Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.15572817_15572843delinsAACCTCCCTGACGTAAGTGATCCTCCC | CA1612376416 | DTNBP1 | c.511+20216_511+20242delinsGGGAGGATCACTTACGTCAGGGAGGTT (n.511+20216_511+20242delinsGGGAGGATCACTTACGTCAGGGAGGTT) c.460+20216_460+20242delinsGGGAGGATCACTTACGTCAGGGAGGTT (n.460+20216_460+20242delinsGGGAGGATCACTTACGTCAGGGAGGTT) c.43+12876_43+12902delinsGGGAGGATCACTTACGTCAGGGAGGTT (n.43+12876_43+12902delinsGGGAGGATCACTTACGTCAGGGAGGTT) c.*509+20216_*509+20242delinsGGGAGGATCACTTACGTCAGGGAGGTT (n.*509+20216_*509+20242delinsGGGAGGATCACTTACGTCAGGGAGGTT) c.*421+20216_*421+20242delinsGGGAGGATCACTTACGTCAGGGAGGTT (n.*421+20216_*421+20242delinsGGGAGGATCACTTACGTCAGGGAGGTT) c.406+20216_406+20242delinsGGGAGGATCACTTACGTCAGGGAGGTT (n.406+20216_406+20242delinsGGGAGGATCACTTACGTCAGGGAGGTT) c.268+20216_268+20242delinsGGGAGGATCACTTACGTCAGGGAGGTT (n.268+20216_268+20242delinsGGGAGGATCACTTACGTCAGGGAGGTT) n.839+20216_839+20242delinsGGGAGGATCACTTACGTCAGGGAGGTT c.472+20216_472+20242delinsGGGAGGATCACTTACGTCAGGGAGGTT (n.472+20216_472+20242delinsGGGAGGATCACTTACGTCAGGGAGGTT) c.421+20216_421+20242delinsGGGAGGATCACTTACGTCAGGGAGGTT (n.421+20216_421+20242delinsGGGAGGATCACTTACGTCAGGGAGGTT) n.809+20216_809+20242delinsGGGAGGATCACTTACGTCAGGGAGGTT | |
6 | g.15572823_15572848del | CA1086318634 | DTNBP1 | c.511+20216_511+20241del (n.511+20216_511+20241del) c.460+20216_460+20241del (n.460+20216_460+20241del) c.43+12876_43+12901del (n.43+12876_43+12901del) c.*509+20216_*509+20241del (n.*509+20216_*509+20241del) c.*421+20216_*421+20241del (n.*421+20216_*421+20241del) c.406+20216_406+20241del (n.406+20216_406+20241del) c.268+20216_268+20241del (n.268+20216_268+20241del) n.839+20216_839+20241del c.472+20216_472+20241del (n.472+20216_472+20241del) c.421+20216_421+20241del (n.421+20216_421+20241del) n.809+20216_809+20241del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.15572837_15572850delinsTCCTCCCACCTCAG | CA1612376437 | DTNBP1 | c.511+20209_511+20222delinsCTGAGGTGGGAGGA (n.511+20209_511+20222delinsCTGAGGTGGGAGGA) c.460+20209_460+20222delinsCTGAGGTGGGAGGA (n.460+20209_460+20222delinsCTGAGGTGGGAGGA) c.43+12869_43+12882delinsCTGAGGTGGGAGGA (n.43+12869_43+12882delinsCTGAGGTGGGAGGA) c.*509+20209_*509+20222delinsCTGAGGTGGGAGGA (n.*509+20209_*509+20222delinsCTGAGGTGGGAGGA) c.*421+20209_*421+20222delinsCTGAGGTGGGAGGA (n.*421+20209_*421+20222delinsCTGAGGTGGGAGGA) c.406+20209_406+20222delinsCTGAGGTGGGAGGA (n.406+20209_406+20222delinsCTGAGGTGGGAGGA) c.268+20209_268+20222delinsCTGAGGTGGGAGGA (n.268+20209_268+20222delinsCTGAGGTGGGAGGA) n.839+20209_839+20222delinsCTGAGGTGGGAGGA c.472+20209_472+20222delinsCTGAGGTGGGAGGA (n.472+20209_472+20222delinsCTGAGGTGGGAGGA) c.421+20209_421+20222delinsCTGAGGTGGGAGGA (n.421+20209_421+20222delinsCTGAGGTGGGAGGA) n.809+20209_809+20222delinsCTGAGGTGGGAGGA | |
