Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.30313677A>C | CA376433949 | MTPAP | c.1681T>G (p.Leu561Val) n.3436T>G | gnomAD v4 |
10 | g.30313677A>G | CA468798001 | MTPAP | c.1681T>C (p.Leu561=) n.3436T>C | |
10 | g.30313677A>T | CA376433953 | MTPAP | c.1681T>A (p.Leu561Ile) n.3436T>A | |
10 | g.30313678A>C | CA468798002 | MTPAP | c.1680T>G (p.Ser560=) n.3435T>G | |
10 | g.30313678A>G | CA468798003 | MTPAP | c.1680T>C (p.Ser560=) n.3435T>C | |
10 | g.30313678A>T | CA468798004 | MTPAP | c.1680T>A (p.Ser560=) n.3435T>A | |
10 | g.30313679G>A | CA376433955 | MTPAP | c.1679C>T (p.Ser560Phe) n.3434C>T | gnomAD v4 |
10 | g.30313679G>C | CA376433957 | MTPAP | c.1679C>G (p.Ser560Cys) n.3434C>G | |
10 | g.30313679G>T | CA376433958 | MTPAP | c.1679C>A (p.Ser560Tyr) n.3434C>A | |
10 | g.30313680A= | CA1899313950 | MTPAP | c.1678T= (p.Ser560=) n.3433T= | |
10 | g.30313680A>C | CA376433962 | MTPAP | c.1678T>G (p.Ser560Ala) n.3433T>G | |
10 | g.30313680A>G | CA205300871 | MTPAP | c.1678T>C (p.Ser560Pro) n.3433T>C | ClinVar dbSNP gnomAD v4 |
10 | g.30313680A>T | CA376433960 | MTPAP | c.1678T>A (p.Ser560Thr) n.3433T>A | |
10 | g.30313681T>A | CA376433963 | MTPAP | c.1677A>T (p.Glu559Asp) n.3432A>T | |
10 | g.30313681T>C | CA468798005 | MTPAP | c.1677A>G (p.Glu559=) n.3432A>G | |
10 | g.30313681T>G | CA376433965 | MTPAP | c.1677A>C (p.Glu559Asp) n.3432A>C | |
10 | g.30313682T>A | CA376433967 | MTPAP | c.1676A>T (p.Glu559Val) n.3431A>T | |
10 | g.30313682T>C | CA376433969 | MTPAP | c.1676A>G (p.Glu559Gly) n.3431A>G | |
10 | g.30313682T>G | CA376433971 | MTPAP | c.1676A>C (p.Glu559Ala) n.3431A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.30313683C>A | CA376433973 | MTPAP | c.1675G>T (p.Glu559Ter) n.3430G>T | |
10 | g.30313683C>G | CA376433977 | MTPAP | c.1675G>C (p.Glu559Gln) n.3430G>C | |
10 | g.30313683C>T | CA376433975 | MTPAP | c.1675G>A (p.Glu559Lys) n.3430G>A | |
10 | g.30313684T>A | CA468798006 | MTPAP | c.1674A>T (p.Leu558=) n.3429A>T | |
10 | g.30313684T>C | CA468798007 | MTPAP | c.1674A>G (p.Leu558=) n.3429A>G | |
10 | g.30313684T>G | CA468798008 | MTPAP | c.1674A>C (p.Leu558=) n.3429A>C | |
10 | g.30313685A= | CA1899313951 | MTPAP | c.1673T= (p.Leu558=) n.3428T= | |
10 | g.30313685A>C | CA376433979 | MTPAP | c.1673T>G (p.Leu558Arg) n.3428T>G | |
10 | g.30313685A>G | CA5458908 | MTPAP | c.1673T>C (p.Leu558Pro) n.3428T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.30313685A>T | CA376433980 | MTPAP | c.1673T>A (p.Leu558Gln) n.3428T>A | |
10 | g.30313686G>A | CA468798009 | MTPAP | c.1672C>T (p.Leu558=) n.3427C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313686G>C | CA376433982 | MTPAP | c.1672C>G (p.Leu558Val) n.3427C>G | |
10 | g.30313686G= | CA1899313952 | MTPAP | c.1672C= (p.Leu558=) n.3427C= | |
