Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.18543152_18543156dup | CA2580611931 | SEC23B | c.1645_1649dup (p.Gln551ThrfsTer?) c.1591_1595dup (p.Gln533ThrfsTer?) c.169_173dup (p.Gln59ThrfsTer?) | |
20 | g.18543152_18543159delinsGACCGACA | CA2353564568 | SEC23B | c.1645_1652delinsGACCGACA (p.Asp549=) c.1591_1598delinsGACCGACA (p.Asp531=) c.169_176delinsGACCGACA (p.Asp57=) | |
20 | g.18543155_18543161del | CA9778434 | SEC23B | c.1648_1654del (p.Arg550SerfsTer?) c.1594_1600del (p.Arg532SerfsTer?) c.172_178del (p.Arg58SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543155C>A | CA509829571 | SEC23B | c.1648C>A (p.Arg550=) c.1594C>A (p.Arg532=) c.172C>A (p.Arg58=) | |
20 | g.18543155C= | CA2353564570 | SEC23B | c.1648C= (p.Arg550=) c.1594C= (p.Arg532=) c.172C= (p.Arg58=) | |
20 | g.18543155C>G | CA408364218 | SEC23B | c.1648C>G (p.Arg550Gly) c.1594C>G (p.Arg532Gly) c.172C>G (p.Arg58Gly) | gnomAD v4 |
20 | g.18543155C>T | CA234909 | SEC23B | c.1648C>T (p.Arg550Ter) c.1594C>T (p.Arg532Ter) c.172C>T (p.Arg58Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543156G>A | CA9778435 | SEC23B | c.1649G>A (p.Arg550Gln) c.1595G>A (p.Arg532Gln) c.173G>A (p.Arg58Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.18543156G>C | CA408364219 | SEC23B | c.1649G>C (p.Arg550Pro) c.1595G>C (p.Arg532Pro) c.173G>C (p.Arg58Pro) | |
20 | g.18543156G= | CA2353564571 | SEC23B | c.1649G= (p.Arg550=) c.1595G= (p.Arg532=) c.173G= (p.Arg58=) | |
20 | g.18543156G>T | CA408364220 | SEC23B | c.1649G>T (p.Arg550Leu) c.1595G>T (p.Arg532Leu) c.173G>T (p.Arg58Leu) | |
20 | g.18543157A>C | CA509829579 | SEC23B | c.1650A>C (p.Arg550=) c.1596A>C (p.Arg532=) c.174A>C (p.Arg58=) | gnomAD v4 |
20 | g.18543157A>G | CA509829583 | SEC23B | c.1650A>G (p.Arg550=) c.1596A>G (p.Arg532=) c.174A>G (p.Arg58=) | gnomAD v4 |
20 | g.18543157A>T | CA509829580 | SEC23B | c.1650A>T (p.Arg550=) c.1596A>T (p.Arg532=) c.174A>T (p.Arg58=) | |
20 | g.18543158C>A | CA408364221 | SEC23B | c.1651C>A (p.Gln551Lys) c.1597C>A (p.Gln533Lys) c.175C>A (p.Gln59Lys) | |
20 | g.18543158C>G | CA408364222 | SEC23B | c.1651C>G (p.Gln551Glu) c.1597C>G (p.Gln533Glu) c.175C>G (p.Gln59Glu) | |
20 | g.18543158C>T | CA408364223 | SEC23B | c.1651C>T (p.Gln551Ter) c.1597C>T (p.Gln533Ter) c.175C>T (p.Gln59Ter) | gnomAD v4 |
20 | g.18543159A>C | CA408364224 | SEC23B | c.1652A>C (p.Gln551Pro) c.1598A>C (p.Gln533Pro) c.176A>C (p.Gln59Pro) | |
20 | g.18543159A>G | CA408364225 | SEC23B | c.1652A>G (p.Gln551Arg) c.1598A>G (p.Gln533Arg) c.176A>G (p.Gln59Arg) | |
20 | g.18543159A>T | CA408364226 | SEC23B | c.1652A>T (p.Gln551Leu) c.1598A>T (p.Gln533Leu) c.176A>T (p.Gln59Leu) | COSMIC |
20 | g.18543160A= | CA2353564572 | SEC23B | c.1653A= (p.Gln551=) c.1599A= (p.Gln533=) c.177A= (p.Gln59=) | |
20 | g.18543160A>C | CA408364227 | SEC23B | c.1653A>C (p.Gln551His) c.1599A>C (p.Gln533His) c.177A>C (p.Gln59His) | |
20 | g.18543160A>G | CA509829598 | SEC23B | c.1653A>G (p.Gln551=) c.1599A>G (p.Gln533=) c.177A>G (p.Gln59=) | ClinVar |
20 | g.18543160A>T | CA312407072 | SEC23B | c.1653A>T (p.Gln551His) c.1599A>T (p.Gln533His) c.177A>T (p.Gln59His) | dbSNP gnomAD v4 |
20 | g.18543161C>A | CA408364228 | SEC23B | c.1654C>A (p.Leu552Ile) c.1600C>A (p.Leu534Ile) c.178C>A (p.Leu60Ile) | |
