Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.56565337_56565364delinsTATAGGCCCTGTAGGCCCAGTCACCCCC | CA2431031062 | UBQLN2 | c.1464_1491delinsTATAGGCCCTGTAGGCCCAGTCACCCCC (p.Ala488=) c.273+1597_273+1624delinsTATAGGCCCTGTAGGCCCAGTCACCCCC (n.273+1597_273+1624delinsTATAGGCCCTGTAGGCCCAGTCACCCCC) | |
X | g.56565346_56565372del | CA641899467 | UBQLN2 | c.1473_1499del (p.Val492_Pro500del) c.273+1606_273+1632del (n.273+1606_273+1632del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.56565355_56565381del | CA2693885049 | UBQLN2 | c.1482_1508del (p.Val495_Pro503del) c.273+1615_273+1641del (n.273+1615_273+1641del) | gnomAD v4 |
X | g.56565364del | CA2821061413 | UBQLN2 | c.1491del (p.Ile498Ter) c.273+1624del (n.273+1624del) | |
X | g.56565360_56565369delinsCCCCCATAGG | CA2431031068 | UBQLN2 | c.1487_1496delinsCCCCCATAGG (p.Thr496=) c.273+1620_273+1629delinsCCCCCATAGG (n.273+1620_273+1629delinsCCCCCATAGG) | |
X | g.56565373_56565381del | CA10430178 | UBQLN2 | c.1500_1508del (p.Ile501_Pro503del) c.273+1633_273+1641del (n.273+1633_273+1641del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.56565362C>A | CA413380673 | UBQLN2 | c.1489C>A (p.Pro497Thr) c.273+1622C>A (n.273+1622C>A) | |
X | g.56565362C= | CA2431031070 | UBQLN2 | c.1489C= (p.Pro497=) c.273+1622C= (n.273+1622C=) | |
X | g.56565362C>G | CA413380672 | UBQLN2 | c.1489C>G (p.Pro497Ala) c.273+1622C>G (n.273+1622C>G) | |
X | g.56565362C>T | CA259705 | UBQLN2 | c.1489C>T (p.Pro497Ser) c.273+1622C>T (n.273+1622C>T) | ClinVar dbSNP |
X | g.56565370_56565423del | CA2693885050 | UBQLN2 | c.1497_1550del (p.Pro500_Gly517del) c.273+1630_273+1683del (n.273+1630_273+1683del) | gnomAD v4 |
X | g.56565363C>A | CA259703 | UBQLN2 | c.1490C>A (p.Pro497His) c.273+1623C>A (n.273+1623C>A) | ClinVar dbSNP |
X | g.56565363C= | CA2431031071 | UBQLN2 | c.1490C= (p.Pro497=) c.273+1623C= (n.273+1623C=) | |
X | g.56565363C>G | CA413380674 | UBQLN2 | c.1490C>G (p.Pro497Arg) c.273+1623C>G (n.273+1623C>G) | ClinVar dbSNP |
X | g.56565363C>T | CA270965 | UBQLN2 | c.1490C>T (p.Pro497Leu) c.273+1623C>T (n.273+1623C>T) | ClinVar dbSNP |
X | g.56565364C>A | CA516701490 | UBQLN2 | c.1491C>A (p.Pro497=) c.273+1624C>A (n.273+1624C>A) | |
X | g.56565364C= | CA2431031072 | UBQLN2 | c.1491C= (p.Pro497=) c.273+1624C= (n.273+1624C=) | |
X | g.56565364C>G | CA330041896 | UBQLN2 | c.1491C>G (p.Pro497=) c.273+1624C>G (n.273+1624C>G) | dbSNP |
X | g.56565364C>T | CA516701491 | UBQLN2 | c.1491C>T (p.Pro497=) c.273+1624C>T (n.273+1624C>T) | |
X | g.56565365A>C | CA413380675 | UBQLN2 | c.1492A>C (p.Ile498Leu) c.273+1625A>C (n.273+1625A>C) | |
X | g.56565365A>G | CA413380677 | UBQLN2 | c.1492A>G (p.Ile498Val) c.273+1625A>G (n.273+1625A>G) | |
X | g.56565365A>T | CA413380676 | UBQLN2 | c.1492A>T (p.Ile498Leu) c.273+1625A>T (n.273+1625A>T) | |
X | g.56565366T>A | CA413380678 | UBQLN2 | c.1493T>A (p.Ile498Lys) c.273+1626T>A (n.273+1626T>A) | |
