Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.30313684T>ACA468798006MTPAPc.1674A>T (p.Leu558=)
n.3429A>T
10g.30313684T>CCA468798007MTPAPc.1674A>G (p.Leu558=)
n.3429A>G
10g.30313684T>GCA468798008MTPAPc.1674A>C (p.Leu558=)
n.3429A>C
10g.30313685A=CA1899313951MTPAPc.1673T= (p.Leu558=)
n.3428T=
10g.30313685A>CCA376433979MTPAPc.1673T>G (p.Leu558Arg)
n.3428T>G
10g.30313685A>GCA5458908MTPAPc.1673T>C (p.Leu558Pro)
n.3428T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.30313685A>TCA376433980MTPAPc.1673T>A (p.Leu558Gln)
n.3428T>A
10g.30313686G>ACA468798009MTPAPc.1672C>T (p.Leu558=)
n.3427C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.30313686G>CCA376433982MTPAPc.1672C>G (p.Leu558Val)
n.3427C>G
10g.30313686G=CA1899313952MTPAPc.1672C= (p.Leu558=)
n.3427C=
10g.30313686G>TCA376433984MTPAPc.1672C>A (p.Leu558Ile)
n.3427C>A
10g.30313687C>ACA376433985MTPAPc.1671G>T (p.Leu557Phe)
n.3426G>T
10g.30313687C=CA1899313953MTPAPc.1671G= (p.Leu557=)
n.3426G=
10g.30313687C>GCA5458909MTPAPc.1671G>C (p.Leu557Phe)
n.3426G>C
dbSNP ExAC gnomAD v2
10g.30313687C>TCA468798010MTPAPc.1671G>A (p.Leu557=)
n.3426G>A
10g.30313688A>CCA376433986MTPAPc.1670T>G (p.Leu557Trp)
n.3425T>G
10g.30313688A>GCA376433988MTPAPc.1670T>C (p.Leu557Ser)
n.3425T>C
10g.30313688A>TCA376433990MTPAPc.1670T>A (p.Leu557Ter)
n.3425T>A
10g.30313689A>CCA376433992MTPAPc.1669T>G (p.Leu557Val)
n.3424T>G
10g.30313689A>GCA468798011MTPAPc.1669T>C (p.Leu557=)
n.3424T>C
10g.30313689A>TCA376433995MTPAPc.1669T>A (p.Leu557Met)
n.3424T>A
10g.30313690G>ACA468798012MTPAPc.1668C>T (p.Asn556=)
n.3423C>T
10g.30313690G>CCA376433997MTPAPc.1668C>G (p.Asn556Lys)
n.3423C>G
dbSNP gnomAD v2 gnomAD v4
10g.30313690G=CA1899313954MTPAPc.1668C= (p.Asn556=)
n.3423C=
10g.30313690G>TCA376433998MTPAPc.1668C>A (p.Asn556Lys)
n.3423C>A
10g.30313690_30313691delCA2574454080MTPAPc.1667_1668del (p.Asn556IlefsTer8)
n.3422_3423del
10g.30313691T>ACA376433999MTPAPc.1667A>T (p.Asn556Ile)
n.3422A>T
10g.30313691T>CCA376434003MTPAPc.1667A>G (p.Asn556Ser)
n.3422A>G
10g.30313691T>GCA376434000MTPAPc.1667A>C (p.Asn556Thr)
n.3422A>C
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.30313691T=CA1899313955MTPAPc.1667A= (p.Asn556=)
n.3422A=
10g.30313693_30313695delCA2574454085MTPAPc.1665_1667del (p.Lys555del)
n.3420_3422del
10g.30313692T>ACA376434005MTPAPc.1666A>T (p.Asn556Tyr)
n.3421A>T
10g.30313692T>CCA376434007MTPAPc.1666A>G (p.Asn556Asp)
n.3421A>G
10g.30313692T>GCA376434008MTPAPc.1666A>C (p.Asn556His)
n.3421A>C
10g.30313693T>ACA376434010MTPAPc.1665A>T (p.Lys555Asn)
n.3420A>T
10g.30313693T>CCA205300883MTPAPc.1665A>G (p.Lys555=)
n.3420A>G
dbSNP
10g.30313693T>GCA376434012MTPAPc.1665A>C (p.Lys555Asn)
n.3420A>C
10g.30313693T=CA1899313956MTPAPc.1665A= (p.Lys555=)
n.3420A=
10g.30313694T>ACA376434014MTPAPc.1664A>T (p.Lys555Ile)
n.3419A>T
10g.30313694T>CCA5458910MTPAPc.1664A>G (p.Lys555Arg)
n.3419A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
10g.30313694T>GCA376434015MTPAPc.1664A>C (p.Lys555Thr)
n.3419A>C
10g.30313694T=CA1899313957MTPAPc.1664A= (p.Lys555=)
n.3419A=
