Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.56004904C>ACA385297641SUOXc.1515C>A (p.Asn505Lys)
c.1536C>A (p.Asn512Lys)
 dbSNP
12g.56004904C=CA2038198079SUOXc.1515C= (p.Asn505=)
c.1536C= (p.Asn512=)
12g.56004904C>GCA385297646SUOXc.1515C>G (p.Asn505Lys)
c.1536C>G (p.Asn512Lys)
12g.56004904C>TCA6621172SUOXc.1515C>T (p.Asn505=)
c.1536C>T (p.Asn512=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004905A>CCA385297670SUOXc.1516A>C (p.Ile506Leu)
c.1537A>C (p.Ile513Leu)
12g.56004905A>GCA385297689SUOXc.1516A>G (p.Ile506Val)
c.1537A>G (p.Ile513Val)
 gnomAD v4
12g.56004905A>TCA385297664SUOXc.1516A>T (p.Ile506Phe)
c.1537A>T (p.Ile513Phe)
12g.56004905_56004909delinsATTGTCA2038198080SUOXc.1516_1520delinsATTGT (p.Ile506=)
c.1537_1541delinsATTGT (p.Ile513=)
12g.56004906T>ACA385297695SUOXc.1517T>A (p.Ile506Asn)
c.1538T>A (p.Ile513Asn)
12g.56004906T>CCA385297700SUOXc.1517T>C (p.Ile506Thr)
c.1538T>C (p.Ile513Thr)
12g.56004906T>GCA385297705SUOXc.1517T>G (p.Ile506Ser)
c.1538T>G (p.Ile513Ser)
12g.56004910_56004913delCA2038198081SUOXc.1521_1524del (p.Cys508ArgfsTer?)
c.1542_1545del (p.Cys515ArgfsTer?)
 ClinVar dbSNP gnomAD v4
12g.56004907T>ACA480180107SUOXc.1518T>A (p.Ile506=)
c.1539T>A (p.Ile513=)
 gnomAD v4
12g.56004907T>CCA480180108SUOXc.1518T>C (p.Ile506=)
c.1539T>C (p.Ile513=)
 dbSNP gnomAD v3 gnomAD v4
12g.56004907T>GCA385297710SUOXc.1518T>G (p.Ile506Met)
c.1539T>G (p.Ile513Met)
 dbSNP gnomAD v2 gnomAD v4
12g.56004907T=CA2038198082SUOXc.1518T= (p.Ile506=)
c.1539T= (p.Ile513=)
12g.56004908G>ACA385297723SUOXc.1519G>A (p.Val507Ile)
c.1540G>A (p.Val514Ile)
12g.56004908G>CCA385297720SUOXc.1519G>C (p.Val507Leu)
c.1540G>C (p.Val514Leu)
12g.56004908G>TCA385297716SUOXc.1519G>T (p.Val507Phe)
c.1540G>T (p.Val514Phe)
 gnomAD v4
12g.56004909T>ACA237605355SUOXc.1520T>A (p.Val507Asp)
c.1541T>A (p.Val514Asp)
 dbSNP gnomAD v3 gnomAD v4
12g.56004909T>CCA385297730SUOXc.1520T>C (p.Val507Ala)
c.1541T>C (p.Val514Ala)
12g.56004909T>GCA385297731SUOXc.1520T>G (p.Val507Gly)
c.1541T>G (p.Val514Gly)
12g.56004909T=CA2038198083SUOXc.1520T= (p.Val507=)
c.1541T= (p.Val514=)
12g.56004910T>ACA480180110SUOXc.1521T>A (p.Val507=)
c.1542T>A (p.Val514=)
12g.56004910T>CCA480180111SUOXc.1521T>C (p.Val507=)
c.1542T>C (p.Val514=)
12g.56004910T>GCA480180112SUOXc.1521T>G (p.Val507=)
c.1542T>G (p.Val514=)
12g.56004911T>ACA385297732SUOXc.1522T>A (p.Cys508Ser)
c.1543T>A (p.Cys515Ser)
12g.56004911T>CCA385297735SUOXc.1522T>C (p.Cys508Arg)
c.1543T>C (p.Cys515Arg)
 dbSNP gnomAD v4
12g.56004911T>GCA385297740SUOXc.1522T>G (p.Cys508Gly)
c.1543T>G (p.Cys515Gly)
12g.56004911T=CA2038198084SUOXc.1522T= (p.Cys508=)
c.1543T= (p.Cys515=)
12g.56004912G>ACA385297745SUOXc.1523G>A (p.Cys508Tyr)
c.1544G>A (p.Cys515Tyr)
 gnomAD v4
12g.56004912G>CCA385297751SUOXc.1523G>C (p.Cys508Ser)
c.1544G>C (p.Cys515Ser)
12g.56004912G=CA2038198085SUOXc.1523G= (p.Cys508=)
c.1544G= (p.Cys515=)
12g.56004912G>TCA385297750SUOXc.1523G>T (p.Cys508Phe)
c.1544G>T (p.Cys515Phe)
 dbSNP gnomAD v4
12g.56004913T>ACA385297752SUOXc.1524T>A (p.Cys508Ter)
c.1545T>A (p.Cys515Ter)
12g.56004913T>CCA480180114SUOXc.1524T>C (p.Cys508=)
c.1545T>C (p.Cys515=)
 gnomAD v4
12g.56004913T>GCA385297753SUOXc.1524T>G (p.Cys508Trp)
c.1545T>G (p.Cys515Trp)
12g.56004914A=CA2038198086SUOXc.1525A= (p.Lys509=)
c.1546A= (p.Lys516=)
12g.56004914A>CCA385297757SUOXc.1525A>C (p.Lys509Gln)
c.1546A>C (p.Lys516Gln)
12g.56004914A>GCA6621173SUOXc.1525A>G (p.Lys509Glu)
c.1546A>G (p.Lys516Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004914A>TCA385297765SUOXc.1525A>T (p.Lys509Ter)
c.1546A>T (p.Lys516Ter)
12g.56004915A>CCA385297773SUOXc.1526A>C (p.Lys509Thr)
c.1547A>C (p.Lys516Thr)
12g.56004915A>GCA385297777SUOXc.1526A>G (p.Lys509Arg)
c.1547A>G (p.Lys516Arg)
12g.56004915A>TCA385297787SUOXc.1526A>T (p.Lys509Met)
c.1547A>T (p.Lys516Met)
12g.56004916G>ACA6621174SUOXc.1527G>A (p.Lys509=)
c.1548G>A (p.Lys516=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004916G>CCA385297797SUOXc.1527G>C (p.Lys509Asn)
c.1548G>C (p.Lys516Asn)
12g.56004916G=CA2038198087SUOXc.1527G= (p.Lys509=)
c.1548G= (p.Lys516=)
12g.56004916G>TCA385297810SUOXc.1527G>T (p.Lys509Asn)
c.1548G>T (p.Lys516Asn)
12g.56004917G>ACA385297826SUOXc.1528G>A (p.Ala510Thr)
c.1549G>A (p.Ala517Thr)
 dbSNP
12g.56004917G>CCA385297820SUOXc.1528G>C (p.Ala510Pro)
c.1549G>C (p.Ala517Pro)
12g.56004917G=CA2038198088SUOXc.1528G= (p.Ala510=)
c.1549G= (p.Ala517=)
12g.56004917G>TCA385297819SUOXc.1528G>T (p.Ala510Ser)
c.1549G>T (p.Ala517Ser)
12g.56004918delCA2619249823SUOXc.1529del (p.Ala510ValfsTer?)
