Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.30313714C>A | CA376434097 | MTPAP | c.1644G>T (p.Lys548Asn) n.3399G>T | |
10 | g.30313714C= | CA1899313965 | MTPAP | c.1644G= (p.Lys548=) n.3399G= | |
10 | g.30313714C>G | CA376434100 | MTPAP | c.1644G>C (p.Lys548Asn) n.3399G>C | |
10 | g.30313714C>T | CA468798025 | MTPAP | c.1644G>A (p.Lys548=) n.3399G>A | dbSNP gnomAD v4 |
10 | g.30313715T>A | CA376434107 | MTPAP | c.1643A>T (p.Lys548Met) n.3398A>T | |
10 | g.30313715T>C | CA5458913 | MTPAP | c.1643A>G (p.Lys548Arg) n.3398A>G | dbSNP ExAC gnomAD v2 |
10 | g.30313715T>G | CA5458912 | MTPAP | c.1643A>C (p.Lys548Thr) n.3398A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313715T= | CA1899313966 | MTPAP | c.1643A= (p.Lys548=) n.3398A= | |
10 | g.30313716T>A | CA376434108 | MTPAP | c.1642A>T (p.Lys548Ter) n.3397A>T | gnomAD v4 |
10 | g.30313716T>C | CA376434111 | MTPAP | c.1642A>G (p.Lys548Glu) n.3397A>G | |
10 | g.30313716T>G | CA376434109 | MTPAP | c.1642A>C (p.Lys548Gln) n.3397A>C | |
10 | g.30313716T= | CA1899313967 | MTPAP | c.1642A= (p.Lys548=) n.3397A= | |
10 | g.30313717A>C | CA376434114 | MTPAP | c.1641T>G (p.Asn547Lys) n.3396T>G | |
10 | g.30313717A>G | CA468798026 | MTPAP | c.1641T>C (p.Asn547=) n.3396T>C | |
10 | g.30313717A>T | CA376434115 | MTPAP | c.1641T>A (p.Asn547Lys) n.3396T>A | |
10 | g.30313717dup | CA592449232 | MTPAP | c.1641dup (p.Lys548Ter) n.3396dup | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313718T>A | CA376434116 | MTPAP | c.1640A>T (p.Asn547Ile) n.3395A>T | |
10 | g.30313718T>C | CA5458914 | MTPAP | c.1640A>G (p.Asn547Ser) n.3395A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313718T>G | CA376434123 | MTPAP | c.1640A>C (p.Asn547Thr) n.3395A>C | |
10 | g.30313718T= | CA1899313968 | MTPAP | c.1640A= (p.Asn547=) n.3395A= | |
10 | g.30313719T>A | CA376434126 | MTPAP | c.1639A>T (p.Asn547Tyr) n.3394A>T | |
10 | g.30313719T>C | CA376434130 | MTPAP | c.1639A>G (p.Asn547Asp) n.3394A>G | |
10 | g.30313719T>G | CA376434135 | MTPAP | c.1639A>C (p.Asn547His) n.3394A>C | |
10 | g.30313720G>A | CA468798027 | MTPAP | c.1638C>T (p.Ser546=) n.3393C>T | |
10 | g.30313720G>C | CA376434141 | MTPAP | c.1638C>G (p.Ser546Arg) n.3393C>G | |
10 | g.30313720G>T | CA376434144 | MTPAP | c.1638C>A (p.Ser546Arg) n.3393C>A | |
10 | g.30313721C>A | CA376434145 | MTPAP | c.1637G>T (p.Ser546Ile) n.3392G>T | |
10 | g.30313721C= | CA1899313969 | MTPAP | c.1637G= (p.Ser546=) n.3392G= | |
10 | g.30313721C>G | CA376434146 | MTPAP | c.1637G>C (p.Ser546Thr) n.3392G>C | |
10 | g.30313721C>T | CA5458915 | MTPAP | c.1637G>A (p.Ser546Asn) n.3392G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313722T>A | CA376434151 | MTPAP | c.1636A>T (p.Ser546Cys) n.3391A>T | |
10 | g.30313722T>C | CA376434150 | MTPAP | c.1636A>G (p.Ser546Gly) n.3391A>G | |
10 | g.30313722T>G | CA376434148 | MTPAP | c.1636A>C (p.Ser546Arg) n.3391A>C | |
10 | g.30313723T>A | CA376434153 | MTPAP | c.1635A>T (p.Lys545Asn) n.3390A>T | |
10 | g.30313723T>C | CA468798028 | MTPAP | c.1635A>G (p.Lys545=) n.3390A>G | |