10g.30313695T>ACA376434017MTPAPc.1663A>T (p.Lys555Ter)
n.3418A>T
10g.30313695T>CCA376434019MTPAPc.1663A>G (p.Lys555Glu)
n.3418A>G
dbSNP gnomAD v2
10g.30313695T>GCA376434020MTPAPc.1663A>C (p.Lys555Gln)
n.3418A>C
10g.30313695T=CA1899313958MTPAPc.1663A= (p.Lys555=)
n.3418A=
10g.30313696G>ACA5458911MTPAPc.1662C>T (p.Val554=)
n.3417C>T
dbSNP ExAC gnomAD v2 gnomAD v4
10g.30313696G>CCA468798013MTPAPc.1662C>G (p.Val554=)
n.3417C>G
COSMIC COSMIC
10g.30313696G=CA1899313959MTPAPc.1662C= (p.Val554=)
n.3417C=
10g.30313696G>TCA468798014MTPAPc.1662C>A (p.Val554=)
n.3417C>A
10g.30313697A=CA1899313960MTPAPc.1661T= (p.Val554=)
n.3416T=
10g.30313697A>CCA376434023MTPAPc.1661T>G (p.Val554Gly)
n.3416T>G
gnomAD v4
10g.30313697A>GCA376434026MTPAPc.1661T>C (p.Val554Ala)
n.3416T>C
gnomAD v4
10g.30313697A>TCA376434028MTPAPc.1661T>A (p.Val554Asp)
n.3416T>A
dbSNP gnomAD v3 gnomAD v4
10g.30313698C>ACA376434030MTPAPc.1660G>T (p.Val554Phe)
n.3415G>T
10g.30313698C>GCA376434032MTPAPc.1660G>C (p.Val554Leu)
n.3415G>C
10g.30313698C>TCA376434034MTPAPc.1660G>A (p.Val554Ile)
n.3415G>A
gnomAD v4 COSMIC COSMIC
10g.30313699T>ACA468798015MTPAPc.1659A>T (p.Thr553=)
n.3414A>T
10g.30313699T>CCA468798016MTPAPc.1659A>G (p.Thr553=)
n.3414A>G
10g.30313699T>GCA468798017MTPAPc.1659A>C (p.Thr553=)
n.3414A>C
gnomAD v4
10g.30313700G>ACA376434036MTPAPc.1658C>T (p.Thr553Ile)
n.3413C>T
10g.30313700G>CCA376434038MTPAPc.1658C>G (p.Thr553Arg)
n.3413C>G
10g.30313700G>TCA376434039MTPAPc.1658C>A (p.Thr553Lys)
n.3413C>A
COSMIC COSMIC
10g.30313701T>ACA376434040MTPAPc.1657A>T (p.Thr553Ser)
n.3412A>T
10g.30313701T>CCA376434041MTPAPc.1657A>G (p.Thr553Ala)
n.3412A>G
gnomAD v4
10g.30313701T>GCA376434042MTPAPc.1657A>C (p.Thr553Pro)
n.3412A>C
10g.30313702T>ACA376434044MTPAPc.1656A>T (p.Glu552Asp)
n.3411A>T
10g.30313702T>CCA468798018MTPAPc.1656A>G (p.Glu552=)
n.3411A>G
10g.30313702T>GCA376434048MTPAPc.1656A>C (p.Glu552Asp)
n.3411A>C
10g.30313703T>ACA376434051MTPAPc.1655A>T (p.Glu552Val)
n.3410A>T
10g.30313703T>CCA376434053MTPAPc.1655A>G (p.Glu552Gly)
n.3410A>G
dbSNP gnomAD v2 gnomAD v4
10g.30313703T>GCA376434052MTPAPc.1655A>C (p.Glu552Ala)
n.3410A>C
10g.30313703T=CA1899313961MTPAPc.1655A= (p.Glu552=)
n.3410A=
10g.30313704delCA2608695787MTPAPc.1654del (p.Glu552LysfsTer7)
n.3409del
gnomAD v4
10g.30313704C>ACA376434054MTPAPc.1654G>T (p.Glu552Ter)
n.3409G>T
10g.30313704C>GCA376434056MTPAPc.1654G>C (p.Glu552Gln)
n.3409G>C
10g.30313704C>TCA376434061MTPAPc.1654G>A (p.Glu552Lys)
n.3409G>A
COSMIC COSMIC
10g.30313705A=CA1899313962MTPAPc.1653T= (p.Ile551=)
n.3408T=
10g.30313705A>CCA376434064MTPAPc.1653T>G (p.Ile551Met)
n.3408T>G
10g.30313705A>GCA468798019MTPAPc.1653T>C (p.Ile551=)
n.3408T>C
dbSNP
10g.30313705A>TCA468798020MTPAPc.1653T>A (p.Ile551=)
n.3408T>A
10g.30313706A=CA1899313963MTPAPc.1652T= (p.Ile551=)
n.3407T=
10g.30313706A>CCA376434065MTPAPc.1652T>G (p.Ile551Ser)
n.3407T>G
10g.30313706A>GCA205300897MTPAPc.1652T>C (p.Ile551Thr)
n.3407T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.30313706A>TCA376434069MTPAPc.1652T>A (p.Ile551Asn)
n.3407T>A
10g.30313707T>ACA376434072MTPAPc.1651A>T (p.Ile551Phe)