c.1550del (p.Ala517ValfsTer?)
 gnomAD v4
12g.56004918C>ACA385297831SUOXc.1529C>A (p.Ala510Asp)
c.1550C>A (p.Ala517Asp)
12g.56004918C>GCA385297841SUOXc.1529C>G (p.Ala510Gly)
c.1550C>G (p.Ala517Gly)
12g.56004918C>TCA385297848SUOXc.1529C>T (p.Ala510Val)
c.1550C>T (p.Ala517Val)
 gnomAD v4
12g.56004919T>ACA480180119SUOXc.1530T>A (p.Ala510=)
c.1551T>A (p.Ala517=)
12g.56004919T>CCA480180118SUOXc.1530T>C (p.Ala510=)
c.1551T>C (p.Ala517=)
12g.56004919T>GCA480180117SUOXc.1530T>G (p.Ala510=)
c.1551T>G (p.Ala517=)
12g.56004920G>ACA6621175SUOXc.1531G>A (p.Val511Met)
c.1552G>A (p.Val518Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004920G>CCA385297858SUOXc.1531G>C (p.Val511Leu)
c.1552G>C (p.Val518Leu)
12g.56004920G=CA2038198089SUOXc.1531G= (p.Val511=)
c.1552G= (p.Val518=)
12g.56004920G>TCA385297861SUOXc.1531G>T (p.Val511Leu)
c.1552G>T (p.Val518Leu)
12g.56004921T>ACA385297866SUOXc.1532T>A (p.Val511Glu)
c.1553T>A (p.Val518Glu)
12g.56004921T>CCA385297880SUOXc.1532T>C (p.Val511Ala)
c.1553T>C (p.Val518Ala)
12g.56004921T>GCA385297869SUOXc.1532T>G (p.Val511Gly)
c.1553T>G (p.Val518Gly)
12g.56004922G>ACA480180124SUOXc.1533G>A (p.Val511=)
c.1554G>A (p.Val518=)
 ClinVar dbSNP gnomAD v4
12g.56004922G>CCA480180123SUOXc.1533G>C (p.Val511=)
c.1554G>C (p.Val518=)
12g.56004922G=CA2038198090SUOXc.1533G= (p.Val511=)
c.1554G= (p.Val518=)
12g.56004922G>TCA480180122SUOXc.1533G>T (p.Val511=)
c.1554G>T (p.Val518=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004923G>ACA385297884SUOXc.1534G>A (p.Asp512Asn)
c.1555G>A (p.Asp519Asn)
12g.56004923G>CCA385297888SUOXc.1534G>C (p.Asp512His)
c.1555G>C (p.Asp519His)
12g.56004923G=CA2038198091SUOXc.1534G= (p.Asp512=)
c.1555G= (p.Asp519=)
12g.56004923G>TCA6621176SUOXc.1534G>T (p.Asp512Tyr)
c.1555G>T (p.Asp519Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004924A>CCA385297902SUOXc.1535A>C (p.Asp512Ala)
c.1556A>C (p.Asp519Ala)
12g.56004924A>GCA385297908SUOXc.1535A>G (p.Asp512Gly)
c.1556A>G (p.Asp519Gly)
12g.56004924A>TCA385297911SUOXc.1535A>T (p.Asp512Val)
c.1556A>T (p.Asp519Val)
 gnomAD v4
12g.56004925T>ACA385297918SUOXc.1536T>A (p.Asp512Glu)
c.1557T>A (p.Asp519Glu)
12g.56004925T>CCA480180128SUOXc.1536T>C (p.Asp512=)
c.1557T>C (p.Asp519=)
12g.56004925T>GCA385297922SUOXc.1536T>G (p.Asp512Glu)
c.1557T>G (p.Asp519Glu)
12g.56004926G>ACA385297931SUOXc.1537G>A (p.Asp513Asn)
c.1558G>A (p.Asp520Asn)
12g.56004926G>CCA385297938SUOXc.1537G>C (p.Asp513His)
c.1558G>C (p.Asp520His)
12g.56004926G>TCA385297940SUOXc.1537G>T (p.Asp513Tyr)
c.1558G>T (p.Asp520Tyr)
12g.56004927A>CCA385297948SUOXc.1538A>C (p.Asp513Ala)
c.1559A>C (p.Asp520Ala)
12g.56004927A>GCA385297956SUOXc.1538A>G (p.Asp513Gly)
c.1559A>G (p.Asp520Gly)
12g.56004927A>TCA385297953SUOXc.1538A>T (p.Asp513Val)
c.1559A>T (p.Asp520Val)
12g.56004928T>ACA385297960SUOXc.1539T>A (p.Asp513Glu)
c.1560T>A (p.Asp520Glu)
12g.56004928T>CCA480180129SUOXc.1539T>C (p.Asp513=)
c.1560T>C (p.Asp520=)
12g.56004928T>GCA385297963SUOXc.1539T>G (p.Asp513Glu)
c.1560T>G (p.Asp520Glu)
12g.56004929G>ACA385297968SUOXc.1540G>A (p.Gly514Ser)
c.1561G>A (p.Gly521Ser)
12g.56004929G>CCA385297985SUOXc.1540G>C (p.Gly514Arg)
c.1561G>C (p.Gly521Arg)
12g.56004929G>TCA385297996SUOXc.1540G>T (p.Gly514Cys)
c.1561G>T (p.Gly521Cys)
 gnomAD v4
12g.56004930G>ACA385298008SUOXc.1541G>A (p.Gly514Asp)
c.1562G>A (p.Gly521Asp)
12g.56004930G>CCA385298025SUOXc.1541G>C (p.Gly514Ala)
c.1562G>C (p.Gly521Ala)
12g.56004930G>TCA385298039SUOXc.1541G>T (p.Gly514Val)
