UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.30313640_30313643dup | CA645544915 | MTPAP | c.1715_1718dup (p.Gly574GlnfsTer7) n.3470_3473dup | COSMIC COSMIC |
| 10 | g.30313641T>A | CA376433808 | MTPAP | c.1717A>T (p.Ser573Cys) n.3472A>T | |
| 10 | g.30313641T>C | CA376433811 | MTPAP | c.1717A>G (p.Ser573Gly) n.3472A>G | |
| 10 | g.30313641T>G | CA376433812 | MTPAP | c.1717A>C (p.Ser573Arg) n.3472A>C | |
| 10 | g.30313642G>A | CA468797980 | MTPAP | c.1716C>T (p.Thr572=) n.3471C>T | |
| 10 | g.30313642G>C | CA468797981 | MTPAP | c.1716C>G (p.Thr572=) n.3471C>G | |
| 10 | g.30313642G>T | CA468797982 | MTPAP | c.1716C>A (p.Thr572=) n.3471C>A | |
| 10 | g.30313643G>A | CA376433814 | MTPAP | c.1715C>T (p.Thr572Ile) n.3470C>T | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.30313643G>C | CA376433815 | MTPAP | c.1715C>G (p.Thr572Ser) n.3470C>G | |
| 10 | g.30313643G= | CA1899313936 | MTPAP | c.1715C= (p.Thr572=) n.3470C= | |
| 10 | g.30313643G>T | CA376433818 | MTPAP | c.1715C>A (p.Thr572Asn) n.3470C>A | |
| 10 | g.30313644T>A | CA376433819 | MTPAP | c.1714A>T (p.Thr572Ser) n.3469A>T | |
| 10 | g.30313644T>C | CA376433820 | MTPAP | c.1714A>G (p.Thr572Ala) n.3469A>G | |
| 10 | g.30313644T>G | CA376433822 | MTPAP | c.1714A>C (p.Thr572Pro) n.3469A>C | gnomAD v4 |
| 10 | g.30313648dup | CA645544916 | MTPAP | c.1714dup (p.Thr572AsnfsTer8) n.3469dup | COSMIC COSMIC |
| 10 | g.30313645T>A | CA376433825 | MTPAP | c.1713A>T (p.Lys571Asn) n.3468A>T | |
| 10 | g.30313645T>C | CA468797983 | MTPAP | c.1713A>G (p.Lys571=) n.3468A>G | |
| 10 | g.30313645T>G | CA376433827 | MTPAP | c.1713A>C (p.Lys571Asn) n.3468A>C | |
| 10 | g.30313646T>A | CA376433829 | MTPAP | c.1712A>T (p.Lys571Ile) n.3467A>T | |
| 10 | g.30313646T>C | CA376433831 | MTPAP | c.1712A>G (p.Lys571Arg) n.3467A>G | |
| 10 | g.30313646T>G | CA376433833 | MTPAP | c.1712A>C (p.Lys571Thr) n.3467A>C | |
| 10 | g.30313647T>A | CA376433835 | MTPAP | c.1711A>T (p.Lys571Ter) n.3466A>T | |
| 10 | g.30313647T>C | CA5458903 | MTPAP | c.1711A>G (p.Lys571Glu) n.3466A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.30313647T>G | CA376433837 | MTPAP | c.1711A>C (p.Lys571Gln) n.3466A>C | |
| 10 | g.30313647T= | CA1899313937 | MTPAP | c.1711A= (p.Lys571=) n.3466A= | |
| 10 | g.30313648T>A | CA468797984 | MTPAP | c.1710A>T (p.Thr570=) n.3465A>T | |
| 10 | g.30313648T>C | CA468797985 | MTPAP | c.1710A>G (p.Thr570=) n.3465A>G | |
| 10 | g.30313648T>G | CA468797986 | MTPAP | c.1710A>C (p.Thr570=) n.3465A>C | |
| 10 | g.30313649G>A | CA376433839 | MTPAP | c.1709C>T (p.Thr570Ile) n.3464C>T | |
| 10 | g.30313649G>C | CA5458904 | MTPAP | c.1709C>G (p.Thr570Arg) n.3464C>G | dbSNP ExAC gnomAD v2 |
| 10 | g.30313649G= | CA1899313938 | MTPAP | c.1709C= (p.Thr570=) n.3464C= | |
| 10 | g.30313649G>T | CA376433842 | MTPAP | c.1709C>A (p.Thr570Lys) n.3464C>A | gnomAD v4 |
