Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.30313563A= | CA1899313897 | MTPAP | c.*46T= (n.*46T=) n.3550T= | |
10 | g.30313563A>G | CA5458884 | MTPAP | c.*46T>C (n.*46T>C) n.3550T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313564C= | CA1899313898 | MTPAP | c.*45G= (n.*45G=) n.3549G= | |
10 | g.30313564C>T | CA205300747 | MTPAP | c.*45G>A (n.*45G>A) n.3549G>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313565C>A | CA2608695684 | MTPAP | c.*44G>T (n.*44G>T) n.3548G>T | gnomAD v4 |
10 | g.30313565C= | CA1899313899 | MTPAP | c.*44G= (n.*44G=) n.3548G= | |
10 | g.30313565C>G | CA5458885 | MTPAP | c.*44G>C (n.*44G>C) n.3548G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.30313565C>T | CA5458886 | MTPAP | c.*44G>A (n.*44G>A) n.3548G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.30313568T>C | CA663650054 | MTPAP | c.*41A>G (n.*41A>G) n.3545A>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.30313568T= | CA1899313900 | MTPAP | c.*41A= (n.*41A=) n.3545A= | |
10 | g.30313569T>C | CA5458887 | MTPAP | c.*40A>G (n.*40A>G) n.3544A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.30313569T= | CA1899313901 | MTPAP | c.*40A= (n.*40A=) n.3544A= | |
10 | g.30313570G>A | CA5458888 | MTPAP | c.*39C>T (n.*39C>T) n.3543C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.30313570G= | CA1899313902 | MTPAP | c.*39C= (n.*39C=) n.3543C= | |
10 | g.30313572T>C | CA2608695685 | MTPAP | c.*37A>G (n.*37A>G) n.3541A>G | gnomAD v4 |
10 | g.30313574G>A | CA2608695686 | MTPAP | c.*35C>T (n.*35C>T) n.3539C>T | gnomAD v4 |
10 | g.30313574_30313575insTT | CA2608695688 | MTPAP | c.*34_*35insAA (n.*34_*35insAA) n.3538_3539insAA | gnomAD v4 |
10 | g.30313575G>A | CA2608695687 | MTPAP | c.*34C>T (n.*34C>T) n.3538C>T | gnomAD v4 |
10 | g.30313575G>C | CA663650059 | MTPAP | c.*34C>G (n.*34C>G) n.3538C>G | dbSNP gnomAD v4 |
10 | g.30313575G= | CA1899313903 | MTPAP | c.*34C= (n.*34C=) n.3538C= | |
10 | g.30313576C>A | CA1899313905 | MTPAP | c.*33G>T (n.*33G>T) n.3537G>T | dbSNP |
10 | g.30313576C= | CA1899313904 | MTPAP | c.*33G= (n.*33G=) n.3537G= | |
10 | g.30313576C>T | CA2608695689 | MTPAP | c.*33G>A (n.*33G>A) n.3537G>A | gnomAD v4 |
10 | g.30313580G>A | CA1899313907 | MTPAP | c.*29C>T (n.*29C>T) n.3533C>T | dbSNP gnomAD v4 |
10 | g.30313580G= | CA1899313906 | MTPAP | c.*29C= (n.*29C=) n.3533C= | |
10 | g.30313581C>A | CA2787135258 | MTPAP | c.*28G>T (n.*28G>T) n.3532G>T | |
10 | g.30313583del | CA2608695690 | MTPAP | c.*28del (n.*28del) n.3532del | gnomAD v4 |
10 | g.30313582C= | CA1899313908 | MTPAP | c.*27G= (n.*27G=) n.3531G= | |