10 | g.30313723T>G | CA376434155 | MTPAP | c.1635A>C (p.Lys545Asn) n.3390A>C | |
10 | g.30313724T>A | CA376434157 | MTPAP | c.1634A>T (p.Lys545Ile) n.3389A>T | |
10 | g.30313724T>C | CA376434159 | MTPAP | c.1634A>G (p.Lys545Arg) n.3389A>G | dbSNP gnomAD v4 |
10 | g.30313724T>G | CA376434161 | MTPAP | c.1634A>C (p.Lys545Thr) n.3389A>C | |
10 | g.30313724T= | CA1899313970 | MTPAP | c.1634A= (p.Lys545=) n.3389A= | |
10 | g.30313725T>A | CA376434163 | MTPAP | c.1633A>T (p.Lys545Ter) n.3388A>T | |
10 | g.30313725T>C | CA376434165 | MTPAP | c.1633A>G (p.Lys545Glu) n.3388A>G | |
10 | g.30313725T>G | CA376434166 | MTPAP | c.1633A>C (p.Lys545Gln) n.3388A>C | |
10 | g.30313726C>A | CA376434168 | MTPAP | c.1632G>T (p.Lys544Asn) n.3387G>T | |
10 | g.30313726C= | CA1899313971 | MTPAP | c.1632G= (p.Lys544=) n.3387G= | |
10 | g.30313726C>G | CA376434173 | MTPAP | c.1632G>C (p.Lys544Asn) n.3387G>C | |
10 | g.30313726C>T | CA468798029 | MTPAP | c.1632G>A (p.Lys544=) n.3387G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313727T>A | CA376434176 | MTPAP | c.1631A>T (p.Lys544Met) n.3386A>T | |
10 | g.30313727T>C | CA376434177 | MTPAP | c.1631A>G (p.Lys544Arg) n.3386A>G | |
10 | g.30313727T>G | CA376434179 | MTPAP | c.1631A>C (p.Lys544Thr) n.3386A>C | |
10 | g.30313728T>A | CA376434185 | MTPAP | c.1630A>T (p.Lys544Ter) n.3385A>T | |
10 | g.30313728T>C | CA376434182 | MTPAP | c.1630A>G (p.Lys544Glu) n.3385A>G | |
10 | g.30313728T>G | CA376434181 | MTPAP | c.1630A>C (p.Lys544Gln) n.3385A>C | |
10 | g.30313729C>A | CA376434188 | MTPAP | c.1629G>T (p.Lys543Asn) n.3384G>T | |
10 | g.30313729C>G | CA376434186 | MTPAP | c.1629G>C (p.Lys543Asn) n.3384G>C | |
10 | g.30313729C>T | CA468798030 | MTPAP | c.1629G>A (p.Lys543=) n.3384G>A | |
10 | g.30313730T>A | CA376434190 | MTPAP | c.1628A>T (p.Lys543Met) n.3383A>T | |
10 | g.30313730T>C | CA376434192 | MTPAP | c.1628A>G (p.Lys543Arg) n.3383A>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313730T>G | CA5458916 | MTPAP | c.1628A>C (p.Lys543Thr) n.3383A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313730T= | CA1899313972 | MTPAP | c.1628A= (p.Lys543=) n.3383A= | |
10 | g.30313731T>A | CA376434196 | MTPAP | c.1627A>T (p.Lys543Ter) n.3382A>T | |
10 | g.30313731T>C | CA376434198 | MTPAP | c.1627A>G (p.Lys543Glu) n.3382A>G | |
10 | g.30313731T>G | CA376434199 | MTPAP | c.1627A>C (p.Lys543Gln) n.3382A>C | |
10 | g.30313732G>A | CA468798031 | MTPAP | c.1626C>T (p.Thr542=) n.3381C>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313732G>C | CA468798032 | MTPAP | c.1626C>G (p.Thr542=) n.3381C>G | |
10 | g.30313732G= | CA1899313973 | MTPAP | c.1626C= (p.Thr542=) n.3381C= | |
10 | g.30313732G>T | CA468798033 | MTPAP | c.1626C>A (p.Thr542=) n.3381C>A | |
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 | ClinVar 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 | |
10 | g.30313753A>C | CA468798637 | MTPAP | c.1605T>G (p.Ala535=) n.3360T>G | |
10 | g.30313753A>G | CA468798638 | MTPAP | c.1605T>C (p.Ala535=) n.3360T>C | |