n.3406A>T
10g.30313707T>CCA205300901MTPAPc.1651A>G (p.Ile551Val)
n.3406A>G
dbSNP gnomAD v2 gnomAD v4
10g.30313707T>GCA376434073MTPAPc.1651A>C (p.Ile551Leu)
n.3406A>C
10g.30313707T=CA1899313964MTPAPc.1651A= (p.Ile551=)
n.3406A=
10g.30313708T>ACA468798023MTPAPc.1650A>T (p.Ala550=)
n.3405A>T
10g.30313708T>CCA468798022MTPAPc.1650A>G (p.Ala550=)
n.3405A>G
gnomAD v4
10g.30313708T>GCA468798021MTPAPc.1650A>C (p.Ala550=)
n.3405A>C
10g.30313709G>ACA376434075MTPAPc.1649C>T (p.Ala550Val)
n.3404C>T
10g.30313709G>CCA376434076MTPAPc.1649C>G (p.Ala550Gly)
n.3404C>G
10g.30313709G>TCA376434077MTPAPc.1649C>A (p.Ala550Glu)
n.3404C>A
10g.30313710C>ACA376434079MTPAPc.1648G>T (p.Ala550Ser)
n.3403G>T
gnomAD v4
10g.30313710C>GCA376434081MTPAPc.1648G>C (p.Ala550Pro)
n.3403G>C
10g.30313710C>TCA376434080MTPAPc.1648G>A (p.Ala550Thr)
n.3403G>A
10g.30313711A>CCA376434082MTPAPc.1647T>G (p.Phe549Leu)
n.3402T>G
10g.30313711A>GCA468798024MTPAPc.1647T>C (p.Phe549=)
n.3402T>C
gnomAD v4
10g.30313711A>TCA376434083MTPAPc.1647T>A (p.Phe549Leu)
n.3402T>A
10g.30313712A>CCA376434085MTPAPc.1646T>G (p.Phe549Cys)
n.3401T>G
10g.30313712A>GCA376434087MTPAPc.1646T>C (p.Phe549Ser)
n.3401T>C
10g.30313712A>TCA376434089MTPAPc.1646T>A (p.Phe549Tyr)
n.3401T>A
10g.30313713A>CCA376434092MTPAPc.1645T>G (p.Phe549Val)
n.3400T>G
10g.30313713A>GCA376434093MTPAPc.1645T>C (p.Phe549Leu)
n.3400T>C
10g.30313713A>TCA376434095MTPAPc.1645T>A (p.Phe549Ile)
n.3400T>A
10g.30313714C>ACA376434097MTPAPc.1644G>T (p.Lys548Asn)
n.3399G>T
10g.30313714C=CA1899313965MTPAPc.1644G= (p.Lys548=)
n.3399G=
10g.30313714C>GCA376434100MTPAPc.1644G>C (p.Lys548Asn)
n.3399G>C
10g.30313714C>TCA468798025MTPAPc.1644G>A (p.Lys548=)
n.3399G>A
dbSNP gnomAD v4
10g.30313715T>ACA376434107MTPAPc.1643A>T (p.Lys548Met)
n.3398A>T
10g.30313715T>CCA5458913MTPAPc.1643A>G (p.Lys548Arg)
n.3398A>G
dbSNP ExAC gnomAD v2
10g.30313715T>GCA5458912MTPAPc.1643A>C (p.Lys548Thr)
n.3398A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313715T=CA1899313966MTPAPc.1643A= (p.Lys548=)
n.3398A=
10g.30313716T>ACA376434108MTPAPc.1642A>T (p.Lys548Ter)
n.3397A>T
gnomAD v4
10g.30313716T>CCA376434111MTPAPc.1642A>G (p.Lys548Glu)
n.3397A>G
10g.30313716T>GCA376434109MTPAPc.1642A>C (p.Lys548Gln)
n.3397A>C
10g.30313716T=CA1899313967MTPAPc.1642A= (p.Lys548=)
n.3397A=
10g.30313717A>CCA376434114MTPAPc.1641T>G (p.Asn547Lys)
n.3396T>G
10g.30313717A>GCA468798026MTPAPc.1641T>C (p.Asn547=)
n.3396T>C
10g.30313717A>TCA376434115MTPAPc.1641T>A (p.Asn547Lys)
n.3396T>A
10g.30313717dupCA592449232MTPAPc.1641dup (p.Lys548Ter)
n.3396dup
dbSNP gnomAD v2 gnomAD v4
10g.30313718T>ACA376434116MTPAPc.1640A>T (p.Asn547Ile)
n.3395A>T
10g.30313718T>CCA5458914MTPAPc.1640A>G (p.Asn547Ser)
n.3395A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313718T>GCA376434123MTPAPc.1640A>C (p.Asn547Thr)
n.3395A>C
10g.30313718T=CA1899313968MTPAPc.1640A= (p.Asn547=)
n.3395A=
10g.30313719T>ACA376434126MTPAPc.1639A>T (p.Asn547Tyr)
n.3394A>T
10g.30313719T>CCA376434130MTPAPc.1639A>G (p.Asn547Asp)
n.3394A>G
10g.30313719T>GCA376434135MTPAPc.1639A>C (p.Asn547His)
