 | g.73683403T>A | CA4290028 | BUD23,DNAJC30 | c.21A>T (p.Arg7=) n.359+20T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683403T>C | CA456053098 | BUD23,DNAJC30 | c.21A>G (p.Arg7=) n.359+20T>C | gnomAD v4 |
7 | g.73683403T>G | CA456053095 | BUD23,DNAJC30 | c.21A>C (p.Arg7=) n.359+20T>G | |
7 | g.73683403T= | CA1717166477 | BUD23,DNAJC30 | c.21A= (p.Arg7=) n.359+20T= | |
7 | g.73683404C>A | CA4290030 | BUD23,DNAJC30 | c.20G>T (p.Arg7Leu) n.359+21C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683404C= | CA1717166478 | BUD23,DNAJC30 | c.20G= (p.Arg7=) n.359+21C= | |
7 | g.73683404C>G | CA4290029 | BUD23,DNAJC30 | c.20G>C (p.Arg7Pro) n.359+21C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683404C>T | CA367828608 | BUD23,DNAJC30 | c.20G>A (p.Arg7Gln) n.359+21C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683405G>A | CA367828610 | BUD23,DNAJC30 | c.19C>T (p.Arg7Ter) n.359+22G>A | |
7 | g.73683405G>C | CA367828612 | BUD23,DNAJC30 | c.19C>G (p.Arg7Gly) n.359+22G>C | |
7 | g.73683405G= | CA1717166479 | BUD23,DNAJC30 | c.19C= (p.Arg7=) n.359+22G= | |
7 | g.73683405G>T | CA456053100 | BUD23,DNAJC30 | c.19C>A (p.Arg7=) n.359+22G>T | |
7 | g.73683405_73683406insA | CA1717166480 | BUD23,DNAJC30 | c.18_19insT (p.Arg7SerfsTer?) n.359+22_359+23insA | dbSNP |
7 | g.73683406C>A | CA367828615 | BUD23,DNAJC30 | c.18G>T (p.Trp6Cys) n.359+23C>A | |
7 | g.73683406C= | CA1717166481 | BUD23,DNAJC30 | c.18G= (p.Trp6=) n.359+23C= | |
7 | g.73683406C>G | CA367828620 | BUD23,DNAJC30 | c.18G>C (p.Trp6Cys) n.359+23C>G | |
7 | g.73683406C>T | CA367828617 | BUD23,DNAJC30 | c.18G>A (p.Trp6Ter) n.359+23C>T | dbSNP gnomAD v4 |
7 | g.73683407C>A | CA367828623 | BUD23,DNAJC30 | c.17G>T (p.Trp6Leu) n.359+24C>A | |
7 | g.73683407C= | CA1717166482 | BUD23,DNAJC30 | c.17G= (p.Trp6=) n.359+24C= | |
7 | g.73683407C>G | CA367828626 | BUD23,DNAJC30 | c.17G>C (p.Trp6Ser) n.359+24C>G | |
7 | g.73683407C>T | CA367828628 | BUD23,DNAJC30 | c.17G>A (p.Trp6Ter) n.359+24C>T | |
7 | g.73683407_73683408insT | CA4290031 | BUD23,DNAJC30 | c.16_17insA (p.Trp6Ter) n.359+24_359+25insT | dbSNP ExAC gnomAD v2 |
7 | g.73683408A= | CA1717166483 | BUD23,DNAJC30 | c.16T= (p.Trp6=) n.359+25A= | |
7 | g.73683408A>C | CA4290032 | BUD23,DNAJC30 | c.16T>G (p.Trp6Gly) n.359+25A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683408A>G | CA367828635 | BUD23,DNAJC30 | c.16T>C (p.Trp6Arg) n.359+25A>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683408A>T | CA367828639 | BUD23,DNAJC30 | c.16T>A (p.Trp6Arg) n.359+25A>T | |
7 | g.73683409G>A | CA4290033 | BUD23,DNAJC30 | c.15C>T (p.Arg5=) n.359+26G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683409G>C | CA456053106 | BUD23,DNAJC30 | c.15C>G (p.Arg5=) n.359+26G>C | gnomAD v4 |
7 | g.73683409G= | CA1717166484 | BUD23,DNAJC30 | c.15C= (p.Arg5=) n.359+26G= | |
7 | g.73683409G>T | CA456053105 | BUD23,DNAJC30 | c.15C>A (p.Arg5=) n.359+26G>T | |
7 | g.73683411_73683412del | CA2683240607 | BUD23,DNAJC30 | c.14_15del (p.Arg5LeufsTer?) n.359+28_359+29del | gnomAD v4 |