10 | g.30313753A>T | CA468798639 | MTPAP | c.1605T>A (p.Ala535=) n.3360T>A | |
10 | g.30313754G>A | CA376434285 | MTPAP | c.1604C>T (p.Ala535Val) n.3359C>T | |
10 | g.30313754G>C | CA376434288 | MTPAP | c.1604C>G (p.Ala535Gly) n.3359C>G | |
10 | g.30313754G>T | CA376434290 | MTPAP | c.1604C>A (p.Ala535Asp) n.3359C>A | |
10 | g.30313755C>A | CA376434291 | MTPAP | c.1603G>T (p.Ala535Ser) n.3358G>T | gnomAD v4 |
10 | g.30313755C>G | CA376434293 | MTPAP | c.1603G>C (p.Ala535Pro) n.3358G>C | dbSNP |
10 | g.30313755C>T | CA376434295 | MTPAP | c.1603G>A (p.Ala535Thr) n.3358G>A | |
10 | g.30313756A>C | CA468798640 | MTPAP | c.1602T>G (p.Ser534=) n.3357T>G | |
10 | g.30313756A>G | CA468798641 | MTPAP | c.1602T>C (p.Ser534=) n.3357T>C | |
10 | g.30313756A>T | CA468798642 | MTPAP | c.1602T>A (p.Ser534=) n.3357T>A | |
10 | g.30313757G>A | CA376434296 | MTPAP | c.1601C>T (p.Ser534Phe) n.3356C>T | gnomAD v4 |
10 | g.30313757G>C | CA376434300 | MTPAP | c.1601C>G (p.Ser534Cys) n.3356C>G | dbSNP |
10 | g.30313757G= | CA1899313980 | MTPAP | c.1601C= (p.Ser534=) n.3356C= | |
10 | g.30313757G>T | CA376434298 | MTPAP | c.1601C>A (p.Ser534Tyr) n.3356C>A | |
10 | g.30313758A= | CA1899313981 | MTPAP | c.1600T= (p.Ser534=) n.3355T= | |
10 | g.30313758A>C | CA376434303 | MTPAP | c.1600T>G (p.Ser534Ala) n.3355T>G | |
10 | g.30313758A>G | CA205300933 | MTPAP | c.1600T>C (p.Ser534Pro) n.3355T>C | dbSNP |
10 | g.30313758A>T | CA376434305 | MTPAP | c.1600T>A (p.Ser534Thr) n.3355T>A | |
10 | g.30313759T>A | CA468798643 | MTPAP | c.1599A>T (p.Pro533=) n.3354A>T | |
10 | g.30313759T>C | CA205300948 | MTPAP | c.1599A>G (p.Pro533=) n.3354A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313759T>G | CA468798644 | MTPAP | c.1599A>C (p.Pro533=) n.3354A>C | |
10 | g.30313759T= | CA1899313982 | MTPAP | c.1599A= (p.Pro533=) n.3354A= | |
10 | g.30313760G>A | CA376434308 | MTPAP | c.1598C>T (p.Pro533Leu) n.3353C>T | |
10 | g.30313760G>C | CA376434310 | MTPAP | c.1598C>G (p.Pro533Arg) n.3353C>G | |
10 | g.30313760G= | CA1899313983 | MTPAP | c.1598C= (p.Pro533=) n.3353C= | |
10 | g.30313760G>T | CA205300949 | MTPAP | c.1598C>A (p.Pro533Gln) n.3353C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313761G>A | CA376434314 | MTPAP | c.1597C>T (p.Pro533Ser) n.3352C>T | ClinVar |
10 | g.30313761G>C | CA376434316 | MTPAP | c.1597C>G (p.Pro533Ala) n.3352C>G | |
10 | g.30313761G>T | CA376434317 | MTPAP | c.1597C>A (p.Pro533Thr) n.3352C>A | |
10 | g.30313762T>A | CA468798645 | MTPAP | c.1596A>T (p.Leu532=) n.3351A>T | |
10 | g.30313762T>C | CA468798647 | MTPAP | c.1596A>G (p.Leu532=) n.3351A>G | gnomAD v4 |
10 | g.30313762T>G | CA468798646 | MTPAP | c.1596A>C (p.Leu532=) n.3351A>C | |
10 | g.30313763A>C | CA376434318 | MTPAP | c.1595T>G (p.Leu532Arg) n.3350T>G | |
10 | g.30313763A>G | CA376434319 | MTPAP | c.1595T>C (p.Leu532Pro) n.3350T>C | gnomAD v4 |
10 | g.30313763A>T | CA376434320 | MTPAP | c.1595T>A (p.Leu532Gln) n.3350T>A | |
10 | g.30313764G>A | CA468798648 | MTPAP | c.1594C>T (p.Leu532=) n.3349C>T | gnomAD v4 |