c.1562G>T (p.Gly521Val)
12g.56004931T>ACA480180132SUOXc.1542T>A (p.Gly514=)
c.1563T>A (p.Gly521=)
 dbSNP gnomAD v2 gnomAD v4
12g.56004931T>CCA480180133SUOXc.1542T>C (p.Gly514=)
c.1563T>C (p.Gly521=)
12g.56004931T>GCA480180134SUOXc.1542T>G (p.Gly514=)
c.1563T>G (p.Gly521=)
12g.56004931T=CA2038198092SUOXc.1542T= (p.Gly514=)
c.1563T= (p.Gly521=)
12g.56004932T>ACA385298043SUOXc.1543T>A (p.Tyr515Asn)
c.1564T>A (p.Tyr522Asn)
12g.56004932T>CCA385298059SUOXc.1543T>C (p.Tyr515His)
c.1564T>C (p.Tyr522His)
 dbSNP gnomAD v4
12g.56004932T>GCA385298065SUOXc.1543T>G (p.Tyr515Asp)
c.1564T>G (p.Tyr522Asp)
12g.56004932T=CA2038198093SUOXc.1543T= (p.Tyr515=)
c.1564T= (p.Tyr522=)
12g.56004933A>CCA385298076SUOXc.1544A>C (p.Tyr515Ser)
c.1565A>C (p.Tyr522Ser)
12g.56004933A>GCA385298074SUOXc.1544A>G (p.Tyr515Cys)
c.1565A>G (p.Tyr522Cys)
12g.56004933A>TCA385298071SUOXc.1544A>T (p.Tyr515Phe)
c.1565A>T (p.Tyr522Phe)
12g.56004934C>ACA385298083SUOXc.1545C>A (p.Tyr515Ter)
c.1566C>A (p.Tyr522Ter)
12g.56004934C>GCA385298089SUOXc.1545C>G (p.Tyr515Ter)
c.1566C>G (p.Tyr522Ter)
 ClinVar
12g.56004934C>TCA480180138SUOXc.1545C>T (p.Tyr515=)
c.1566C>T (p.Tyr522=)
 dbSNP gnomAD v4
12g.56004935A>CCA385298094SUOXc.1546A>C (p.Asn516His)
c.1567A>C (p.Asn523His)
12g.56004935A>GCA385298099SUOXc.1546A>G (p.Asn516Asp)
c.1567A>G (p.Asn523Asp)
12g.56004935A>TCA385298102SUOXc.1546A>T (p.Asn516Tyr)
c.1567A>T (p.Asn523Tyr)
12g.56004936A=CA2038198094SUOXc.1547A= (p.Asn516=)
c.1568A= (p.Asn523=)
12g.56004936A>CCA385298107SUOXc.1547A>C (p.Asn516Thr)
c.1568A>C (p.Asn523Thr)
12g.56004936A>GCA385298112SUOXc.1547A>G (p.Asn516Ser)
c.1568A>G (p.Asn523Ser)
 dbSNP gnomAD v4
12g.56004936A>TCA385298117SUOXc.1547A>T (p.Asn516Ile)
c.1568A>T (p.Asn523Ile)
12g.56004937T>ACA385298119SUOXc.1548T>A (p.Asn516Lys)
c.1569T>A (p.Asn523Lys)
12g.56004937T>CCA237605360SUOXc.1548T>C (p.Asn516=)
c.1569T>C (p.Asn523=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004937T>GCA385298121SUOXc.1548T>G (p.Asn516Lys)
c.1569T>G (p.Asn523Lys)
12g.56004937T=CA2038198095SUOXc.1548T= (p.Asn516=)
c.1569T= (p.Asn523=)
12g.56004938G>ACA385298124SUOXc.1549G>A (p.Val517Met)
c.1570G>A (p.Val524Met)
 dbSNP gnomAD v2 gnomAD v4
12g.56004938G>CCA385298149SUOXc.1549G>C (p.Val517Leu)
c.1570G>C (p.Val524Leu)
12g.56004938G=CA2038198096SUOXc.1549G= (p.Val517=)
c.1570G= (p.Val524=)
12g.56004938G>TCA385298159SUOXc.1549G>T (p.Val517Leu)
c.1570G>T (p.Val524Leu)
12g.56004939T>ACA385298192SUOXc.1550T>A (p.Val517Glu)
c.1571T>A (p.Val524Glu)
12g.56004939T>CCA385298185SUOXc.1550T>C (p.Val517Ala)
c.1571T>C (p.Val524Ala)
12g.56004939T>GCA385298179SUOXc.1550T>G (p.Val517Gly)
c.1571T>G (p.Val524Gly)
12g.56004940G>ACA480180144SUOXc.1551G>A (p.Val517=)
c.1572G>A (p.Val524=)
12g.56004940G>CCA480180146SUOXc.1551G>C (p.Val517=)
c.1572G>C (p.Val524=)
12g.56004940G=CA2038198097SUOXc.1551G= (p.Val517=)
c.1572G= (p.Val524=)
12g.56004940G>TCA480180147SUOXc.1551G>T (p.Val517=)
c.1572G>T (p.Val524=)
 dbSNP
12g.56004941C>ACA385298203SUOXc.1552C>A (p.Gln518Lys)
c.1573C>A (p.Gln525Lys)
12g.56004941C>GCA385298196SUOXc.1552C>G (p.Gln518Glu)
c.1573C>G (p.Gln525Glu)
12g.56004941C>TCA385298210SUOXc.1552C>T (p.Gln518Ter)
c.1573C>T (p.Gln525Ter)
 ClinVar
12g.56004942A=CA2038198098SUOXc.1553A= (p.Gln518=)
c.1574A= (p.Gln525=)
12g.56004942A>CCA385298219SUOXc.1553A>C (p.Gln518Pro)
c.1574A>C (p.Gln525Pro)
12g.56004942A>GCA6621177SUOXc.1553A>G (p.Gln518Arg)