10 | g.30313686G>T | CA376433984 | MTPAP | c.1672C>A (p.Leu558Ile) n.3427C>A | |
10 | g.30313687C>A | CA376433985 | MTPAP | c.1671G>T (p.Leu557Phe) n.3426G>T | |
10 | g.30313687C= | CA1899313953 | MTPAP | c.1671G= (p.Leu557=) n.3426G= | |
10 | g.30313687C>G | CA5458909 | MTPAP | c.1671G>C (p.Leu557Phe) n.3426G>C | dbSNP ExAC gnomAD v2 |
10 | g.30313687C>T | CA468798010 | MTPAP | c.1671G>A (p.Leu557=) n.3426G>A | |
10 | g.30313688A>C | CA376433986 | MTPAP | c.1670T>G (p.Leu557Trp) n.3425T>G | |
10 | g.30313688A>G | CA376433988 | MTPAP | c.1670T>C (p.Leu557Ser) n.3425T>C | |
10 | g.30313688A>T | CA376433990 | MTPAP | c.1670T>A (p.Leu557Ter) n.3425T>A | |
10 | g.30313689A>C | CA376433992 | MTPAP | c.1669T>G (p.Leu557Val) n.3424T>G | |
10 | g.30313689A>G | CA468798011 | MTPAP | c.1669T>C (p.Leu557=) n.3424T>C | |
10 | g.30313689A>T | CA376433995 | MTPAP | c.1669T>A (p.Leu557Met) n.3424T>A | |
10 | g.30313690G>A | CA468798012 | MTPAP | c.1668C>T (p.Asn556=) n.3423C>T | |
10 | g.30313690G>C | CA376433997 | MTPAP | c.1668C>G (p.Asn556Lys) n.3423C>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313690G= | CA1899313954 | MTPAP | c.1668C= (p.Asn556=) n.3423C= | |
10 | g.30313690G>T | CA376433998 | MTPAP | c.1668C>A (p.Asn556Lys) n.3423C>A | |
10 | g.30313690_30313691del | CA2574454080 | MTPAP | c.1667_1668del (p.Asn556IlefsTer8) n.3422_3423del | |
10 | g.30313691T>A | CA376433999 | MTPAP | c.1667A>T (p.Asn556Ile) n.3422A>T | |
10 | g.30313691T>C | CA376434003 | MTPAP | c.1667A>G (p.Asn556Ser) n.3422A>G | |
10 | g.30313691T>G | CA376434000 | MTPAP | c.1667A>C (p.Asn556Thr) n.3422A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313691T= | CA1899313955 | MTPAP | c.1667A= (p.Asn556=) n.3422A= | |
10 | g.30313693_30313695del | CA2574454085 | MTPAP | c.1665_1667del (p.Lys555del) n.3420_3422del | |
10 | g.30313692T>A | CA376434005 | MTPAP | c.1666A>T (p.Asn556Tyr) n.3421A>T | |
10 | g.30313692T>C | CA376434007 | MTPAP | c.1666A>G (p.Asn556Asp) n.3421A>G | |
10 | g.30313692T>G | CA376434008 | MTPAP | c.1666A>C (p.Asn556His) n.3421A>C | |
10 | g.30313693T>A | CA376434010 | MTPAP | c.1665A>T (p.Lys555Asn) n.3420A>T | |
10 | g.30313693T>C | CA205300883 | MTPAP | c.1665A>G (p.Lys555=) n.3420A>G | dbSNP |
10 | g.30313693T>G | CA376434012 | MTPAP | c.1665A>C (p.Lys555Asn) n.3420A>C | |
10 | g.30313693T= | CA1899313956 | MTPAP | c.1665A= (p.Lys555=) n.3420A= | |
10 | g.30313694T>A | CA376434014 | MTPAP | c.1664A>T (p.Lys555Ile) n.3419A>T | |
10 | g.30313694T>C | CA5458910 | MTPAP | c.1664A>G (p.Lys555Arg) n.3419A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
10 | g.30313694T>G | CA376434015 | MTPAP | c.1664A>C (p.Lys555Thr) n.3419A>C | |
10 | g.30313694T= | CA1899313957 | MTPAP | c.1664A= (p.Lys555=) n.3419A= | |
10 | g.30313695T>A | CA376434017 | MTPAP | c.1663A>T (p.Lys555Ter) n.3418A>T | |
