Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.30313793T>ACA376434440MTPAPc.1565A>T (p.Asn522Ile)
n.3320A>T
10g.30313793T>CCA5458922MTPAPc.1565A>G (p.Asn522Ser)
n.3320A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313793T>GCA376434441MTPAPc.1565A>C (p.Asn522Thr)
n.3320A>C
10g.30313793T=CA1899313995MTPAPc.1565A= (p.Asn522=)
n.3320A=
10g.30313794T>ACA376434454MTPAPc.1564A>T (p.Asn522Tyr)
n.3319A>T
10g.30313794T>CCA376434445MTPAPc.1564A>G (p.Asn522Asp)
n.3319A>G
ClinVar
10g.30313794T>GCA376434452MTPAPc.1564A>C (p.Asn522His)
n.3319A>C
10g.30313795A>CCA376434456MTPAPc.1563T>G (p.Ser521Arg)
n.3318T>G
10g.30313795A>GCA468798674MTPAPc.1563T>C (p.Ser521=)
n.3318T>C
10g.30313795A>TCA376434458MTPAPc.1563T>A (p.Ser521Arg)
n.3318T>A
10g.30313796C>ACA376434460MTPAPc.1562G>T (p.Ser521Ile)
n.3317G>T
10g.30313796C>GCA376434461MTPAPc.1562G>C (p.Ser521Thr)
n.3317G>C
10g.30313796C>TCA376434463MTPAPc.1562G>A (p.Ser521Asn)
n.3317G>A
10g.30313797T>ACA376434465MTPAPc.1561A>T (p.Ser521Cys)
n.3316A>T
10g.30313797T>CCA376434466MTPAPc.1561A>G (p.Ser521Gly)
n.3316A>G
10g.30313797T>GCA376434468MTPAPc.1561A>C (p.Ser521Arg)
n.3316A>C
10g.30313798T>ACA468798675MTPAPc.1560A>T (p.Ser520=)
n.3315A>T
10g.30313798T>CCA468798676MTPAPc.1560A>G (p.Ser520=)
n.3315A>G
10g.30313798T>GCA468798677MTPAPc.1560A>C (p.Ser520=)
n.3315A>C
gnomAD v4
10g.30313799G>ACA376434470MTPAPc.1559C>T (p.Ser520Leu)
n.3314C>T
10g.30313799G>CCA376434471MTPAPc.1559C>G (p.Ser520Ter)
n.3314C>G
10g.30313799G>TCA376434473MTPAPc.1559C>A (p.Ser520Ter)
n.3314C>A
10g.30313800A>CCA376434475MTPAPc.1558T>G (p.Ser520Ala)
n.3313T>G
10g.30313800A>GCA376434479MTPAPc.1558T>C (p.Ser520Pro)
n.3313T>C
10g.30313800A>TCA376434477MTPAPc.1558T>A (p.Ser520Thr)
n.3313T>A
10g.30313801T>ACA468798678MTPAPc.1557A>T (p.Ile519=)
n.3312A>T
10g.30313801T>CCA376434480MTPAPc.1557A>G (p.Ile519Met)
n.3312A>G
gnomAD v4
10g.30313801T>GCA468798679MTPAPc.1557A>C (p.Ile519=)
n.3312A>C
10g.30313802A=CA1899313996MTPAPc.1556T= (p.Ile519=)
n.3311T=
10g.30313802A>CCA376434481MTPAPc.1556T>G (p.Ile519Arg)
n.3311T>G
10g.30313802A>GCA376434482MTPAPc.1556T>C (p.Ile519Thr)
n.3311T>C
dbSNP gnomAD v4
10g.30313802A>TCA376434484MTPAPc.1556T>A (p.Ile519Lys)
n.3311T>A
10g.30313803T>ACA5458923MTPAPc.1555A>T (p.Ile519Leu)
n.3310A>T
dbSNP ExAC gnomAD v2 gnomAD v4
10g.30313803T>CCA376434486MTPAPc.1555A>G (p.Ile519Val)
n.3310A>G
10g.30313803T>GCA376434488MTPAPc.1555A>C (p.Ile519Leu)
n.3310A>C
10g.30313803T=CA1899313997MTPAPc.1555A= (p.Ile519=)
n.3310A=
10g.30313804G>ACA468798680MTPAPc.1554C>T (p.Ser518=)
n.3309C>T
dbSNP
10g.30313804G>CCA468798681MTPAPc.1554C>G (p.Ser518=)
n.3309C>G
10g.30313804G=CA1899313998MTPAPc.1554C= (p.Ser518=)
n.3309C=
10g.30313804G>TCA468798682MTPAPc.1554C>A (p.Ser518=)
n.3309C>A
10g.30313804_30313805insAGGCCTCCGGATTTCAGTGTGATTTGACTACGAACAATAGGATTGCCTTGACAAGTTCCGAACTCCTTTATATATATGGTGCCCTAGACTCAAGAGTGAGAGCCTTGGTGTTCAGTCA926395266MTPAPc.1553_1554insACTGAACACCAAGGCTCTCACTCTTGAGTCTAGGGCACCATATATATAAAGGAGTTCGGAACTTGTCAAGGCAATCCTATTGTTCGTAGTCAAATCACACTGAAATCCGGAGGCCT (p.Ile519LeufsTer16)
