Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
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
10g.30313894T>ACA376434715MTPAPc.1464A>T (p.Lys488Asn)
n.3219A>T
10g.30313894T>CCA468798779MTPAPc.1464A>G (p.Lys488=)
n.3219A>G
10g.30313894T>GCA376434716MTPAPc.1464A>C (p.Lys488Asn)
n.3219A>C
ClinVar dbSNP gnomAD v2
10g.30313894T=CA1899314037MTPAPc.1464A= (p.Lys488=)
n.3219A=
10g.30313895T>ACA376434717MTPAPc.1463A>T (p.Lys488Ile)
n.3218A>T
10g.30313895T>CCA376434718MTPAPc.1463A>G (p.Lys488Arg)
n.3218A>G
10g.30313895T>GCA376434719MTPAPc.1463A>C (p.Lys488Thr)
n.3218A>C
10g.30313896T>ACA376434720MTPAPc.1462A>T (p.Lys488Ter)
n.3217A>T
10g.30313896T>CCA376434721MTPAPc.1462A>G (p.Lys488Glu)
n.3217A>G
10g.30313896T>GCA376434722MTPAPc.1462A>C (p.Lys488Gln)
n.3217A>C
10g.30313897G>ACA468798791MTPAPc.1461C>T (p.Ser487=)
n.3216C>T
10g.30313897G>CCA376434723MTPAPc.1461C>G (p.Ser487Arg)
n.3216C>G
10g.30313897G>TCA376434724MTPAPc.1461C>A (p.Ser487Arg)
n.3216C>A
10g.30313898C>ACA376434727MTPAPc.1460G>T (p.Ser487Ile)
n.3215G>T
10g.30313898C>GCA376434725MTPAPc.1460G>C (p.Ser487Thr)
n.3215G>C
10g.30313898C>TCA376434726MTPAPc.1460G>A (p.Ser487Asn)
n.3215G>A
gnomAD v4
10g.30313899T>ACA376434728MTPAPc.1459A>T (p.Ser487Cys)
n.3214A>T
dbSNP gnomAD v3 gnomAD v4
10g.30313899T>CCA376434729MTPAPc.1459A>G (p.Ser487Gly)
n.3214A>G
10g.30313899T>GCA376434730MTPAPc.1459A>C (p.Ser487Arg)
n.3214A>C
10g.30313899T=CA1899314038MTPAPc.1459A= (p.Ser487=)
n.3214A=
10g.30313900T>ACA468798806MTPAPc.1458A>T (p.Ile486=)
n.3213A>T
10g.30313900T>CCA376434731MTPAPc.1458A>G (p.Ile486Met)
n.3213A>G
10g.30313900T>GCA468798804MTPAPc.1458A>C (p.Ile486=)
n.3213A>C
10g.30313901A>CCA376434732MTPAPc.1457T>G (p.Ile486Arg)
n.3212T>G
10g.30313901A>GCA376434733MTPAPc.1457T>C (p.Ile486Thr)
n.3212T>C
10g.30313901A>TCA376434734MTPAPc.1457T>A (p.Ile486Lys)
n.3212T>A
10g.30313902T>ACA376434735MTPAPc.1456A>T (p.Ile486Leu)
n.3211A>T
10g.30313902T>CCA376434736MTPAPc.1456A>G (p.Ile486Val)
n.3211A>G
10g.30313902T>GCA376434737MTPAPc.1456A>C (p.Ile486Leu)
n.3211A>C
10g.30313903delCA2787135262MTPAPc.1455del (p.Asn485LysfsTer2)
n.3210del
10g.30313903G>ACA468798816MTPAPc.1455C>T (p.Asn485=)
n.3210C>T
10g.30313903G>CCA376434738MTPAPc.1455C>G (p.Asn485Lys)
n.3210C>G
10g.30313903G>TCA376434739MTPAPc.1455C>A (p.Asn485Lys)
n.3210C>A
10g.30313904T>ACA376434740MTPAPc.1454A>T (p.Asn485Ile)
n.3209A>T
10g.30313904T>CCA376434742MTPAPc.1454A>G (p.Asn485Ser)
n.3209A>G
10g.30313904T>GCA376434741MTPAPc.1454A>C (p.Asn485Thr)
n.3209A>C
10g.30313905T>ACA376434743MTPAPc.1453A>T (p.Asn485Tyr)
n.3208A>T
10g.30313905T>CCA376434745MTPAPc.1453A>G (p.Asn485Asp)
n.3208A>G
10g.30313905T>GCA376434744MTPAPc.1453A>C (p.Asn485His)
n.3208A>C
10g.30313906G>ACA468798833MTPAPc.1452C>T (p.Leu484=)
n.3207C>T
gnomAD v4
10g.30313906G>CCA468798831MTPAPc.1452C>G (p.Leu484=)
n.3207C>G
10g.30313906G>TCA468798829MTPAPc.1452C>A (p.Leu484=)
n.3207C>A
10g.30313910_30313911delCA2608695884MTPAPc.1451_1452del (p.Leu484GlnfsTer?)