c.1574A>G (p.Gln525Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004942A>TCA385298234SUOXc.1553A>T (p.Gln518Leu)
c.1574A>T (p.Gln525Leu)
12g.56004943G>ACA480180148SUOXc.1554G>A (p.Gln518=)
c.1575G>A (p.Gln525=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.56004943G>CCA385298239SUOXc.1554G>C (p.Gln518His)
c.1575G>C (p.Gln525His)
12g.56004943G=CA2038198099SUOXc.1554G= (p.Gln518=)
c.1575G= (p.Gln525=)
12g.56004943G>TCA385298240SUOXc.1554G>T (p.Gln518His)
c.1575G>T (p.Gln525His)
12g.56004944C>ACA6621178SUOXc.1555C>A (p.Pro519Thr)
c.1576C>A (p.Pro526Thr)
 dbSNP ExAC gnomAD v2
12g.56004944C=CA2038198100SUOXc.1555C= (p.Pro519=)
c.1576C= (p.Pro526=)
12g.56004944C>GCA385298248SUOXc.1555C>G (p.Pro519Ala)
c.1576C>G (p.Pro526Ala)
12g.56004944C>TCA385298243SUOXc.1555C>T (p.Pro519Ser)
c.1576C>T (p.Pro526Ser)
12g.56004945C>ACA385298275SUOXc.1556C>A (p.Pro519Gln)
c.1577C>A (p.Pro526Gln)
 COSMIC
12g.56004945C>GCA385298281SUOXc.1556C>G (p.Pro519Arg)
c.1577C>G (p.Pro526Arg)
 ClinVar dbSNP
12g.56004945C>TCA385298283SUOXc.1556C>T (p.Pro519Leu)
c.1577C>T (p.Pro526Leu)
12g.56004946A>CCA480180153SUOXc.1557A>C (p.Pro519=)
c.1578A>C (p.Pro526=)
12g.56004946A>GCA480180152SUOXc.1557A>G (p.Pro519=)
c.1578A>G (p.Pro526=)
12g.56004946A>TCA480180151SUOXc.1557A>T (p.Pro519=)
c.1578A>T (p.Pro526=)
12g.56004947G>ACA385298284SUOXc.1558G>A (p.Asp520Asn)
c.1579G>A (p.Asp527Asn)
12g.56004947G>CCA385298285SUOXc.1558G>C (p.Asp520His)
c.1579G>C (p.Asp527His)
12g.56004947G>TCA385298287SUOXc.1558G>T (p.Asp520Tyr)
c.1579G>T (p.Asp527Tyr)
12g.56004948A>CCA385298291SUOXc.1559A>C (p.Asp520Ala)
c.1580A>C (p.Asp527Ala)
12g.56004948A>GCA385298310SUOXc.1559A>G (p.Asp520Gly)
c.1580A>G (p.Asp527Gly)
12g.56004948A>TCA385298302SUOXc.1559A>T (p.Asp520Val)
c.1580A>T (p.Asp527Val)
 gnomAD v4
12g.56004949C>ACA385298315SUOXc.1560C>A (p.Asp520Glu)
c.1581C>A (p.Asp527Glu)
12g.56004949C=CA2038198101SUOXc.1560C= (p.Asp520=)
c.1581C= (p.Asp527=)
12g.56004949C>GCA6621179SUOXc.1560C>G (p.Asp520Glu)
c.1581C>G (p.Asp527Glu)
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.56004949C>TCA480180155SUOXc.1560C>T (p.Asp520=)
c.1581C>T (p.Asp527=)
12g.56004950A>CCA385298323SUOXc.1561A>C (p.Thr521Pro)
c.1582A>C (p.Thr528Pro)
12g.56004950A>GCA385298325SUOXc.1561A>G (p.Thr521Ala)
c.1582A>G (p.Thr528Ala)
12g.56004950A>TCA385298330SUOXc.1561A>T (p.Thr521Ser)
c.1582A>T (p.Thr528Ser)
12g.56004951C>ACA385298337SUOXc.1562C>A (p.Thr521Asn)
c.1583C>A (p.Thr528Asn)
 gnomAD v4
12g.56004951C>GCA385298341SUOXc.1562C>G (p.Thr521Ser)
c.1583C>G (p.Thr528Ser)
12g.56004951C>TCA385298342SUOXc.1562C>T (p.Thr521Ile)
c.1583C>T (p.Thr528Ile)
12g.56004952C>ACA6621181SUOXc.1563C>A (p.Thr521=)
c.1584C>A (p.Thr528=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004952C=CA2038198102SUOXc.1563C= (p.Thr521=)
c.1584C= (p.Thr528=)
12g.56004952C>GCA480180159SUOXc.1563C>G (p.Thr521=)
c.1584C>G (p.Thr528=)
12g.56004952C>TCA6621180SUOXc.1563C>T (p.Thr521=)
c.1584C>T (p.Thr528=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.56004953G>ACA6621182SUOXc.1564G>A (p.Val522Met)
c.1585G>A (p.Val529Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004953G>CCA385298366SUOXc.1564G>C (p.Val522Leu)
c.1585G>C (p.Val529Leu)
 gnomAD v4
12g.56004953G=CA2038198103SUOXc.1564G= (p.Val522=)
c.1585G= (p.Val529=)
12g.56004953G>TCA385298361SUOXc.1564G>T (p.Val522Leu)
c.1585G>T (p.Val529Leu)
12g.56004954_56004955delCA2726241797SUOXc.1565_1566del (p.Val522GlyfsTer?)
c.1586_1587del (p.Val529GlyfsTer?)
