Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.95308045_95308046del | CA2565661635 | PON1 | c.665_666del (p.Phe222CysfsTer2) c.*390_*391del (n.*390_*391del) | |
7 | g.95308045A>C | CA368237463 | PON1 | c.664T>G (p.Phe222Val) c.*389T>G (n.*389T>G) | |
7 | g.95308045A>G | CA368237468 | PON1 | c.664T>C (p.Phe222Leu) c.*389T>C (n.*389T>C) | |
7 | g.95308045A>T | CA368237470 | PON1 | c.664T>A (p.Phe222Ile) c.*389T>A (n.*389T>A) | |
7 | g.95308046A>C | CA368237472 | PON1 | c.663T>G (p.Asp221Glu) c.*388T>G (n.*388T>G) | |
7 | g.95308046A>G | CA456495284 | PON1 | c.663T>C (p.Asp221=) c.*388T>C (n.*388T>C) | gnomAD v4 |
7 | g.95308046A>T | CA368237473 | PON1 | c.663T>A (p.Asp221Glu) c.*388T>A (n.*388T>A) | |
7 | g.95308047T>A | CA368237474 | PON1 | c.662A>T (p.Asp221Val) c.*387A>T (n.*387A>T) | |
7 | g.95308047T>C | CA368237475 | PON1 | c.662A>G (p.Asp221Gly) c.*387A>G (n.*387A>G) | |
7 | g.95308047T>G | CA368237477 | PON1 | c.662A>C (p.Asp221Ala) c.*387A>C (n.*387A>C) | |
7 | g.95308048C>A | CA368237478 | PON1 | c.661G>T (p.Asp221Tyr) c.*386G>T (n.*386G>T) | |
7 | g.95308048C= | CA1727174750 | PON1 | c.661G= (p.Asp221=) c.*386G= (n.*386G=) | |
7 | g.95308048C>G | CA368237480 | PON1 | c.661G>C (p.Asp221His) c.*386G>C (n.*386G>C) | |
7 | g.95308048C>T | CA4350235 | PON1 | c.661G>A (p.Asp221Asn) c.*386G>A (n.*386G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.95308049A>C | CA368237484 | PON1 | c.660T>G (p.Phe220Leu) c.*385T>G (n.*385T>G) | |
7 | g.95308049A>G | CA456495285 | PON1 | c.660T>C (p.Phe220=) c.*385T>C (n.*385T>C) | gnomAD v4 |
7 | g.95308049A>T | CA368237486 | PON1 | c.660T>A (p.Phe220Leu) c.*385T>A (n.*385T>A) | |
7 | g.95308050A>C | CA368237488 | PON1 | c.659T>G (p.Phe220Cys) c.*384T>G (n.*384T>G) | |
7 | g.95308050A>G | CA368237490 | PON1 | c.659T>C (p.Phe220Ser) c.*384T>C (n.*384T>C) | COSMIC |
7 | g.95308050A>T | CA368237492 | PON1 | c.659T>A (p.Phe220Tyr) c.*384T>A (n.*384T>A) | |
7 | g.95308050_95308054del | CA2536382301 | PON1 | c.655_659del (p.Gly219Ter) c.*380_*384del (n.*380_*384del) | |
7 | g.95308051A>C | CA368237495 | PON1 | c.658T>G (p.Phe220Val) c.*383T>G (n.*383T>G) | |
7 | g.95308051A>G | CA368237496 | PON1 | c.658T>C (p.Phe220Leu) c.*383T>C (n.*383T>C) | |
7 | g.95308051A>T | CA368237498 | PON1 | c.658T>A (p.Phe220Ile) c.*383T>A (n.*383T>A) | |
7 | g.95308052T>A | CA456495286 | PON1 | c.657A>T (p.Gly219=) c.*382A>T (n.*382A>T) | |
7 | g.95308052T>C | CA456495288 | PON1 | c.657A>G (p.Gly219=) c.*382A>G (n.*382A>G) | |
7 | g.95308052T>G | CA456495287 | PON1 | c.657A>C (p.Gly219=) c.*382A>C (n.*382A>C) | |
7 | g.95308052T= | CA1727174752 | PON1 | c.657A= (p.Gly219=) c.*382A= (n.*382A=) | |
7 | g.95308053C>A | CA368237504 | PON1 | c.656G>T (p.Gly219Val) c.*381G>T (n.*381G>T) | |
7 | g.95308053C>G | CA368237500 | PON1 | c.656G>C (p.Gly219Ala) c.*381G>C (n.*381G>C) | |
7 | g.95308053C>T | CA368237502 | PON1 | c.656G>A (p.Gly219Glu) c.*381G>A (n.*381G>A) | |
7 | g.95308054dup | CA844110059 | PON1 | c.656dup (p.Phe220IlefsTer2) c.*381dup (n.*381dup) | dbSNP |
7 | g.95308054del | CA2683802479 | PON1 | c.656del (p.Gly219AspfsTer19) c.*381del (n.*381del) | gnomAD v4 |
7 | g.95308054C>A | CA368237507 | PON1 | c.655G>T (p.Gly219Ter) c.*380G>T (n.*380G>T) | |
7 | g.95308054C= | CA1727174755 | PON1 | c.655G= (p.Gly219=) c.*380G= (n.*380G=) | |
7 | g.95308054C>G | CA368237508 | PON1 | c.655G>C (p.Gly219Arg) c.*380G>C (n.*380G>C) | |
7 | g.95308054C>T | CA4350236 | PON1 | c.655G>A (p.Gly219Arg) c.*380G>A (n.*380G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.95308055T>A | CA368237511 | PON1 | c.654A>T (p.Glu218Asp) c.*379A>T (n.*379A>T) | |
7 | g.95308055T>C | CA456495289 | PON1 | c.654A>G (p.Glu218=) c.*379A>G (n.*379A>G) | |
7 | g.95308055T>G | CA368237512 | PON1 | c.654A>C (p.Glu218Asp) c.*379A>C (n.*379A>C) | |
7 | g.95308056T>A | CA368237514 | PON1 | c.653A>T (p.Glu218Val) c.*378A>T (n.*378A>T) | |
7 | g.95308056T>C | CA368237517 | PON1 | c.653A>G (p.Glu218Gly) c.*378A>G (n.*378A>G) | |
7 | g.95308056T>G | CA368237515 | PON1 | c.653A>C (p.Glu218Ala) c.*378A>C (n.*378A>C) | |
7 | g.95308057C>A | CA368237519 | PON1 | c.652G>T (p.Glu218Ter) c.*377G>T (n.*377G>T) | gnomAD v4 |
7 | g.95308057C= | CA1727174756 | PON1 | c.652G= (p.Glu218=) c.*377G= (n.*377G=) | |
7 | g.95308057C>G | CA368237523 | PON1 | c.652G>C (p.Glu218Gln) c.*377G>C (n.*377G>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.95308057C>T | CA368237525 | PON1 | c.652G>A (p.Glu218Lys) c.*377G>A (n.*377G>A) | |
7 | g.95308058T>A | CA456495290 | PON1 | c.651A>T (p.Ala217=) c.*376A>T (n.*376A>T) | |
7 | g.95308058T>C | CA456495291 | PON1 | c.651A>G (p.Ala217=) c.*376A>G (n.*376A>G) | dbSNP gnomAD v4 |
7 | g.95308058T>G | CA456495292 | PON1 | c.651A>C (p.Ala217=) c.*376A>C (n.*376A>C) |