n.3394A>C
10g.30313720G>ACA468798027MTPAPc.1638C>T (p.Ser546=)
n.3393C>T
10g.30313720G>CCA376434141MTPAPc.1638C>G (p.Ser546Arg)
n.3393C>G
10g.30313720G>TCA376434144MTPAPc.1638C>A (p.Ser546Arg)
n.3393C>A
10g.30313721C>ACA376434145MTPAPc.1637G>T (p.Ser546Ile)
n.3392G>T
10g.30313721C=CA1899313969MTPAPc.1637G= (p.Ser546=)
n.3392G=
10g.30313721C>GCA376434146MTPAPc.1637G>C (p.Ser546Thr)
n.3392G>C
10g.30313721C>TCA5458915MTPAPc.1637G>A (p.Ser546Asn)
n.3392G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313722T>ACA376434151MTPAPc.1636A>T (p.Ser546Cys)
n.3391A>T
10g.30313722T>CCA376434150MTPAPc.1636A>G (p.Ser546Gly)
n.3391A>G
10g.30313722T>GCA376434148MTPAPc.1636A>C (p.Ser546Arg)
n.3391A>C
10g.30313723T>ACA376434153MTPAPc.1635A>T (p.Lys545Asn)
n.3390A>T
10g.30313723T>CCA468798028MTPAPc.1635A>G (p.Lys545=)
n.3390A>G
10g.30313723T>GCA376434155MTPAPc.1635A>C (p.Lys545Asn)
n.3390A>C
10g.30313724T>ACA376434157MTPAPc.1634A>T (p.Lys545Ile)
n.3389A>T
10g.30313724T>CCA376434159MTPAPc.1634A>G (p.Lys545Arg)
n.3389A>G
dbSNP gnomAD v4
10g.30313724T>GCA376434161MTPAPc.1634A>C (p.Lys545Thr)
n.3389A>C
10g.30313724T=CA1899313970MTPAPc.1634A= (p.Lys545=)
n.3389A=
10g.30313725T>ACA376434163MTPAPc.1633A>T (p.Lys545Ter)
n.3388A>T
10g.30313725T>CCA376434165MTPAPc.1633A>G (p.Lys545Glu)
n.3388A>G
10g.30313725T>GCA376434166MTPAPc.1633A>C (p.Lys545Gln)
n.3388A>C
10g.30313726C>ACA376434168MTPAPc.1632G>T (p.Lys544Asn)
n.3387G>T
10g.30313726C=CA1899313971MTPAPc.1632G= (p.Lys544=)
n.3387G=
10g.30313726C>GCA376434173MTPAPc.1632G>C (p.Lys544Asn)
n.3387G>C
10g.30313726C>TCA468798029MTPAPc.1632G>A (p.Lys544=)
n.3387G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.30313727T>ACA376434176MTPAPc.1631A>T (p.Lys544Met)
n.3386A>T
10g.30313727T>CCA376434177MTPAPc.1631A>G (p.Lys544Arg)
n.3386A>G
10g.30313727T>GCA376434179MTPAPc.1631A>C (p.Lys544Thr)
n.3386A>C
10g.30313728T>ACA376434185MTPAPc.1630A>T (p.Lys544Ter)
n.3385A>T
10g.30313728T>CCA376434182MTPAPc.1630A>G (p.Lys544Glu)
n.3385A>G
10g.30313728T>GCA376434181MTPAPc.1630A>C (p.Lys544Gln)
n.3385A>C
10g.30313729C>ACA376434188MTPAPc.1629G>T (p.Lys543Asn)
n.3384G>T
10g.30313729C>GCA376434186MTPAPc.1629G>C (p.Lys543Asn)
n.3384G>C
10g.30313729C>TCA468798030MTPAPc.1629G>A (p.Lys543=)
n.3384G>A
10g.30313730T>ACA376434190MTPAPc.1628A>T (p.Lys543Met)
n.3383A>T
10g.30313730T>CCA376434192MTPAPc.1628A>G (p.Lys543Arg)
n.3383A>G
dbSNP gnomAD v2 gnomAD v4
10g.30313730T>GCA5458916MTPAPc.1628A>C (p.Lys543Thr)
n.3383A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313730T=CA1899313972MTPAPc.1628A= (p.Lys543=)
n.3383A=
10g.30313731T>ACA376434196MTPAPc.1627A>T (p.Lys543Ter)
n.3382A>T
10g.30313731T>CCA376434198MTPAPc.1627A>G (p.Lys543Glu)
n.3382A>G
10g.30313731T>GCA376434199MTPAPc.1627A>C (p.Lys543Gln)
n.3382A>C
10g.30313732G>ACA468798031MTPAPc.1626C>T (p.Thr542=)
n.3381C>T
dbSNP gnomAD v2 gnomAD v4
10g.30313732G>CCA468798032MTPAPc.1626C>G (p.Thr542=)
n.3381C>G
10g.30313732G=CA1899313973MTPAPc.1626C= (p.Thr542=)
n.3381C=
10g.30313732G>TCA468798033MTPAPc.1626C>A (p.Thr542=)
n.3381C>A