X | g.56565366T>C | CA413380680 | UBQLN2 | c.1493T>C (p.Ile498Thr) c.273+1626T>C (n.273+1626T>C) | |
X | g.56565366T>G | CA413380679 | UBQLN2 | c.1493T>G (p.Ile498Arg) c.273+1626T>G (n.273+1626T>G) | |
X | g.56565367A>C | CA516701493 | UBQLN2 | c.1494A>C (p.Ile498=) c.273+1627A>C (n.273+1627A>C) | |
X | g.56565367A>G | CA413380681 | UBQLN2 | c.1494A>G (p.Ile498Met) c.273+1627A>G (n.273+1627A>G) | |
X | g.56565367A>T | CA516701492 | UBQLN2 | c.1494A>T (p.Ile498=) c.273+1627A>T (n.273+1627A>T) | |
X | g.56565368G>A | CA413380682 | UBQLN2 | c.1495G>A (p.Gly499Ser) c.273+1628G>A (n.273+1628G>A) | |
X | g.56565368G>C | CA413380683 | UBQLN2 | c.1495G>C (p.Gly499Arg) c.273+1628G>C (n.273+1628G>C) | |
X | g.56565368G>T | CA413380684 | UBQLN2 | c.1495G>T (p.Gly499Cys) c.273+1628G>T (n.273+1628G>T) | |
X | g.56565369G>A | CA413380685 | UBQLN2 | c.1496G>A (p.Gly499Asp) c.273+1629G>A (n.273+1629G>A) | ClinVar dbSNP |
X | g.56565369G>C | CA413380686 | UBQLN2 | c.1496G>C (p.Gly499Ala) c.273+1629G>C (n.273+1629G>C) | |
X | g.56565369G>T | CA413380687 | UBQLN2 | c.1496G>T (p.Gly499Val) c.273+1629G>T (n.273+1629G>T) | |
X | g.56565370C>A | CA516701494 | UBQLN2 | c.1497C>A (p.Gly499=) c.273+1630C>A (n.273+1630C>A) | |
X | g.56565370C= | CA2431031073 | UBQLN2 | c.1497C= (p.Gly499=) c.273+1630C= (n.273+1630C=) | |
X | g.56565370C>G | CA516701495 | UBQLN2 | c.1497C>G (p.Gly499=) c.273+1630C>G (n.273+1630C>G) | |
X | g.56565370C>T | CA10430179 | UBQLN2 | c.1497C>T (p.Gly499=) c.273+1630C>T (n.273+1630C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.56565371C>A | CA413380688 | UBQLN2 | c.1498C>A (p.Pro500Thr) c.273+1631C>A (n.273+1631C>A) | |
X | g.56565371C>G | CA413380689 | UBQLN2 | c.1498C>G (p.Pro500Ala) c.273+1631C>G (n.273+1631C>G) | |
X | g.56565371C>T | CA413380690 | UBQLN2 | c.1498C>T (p.Pro500Ser) c.273+1631C>T (n.273+1631C>T) | gnomAD v4 |
X | g.56565372C>A | CA413380693 | UBQLN2 | c.1499C>A (p.Pro500His) c.273+1632C>A (n.273+1632C>A) | ClinVar dbSNP |
X | g.56565372C= | CA2431031074 | UBQLN2 | c.1499C= (p.Pro500=) c.273+1632C= (n.273+1632C=) | |
X | g.56565372C>G | CA413380691 | UBQLN2 | c.1499C>G (p.Pro500Arg) c.273+1632C>G (n.273+1632C>G) | |
X | g.56565372C>T | CA413380692 | UBQLN2 | c.1499C>T (p.Pro500Leu) c.273+1632C>T (n.273+1632C>T) | |
X | g.56565373C>A | CA516701497 | UBQLN2 | c.1500C>A (p.Pro500=) c.273+1633C>A (n.273+1633C>A) | |
X | g.56565373C= | CA2431031075 | UBQLN2 | c.1500C= (p.Pro500=) c.273+1633C= (n.273+1633C=) | |
X | g.56565373C>G | CA516701496 | UBQLN2 | c.1500C>G (p.Pro500=) c.273+1633C>G (n.273+1633C>G) | |
X | g.56565373C>T | CA10430180 | UBQLN2 | c.1500C>T (p.Pro500=) c.273+1633C>T (n.273+1633C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.56565374A= | CA2431031076 | UBQLN2 | c.1501A= (p.Ile501=) c.273+1634A= (n.273+1634A=) |