7 | g.73683410C>A | CA367828646 | BUD23,DNAJC30 | c.14G>T (p.Arg5Leu) n.359+27C>A | dbSNP gnomAD v4 |
7 | g.73683410C= | CA1717166485 | BUD23,DNAJC30 | c.14G= (p.Arg5=) n.359+27C= | |
7 | g.73683410C>G | CA367828648 | BUD23,DNAJC30 | c.14G>C (p.Arg5Pro) n.359+27C>G | gnomAD v4 |
7 | g.73683410C>T | CA367828650 | BUD23,DNAJC30 | c.14G>A (p.Arg5His) n.359+27C>T | gnomAD v4 |
7 | g.73683411G>A | CA367828653 | BUD23,DNAJC30 | c.13C>T (p.Arg5Cys) n.359+28G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683411G>C | CA367828659 | BUD23,DNAJC30 | c.13C>G (p.Arg5Gly) n.359+28G>C | |
7 | g.73683411G= | CA1717166486 | BUD23,DNAJC30 | c.13C= (p.Arg5=) n.359+28G= | |
7 | g.73683411G>T | CA367828656 | BUD23,DNAJC30 | c.13C>A (p.Arg5Ser) n.359+28G>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683412C>A | CA367828663 | BUD23,DNAJC30 | c.12G>T (p.Met4Ile) n.359+29C>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683412C= | CA1717166487 | BUD23,DNAJC30 | c.12G= (p.Met4=) n.359+29C= | |
7 | g.73683412C>G | CA367828664 | BUD23,DNAJC30 | c.12G>C (p.Met4Ile) n.359+29C>G | gnomAD v4 |
7 | g.73683412C>T | CA367828667 | BUD23,DNAJC30 | c.12G>A (p.Met4Ile) n.359+29C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683413A= | CA1717166488 | BUD23,DNAJC30 | c.11T= (p.Met4=) n.359+30A= | |
7 | g.73683413A>C | CA367828671 | BUD23,DNAJC30 | c.11T>G (p.Met4Arg) n.359+30A>C | gnomAD v4 |
7 | g.73683413A>G | CA4290034 | BUD23,DNAJC30 | c.11T>C (p.Met4Thr) n.359+30A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683413A>T | CA367828676 | BUD23,DNAJC30 | c.11T>A (p.Met4Lys) n.359+30A>T | gnomAD v4 |
7 | g.73683414T>A | CA367828679 | BUD23,DNAJC30 | c.10A>T (p.Met4Leu) n.359+31T>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683414T>C | CA160072824 | BUD23,DNAJC30 | c.10A>G (p.Met4Val) n.359+31T>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683414T>G | CA367828684 | BUD23,DNAJC30 | c.10A>C (p.Met4Leu) n.359+31T>G | |
7 | g.73683414T= | CA1717166489 | BUD23,DNAJC30 | c.10A= (p.Met4=) n.359+31T= | |
7 | g.73683415G>A | CA456053111 | BUD23,DNAJC30 | c.9C>T (p.Ala3=) n.359+32G>A | gnomAD v4 |
7 | g.73683415G>C | CA456053113 | BUD23,DNAJC30 | c.9C>G (p.Ala3=) n.359+32G>C | |
7 | g.73683415G>T | CA456053112 | BUD23,DNAJC30 | c.9C>A (p.Ala3=) n.359+32G>T | gnomAD v4 |
7 | g.73683416G>A | CA367828687 | BUD23,DNAJC30 | c.8C>T (p.Ala3Val) n.359+33G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683416G>C | CA367828688 | BUD23,DNAJC30 | c.8C>G (p.Ala3Gly) n.359+33G>C | |
7 | g.73683416G= | CA1717166490 | BUD23,DNAJC30 | c.8C= (p.Ala3=) n.359+33G= | |
7 | g.73683416G>T | CA367828690 | BUD23,DNAJC30 | c.8C>A (p.Ala3Asp) n.359+33G>T | |
7 | g.73683417C>A | CA367828702 | BUD23,DNAJC30 | c.7G>T (p.Ala3Ser) n.359+34C>A | |
7 | g.73683417C= | CA1717166491 | BUD23,DNAJC30 | c.7G= (p.Ala3=) n.359+34C= | |
7 | g.73683417C>G | CA367828695 | BUD23,DNAJC30 | c.7G>C (p.Ala3Pro) n.359+34C>G | dbSNP |
7 | g.73683417C>T | CA367828698 | BUD23,DNAJC30 | c.7G>A (p.Ala3Thr) n.359+34C>T | gnomAD v4 |