n.3206_3207del
gnomAD v4
10g.30313907A>CCA376434746MTPAPc.1451T>G (p.Leu484Arg)
n.3206T>G
10g.30313907A>GCA376434747MTPAPc.1451T>C (p.Leu484Pro)
n.3206T>C
10g.30313907A>TCA376434748MTPAPc.1451T>A (p.Leu484His)
n.3206T>A
10g.30313908G>ACA376434749MTPAPc.1450C>T (p.Leu484Phe)
n.3205C>T
gnomAD v4
10g.30313908G>CCA205301032MTPAPc.1450C>G (p.Leu484Val)
n.3205C>G
dbSNP gnomAD v3 gnomAD v4
10g.30313908G=CA1899314039MTPAPc.1450C= (p.Leu484=)
n.3205C=
10g.30313908G>TCA376434750MTPAPc.1450C>A (p.Leu484Ile)
n.3205C>A
10g.30313909A>CCA468798844MTPAPc.1449T>G (p.Ser483=)
n.3204T>G
10g.30313909A>GCA468798845MTPAPc.1449T>C (p.Ser483=)
n.3204T>C
10g.30313909A>TCA468798847MTPAPc.1449T>A (p.Ser483=)
n.3204T>A
10g.30313910G>ACA376434751MTPAPc.1448C>T (p.Ser483Phe)
n.3203C>T
COSMIC COSMIC
10g.30313910G>CCA376434752MTPAPc.1448C>G (p.Ser483Cys)
n.3203C>G
10g.30313910G>TCA376434753MTPAPc.1448C>A (p.Ser483Tyr)
n.3203C>A
10g.30313911A>CCA376434754MTPAPc.1447T>G (p.Ser483Ala)
n.3202T>G
10g.30313911A>GCA376434755MTPAPc.1447T>C (p.Ser483Pro)
n.3202T>C
10g.30313911A>TCA376434756MTPAPc.1447T>A (p.Ser483Thr)
n.3202T>A
10g.30313912A=CA1899314040MTPAPc.1446T= (p.Thr482=)
n.3201T=
10g.30313912A>CCA468798858MTPAPc.1446T>G (p.Thr482=)
n.3201T>G
dbSNP gnomAD v2 gnomAD v4
10g.30313912A>GCA468798860MTPAPc.1446T>C (p.Thr482=)
n.3201T>C
10g.30313912A>TCA468798862MTPAPc.1446T>A (p.Thr482=)
n.3201T>A
ClinVar dbSNP gnomAD v4
10g.30313913G>ACA5458942MTPAPc.1445C>T (p.Thr482Ile)
n.3200C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.30313913G>CCA376434757MTPAPc.1445C>G (p.Thr482Ser)
n.3200C>G
10g.30313913G=CA1899314041MTPAPc.1445C= (p.Thr482=)
n.3200C=
10g.30313913G>TCA376434758MTPAPc.1445C>A (p.Thr482Asn)
n.3200C>A
10g.30313914T>ACA376434759MTPAPc.1444A>T (p.Thr482Ser)
n.3199A>T
10g.30313914T>CCA376434760MTPAPc.1444A>G (p.Thr482Ala)
n.3199A>G
10g.30313914T>GCA376434761MTPAPc.1444A>C (p.Thr482Pro)
n.3199A>C
10g.30313915T>ACA376434762MTPAPc.1443A>T (p.Glu481Asp)
n.3198A>T
10g.30313915T>CCA468798872MTPAPc.1443A>G (p.Glu481=)
n.3198A>G
10g.30313915T>GCA376434763MTPAPc.1443A>C (p.Glu481Asp)
n.3198A>C
10g.30313916T>ACA376434764MTPAPc.1442A>T (p.Glu481Val)
n.3197A>T
10g.30313916T>CCA376434765MTPAPc.1442A>G (p.Glu481Gly)
n.3197A>G
10g.30313916T>GCA376434766MTPAPc.1442A>C (p.Glu481Ala)
n.3197A>C
10g.30313917C>ACA376434767MTPAPc.1441G>T (p.Glu481Ter)
n.3196G>T
10g.30313917C>GCA376434768MTPAPc.1441G>C (p.Glu481Gln)
n.3196G>C
10g.30313917C>TCA376434769MTPAPc.1441G>A (p.Glu481Lys)
n.3196G>A
10g.30313918A>CCA376434771MTPAPc.1440T>G (p.Phe480Leu)