10g.30313733G>ACA376434201MTPAPc.1625C>T (p.Thr542Ile)
n.3380C>T
gnomAD v4 COSMIC COSMIC
10g.30313733G>CCA376434202MTPAPc.1625C>G (p.Thr542Ser)
n.3380C>G
dbSNP gnomAD v3 gnomAD v4
10g.30313733G=CA1899313974MTPAPc.1625C= (p.Thr542=)
n.3380C=
10g.30313733G>TCA376434204MTPAPc.1625C>A (p.Thr542Asn)
n.3380C>A
10g.30313734T>ACA376434206MTPAPc.1624A>T (p.Thr542Ser)
n.3379A>T
10g.30313734T>CCA5458917MTPAPc.1624A>G (p.Thr542Ala)
n.3379A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313734T>GCA376434207MTPAPc.1624A>C (p.Thr542Pro)
n.3379A>C
COSMIC COSMIC
10g.30313734T=CA1899313975MTPAPc.1624A= (p.Thr542=)
n.3379A=
10g.30313735A>CCA376434211MTPAPc.1623T>G (p.Phe541Leu)
n.3378T>G
10g.30313735A>GCA468798034MTPAPc.1623T>C (p.Phe541=)
n.3378T>C
10g.30313735A>TCA376434209MTPAPc.1623T>A (p.Phe541Leu)
n.3378T>A
10g.30313736A>CCA376434213MTPAPc.1622T>G (p.Phe541Cys)
n.3377T>G
10g.30313736A>GCA376434214MTPAPc.1622T>C (p.Phe541Ser)
n.3377T>C
10g.30313736A>TCA376434216MTPAPc.1622T>A (p.Phe541Tyr)
n.3377T>A
10g.30313737A>CCA376434218MTPAPc.1621T>G (p.Phe541Val)
n.3376T>G
10g.30313737A>GCA376434219MTPAPc.1621T>C (p.Phe541Leu)
n.3376T>C
COSMIC COSMIC
10g.30313737A>TCA376434220MTPAPc.1621T>A (p.Phe541Ile)
n.3376T>A
10g.30313738G>ACA468798035MTPAPc.1620C>T (p.Ser540=)
n.3375C>T
COSMIC COSMIC
10g.30313738G>CCA468798036MTPAPc.1620C>G (p.Ser540=)
n.3375C>G
gnomAD v4
10g.30313738G>TCA468798037MTPAPc.1620C>A (p.Ser540=)
n.3375C>A
10g.30313739G>ACA376434221MTPAPc.1619C>T (p.Ser540Phe)
n.3374C>T
10g.30313739G>CCA376434222MTPAPc.1619C>G (p.Ser540Cys)
n.3374C>G
dbSNP
10g.30313739G>TCA376434223MTPAPc.1619C>A (p.Ser540Tyr)
n.3374C>A
10g.30313740A>CCA376434225MTPAPc.1618T>G (p.Ser540Ala)
n.3373T>G
10g.30313740A>GCA376434226MTPAPc.1618T>C (p.Ser540Pro)
n.3373T>C
10g.30313740A>TCA376434227MTPAPc.1618T>A (p.Ser540Thr)
n.3373T>A
10g.30313741C>ACA376434228MTPAPc.1617G>T (p.Lys539Asn)
n.3372G>T
10g.30313741C=CA1899313976MTPAPc.1617G= (p.Lys539=)
n.3372G=
10g.30313741C>GCA376434229MTPAPc.1617G>C (p.Lys539Asn)
n.3372G>C
10g.30313741C>TCA468798039MTPAPc.1617G>A (p.Lys539=)
n.3372G>A
dbSNP gnomAD v2 gnomAD v4
10g.30313742T>ACA376434232MTPAPc.1616A>T (p.Lys539Met)
n.3371A>T
10g.30313742T>CCA376434231MTPAPc.1616A>G (p.Lys539Arg)
n.3371A>G
gnomAD v4
10g.30313742T>GCA376434230MTPAPc.1616A>C (p.Lys539Thr)
n.3371A>C
10g.30313743T>ACA376434233MTPAPc.1615A>T (p.Lys539Ter)
n.3370A>T
10g.30313743T>CCA376434235MTPAPc.1615A>G (p.Lys539Glu)
n.3370A>G
10g.30313743T>GCA376434237MTPAPc.1615A>C (p.Lys539Gln)
n.3370A>C
10g.30313744T>ACA376434239MTPAPc.1614A>T (p.Arg538Ser)
n.3369A>T
10g.30313744T>CCA468798040MTPAPc.1614A>G (p.Arg538=)
n.3369A>G
10g.30313744T>GCA376434240MTPAPc.1614A>C (p.Arg538Ser)
n.3369A>C
10g.30313745_30313746delCA2608695841MTPAPc.1613_1614del (p.Arg538LysfsTer10)
n.3368_3369del
gnomAD v4
10g.30313745C>ACA376434244MTPAPc.1613G>T (p.Arg538Ile)
n.3368G>T
10g.30313745C>GCA376434246MTPAPc.1613G>C (p.Arg538Thr)
n.3368G>C
ClinVar gnomAD v4
10g.30313745C>TCA376434248MTPAPc.1613G>A (p.Arg538Lys)
n.3368G>A
10g.30313746T>ACA376434249MTPAPc.1612A>T (p.Arg538Ter)