10 | g.30313764G>C | CA205300951 | MTPAP | c.1594C>G (p.Leu532Val) n.3349C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
10 | g.30313764G= | CA1899313984 | MTPAP | c.1594C= (p.Leu532=) n.3349C= | |
10 | g.30313764G>T | CA376434321 | MTPAP | c.1594C>A (p.Leu532Ile) n.3349C>A | |
10 | g.30313765C>A | CA376434323 | MTPAP | c.1593G>T (p.Leu531Phe) n.3348G>T | |
10 | g.30313765C= | CA1899313985 | MTPAP | c.1593G= (p.Leu531=) n.3348G= | |
10 | g.30313765C>G | CA376434324 | MTPAP | c.1593G>C (p.Leu531Phe) n.3348G>C | dbSNP |
10 | g.30313765C>T | CA468798649 | MTPAP | c.1593G>A (p.Leu531=) n.3348G>A | |
10 | g.30313765dup | CA2608695842 | MTPAP | c.1593dup (p.Leu532AlafsTer17) n.3348dup | gnomAD v4 |
10 | g.30313766A>C | CA376434326 | MTPAP | c.1592T>G (p.Leu531Trp) n.3347T>G | gnomAD v4 |
10 | g.30313766A>G | CA376434329 | MTPAP | c.1592T>C (p.Leu531Ser) n.3347T>C | |
10 | g.30313766A>T | CA376434331 | MTPAP | c.1592T>A (p.Leu531Ter) n.3347T>A | |
10 | g.30313767A>C | CA376434333 | MTPAP | c.1591T>G (p.Leu531Val) n.3346T>G | |
10 | g.30313767A>G | CA468798650 | MTPAP | c.1591T>C (p.Leu531=) n.3346T>C | |
10 | g.30313767A>T | CA376434335 | MTPAP | c.1591T>A (p.Leu531Met) n.3346T>A | |
10 | g.30313768T>A | CA468798651 | MTPAP | c.1590A>T (p.Leu530=) n.3345A>T | |
10 | g.30313768T>C | CA468798652 | MTPAP | c.1590A>G (p.Leu530=) n.3345A>G | |
10 | g.30313768T>G | CA468798653 | MTPAP | c.1590A>C (p.Leu530=) n.3345A>C | |
10 | g.30313769A>C | CA376434341 | MTPAP | c.1589T>G (p.Leu530Arg) n.3344T>G | |
10 | g.30313769A>G | CA376434343 | MTPAP | c.1589T>C (p.Leu530Pro) n.3344T>C | |
10 | g.30313769A>T | CA376434345 | MTPAP | c.1589T>A (p.Leu530Gln) n.3344T>A | |
10 | g.30313770G>A | CA468798654 | MTPAP | c.1588C>T (p.Leu530=) n.3343C>T | |
10 | g.30313770G>C | CA376434346 | MTPAP | c.1588C>G (p.Leu530Val) n.3343C>G | |
10 | g.30313770G= | CA1899313986 | MTPAP | c.1588C= (p.Leu530=) n.3343C= | |
10 | g.30313770G>T | CA376434348 | MTPAP | c.1588C>A (p.Leu530Ile) n.3343C>A | |
10 | g.30313771G>A | CA468798655 | MTPAP | c.1587C>T (p.Ser529=) n.3342C>T | COSMIC COSMIC |
10 | g.30313771G>C | CA468798656 | MTPAP | c.1587C>G (p.Ser529=) n.3342C>G | gnomAD v4 |
10 | g.30313771G>T | CA468798657 | MTPAP | c.1587C>A (p.Ser529=) n.3342C>A | |
10 | g.30313771_30313774dup | CA592781532 | MTPAP | c.1584_1587dup (p.Leu530IlefsTer20) n.3339_3342dup | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313772G>A | CA376434350 | MTPAP | c.1586C>T (p.Ser529Phe) n.3341C>T | |
10 | g.30313772G>C | CA376434353 | MTPAP | c.1586C>G (p.Ser529Cys) n.3341C>G | |
10 | g.30313772G>T | CA376434352 | MTPAP | c.1586C>A (p.Ser529Tyr) n.3341C>A | |
10 | g.30313773A>C | CA376434355 | MTPAP | c.1585T>G (p.Ser529Ala) n.3340T>G | |
10 | g.30313773A>G | CA376434357 | MTPAP | c.1585T>C (p.Ser529Pro) n.3340T>C | |
10 | g.30313773A>T | CA376434359 | MTPAP | c.1585T>A (p.Ser529Thr) n.3340T>A | |
10 | g.30313774T>A | CA468798658 | MTPAP | c.1584A>T (p.Val528=) n.3339A>T | |
10 | g.30313774T>C | CA5458919 | MTPAP | c.1584A>G (p.Val528=) n.3339A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.30313774T>G | CA468798659 | MTPAP | c.1584A>C (p.Val528=) n.3339A>C | |