| 10 | g.30313650T>A | CA376433844 | MTPAP | c.1708A>T (p.Thr570Ser) n.3463A>T | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.30313650T>C | CA376433845 | MTPAP | c.1708A>G (p.Thr570Ala) n.3463A>G | |
| 10 | g.30313650T>G | CA376433846 | MTPAP | c.1708A>C (p.Thr570Pro) n.3463A>C | |
| 10 | g.30313650T= | CA1899313939 | MTPAP | c.1708A= (p.Thr570=) n.3463A= | |
| 10 | g.30313651G>A | CA468797987 | MTPAP | c.1707C>T (p.Phe569=) n.3462C>T | gnomAD v4 COSMIC COSMIC |
| 10 | g.30313651G>C | CA376433847 | MTPAP | c.1707C>G (p.Phe569Leu) n.3462C>G | |
| 10 | g.30313651G>T | CA376433849 | MTPAP | c.1707C>A (p.Phe569Leu) n.3462C>A | |
| 10 | g.30313652A>C | CA376433851 | MTPAP | c.1706T>G (p.Phe569Cys) n.3461T>G | |
| 10 | g.30313652A>G | CA376433852 | MTPAP | c.1706T>C (p.Phe569Ser) n.3461T>C | |
| 10 | g.30313652A>T | CA376433854 | MTPAP | c.1706T>A (p.Phe569Tyr) n.3461T>A | |
| 10 | g.30313653A>C | CA376433855 | MTPAP | c.1705T>G (p.Phe569Val) n.3460T>G | |
| 10 | g.30313653A>G | CA376433858 | MTPAP | c.1705T>C (p.Phe569Leu) n.3460T>C | |
| 10 | g.30313653A>T | CA376433860 | MTPAP | c.1705T>A (p.Phe569Ile) n.3460T>A | |
| 10 | g.30313654A>C | CA376433862 | MTPAP | c.1704T>G (p.Asn568Lys) n.3459T>G | |
| 10 | g.30313654A>G | CA468797988 | MTPAP | c.1704T>C (p.Asn568=) n.3459T>C | |
| 10 | g.30313654A>T | CA376433865 | MTPAP | c.1704T>A (p.Asn568Lys) n.3459T>A | |
| 10 | g.30313655T>A | CA376433869 | MTPAP | c.1703A>T (p.Asn568Ile) n.3458A>T | |
| 10 | g.30313655T>C | CA376433871 | MTPAP | c.1703A>G (p.Asn568Ser) n.3458A>G | |
| 10 | g.30313655T>G | CA376433872 | MTPAP | c.1703A>C (p.Asn568Thr) n.3458A>C | |
| 10 | g.30313656T>A | CA376433875 | MTPAP | c.1702A>T (p.Asn568Tyr) n.3457A>T | |
| 10 | g.30313656T>C | CA376433877 | MTPAP | c.1702A>G (p.Asn568Asp) n.3457A>G | |
| 10 | g.30313656T>G | CA376433878 | MTPAP | c.1702A>C (p.Asn568His) n.3457A>C | COSMIC COSMIC |
| 10 | g.30313657T>A | CA376433880 | MTPAP | c.1701A>T (p.Glu567Asp) n.3456A>T | |
| 10 | g.30313657T>C | CA468797990 | MTPAP | c.1701A>G (p.Glu567=) n.3456A>G | |
| 10 | g.30313657T>G | CA376433881 | MTPAP | c.1701A>C (p.Glu567Asp) n.3456A>C | |
| 10 | g.30313658T>A | CA376433882 | MTPAP | c.1700A>T (p.Glu567Val) n.3455A>T | |
| 10 | g.30313658T>C | CA376433884 | MTPAP | c.1700A>G (p.Glu567Gly) n.3455A>G | |
| 10 | g.30313658T>G | CA376433886 | MTPAP | c.1700A>C (p.Glu567Ala) n.3455A>C | |
| 10 | g.30313659C>A | CA376433887 | MTPAP | c.1699G>T (p.Glu567Ter) n.3454G>T | |
| 10 | g.30313659C= | CA1899313940 | MTPAP | c.1699G= (p.Glu567=) n.3454G= | |
| 10 | g.30313659C>G | CA376433888 | MTPAP | c.1699G>C (p.Glu567Gln) n.3454G>C | |
| 10 | g.30313659C>T | CA376433889 | MTPAP | c.1699G>A (p.Glu567Lys) n.3454G>A | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.30313660T>A | CA468797992 | MTPAP | c.1698A>T (p.Thr566=) n.3453A>T | |
