Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.30313565C>ACA2608695684MTPAPc.*44G>T (n.*44G>T)
n.3548G>T
gnomAD v4
10g.30313565C=CA1899313899MTPAPc.*44G= (n.*44G=)
n.3548G=
10g.30313565C>GCA5458885MTPAPc.*44G>C (n.*44G>C)
n.3548G>C
dbSNP ExAC gnomAD v2 gnomAD v4
10g.30313565C>TCA5458886MTPAPc.*44G>A (n.*44G>A)
n.3548G>A
dbSNP ExAC gnomAD v2 gnomAD v4
10g.30313568T>CCA663650054MTPAPc.*41A>G (n.*41A>G)
n.3545A>G
dbSNP gnomAD v3 gnomAD v4
10g.30313568T=CA1899313900MTPAPc.*41A= (n.*41A=)
n.3545A=
10g.30313569T>CCA5458887MTPAPc.*40A>G (n.*40A>G)
n.3544A>G
dbSNP ExAC gnomAD v2 gnomAD v4
10g.30313569T=CA1899313901MTPAPc.*40A= (n.*40A=)
n.3544A=
10g.30313570G>ACA5458888MTPAPc.*39C>T (n.*39C>T)
n.3543C>T
dbSNP ExAC gnomAD v2 gnomAD v4
10g.30313570G=CA1899313902MTPAPc.*39C= (n.*39C=)
n.3543C=
10g.30313572T>CCA2608695685MTPAPc.*37A>G (n.*37A>G)
n.3541A>G
gnomAD v4
10g.30313574G>ACA2608695686MTPAPc.*35C>T (n.*35C>T)
n.3539C>T
gnomAD v4
10g.30313574_30313575insTTCA2608695688MTPAPc.*34_*35insAA (n.*34_*35insAA)
n.3538_3539insAA
gnomAD v4
10g.30313575G>ACA2608695687MTPAPc.*34C>T (n.*34C>T)
n.3538C>T
gnomAD v4
10g.30313575G>CCA663650059MTPAPc.*34C>G (n.*34C>G)
n.3538C>G
dbSNP gnomAD v4
10g.30313575G=CA1899313903MTPAPc.*34C= (n.*34C=)
n.3538C=
10g.30313576C>ACA1899313905MTPAPc.*33G>T (n.*33G>T)
n.3537G>T
dbSNP
10g.30313576C=CA1899313904MTPAPc.*33G= (n.*33G=)
n.3537G=
10g.30313576C>TCA2608695689MTPAPc.*33G>A (n.*33G>A)
n.3537G>A
gnomAD v4
10g.30313580G>ACA1899313907MTPAPc.*29C>T (n.*29C>T)
n.3533C>T
dbSNP gnomAD v4
10g.30313580G=CA1899313906MTPAPc.*29C= (n.*29C=)
n.3533C=
10g.30313581C>ACA2787135258MTPAPc.*28G>T (n.*28G>T)
n.3532G>T
10g.30313583delCA2608695690MTPAPc.*28del (n.*28del)
n.3532del
gnomAD v4
10g.30313582C=CA1899313908MTPAPc.*27G= (n.*27G=)
n.3531G=
10g.30313582C>TCA5458889MTPAPc.*27G>A (n.*27G>A)
n.3531G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313584A>GCA2608695691MTPAPc.*25T>C (n.*25T>C)
n.3529T>C
gnomAD v4
10g.30313585G>ACA5458890MTPAPc.*24C>T (n.*24C>T)
n.3528C>T
dbSNP ExAC gnomAD v2
10g.30313585G=CA1899313909MTPAPc.*24C= (n.*24C=)
n.3528C=
10g.30313587T>ACA592449208MTPAPc.*22A>T (n.*22A>T)
n.3526A>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.30313587T=CA1899313910MTPAPc.*22A= (n.*22A=)
n.3526A=
10g.30313589T>CCA1899313912MTPAPc.*20A>G (n.*20A>G)
n.3524A>G
dbSNP gnomAD v4