n.3367A>T
10g.30313746T>CCA376434252MTPAPc.1612A>G (p.Arg538Gly)
n.3367A>G
10g.30313746T>GCA468798041MTPAPc.1612A>C (p.Arg538=)
n.3367A>C
ClinVar
10g.30313747G>ACA468798042MTPAPc.1611C>T (p.Asn537=)
n.3366C>T
10g.30313747G>CCA376434254MTPAPc.1611C>G (p.Asn537Lys)
n.3366C>G
10g.30313747G>TCA376434258MTPAPc.1611C>A (p.Asn537Lys)
n.3366C>A
10g.30313748T>ACA376434260MTPAPc.1610A>T (p.Asn537Ile)
n.3365A>T
dbSNP gnomAD v3 gnomAD v4
10g.30313748T>CCA376434261MTPAPc.1610A>G (p.Asn537Ser)
n.3365A>G
gnomAD v4
10g.30313748T>GCA376434266MTPAPc.1610A>C (p.Asn537Thr)
n.3365A>C
10g.30313748T=CA1899313977MTPAPc.1610A= (p.Asn537=)
n.3365A=
10g.30313749T>ACA376434269MTPAPc.1609A>T (p.Asn537Tyr)
n.3364A>T
10g.30313749T>CCA376434273MTPAPc.1609A>G (p.Asn537Asp)
n.3364A>G
10g.30313749T>GCA376434272MTPAPc.1609A>C (p.Asn537His)
n.3364A>C
10g.30313750T>ACA468798043MTPAPc.1608A>T (p.Pro536=)
n.3363A>T
10g.30313750T>CCA468798044MTPAPc.1608A>G (p.Pro536=)
n.3363A>G
dbSNP gnomAD v4
10g.30313750T>GCA468798045MTPAPc.1608A>C (p.Pro536=)
n.3363A>C
10g.30313750T=CA1899313978MTPAPc.1608A= (p.Pro536=)
n.3363A=
10g.30313751G>ACA376434274MTPAPc.1607C>T (p.Pro536Leu)
n.3362C>T
gnomAD v4
10g.30313751G>CCA5458918MTPAPc.1607C>G (p.Pro536Arg)
n.3362C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.30313751G=CA1899313979MTPAPc.1607C= (p.Pro536=)
n.3362C=
10g.30313751G>TCA376434277MTPAPc.1607C>A (p.Pro536Gln)
n.3362C>A
10g.30313752G>ACA376434279MTPAPc.1606C>T (p.Pro536Ser)
n.3361C>T
10g.30313752G>CCA376434281MTPAPc.1606C>G (p.Pro536Ala)
n.3361C>G
ClinVar dbSNP gnomAD v4
10g.30313752G>TCA376434283MTPAPc.1606C>A (p.Pro536Thr)
n.3361C>A
10g.30313753A>CCA468798637MTPAPc.1605T>G (p.Ala535=)
n.3360T>G
10g.30313753A>GCA468798638MTPAPc.1605T>C (p.Ala535=)
n.3360T>C
10g.30313753A>TCA468798639MTPAPc.1605T>A (p.Ala535=)
n.3360T>A
10g.30313754G>ACA376434285MTPAPc.1604C>T (p.Ala535Val)
n.3359C>T
10g.30313754G>CCA376434288MTPAPc.1604C>G (p.Ala535Gly)
n.3359C>G
10g.30313754G>TCA376434290MTPAPc.1604C>A (p.Ala535Asp)
n.3359C>A
10g.30313755C>ACA376434291MTPAPc.1603G>T (p.Ala535Ser)
n.3358G>T
gnomAD v4
10g.30313755C>GCA376434293MTPAPc.1603G>C (p.Ala535Pro)
n.3358G>C
dbSNP
10g.30313755C>TCA376434295MTPAPc.1603G>A (p.Ala535Thr)
n.3358G>A
10g.30313756A>CCA468798640MTPAPc.1602T>G (p.Ser534=)
n.3357T>G
10g.30313756A>GCA468798641MTPAPc.1602T>C (p.Ser534=)
n.3357T>C
10g.30313756A>TCA468798642MTPAPc.1602T>A (p.Ser534=)
n.3357T>A
10g.30313757G>ACA376434296MTPAPc.1601C>T (p.Ser534Phe)
n.3356C>T
gnomAD v4
10g.30313757G>CCA376434300MTPAPc.1601C>G (p.Ser534Cys)
n.3356C>G
dbSNP
10g.30313757G=CA1899313980MTPAPc.1601C= (p.Ser534=)
n.3356C=
10g.30313757G>TCA376434298MTPAPc.1601C>A (p.Ser534Tyr)
n.3356C>A
10g.30313758A=CA1899313981MTPAPc.1600T= (p.Ser534=)
n.3355T=
10g.30313758A>CCA376434303MTPAPc.1600T>G (p.Ser534Ala)
n.3355T>G
10g.30313758A>GCA205300933MTPAPc.1600T>C (p.Ser534Pro)
n.3355T>C
dbSNP
10g.30313758A>TCA376434305MTPAPc.1600T>A (p.Ser534Thr)
n.3355T>A
10g.30313759T>ACA468798643MTPAPc.1599A>T (p.Pro533=)
n.3354A>T
10g.30313759T>CCA205300948MTPAPc.1599A>G (p.Pro533=)
