Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21011305T>A | CA346004453 | APOB | c.5563A>T (p.Thr1855Ser) | |
2 | g.21011305T>C | CA062219 | APOB | c.5563A>G (p.Thr1855Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21011305T>G | CA346004454 | APOB | c.5563A>C (p.Thr1855Pro) | |
2 | g.21011305T= | CA2493477125 | APOB | c.5563A= (p.Thr1855=) | |
2 | g.21011306G>A | CA425346580 | APOB | c.5562C>T (p.Asp1854=) | |
2 | g.21011306G>C | CA346004455 | APOB | c.5562C>G (p.Asp1854Glu) | |
2 | g.21011306G= | CA2493477126 | APOB | c.5562C= (p.Asp1854=) | |
2 | g.21011306G>T | CA022863 | APOB | c.5562C>A (p.Asp1854Glu) | ClinVar dbSNP |
2 | g.21011307T>A | CA346004458 | APOB | c.5561A>T (p.Asp1854Val) | |
2 | g.21011307T>C | CA346004456 | APOB | c.5561A>G (p.Asp1854Gly) | |
2 | g.21011307T>G | CA346004457 | APOB | c.5561A>C (p.Asp1854Ala) | |
2 | g.21011308C>A | CA346004459 | APOB | c.5560G>T (p.Asp1854Tyr) | |
2 | g.21011308C= | CA2493477127 | APOB | c.5560G= (p.Asp1854=) | |
2 | g.21011308C>G | CA346004460 | APOB | c.5560G>C (p.Asp1854His) | |
2 | g.21011308C>T | CA062216 | APOB | c.5560G>A (p.Asp1854Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21011309T>A | CA425346588 | APOB | c.5559A>T (p.Ala1853=) | |
2 | g.21011309T>C | CA425346589 | APOB | c.5559A>G (p.Ala1853=) | |
2 | g.21011309T>G | CA425346590 | APOB | c.5559A>C (p.Ala1853=) | |
2 | g.21011309_21011317delinsTGCTTTATA | CA2493477128 | APOB | c.5551_5559delinsTATAAAGCA (p.Tyr1851=) | |
2 | g.21011310G>A | CA346004461 | APOB | c.5558C>T (p.Ala1853Val) | |
2 | g.21011310G>C | CA346004462 | APOB | c.5558C>G (p.Ala1853Gly) | |
2 | g.21011310G>T | CA346004463 | APOB | c.5558C>A (p.Ala1853Glu) | |
2 | g.21011314_21011321del | CA531312759 | APOB | c.5551_5558del (p.Tyr1851ArgfsTer5) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21011311C>A | CA346004465 | APOB | c.5557G>T (p.Ala1853Ser) | gnomAD v4 |
2 | g.21011311C>G | CA346004466 | APOB | c.5557G>C (p.Ala1853Pro) | |
2 | g.21011311C>T | CA346004464 | APOB | c.5557G>A (p.Ala1853Thr) | |
2 | g.21011312T>A | CA346004468 | APOB | c.5556A>T (p.Lys1852Asn) | |
2 | g.21011312T>C | CA425346598 | APOB | c.5556A>G (p.Lys1852=) | dbSNP |
2 | g.21011312T>G | CA346004467 | APOB | c.5556A>C (p.Lys1852Asn) | |
2 | g.21011312T= | CA2493477129 | APOB | c.5556A= (p.Lys1852=) | |
2 | g.21011313T>A | CA346004469 | APOB | c.5555A>T (p.Lys1852Ile) | |
2 | g.21011313T>C | CA346004470 | APOB | c.5555A>G (p.Lys1852Arg) | gnomAD v4 |
2 | g.21011313T>G | CA346004471 | APOB | c.5555A>C (p.Lys1852Thr) | |
2 | g.21011314T>A | CA346004472 | APOB | c.5554A>T (p.Lys1852Ter) | |
2 | g.21011314T>C | CA346004473 | APOB | c.5554A>G (p.Lys1852Glu) | |
2 | g.21011314T>G | CA346004474 | APOB | c.5554A>C (p.Lys1852Gln) | |
2 | g.21011315A= | CA2493477130 | APOB | c.5553T= (p.Tyr1851=) | |
2 | g.21011315A>C | CA346004475 | APOB | c.5553T>G (p.Tyr1851Ter) | |
2 | g.21011315A>G | CA43506571 | APOB | c.5553T>C (p.Tyr1851=) | dbSNP |
2 | g.21011315A>T | CA346004476 | APOB | c.5553T>A (p.Tyr1851Ter) | |
2 | g.21011316T>A | CA346004477 | APOB | c.5552A>T (p.Tyr1851Phe) | |
2 | g.21011316T>C | CA062213 | APOB | c.5552A>G (p.Tyr1851Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21011316T>G | CA346004478 | APOB | c.5552A>C (p.Tyr1851Ser) | ClinVar |
2 | g.21011316T= | CA2493477131 | APOB | c.5552A= (p.Tyr1851=) | |
2 | g.21011317A>C | CA346004481 | APOB | c.5551T>G (p.Tyr1851Asp) | |
2 | g.21011317A>G | CA346004479 | APOB | c.5551T>C (p.Tyr1851His) | |
2 | g.21011317A>T | CA346004480 | APOB | c.5551T>A (p.Tyr1851Asn) | |
2 | g.21011318G>A | CA425346608 | APOB | c.5550C>T (p.Ser1850=) | dbSNP |
2 | g.21011318G>C | CA346004482 | APOB | c.5550C>G (p.Ser1850Arg) | gnomAD v4 |
2 | g.21011318G= | CA2493477132 | APOB | c.5550C= (p.Ser1850=) |