10 | g.30313774T= | CA1899313987 | MTPAP | c.1584A= (p.Val528=) n.3339A= | |
10 | g.30313775A>C | CA376434363 | MTPAP | c.1583T>G (p.Val528Gly) n.3338T>G | |
10 | g.30313775A>G | CA376434364 | MTPAP | c.1583T>C (p.Val528Ala) n.3338T>C | |
10 | g.30313775A>T | CA376434365 | MTPAP | c.1583T>A (p.Val528Glu) n.3338T>A | |
10 | g.30313776C>A | CA376434371 | MTPAP | c.1582G>T (p.Val528Leu) n.3337G>T | dbSNP gnomAD v2 |
10 | g.30313776C= | CA1899313988 | MTPAP | c.1582G= (p.Val528=) n.3337G= | |
10 | g.30313776C>G | CA376434368 | MTPAP | c.1582G>C (p.Val528Leu) n.3337G>C | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313776C>T | CA376434369 | MTPAP | c.1582G>A (p.Val528Ile) n.3337G>A | dbSNP gnomAD v4 |
10 | g.30313777C>A | CA468798660 | MTPAP | c.1581G>T (p.Leu527=) n.3336G>T | dbSNP gnomAD v2 |
10 | g.30313777C= | CA1899313989 | MTPAP | c.1581G= (p.Leu527=) n.3336G= | |
10 | g.30313777C>G | CA468798661 | MTPAP | c.1581G>C (p.Leu527=) n.3336G>C | |
10 | g.30313777C>T | CA468798662 | MTPAP | c.1581G>A (p.Leu527=) n.3336G>A | |
10 | g.30313778A>C | CA376434373 | MTPAP | c.1580T>G (p.Leu527Arg) n.3335T>G | |
10 | g.30313778A>G | CA376434375 | MTPAP | c.1580T>C (p.Leu527Pro) n.3335T>C | |
10 | g.30313778A>T | CA376434377 | MTPAP | c.1580T>A (p.Leu527Gln) n.3335T>A | |
10 | g.30313779G>A | CA468798663 | MTPAP | c.1579C>T (p.Leu527=) n.3334C>T | gnomAD v4 |
10 | g.30313779G>C | CA376434380 | MTPAP | c.1579C>G (p.Leu527Val) n.3334C>G | |
10 | g.30313779G>T | CA376434382 | MTPAP | c.1579C>A (p.Leu527Met) n.3334C>A | |
10 | g.30313780C>A | CA468798664 | MTPAP | c.1578G>T (p.Gly526=) n.3333G>T | gnomAD v4 |
10 | g.30313780C= | CA1899313990 | MTPAP | c.1578G= (p.Gly526=) n.3333G= | |
10 | g.30313780C>G | CA468798665 | MTPAP | c.1578G>C (p.Gly526=) n.3333G>C | ClinVar |
10 | g.30313780C>T | CA5458920 | MTPAP | c.1578G>A (p.Gly526=) n.3333G>A | dbSNP ExAC gnomAD v2 |
10 | g.30313781C>A | CA376434386 | MTPAP | c.1577G>T (p.Gly526Val) n.3332G>T | |
10 | g.30313781C>G | CA376434389 | MTPAP | c.1577G>C (p.Gly526Ala) n.3332G>C | |
10 | g.30313781C>T | CA376434388 | MTPAP | c.1577G>A (p.Gly526Glu) n.3332G>A | |
10 | g.30313782C>A | CA376434396 | MTPAP | c.1576G>T (p.Gly526Trp) n.3331G>T | gnomAD v4 |
10 | g.30313782C>G | CA376434398 | MTPAP | c.1576G>C (p.Gly526Arg) n.3331G>C | |
10 | g.30313782C>T | CA376434399 | MTPAP | c.1576G>A (p.Gly526Arg) n.3331G>A | gnomAD v4 |
10 | g.30313783C>A | CA376434400 | MTPAP | c.1575G>T (p.Trp525Cys) n.3330G>T | |
10 | g.30313783C>G | CA376434402 | MTPAP | c.1575G>C (p.Trp525Cys) n.3330G>C | |
10 | g.30313783C>T | CA376434406 | MTPAP | c.1575G>A (p.Trp525Ter) n.3330G>A | |
10 | g.30313784C>A | CA376434408 | MTPAP | c.1574G>T (p.Trp525Leu) n.3329G>T | |
10 | g.30313784C>G | CA376434409 | MTPAP | c.1574G>C (p.Trp525Ser) n.3329G>C | |
10 | g.30313784C>T | CA376434410 | MTPAP | c.1574G>A (p.Trp525Ter) n.3329G>A | |
10 | g.30313785A= | CA1899313991 | MTPAP | c.1573T= (p.Trp525=) n.3328T= | |