6 | g.15572842_15572854del | CA1086318654 | DTNBP1 | c.511+20209_511+20221del (n.511+20209_511+20221del) c.460+20209_460+20221del (n.460+20209_460+20221del) c.43+12869_43+12881del (n.43+12869_43+12881del) c.*509+20209_*509+20221del (n.*509+20209_*509+20221del) c.*421+20209_*421+20221del (n.*421+20209_*421+20221del) c.406+20209_406+20221del (n.406+20209_406+20221del) c.268+20209_268+20221del (n.268+20209_268+20221del) n.839+20209_839+20221del c.472+20209_472+20221del (n.472+20209_472+20221del) c.421+20209_421+20221del (n.421+20209_421+20221del) n.809+20209_809+20221del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.15572843C>A | CA2739303886 | DTNBP1 | c.511+20216G>T (n.511+20216G>T) c.460+20216G>T (n.460+20216G>T) c.43+12876G>T (n.43+12876G>T) c.*509+20216G>T (n.*509+20216G>T) c.*421+20216G>T (n.*421+20216G>T) c.406+20216G>T (n.406+20216G>T) c.268+20216G>T (n.268+20216G>T) n.839+20216G>T c.472+20216G>T (n.472+20216G>T) c.421+20216G>T (n.421+20216G>T) n.809+20216G>T | |
6 | g.15572843C= | CA1612376439 | DTNBP1 | c.511+20216G= (n.511+20216G=) c.460+20216G= (n.460+20216G=) c.43+12876G= (n.43+12876G=) c.*509+20216G= (n.*509+20216G=) c.*421+20216G= (n.*421+20216G=) c.406+20216G= (n.406+20216G=) c.268+20216G= (n.268+20216G=) n.839+20216G= c.472+20216G= (n.472+20216G=) c.421+20216G= (n.421+20216G=) n.809+20216G= | |
6 | g.15572843C>G | CA2739303887 | DTNBP1 | c.511+20216G>C (n.511+20216G>C) c.460+20216G>C (n.460+20216G>C) c.43+12876G>C (n.43+12876G>C) c.*509+20216G>C (n.*509+20216G>C) c.*421+20216G>C (n.*421+20216G>C) c.406+20216G>C (n.406+20216G>C) c.268+20216G>C (n.268+20216G>C) n.839+20216G>C c.472+20216G>C (n.472+20216G>C) c.421+20216G>C (n.421+20216G>C) n.809+20216G>C | |
6 | g.15572843C>T | CA12225905 | DTNBP1 | c.511+20216G>A (n.511+20216G>A) c.460+20216G>A (n.460+20216G>A) c.43+12876G>A (n.43+12876G>A) c.*509+20216G>A (n.*509+20216G>A) c.*421+20216G>A (n.*421+20216G>A) c.406+20216G>A (n.406+20216G>A) c.268+20216G>A (n.268+20216G>A) n.839+20216G>A c.472+20216G>A (n.472+20216G>A) c.421+20216G>A (n.421+20216G>A) n.809+20216G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.15572849A= | CA1612376441 | DTNBP1 | c.511+20210T= (n.511+20210T=) c.460+20210T= (n.460+20210T=) c.43+12870T= (n.43+12870T=) c.*509+20210T= (n.*509+20210T=) c.*421+20210T= (n.*421+20210T=) c.406+20210T= (n.406+20210T=) c.268+20210T= (n.268+20210T=) n.839+20210T= c.472+20210T= (n.472+20210T=) c.421+20210T= (n.421+20210T=) n.809+20210T= | |