n.3308_3309insACTGAACACCAAGGCTCTCACTCTTGAGTCTAGGGCACCATATATATAAAGGAGTTCGGAACTTGTCAAGGCAATCCTATTGTTCGTAGTCAAATCACACTGAAATCCGGAGGCCT
gnomAD v3 gnomAD v4
10g.30313805G>ACA5458924MTPAPc.1553C>T (p.Ser518Phe)
n.3308C>T
dbSNP ExAC gnomAD v4
10g.30313805G>CCA376434491MTPAPc.1553C>G (p.Ser518Cys)
n.3308C>G
10g.30313805G=CA1899313999MTPAPc.1553C= (p.Ser518=)
n.3308C=
10g.30313805G>TCA376434492MTPAPc.1553C>A (p.Ser518Tyr)
n.3308C>A
COSMIC COSMIC
10g.30313806A>CCA376434494MTPAPc.1552T>G (p.Ser518Ala)
n.3307T>G
10g.30313806A>GCA376434495MTPAPc.1552T>C (p.Ser518Pro)
n.3307T>C
10g.30313806A>TCA376434496MTPAPc.1552T>A (p.Ser518Thr)
n.3307T>A
10g.30313807A>CCA468798683MTPAPc.1551T>G (p.Pro517=)
n.3306T>G
10g.30313807A>GCA468798684MTPAPc.1551T>C (p.Pro517=)
n.3306T>C
10g.30313807A>TCA468798685MTPAPc.1551T>A (p.Pro517=)
n.3306T>A
10g.30313808G>ACA5458925MTPAPc.1550C>T (p.Pro517Leu)
n.3305C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313808G>CCA376434498MTPAPc.1550C>G (p.Pro517Arg)
n.3305C>G
10g.30313808G=CA1899314000MTPAPc.1550C= (p.Pro517=)
n.3305C=
10g.30313808G>TCA376434497MTPAPc.1550C>A (p.Pro517His)
n.3305C>A
gnomAD v4
10g.30313809G>ACA376434499MTPAPc.1549C>T (p.Pro517Ser)
n.3304C>T
10g.30313809G>CCA376434501MTPAPc.1549C>G (p.Pro517Ala)
n.3304C>G
10g.30313809G>TCA376434502MTPAPc.1549C>A (p.Pro517Thr)
n.3304C>A
10g.30313810T>ACA468798688MTPAPc.1548A>T (p.Arg516=)
n.3303A>T
10g.30313810T>CCA468798687MTPAPc.1548A>G (p.Arg516=)
n.3303A>G
10g.30313810T>GCA468798686MTPAPc.1548A>C (p.Arg516=)
n.3303A>C
dbSNP
10g.30313810T=CA1899314001MTPAPc.1548A= (p.Arg516=)
n.3303A=
10g.30313811C>ACA376434504MTPAPc.1547G>T (p.Arg516Leu)
n.3302G>T
gnomAD v4
10g.30313811C=CA1899314002MTPAPc.1547G= (p.Arg516=)
n.3302G=
10g.30313811C>GCA376434506MTPAPc.1547G>C (p.Arg516Pro)
n.3302G>C
10g.30313811C>TCA5458926MTPAPc.1547G>A (p.Arg516Gln)
n.3302G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313812G>ACA5458927MTPAPc.1546C>T (p.Arg516Ter)
n.3301C>T
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
10g.30313812G>CCA376434509MTPAPc.1546C>G (p.Arg516Gly)
n.3301C>G
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.30313812G=CA1899314003MTPAPc.1546C= (p.Arg516=)
n.3301C=
10g.30313812G>TCA468798689MTPAPc.1546C>A (p.Arg516=)
n.3301C>A
10g.30313813A>CCA376434512MTPAPc.1545T>G (p.Asp515Glu)
n.3300T>G
10g.30313813A>GCA468798690MTPAPc.1545T>C (p.Asp515=)
n.3300T>C
10g.30313813A>TCA376434513MTPAPc.1545T>A (p.Asp515Glu)
n.3300T>A
10g.30313814T>ACA376434516MTPAPc.1544A>T (p.Asp515Val)
n.3299A>T
10g.30313814T>CCA376434518MTPAPc.1544A>G (p.Asp515Gly)
n.3299A>G
10g.30313814T>GCA376434519MTPAPc.1544A>C (p.Asp515Ala)
n.3299A>C
ClinVar dbSNP
10g.30313815C>ACA376434523MTPAPc.1543G>T (p.Asp515Tyr)
n.3298G>T
10g.30313815C>GCA376434525MTPAPc.1543G>C (p.Asp515His)
n.3298G>C
10g.30313815C>TCA376434522MTPAPc.1543G>A (p.Asp515Asn)
n.3298G>A
gnomAD v4
10g.30313816T>ACA468798691MTPAPc.1542A>T (p.Thr514=)
n.3297A>T
10g.30313816T>CCA5458928MTPAPc.1542A>G (p.Thr514=)
n.3297A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313816T>GCA468798692MTPAPc.1542A>C (p.Thr514=)
n.3297A>C