7 | g.73683418T>A | CA456053118 | BUD23,DNAJC30 | c.6A>T (p.Ala2=) n.359+35T>A | gnomAD v4 |
7 | g.73683418T>C | CA456053117 | BUD23,DNAJC30 | c.6A>G (p.Ala2=) n.359+35T>C | |
7 | g.73683418T>G | CA456053116 | BUD23,DNAJC30 | c.6A>C (p.Ala2=) n.359+35T>G | |
7 | g.73683419G>A | CA4290035 | BUD23,DNAJC30 | c.5C>T (p.Ala2Val) n.359+36G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683419G>C | CA367828706 | BUD23,DNAJC30 | c.5C>G (p.Ala2Gly) n.359+36G>C | |
7 | g.73683419G= | CA1717166492 | BUD23,DNAJC30 | c.5C= (p.Ala2=) n.359+36G= | |
7 | g.73683419G>T | CA367828709 | BUD23,DNAJC30 | c.5C>A (p.Ala2Glu) n.359+36G>T | gnomAD v4 |
7 | g.73683420C>A | CA367828712 | BUD23,DNAJC30 | c.4G>T (p.Ala2Ser) n.359+37C>A | |
7 | g.73683420C>G | CA367828714 | BUD23,DNAJC30 | c.4G>C (p.Ala2Pro) n.359+37C>G | |
7 | g.73683420C>T | CA367828717 | BUD23,DNAJC30 | c.4G>A (p.Ala2Thr) n.359+37C>T | gnomAD v4 COSMIC |
7 | g.73683421C>A | CA367828720 | BUD23,DNAJC30 | c.3G>T (p.Met1Ile) n.359+38C>A | |
7 | g.73683421C>G | CA367828723 | BUD23,DNAJC30 | c.3G>C (p.Met1Ile) n.359+38C>G | |
7 | g.73683421C>T | CA367828731 | BUD23,DNAJC30 | c.3G>A (p.Met1Ile) n.359+38C>T | |
7 | g.73683422A= | CA1717166493 | BUD23,DNAJC30 | c.2T= (p.Met1=) n.359+39A= | |
7 | g.73683422A>C | CA4290036 | BUD23,DNAJC30 | c.2T>G (p.Met1Arg) n.359+39A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683422A>G | CA367828736 | BUD23,DNAJC30 | c.2T>C (p.Met1Thr) n.359+39A>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683422A>T | CA367828738 | BUD23,DNAJC30 | c.2T>A (p.Met1Lys) n.359+39A>T | |
7 | g.73683423del | CA2683240671 | BUD23,DNAJC30 | c.1del (p.Met1TrpfsTer?) n.359+40del | gnomAD v4 |
7 | g.73683423T>A | CA367828742 | BUD23,DNAJC30 | c.1A>T (p.Met1Leu) n.359+40T>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683423T>C | CA367828745 | BUD23,DNAJC30 | c.1A>G (p.Met1Val) n.359+40T>C | gnomAD v4 |
7 | g.73683423T>G | CA367828740 | BUD23,DNAJC30 | c.1A>C (p.Met1Leu) n.359+40T>G | |
7 | g.73683423T= | CA1717166494 | BUD23,DNAJC30 | c.1A= (p.Met1=) n.359+40T= | |
7 | g.73683424G>A | CA842011079 | BUD23,DNAJC30 | c.-1C>T (n.-1C>T) n.359+41G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683424G>C | CA1717166496 | BUD23,DNAJC30 | c.-1C>G (n.-1C>G) n.359+41G>C | dbSNP |
7 | g.73683424G= | CA1717166495 | BUD23,DNAJC30 | c.-1C= (n.-1C=) n.359+41G= | |
7 | g.73683424G>T | CA4290037 | BUD23,DNAJC30 | c.-1C>A (n.-1C>A) n.359+41G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683425_73683428delinsTTGA | CA1717166497 | BUD23,DNAJC30 | c.-5_-2delinsTCAA (n.-5_-2delinsTCAA) n.359+42_359+45delinsTTGA | |
7 | g.73683426T>A | CA4290039 | BUD23,DNAJC30 | c.-3A>T (n.-3A>T) n.359+43T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683426T>C | CA4290038 | BUD23,DNAJC30 | c.-3A>G (n.-3A>G) n.359+43T>C | dbSNP ExAC gnomAD v2 |
7 | g.73683426T= | CA1717166499 | BUD23,DNAJC30 | c.-3A= (n.-3A=) n.359+43T= | |
7 | g.73683426_73683428del | CA1717166498 | BUD23,DNAJC30 | c.-5_-3del (n.-5_-3del) n.359+43_359+45del | dbSNP |