10g.30313589T=CA1899313911MTPAPc.*20A= (n.*20A=)
n.3524A=
10g.30313591T>CCA1899313913MTPAPc.*18A>G (n.*18A>G)
n.3522A>G
dbSNP
10g.30313591T=CA1899313914MTPAPc.*18A= (n.*18A=)
n.3522A=
10g.30313593C>ACA592449210MTPAPc.*16G>T (n.*16G>T)
n.3520G>T
dbSNP gnomAD v2 gnomAD v4
10g.30313593C=CA1899313915MTPAPc.*16G= (n.*16G=)
n.3520G=
10g.30313593C>GCA592449209MTPAPc.*16G>C (n.*16G>C)
n.3520G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.30313593C>TCA2608695692MTPAPc.*16G>A (n.*16G>A)
n.3520G>A
gnomAD v4
10g.30313595C>ACA5458892MTPAPc.*14G>T (n.*14G>T)
n.3518G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313595C=CA1899313916MTPAPc.*14G= (n.*14G=)
n.3518G=
10g.30313595C>TCA5458891MTPAPc.*14G>A (n.*14G>A)
n.3518G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313597A=CA1899313917MTPAPc.*12T= (n.*12T=)
n.3516T=
10g.30313597A>GCA5458893MTPAPc.*12T>C (n.*12T>C)
n.3516T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313598T>CCA5458894MTPAPc.*11A>G (n.*11A>G)
n.3515A>G
dbSNP ExAC gnomAD v2 gnomAD v4
10g.30313598T>GCA1899313919MTPAPc.*11A>C (n.*11A>C)
n.3515A>C
dbSNP gnomAD v4
10g.30313598T=CA1899313918MTPAPc.*11A= (n.*11A=)
n.3515A=
10g.30313599G>ACA592449212MTPAPc.*10C>T (n.*10C>T)
n.3514C>T
dbSNP gnomAD v2 gnomAD v4
10g.30313599G=CA1899313920MTPAPc.*10C= (n.*10C=)
n.3514C=
10g.30313600T>ACA5458895MTPAPc.*9A>T (n.*9A>T)
n.3513A>T
dbSNP ExAC gnomAD v2 gnomAD v4
10g.30313600T>CCA2787135259MTPAPc.*9A>G (n.*9A>G)
n.3513A>G
10g.30313600T=CA1899313921MTPAPc.*9A= (n.*9A=)
n.3513A=
10g.30313601A>GCA2608695695MTPAPc.*8T>C (n.*8T>C)
n.3512T>C
gnomAD v4
10g.30313605G>CCA2608695696MTPAPc.*4C>G (n.*4C>G)
n.3508C>G
gnomAD v4
10g.30313606C>ACA2608695701MTPAPc.*3G>T (n.*3G>T)
n.3507G>T
gnomAD v4
10g.30313606C>GCA2608695700MTPAPc.*3G>C (n.*3G>C)
n.3507G>C
gnomAD v4
10g.30313606C>TCA2608695698MTPAPc.*3G>A (n.*3G>A)
n.3507G>A
gnomAD v4
10g.30313607_30313610delCA2608695697MTPAPc.1749_*3del (n.[c.1749_*3del;Ter583CysextTer6])
n.3504_3507del
gnomAD v4
10g.30313607C>ACA2608695702MTPAPc.*2G>T (n.*2G>T)
n.3506G>T
gnomAD v4
10g.30313609T>ACA376433675MTPAPc.1749A>T (p.Ter583Cys)
n.3504A>T
10g.30313609T>CCA376433674MTPAPc.1749A>G (p.Ter583Trp)
n.3504A>G
10g.30313609T>GCA376433673MTPAPc.1749A>C (p.Ter583Cys)
n.3504A>C
10g.30313610C>ACA376433676MTPAPc.1748G>T (p.Ter583Leu)
n.3503G>T
gnomAD v4