n.3195T>G
10g.30313918A>GCA468798885MTPAPc.1440T>C (p.Phe480=)
n.3195T>C
10g.30313918A>TCA376434770MTPAPc.1440T>A (p.Phe480Leu)
n.3195T>A
10g.30313919A>CCA376434772MTPAPc.1439T>G (p.Phe480Cys)
n.3194T>G
10g.30313919A>GCA376434773MTPAPc.1439T>C (p.Phe480Ser)
n.3194T>C
10g.30313919A>TCA376434774MTPAPc.1439T>A (p.Phe480Tyr)
n.3194T>A
10g.30313920A>CCA376434775MTPAPc.1438T>G (p.Phe480Val)
n.3193T>G
10g.30313920A>GCA376434776MTPAPc.1438T>C (p.Phe480Leu)
n.3193T>C
10g.30313920A>TCA376434777MTPAPc.1438T>A (p.Phe480Ile)
n.3193T>A
10g.30313921T>ACA468798897MTPAPc.1437A>T (p.Pro479=)
n.3192A>T
10g.30313921T>CCA468798895MTPAPc.1437A>G (p.Pro479=)
n.3192A>G
10g.30313921T>GCA468798893MTPAPc.1437A>C (p.Pro479=)
n.3192A>C
10g.30313922G>ACA376434780MTPAPc.1436C>T (p.Pro479Leu)
n.3191C>T
10g.30313922G>CCA376434778MTPAPc.1436C>G (p.Pro479Arg)
n.3191C>G
10g.30313922G>TCA376434779MTPAPc.1436C>A (p.Pro479Gln)
n.3191C>A
10g.30313923G>ACA376434781MTPAPc.1435C>T (p.Pro479Ser)
n.3190C>T
COSMIC COSMIC
10g.30313923G>CCA376434782MTPAPc.1435C>G (p.Pro479Ala)
n.3190C>G
10g.30313923G>TCA376434783MTPAPc.1435C>A (p.Pro479Thr)
n.3190C>A
10g.30313924A>CCA376434784MTPAPc.1434T>G (p.Asn478Lys)
n.3189T>G
10g.30313924A>GCA468798908MTPAPc.1434T>C (p.Asn478=)
n.3189T>C
10g.30313924A>TCA376434785MTPAPc.1434T>A (p.Asn478Lys)
n.3189T>A
10g.30313925T>ACA376434786MTPAPc.1433A>T (p.Asn478Ile)
n.3188A>T
10g.30313925T>CCA376434788MTPAPc.1433A>G (p.Asn478Ser)
n.3188A>G
10g.30313925T>GCA376434787MTPAPc.1433A>C (p.Asn478Thr)
n.3188A>C
10g.30313926T>ACA376434789MTPAPc.1432A>T (p.Asn478Tyr)
n.3187A>T
dbSNP gnomAD v4
10g.30313926T>CCA113782MTPAPc.1432A>G (p.Asn478Asp)
n.3187A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.30313926T>GCA376434790MTPAPc.1432A>C (p.Asn478His)
n.3187A>C
10g.30313926T=CA1899314042MTPAPc.1432A= (p.Asn478=)
n.3187A=
10g.30313927C>ACA376434791MTPAPc.1431G>T (p.Gln477His)
n.3186G>T
10g.30313927C>GCA376434792MTPAPc.1431G>C (p.Gln477His)
n.3186G>C
10g.30313927C>TCA468798922MTPAPc.1431G>A (p.Gln477=)
n.3186G>A
10g.30313928T>ACA376434793MTPAPc.1430A>T (p.Gln477Leu)
n.3185A>T
10g.30313928T>CCA205301046MTPAPc.1430A>G (p.Gln477Arg)
n.3185A>G
dbSNP
10g.30313928T>GCA5458943MTPAPc.1430A>C (p.Gln477Pro)
n.3185A>C
dbSNP ExAC gnomAD v2
10g.30313928T=CA1899314043MTPAPc.1430A= (p.Gln477=)
n.3185A=
10g.30313929G>ACA376434794MTPAPc.1429C>T (p.Gln477Ter)
n.3184C>T
10g.30313929G>CCA205301061MTPAPc.1429C>G (p.Gln477Glu)
n.3184C>G
dbSNP gnomAD v4
10g.30313929G=CA1899314044MTPAPc.1429C= (p.Gln477=)
n.3184C=