10 | g.30313785A>C | CA376434412 | MTPAP | c.1573T>G (p.Trp525Gly) n.3328T>G | |
10 | g.30313785A>G | CA376434414 | MTPAP | c.1573T>C (p.Trp525Arg) n.3328T>C | |
10 | g.30313785A>T | CA376434415 | MTPAP | c.1573T>A (p.Trp525Arg) n.3328T>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.30313786G>A | CA468798668 | MTPAP | c.1572C>T (p.Pro524=) n.3327C>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313786G>C | CA468798667 | MTPAP | c.1572C>G (p.Pro524=) n.3327C>G | |
10 | g.30313786G= | CA1899313992 | MTPAP | c.1572C= (p.Pro524=) n.3327C= | |
10 | g.30313786G>T | CA468798666 | MTPAP | c.1572C>A (p.Pro524=) n.3327C>A | |
10 | g.30313787G>A | CA376434417 | MTPAP | c.1571C>T (p.Pro524Leu) n.3326C>T | gnomAD v4 |
10 | g.30313787G>C | CA376434421 | MTPAP | c.1571C>G (p.Pro524Arg) n.3326C>G | |
10 | g.30313787G>T | CA376434419 | MTPAP | c.1571C>A (p.Pro524His) n.3326C>A | |
10 | g.30313788G>A | CA376434423 | MTPAP | c.1570C>T (p.Pro524Ser) n.3325C>T | |
10 | g.30313788G>C | CA376434425 | MTPAP | c.1570C>G (p.Pro524Ala) n.3325C>G | |
10 | g.30313788G>T | CA376434427 | MTPAP | c.1570C>A (p.Pro524Thr) n.3325C>A | |
10 | g.30313789C>A | CA468798669 | MTPAP | c.1569G>T (p.Arg523=) n.3324G>T | |
10 | g.30313789C>G | CA468798671 | MTPAP | c.1569G>C (p.Arg523=) n.3324G>C | |
10 | g.30313789C>T | CA468798670 | MTPAP | c.1569G>A (p.Arg523=) n.3324G>A | |
10 | g.30313790C>A | CA376434429 | MTPAP | c.1568G>T (p.Arg523Leu) n.3323G>T | |
10 | g.30313790C= | CA1899313993 | MTPAP | c.1568G= (p.Arg523=) n.3323G= | |
10 | g.30313790C>G | CA376434431 | MTPAP | c.1568G>C (p.Arg523Pro) n.3323G>C | |
10 | g.30313790C>T | CA5458921 | MTPAP | c.1568G>A (p.Arg523Gln) n.3323G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.30313791G>A | CA376434433 | MTPAP | c.1567C>T (p.Arg523Trp) n.3322C>T | ClinVar dbSNP gnomAD v4 |
10 | g.30313791G>C | CA376434434 | MTPAP | c.1567C>G (p.Arg523Gly) n.3322C>G | |
10 | g.30313791G= | CA1899313994 | MTPAP | c.1567C= (p.Arg523=) n.3322C= | |
10 | g.30313791G>T | CA468798672 | MTPAP | c.1567C>A (p.Arg523=) n.3322C>A | dbSNP |
10 | g.30313792A>C | CA376434436 | MTPAP | c.1566T>G (p.Asn522Lys) n.3321T>G | |
10 | g.30313792A>G | CA468798673 | MTPAP | c.1566T>C (p.Asn522=) n.3321T>C | |
10 | g.30313792A>T | CA376434438 | MTPAP | c.1566T>A (p.Asn522Lys) n.3321T>A | |
10 | g.30313793T>A | CA376434440 | MTPAP | c.1565A>T (p.Asn522Ile) n.3320A>T | |
10 | g.30313793T>C | CA5458922 | MTPAP | c.1565A>G (p.Asn522Ser) n.3320A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313793T>G | CA376434441 | MTPAP | c.1565A>C (p.Asn522Thr) n.3320A>C | |
10 | g.30313793T= | CA1899313995 | MTPAP | c.1565A= (p.Asn522=) n.3320A= | |
10 | g.30313794T>A | CA376434454 | MTPAP | c.1564A>T (p.Asn522Tyr) n.3319A>T | |
10 | g.30313794T>C | CA376434445 | MTPAP | c.1564A>G (p.Asn522Asp) n.3319A>G | ClinVar |
10 | g.30313794T>G | CA376434452 | MTPAP | c.1564A>C (p.Asn522His) n.3319A>C | |
10 | g.30313795A>C | CA376434456 | MTPAP | c.1563T>G (p.Ser521Arg) n.3318T>G | |
10 | g.30313795A>G | CA468798674 | MTPAP | c.1563T>C (p.Ser521=) n.3318T>C | |