10g.30313610C>GCA376433677MTPAPc.1748G>C (p.Ter583Ser)
n.3503G>C
10g.30313610C>TCA468797959MTPAPc.1748G>A (p.Ter583=)
n.3503G>A
10g.30313611A=CA1899313922MTPAPc.1747T= (p.Ter583=)
n.3502T=
10g.30313611A>CCA376433680MTPAPc.1747T>G (p.Ter583Gly)
n.3502T>G
10g.30313611A>GCA376433682MTPAPc.1747T>C (p.Ter583Arg)
n.3502T>C
10g.30313611A>TCA5458896MTPAPc.1747T>A (p.Ter583Arg)
n.3502T>A
dbSNP ExAC gnomAD v2 gnomAD v4
10g.30313611_30313613delCA2608695705MTPAPc.1745_1747del (p.Thr582_Ter583delinsArg)
n.3500_3502del
gnomAD v4
10g.30313612T>ACA468797960MTPAPc.1746A>T (p.Thr582=)
n.3501A>T
gnomAD v4
10g.30313612T>CCA468797961MTPAPc.1746A>G (p.Thr582=)
n.3501A>G
gnomAD v4
10g.30313612T>GCA468797962MTPAPc.1746A>C (p.Thr582=)
n.3501A>C
10g.30313613G>ACA376433685MTPAPc.1745C>T (p.Thr582Ile)
n.3500C>T
dbSNP gnomAD v3 gnomAD v4
10g.30313613G>CCA376433688MTPAPc.1745C>G (p.Thr582Arg)
n.3500C>G
10g.30313613G=CA1899313923MTPAPc.1745C= (p.Thr582=)
n.3500C=
10g.30313613G>TCA376433690MTPAPc.1745C>A (p.Thr582Lys)
n.3500C>A
10g.30313614T>ACA376433691MTPAPc.1744A>T (p.Thr582Ser)
n.3499A>T
dbSNP gnomAD v2 gnomAD v4
10g.30313614T>CCA376433694MTPAPc.1744A>G (p.Thr582Ala)
n.3499A>G
10g.30313614T>GCA376433695MTPAPc.1744A>C (p.Thr582Pro)
n.3499A>C
10g.30313614T=CA1899313924MTPAPc.1744A= (p.Thr582=)
n.3499A=
10g.30313615C>ACA376433698MTPAPc.1743G>T (p.Gln581His)
n.3498G>T
10g.30313615C=CA1899313925MTPAPc.1743G= (p.Gln581=)
n.3498G=
10g.30313615C>GCA376433700MTPAPc.1743G>C (p.Gln581His)
n.3498G>C
10g.30313615C>TCA468797963MTPAPc.1743G>A (p.Gln581=)
n.3498G>A
dbSNP gnomAD v3 gnomAD v4
10g.30313616T>ACA376433706MTPAPc.1742A>T (p.Gln581Leu)
n.3497A>T
10g.30313616T>CCA376433704MTPAPc.1742A>G (p.Gln581Arg)
n.3497A>G
10g.30313616T>GCA376433702MTPAPc.1742A>C (p.Gln581Pro)
n.3497A>C
10g.30313616_30313624delCA2608695707MTPAPc.1734_1742del (p.Ile578_Gln581delinsMet)
n.3489_3497del
gnomAD v4
10g.30313617G>ACA376433708MTPAPc.1741C>T (p.Gln581Ter)
n.3496C>T
10g.30313617G>CCA376433710MTPAPc.1741C>G (p.Gln581Glu)
n.3496C>G
gnomAD v4
10g.30313617G>TCA376433712MTPAPc.1741C>A (p.Gln581Lys)
n.3496C>A
10g.30313618A>CCA468797966MTPAPc.1740T>G (p.Thr580=)
n.3495T>G
gnomAD v4
10g.30313618A>GCA468797964MTPAPc.1740T>C (p.Thr580=)
n.3495T>C
10g.30313618A>TCA468797965MTPAPc.1740T>A (p.Thr580=)
n.3495T>A
10g.30313619G>ACA376433713MTPAPc.1739C>T (p.Thr580Ile)
n.3494C>T