6 | g.15572849A>C | CA134846982 | DTNBP1 | c.511+20210T>G (n.511+20210T>G) c.460+20210T>G (n.460+20210T>G) c.43+12870T>G (n.43+12870T>G) c.*509+20210T>G (n.*509+20210T>G) c.*421+20210T>G (n.*421+20210T>G) c.406+20210T>G (n.406+20210T>G) c.268+20210T>G (n.268+20210T>G) n.839+20210T>G c.472+20210T>G (n.472+20210T>G) c.421+20210T>G (n.421+20210T>G) n.809+20210T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.15572851C= | CA1612376442 | DTNBP1 | c.511+20208G= (n.511+20208G=) c.460+20208G= (n.460+20208G=) c.43+12868G= (n.43+12868G=) c.*509+20208G= (n.*509+20208G=) c.*421+20208G= (n.*421+20208G=) c.406+20208G= (n.406+20208G=) c.268+20208G= (n.268+20208G=) n.839+20208G= c.472+20208G= (n.472+20208G=) c.421+20208G= (n.421+20208G=) n.809+20208G= | |
6 | g.15572851C>G | CA134846991 | DTNBP1 | c.511+20208G>C (n.511+20208G>C) c.460+20208G>C (n.460+20208G>C) c.43+12868G>C (n.43+12868G>C) c.*509+20208G>C (n.*509+20208G>C) c.*421+20208G>C (n.*421+20208G>C) c.406+20208G>C (n.406+20208G>C) c.268+20208G>C (n.268+20208G>C) n.839+20208G>C c.472+20208G>C (n.472+20208G>C) c.421+20208G>C (n.421+20208G>C) n.809+20208G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.15572862G>A | CA821181850 | DTNBP1 | c.511+20197C>T (n.511+20197C>T) c.460+20197C>T (n.460+20197C>T) c.43+12857C>T (n.43+12857C>T) c.*509+20197C>T (n.*509+20197C>T) c.*421+20197C>T (n.*421+20197C>T) c.406+20197C>T (n.406+20197C>T) c.268+20197C>T (n.268+20197C>T) n.839+20197C>T c.472+20197C>T (n.472+20197C>T) c.421+20197C>T (n.421+20197C>T) n.809+20197C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.15572862G= | CA1612376445 | DTNBP1 | c.511+20197C= (n.511+20197C=) c.460+20197C= (n.460+20197C=) c.43+12857C= (n.43+12857C=) c.*509+20197C= (n.*509+20197C=) c.*421+20197C= (n.*421+20197C=) c.406+20197C= (n.406+20197C=) c.268+20197C= (n.268+20197C=) n.839+20197C= c.472+20197C= (n.472+20197C=) c.421+20197C= (n.421+20197C=) n.809+20197C= | |
6 | g.15572864T>C | CA134847008 | DTNBP1 | c.511+20195A>G (n.511+20195A>G) c.460+20195A>G (n.460+20195A>G) c.43+12855A>G (n.43+12855A>G) c.*509+20195A>G (n.*509+20195A>G) c.*421+20195A>G (n.*421+20195A>G) c.406+20195A>G (n.406+20195A>G) c.268+20195A>G (n.268+20195A>G) n.839+20195A>G c.472+20195A>G (n.472+20195A>G) c.421+20195A>G (n.421+20195A>G) n.809+20195A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.15572864T= | CA1612376446 | DTNBP1 | c.511+20195A= (n.511+20195A=) c.460+20195A= (n.460+20195A=) c.43+12855A= (n.43+12855A=) c.*509+20195A= (n.*509+20195A=) c.*421+20195A= (n.*421+20195A=) c.406+20195A= (n.406+20195A=) c.268+20195A= (n.268+20195A=) n.839+20195A= c.472+20195A= (n.472+20195A=) c.421+20195A= (n.421+20195A=) n.809+20195A= | |