10 | g.30313695T>C | CA376434019 | MTPAP | c.1663A>G (p.Lys555Glu) n.3418A>G | dbSNP gnomAD v2 |
10 | g.30313695T>G | CA376434020 | MTPAP | c.1663A>C (p.Lys555Gln) n.3418A>C | |
10 | g.30313695T= | CA1899313958 | MTPAP | c.1663A= (p.Lys555=) n.3418A= | |
10 | g.30313696G>A | CA5458911 | MTPAP | c.1662C>T (p.Val554=) n.3417C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.30313696G>C | CA468798013 | MTPAP | c.1662C>G (p.Val554=) n.3417C>G | COSMIC COSMIC |
10 | g.30313696G= | CA1899313959 | MTPAP | c.1662C= (p.Val554=) n.3417C= | |
10 | g.30313696G>T | CA468798014 | MTPAP | c.1662C>A (p.Val554=) n.3417C>A | |
10 | g.30313697A= | CA1899313960 | MTPAP | c.1661T= (p.Val554=) n.3416T= | |
10 | g.30313697A>C | CA376434023 | MTPAP | c.1661T>G (p.Val554Gly) n.3416T>G | gnomAD v4 |
10 | g.30313697A>G | CA376434026 | MTPAP | c.1661T>C (p.Val554Ala) n.3416T>C | gnomAD v4 |
10 | g.30313697A>T | CA376434028 | MTPAP | c.1661T>A (p.Val554Asp) n.3416T>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.30313698C>A | CA376434030 | MTPAP | c.1660G>T (p.Val554Phe) n.3415G>T | |
10 | g.30313698C>G | CA376434032 | MTPAP | c.1660G>C (p.Val554Leu) n.3415G>C | |
10 | g.30313698C>T | CA376434034 | MTPAP | c.1660G>A (p.Val554Ile) n.3415G>A | gnomAD v4 COSMIC COSMIC |
10 | g.30313699T>A | CA468798015 | MTPAP | c.1659A>T (p.Thr553=) n.3414A>T | |
10 | g.30313699T>C | CA468798016 | MTPAP | c.1659A>G (p.Thr553=) n.3414A>G | |
10 | g.30313699T>G | CA468798017 | MTPAP | c.1659A>C (p.Thr553=) n.3414A>C | gnomAD v4 |
10 | g.30313700G>A | CA376434036 | MTPAP | c.1658C>T (p.Thr553Ile) n.3413C>T | |
10 | g.30313700G>C | CA376434038 | MTPAP | c.1658C>G (p.Thr553Arg) n.3413C>G | |
10 | g.30313700G>T | CA376434039 | MTPAP | c.1658C>A (p.Thr553Lys) n.3413C>A | COSMIC COSMIC |
10 | g.30313701T>A | CA376434040 | MTPAP | c.1657A>T (p.Thr553Ser) n.3412A>T | |
10 | g.30313701T>C | CA376434041 | MTPAP | c.1657A>G (p.Thr553Ala) n.3412A>G | gnomAD v4 |
10 | g.30313701T>G | CA376434042 | MTPAP | c.1657A>C (p.Thr553Pro) n.3412A>C | |
10 | g.30313702T>A | CA376434044 | MTPAP | c.1656A>T (p.Glu552Asp) n.3411A>T | |
10 | g.30313702T>C | CA468798018 | MTPAP | c.1656A>G (p.Glu552=) n.3411A>G | |
10 | g.30313702T>G | CA376434048 | MTPAP | c.1656A>C (p.Glu552Asp) n.3411A>C | |
10 | g.30313703T>A | CA376434051 | MTPAP | c.1655A>T (p.Glu552Val) n.3410A>T | |
10 | g.30313703T>C | CA376434053 | MTPAP | c.1655A>G (p.Glu552Gly) n.3410A>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313703T>G | CA376434052 | MTPAP | c.1655A>C (p.Glu552Ala) n.3410A>C | |
10 | g.30313703T= | CA1899313961 | MTPAP | c.1655A= (p.Glu552=) n.3410A= | |
10 | g.30313704del | CA2608695787 | MTPAP | c.1654del (p.Glu552LysfsTer7) n.3409del | gnomAD v4 |