10g.30313619G>CCA376433715MTPAPc.1739C>G (p.Thr580Ser)
n.3494C>G
10g.30313619G>TCA376433716MTPAPc.1739C>A (p.Thr580Asn)
n.3494C>A
10g.30313620T>ACA376433717MTPAPc.1738A>T (p.Thr580Ser)
n.3493A>T
10g.30313620T>CCA376433718MTPAPc.1738A>G (p.Thr580Ala)
n.3493A>G
gnomAD v4
10g.30313620T>GCA376433719MTPAPc.1738A>C (p.Thr580Pro)
n.3493A>C
10g.30313621A>CCA376433720MTPAPc.1737T>G (p.Ser579Arg)
n.3492T>G
10g.30313621A>GCA468797967MTPAPc.1737T>C (p.Ser579=)
n.3492T>C
10g.30313621A>TCA376433722MTPAPc.1737T>A (p.Ser579Arg)
n.3492T>A
10g.30313622C>ACA376433724MTPAPc.1736G>T (p.Ser579Ile)
n.3491G>T
10g.30313622C=CA1899313926MTPAPc.1736G= (p.Ser579=)
n.3491G=
10g.30313622C>GCA376433725MTPAPc.1736G>C (p.Ser579Thr)
n.3491G>C
dbSNP COSMIC COSMIC
10g.30313622C>TCA5458897MTPAPc.1736G>A (p.Ser579Asn)
n.3491G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.30313623T>ACA376433728MTPAPc.1735A>T (p.Ser579Cys)
n.3490A>T
COSMIC COSMIC
10g.30313623T>CCA5458898MTPAPc.1735A>G (p.Ser579Gly)
n.3490A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313623T>GCA376433726MTPAPc.1735A>C (p.Ser579Arg)
n.3490A>C
10g.30313623T=CA1899313927MTPAPc.1735A= (p.Ser579=)
n.3490A=
10g.30313624A>CCA376433730MTPAPc.1734T>G (p.Ile578Met)
n.3489T>G
10g.30313624A>GCA468797968MTPAPc.1734T>C (p.Ile578=)
n.3489T>C
10g.30313624A>TCA468797969MTPAPc.1734T>A (p.Ile578=)
n.3489T>A
10g.30313625A=CA1899313928MTPAPc.1733T= (p.Ile578=)
n.3488T=
10g.30313625A>CCA376433731MTPAPc.1733T>G (p.Ile578Ser)
n.3488T>G
dbSNP gnomAD v3 gnomAD v4
10g.30313625A>GCA376433733MTPAPc.1733T>C (p.Ile578Thr)
n.3488T>C
10g.30313625A>TCA376433734MTPAPc.1733T>A (p.Ile578Asn)
n.3488T>A
gnomAD v4
10g.30313626T>ACA376433736MTPAPc.1732A>T (p.Ile578Phe)
n.3487A>T
10g.30313626T>CCA5458899MTPAPc.1732A>G (p.Ile578Val)
n.3487A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313626T>GCA376433738MTPAPc.1732A>C (p.Ile578Leu)
n.3487A>C
10g.30313626T=CA1899313929MTPAPc.1732A= (p.Ile578=)
n.3487A=
10g.30313627T>ACA468797970MTPAPc.1731A>T (p.Thr577=)
n.3486A>T
10g.30313627T>CCA468797971MTPAPc.1731A>G (p.Thr577=)
n.3486A>G
10g.30313627T>GCA5458900MTPAPc.1731A>C (p.Thr577=)
n.3486A>C
dbSNP ExAC
10g.30313627T=CA1899313930MTPAPc.1731A= (p.Thr577=)
n.3486A=
10g.30313628G>ACA376433744MTPAPc.1730C>T (p.Thr577Ile)
n.3485C>T
gnomAD v4
10g.30313628G>CCA376433745MTPAPc.1730C>G (p.Thr577Arg)
n.3485C>G