6 | g.15572867G>C | CA1086318662 | DTNBP1 | c.511+20192C>G (n.511+20192C>G) c.460+20192C>G (n.460+20192C>G) c.43+12852C>G (n.43+12852C>G) c.*509+20192C>G (n.*509+20192C>G) c.*421+20192C>G (n.*421+20192C>G) c.406+20192C>G (n.406+20192C>G) c.268+20192C>G (n.268+20192C>G) n.839+20192C>G c.472+20192C>G (n.472+20192C>G) c.421+20192C>G (n.421+20192C>G) n.809+20192C>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.15572867G= | CA1612376448 | DTNBP1 | c.511+20192C= (n.511+20192C=) c.460+20192C= (n.460+20192C=) c.43+12852C= (n.43+12852C=) c.*509+20192C= (n.*509+20192C=) c.*421+20192C= (n.*421+20192C=) c.406+20192C= (n.406+20192C=) c.268+20192C= (n.268+20192C=) n.839+20192C= c.472+20192C= (n.472+20192C=) c.421+20192C= (n.421+20192C=) n.809+20192C= | |
6 | g.15572869C= | CA1612376450 | DTNBP1 | c.511+20190G= (n.511+20190G=) c.460+20190G= (n.460+20190G=) c.43+12850G= (n.43+12850G=) c.*509+20190G= (n.*509+20190G=) c.*421+20190G= (n.*421+20190G=) c.406+20190G= (n.406+20190G=) c.268+20190G= (n.268+20190G=) n.839+20190G= c.472+20190G= (n.472+20190G=) c.421+20190G= (n.421+20190G=) n.809+20190G= | |
6 | g.15572869C>G | CA1612376451 | DTNBP1 | c.511+20190G>C (n.511+20190G>C) c.460+20190G>C (n.460+20190G>C) c.43+12850G>C (n.43+12850G>C) c.*509+20190G>C (n.*509+20190G>C) c.*421+20190G>C (n.*421+20190G>C) c.406+20190G>C (n.406+20190G>C) c.268+20190G>C (n.268+20190G>C) n.839+20190G>C c.472+20190G>C (n.472+20190G>C) c.421+20190G>C (n.421+20190G>C) n.809+20190G>C | dbSNP |
6 | g.15572873A>T | CA2539431690 | DTNBP1 | c.511+20186T>A (n.511+20186T>A) c.460+20186T>A (n.460+20186T>A) c.43+12846T>A (n.43+12846T>A) c.*509+20186T>A (n.*509+20186T>A) c.*421+20186T>A (n.*421+20186T>A) c.406+20186T>A (n.406+20186T>A) c.268+20186T>A (n.268+20186T>A) n.839+20186T>A c.472+20186T>A (n.472+20186T>A) c.421+20186T>A (n.421+20186T>A) n.809+20186T>A | |
6 | g.15572874G>A | CA821181854 | DTNBP1 | c.511+20185C>T (n.511+20185C>T) c.460+20185C>T (n.460+20185C>T) c.43+12845C>T (n.43+12845C>T) c.*509+20185C>T (n.*509+20185C>T) c.*421+20185C>T (n.*421+20185C>T) c.406+20185C>T (n.406+20185C>T) c.268+20185C>T (n.268+20185C>T) n.839+20185C>T c.472+20185C>T (n.472+20185C>T) c.421+20185C>T (n.421+20185C>T) n.809+20185C>T | dbSNP |
6 | g.15572874G= | CA1612376453 | DTNBP1 | c.511+20185C= (n.511+20185C=) c.460+20185C= (n.460+20185C=) c.43+12845C= (n.43+12845C=) c.*509+20185C= (n.*509+20185C=) c.*421+20185C= (n.*421+20185C=) c.406+20185C= (n.406+20185C=) c.268+20185C= (n.268+20185C=) n.839+20185C= c.472+20185C= (n.472+20185C=) c.421+20185C= (n.421+20185C=) n.809+20185C= | |