10g.30313816T=CA1899314004MTPAPc.1542A= (p.Thr514=)
n.3297A=
10g.30313817G>ACA376434527MTPAPc.1541C>T (p.Thr514Ile)
n.3296C>T
dbSNP gnomAD v3 gnomAD v4
10g.30313817G>CCA376434528MTPAPc.1541C>G (p.Thr514Arg)
n.3296C>G
10g.30313817G=CA1899314005MTPAPc.1541C= (p.Thr514=)
n.3296C=
10g.30313817G>TCA376434530MTPAPc.1541C>A (p.Thr514Lys)
n.3296C>A
ClinVar
10g.30313818T>ACA376434531MTPAPc.1540A>T (p.Thr514Ser)
n.3295A>T
10g.30313818T>CCA376434532MTPAPc.1540A>G (p.Thr514Ala)
n.3295A>G
dbSNP gnomAD v4
10g.30313818T>GCA376434533MTPAPc.1540A>C (p.Thr514Pro)
n.3295A>C
10g.30313818T=CA1899314006MTPAPc.1540A= (p.Thr514=)
n.3295A=
10g.30313819A=CA1899314007MTPAPc.1539T= (p.Asp513=)
n.3294T=
10g.30313819A>CCA376434536MTPAPc.1539T>G (p.Asp513Glu)
n.3294T>G
10g.30313819A>GCA5458929MTPAPc.1539T>C (p.Asp513=)
n.3294T>C
dbSNP ExAC gnomAD v4
10g.30313819A>TCA376434538MTPAPc.1539T>A (p.Asp513Glu)
n.3294T>A
10g.30313820T>ACA5458930MTPAPc.1538A>T (p.Asp513Val)
n.3293A>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313820T>CCA376434540MTPAPc.1538A>G (p.Asp513Gly)
n.3293A>G
gnomAD v4
10g.30313820T>GCA376434541MTPAPc.1538A>C (p.Asp513Ala)
n.3293A>C
10g.30313820T=CA1899314008MTPAPc.1538A= (p.Asp513=)
n.3293A=
10g.30313821C>ACA376434542MTPAPc.1537G>T (p.Asp513Tyr)
n.3292G>T
10g.30313821C=CA1899314009MTPAPc.1537G= (p.Asp513=)
n.3292G=
10g.30313821C>GCA376434545MTPAPc.1537G>C (p.Asp513His)
n.3292G>C
10g.30313821C>TCA376434543MTPAPc.1537G>A (p.Asp513Asn)
n.3292G>A
dbSNP gnomAD v3 gnomAD v4
10g.30313822T>ACA376434547MTPAPc.1536A>T (p.Glu512Asp)
n.3291A>T
10g.30313822T>CCA468798693MTPAPc.1536A>G (p.Glu512=)
n.3291A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.30313822T>GCA376434549MTPAPc.1536A>C (p.Glu512Asp)
n.3291A>C
10g.30313822T=CA1899314010MTPAPc.1536A= (p.Glu512=)
n.3291A=
10g.30313823T>ACA376434550MTPAPc.1535A>T (p.Glu512Val)
n.3290A>T
10g.30313823T>CCA376434552MTPAPc.1535A>G (p.Glu512Gly)
n.3290A>G
10g.30313823T>GCA376434554MTPAPc.1535A>C (p.Glu512Ala)
n.3290A>C
10g.30313824C>ACA376434556MTPAPc.1534G>T (p.Glu512Ter)
n.3289G>T
10g.30313824C>GCA376434557MTPAPc.1534G>C (p.Glu512Gln)
n.3289G>C
10g.30313824C>TCA376434558MTPAPc.1534G>A (p.Glu512Lys)
n.3289G>A
ClinVar
10g.30313825C>ACA376434559MTPAPc.1533G>T (p.Gln511His)
n.3288G>T
10g.30313825C=CA1899314011MTPAPc.1533G= (p.Gln511=)
n.3288G=
10g.30313825C>GCA5458931MTPAPc.1533G>C (p.Gln511His)
n.3288G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313825C>TCA468798694MTPAPc.1533G>A (p.Gln511=)
n.3288G>A
10g.30313826T>ACA376434562MTPAPc.1532A>T (p.Gln511Leu)
n.3287A>T
10g.30313826T>CCA376434561MTPAPc.1532A>G (p.Gln511Arg)
n.3287A>G
dbSNP gnomAD v2 gnomAD v4
10g.30313826T>GCA376434560MTPAPc.1532A>C (p.Gln511Pro)
n.3287A>C
10g.30313826T=CA1899314012MTPAPc.1532A= (p.Gln511=)
n.3287A=
10g.30313829_30313831delCA2574454113MTPAPc.1530_1532del (p.Gln511del)
n.3285_3287del
10g.30313827G>ACA376434564MTPAPc.1531C>T (p.Gln511Ter)
n.3286C>T
gnomAD v4
10g.30313827G>CCA376434563MTPAPc.1531C>G (p.Gln511Glu)
n.3286C>G
10g.30313827G>TCA376434566MTPAPc.1531C>A (p.Gln511Lys)
n.3286C>A
gnomAD v4