10 | g.30313582C>T | CA5458889 | MTPAP | c.*27G>A (n.*27G>A) n.3531G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313584A>G | CA2608695691 | MTPAP | c.*25T>C (n.*25T>C) n.3529T>C | gnomAD v4 |
10 | g.30313585G>A | CA5458890 | MTPAP | c.*24C>T (n.*24C>T) n.3528C>T | dbSNP ExAC gnomAD v2 |
10 | g.30313585G= | CA1899313909 | MTPAP | c.*24C= (n.*24C=) n.3528C= | |
10 | g.30313587T>A | CA592449208 | MTPAP | c.*22A>T (n.*22A>T) n.3526A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313587T= | CA1899313910 | MTPAP | c.*22A= (n.*22A=) n.3526A= | |
10 | g.30313589T>C | CA1899313912 | MTPAP | c.*20A>G (n.*20A>G) n.3524A>G | dbSNP gnomAD v4 |
10 | g.30313589T= | CA1899313911 | MTPAP | c.*20A= (n.*20A=) n.3524A= | |
10 | g.30313591T>C | CA1899313913 | MTPAP | c.*18A>G (n.*18A>G) n.3522A>G | dbSNP |
10 | g.30313591T= | CA1899313914 | MTPAP | c.*18A= (n.*18A=) n.3522A= | |
10 | g.30313593C>A | CA592449210 | MTPAP | c.*16G>T (n.*16G>T) n.3520G>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313593C= | CA1899313915 | MTPAP | c.*16G= (n.*16G=) n.3520G= | |
10 | g.30313593C>G | CA592449209 | MTPAP | c.*16G>C (n.*16G>C) n.3520G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313593C>T | CA2608695692 | MTPAP | c.*16G>A (n.*16G>A) n.3520G>A | gnomAD v4 |
10 | g.30313595C>A | CA5458892 | MTPAP | c.*14G>T (n.*14G>T) n.3518G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313595C= | CA1899313916 | MTPAP | c.*14G= (n.*14G=) n.3518G= | |
10 | g.30313595C>T | CA5458891 | MTPAP | c.*14G>A (n.*14G>A) n.3518G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313597A= | CA1899313917 | MTPAP | c.*12T= (n.*12T=) n.3516T= | |
10 | g.30313597A>G | CA5458893 | MTPAP | c.*12T>C (n.*12T>C) n.3516T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313598T>C | CA5458894 | MTPAP | c.*11A>G (n.*11A>G) n.3515A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.30313598T>G | CA1899313919 | MTPAP | c.*11A>C (n.*11A>C) n.3515A>C | dbSNP gnomAD v4 |
10 | g.30313598T= | CA1899313918 | MTPAP | c.*11A= (n.*11A=) n.3515A= | |
10 | g.30313599G>A | CA592449212 | MTPAP | c.*10C>T (n.*10C>T) n.3514C>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313599G= | CA1899313920 | MTPAP | c.*10C= (n.*10C=) n.3514C= | |
10 | g.30313600T>A | CA5458895 | MTPAP | c.*9A>T (n.*9A>T) n.3513A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.30313600T>C | CA2787135259 | MTPAP | c.*9A>G (n.*9A>G) n.3513A>G | |
10 | g.30313600T= | CA1899313921 | MTPAP | c.*9A= (n.*9A=) n.3513A= | |
10 | g.30313601A>G | CA2608695695 | MTPAP | c.*8T>C (n.*8T>C) n.3512T>C | gnomAD v4 |
10 | g.30313605G>C | CA2608695696 | MTPAP | c.*4C>G (n.*4C>G) n.3508C>G | gnomAD v4 |