10 | g.30313704C>A | CA376434054 | MTPAP | c.1654G>T (p.Glu552Ter) n.3409G>T | |
10 | g.30313704C>G | CA376434056 | MTPAP | c.1654G>C (p.Glu552Gln) n.3409G>C | |
10 | g.30313704C>T | CA376434061 | MTPAP | c.1654G>A (p.Glu552Lys) n.3409G>A | COSMIC COSMIC |
10 | g.30313705A= | CA1899313962 | MTPAP | c.1653T= (p.Ile551=) n.3408T= | |
10 | g.30313705A>C | CA376434064 | MTPAP | c.1653T>G (p.Ile551Met) n.3408T>G | |
10 | g.30313705A>G | CA468798019 | MTPAP | c.1653T>C (p.Ile551=) n.3408T>C | dbSNP |
10 | g.30313705A>T | CA468798020 | MTPAP | c.1653T>A (p.Ile551=) n.3408T>A | |
10 | g.30313706A= | CA1899313963 | MTPAP | c.1652T= (p.Ile551=) n.3407T= | |
10 | g.30313706A>C | CA376434065 | MTPAP | c.1652T>G (p.Ile551Ser) n.3407T>G | |
10 | g.30313706A>G | CA205300897 | MTPAP | c.1652T>C (p.Ile551Thr) n.3407T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313706A>T | CA376434069 | MTPAP | c.1652T>A (p.Ile551Asn) n.3407T>A | |
10 | g.30313707T>A | CA376434072 | MTPAP | c.1651A>T (p.Ile551Phe) n.3406A>T | |
10 | g.30313707T>C | CA205300901 | MTPAP | c.1651A>G (p.Ile551Val) n.3406A>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313707T>G | CA376434073 | MTPAP | c.1651A>C (p.Ile551Leu) n.3406A>C | |
10 | g.30313707T= | CA1899313964 | MTPAP | c.1651A= (p.Ile551=) n.3406A= | |
10 | g.30313708T>A | CA468798023 | MTPAP | c.1650A>T (p.Ala550=) n.3405A>T | |
10 | g.30313708T>C | CA468798022 | MTPAP | c.1650A>G (p.Ala550=) n.3405A>G | gnomAD v4 |
10 | g.30313708T>G | CA468798021 | MTPAP | c.1650A>C (p.Ala550=) n.3405A>C | |
10 | g.30313709G>A | CA376434075 | MTPAP | c.1649C>T (p.Ala550Val) n.3404C>T | |
10 | g.30313709G>C | CA376434076 | MTPAP | c.1649C>G (p.Ala550Gly) n.3404C>G | |
10 | g.30313709G>T | CA376434077 | MTPAP | c.1649C>A (p.Ala550Glu) n.3404C>A | |
10 | g.30313710C>A | CA376434079 | MTPAP | c.1648G>T (p.Ala550Ser) n.3403G>T | gnomAD v4 |
10 | g.30313710C>G | CA376434081 | MTPAP | c.1648G>C (p.Ala550Pro) n.3403G>C | |
10 | g.30313710C>T | CA376434080 | MTPAP | c.1648G>A (p.Ala550Thr) n.3403G>A | |
10 | g.30313711A>C | CA376434082 | MTPAP | c.1647T>G (p.Phe549Leu) n.3402T>G | |
10 | g.30313711A>G | CA468798024 | MTPAP | c.1647T>C (p.Phe549=) n.3402T>C | gnomAD v4 |
10 | g.30313711A>T | CA376434083 | MTPAP | c.1647T>A (p.Phe549Leu) n.3402T>A | |
10 | g.30313712A>C | CA376434085 | MTPAP | c.1646T>G (p.Phe549Cys) n.3401T>G | |
10 | g.30313712A>G | CA376434087 | MTPAP | c.1646T>C (p.Phe549Ser) n.3401T>C | |
10 | g.30313712A>T | CA376434089 | MTPAP | c.1646T>A (p.Phe549Tyr) n.3401T>A | |
10 | g.30313713A>C | CA376434092 | MTPAP | c.1645T>G (p.Phe549Val) n.3400T>G | |
10 | g.30313713A>G | CA376434093 | MTPAP | c.1645T>C (p.Phe549Leu) n.3400T>C | |
10 | g.30313713A>T | CA376434095 | MTPAP | c.1645T>A (p.Phe549Ile) n.3400T>A | |
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 |