10 | g.30313795A>T | CA376434458 | MTPAP | c.1563T>A (p.Ser521Arg) n.3318T>A | |
10 | g.30313796C>A | CA376434460 | MTPAP | c.1562G>T (p.Ser521Ile) n.3317G>T | |
10 | g.30313796C>G | CA376434461 | MTPAP | c.1562G>C (p.Ser521Thr) n.3317G>C | |
10 | g.30313796C>T | CA376434463 | MTPAP | c.1562G>A (p.Ser521Asn) n.3317G>A | |
10 | g.30313797T>A | CA376434465 | MTPAP | c.1561A>T (p.Ser521Cys) n.3316A>T | |
10 | g.30313797T>C | CA376434466 | MTPAP | c.1561A>G (p.Ser521Gly) n.3316A>G | |
10 | g.30313797T>G | CA376434468 | MTPAP | c.1561A>C (p.Ser521Arg) n.3316A>C | |
10 | g.30313798T>A | CA468798675 | MTPAP | c.1560A>T (p.Ser520=) n.3315A>T | |
10 | g.30313798T>C | CA468798676 | MTPAP | c.1560A>G (p.Ser520=) n.3315A>G | |
10 | g.30313798T>G | CA468798677 | MTPAP | c.1560A>C (p.Ser520=) n.3315A>C | gnomAD v4 |
10 | g.30313799G>A | CA376434470 | MTPAP | c.1559C>T (p.Ser520Leu) n.3314C>T | |
10 | g.30313799G>C | CA376434471 | MTPAP | c.1559C>G (p.Ser520Ter) n.3314C>G | |
10 | g.30313799G>T | CA376434473 | MTPAP | c.1559C>A (p.Ser520Ter) n.3314C>A | |
10 | g.30313800A>C | CA376434475 | MTPAP | c.1558T>G (p.Ser520Ala) n.3313T>G | |
10 | g.30313800A>G | CA376434479 | MTPAP | c.1558T>C (p.Ser520Pro) n.3313T>C | |
10 | g.30313800A>T | CA376434477 | MTPAP | c.1558T>A (p.Ser520Thr) n.3313T>A | |
10 | g.30313801T>A | CA468798678 | MTPAP | c.1557A>T (p.Ile519=) n.3312A>T | |
10 | g.30313801T>C | CA376434480 | MTPAP | c.1557A>G (p.Ile519Met) n.3312A>G | gnomAD v4 |
10 | g.30313801T>G | CA468798679 | MTPAP | c.1557A>C (p.Ile519=) n.3312A>C | |
10 | g.30313802A= | CA1899313996 | MTPAP | c.1556T= (p.Ile519=) n.3311T= | |
10 | g.30313802A>C | CA376434481 | MTPAP | c.1556T>G (p.Ile519Arg) n.3311T>G | |
10 | g.30313802A>G | CA376434482 | MTPAP | c.1556T>C (p.Ile519Thr) n.3311T>C | dbSNP gnomAD v4 |
10 | g.30313802A>T | CA376434484 | MTPAP | c.1556T>A (p.Ile519Lys) n.3311T>A | |
10 | g.30313803T>A | CA5458923 | MTPAP | c.1555A>T (p.Ile519Leu) n.3310A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.30313803T>C | CA376434486 | MTPAP | c.1555A>G (p.Ile519Val) n.3310A>G | |
10 | g.30313803T>G | CA376434488 | MTPAP | c.1555A>C (p.Ile519Leu) n.3310A>C | |
10 | g.30313803T= | CA1899313997 | MTPAP | c.1555A= (p.Ile519=) n.3310A= | |
10 | g.30313804G>A | CA468798680 | MTPAP | c.1554C>T (p.Ser518=) n.3309C>T | dbSNP |
10 | g.30313804G>C | CA468798681 | MTPAP | c.1554C>G (p.Ser518=) n.3309C>G | |
10 | g.30313804G= | CA1899313998 | MTPAP | c.1554C= (p.Ser518=) n.3309C= | |
10 | g.30313804G>T | CA468798682 | MTPAP | c.1554C>A (p.Ser518=) n.3309C>A | |
10 | g.30313804_30313805insAGGCCTCCGGATTTCAGTGTGATTTGACTACGAACAATAGGATTGCCTTGACAAGTTCCGAACTCCTTTATATATATGGTGCCCTAGACTCAAGAGTGAGAGCCTTGGTGTTCAGT | CA926395266 | MTPAP | c.1553_1554insACTGAACACCAAGGCTCTCACTCTTGAGTCTAGGGCACCATATATATAAAGGAGTTCGGAACTTGTCAAGGCAATCCTATTGTTCGTAGTCAAATCACACTGAAATCCGGAGGCCT (p.Ile519LeufsTer16) n.3308_3309insACTGAACACCAAGGCTCTCACTCTTGAGTCTAGGGCACCATATATATAAAGGAGTTCGGAACTTGTCAAGGCAATCCTATTGTTCGTAGTCAAATCACACTGAAATCCGGAGGCCT | gnomAD v3 gnomAD v4 |