10 | g.30313606C>A | CA2608695701 | MTPAP | c.*3G>T (n.*3G>T) n.3507G>T | gnomAD v4 |
10 | g.30313606C>G | CA2608695700 | MTPAP | c.*3G>C (n.*3G>C) n.3507G>C | gnomAD v4 |
10 | g.30313606C>T | CA2608695698 | MTPAP | c.*3G>A (n.*3G>A) n.3507G>A | gnomAD v4 |
10 | g.30313607_30313610del | CA2608695697 | MTPAP | c.1749_*3del (n.[c.1749_*3del;Ter583CysextTer6]) n.3504_3507del | gnomAD v4 |
10 | g.30313607C>A | CA2608695702 | MTPAP | c.*2G>T (n.*2G>T) n.3506G>T | gnomAD v4 |
10 | g.30313609T>A | CA376433675 | MTPAP | c.1749A>T (p.Ter583Cys) n.3504A>T | |
10 | g.30313609T>C | CA376433674 | MTPAP | c.1749A>G (p.Ter583Trp) n.3504A>G | |
10 | g.30313609T>G | CA376433673 | MTPAP | c.1749A>C (p.Ter583Cys) n.3504A>C | |
10 | g.30313610C>A | CA376433676 | MTPAP | c.1748G>T (p.Ter583Leu) n.3503G>T | gnomAD v4 |
10 | g.30313610C>G | CA376433677 | MTPAP | c.1748G>C (p.Ter583Ser) n.3503G>C | |
10 | g.30313610C>T | CA468797959 | MTPAP | c.1748G>A (p.Ter583=) n.3503G>A | |
10 | g.30313611A= | CA1899313922 | MTPAP | c.1747T= (p.Ter583=) n.3502T= | |
10 | g.30313611A>C | CA376433680 | MTPAP | c.1747T>G (p.Ter583Gly) n.3502T>G | |
10 | g.30313611A>G | CA376433682 | MTPAP | c.1747T>C (p.Ter583Arg) n.3502T>C | |
10 | g.30313611A>T | CA5458896 | MTPAP | c.1747T>A (p.Ter583Arg) n.3502T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.30313611_30313613del | CA2608695705 | MTPAP | c.1745_1747del (p.Thr582_Ter583delinsArg) n.3500_3502del | gnomAD v4 |
10 | g.30313612T>A | CA468797960 | MTPAP | c.1746A>T (p.Thr582=) n.3501A>T | gnomAD v4 |
10 | g.30313612T>C | CA468797961 | MTPAP | c.1746A>G (p.Thr582=) n.3501A>G | gnomAD v4 |
10 | g.30313612T>G | CA468797962 | MTPAP | c.1746A>C (p.Thr582=) n.3501A>C | |
10 | g.30313613G>A | CA376433685 | MTPAP | c.1745C>T (p.Thr582Ile) n.3500C>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.30313613G>C | CA376433688 | MTPAP | c.1745C>G (p.Thr582Arg) n.3500C>G | |
10 | g.30313613G= | CA1899313923 | MTPAP | c.1745C= (p.Thr582=) n.3500C= | |
10 | g.30313613G>T | CA376433690 | MTPAP | c.1745C>A (p.Thr582Lys) n.3500C>A | |
10 | g.30313614T>A | CA376433691 | MTPAP | c.1744A>T (p.Thr582Ser) n.3499A>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313614T>C | CA376433694 | MTPAP | c.1744A>G (p.Thr582Ala) n.3499A>G | |
10 | g.30313614T>G | CA376433695 | MTPAP | c.1744A>C (p.Thr582Pro) n.3499A>C | |
10 | g.30313614T= | CA1899313924 | MTPAP | c.1744A= (p.Thr582=) n.3499A= | |
10 | g.30313615C>A | CA376433698 | MTPAP | c.1743G>T (p.Gln581His) n.3498G>T | |
10 | g.30313615C= | CA1899313925 | MTPAP | c.1743G= (p.Gln581=) n.3498G= | |