 dbSNP
12g.56004954T>ACA385298380SUOXc.1565T>A (p.Val522Glu)
c.1586T>A (p.Val529Glu)
12g.56004954T>CCA385298383SUOXc.1565T>C (p.Val522Ala)
c.1586T>C (p.Val529Ala)
 ClinVar dbSNP gnomAD v4
12g.56004954T>GCA385298391SUOXc.1565T>G (p.Val522Gly)
c.1586T>G (p.Val529Gly)
12g.56004955G>ACA6621183SUOXc.1566G>A (p.Val522=)
c.1587G>A (p.Val529=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004955G>CCA480180162SUOXc.1566G>C (p.Val522=)
c.1587G>C (p.Val529=)
12g.56004955G=CA2038198104SUOXc.1566G= (p.Val522=)
c.1587G= (p.Val529=)
12g.56004955G>TCA480180163SUOXc.1566G>T (p.Val522=)
c.1587G>T (p.Val529=)
 gnomAD v4
12g.56004956G>ACA385298413SUOXc.1567G>A (p.Ala523Thr)
c.1588G>A (p.Ala530Thr)
 gnomAD v4
12g.56004956G>CCA385298414SUOXc.1567G>C (p.Ala523Pro)
c.1588G>C (p.Ala530Pro)
12g.56004956G>TCA385298428SUOXc.1567G>T (p.Ala523Ser)
c.1588G>T (p.Ala530Ser)
12g.56004957C>ACA385298431SUOXc.1568C>A (p.Ala523Asp)
c.1589C>A (p.Ala530Asp)
12g.56004957C>GCA385298433SUOXc.1568C>G (p.Ala523Gly)
c.1589C>G (p.Ala530Gly)
12g.56004957C>TCA385298437SUOXc.1568C>T (p.Ala523Val)
c.1589C>T (p.Ala530Val)
12g.56004958C>ACA480180164SUOXc.1569C>A (p.Ala523=)
c.1590C>A (p.Ala530=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004958C=CA2038198105SUOXc.1569C= (p.Ala523=)
c.1590C= (p.Ala530=)
12g.56004958C>GCA480180167SUOXc.1569C>G (p.Ala523=)
c.1590C>G (p.Ala530=)
 gnomAD v4
12g.56004958C>TCA480180166SUOXc.1569C>T (p.Ala523=)
c.1590C>T (p.Ala530=)
12g.56004959C>ACA385298447SUOXc.1570C>A (p.Pro524Thr)
c.1591C>A (p.Pro531Thr)
12g.56004959C>GCA385298462SUOXc.1570C>G (p.Pro524Ala)
c.1591C>G (p.Pro531Ala)
12g.56004959C>TCA385298481SUOXc.1570C>T (p.Pro524Ser)
c.1591C>T (p.Pro531Ser)
 gnomAD v4
12g.56004960C>ACA385298496SUOXc.1571C>A (p.Pro524Gln)
c.1592C>A (p.Pro531Gln)
12g.56004960C=CA2038198106SUOXc.1571C= (p.Pro524=)
c.1592C= (p.Pro531=)
12g.56004960C>GCA385298488SUOXc.1571C>G (p.Pro524Arg)
c.1592C>G (p.Pro531Arg)
12g.56004960C>TCA385298492SUOXc.1571C>T (p.Pro524Leu)
c.1592C>T (p.Pro531Leu)
 dbSNP gnomAD v2 gnomAD v4
12g.56004961A>CCA480180168SUOXc.1572A>C (p.Pro524=)
c.1593A>C (p.Pro531=)
12g.56004961A>GCA480180169SUOXc.1572A>G (p.Pro524=)
c.1593A>G (p.Pro531=)
12g.56004961A>TCA480180170SUOXc.1572A>T (p.Pro524=)
c.1593A>T (p.Pro531=)
 gnomAD v4
12g.56004962A=CA2038198107SUOXc.1573A= (p.Ile525=)
c.1594A= (p.Ile532=)
12g.56004962A>CCA385298501SUOXc.1573A>C (p.Ile525Leu)
c.1594A>C (p.Ile532Leu)
12g.56004962A>GCA237605366SUOXc.1573A>G (p.Ile525Val)
c.1594A>G (p.Ile532Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.56004962A>TCA385298515SUOXc.1573A>T (p.Ile525Phe)
c.1594A>T (p.Ile532Phe)
12g.56004963T>ACA385298526SUOXc.1574T>A (p.Ile525Asn)
c.1595T>A (p.Ile532Asn)
12g.56004963T>CCA6621184SUOXc.1574T>C (p.Ile525Thr)
c.1595T>C (p.Ile532Thr)
 dbSNP ExAC gnomAD v2
12g.56004963T>GCA385298535SUOXc.1574T>G (p.Ile525Ser)
c.1595T>G (p.Ile532Ser)
12g.56004963T=CA2038198108SUOXc.1574T= (p.Ile525=)
c.1595T= (p.Ile532=)
12g.56004964C>ACA480180176SUOXc.1575C>A (p.Ile525=)
c.1596C>A (p.Ile532=)
12g.56004964C>GCA385298538SUOXc.1575C>G (p.Ile525Met)
c.1596C>G (p.Ile532Met)
12g.56004964C>TCA480180179SUOXc.1575C>T (p.Ile525=)
c.1596C>T (p.Ile532=)
12g.56004965T>ACA385298544SUOXc.1576T>A (p.Trp526Arg)
c.1597T>A (p.Trp533Arg)
12g.56004965T>CCA385298553SUOXc.1576T>C (p.Trp526Arg)
c.1597T>C (p.Trp533Arg)
 dbSNP gnomAD v3 gnomAD v4
12g.56004965T>GCA385298574SUOXc.1576T>G (p.Trp526Gly)
c.1597T>G (p.Trp533Gly)
12g.56004965T=CA2038198109SUOXc.1576T= (p.Trp526=)