10g.30313628G>TCA376433747MTPAPc.1730C>A (p.Thr577Lys)
n.3485C>A
gnomAD v4
10g.30313629T>ACA376433750MTPAPc.1729A>T (p.Thr577Ser)
n.3484A>T
dbSNP gnomAD v2 gnomAD v4
10g.30313629T>CCA376433752MTPAPc.1729A>G (p.Thr577Ala)
n.3484A>G
10g.30313629T>GCA376433754MTPAPc.1729A>C (p.Thr577Pro)
n.3484A>C
10g.30313629T=CA1899313931MTPAPc.1729A= (p.Thr577=)
n.3484A=
10g.30313630T>ACA376433761MTPAPc.1728A>T (p.Arg576Ser)
n.3483A>T
10g.30313630T>CCA468797972MTPAPc.1728A>G (p.Arg576=)
n.3483A>G
10g.30313630T>GCA376433756MTPAPc.1728A>C (p.Arg576Ser)
n.3483A>C
gnomAD v4
10g.30313630_30313631insACA2787135260MTPAPc.1727_1728insT (p.Arg576SerfsTer4)
n.3482_3483insT
10g.30313631C>ACA376433765MTPAPc.1727G>T (p.Arg576Ile)
n.3482G>T
10g.30313631C>GCA376433767MTPAPc.1727G>C (p.Arg576Thr)
n.3482G>C
ClinVar
10g.30313631C>TCA376433769MTPAPc.1727G>A (p.Arg576Lys)
n.3482G>A
10g.30313632T>ACA376433771MTPAPc.1726A>T (p.Arg576Ter)
n.3481A>T
10g.30313632T>CCA376433773MTPAPc.1726A>G (p.Arg576Gly)
n.3481A>G
gnomAD v4
10g.30313632T>GCA468797973MTPAPc.1726A>C (p.Arg576=)
n.3481A>C
10g.30313633C>ACA376433774MTPAPc.1725G>T (p.Lys575Asn)
n.3480G>T
10g.30313633C>GCA376433775MTPAPc.1725G>C (p.Lys575Asn)
n.3480G>C
gnomAD v4
10g.30313633C>TCA468797975MTPAPc.1725G>A (p.Lys575=)
n.3480G>A
10g.30313634T>ACA376433777MTPAPc.1724A>T (p.Lys575Met)
n.3479A>T
10g.30313634T>CCA5458901MTPAPc.1724A>G (p.Lys575Arg)
n.3479A>G
dbSNP ExAC gnomAD v2 gnomAD v4
10g.30313634T>GCA376433779MTPAPc.1724A>C (p.Lys575Thr)
n.3479A>C
10g.30313634T=CA1899313932MTPAPc.1724A= (p.Lys575=)
n.3479A=
10g.30313635T>ACA376433781MTPAPc.1723A>T (p.Lys575Ter)
n.3478A>T
10g.30313635T>CCA376433782MTPAPc.1723A>G (p.Lys575Glu)
n.3478A>G
10g.30313635T>GCA376433784MTPAPc.1723A>C (p.Lys575Gln)
n.3478A>C
10g.30313636C>ACA468797976MTPAPc.1722G>T (p.Gly574=)
n.3477G>T
dbSNP gnomAD v3 gnomAD v4
10g.30313636C=CA1899313933MTPAPc.1722G= (p.Gly574=)
n.3477G=
10g.30313636C>GCA468797977MTPAPc.1722G>C (p.Gly574=)
n.3477G>C
gnomAD v4
10g.30313636C>TCA468797978MTPAPc.1722G>A (p.Gly574=)
n.3477G>A
gnomAD v4
10g.30313637C>ACA376433791MTPAPc.1721G>T (p.Gly574Val)
n.3476G>T
10g.30313637C>GCA376433786MTPAPc.1721G>C (p.Gly574Ala)
n.3476G>C
10g.30313637C>TCA376433788MTPAPc.1721G>A (p.Gly574Glu)
n.3476G>A
gnomAD v4
10g.30313638C>ACA376433795MTPAPc.1720G>T (p.Gly574Trp)
n.3475G>T
10g.30313638C=CA1899313934MTPAPc.1720G= (p.Gly574=)