10 | g.30313615C>G | CA376433700 | MTPAP | c.1743G>C (p.Gln581His) n.3498G>C | |
10 | g.30313615C>T | CA468797963 | MTPAP | c.1743G>A (p.Gln581=) n.3498G>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.30313616T>A | CA376433706 | MTPAP | c.1742A>T (p.Gln581Leu) n.3497A>T | |
10 | g.30313616T>C | CA376433704 | MTPAP | c.1742A>G (p.Gln581Arg) n.3497A>G | |
10 | g.30313616T>G | CA376433702 | MTPAP | c.1742A>C (p.Gln581Pro) n.3497A>C | |
10 | g.30313616_30313624del | CA2608695707 | MTPAP | c.1734_1742del (p.Ile578_Gln581delinsMet) n.3489_3497del | gnomAD v4 |
10 | g.30313617G>A | CA376433708 | MTPAP | c.1741C>T (p.Gln581Ter) n.3496C>T | |
10 | g.30313617G>C | CA376433710 | MTPAP | c.1741C>G (p.Gln581Glu) n.3496C>G | gnomAD v4 |
10 | g.30313617G>T | CA376433712 | MTPAP | c.1741C>A (p.Gln581Lys) n.3496C>A | |
10 | g.30313618A>C | CA468797966 | MTPAP | c.1740T>G (p.Thr580=) n.3495T>G | gnomAD v4 |
10 | g.30313618A>G | CA468797964 | MTPAP | c.1740T>C (p.Thr580=) n.3495T>C | |
10 | g.30313618A>T | CA468797965 | MTPAP | c.1740T>A (p.Thr580=) n.3495T>A | |
10 | g.30313619G>A | CA376433713 | MTPAP | c.1739C>T (p.Thr580Ile) n.3494C>T | |
10 | g.30313619G>C | CA376433715 | MTPAP | c.1739C>G (p.Thr580Ser) n.3494C>G | |
10 | g.30313619G>T | CA376433716 | MTPAP | c.1739C>A (p.Thr580Asn) n.3494C>A | |
10 | g.30313620T>A | CA376433717 | MTPAP | c.1738A>T (p.Thr580Ser) n.3493A>T | |
10 | g.30313620T>C | CA376433718 | MTPAP | c.1738A>G (p.Thr580Ala) n.3493A>G | gnomAD v4 |
10 | g.30313620T>G | CA376433719 | MTPAP | c.1738A>C (p.Thr580Pro) n.3493A>C | |
10 | g.30313621A>C | CA376433720 | MTPAP | c.1737T>G (p.Ser579Arg) n.3492T>G | |
10 | g.30313621A>G | CA468797967 | MTPAP | c.1737T>C (p.Ser579=) n.3492T>C | |
10 | g.30313621A>T | CA376433722 | MTPAP | c.1737T>A (p.Ser579Arg) n.3492T>A | |
10 | g.30313622C>A | CA376433724 | MTPAP | c.1736G>T (p.Ser579Ile) n.3491G>T | |
10 | g.30313622C= | CA1899313926 | MTPAP | c.1736G= (p.Ser579=) n.3491G= | |
10 | g.30313622C>G | CA376433725 | MTPAP | c.1736G>C (p.Ser579Thr) n.3491G>C | dbSNP COSMIC COSMIC |
10 | g.30313622C>T | CA5458897 | MTPAP | c.1736G>A (p.Ser579Asn) n.3491G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
10 | g.30313623T>A | CA376433728 | MTPAP | c.1735A>T (p.Ser579Cys) n.3490A>T | COSMIC COSMIC |
10 | g.30313623T>C | CA5458898 | MTPAP | c.1735A>G (p.Ser579Gly) n.3490A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313623T>G | CA376433726 | MTPAP | c.1735A>C (p.Ser579Arg) n.3490A>C | |
10 | g.30313623T= | CA1899313927 | MTPAP | c.1735A= (p.Ser579=) n.3490A= | |
10 | g.30313624A>C | CA376433730 | MTPAP | c.1734T>G (p.Ile578Met) n.3489T>G | |