6 | g.15572875G>A | CA1612376455 | DTNBP1 | c.511+20184C>T (n.511+20184C>T) c.460+20184C>T (n.460+20184C>T) c.43+12844C>T (n.43+12844C>T) c.*509+20184C>T (n.*509+20184C>T) c.*421+20184C>T (n.*421+20184C>T) c.406+20184C>T (n.406+20184C>T) c.268+20184C>T (n.268+20184C>T) n.839+20184C>T c.472+20184C>T (n.472+20184C>T) c.421+20184C>T (n.421+20184C>T) n.809+20184C>T | dbSNP |
6 | g.15572875G= | CA1612376454 | DTNBP1 | c.511+20184C= (n.511+20184C=) c.460+20184C= (n.460+20184C=) c.43+12844C= (n.43+12844C=) c.*509+20184C= (n.*509+20184C=) c.*421+20184C= (n.*421+20184C=) c.406+20184C= (n.406+20184C=) c.268+20184C= (n.268+20184C=) n.839+20184C= c.472+20184C= (n.472+20184C=) c.421+20184C= (n.421+20184C=) n.809+20184C= | |
6 | g.15572882C>A | CA821181855 | DTNBP1 | c.511+20177G>T (n.511+20177G>T) c.460+20177G>T (n.460+20177G>T) c.43+12837G>T (n.43+12837G>T) c.*509+20177G>T (n.*509+20177G>T) c.*421+20177G>T (n.*421+20177G>T) c.406+20177G>T (n.406+20177G>T) c.268+20177G>T (n.268+20177G>T) n.839+20177G>T c.472+20177G>T (n.472+20177G>T) c.421+20177G>T (n.421+20177G>T) n.809+20177G>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.15572882C= | CA1612376457 | DTNBP1 | c.511+20177G= (n.511+20177G=) c.460+20177G= (n.460+20177G=) c.43+12837G= (n.43+12837G=) c.*509+20177G= (n.*509+20177G=) c.*421+20177G= (n.*421+20177G=) c.406+20177G= (n.406+20177G=) c.268+20177G= (n.268+20177G=) n.839+20177G= c.472+20177G= (n.472+20177G=) c.421+20177G= (n.421+20177G=) n.809+20177G= | |
6 | g.15572884A= | CA1612376459 | DTNBP1 | c.511+20175T= (n.511+20175T=) c.460+20175T= (n.460+20175T=) c.43+12835T= (n.43+12835T=) c.*509+20175T= (n.*509+20175T=) c.*421+20175T= (n.*421+20175T=) c.406+20175T= (n.406+20175T=) c.268+20175T= (n.268+20175T=) n.839+20175T= c.472+20175T= (n.472+20175T=) c.421+20175T= (n.421+20175T=) n.809+20175T= | |
6 | g.15572884A>G | CA134847022 | DTNBP1 | c.511+20175T>C (n.511+20175T>C) c.460+20175T>C (n.460+20175T>C) c.43+12835T>C (n.43+12835T>C) c.*509+20175T>C (n.*509+20175T>C) c.*421+20175T>C (n.*421+20175T>C) c.406+20175T>C (n.406+20175T>C) c.268+20175T>C (n.268+20175T>C) n.839+20175T>C c.472+20175T>C (n.472+20175T>C) c.421+20175T>C (n.421+20175T>C) n.809+20175T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.15572885C= | CA1612376462 | DTNBP1 | c.511+20174G= (n.511+20174G=) c.460+20174G= (n.460+20174G=) c.43+12834G= (n.43+12834G=) c.*509+20174G= (n.*509+20174G=) c.*421+20174G= (n.*421+20174G=) c.406+20174G= (n.406+20174G=) c.268+20174G= (n.268+20174G=) n.839+20174G= c.472+20174G= (n.472+20174G=) c.421+20174G= (n.421+20174G=) n.809+20174G= | |