n.3475G=
10g.30313638C>GCA376433799MTPAPc.1720G>C (p.Gly574Arg)
n.3475G>C
10g.30313638C>TCA376433797MTPAPc.1720G>A (p.Gly574Arg)
n.3475G>A
dbSNP gnomAD v4
10g.30313639A>CCA376433801MTPAPc.1719T>G (p.Ser573Arg)
n.3474T>G
10g.30313639A>GCA468797979MTPAPc.1719T>C (p.Ser573=)
n.3474T>C
10g.30313639A>TCA376433802MTPAPc.1719T>A (p.Ser573Arg)
n.3474T>A
10g.30313640C>ACA376433804MTPAPc.1718G>T (p.Ser573Ile)
n.3473G>T
COSMIC COSMIC
10g.30313640C=CA1899313935MTPAPc.1718G= (p.Ser573=)
n.3473G=
10g.30313640C>GCA376433806MTPAPc.1718G>C (p.Ser573Thr)
n.3473G>C
dbSNP gnomAD v2 gnomAD v4
10g.30313640C>TCA5458902MTPAPc.1718G>A (p.Ser573Asn)
n.3473G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.30313640_30313643dupCA645544915MTPAPc.1715_1718dup (p.Gly574GlnfsTer7)
n.3470_3473dup
COSMIC COSMIC
10g.30313641T>ACA376433808MTPAPc.1717A>T (p.Ser573Cys)
n.3472A>T
10g.30313641T>CCA376433811MTPAPc.1717A>G (p.Ser573Gly)
n.3472A>G
10g.30313641T>GCA376433812MTPAPc.1717A>C (p.Ser573Arg)
n.3472A>C
10g.30313642G>ACA468797980MTPAPc.1716C>T (p.Thr572=)
n.3471C>T
10g.30313642G>CCA468797981MTPAPc.1716C>G (p.Thr572=)
n.3471C>G
10g.30313642G>TCA468797982MTPAPc.1716C>A (p.Thr572=)
n.3471C>A
10g.30313643G>ACA376433814MTPAPc.1715C>T (p.Thr572Ile)
n.3470C>T
dbSNP gnomAD v2 gnomAD v4
10g.30313643G>CCA376433815MTPAPc.1715C>G (p.Thr572Ser)
n.3470C>G
10g.30313643G=CA1899313936MTPAPc.1715C= (p.Thr572=)
n.3470C=
10g.30313643G>TCA376433818MTPAPc.1715C>A (p.Thr572Asn)
n.3470C>A
10g.30313644T>ACA376433819MTPAPc.1714A>T (p.Thr572Ser)
n.3469A>T
10g.30313644T>CCA376433820MTPAPc.1714A>G (p.Thr572Ala)
n.3469A>G
10g.30313644T>GCA376433822MTPAPc.1714A>C (p.Thr572Pro)
n.3469A>C
gnomAD v4
10g.30313648dupCA645544916MTPAPc.1714dup (p.Thr572AsnfsTer8)
n.3469dup
COSMIC COSMIC
10g.30313645T>ACA376433825MTPAPc.1713A>T (p.Lys571Asn)
n.3468A>T
10g.30313645T>CCA468797983MTPAPc.1713A>G (p.Lys571=)
n.3468A>G
10g.30313645T>GCA376433827MTPAPc.1713A>C (p.Lys571Asn)
n.3468A>C
10g.30313646T>ACA376433829MTPAPc.1712A>T (p.Lys571Ile)
n.3467A>T
10g.30313646T>CCA376433831MTPAPc.1712A>G (p.Lys571Arg)
n.3467A>G
10g.30313646T>GCA376433833MTPAPc.1712A>C (p.Lys571Thr)
n.3467A>C
10g.30313647T>ACA376433835MTPAPc.1711A>T (p.Lys571Ter)
n.3466A>T
10g.30313647T>CCA5458903MTPAPc.1711A>G (p.Lys571Glu)
n.3466A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.30313647T>GCA376433837MTPAPc.1711A>C (p.Lys571Gln)