10 | g.30313624A>G | CA468797968 | MTPAP | c.1734T>C (p.Ile578=) n.3489T>C | |
10 | g.30313624A>T | CA468797969 | MTPAP | c.1734T>A (p.Ile578=) n.3489T>A | |
10 | g.30313625A= | CA1899313928 | MTPAP | c.1733T= (p.Ile578=) n.3488T= | |
10 | g.30313625A>C | CA376433731 | MTPAP | c.1733T>G (p.Ile578Ser) n.3488T>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.30313625A>G | CA376433733 | MTPAP | c.1733T>C (p.Ile578Thr) n.3488T>C | |
10 | g.30313625A>T | CA376433734 | MTPAP | c.1733T>A (p.Ile578Asn) n.3488T>A | gnomAD v4 |
10 | g.30313626T>A | CA376433736 | MTPAP | c.1732A>T (p.Ile578Phe) n.3487A>T | |
10 | g.30313626T>C | CA5458899 | MTPAP | c.1732A>G (p.Ile578Val) n.3487A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30313626T>G | CA376433738 | MTPAP | c.1732A>C (p.Ile578Leu) n.3487A>C | |
10 | g.30313626T= | CA1899313929 | MTPAP | c.1732A= (p.Ile578=) n.3487A= | |
10 | g.30313627T>A | CA468797970 | MTPAP | c.1731A>T (p.Thr577=) n.3486A>T | |
10 | g.30313627T>C | CA468797971 | MTPAP | c.1731A>G (p.Thr577=) n.3486A>G | |
10 | g.30313627T>G | CA5458900 | MTPAP | c.1731A>C (p.Thr577=) n.3486A>C | dbSNP ExAC |
10 | g.30313627T= | CA1899313930 | MTPAP | c.1731A= (p.Thr577=) n.3486A= | |
10 | g.30313628G>A | CA376433744 | MTPAP | c.1730C>T (p.Thr577Ile) n.3485C>T | gnomAD v4 |
10 | g.30313628G>C | CA376433745 | MTPAP | c.1730C>G (p.Thr577Arg) n.3485C>G | |
10 | g.30313628G>T | CA376433747 | MTPAP | c.1730C>A (p.Thr577Lys) n.3485C>A | gnomAD v4 |
10 | g.30313629T>A | CA376433750 | MTPAP | c.1729A>T (p.Thr577Ser) n.3484A>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313629T>C | CA376433752 | MTPAP | c.1729A>G (p.Thr577Ala) n.3484A>G | |
10 | g.30313629T>G | CA376433754 | MTPAP | c.1729A>C (p.Thr577Pro) n.3484A>C | |
10 | g.30313629T= | CA1899313931 | MTPAP | c.1729A= (p.Thr577=) n.3484A= | |
10 | g.30313630T>A | CA376433761 | MTPAP | c.1728A>T (p.Arg576Ser) n.3483A>T | |
10 | g.30313630T>C | CA468797972 | MTPAP | c.1728A>G (p.Arg576=) n.3483A>G | |
10 | g.30313630T>G | CA376433756 | MTPAP | c.1728A>C (p.Arg576Ser) n.3483A>C | gnomAD v4 |
10 | g.30313630_30313631insA | CA2787135260 | MTPAP | c.1727_1728insT (p.Arg576SerfsTer4) n.3482_3483insT | |
10 | g.30313631C>A | CA376433765 | MTPAP | c.1727G>T (p.Arg576Ile) n.3482G>T | |
10 | g.30313631C>G | CA376433767 | MTPAP | c.1727G>C (p.Arg576Thr) n.3482G>C | ClinVar |
10 | g.30313631C>T | CA376433769 | MTPAP | c.1727G>A (p.Arg576Lys) n.3482G>A | |
10 | g.30313632T>A | CA376433771 | MTPAP | c.1726A>T (p.Arg576Ter) n.3481A>T | |
10 | g.30313632T>C | CA376433773 | MTPAP | c.1726A>G (p.Arg576Gly) n.3481A>G | gnomAD v4 |