10g.30313929G>TCA376434795MTPAPc.1429C>A (p.Gln477Lys)
n.3184C>A
10g.30313930A>CCA376434796MTPAPc.1428T>G (p.Ile476Met)
n.3183T>G
10g.30313930A>GCA468798936MTPAPc.1428T>C (p.Ile476=)
n.3183T>C
10g.30313930A>TCA468798938MTPAPc.1428T>A (p.Ile476=)
n.3183T>A
10g.30313931A>CCA376434798MTPAPc.1427T>G (p.Ile476Ser)
n.3182T>G
10g.30313931A>GCA376434799MTPAPc.1427T>C (p.Ile476Thr)
n.3182T>C
10g.30313931A>TCA376434797MTPAPc.1427T>A (p.Ile476Asn)
n.3182T>A
10g.30313932T>ACA376434800MTPAPc.1426A>T (p.Ile476Phe)
n.3181A>T
10g.30313932T>CCA5458944MTPAPc.1426A>G (p.Ile476Val)
n.3181A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.30313932T>GCA376434801MTPAPc.1426A>C (p.Ile476Leu)
n.3181A>C
10g.30313932T=CA1899314045MTPAPc.1426A= (p.Ile476=)
n.3181A=
10g.30313933G>ACA468798949MTPAPc.1425C>T (p.Tyr475=)
n.3180C>T
dbSNP
10g.30313933G>CCA376434802MTPAPc.1425C>G (p.Tyr475Ter)
n.3180C>G
10g.30313933G=CA1899314046MTPAPc.1425C= (p.Tyr475=)
n.3180C=
10g.30313933G>TCA376434803MTPAPc.1425C>A (p.Tyr475Ter)
n.3180C>A
10g.30313934T>ACA376434804MTPAPc.1424A>T (p.Tyr475Phe)
n.3179A>T
10g.30313934T>CCA376434806MTPAPc.1424A>G (p.Tyr475Cys)
n.3179A>G
gnomAD v4
10g.30313934T>GCA376434805MTPAPc.1424A>C (p.Tyr475Ser)
n.3179A>C
10g.30313935A=CA1899314047MTPAPc.1423T= (p.Tyr475=)
n.3178T=
10g.30313935A>CCA376434807MTPAPc.1423T>G (p.Tyr475Asp)
n.3178T>G
10g.30313935A>GCA5458945MTPAPc.1423T>C (p.Tyr475His)
n.3178T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313935A>TCA376434808MTPAPc.1423T>A (p.Tyr475Asn)
n.3178T>A
10g.30313936C>ACA468798967MTPAPc.1422G>T (p.Leu474=)
n.3177G>T
10g.30313936C=CA1899314048MTPAPc.1422G= (p.Leu474=)
n.3177G=
10g.30313936C>GCA5458946MTPAPc.1422G>C (p.Leu474=)
n.3177G>C
dbSNP ExAC gnomAD v2
10g.30313936C>TCA468798971MTPAPc.1422G>A (p.Leu474=)
n.3177G>A
10g.30313937A>CCA376434809MTPAPc.1421T>G (p.Leu474Arg)
n.3176T>G
10g.30313937A>GCA376434810MTPAPc.1421T>C (p.Leu474Pro)
n.3176T>C
10g.30313937A>TCA376434811MTPAPc.1421T>A (p.Leu474Gln)
n.3176T>A
10g.30313937_30313940delinsAGAGCA1899314049MTPAPc.1418_1421delinsCTCT (p.Pro473=)
n.3173_3176delinsCTCT
10g.30313938G>ACA5458947MTPAPc.1420C>T (p.Leu474=)
n.3175C>T
dbSNP ExAC
10g.30313938G>CCA376434812MTPAPc.1420C>G (p.Leu474Val)
n.3175C>G
COSMIC COSMIC
10g.30313938G=CA1899314050MTPAPc.1420C= (p.Leu474=)
n.3175C=
10g.30313938G>TCA376434813MTPAPc.1420C>A (p.Leu474Met)
n.3175C>A
10g.30313941_30313943delCA658783074MTPAPc.1418_1420del (p.Pro473del)
n.3173_3175del
dbSNP gnomAD v3 gnomAD v4
10g.30313939A=CA1899314051MTPAPc.1419T= (p.Pro473=)
n.3174T=