10g.30313828T>ACA376434567MTPAPc.1530A>T (p.Gln510His)
n.3285A>T
10g.30313828T>CCA468798695MTPAPc.1530A>G (p.Gln510=)
n.3285A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.30313828T>GCA376434568MTPAPc.1530A>C (p.Gln510His)
n.3285A>C
10g.30313828T=CA1899314013MTPAPc.1530A= (p.Gln510=)
n.3285A=
10g.30313829T>ACA376434569MTPAPc.1529A>T (p.Gln510Leu)
n.3284A>T
10g.30313829T>CCA376434570MTPAPc.1529A>G (p.Gln510Arg)
n.3284A>G
10g.30313829T>GCA5458932MTPAPc.1529A>C (p.Gln510Pro)
n.3284A>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313829T=CA1899314014MTPAPc.1529A= (p.Gln510=)
n.3284A=
10g.30313830G>ACA376434571MTPAPc.1528C>T (p.Gln510Ter)
n.3283C>T
10g.30313830G>CCA376434572MTPAPc.1528C>G (p.Gln510Glu)
n.3283C>G
10g.30313830G=CA1899314015MTPAPc.1528C= (p.Gln510=)
n.3283C=
10g.30313830G>TCA376434573MTPAPc.1528C>A (p.Gln510Lys)
n.3283C>A
dbSNP
10g.30313831T>ACA376434574MTPAPc.1527A>T (p.Leu509Phe)
n.3282A>T
10g.30313831T>CCA468798696MTPAPc.1527A>G (p.Leu509=)
n.3282A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.30313831T>GCA376434575MTPAPc.1527A>C (p.Leu509Phe)
n.3282A>C
10g.30313831T=CA1899314016MTPAPc.1527A= (p.Leu509=)
n.3282A=
10g.30313832A>CCA376434576MTPAPc.1526T>G (p.Leu509Ter)
n.3281T>G
10g.30313832A>GCA376434577MTPAPc.1526T>C (p.Leu509Ser)
n.3281T>C
10g.30313832A>TCA376434578MTPAPc.1526T>A (p.Leu509Ter)
n.3281T>A
10g.30313833A>CCA376434579MTPAPc.1525T>G (p.Leu509Val)
n.3280T>G
10g.30313833A>GCA468798697MTPAPc.1525T>C (p.Leu509=)
n.3280T>C
10g.30313833A>TCA376434580MTPAPc.1525T>A (p.Leu509Ile)
n.3280T>A
10g.30313834A>CCA376434581MTPAPc.1524T>G (p.Ile508Met)
n.3279T>G
10g.30313834A>GCA468798698MTPAPc.1524T>C (p.Ile508=)
n.3279T>C
10g.30313834A>TCA468798699MTPAPc.1524T>A (p.Ile508=)
n.3279T>A
10g.30313835A>CCA376434584MTPAPc.1523T>G (p.Ile508Ser)
n.3278T>G
10g.30313835A>GCA376434583MTPAPc.1523T>C (p.Ile508Thr)
n.3278T>C
10g.30313835A>TCA376434582MTPAPc.1523T>A (p.Ile508Asn)
n.3278T>A
10g.30313836T>ACA376434585MTPAPc.1522A>T (p.Ile508Phe)
n.3277A>T
10g.30313836T>CCA376434586MTPAPc.1522A>G (p.Ile508Val)
n.3277A>G
10g.30313836T>GCA376434587MTPAPc.1522A>C (p.Ile508Leu)
n.3277A>C
10g.30313837C>ACA376434588MTPAPc.1521G>T (p.Trp507Cys)
n.3276G>T
10g.30313837C>GCA376434589MTPAPc.1521G>C (p.Trp507Cys)
n.3276G>C
10g.30313837C>TCA376434590MTPAPc.1521G>A (p.Trp507Ter)
n.3276G>A
10g.30313838C>ACA376434591MTPAPc.1520G>T (p.Trp507Leu)
n.3275G>T
10g.30313838C>GCA376434592MTPAPc.1520G>C (p.Trp507Ser)
n.3275G>C
10g.30313838C>TCA376434593MTPAPc.1520G>A (p.Trp507Ter)
n.3275G>A
10g.30313839A=CA1899314017MTPAPc.1519T= (p.Trp507=)
n.3274T=
10g.30313839A>CCA376434594MTPAPc.1519T>G (p.Trp507Gly)
n.3274T>G
10g.30313839A>GCA376434595MTPAPc.1519T>C (p.Trp507Arg)
n.3274T>C
10g.30313839A>TCA5458933MTPAPc.1519T>A (p.Trp507Arg)
n.3274T>A
dbSNP ExAC gnomAD v2 gnomAD v4
10g.30313840G>ACA468798700MTPAPc.1518C>T (p.Ala506=)
n.3273C>T
gnomAD v4
10g.30313840G>CCA468798701MTPAPc.1518C>G (p.Ala506=)
n.3273C>G
10g.30313840G>TCA468798702MTPAPc.1518C>A (p.Ala506=)
n.3273C>A
10g.30313841G>ACA376434598MTPAPc.1517C>T (p.Ala506Val)
n.3272C>T