10 | g.30313632T>G | CA468797973 | MTPAP | c.1726A>C (p.Arg576=) n.3481A>C | |
10 | g.30313633C>A | CA376433774 | MTPAP | c.1725G>T (p.Lys575Asn) n.3480G>T | |
10 | g.30313633C>G | CA376433775 | MTPAP | c.1725G>C (p.Lys575Asn) n.3480G>C | gnomAD v4 |
10 | g.30313633C>T | CA468797975 | MTPAP | c.1725G>A (p.Lys575=) n.3480G>A | |
10 | g.30313634T>A | CA376433777 | MTPAP | c.1724A>T (p.Lys575Met) n.3479A>T | |
10 | g.30313634T>C | CA5458901 | MTPAP | c.1724A>G (p.Lys575Arg) n.3479A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.30313634T>G | CA376433779 | MTPAP | c.1724A>C (p.Lys575Thr) n.3479A>C | |
10 | g.30313634T= | CA1899313932 | MTPAP | c.1724A= (p.Lys575=) n.3479A= | |
10 | g.30313635T>A | CA376433781 | MTPAP | c.1723A>T (p.Lys575Ter) n.3478A>T | |
10 | g.30313635T>C | CA376433782 | MTPAP | c.1723A>G (p.Lys575Glu) n.3478A>G | |
10 | g.30313635T>G | CA376433784 | MTPAP | c.1723A>C (p.Lys575Gln) n.3478A>C | |
10 | g.30313636C>A | CA468797976 | MTPAP | c.1722G>T (p.Gly574=) n.3477G>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.30313636C= | CA1899313933 | MTPAP | c.1722G= (p.Gly574=) n.3477G= | |
10 | g.30313636C>G | CA468797977 | MTPAP | c.1722G>C (p.Gly574=) n.3477G>C | gnomAD v4 |
10 | g.30313636C>T | CA468797978 | MTPAP | c.1722G>A (p.Gly574=) n.3477G>A | gnomAD v4 |
10 | g.30313637C>A | CA376433791 | MTPAP | c.1721G>T (p.Gly574Val) n.3476G>T | |
10 | g.30313637C>G | CA376433786 | MTPAP | c.1721G>C (p.Gly574Ala) n.3476G>C | |
10 | g.30313637C>T | CA376433788 | MTPAP | c.1721G>A (p.Gly574Glu) n.3476G>A | gnomAD v4 |
10 | g.30313638C>A | CA376433795 | MTPAP | c.1720G>T (p.Gly574Trp) n.3475G>T | |
10 | g.30313638C= | CA1899313934 | MTPAP | c.1720G= (p.Gly574=) n.3475G= | |
10 | g.30313638C>G | CA376433799 | MTPAP | c.1720G>C (p.Gly574Arg) n.3475G>C | |
10 | g.30313638C>T | CA376433797 | MTPAP | c.1720G>A (p.Gly574Arg) n.3475G>A | dbSNP gnomAD v4 |
10 | g.30313639A>C | CA376433801 | MTPAP | c.1719T>G (p.Ser573Arg) n.3474T>G | |
10 | g.30313639A>G | CA468797979 | MTPAP | c.1719T>C (p.Ser573=) n.3474T>C | |
10 | g.30313639A>T | CA376433802 | MTPAP | c.1719T>A (p.Ser573Arg) n.3474T>A | |
10 | g.30313640C>A | CA376433804 | MTPAP | c.1718G>T (p.Ser573Ile) n.3473G>T | COSMIC COSMIC |
10 | g.30313640C= | CA1899313935 | MTPAP | c.1718G= (p.Ser573=) n.3473G= | |
10 | g.30313640C>G | CA376433806 | MTPAP | c.1718G>C (p.Ser573Thr) n.3473G>C | dbSNP gnomAD v2 gnomAD v4 |
10 | g.30313640C>T | CA5458902 | MTPAP | c.1718G>A (p.Ser573Asn) n.3473G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
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 |