n.3354A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.30313759T>GCA468798644MTPAPc.1599A>C (p.Pro533=)
n.3354A>C
10g.30313759T=CA1899313982MTPAPc.1599A= (p.Pro533=)
n.3354A=
10g.30313760G>ACA376434308MTPAPc.1598C>T (p.Pro533Leu)
n.3353C>T
10g.30313760G>CCA376434310MTPAPc.1598C>G (p.Pro533Arg)
n.3353C>G
10g.30313760G=CA1899313983MTPAPc.1598C= (p.Pro533=)
n.3353C=
10g.30313760G>TCA205300949MTPAPc.1598C>A (p.Pro533Gln)
n.3353C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.30313761G>ACA376434314MTPAPc.1597C>T (p.Pro533Ser)
n.3352C>T
ClinVar
10g.30313761G>CCA376434316MTPAPc.1597C>G (p.Pro533Ala)
n.3352C>G
10g.30313761G>TCA376434317MTPAPc.1597C>A (p.Pro533Thr)
n.3352C>A
10g.30313762T>ACA468798645MTPAPc.1596A>T (p.Leu532=)
n.3351A>T
10g.30313762T>CCA468798647MTPAPc.1596A>G (p.Leu532=)
n.3351A>G
gnomAD v4
10g.30313762T>GCA468798646MTPAPc.1596A>C (p.Leu532=)
n.3351A>C
10g.30313763A>CCA376434318MTPAPc.1595T>G (p.Leu532Arg)
n.3350T>G
10g.30313763A>GCA376434319MTPAPc.1595T>C (p.Leu532Pro)
n.3350T>C
gnomAD v4
10g.30313763A>TCA376434320MTPAPc.1595T>A (p.Leu532Gln)
n.3350T>A
10g.30313764G>ACA468798648MTPAPc.1594C>T (p.Leu532=)
n.3349C>T
gnomAD v4
10g.30313764G>CCA205300951MTPAPc.1594C>G (p.Leu532Val)
n.3349C>G
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
10g.30313764G=CA1899313984MTPAPc.1594C= (p.Leu532=)
n.3349C=
10g.30313764G>TCA376434321MTPAPc.1594C>A (p.Leu532Ile)
n.3349C>A
10g.30313765C>ACA376434323MTPAPc.1593G>T (p.Leu531Phe)
n.3348G>T
10g.30313765C=CA1899313985MTPAPc.1593G= (p.Leu531=)
n.3348G=
10g.30313765C>GCA376434324MTPAPc.1593G>C (p.Leu531Phe)
n.3348G>C
dbSNP
10g.30313765C>TCA468798649MTPAPc.1593G>A (p.Leu531=)
n.3348G>A
10g.30313765dupCA2608695842MTPAPc.1593dup (p.Leu532AlafsTer17)
n.3348dup
gnomAD v4
10g.30313766A>CCA376434326MTPAPc.1592T>G (p.Leu531Trp)
n.3347T>G
gnomAD v4
10g.30313766A>GCA376434329MTPAPc.1592T>C (p.Leu531Ser)
n.3347T>C
10g.30313766A>TCA376434331MTPAPc.1592T>A (p.Leu531Ter)
n.3347T>A
10g.30313767A>CCA376434333MTPAPc.1591T>G (p.Leu531Val)
n.3346T>G
10g.30313767A>GCA468798650MTPAPc.1591T>C (p.Leu531=)
n.3346T>C
10g.30313767A>TCA376434335MTPAPc.1591T>A (p.Leu531Met)
n.3346T>A
10g.30313768T>ACA468798651MTPAPc.1590A>T (p.Leu530=)
n.3345A>T
10g.30313768T>CCA468798652MTPAPc.1590A>G (p.Leu530=)
n.3345A>G
10g.30313768T>GCA468798653MTPAPc.1590A>C (p.Leu530=)
n.3345A>C
10g.30313769A>CCA376434341MTPAPc.1589T>G (p.Leu530Arg)
n.3344T>G
10g.30313769A>GCA376434343MTPAPc.1589T>C (p.Leu530Pro)
n.3344T>C
10g.30313769A>TCA376434345MTPAPc.1589T>A (p.Leu530Gln)
n.3344T>A
10g.30313770G>ACA468798654MTPAPc.1588C>T (p.Leu530=)
n.3343C>T
10g.30313770G>CCA376434346MTPAPc.1588C>G (p.Leu530Val)
n.3343C>G
10g.30313770G=CA1899313986MTPAPc.1588C= (p.Leu530=)
n.3343C=
10g.30313770G>TCA376434348MTPAPc.1588C>A (p.Leu530Ile)
n.3343C>A
10g.30313771G>ACA468798655MTPAPc.1587C>T (p.Ser529=)
n.3342C>T
COSMIC COSMIC
10g.30313771G>CCA468798656MTPAPc.1587C>G (p.Ser529=)
n.3342C>G
gnomAD v4
10g.30313771G>TCA468798657MTPAPc.1587C>A (p.Ser529=)
n.3342C>A