c.1597T= (p.Trp533=)
12g.56004966G>ACA385298576SUOXc.1577G>A (p.Trp526Ter)
c.1598G>A (p.Trp533Ter)
 gnomAD v4
12g.56004966G>CCA385298577SUOXc.1577G>C (p.Trp526Ser)
c.1598G>C (p.Trp533Ser)
12g.56004966G>TCA385298581SUOXc.1577G>T (p.Trp526Leu)
c.1598G>T (p.Trp533Leu)
12g.56004967G>ACA385298600SUOXc.1578G>A (p.Trp526Ter)
c.1599G>A (p.Trp533Ter)
 ClinVar
12g.56004967G>CCA385298603SUOXc.1578G>C (p.Trp526Cys)
c.1599G>C (p.Trp533Cys)
 gnomAD v4
12g.56004967G>TCA385298591SUOXc.1578G>T (p.Trp526Cys)
c.1599G>T (p.Trp533Cys)
12g.56004968A>CCA385298606SUOXc.1579A>C (p.Asn527His)
c.1600A>C (p.Asn534His)
12g.56004968A>GCA385298608SUOXc.1579A>G (p.Asn527Asp)
c.1600A>G (p.Asn534Asp)
12g.56004968A>TCA385298618SUOXc.1579A>T (p.Asn527Tyr)
c.1600A>T (p.Asn534Tyr)
12g.56004969A>CCA385298623SUOXc.1580A>C (p.Asn527Thr)
c.1601A>C (p.Asn534Thr)
12g.56004969A>GCA385298624SUOXc.1580A>G (p.Asn527Ser)
c.1601A>G (p.Asn534Ser)
12g.56004969A>TCA385298625SUOXc.1580A>T (p.Asn527Ile)
c.1601A>T (p.Asn534Ile)
12g.56004970C>ACA385298634SUOXc.1581C>A (p.Asn527Lys)
c.1602C>A (p.Asn534Lys)
 dbSNP gnomAD v3 gnomAD v4
12g.56004970C=CA2038198110SUOXc.1581C= (p.Asn527=)
c.1602C= (p.Asn534=)
12g.56004970C>GCA385298638SUOXc.1581C>G (p.Asn527Lys)
c.1602C>G (p.Asn534Lys)
12g.56004970C>TCA480180196SUOXc.1581C>T (p.Asn527=)
c.1602C>T (p.Asn534=)
12g.56004971C>ACA385298656SUOXc.1582C>A (p.Leu528Met)
c.1603C>A (p.Leu535Met)
12g.56004971C=CA2038198111SUOXc.1582C= (p.Leu528=)
c.1603C= (p.Leu535=)
12g.56004971C>GCA385298659SUOXc.1582C>G (p.Leu528Val)
c.1603C>G (p.Leu535Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004971C>TCA480180200SUOXc.1582C>T (p.Leu528=)
c.1603C>T (p.Leu535=)
12g.56004972T>ACA385298669SUOXc.1583T>A (p.Leu528Gln)
c.1604T>A (p.Leu535Gln)
12g.56004972T>CCA385298671SUOXc.1583T>C (p.Leu528Pro)
c.1604T>C (p.Leu535Pro)
 ClinVar dbSNP
12g.56004972T>GCA385298672SUOXc.1583T>G (p.Leu528Arg)
c.1604T>G (p.Leu535Arg)
12g.56004972T=CA2038198112SUOXc.1583T= (p.Leu528=)
c.1604T= (p.Leu535=)
12g.56004973G>ACA480180206SUOXc.1584G>A (p.Leu528=)
c.1605G>A (p.Leu535=)
 dbSNP
12g.56004973G>CCA480180205SUOXc.1584G>C (p.Leu528=)
c.1605G>C (p.Leu535=)
12g.56004973G=CA2038198113SUOXc.1584G= (p.Leu528=)
c.1605G= (p.Leu535=)
12g.56004973G>TCA480180208SUOXc.1584G>T (p.Leu528=)
c.1605G>T (p.Leu535=)
 dbSNP gnomAD v2 gnomAD v4
12g.56004974C>ACA480180210SUOXc.1585C>A (p.Arg529=)
c.1606C>A (p.Arg536=)
12g.56004974C=CA2038198114SUOXc.1585C= (p.Arg529=)
c.1606C= (p.Arg536=)
12g.56004974C>GCA385298674SUOXc.1585C>G (p.Arg529Gly)
c.1606C>G (p.Arg536Gly)
12g.56004974C>TCA6621185SUOXc.1585C>T (p.Arg529Ter)
c.1606C>T (p.Arg536Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.56004975G>ACA6621186SUOXc.1586G>A (p.Arg529Gln)
c.1607G>A (p.Arg536Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004975G>CCA385298694SUOXc.1586G>C (p.Arg529Pro)
c.1607G>C (p.Arg536Pro)
12g.56004975G=CA2038198115SUOXc.1586G= (p.Arg529=)
c.1607G= (p.Arg536=)
12g.56004975G>TCA385298689SUOXc.1586G>T (p.Arg529Leu)
c.1607G>T (p.Arg536Leu)
12g.56004976A>CCA480180219SUOXc.1587A>C (p.Arg529=)
c.1608A>C (p.Arg536=)
12g.56004976A>GCA480180221SUOXc.1587A>G (p.Arg529=)
c.1608A>G (p.Arg536=)
12g.56004976A>TCA480180222SUOXc.1587A>T (p.Arg529=)
c.1608A>T (p.Arg536=)
12g.56004977G>ACA385298707SUOXc.1588G>A (p.Gly530Ser)
c.1609G>A (p.Gly537Ser)
 gnomAD v4
12g.56004977G>CCA385298710SUOXc.1588G>C (p.Gly530Arg)
c.1609G>C (p.Gly537Arg)
12g.56004977G>TCA385298712SUOXc.1588G>T (p.Gly530Cys)
c.1609G>T (p.Gly537Cys)