10g.30313939A>CCA468798991MTPAPc.1419T>G (p.Pro473=)
n.3174T>G
10g.30313939A>GCA205301075MTPAPc.1419T>C (p.Pro473=)
n.3174T>C
ClinVar dbSNP gnomAD v4
10g.30313939A>TCA468798999MTPAPc.1419T>A (p.Pro473=)
n.3174T>A
10g.30313939_30313940insTCA5458948MTPAPc.1418_1419insA (p.Leu474SerfsTer8)
n.3173_3174insA
dbSNP ExAC
10g.30313940G>ACA376434814MTPAPc.1418C>T (p.Pro473Leu)
n.3173C>T
10g.30313940G>CCA376434815MTPAPc.1418C>G (p.Pro473Arg)
n.3173C>G
gnomAD v4
10g.30313940G>TCA376434816MTPAPc.1418C>A (p.Pro473His)
n.3173C>A
10g.30313941G>ACA376434817MTPAPc.1417C>T (p.Pro473Ser)
n.3172C>T
10g.30313941G>CCA376434819MTPAPc.1417C>G (p.Pro473Ala)
n.3172C>G
10g.30313941G>TCA376434818MTPAPc.1417C>A (p.Pro473Thr)
n.3172C>A
10g.30313942A=CA1899314052MTPAPc.1416T= (p.Ser472=)
n.3171T=
10g.30313942A>CCA468799009MTPAPc.1416T>G (p.Ser472=)
n.3171T>G
10g.30313942A>GCA468799008MTPAPc.1416T>C (p.Ser472=)
n.3171T>C
10g.30313942A>TCA468799006MTPAPc.1416T>A (p.Ser472=)
n.3171T>A
10g.30313942_30313943insTTTCA5458949MTPAPc.1415_1416insAAA (p.Ser472_Pro473insAsn)
n.3170_3171insAAA
dbSNP ExAC
10g.30313943G>ACA376434820MTPAPc.1415C>T (p.Ser472Phe)
n.3170C>T
10g.30313943G>CCA376434821MTPAPc.1415C>G (p.Ser472Cys)
n.3170C>G
10g.30313943G=CA1899314053MTPAPc.1415C= (p.Ser472=)
n.3170C=
10g.30313943G>TCA376434822MTPAPc.1415C>A (p.Ser472Tyr)
n.3170C>A
gnomAD v4
10g.30313943_30313944insTCTCAAAAAACCA5458950MTPAPc.1414_1415insGTTTTTTGAGA (p.Ser472CysfsTer19)
n.3169_3170insGTTTTTTGAGA
dbSNP ExAC
10g.30313944A>CCA376434823MTPAPc.1414T>G (p.Ser472Ala)
n.3169T>G
10g.30313944A>GCA376434824MTPAPc.1414T>C (p.Ser472Pro)
n.3169T>C
10g.30313944A>TCA376434825MTPAPc.1414T>A (p.Ser472Thr)
n.3169T>A
10g.30313945A=CA1899314054MTPAPc.1413T= (p.Ser471=)
n.3168T=
10g.30313945A>CCA468799022MTPAPc.1413T>G (p.Ser471=)
n.3168T>G
gnomAD v4
10g.30313945A>GCA5458951MTPAPc.1413T>C (p.Ser471=)
n.3168T>C
dbSNP ExAC gnomAD v2
10g.30313945A>TCA468799027MTPAPc.1413T>A (p.Ser471=)
n.3168T>A
10g.30313946G>ACA5458952MTPAPc.1412C>T (p.Ser471Phe)
n.3167C>T
dbSNP ExAC
10g.30313946G>CCA376434827MTPAPc.1412C>G (p.Ser471Cys)
n.3167C>G
gnomAD v4
10g.30313946G=CA1899314055MTPAPc.1412C= (p.Ser471=)
n.3167C=
10g.30313946G>TCA376434826MTPAPc.1412C>A (p.Ser471Tyr)
n.3167C>A
10g.30313947A=CA1899314056MTPAPc.1411T= (p.Ser471=)
n.3166T=
10g.30313947A>CCA5458953MTPAPc.1411T>G (p.Ser471Ala)
n.3166T>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313947A>GCA376434828MTPAPc.1411T>C (p.Ser471Pro)
n.3166T>C
10g.30313947A>TCA376434829MTPAPc.1411T>A (p.Ser471Thr)
n.3166T>A

Number of alleles fetched