6 | g.15572885C>T | CA134847027 | DTNBP1 | c.511+20174G>A (n.511+20174G>A) c.460+20174G>A (n.460+20174G>A) c.43+12834G>A (n.43+12834G>A) c.*509+20174G>A (n.*509+20174G>A) c.*421+20174G>A (n.*421+20174G>A) c.406+20174G>A (n.406+20174G>A) c.268+20174G>A (n.268+20174G>A) n.839+20174G>A c.472+20174G>A (n.472+20174G>A) c.421+20174G>A (n.421+20174G>A) n.809+20174G>A | dbSNP |
6 | g.15572886C>A | CA2499816457 | DTNBP1 | c.511+20173G>T (n.511+20173G>T) c.460+20173G>T (n.460+20173G>T) c.43+12833G>T (n.43+12833G>T) c.*509+20173G>T (n.*509+20173G>T) c.*421+20173G>T (n.*421+20173G>T) c.406+20173G>T (n.406+20173G>T) c.268+20173G>T (n.268+20173G>T) n.839+20173G>T c.472+20173G>T (n.472+20173G>T) c.421+20173G>T (n.421+20173G>T) n.809+20173G>T | |
6 | g.15572887A= | CA1612376465 | DTNBP1 | c.511+20172T= (n.511+20172T=) c.460+20172T= (n.460+20172T=) c.43+12832T= (n.43+12832T=) c.*509+20172T= (n.*509+20172T=) c.*421+20172T= (n.*421+20172T=) c.406+20172T= (n.406+20172T=) c.268+20172T= (n.268+20172T=) n.839+20172T= c.472+20172T= (n.472+20172T=) c.421+20172T= (n.421+20172T=) n.809+20172T= | |
6 | g.15572887A>G | CA565515981 | DTNBP1 | c.511+20172T>C (n.511+20172T>C) c.460+20172T>C (n.460+20172T>C) c.43+12832T>C (n.43+12832T>C) c.*509+20172T>C (n.*509+20172T>C) c.*421+20172T>C (n.*421+20172T>C) c.406+20172T>C (n.406+20172T>C) c.268+20172T>C (n.268+20172T>C) n.839+20172T>C c.472+20172T>C (n.472+20172T>C) c.421+20172T>C (n.421+20172T>C) n.809+20172T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.15572888C= | CA1612376467 | DTNBP1 | c.511+20171G= (n.511+20171G=) c.460+20171G= (n.460+20171G=) c.43+12831G= (n.43+12831G=) c.*509+20171G= (n.*509+20171G=) c.*421+20171G= (n.*421+20171G=) c.406+20171G= (n.406+20171G=) c.268+20171G= (n.268+20171G=) n.839+20171G= c.472+20171G= (n.472+20171G=) c.421+20171G= (n.421+20171G=) n.809+20171G= | |
6 | g.15572888C>T | CA1086318666 | DTNBP1 | c.511+20171G>A (n.511+20171G>A) c.460+20171G>A (n.460+20171G>A) c.43+12831G>A (n.43+12831G>A) c.*509+20171G>A (n.*509+20171G>A) c.*421+20171G>A (n.*421+20171G>A) c.406+20171G>A (n.406+20171G>A) c.268+20171G>A (n.268+20171G>A) n.839+20171G>A c.472+20171G>A (n.472+20171G>A) c.421+20171G>A (n.421+20171G>A) n.809+20171G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.15572890_15572891delinsAC | CA1612376468 | DTNBP1 | c.511+20168_511+20169delinsGT (n.511+20168_511+20169delinsGT) c.460+20168_460+20169delinsGT (n.460+20168_460+20169delinsGT) c.43+12828_43+12829delinsGT (n.43+12828_43+12829delinsGT) c.*509+20168_*509+20169delinsGT (n.*509+20168_*509+20169delinsGT) c.*421+20168_*421+20169delinsGT (n.*421+20168_*421+20169delinsGT) c.406+20168_406+20169delinsGT (n.406+20168_406+20169delinsGT) c.268+20168_268+20169delinsGT (n.268+20168_268+20169delinsGT) n.839+20168_839+20169delinsGT c.472+20168_472+20169delinsGT (n.472+20168_472+20169delinsGT) c.421+20168_421+20169delinsGT (n.421+20168_421+20169delinsGT) n.809+20168_809+20169delinsGT | |