10g.30313771_30313774dupCA592781532MTPAPc.1584_1587dup (p.Leu530IlefsTer20)
n.3339_3342dup
dbSNP gnomAD v2 gnomAD v4
10g.30313772G>ACA376434350MTPAPc.1586C>T (p.Ser529Phe)
n.3341C>T
10g.30313772G>CCA376434353MTPAPc.1586C>G (p.Ser529Cys)
n.3341C>G
10g.30313772G>TCA376434352MTPAPc.1586C>A (p.Ser529Tyr)
n.3341C>A
10g.30313773A>CCA376434355MTPAPc.1585T>G (p.Ser529Ala)
n.3340T>G
10g.30313773A>GCA376434357MTPAPc.1585T>C (p.Ser529Pro)
n.3340T>C
10g.30313773A>TCA376434359MTPAPc.1585T>A (p.Ser529Thr)
n.3340T>A
10g.30313774T>ACA468798658MTPAPc.1584A>T (p.Val528=)
n.3339A>T
10g.30313774T>CCA5458919MTPAPc.1584A>G (p.Val528=)
n.3339A>G
dbSNP ExAC gnomAD v2 gnomAD v4
10g.30313774T>GCA468798659MTPAPc.1584A>C (p.Val528=)
n.3339A>C
10g.30313774T=CA1899313987MTPAPc.1584A= (p.Val528=)
n.3339A=
10g.30313775A>CCA376434363MTPAPc.1583T>G (p.Val528Gly)
n.3338T>G
10g.30313775A>GCA376434364MTPAPc.1583T>C (p.Val528Ala)
n.3338T>C
10g.30313775A>TCA376434365MTPAPc.1583T>A (p.Val528Glu)
n.3338T>A
10g.30313776C>ACA376434371MTPAPc.1582G>T (p.Val528Leu)
n.3337G>T
dbSNP gnomAD v2
10g.30313776C=CA1899313988MTPAPc.1582G= (p.Val528=)
n.3337G=
10g.30313776C>GCA376434368MTPAPc.1582G>C (p.Val528Leu)
n.3337G>C
dbSNP gnomAD v2 gnomAD v4
10g.30313776C>TCA376434369MTPAPc.1582G>A (p.Val528Ile)
n.3337G>A
dbSNP gnomAD v4
10g.30313777C>ACA468798660MTPAPc.1581G>T (p.Leu527=)
n.3336G>T
dbSNP gnomAD v2
10g.30313777C=CA1899313989MTPAPc.1581G= (p.Leu527=)
n.3336G=
10g.30313777C>GCA468798661MTPAPc.1581G>C (p.Leu527=)
n.3336G>C
10g.30313777C>TCA468798662MTPAPc.1581G>A (p.Leu527=)
n.3336G>A
10g.30313778A>CCA376434373MTPAPc.1580T>G (p.Leu527Arg)
n.3335T>G
10g.30313778A>GCA376434375MTPAPc.1580T>C (p.Leu527Pro)
n.3335T>C
10g.30313778A>TCA376434377MTPAPc.1580T>A (p.Leu527Gln)
n.3335T>A
10g.30313779G>ACA468798663MTPAPc.1579C>T (p.Leu527=)
n.3334C>T
gnomAD v4
10g.30313779G>CCA376434380MTPAPc.1579C>G (p.Leu527Val)
n.3334C>G
10g.30313779G>TCA376434382MTPAPc.1579C>A (p.Leu527Met)
n.3334C>A
10g.30313780C>ACA468798664MTPAPc.1578G>T (p.Gly526=)
n.3333G>T
gnomAD v4
10g.30313780C=CA1899313990MTPAPc.1578G= (p.Gly526=)
n.3333G=
10g.30313780C>GCA468798665MTPAPc.1578G>C (p.Gly526=)
n.3333G>C
ClinVar
10g.30313780C>TCA5458920MTPAPc.1578G>A (p.Gly526=)
n.3333G>A
dbSNP ExAC gnomAD v2
10g.30313781C>ACA376434386MTPAPc.1577G>T (p.Gly526Val)
n.3332G>T
10g.30313781C>GCA376434389MTPAPc.1577G>C (p.Gly526Ala)
n.3332G>C
10g.30313781C>TCA376434388MTPAPc.1577G>A (p.Gly526Glu)
n.3332G>A
10g.30313782C>ACA376434396MTPAPc.1576G>T (p.Gly526Trp)
n.3331G>T
gnomAD v4
10g.30313782C>GCA376434398MTPAPc.1576G>C (p.Gly526Arg)
n.3331G>C
10g.30313782C>TCA376434399MTPAPc.1576G>A (p.Gly526Arg)
n.3331G>A
gnomAD v4
10g.30313783C>ACA376434400MTPAPc.1575G>T (p.Trp525Cys)
n.3330G>T
10g.30313783C>GCA376434402MTPAPc.1575G>C (p.Trp525Cys)
n.3330G>C
10g.30313783C>TCA376434406MTPAPc.1575G>A (p.Trp525Ter)
n.3330G>A
10g.30313784C>ACA376434408MTPAPc.1574G>T (p.Trp525Leu)
n.3329G>T
10g.30313784C>GCA376434409MTPAPc.1574G>C (p.Trp525Ser)
n.3329G>C
10g.30313784C>TCA376434410MTPAPc.1574G>A (p.Trp525Ter)
n.3329G>A

Number of alleles fetched