Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.56565262G>A | CA516701405 | UBQLN2 | c.1389G>A (p.Gln463=) c.273+1522G>A (n.273+1522G>A) | |
X | g.56565262G>C | CA413380480 | UBQLN2 | c.1389G>C (p.Gln463His) c.273+1522G>C (n.273+1522G>C) | |
X | g.56565262G>T | CA413380481 | UBQLN2 | c.1389G>T (p.Gln463His) c.273+1522G>T (n.273+1522G>T) | |
X | g.56565263A>C | CA413380482 | UBQLN2 | c.1390A>C (p.Thr464Pro) c.273+1523A>C (n.273+1523A>C) | |
X | g.56565263A>G | CA413380483 | UBQLN2 | c.1390A>G (p.Thr464Ala) c.273+1523A>G (n.273+1523A>G) | |
X | g.56565263A>T | CA413380484 | UBQLN2 | c.1390A>T (p.Thr464Ser) c.273+1523A>T (n.273+1523A>T) | |
X | g.56565264C>A | CA413380486 | UBQLN2 | c.1391C>A (p.Thr464Lys) c.273+1524C>A (n.273+1524C>A) | |
X | g.56565264C= | CA2431031034 | UBQLN2 | c.1391C= (p.Thr464=) c.273+1524C= (n.273+1524C=) | |
X | g.56565264C>G | CA413380485 | UBQLN2 | c.1391C>G (p.Thr464Arg) c.273+1524C>G (n.273+1524C>G) | |
X | g.56565264C>T | CA10430159 | UBQLN2 | c.1391C>T (p.Thr464Ile) c.273+1524C>T (n.273+1524C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.56565265A>C | CA516701406 | UBQLN2 | c.1392A>C (p.Thr464=) c.273+1525A>C (n.273+1525A>C) | gnomAD v4 |
X | g.56565265A>G | CA516701407 | UBQLN2 | c.1392A>G (p.Thr464=) c.273+1525A>G (n.273+1525A>G) | |
X | g.56565265A>T | CA516701408 | UBQLN2 | c.1392A>T (p.Thr464=) c.273+1525A>T (n.273+1525A>T) | |
X | g.56565266T>A | CA413380487 | UBQLN2 | c.1393T>A (p.Leu465Ile) c.273+1526T>A (n.273+1526T>A) | |
X | g.56565266T>C | CA516701409 | UBQLN2 | c.1393T>C (p.Leu465=) c.273+1526T>C (n.273+1526T>C) | |
X | g.56565266T>G | CA413380488 | UBQLN2 | c.1393T>G (p.Leu465Val) c.273+1526T>G (n.273+1526T>G) | |
X | g.56565267T>A | CA413380489 | UBQLN2 | c.1394T>A (p.Leu465Ter) c.273+1527T>A (n.273+1527T>A) | |
X | g.56565267T>C | CA413380490 | UBQLN2 | c.1394T>C (p.Leu465Ser) c.273+1527T>C (n.273+1527T>C) | |
X | g.56565267T>G | CA413380491 | UBQLN2 | c.1394T>G (p.Leu465Ter) c.273+1527T>G (n.273+1527T>G) | |
X | g.56565268A>C | CA413380492 | UBQLN2 | c.1395A>C (p.Leu465Phe) c.273+1528A>C (n.273+1528A>C) | |
X | g.56565268A>G | CA516701410 | UBQLN2 | c.1395A>G (p.Leu465=) c.273+1528A>G (n.273+1528A>G) | |
X | g.56565268A>T | CA413380493 | UBQLN2 | c.1395A>T (p.Leu465Phe) c.273+1528A>T (n.273+1528A>T) | |
X | g.56565269G>A | CA413380494 | UBQLN2 | c.1396G>A (p.Ala466Thr) c.273+1529G>A (n.273+1529G>A) | gnomAD v4 |
X | g.56565269G>C | CA413380495 | UBQLN2 | c.1396G>C (p.Ala466Pro) c.273+1529G>C (n.273+1529G>C) | |
X | g.56565269G>T | CA413380496 | UBQLN2 | c.1396G>T (p.Ala466Ser) c.273+1529G>T (n.273+1529G>T) | |