10g.30313841G>CCA376434597MTPAPc.1517C>G (p.Ala506Gly)
n.3272C>G
10g.30313841G>TCA376434596MTPAPc.1517C>A (p.Ala506Asp)
n.3272C>A
10g.30313842C>ACA376434599MTPAPc.1516G>T (p.Ala506Ser)
n.3271G>T
dbSNP gnomAD v2 gnomAD v4
10g.30313842C=CA1899314018MTPAPc.1516G= (p.Ala506=)
n.3271G=
10g.30313842C>GCA376434600MTPAPc.1516G>C (p.Ala506Pro)
n.3271G>C
10g.30313842C>TCA376434601MTPAPc.1516G>A (p.Ala506Thr)
n.3271G>A
10g.30313843A>CCA376434602MTPAPc.1515T>G (p.Ser505Arg)
n.3270T>G
10g.30313843A>GCA468798703MTPAPc.1515T>C (p.Ser505=)
n.3270T>C
10g.30313843A>TCA376434603MTPAPc.1515T>A (p.Ser505Arg)
n.3270T>A
10g.30313844C>ACA376434604MTPAPc.1514G>T (p.Ser505Ile)
n.3269G>T
10g.30313844C>GCA376434605MTPAPc.1514G>C (p.Ser505Thr)
n.3269G>C
10g.30313844C>TCA376434606MTPAPc.1514G>A (p.Ser505Asn)
n.3269G>A
gnomAD v4
10g.30313845T>ACA376434607MTPAPc.1513A>T (p.Ser505Cys)
n.3268A>T
10g.30313845T>CCA376434608MTPAPc.1513A>G (p.Ser505Gly)
n.3268A>G
10g.30313845T>GCA376434609MTPAPc.1513A>C (p.Ser505Arg)
n.3268A>C
10g.30313846T>ACA376434610MTPAPc.1512A>T (p.Glu504Asp)
n.3267A>T
10g.30313846T>CCA468798704MTPAPc.1512A>G (p.Glu504=)
n.3267A>G
10g.30313846T>GCA376434611MTPAPc.1512A>C (p.Glu504Asp)
n.3267A>C
10g.30313847T>ACA376434613MTPAPc.1511A>T (p.Glu504Val)
n.3266A>T
10g.30313847T>CCA5458934MTPAPc.1511A>G (p.Glu504Gly)
n.3266A>G
dbSNP ExAC gnomAD v2
10g.30313847T>GCA376434612MTPAPc.1511A>C (p.Glu504Ala)
n.3266A>C
gnomAD v4
10g.30313847T=CA1899314019MTPAPc.1511A= (p.Glu504=)
n.3266A=
10g.30313848C>ACA376434614MTPAPc.1510G>T (p.Glu504Ter)
n.3265G>T
10g.30313848C>GCA376434615MTPAPc.1510G>C (p.Glu504Gln)
n.3265G>C
10g.30313848C>TCA376434616MTPAPc.1510G>A (p.Glu504Lys)
n.3265G>A
10g.30313849T>ACA468798705MTPAPc.1509A>T (p.Arg503=)
n.3264A>T
dbSNP gnomAD v3 gnomAD v4
10g.30313849T>CCA468798706MTPAPc.1509A>G (p.Arg503=)
n.3264A>G
10g.30313849T>GCA468798707MTPAPc.1509A>C (p.Arg503=)
n.3264A>C
10g.30313849T=CA1899314020MTPAPc.1509A= (p.Arg503=)
n.3264A=
10g.30313850C>ACA205300991MTPAPc.1508G>T (p.Arg503Leu)
n.3263G>T
dbSNP gnomAD v3 gnomAD v4
10g.30313850C=CA1899314021MTPAPc.1508G= (p.Arg503=)
n.3263G=
10g.30313850C>GCA376434617MTPAPc.1508G>C (p.Arg503Pro)
n.3263G>C
10g.30313850C>TCA5458935MTPAPc.1508G>A (p.Arg503Gln)
n.3263G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.30313851G>ACA5458936MTPAPc.1507C>T (p.Arg503Ter)
n.3262C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.30313851G>CCA376434618MTPAPc.1507C>G (p.Arg503Gly)
n.3262C>G
10g.30313851G=CA1899314022MTPAPc.1507C= (p.Arg503=)
n.3262C=
10g.30313851G>TCA468798708MTPAPc.1507C>A (p.Arg503=)
n.3262C>A
10g.30313852G>ACA468798711MTPAPc.1506C>T (p.Ala502=)
n.3261C>T
dbSNP
10g.30313852G>CCA468798710MTPAPc.1506C>G (p.Ala502=)
n.3261C>G
10g.30313852G=CA1899314023MTPAPc.1506C= (p.Ala502=)
n.3261C=
10g.30313852G>TCA468798709MTPAPc.1506C>A (p.Ala502=)
n.3261C>A
10g.30313853G>ACA205301019MTPAPc.1505C>T (p.Ala502Val)
n.3260C>T
dbSNP gnomAD v4 COSMIC COSMIC
10g.30313853G>CCA376434619MTPAPc.1505C>G (p.Ala502Gly)
n.3260C>G
10g.30313853G=CA1899314024MTPAPc.1505C= (p.Ala502=)
n.3260C=
