Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.30313733G>A | CA376434201 | MTPAP | c.1625C>T (p.Thr542Ile) n.3380C>T | gnomAD v4 COSMIC COSMIC |
10 | g.30313733G>C | CA376434202 | MTPAP | c.1625C>G (p.Thr542Ser) n.3380C>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.30313733G= | CA1899313974 | MTPAP | c.1625C= (p.Thr542=) n.3380C= | |
10 | g.30313733G>T | CA376434204 | MTPAP | c.1625C>A (p.Thr542Asn) n.3380C>A | |
10 | g.30313734T>A | CA376434206 | MTPAP | c.1624A>T (p.Thr542Ser) n.3379A>T | |
10 | g.30313734T>C | CA5458917 | MTPAP | c.1624A>G (p.Thr542Ala) n.3379A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313734T>G | CA376434207 | MTPAP | c.1624A>C (p.Thr542Pro) n.3379A>C | COSMIC COSMIC |
10 | g.30313734T= | CA1899313975 | MTPAP | c.1624A= (p.Thr542=) n.3379A= | |
10 | g.30313735A>C | CA376434211 | MTPAP | c.1623T>G (p.Phe541Leu) n.3378T>G | |
10 | g.30313735A>G | CA468798034 | MTPAP | c.1623T>C (p.Phe541=) n.3378T>C | |
10 | g.30313735A>T | CA376434209 | MTPAP | c.1623T>A (p.Phe541Leu) n.3378T>A | |
10 | g.30313736A>C | CA376434213 | MTPAP | c.1622T>G (p.Phe541Cys) n.3377T>G | |
10 | g.30313736A>G | CA376434214 | MTPAP | c.1622T>C (p.Phe541Ser) n.3377T>C | |
10 | g.30313736A>T | CA376434216 | MTPAP | c.1622T>A (p.Phe541Tyr) n.3377T>A | |
10 | g.30313737A>C | CA376434218 | MTPAP | c.1621T>G (p.Phe541Val) n.3376T>G | |
10 | g.30313737A>G | CA376434219 | MTPAP | c.1621T>C (p.Phe541Leu) n.3376T>C | COSMIC COSMIC |
10 | g.30313737A>T | CA376434220 | MTPAP | c.1621T>A (p.Phe541Ile) n.3376T>A | |
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 |