X | g.56565270C>A | CA413380497 | UBQLN2 | c.1397C>A (p.Ala466Asp) c.273+1530C>A (n.273+1530C>A) | |
X | g.56565270C= | CA2431031035 | UBQLN2 | c.1397C= (p.Ala466=) c.273+1530C= (n.273+1530C=) | |
X | g.56565270C>G | CA10430160 | UBQLN2 | c.1397C>G (p.Ala466Gly) c.273+1530C>G (n.273+1530C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.56565270C>T | CA413380498 | UBQLN2 | c.1397C>T (p.Ala466Val) c.273+1530C>T (n.273+1530C>T) | |
X | g.56565271C>A | CA516701411 | UBQLN2 | c.1398C>A (p.Ala466=) c.273+1531C>A (n.273+1531C>A) | |
X | g.56565271C>G | CA516701412 | UBQLN2 | c.1398C>G (p.Ala466=) c.273+1531C>G (n.273+1531C>G) | |
X | g.56565271C>T | CA516701413 | UBQLN2 | c.1398C>T (p.Ala466=) c.273+1531C>T (n.273+1531C>T) | |
X | g.56565272A>C | CA413380499 | UBQLN2 | c.1399A>C (p.Thr467Pro) c.273+1532A>C (n.273+1532A>C) | |
X | g.56565272A>G | CA413380501 | UBQLN2 | c.1399A>G (p.Thr467Ala) c.273+1532A>G (n.273+1532A>G) | |
X | g.56565272A>T | CA413380500 | UBQLN2 | c.1399A>T (p.Thr467Ser) c.273+1532A>T (n.273+1532A>T) | |
X | g.56565273C>A | CA413380502 | UBQLN2 | c.1400C>A (p.Thr467Asn) c.273+1533C>A (n.273+1533C>A) | |
X | g.56565273C= | CA2431031036 | UBQLN2 | c.1400C= (p.Thr467=) c.273+1533C= (n.273+1533C=) | |
X | g.56565273C>G | CA413380504 | UBQLN2 | c.1400C>G (p.Thr467Ser) c.273+1533C>G (n.273+1533C>G) | gnomAD v4 |
X | g.56565273C>T | CA413380503 | UBQLN2 | c.1400C>T (p.Thr467Ile) c.273+1533C>T (n.273+1533C>T) | dbSNP |
X | g.56565274T>A | CA516701414 | UBQLN2 | c.1401T>A (p.Thr467=) c.273+1534T>A (n.273+1534T>A) | |
X | g.56565274T>C | CA516701415 | UBQLN2 | c.1401T>C (p.Thr467=) c.273+1534T>C (n.273+1534T>C) | gnomAD v4 |
X | g.56565274T>G | CA516701416 | UBQLN2 | c.1401T>G (p.Thr467=) c.273+1534T>G (n.273+1534T>G) | |
X | g.56565275G>A | CA413380505 | UBQLN2 | c.1402G>A (p.Glu468Lys) c.273+1535G>A (n.273+1535G>A) | |
X | g.56565275G>C | CA413380506 | UBQLN2 | c.1402G>C (p.Glu468Gln) c.273+1535G>C (n.273+1535G>C) | |
X | g.56565275G>T | CA413380507 | UBQLN2 | c.1402G>T (p.Glu468Ter) c.273+1535G>T (n.273+1535G>T) | |
X | g.56565276A>C | CA413380508 | UBQLN2 | c.1403A>C (p.Glu468Ala) c.273+1536A>C (n.273+1536A>C) | |
X | g.56565276A>G | CA413380509 | UBQLN2 | c.1403A>G (p.Glu468Gly) c.273+1536A>G (n.273+1536A>G) | |
X | g.56565276A>T | CA413380510 | UBQLN2 | c.1403A>T (p.Glu468Val) c.273+1536A>T (n.273+1536A>T) | |
X | g.56565277A>C | CA413380511 | UBQLN2 | c.1404A>C (p.Glu468Asp) c.273+1537A>C (n.273+1537A>C) | |
X | g.56565277A>G | CA516701417 | UBQLN2 | c.1404A>G (p.Glu468=) c.273+1537A>G (n.273+1537A>G) |