6 | g.15572891C= | CA1612376471 | DTNBP1 | c.511+20168G= (n.511+20168G=) c.460+20168G= (n.460+20168G=) c.43+12828G= (n.43+12828G=) c.*509+20168G= (n.*509+20168G=) c.*421+20168G= (n.*421+20168G=) c.406+20168G= (n.406+20168G=) c.268+20168G= (n.268+20168G=) n.839+20168G= c.472+20168G= (n.472+20168G=) c.421+20168G= (n.421+20168G=) n.809+20168G= | |
6 | g.15572891C>T | CA134847032 | DTNBP1 | c.511+20168G>A (n.511+20168G>A) c.460+20168G>A (n.460+20168G>A) c.43+12828G>A (n.43+12828G>A) c.*509+20168G>A (n.*509+20168G>A) c.*421+20168G>A (n.*421+20168G>A) c.406+20168G>A (n.406+20168G>A) c.268+20168G>A (n.268+20168G>A) n.839+20168G>A c.472+20168G>A (n.472+20168G>A) c.421+20168G>A (n.421+20168G>A) n.809+20168G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.15572892del | CA821181862 | DTNBP1 | c.511+20168del (n.511+20168del) c.460+20168del (n.460+20168del) c.43+12828del (n.43+12828del) c.*509+20168del (n.*509+20168del) c.*421+20168del (n.*421+20168del) c.406+20168del (n.406+20168del) c.268+20168del (n.268+20168del) n.839+20168del c.472+20168del (n.472+20168del) c.421+20168del (n.421+20168del) n.809+20168del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.15572894G>C | CA134847036 | DTNBP1 | c.511+20165C>G (n.511+20165C>G) c.460+20165C>G (n.460+20165C>G) c.43+12825C>G (n.43+12825C>G) c.*509+20165C>G (n.*509+20165C>G) c.*421+20165C>G (n.*421+20165C>G) c.406+20165C>G (n.406+20165C>G) c.268+20165C>G (n.268+20165C>G) n.839+20165C>G c.472+20165C>G (n.472+20165C>G) c.421+20165C>G (n.421+20165C>G) n.809+20165C>G | dbSNP |
6 | g.15572894G= | CA1612376473 | DTNBP1 | c.511+20165C= (n.511+20165C=) c.460+20165C= (n.460+20165C=) c.43+12825C= (n.43+12825C=) c.*509+20165C= (n.*509+20165C=) c.*421+20165C= (n.*421+20165C=) c.406+20165C= (n.406+20165C=) c.268+20165C= (n.268+20165C=) n.839+20165C= c.472+20165C= (n.472+20165C=) c.421+20165C= (n.421+20165C=) n.809+20165C= | |
6 | g.15572902T>C | CA1612376478 | DTNBP1 | c.511+20157A>G (n.511+20157A>G) c.460+20157A>G (n.460+20157A>G) c.43+12817A>G (n.43+12817A>G) c.*509+20157A>G (n.*509+20157A>G) c.*421+20157A>G (n.*421+20157A>G) c.406+20157A>G (n.406+20157A>G) c.268+20157A>G (n.268+20157A>G) n.839+20157A>G c.472+20157A>G (n.472+20157A>G) c.421+20157A>G (n.421+20157A>G) n.809+20157A>G | dbSNP |
6 | g.15572902T= | CA1612376477 | DTNBP1 | c.511+20157A= (n.511+20157A=) c.460+20157A= (n.460+20157A=) c.43+12817A= (n.43+12817A=) c.*509+20157A= (n.*509+20157A=) c.*421+20157A= (n.*421+20157A=) c.406+20157A= (n.406+20157A=) c.268+20157A= (n.268+20157A=) n.839+20157A= c.472+20157A= (n.472+20157A=) c.421+20157A= (n.421+20157A=) n.809+20157A= | |
