Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.30313738G>A | CA468798035 | MTPAP | c.1620C>T (p.Ser540=) n.3375C>T | COSMIC COSMIC |
10 | g.30313738G>C | CA468798036 | MTPAP | c.1620C>G (p.Ser540=) n.3375C>G | gnomAD v4 |
10 | g.30313738G>T | CA468798037 | MTPAP | c.1620C>A (p.Ser540=) n.3375C>A | |
10 | g.30313739G>A | CA376434221 | MTPAP | c.1619C>T (p.Ser540Phe) n.3374C>T | |
10 | g.30313739G>C | CA376434222 | MTPAP | c.1619C>G (p.Ser540Cys) n.3374C>G | dbSNP |
10 | g.30313739G>T | CA376434223 | MTPAP | c.1619C>A (p.Ser540Tyr) n.3374C>A | |
10 | g.30313740A>C | CA376434225 | MTPAP | c.1618T>G (p.Ser540Ala) n.3373T>G | |
10 | g.30313740A>G | CA376434226 | MTPAP | c.1618T>C (p.Ser540Pro) n.3373T>C | |
10 | g.30313740A>T | CA376434227 | MTPAP | c.1618T>A (p.Ser540Thr) n.3373T>A | |
10 | g.30313741C>A | CA376434228 | MTPAP | c.1617G>T (p.Lys539Asn) n.3372G>T | |
10 | g.30313741C= | CA1899313976 | MTPAP | c.1617G= (p.Lys539=) n.3372G= | |
10 | g.30313741C>G | CA376434229 | MTPAP | c.1617G>C (p.Lys539Asn) n.3372G>C | |
10 | g.30313741C>T | CA468798039 | MTPAP | c.1617G>A (p.Lys539=) n.3372G>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313742T>A | CA376434232 | MTPAP | c.1616A>T (p.Lys539Met) n.3371A>T | |
10 | g.30313742T>C | CA376434231 | MTPAP | c.1616A>G (p.Lys539Arg) n.3371A>G | gnomAD v4 |
10 | g.30313742T>G | CA376434230 | MTPAP | c.1616A>C (p.Lys539Thr) n.3371A>C | |
10 | g.30313743T>A | CA376434233 | MTPAP | c.1615A>T (p.Lys539Ter) n.3370A>T | |
10 | g.30313743T>C | CA376434235 | MTPAP | c.1615A>G (p.Lys539Glu) n.3370A>G | |
10 | g.30313743T>G | CA376434237 | MTPAP | c.1615A>C (p.Lys539Gln) n.3370A>C | |
10 | g.30313744T>A | CA376434239 | MTPAP | c.1614A>T (p.Arg538Ser) n.3369A>T | |
10 | g.30313744T>C | CA468798040 | MTPAP | c.1614A>G (p.Arg538=) n.3369A>G | |
10 | g.30313744T>G | CA376434240 | MTPAP | c.1614A>C (p.Arg538Ser) n.3369A>C | |
10 | g.30313745_30313746del | CA2608695841 | MTPAP | c.1613_1614del (p.Arg538LysfsTer10) n.3368_3369del | gnomAD v4 |
10 | g.30313745C>A | CA376434244 | MTPAP | c.1613G>T (p.Arg538Ile) n.3368G>T | |
10 | g.30313745C>G | CA376434246 | MTPAP | c.1613G>C (p.Arg538Thr) n.3368G>C | gnomAD v4 |
10 | g.30313745C>T | CA376434248 | MTPAP | c.1613G>A (p.Arg538Lys) n.3368G>A | |
10 | g.30313746T>A | CA376434249 | MTPAP | c.1612A>T (p.Arg538Ter) n.3367A>T | |
10 | g.30313746T>C | CA376434252 | MTPAP | c.1612A>G (p.Arg538Gly) n.3367A>G | |
10 | g.30313746T>G | CA468798041 | MTPAP | c.1612A>C (p.Arg538=) n.3367A>C | ClinVar |
10 | g.30313747G>A | CA468798042 | MTPAP | c.1611C>T (p.Asn537=) n.3366C>T | |
10 | g.30313747G>C | CA376434254 | MTPAP | c.1611C>G (p.Asn537Lys) n.3366C>G | |
10 | g.30313747G>T | CA376434258 | MTPAP | c.1611C>A (p.Asn537Lys) n.3366C>A | |
10 | g.30313748T>A | CA376434260 | MTPAP | c.1610A>T (p.Asn537Ile) n.3365A>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.30313748T>C | CA376434261 | MTPAP | c.1610A>G (p.Asn537Ser) n.3365A>G | gnomAD v4 |
10 | g.30313748T>G | CA376434266 | MTPAP | c.1610A>C (p.Asn537Thr) n.3365A>C | |
10 | g.30313748T= | CA1899313977 | MTPAP | c.1610A= (p.Asn537=) n.3365A= | |
10 | g.30313749T>A | CA376434269 | MTPAP | c.1609A>T (p.Asn537Tyr) n.3364A>T | |
10 | g.30313749T>C | CA376434273 | MTPAP | c.1609A>G (p.Asn537Asp) n.3364A>G | |
10 | g.30313749T>G | CA376434272 | MTPAP | c.1609A>C (p.Asn537His) n.3364A>C | |
10 | g.30313750T>A | CA468798043 | MTPAP | c.1608A>T (p.Pro536=) n.3363A>T | |
10 | g.30313750T>C | CA468798044 | MTPAP | c.1608A>G (p.Pro536=) n.3363A>G | dbSNP gnomAD v4 |
10 | g.30313750T>G | CA468798045 | MTPAP | c.1608A>C (p.Pro536=) n.3363A>C | |
10 | g.30313750T= | CA1899313978 | MTPAP | c.1608A= (p.Pro536=) n.3363A= | |
10 | g.30313751G>A | CA376434274 | MTPAP | c.1607C>T (p.Pro536Leu) n.3362C>T | gnomAD v4 |
10 | g.30313751G>C | CA5458918 | MTPAP | c.1607C>G (p.Pro536Arg) n.3362C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313751G= | CA1899313979 | MTPAP | c.1607C= (p.Pro536=) n.3362C= | |
10 | g.30313751G>T | CA376434277 | MTPAP | c.1607C>A (p.Pro536Gln) n.3362C>A | |
10 | g.30313752G>A | CA376434279 | MTPAP | c.1606C>T (p.Pro536Ser) n.3361C>T | |
10 | g.30313752G>C | CA376434281 | MTPAP | c.1606C>G (p.Pro536Ala) n.3361C>G | ClinVar dbSNP gnomAD v4 |
10 | g.30313752G>T | CA376434283 | MTPAP | c.1606C>A (p.Pro536Thr) n.3361C>A |