| 10 | g.30313660T>C | CA468797993 | MTPAP | c.1698A>G (p.Thr566=) n.3453A>G | gnomAD v4 |
| 10 | g.30313660T>G | CA468797991 | MTPAP | c.1698A>C (p.Thr566=) n.3453A>C | dbSNP |
| 10 | g.30313660T= | CA1899313941 | MTPAP | c.1698A= (p.Thr566=) n.3453A= | |
| 10 | g.30313661G>A | CA376433890 | MTPAP | c.1697C>T (p.Thr566Ile) n.3452C>T | gnomAD v4 |
| 10 | g.30313661G>C | CA376433891 | MTPAP | c.1697C>G (p.Thr566Arg) n.3452C>G | gnomAD v4 |
| 10 | g.30313661G>T | CA376433892 | MTPAP | c.1697C>A (p.Thr566Lys) n.3452C>A | |
| 10 | g.30313661_30313665delinsGTTCT | CA1899313942 | MTPAP | c.1693_1697delinsAGAAC (p.Arg565=) n.3448_3452delinsAGAAC | |
| 10 | g.30313662T>A | CA376433893 | MTPAP | c.1696A>T (p.Thr566Ser) n.3451A>T | dbSNP |
| 10 | g.30313662T>C | CA376433894 | MTPAP | c.1696A>G (p.Thr566Ala) n.3451A>G | |
| 10 | g.30313662T>G | CA376433895 | MTPAP | c.1696A>C (p.Thr566Pro) n.3451A>C | |
| 10 | g.30313662_30313664delinsTTC | CA1899313944 | MTPAP | c.1694_1696delinsGAA (p.Arg565=) n.3449_3451delinsGAA | |
| 10 | g.30313662_30313665del | CA1899313943 | MTPAP | c.1693_1696del (p.Arg565GlnfsTer24) n.3448_3451del | dbSNP |
| 10 | g.30313663T>A | CA376433896 | MTPAP | c.1695A>T (p.Arg565Ser) n.3450A>T | |
| 10 | g.30313663T>C | CA468797994 | MTPAP | c.1695A>G (p.Arg565=) n.3450A>G | |
| 10 | g.30313663T>G | CA376433898 | MTPAP | c.1695A>C (p.Arg565Ser) n.3450A>C | |
| 10 | g.30313664_30313665del | CA5458905 | MTPAP | c.1694_1695del (p.Arg565AsnfsTer14) n.3449_3450del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.30313664C>A | CA376433899 | MTPAP | c.1694G>T (p.Arg565Ile) n.3449G>T | gnomAD v4 |
| 10 | g.30313664C>G | CA376433902 | MTPAP | c.1694G>C (p.Arg565Thr) n.3449G>C | |
| 10 | g.30313664C>T | CA376433901 | MTPAP | c.1694G>A (p.Arg565Lys) n.3449G>A | |
| 10 | g.30313665T>A | CA376433904 | MTPAP | c.1693A>T (p.Arg565Ter) n.3448A>T | |
| 10 | g.30313665T>C | CA5458906 | MTPAP | c.1693A>G (p.Arg565Gly) n.3448A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.30313665T>G | CA468797995 | MTPAP | c.1693A>C (p.Arg565=) n.3448A>C | |
| 10 | g.30313665T= | CA1899313945 | MTPAP | c.1693A= (p.Arg565=) n.3448A= | |
| 10 | g.30313666_30313668del | CA2787135261 | MTPAP | c.1691_1693del (p.Asn564del) n.3446_3448del | |
| 10 | g.30313666G>A | CA5458907 | MTPAP | c.1692C>T (p.Asn564=) n.3447C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.30313666G>C | CA376433906 | MTPAP | c.1692C>G (p.Asn564Lys) n.3447C>G | dbSNP |
| 10 | g.30313666G= | CA1899313946 | MTPAP | c.1692C= (p.Asn564=) n.3447C= | |
| 10 | g.30313666G>T | CA376433908 | MTPAP | c.1692C>A (p.Asn564Lys) n.3447C>A | |
| 10 | g.30313667T>A | CA376433909 | MTPAP | c.1691A>T (p.Asn564Ile) n.3446A>T | |