10g.30313853G>TCA376434620MTPAPc.1505C>A (p.Ala502Asp)
n.3260C>A
10g.30313854C>ACA5458937MTPAPc.1504G>T (p.Ala502Ser)
n.3259G>T
dbSNP ExAC gnomAD v2 gnomAD v4
10g.30313854C=CA1899314025MTPAPc.1504G= (p.Ala502=)
n.3259G=
10g.30313854C>GCA376434622MTPAPc.1504G>C (p.Ala502Pro)
n.3259G>C
gnomAD v4
10g.30313854C>TCA376434621MTPAPc.1504G>A (p.Ala502Thr)
n.3259G>A
10g.30313855C>ACA376434623MTPAPc.1503G>T (p.Leu501Phe)
n.3258G>T
10g.30313855C>GCA376434624MTPAPc.1503G>C (p.Leu501Phe)
n.3258G>C
10g.30313855C>TCA468798712MTPAPc.1503G>A (p.Leu501=)
n.3258G>A
10g.30313856A=CA1899314026MTPAPc.1502T= (p.Leu501=)
n.3257T=
10g.30313856A>CCA376434625MTPAPc.1502T>G (p.Leu501Trp)
n.3257T>G
dbSNP gnomAD v2 gnomAD v4
10g.30313856A>GCA376434626MTPAPc.1502T>C (p.Leu501Ser)
n.3257T>C
10g.30313856A>TCA376434627MTPAPc.1502T>A (p.Leu501Ter)
n.3257T>A
10g.30313857A>CCA376434628MTPAPc.1501T>G (p.Leu501Val)
n.3256T>G
10g.30313857A>GCA468798713MTPAPc.1501T>C (p.Leu501=)
n.3256T>C
10g.30313857A>TCA376434629MTPAPc.1501T>A (p.Leu501Met)
n.3256T>A
10g.30313858A>CCA376434630MTPAPc.1500T>G (p.Asp500Glu)
n.3255T>G
10g.30313858A>GCA468798714MTPAPc.1500T>C (p.Asp500=)
n.3255T>C
10g.30313858A>TCA376434631MTPAPc.1500T>A (p.Asp500Glu)
n.3255T>A
10g.30313859T>ACA376434632MTPAPc.1499A>T (p.Asp500Val)
n.3254A>T
10g.30313859T>CCA376434633MTPAPc.1499A>G (p.Asp500Gly)
n.3254A>G
10g.30313859T>GCA376434634MTPAPc.1499A>C (p.Asp500Ala)
n.3254A>C
10g.30313860C>ACA376434635MTPAPc.1498G>T (p.Asp500Tyr)
n.3253G>T
dbSNP
10g.30313860C=CA1899314027MTPAPc.1498G= (p.Asp500=)
n.3253G=
10g.30313860C>GCA376434636MTPAPc.1498G>C (p.Asp500His)
n.3253G>C
10g.30313860C>TCA5458938MTPAPc.1498G>A (p.Asp500Asn)
n.3253G>A
dbSNP ExAC gnomAD v2 gnomAD v4
10g.30313861T>ACA468798715MTPAPc.1497A>T (p.Val499=)
n.3252A>T
10g.30313861T>CCA468798716MTPAPc.1497A>G (p.Val499=)
n.3252A>G
10g.30313861T>GCA468798717MTPAPc.1497A>C (p.Val499=)
n.3252A>C
10g.30313862A>CCA376434637MTPAPc.1496T>G (p.Val499Gly)
n.3251T>G
10g.30313862A>GCA376434639MTPAPc.1496T>C (p.Val499Ala)
n.3251T>C
10g.30313862A>TCA376434638MTPAPc.1496T>A (p.Val499Glu)
n.3251T>A
10g.30313863C>ACA376434640MTPAPc.1495G>T (p.Val499Leu)
n.3250G>T
10g.30313863C>GCA376434641MTPAPc.1495G>C (p.Val499Leu)
n.3250G>C
gnomAD v4
10g.30313863C>TCA376434642MTPAPc.1495G>A (p.Val499Ile)
n.3250G>A
10g.30313864A>CCA376434643MTPAPc.1494T>G (p.Phe498Leu)
n.3249T>G
10g.30313864A>GCA468798718MTPAPc.1494T>C (p.Phe498=)
n.3249T>C
10g.30313864A>TCA376434644MTPAPc.1494T>A (p.Phe498Leu)
n.3249T>A
10g.30313865A>CCA376434645MTPAPc.1493T>G (p.Phe498Cys)
n.3248T>G
ClinVar gnomAD v4 COSMIC COSMIC
10g.30313865A>GCA376434646MTPAPc.1493T>C (p.Phe498Ser)
n.3248T>C
gnomAD v4
10g.30313865A>TCA376434647MTPAPc.1493T>A (p.Phe498Tyr)
n.3248T>A
10g.30313866A>CCA376434648MTPAPc.1492T>G (p.Phe498Val)
n.3247T>G
10g.30313866A>GCA376434649MTPAPc.1492T>C (p.Phe498Leu)
n.3247T>C
10g.30313866A>TCA376434650MTPAPc.1492T>A (p.Phe498Ile)
n.3247T>A
10g.30313867T>ACA376434651MTPAPc.1491A>T (p.Lys497Asn)
n.3246A>T
10g.30313867T>CCA468798719MTPAPc.1491A>G (p.Lys497=)
n.3246A>G
10g.30313867T>GCA205301029MTPAPc.1491A>C (p.Lys497Asn)