7 | g.73683427G>A | CA1717166501 | BUD23,DNAJC30 | c.-4C>T (n.-4C>T) n.359+44G>A | dbSNP gnomAD v4 |
7 | g.73683427G>C | CA842011086 | BUD23,DNAJC30 | c.-4C>G (n.-4C>G) n.359+44G>C | dbSNP gnomAD v4 |
7 | g.73683427G= | CA1717166500 | BUD23,DNAJC30 | c.-4C= (n.-4C=) n.359+44G= | |
7 | g.73683428A>T | CA2578928953 | BUD23,DNAJC30 | c.-5T>A (n.-5T>A) n.359+45A>T | gnomAD v4 |
7 | g.73683430T>A | CA2683240693 | BUD23,DNAJC30 | c.-7A>T (n.-7A>T) n.359+47T>A | gnomAD v4 |
7 | g.73683430T>C | CA2683240694 | BUD23,DNAJC30 | c.-7A>G (n.-7A>G) n.359+47T>C | gnomAD v4 |
7 | g.73683431T>G | CA2578928954 | BUD23,DNAJC30 | c.-8A>C (n.-8A>C) n.359+48T>G | gnomAD v4 |
7 | g.73683432G>A | CA2683240695 | BUD23,DNAJC30 | c.-9C>T (n.-9C>T) n.359+49G>A | gnomAD v4 |
7 | g.73683432G>C | CA2683240696 | BUD23,DNAJC30 | c.-9C>G (n.-9C>G) n.359+49G>C | gnomAD v4 |
7 | g.73683432G>T | CA2683240697 | BUD23,DNAJC30 | c.-9C>A (n.-9C>A) n.359+49G>T | gnomAD v4 |
7 | g.73683433del | CA2578928955 | BUD23,DNAJC30 | c.-10del (n.-10del) n.359+50del | |
7 | g.73683434T>C | CA2683240698 | BUD23,DNAJC30 | c.-11A>G (n.-11A>G) n.359+51T>C | gnomAD v4 |
7 | g.73683435T>A | CA575783465 | BUD23,DNAJC30 | c.-12A>T (n.-12A>T) n.359+52T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683435T= | CA1717166502 | BUD23,DNAJC30 | c.-12A= (n.-12A=) n.359+52T= | |
7 | g.73683436C>A | CA2683240699 | BUD23,DNAJC30 | c.-13G>T (n.-13G>T) n.359+53C>A | gnomAD v4 |
7 | g.73683436C= | CA1717166503 | BUD23,DNAJC30 | c.-13G= (n.-13G=) n.359+53C= | |
7 | g.73683436C>T | CA575783466 | BUD23,DNAJC30 | c.-13G>A (n.-13G>A) n.359+53C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683437G>A | CA1717166505 | BUD23,DNAJC30 | c.-14C>T (n.-14C>T) n.359+54G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683437G= | CA1717166504 | BUD23,DNAJC30 | c.-14C= (n.-14C=) n.359+54G= | |
7 | g.73683439C>A | CA2683240700 | BUD23,DNAJC30 | c.-16G>T (n.-16G>T) n.359+56C>A | gnomAD v4 |
7 | g.73683439C= | CA1717166506 | BUD23,DNAJC30 | c.-16G= (n.-16G=) n.359+56C= | |
7 | g.73683439C>G | CA4290040 | BUD23,DNAJC30 | c.-16G>C (n.-16G>C) n.359+56C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683439C>T | CA1717166507 | BUD23,DNAJC30 | c.-16G>A (n.-16G>A) n.359+56C>T | dbSNP |
7 | g.73683440A= | CA1717166508 | BUD23,DNAJC30 | c.-17T= (n.-17T=) n.359+57A= | |
7 | g.73683440A>G | CA1103051378 | BUD23,DNAJC30 | c.-17T>C (n.-17T>C) n.359+57A>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683441G>A | CA575783385 | BUD23,DNAJC30 | c.-18C>T (n.-18C>T) n.359+58G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683441G= | CA1717166509 | BUD23,DNAJC30 | c.-18C= (n.-18C=) n.359+58G= | |
7 | g.73683441G>T | CA2683240701 | BUD23,DNAJC30 | c.-18C>A (n.-18C>A) n.359+58G>T | gnomAD v4 |
7 | g.73683443C>A | CA842011118 | BUD23,DNAJC30 | c.-20G>T (n.-20G>T) n.359+60C>A | dbSNP gnomAD v4 |
7 | g.73683443C= | CA1717166510 | BUD23,DNAJC30 | c.-20G= (n.-20G=) n.359+60C= | |
7 | g.73683443_73683444delinsCG | CA1717166511 | BUD23,DNAJC30 | c.-21_-20delinsCG (n.-21_-20delinsCG) n.359+60_359+61delinsCG | |