| 10 | g.30313667T>C | CA376433910 | MTPAP | c.1691A>G (p.Asn564Ser) n.3446A>G | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.30313667T>G | CA376433912 | MTPAP | c.1691A>C (p.Asn564Thr) n.3446A>C | |
| 10 | g.30313667T= | CA1899313947 | MTPAP | c.1691A= (p.Asn564=) n.3446A= | |
| 10 | g.30313668T>A | CA376433914 | MTPAP | c.1690A>T (p.Asn564Tyr) n.3445A>T | |
| 10 | g.30313668T>C | CA376433915 | MTPAP | c.1690A>G (p.Asn564Asp) n.3445A>G | |
| 10 | g.30313668T>G | CA376433916 | MTPAP | c.1690A>C (p.Asn564His) n.3445A>C | |
| 10 | g.30313669A= | CA1899313948 | MTPAP | c.1689T= (p.Gly563=) n.3444T= | |
| 10 | g.30313669A>C | CA468797996 | MTPAP | c.1689T>G (p.Gly563=) n.3444T>G | |
| 10 | g.30313669A>G | CA468797997 | MTPAP | c.1689T>C (p.Gly563=) n.3444T>C | |
| 10 | g.30313669A>T | CA468797998 | MTPAP | c.1689T>A (p.Gly563=) n.3444T>A | dbSNP |
| 10 | g.30313670C>A | CA376433917 | MTPAP | c.1688G>T (p.Gly563Val) n.3443G>T | |
| 10 | g.30313670C= | CA1899313949 | MTPAP | c.1688G= (p.Gly563=) n.3443G= | |
| 10 | g.30313670C>G | CA376433919 | MTPAP | c.1688G>C (p.Gly563Ala) n.3443G>C | ClinVar |
| 10 | g.30313670C>T | CA376433921 | MTPAP | c.1688G>A (p.Gly563Asp) n.3443G>A | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.30313671C>A | CA376433923 | MTPAP | c.1687G>T (p.Gly563Cys) n.3442G>T | dbSNP gnomAD v4 |
| 10 | g.30313671C>G | CA376433926 | MTPAP | c.1687G>C (p.Gly563Arg) n.3442G>C | |
| 10 | g.30313671C>T | CA376433924 | MTPAP | c.1687G>A (p.Gly563Ser) n.3442G>A | |
| 10 | g.30313672T>A | CA376433927 | MTPAP | c.1686A>T (p.Lys562Asn) n.3441A>T | |
| 10 | g.30313672T>C | CA468797999 | MTPAP | c.1686A>G (p.Lys562=) n.3441A>G | |
| 10 | g.30313672T>G | CA376433928 | MTPAP | c.1686A>C (p.Lys562Asn) n.3441A>C | |
| 10 | g.30313673T>A | CA376433930 | MTPAP | c.1685A>T (p.Lys562Ile) n.3440A>T | |
| 10 | g.30313673T>C | CA376433931 | MTPAP | c.1685A>G (p.Lys562Arg) n.3440A>G | |
| 10 | g.30313673T>G | CA376433933 | MTPAP | c.1685A>C (p.Lys562Thr) n.3440A>C | |
| 10 | g.30313674T>A | CA376433935 | MTPAP | c.1684A>T (p.Lys562Ter) n.3439A>T | |
| 10 | g.30313674T>C | CA376433936 | MTPAP | c.1684A>G (p.Lys562Glu) n.3439A>G | |
| 10 | g.30313674T>G | CA376433939 | MTPAP | c.1684A>C (p.Lys562Gln) n.3439A>C | COSMIC COSMIC |
| 10 | g.30313675T>A | CA376433941 | MTPAP | c.1683A>T (p.Leu561Phe) n.3438A>T | |
| 10 | g.30313675T>C | CA468798000 | MTPAP | c.1683A>G (p.Leu561=) n.3438A>G | |
| 10 | g.30313675T>G | CA376433942 | MTPAP | c.1683A>C (p.Leu561Phe) n.3438A>C | |
| 10 | g.30313676A>C | CA376433947 | MTPAP | c.1682T>G (p.Leu561Ter) n.3437T>G | |
| 10 | g.30313676A>G | CA376433948 | MTPAP | c.1682T>C (p.Leu561Ser) n.3437T>C | |
| 10 | g.30313676A>T | CA376433945 | MTPAP | c.1682T>A (p.Leu561Ter) n.3437T>A | |
| 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 |