20 | g.18543161C>G | CA408364230 | SEC23B | c.1654C>G (p.Leu552Val) c.1600C>G (p.Leu534Val) c.178C>G (p.Leu60Val) | gnomAD v4 |
20 | g.18543161C>T | CA408364229 | SEC23B | c.1654C>T (p.Leu552Phe) c.1600C>T (p.Leu534Phe) c.178C>T (p.Leu60Phe) | ClinVar gnomAD v4 |
20 | g.18543161_18543162delinsCT | CA2353564573 | SEC23B | c.1654_1655delinsCT (p.Leu552=) c.1600_1601delinsCT (p.Leu534=) c.178_179delinsCT (p.Leu60=) | |
20 | g.18543162del | CA9778436 | SEC23B | c.1655del (p.Leu552ProfsTer?) c.1601del (p.Leu534ProfsTer?) c.179del (p.Leu60ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543162T>A | CA408364231 | SEC23B | c.1655T>A (p.Leu552His) c.1601T>A (p.Leu534His) c.179T>A (p.Leu60His) | |
20 | g.18543162T>C | CA408364232 | SEC23B | c.1655T>C (p.Leu552Pro) c.1601T>C (p.Leu534Pro) c.179T>C (p.Leu60Pro) | |
20 | g.18543162T>G | CA408364233 | SEC23B | c.1655T>G (p.Leu552Arg) c.1601T>G (p.Leu534Arg) c.179T>G (p.Leu60Arg) | |
20 | g.18543163C>A | CA509829611 | SEC23B | c.1656C>A (p.Leu552=) c.1602C>A (p.Leu534=) c.180C>A (p.Leu60=) | gnomAD v4 |
20 | g.18543163C= | CA2353564574 | SEC23B | c.1656C= (p.Leu552=) c.1602C= (p.Leu534=) c.180C= (p.Leu60=) | |
20 | g.18543163C>G | CA509829613 | SEC23B | c.1656C>G (p.Leu552=) c.1602C>G (p.Leu534=) c.180C>G (p.Leu60=) | |
20 | g.18543163C>T | CA509829614 | SEC23B | c.1656C>T (p.Leu552=) c.1602C>T (p.Leu534=) c.180C>T (p.Leu60=) | ClinVar dbSNP gnomAD v4 |
20 | g.18543164A>C | CA408364236 | SEC23B | c.1657A>C (p.Ile553Leu) c.1603A>C (p.Ile535Leu) c.181A>C (p.Ile61Leu) | gnomAD v4 |
20 | g.18543164A>G | CA408364234 | SEC23B | c.1657A>G (p.Ile553Val) c.1603A>G (p.Ile535Val) c.181A>G (p.Ile61Val) | |
20 | g.18543164A>T | CA408364235 | SEC23B | c.1657A>T (p.Ile553Phe) c.1603A>T (p.Ile535Phe) c.181A>T (p.Ile61Phe) | |
20 | g.18543165T>A | CA408364237 | SEC23B | c.1658T>A (p.Ile553Asn) c.1604T>A (p.Ile535Asn) c.182T>A (p.Ile61Asn) | |
20 | g.18543165T>C | CA408364238 | SEC23B | c.1658T>C (p.Ile553Thr) c.1604T>C (p.Ile535Thr) c.182T>C (p.Ile61Thr) | |
20 | g.18543165T>G | CA408364239 | SEC23B | c.1658T>G (p.Ile553Ser) c.1604T>G (p.Ile535Ser) c.182T>G (p.Ile61Ser) | |
20 | g.18543165_18543166delinsTC | CA2353564575 | SEC23B | c.1658_1659delinsTC (p.Ile553=) c.1604_1605delinsTC (p.Ile535=) c.182_183delinsTC (p.Ile61=) | |
20 | g.18543166C>A | CA509829625 | SEC23B | c.1659C>A (p.Ile553=) c.1605C>A (p.Ile535=) c.183C>A (p.Ile61=) | |
20 | g.18543166C>G | CA408364240 | SEC23B | c.1659C>G (p.Ile553Met) c.1605C>G (p.Ile535Met) c.183C>G (p.Ile61Met) | |
20 | g.18543166C>T | CA509829629 | SEC23B | c.1659C>T (p.Ile553=) c.1605C>T (p.Ile535=) c.183C>T (p.Ile61=) | |
20 | g.18543167del | CA9778437 | SEC23B | c.1660del (p.Arg554AspfsTer?) c.1606del (p.Arg536AspfsTer?) c.184del (p.Arg62AspfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.18543167C>A | CA509829631 | SEC23B | c.1660C>A (p.Arg554=) c.1606C>A (p.Arg536=) c.184C>A (p.Arg62=) | ClinVar |
20 | g.18543167C= | CA2353564576 | SEC23B | c.1660C= (p.Arg554=) c.1606C= (p.Arg536=) c.184C= (p.Arg62=) | |
20 | g.18543167C>G | CA408364241 | SEC23B | c.1660C>G (p.Arg554Gly) c.1606C>G (p.Arg536Gly) c.184C>G (p.Arg62Gly) |