n.3466A>C
10g.30313647T=CA1899313937MTPAPc.1711A= (p.Lys571=)
n.3466A=
10g.30313648T>ACA468797984MTPAPc.1710A>T (p.Thr570=)
n.3465A>T
10g.30313648T>CCA468797985MTPAPc.1710A>G (p.Thr570=)
n.3465A>G
10g.30313648T>GCA468797986MTPAPc.1710A>C (p.Thr570=)
n.3465A>C
10g.30313649G>ACA376433839MTPAPc.1709C>T (p.Thr570Ile)
n.3464C>T
10g.30313649G>CCA5458904MTPAPc.1709C>G (p.Thr570Arg)
n.3464C>G
dbSNP ExAC gnomAD v2
10g.30313649G=CA1899313938MTPAPc.1709C= (p.Thr570=)
n.3464C=
10g.30313649G>TCA376433842MTPAPc.1709C>A (p.Thr570Lys)
n.3464C>A
gnomAD v4
10g.30313650T>ACA376433844MTPAPc.1708A>T (p.Thr570Ser)
n.3463A>T
dbSNP gnomAD v2 gnomAD v4
10g.30313650T>CCA376433845MTPAPc.1708A>G (p.Thr570Ala)
n.3463A>G
10g.30313650T>GCA376433846MTPAPc.1708A>C (p.Thr570Pro)
n.3463A>C
10g.30313650T=CA1899313939MTPAPc.1708A= (p.Thr570=)
n.3463A=
10g.30313651G>ACA468797987MTPAPc.1707C>T (p.Phe569=)
n.3462C>T
gnomAD v4 COSMIC COSMIC
10g.30313651G>CCA376433847MTPAPc.1707C>G (p.Phe569Leu)
n.3462C>G
10g.30313651G>TCA376433849MTPAPc.1707C>A (p.Phe569Leu)
n.3462C>A
10g.30313652A>CCA376433851MTPAPc.1706T>G (p.Phe569Cys)
n.3461T>G
10g.30313652A>GCA376433852MTPAPc.1706T>C (p.Phe569Ser)
n.3461T>C
10g.30313652A>TCA376433854MTPAPc.1706T>A (p.Phe569Tyr)
n.3461T>A
10g.30313653A>CCA376433855MTPAPc.1705T>G (p.Phe569Val)
n.3460T>G
10g.30313653A>GCA376433858MTPAPc.1705T>C (p.Phe569Leu)
n.3460T>C
10g.30313653A>TCA376433860MTPAPc.1705T>A (p.Phe569Ile)
n.3460T>A
10g.30313654A>CCA376433862MTPAPc.1704T>G (p.Asn568Lys)
n.3459T>G
10g.30313654A>GCA468797988MTPAPc.1704T>C (p.Asn568=)
n.3459T>C
10g.30313654A>TCA376433865MTPAPc.1704T>A (p.Asn568Lys)
n.3459T>A
10g.30313655T>ACA376433869MTPAPc.1703A>T (p.Asn568Ile)
n.3458A>T
10g.30313655T>CCA376433871MTPAPc.1703A>G (p.Asn568Ser)
n.3458A>G
10g.30313655T>GCA376433872MTPAPc.1703A>C (p.Asn568Thr)
n.3458A>C
10g.30313656T>ACA376433875MTPAPc.1702A>T (p.Asn568Tyr)
n.3457A>T
10g.30313656T>CCA376433877MTPAPc.1702A>G (p.Asn568Asp)
n.3457A>G
10g.30313656T>GCA376433878MTPAPc.1702A>C (p.Asn568His)
n.3457A>C
COSMIC COSMIC
10g.30313657T>ACA376433880MTPAPc.1701A>T (p.Glu567Asp)
n.3456A>T
10g.30313657T>CCA468797990MTPAPc.1701A>G (p.Glu567=)
n.3456A>G
10g.30313657T>GCA376433881MTPAPc.1701A>C (p.Glu567Asp)
n.3456A>C
10g.30313658T>ACA376433882MTPAPc.1700A>T (p.Glu567Val)
n.3455A>T