12g.56004978G>ACA116471SUOXc.1589G>A (p.Gly530Asp)
c.1610G>A (p.Gly537Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.56004978G>CCA385298719SUOXc.1589G>C (p.Gly530Ala)
c.1610G>C (p.Gly537Ala)
12g.56004978G=CA2038198116SUOXc.1589G= (p.Gly530=)
c.1610G= (p.Gly537=)
12g.56004978G>TCA385298720SUOXc.1589G>T (p.Gly530Val)
c.1610G>T (p.Gly537Val)
 gnomAD v4
12g.56004979T>ACA480180229SUOXc.1590T>A (p.Gly530=)
c.1611T>A (p.Gly537=)
12g.56004979T>CCA480180231SUOXc.1590T>C (p.Gly530=)
c.1611T>C (p.Gly537=)
 dbSNP
12g.56004979T>GCA480180232SUOXc.1590T>G (p.Gly530=)
c.1611T>G (p.Gly537=)
12g.56004979T=CA2038198117SUOXc.1590T= (p.Gly530=)
c.1611T= (p.Gly537=)
12g.56004980G>ACA6621187SUOXc.1591G>A (p.Val531Ile)
c.1612G>A (p.Val538Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004980G>CCA385298725SUOXc.1591G>C (p.Val531Leu)
c.1612G>C (p.Val538Leu)
12g.56004980G=CA2038198118SUOXc.1591G= (p.Val531=)
c.1612G= (p.Val538=)
12g.56004980G>TCA385298727SUOXc.1591G>T (p.Val531Phe)
c.1612G>T (p.Val538Phe)
12g.56004981T>ACA6621188SUOXc.1592T>A (p.Val531Asp)
c.1613T>A (p.Val538Asp)
 dbSNP ExAC
12g.56004981T>CCA385298731SUOXc.1592T>C (p.Val531Ala)
c.1613T>C (p.Val538Ala)
12g.56004981T>GCA385298738SUOXc.1592T>G (p.Val531Gly)
c.1613T>G (p.Val538Gly)
12g.56004981T=CA2038198119SUOXc.1592T= (p.Val531=)
c.1613T= (p.Val538=)
12g.56004982T>ACA480180241SUOXc.1593T>A (p.Val531=)
c.1614T>A (p.Val538=)
12g.56004982T>CCA480180243SUOXc.1593T>C (p.Val531=)
c.1614T>C (p.Val538=)
12g.56004982T>GCA480180244SUOXc.1593T>G (p.Val531=)
c.1614T>G (p.Val538=)
 ClinVar dbSNP
12g.56004982T=CA2038198120SUOXc.1593T= (p.Val531=)
c.1614T= (p.Val538=)
12g.56004983C>ACA385298760SUOXc.1594C>A (p.Leu532Ile)
c.1615C>A (p.Leu539Ile)
 gnomAD v4
12g.56004983C=CA2038198121SUOXc.1594C= (p.Leu532=)
c.1615C= (p.Leu539=)
12g.56004983C>GCA385298745SUOXc.1594C>G (p.Leu532Val)
c.1615C>G (p.Leu539Val)
12g.56004983C>TCA237605372SUOXc.1594C>T (p.Leu532Phe)
c.1615C>T (p.Leu539Phe)
 dbSNP
12g.56004984T>ACA385298763SUOXc.1595T>A (p.Leu532His)
c.1616T>A (p.Leu539His)
12g.56004984T>CCA385298764SUOXc.1595T>C (p.Leu532Pro)
c.1616T>C (p.Leu539Pro)
12g.56004984T>GCA385298765SUOXc.1595T>G (p.Leu532Arg)
c.1616T>G (p.Leu539Arg)
12g.56004985C>ACA480180252SUOXc.1596C>A (p.Leu532=)
c.1617C>A (p.Leu539=)
12g.56004985C=CA2038198122SUOXc.1596C= (p.Leu532=)
c.1617C= (p.Leu539=)
12g.56004985C>GCA480180254SUOXc.1596C>G (p.Leu532=)
c.1617C>G (p.Leu539=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004985C>TCA480180255SUOXc.1596C>T (p.Leu532=)
c.1617C>T (p.Leu539=)
 gnomAD v4
12g.56004986A>CCA385298767SUOXc.1597A>C (p.Ser533Arg)
c.1618A>C (p.Ser540Arg)
12g.56004986A>GCA385298769SUOXc.1597A>G (p.Ser533Gly)
c.1618A>G (p.Ser540Gly)
12g.56004986A>TCA385298772SUOXc.1597A>T (p.Ser533Cys)
c.1618A>T (p.Ser540Cys)
12g.56004987G>ACA385298777SUOXc.1598G>A (p.Ser533Asn)
c.1619G>A (p.Ser540Asn)
12g.56004987G>CCA385298773SUOXc.1598G>C (p.Ser533Thr)
c.1619G>C (p.Ser540Thr)
12g.56004987G>TCA385298774SUOXc.1598G>T (p.Ser533Ile)
c.1619G>T (p.Ser540Ile)
12g.56004988C>ACA385298781SUOXc.1599C>A (p.Ser533Arg)
c.1620C>A (p.Ser540Arg)
12g.56004988C=CA2038198123SUOXc.1599C= (p.Ser533=)
c.1620C= (p.Ser540=)
12g.56004988C>GCA385298786SUOXc.1599C>G (p.Ser533Arg)
c.1620C>G (p.Ser540Arg)
 dbSNP gnomAD v2 gnomAD v4
12g.56004988C>TCA480180263SUOXc.1599C>T (p.Ser533=)
c.1620C>T (p.Ser540=)
 dbSNP gnomAD v2 gnomAD v4
12g.56004990_56005008delCA480180265SUOXc.1601_1619del (p.Asn534MetfsTer?)
c.1622_1640del (p.Asn541MetfsTer?)