n.3246A>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.30313867T=CA1899314028MTPAPc.1491A= (p.Lys497=)
n.3246A=
10g.30313871delCA645544917MTPAPc.1491del (p.Lys497AsnfsTer3)
n.3246del
COSMIC COSMIC
10g.30313868T>ACA376434652MTPAPc.1490A>T (p.Lys497Ile)
n.3245A>T
10g.30313868T>CCA376434653MTPAPc.1490A>G (p.Lys497Arg)
n.3245A>G
10g.30313868T>GCA376434654MTPAPc.1490A>C (p.Lys497Thr)
n.3245A>C
10g.30313869T>ACA376434655MTPAPc.1489A>T (p.Lys497Ter)
n.3244A>T
10g.30313869T>CCA376434656MTPAPc.1489A>G (p.Lys497Glu)
n.3244A>G
10g.30313869T>GCA376434657MTPAPc.1489A>C (p.Lys497Gln)
n.3244A>C
10g.30313870T>ACA376434658MTPAPc.1488A>T (p.Gln496His)
n.3243A>T
10g.30313870T>CCA468798720MTPAPc.1488A>G (p.Gln496=)
n.3243A>G
10g.30313870T>GCA376434659MTPAPc.1488A>C (p.Gln496His)
n.3243A>C
10g.30313871T>ACA376434660MTPAPc.1487A>T (p.Gln496Leu)
n.3242A>T
10g.30313871T>CCA376434661MTPAPc.1487A>G (p.Gln496Arg)
n.3242A>G
10g.30313871T>GCA376434662MTPAPc.1487A>C (p.Gln496Pro)
n.3242A>C
10g.30313872G>ACA205301030MTPAPc.1486C>T (p.Gln496Ter)
n.3241C>T
dbSNP gnomAD v2 gnomAD v4
10g.30313872G>CCA376434663MTPAPc.1486C>G (p.Gln496Glu)
n.3241C>G
gnomAD v4
10g.30313872G=CA1899314029MTPAPc.1486C= (p.Gln496=)
n.3241C=
10g.30313872G>TCA376434664MTPAPc.1486C>A (p.Gln496Lys)
n.3241C>A
10g.30313873C>ACA468798721MTPAPc.1485G>T (p.Leu495=)
n.3240G>T
10g.30313873C=CA1899314030MTPAPc.1485G= (p.Leu495=)
n.3240G=
10g.30313873C>GCA468798722MTPAPc.1485G>C (p.Leu495=)
n.3240G>C
10g.30313873C>TCA5458939MTPAPc.1485G>A (p.Leu495=)
n.3240G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313874A=CA1899314031MTPAPc.1484T= (p.Leu495=)
n.3239T=
10g.30313874A>CCA376434665MTPAPc.1484T>G (p.Leu495Arg)
n.3239T>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.30313874A>GCA376434666MTPAPc.1484T>C (p.Leu495Pro)
n.3239T>C
10g.30313874A>TCA376434667MTPAPc.1484T>A (p.Leu495Gln)
n.3239T>A
10g.30313875G>ACA468798723MTPAPc.1483C>T (p.Leu495=)
n.3238C>T
10g.30313875G>CCA376434668MTPAPc.1483C>G (p.Leu495Val)
n.3238C>G
10g.30313875G>TCA376434669MTPAPc.1483C>A (p.Leu495Met)
n.3238C>A
10g.30313876C>ACA376434670MTPAPc.1482G>T (p.Gln494His)
n.3237G>T
10g.30313876C>GCA376434671MTPAPc.1482G>C (p.Gln494His)
n.3237G>C
gnomAD v4
10g.30313876C>TCA468798724MTPAPc.1482G>A (p.Gln494=)
n.3237G>A
10g.30313877T>ACA376434672MTPAPc.1481A>T (p.Gln494Leu)
n.3236A>T
10g.30313877T>CCA376434673MTPAPc.1481A>G (p.Gln494Arg)
n.3236A>G
10g.30313877T>GCA376434674MTPAPc.1481A>C (p.Gln494Pro)
n.3236A>C
10g.30313878G>ACA376434675MTPAPc.1480C>T (p.Gln494Ter)
n.3235C>T
10g.30313878G>CCA376434676MTPAPc.1480C>G (p.Gln494Glu)
n.3235C>G
10g.30313878G>TCA376434677MTPAPc.1480C>A (p.Gln494Lys)
n.3235C>A
10g.30313879G>ACA5458940MTPAPc.1479C>T (p.Ser493=)
n.3234C>T
dbSNP ExAC gnomAD v2 gnomAD v4
10g.30313879G>CCA376434679MTPAPc.1479C>G (p.Ser493Arg)
n.3234C>G
10g.30313879G=CA1899314032MTPAPc.1479C= (p.Ser493=)
n.3234C=
10g.30313879G>TCA376434678MTPAPc.1479C>A (p.Ser493Arg)
n.3234C>A
gnomAD v4
10g.30313880C>ACA376434680MTPAPc.1478G>T (p.Ser493Ile)
n.3233G>T
ClinVar
10g.30313880C=CA1899314033MTPAPc.1478G= (p.Ser493=)