10g.30313658T>CCA376433884MTPAPc.1700A>G (p.Glu567Gly)
n.3455A>G
10g.30313658T>GCA376433886MTPAPc.1700A>C (p.Glu567Ala)
n.3455A>C
10g.30313659C>ACA376433887MTPAPc.1699G>T (p.Glu567Ter)
n.3454G>T
10g.30313659C=CA1899313940MTPAPc.1699G= (p.Glu567=)
n.3454G=
10g.30313659C>GCA376433888MTPAPc.1699G>C (p.Glu567Gln)
n.3454G>C
10g.30313659C>TCA376433889MTPAPc.1699G>A (p.Glu567Lys)
n.3454G>A
dbSNP gnomAD v3 gnomAD v4
10g.30313660T>ACA468797992MTPAPc.1698A>T (p.Thr566=)
n.3453A>T
10g.30313660T>CCA468797993MTPAPc.1698A>G (p.Thr566=)
n.3453A>G
gnomAD v4
10g.30313660T>GCA468797991MTPAPc.1698A>C (p.Thr566=)
n.3453A>C
dbSNP
10g.30313660T=CA1899313941MTPAPc.1698A= (p.Thr566=)
n.3453A=
10g.30313661G>ACA376433890MTPAPc.1697C>T (p.Thr566Ile)
n.3452C>T
gnomAD v4
10g.30313661G>CCA376433891MTPAPc.1697C>G (p.Thr566Arg)
n.3452C>G
gnomAD v4
10g.30313661G>TCA376433892MTPAPc.1697C>A (p.Thr566Lys)
n.3452C>A
10g.30313661_30313665delinsGTTCTCA1899313942MTPAPc.1693_1697delinsAGAAC (p.Arg565=)
n.3448_3452delinsAGAAC
10g.30313662T>ACA376433893MTPAPc.1696A>T (p.Thr566Ser)
n.3451A>T
dbSNP
10g.30313662T>CCA376433894MTPAPc.1696A>G (p.Thr566Ala)
n.3451A>G
10g.30313662T>GCA376433895MTPAPc.1696A>C (p.Thr566Pro)
n.3451A>C
10g.30313662_30313664delinsTTCCA1899313944MTPAPc.1694_1696delinsGAA (p.Arg565=)
n.3449_3451delinsGAA
10g.30313662_30313665delCA1899313943MTPAPc.1693_1696del (p.Arg565GlnfsTer24)
n.3448_3451del
dbSNP
10g.30313663T>ACA376433896MTPAPc.1695A>T (p.Arg565Ser)
n.3450A>T
10g.30313663T>CCA468797994MTPAPc.1695A>G (p.Arg565=)
n.3450A>G
10g.30313663T>GCA376433898MTPAPc.1695A>C (p.Arg565Ser)
n.3450A>C
10g.30313664_30313665delCA5458905MTPAPc.1694_1695del (p.Arg565AsnfsTer14)
n.3449_3450del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313664C>ACA376433899MTPAPc.1694G>T (p.Arg565Ile)
n.3449G>T
gnomAD v4
10g.30313664C>GCA376433902MTPAPc.1694G>C (p.Arg565Thr)
n.3449G>C
10g.30313664C>TCA376433901MTPAPc.1694G>A (p.Arg565Lys)
n.3449G>A
10g.30313665T>ACA376433904MTPAPc.1693A>T (p.Arg565Ter)
n.3448A>T
10g.30313665T>CCA5458906MTPAPc.1693A>G (p.Arg565Gly)
n.3448A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.30313665T>GCA468797995MTPAPc.1693A>C (p.Arg565=)
n.3448A>C
10g.30313665T=CA1899313945MTPAPc.1693A= (p.Arg565=)
n.3448A=
10g.30313666_30313668delCA2787135261MTPAPc.1691_1693del (p.Asn564del)
n.3446_3448del

Number of alleles fetched