6 | g.15572904T>A | CA821181865 | DTNBP1 | c.511+20155A>T (n.511+20155A>T) c.460+20155A>T (n.460+20155A>T) c.43+12815A>T (n.43+12815A>T) c.*509+20155A>T (n.*509+20155A>T) c.*421+20155A>T (n.*421+20155A>T) c.406+20155A>T (n.406+20155A>T) c.268+20155A>T (n.268+20155A>T) n.839+20155A>T c.472+20155A>T (n.472+20155A>T) c.421+20155A>T (n.421+20155A>T) n.809+20155A>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.15572904T= | CA1612376481 | DTNBP1 | c.511+20155A= (n.511+20155A=) c.460+20155A= (n.460+20155A=) c.43+12815A= (n.43+12815A=) c.*509+20155A= (n.*509+20155A=) c.*421+20155A= (n.*421+20155A=) c.406+20155A= (n.406+20155A=) c.268+20155A= (n.268+20155A=) n.839+20155A= c.472+20155A= (n.472+20155A=) c.421+20155A= (n.421+20155A=) n.809+20155A= | |
6 | g.15572904_15572905delinsTA | CA1612376480 | DTNBP1 | c.511+20154_511+20155delinsTA (n.511+20154_511+20155delinsTA) c.460+20154_460+20155delinsTA (n.460+20154_460+20155delinsTA) c.43+12814_43+12815delinsTA (n.43+12814_43+12815delinsTA) c.*509+20154_*509+20155delinsTA (n.*509+20154_*509+20155delinsTA) c.*421+20154_*421+20155delinsTA (n.*421+20154_*421+20155delinsTA) c.406+20154_406+20155delinsTA (n.406+20154_406+20155delinsTA) c.268+20154_268+20155delinsTA (n.268+20154_268+20155delinsTA) n.839+20154_839+20155delinsTA c.472+20154_472+20155delinsTA (n.472+20154_472+20155delinsTA) c.421+20154_421+20155delinsTA (n.421+20154_421+20155delinsTA) n.809+20154_809+20155delinsTA | |
6 | g.15572906del | CA917683022 | DTNBP1 | c.511+20154del (n.511+20154del) c.460+20154del (n.460+20154del) c.43+12814del (n.43+12814del) c.*509+20154del (n.*509+20154del) c.*421+20154del (n.*421+20154del) c.406+20154del (n.406+20154del) c.268+20154del (n.268+20154del) n.839+20154del c.472+20154del (n.472+20154del) c.421+20154del (n.421+20154del) n.809+20154del | dbSNP |
6 | g.15572906A= | CA1612376483 | DTNBP1 | c.511+20153T= (n.511+20153T=) c.460+20153T= (n.460+20153T=) c.43+12813T= (n.43+12813T=) c.*509+20153T= (n.*509+20153T=) c.*421+20153T= (n.*421+20153T=) c.406+20153T= (n.406+20153T=) c.268+20153T= (n.268+20153T=) n.839+20153T= c.472+20153T= (n.472+20153T=) c.421+20153T= (n.421+20153T=) n.809+20153T= | |
6 | g.15572906A>G | CA821181872 | DTNBP1 | c.511+20153T>C (n.511+20153T>C) c.460+20153T>C (n.460+20153T>C) c.43+12813T>C (n.43+12813T>C) c.*509+20153T>C (n.*509+20153T>C) c.*421+20153T>C (n.*421+20153T>C) c.406+20153T>C (n.406+20153T>C) c.268+20153T>C (n.268+20153T>C) n.839+20153T>C c.472+20153T>C (n.472+20153T>C) c.421+20153T>C (n.421+20153T>C) n.809+20153T>C | dbSNP |