10 | g.30313805G>A | CA5458924 | MTPAP | c.1553C>T (p.Ser518Phe) n.3308C>T | dbSNP ExAC gnomAD v4 |
10 | g.30313805G>C | CA376434491 | MTPAP | c.1553C>G (p.Ser518Cys) n.3308C>G | |
10 | g.30313805G= | CA1899313999 | MTPAP | c.1553C= (p.Ser518=) n.3308C= | |
10 | g.30313805G>T | CA376434492 | MTPAP | c.1553C>A (p.Ser518Tyr) n.3308C>A | COSMIC COSMIC |
10 | g.30313806A>C | CA376434494 | MTPAP | c.1552T>G (p.Ser518Ala) n.3307T>G | |
10 | g.30313806A>G | CA376434495 | MTPAP | c.1552T>C (p.Ser518Pro) n.3307T>C | |
10 | g.30313806A>T | CA376434496 | MTPAP | c.1552T>A (p.Ser518Thr) n.3307T>A | |
10 | g.30313807A>C | CA468798683 | MTPAP | c.1551T>G (p.Pro517=) n.3306T>G | |
10 | g.30313807A>G | CA468798684 | MTPAP | c.1551T>C (p.Pro517=) n.3306T>C | |
10 | g.30313807A>T | CA468798685 | MTPAP | c.1551T>A (p.Pro517=) n.3306T>A | |
10 | g.30313808G>A | CA5458925 | MTPAP | c.1550C>T (p.Pro517Leu) n.3305C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313808G>C | CA376434498 | MTPAP | c.1550C>G (p.Pro517Arg) n.3305C>G | |
10 | g.30313808G= | CA1899314000 | MTPAP | c.1550C= (p.Pro517=) n.3305C= | |
10 | g.30313808G>T | CA376434497 | MTPAP | c.1550C>A (p.Pro517His) n.3305C>A | gnomAD v4 |
10 | g.30313809G>A | CA376434499 | MTPAP | c.1549C>T (p.Pro517Ser) n.3304C>T | |
10 | g.30313809G>C | CA376434501 | MTPAP | c.1549C>G (p.Pro517Ala) n.3304C>G | |
10 | g.30313809G>T | CA376434502 | MTPAP | c.1549C>A (p.Pro517Thr) n.3304C>A | |
10 | g.30313810T>A | CA468798688 | MTPAP | c.1548A>T (p.Arg516=) n.3303A>T | |
10 | g.30313810T>C | CA468798687 | MTPAP | c.1548A>G (p.Arg516=) n.3303A>G | |
10 | g.30313810T>G | CA468798686 | MTPAP | c.1548A>C (p.Arg516=) n.3303A>C | dbSNP |
10 | g.30313810T= | CA1899314001 | MTPAP | c.1548A= (p.Arg516=) n.3303A= | |
10 | g.30313811C>A | CA376434504 | MTPAP | c.1547G>T (p.Arg516Leu) n.3302G>T | gnomAD v4 |
10 | g.30313811C= | CA1899314002 | MTPAP | c.1547G= (p.Arg516=) n.3302G= | |
10 | g.30313811C>G | CA376434506 | MTPAP | c.1547G>C (p.Arg516Pro) n.3302G>C | |
10 | g.30313811C>T | CA5458926 | MTPAP | c.1547G>A (p.Arg516Gln) n.3302G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313812G>A | CA5458927 | MTPAP | c.1546C>T (p.Arg516Ter) n.3301C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
10 | g.30313812G>C | CA376434509 | MTPAP | c.1546C>G (p.Arg516Gly) n.3301C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313812G= | CA1899314003 | MTPAP | c.1546C= (p.Arg516=) n.3301C= | |
10 | g.30313812G>T | CA468798689 | MTPAP | c.1546C>A (p.Arg516=) n.3301C>A | |
10 | g.30313813A>C | CA376434512 | MTPAP | c.1545T>G (p.Asp515Glu) n.3300T>G | |
10 | g.30313813A>G | CA468798690 | MTPAP | c.1545T>C (p.Asp515=) n.3300T>C | |
10 | g.30313813A>T | CA376434513 | MTPAP | c.1545T>A (p.Asp515Glu) n.3300T>A | |
10 | g.30313814T>A | CA376434516 | MTPAP | c.1544A>T (p.Asp515Val) n.3299A>T | |
10 | g.30313814T>C | CA376434518 | MTPAP | c.1544A>G (p.Asp515Gly) n.3299A>G | |
10 | g.30313814T>G | CA376434519 | MTPAP | c.1544A>C (p.Asp515Ala) n.3299A>C | ClinVar dbSNP |