7 | g.73683444G>A | CA2776457845 | BUD23,DNAJC30 | c.-21C>T (n.-21C>T) n.359+61G>A | |
7 | g.73683445del | CA4290041 | BUD23,DNAJC30 | c.-21del (n.-21del) n.359+62del | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683445G>A | CA1103051381 | BUD23,DNAJC30 | c.-22C>T (n.-22C>T) n.359+62G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683445G= | CA1717166512 | BUD23,DNAJC30 | c.-22C= (n.-22C=) n.359+62G= | |
7 | g.73683446T>C | CA575783386 | BUD23,DNAJC30 | c.-23A>G (n.-23A>G) n.359+63T>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683446T>G | CA1717166514 | BUD23,DNAJC30 | c.-23A>C (n.-23A>C) n.359+63T>G | dbSNP |
7 | g.73683446T= | CA1717166513 | BUD23,DNAJC30 | c.-23A= (n.-23A=) n.359+63T= | |
7 | g.73683447G>A | CA2683240702 | BUD23,DNAJC30 | c.-24C>T (n.-24C>T) n.359+64G>A | gnomAD v4 |
7 | g.73683447G>T | CA2683240703 | BUD23,DNAJC30 | c.-24C>A (n.-24C>A) n.359+64G>T | gnomAD v4 |
7 | g.73683448C>A | CA575783387 | BUD23,DNAJC30 | c.-25G>T (n.-25G>T) n.359+65C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683448C= | CA1717166515 | BUD23,DNAJC30 | c.-25G= (n.-25G=) n.359+65C= | |
7 | g.73683448C>T | CA2683240704 | BUD23,DNAJC30 | c.-25G>A (n.-25G>A) n.359+65C>T | gnomAD v4 |
7 | g.73683449A= | CA1717166516 | BUD23,DNAJC30 | c.-26T= (n.-26T=) n.359+66A= | |
7 | g.73683449A>G | CA4290042 | BUD23,DNAJC30 | c.-26T>C (n.-26T>C) n.359+66A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683450A= | CA1717166517 | BUD23,DNAJC30 | c.-27T= (n.-27T=) n.359+67A= | |
7 | g.73683450A>G | CA575783388 | BUD23,DNAJC30 | c.-27T>C (n.-27T>C) n.359+67A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683451G>A | CA575783389 | BUD23,DNAJC30 | c.-28C>T (n.-28C>T) n.359+68G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683451G= | CA1717166518 | BUD23,DNAJC30 | c.-28C= (n.-28C=) n.359+68G= | |
7 | g.73683453G>A | CA2776457847 | BUD23,DNAJC30 | c.-30C>T (n.-30C>T) n.359+70G>A | |
7 | g.73683453G= | CA1717166519 | BUD23,DNAJC30 | c.-30C= (n.-30C=) n.359+70G= | |
7 | g.73683453G>T | CA4290043 | BUD23,DNAJC30 | c.-30C>A (n.-30C>A) n.359+70G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683453dup | CA2683240709 | BUD23,DNAJC30 | c.-30dup (n.-30dup) n.359+70dup | gnomAD v4 |
7 | g.73683457C>T | CA2683240711 | BUD23 | n.359+74C>T | gnomAD v4 |
7 | g.73683458C>A | CA2683240713 | BUD23 | n.359+75C>A | gnomAD v4 |
7 | g.73683458C= | CA1717166520 | BUD23 | n.359+75C= | |
7 | g.73683458C>G | CA4290044 | BUD23 | n.359+75C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683458C>T | CA1717166521 | BUD23 | n.359+75C>T | dbSNP gnomAD v4 |
7 | g.73683459G>A | CA4290045 | BUD23 | n.359+76G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683459G= | CA1717166522 | BUD23 | n.359+76G= | |
7 | g.73683459G>T | CA2683240722 | BUD23 | n.359+76G>T | gnomAD v4 |
7 | g.73683460G>A | CA4290046 | BUD23 | n.359+77G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683460G= | CA1717166523 | BUD23 | n.359+77G= |