12g.56004989A>CCA385298789SUOXc.1600A>C (p.Asn534His)
c.1621A>C (p.Asn541His)
12g.56004989A>GCA385298794SUOXc.1600A>G (p.Asn534Asp)
c.1621A>G (p.Asn541Asp)
12g.56004989A>TCA385298801SUOXc.1600A>T (p.Asn534Tyr)
c.1621A>T (p.Asn541Tyr)
12g.56004990A>CCA385298808SUOXc.1601A>C (p.Asn534Thr)
c.1622A>C (p.Asn541Thr)
12g.56004990A>GCA385298806SUOXc.1601A>G (p.Asn534Ser)
c.1622A>G (p.Asn541Ser)
12g.56004990A>TCA385298807SUOXc.1601A>T (p.Asn534Ile)
c.1622A>T (p.Asn541Ile)
12g.56004991T>ACA385298814SUOXc.1602T>A (p.Asn534Lys)
c.1623T>A (p.Asn541Lys)
12g.56004991T>CCA480180276SUOXc.1602T>C (p.Asn534=)
c.1623T>C (p.Asn541=)
12g.56004991T>GCA385298820SUOXc.1602T>G (p.Asn534Lys)
c.1623T>G (p.Asn541Lys)
12g.56004992G>ACA385298833SUOXc.1603G>A (p.Ala535Thr)
c.1624G>A (p.Ala542Thr)
12g.56004992G>CCA385298841SUOXc.1603G>C (p.Ala535Pro)
c.1624G>C (p.Ala542Pro)
12g.56004992G>TCA385298845SUOXc.1603G>T (p.Ala535Ser)
c.1624G>T (p.Ala542Ser)
12g.56004993C>ACA385298855SUOXc.1604C>A (p.Ala535Asp)
c.1625C>A (p.Ala542Asp)
12g.56004993C=CA2038198124SUOXc.1604C= (p.Ala535=)
c.1625C= (p.Ala542=)
12g.56004993C>GCA385298856SUOXc.1604C>G (p.Ala535Gly)
c.1625C>G (p.Ala542Gly)
 dbSNP gnomAD v3 gnomAD v4
12g.56004993C>TCA385298859SUOXc.1604C>T (p.Ala535Val)
c.1625C>T (p.Ala542Val)
 gnomAD v4
12g.56004994C>ACA480180285SUOXc.1605C>A (p.Ala535=)
c.1626C>A (p.Ala542=)
12g.56004994C=CA2038198125SUOXc.1605C= (p.Ala535=)
c.1626C= (p.Ala542=)
12g.56004994C>GCA6621189SUOXc.1605C>G (p.Ala535=)
c.1626C>G (p.Ala542=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004994C>TCA480180287SUOXc.1605C>T (p.Ala535=)
c.1626C>T (p.Ala542=)
 gnomAD v4
12g.56004995T>ACA385298900SUOXc.1606T>A (p.Trp536Arg)
c.1627T>A (p.Trp543Arg)
12g.56004995T>CCA385298901SUOXc.1606T>C (p.Trp536Arg)
c.1627T>C (p.Trp543Arg)
12g.56004995T>GCA385298903SUOXc.1606T>G (p.Trp536Gly)
c.1627T>G (p.Trp543Gly)
12g.56004996G>ACA385298912SUOXc.1607G>A (p.Trp536Ter)
c.1628G>A (p.Trp543Ter)
12g.56004996G>CCA385298926SUOXc.1607G>C (p.Trp536Ser)
c.1628G>C (p.Trp543Ser)
12g.56004996G>TCA385298921SUOXc.1607G>T (p.Trp536Leu)
c.1628G>T (p.Trp543Leu)
12g.56004997G>ACA385298930SUOXc.1608G>A (p.Trp536Ter)
c.1629G>A (p.Trp543Ter)
12g.56004997G>CCA385298937SUOXc.1608G>C (p.Trp536Cys)
c.1629G>C (p.Trp543Cys)
12g.56004997G>TCA385298935SUOXc.1608G>T (p.Trp536Cys)
c.1629G>T (p.Trp543Cys)
 COSMIC
12g.56004998C>ACA385298938SUOXc.1609C>A (p.His537Asn)
c.1630C>A (p.His544Asn)
12g.56004998C>GCA385298941SUOXc.1609C>G (p.His537Asp)
c.1630C>G (p.His544Asp)
12g.56004998C>TCA385298946SUOXc.1609C>T (p.His537Tyr)
c.1630C>T (p.His544Tyr)
12g.56004999A>CCA385298952SUOXc.1610A>C (p.His537Pro)
c.1631A>C (p.His544Pro)
12g.56004999A>GCA385298957SUOXc.1610A>G (p.His537Arg)
c.1631A>G (p.His544Arg)
 gnomAD v4
12g.56004999A>TCA385298963SUOXc.1610A>T (p.His537Leu)
c.1631A>T (p.His544Leu)
12g.56005000T>ACA385298982SUOXc.1611T>A (p.His537Gln)
c.1632T>A (p.His544Gln)
12g.56005000T>CCA480180296SUOXc.1611T>C (p.His537=)
c.1632T>C (p.His544=)
12g.56005000T>GCA385298992SUOXc.1611T>G (p.His537Gln)
c.1632T>G (p.His544Gln)
12g.56005001C>ACA385298994SUOXc.1612C>A (p.Arg538Ser)
c.1633C>A (p.Arg545Ser)
12g.56005001C=CA2038198126SUOXc.1612C= (p.Arg538=)
c.1633C= (p.Arg545=)
12g.56005001C>GCA385298995SUOXc.1612C>G (p.Arg538Gly)
c.1633C>G (p.Arg545Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.56005001C>TCA6621190SUOXc.1612C>T (p.Arg538Cys)
c.1633C>T (p.Arg545Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.56005002G>ACA6621191SUOXc.1613G>A (p.Arg538His)
c.1634G>A (p.Arg545His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.56005002G>CCA385299002SUOXc.1613G>C (p.Arg538Pro)
c.1634G>C (p.Arg545Pro)
 dbSNP gnomAD v4
12g.56005002G=CA2038198127SUOXc.1613G= (p.Arg538=)
c.1634G= (p.Arg545=)
12g.56005002G>TCA385299000SUOXc.1613G>T (p.Arg538Leu)
c.1634G>T (p.Arg545Leu)
12g.56005003T>ACA480180297SUOXc.1614T>A (p.Arg538=)
c.1635T>A (p.Arg545=)
12g.56005003T>CCA480180299SUOXc.1614T>C (p.Arg538=)
c.1635T>C (p.Arg545=)
12g.56005003T>GCA480180301SUOXc.1614T>G (p.Arg538=)
c.1635T>G (p.Arg545=)
12g.56005004G>ACA385299017SUOXc.1615G>A (p.Val539Ile)
c.1636G>A (p.Val546Ile)
 dbSNP gnomAD v4
12g.56005004G>CCA385299020SUOXc.1615G>C (p.Val539Leu)
c.1636G>C (p.Val546Leu)
12g.56005004G=CA2038198128SUOXc.1615G= (p.Val539=)
c.1636G= (p.Val546=)
12g.56005004G>TCA385299028SUOXc.1615G>T (p.Val539Phe)
c.1636G>T (p.Val546Phe)

Number of alleles fetched