n.3233G=
10g.30313880C>GCA376434681MTPAPc.1478G>C (p.Ser493Thr)
n.3233G>C
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.30313880C>TCA376434682MTPAPc.1478G>A (p.Ser493Asn)
n.3233G>A
dbSNP gnomAD v4
10g.30313881T>ACA376434683MTPAPc.1477A>T (p.Ser493Cys)
n.3232A>T
10g.30313881T>CCA376434684MTPAPc.1477A>G (p.Ser493Gly)
n.3232A>G
10g.30313881T>GCA376434685MTPAPc.1477A>C (p.Ser493Arg)
n.3232A>C
10g.30313882T>ACA376434686MTPAPc.1476A>T (p.Gln492His)
n.3231A>T
dbSNP
10g.30313882T>CCA468798729MTPAPc.1476A>G (p.Gln492=)
n.3231A>G
10g.30313882T>GCA376434687MTPAPc.1476A>C (p.Gln492His)
n.3231A>C
10g.30313882T=CA1899314034MTPAPc.1476A= (p.Gln492=)
n.3231A=
10g.30313883T>ACA376434688MTPAPc.1475A>T (p.Gln492Leu)
n.3230A>T
10g.30313883T>CCA376434689MTPAPc.1475A>G (p.Gln492Arg)
n.3230A>G
10g.30313883T>GCA376434690MTPAPc.1475A>C (p.Gln492Pro)
n.3230A>C
10g.30313884G>ACA376434691MTPAPc.1474C>T (p.Gln492Ter)
n.3229C>T
10g.30313884G>CCA376434692MTPAPc.1474C>G (p.Gln492Glu)
n.3229C>G
10g.30313884G>TCA376434693MTPAPc.1474C>A (p.Gln492Lys)
n.3229C>A
gnomAD v4
10g.30313885A=CA1899314035MTPAPc.1473T= (p.Ser491=)
n.3228T=
10g.30313885A>CCA376434695MTPAPc.1473T>G (p.Ser491Arg)
n.3228T>G
10g.30313885A>GCA5458941MTPAPc.1473T>C (p.Ser491=)
n.3228T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313885A>TCA376434694MTPAPc.1473T>A (p.Ser491Arg)
n.3228T>A
10g.30313886C>ACA376434696MTPAPc.1472G>T (p.Ser491Ile)
n.3227G>T
10g.30313886C>GCA376434697MTPAPc.1472G>C (p.Ser491Thr)
n.3227G>C
10g.30313886C>TCA376434698MTPAPc.1472G>A (p.Ser491Asn)
n.3227G>A
COSMIC COSMIC
10g.30313887T>ACA376434699MTPAPc.1471A>T (p.Ser491Cys)
n.3226A>T
10g.30313887T>CCA376434700MTPAPc.1471A>G (p.Ser491Gly)
n.3226A>G
10g.30313887T>GCA376434701MTPAPc.1471A>C (p.Ser491Arg)
n.3226A>C
10g.30313888T>ACA468798750MTPAPc.1470A>T (p.Val490=)
n.3225A>T
10g.30313888T>CCA468798752MTPAPc.1470A>G (p.Val490=)
n.3225A>G
gnomAD v4
10g.30313888T>GCA468798754MTPAPc.1470A>C (p.Val490=)
n.3225A>C
10g.30313889A>CCA376434702MTPAPc.1469T>G (p.Val490Gly)
n.3224T>G
10g.30313889A>GCA376434703MTPAPc.1469T>C (p.Val490Ala)
n.3224T>C
10g.30313889A>TCA376434704MTPAPc.1469T>A (p.Val490Glu)
n.3224T>A
10g.30313890C>ACA16043676MTPAPc.1468G>T (p.Val490Leu)
n.3223G>T
ClinVar dbSNP
10g.30313890C=CA1899314036MTPAPc.1468G= (p.Val490=)
n.3223G=
10g.30313890C>GCA376434705MTPAPc.1468G>C (p.Val490Leu)
n.3223G>C
10g.30313890C>TCA376434706MTPAPc.1468G>A (p.Val490Ile)
n.3223G>A
ClinVar dbSNP gnomAD v4
10g.30313891A>CCA376434707MTPAPc.1467T>G (p.Asn489Lys)
n.3222T>G
10g.30313891A>GCA468798765MTPAPc.1467T>C (p.Asn489=)
n.3222T>C
10g.30313891A>TCA376434708MTPAPc.1467T>A (p.Asn489Lys)
n.3222T>A
10g.30313892T>ACA376434710MTPAPc.1466A>T (p.Asn489Ile)
n.3221A>T
10g.30313892T>CCA376434711MTPAPc.1466A>G (p.Asn489Ser)
n.3221A>G
10g.30313892T>GCA376434709MTPAPc.1466A>C (p.Asn489Thr)
n.3221A>C
10g.30313893T>ACA376434712MTPAPc.1465A>T (p.Asn489Tyr)
n.3220A>T
10g.30313893T>CCA376434713MTPAPc.1465A>G (p.Asn489Asp)
n.3220A>G
10g.30313893T>GCA376434714MTPAPc.1465A>C (p.Asn489His)
n.3220A>C

Number of alleles fetched