Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
12g.56005005T>ACA385299031SUOXc.1616T>A (p.Val539Asp)
c.1637T>A (p.Val546Asp)
12g.56005005T>CCA385299032SUOXc.1616T>C (p.Val539Ala)
c.1637T>C (p.Val546Ala)
12g.56005005T>GCA385299036SUOXc.1616T>G (p.Val539Gly)
c.1637T>G (p.Val546Gly)
12g.56005006C>ACA480180309SUOXc.1617C>A (p.Val539=)
c.1638C>A (p.Val546=)
12g.56005006C>GCA480180311SUOXc.1617C>G (p.Val539=)
c.1638C>G (p.Val546=)
12g.56005006C>TCA480180313SUOXc.1617C>T (p.Val539=)
c.1638C>T (p.Val546=)
COSMIC
12g.56005007C>ACA385299039SUOXc.1618C>A (p.His540Asn)
c.1639C>A (p.His547Asn)
12g.56005007C>GCA385299041SUOXc.1618C>G (p.His540Asp)
c.1639C>G (p.His547Asp)
12g.56005007C>TCA385299044SUOXc.1618C>T (p.His540Tyr)
c.1639C>T (p.His547Tyr)
12g.56005008A=CA2038198129SUOXc.1619A= (p.His540=)
c.1640A= (p.His547=)
12g.56005008A>CCA385299054SUOXc.1619A>C (p.His540Pro)
c.1640A>C (p.His547Pro)
12g.56005008A>GCA6621192SUOXc.1619A>G (p.His540Arg)
c.1640A>G (p.His547Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56005008A>TCA385299085SUOXc.1619A>T (p.His540Leu)
c.1640A>T (p.His547Leu)
12g.56005009T>ACA385299088SUOXc.1620T>A (p.His540Gln)
c.1641T>A (p.His547Gln)
12g.56005009T>CCA480180323SUOXc.1620T>C (p.His540=)
c.1641T>C (p.His547=)
ClinVar dbSNP
12g.56005009T>GCA385299090SUOXc.1620T>G (p.His540Gln)
c.1641T>G (p.His547Gln)
12g.56005009T=CA2038198130SUOXc.1620T= (p.His540=)
c.1641T= (p.His547=)
12g.56005010G>ACA385299095SUOXc.1621G>A (p.Val541Ile)
c.1642G>A (p.Val548Ile)
gnomAD v4
12g.56005010G>CCA385299100SUOXc.1621G>C (p.Val541Leu)
c.1642G>C (p.Val548Leu)
12g.56005010G>TCA385299101SUOXc.1621G>T (p.Val541Phe)
c.1642G>T (p.Val548Phe)
12g.56005011T>ACA385299102SUOXc.1622T>A (p.Val541Asp)
c.1643T>A (p.Val548Asp)
12g.56005011T>CCA385299103SUOXc.1622T>C (p.Val541Ala)
c.1643T>C (p.Val548Ala)
12g.56005011T>GCA385299108SUOXc.1622T>G (p.Val541Gly)
c.1643T>G (p.Val548Gly)
12g.56005012C>ACA480180331SUOXc.1623C>A (p.Val541=)
c.1644C>A (p.Val548=)
12g.56005012C=CA2038198131SUOXc.1623C= (p.Val541=)
c.1644C= (p.Val548=)
12g.56005012C>GCA480180333SUOXc.1623C>G (p.Val541=)
c.1644C>G (p.Val548=)
12g.56005012C>TCA6621193SUOXc.1623C>T (p.Val541=)
c.1644C>T (p.Val548=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.56005013T>ACA385299126SUOXc.1624T>A (p.Tyr542Asn)
c.1645T>A (p.Tyr549Asn)
12g.56005013T>CCA385299130SUOXc.1624T>C (p.Tyr542His)
c.1645T>C (p.Tyr549His)
12g.56005013T>GCA385299133SUOXc.1624T>G (p.Tyr542Asp)
c.1645T>G (p.Tyr549Asp)
12g.56005014_56005015delCA2619249962SUOXc.1625_1626del (p.Tyr542CysfsTer?)
c.1646_1647del (p.Tyr549CysfsTer?)
gnomAD v4
12g.56005014A=CA2038198132SUOXc.1625A= (p.Tyr542=)
c.1646A= (p.Tyr549=)
12g.56005014A>CCA385299134SUOXc.1625A>C (p.Tyr542Ser)
c.1646A>C (p.Tyr549Ser)
12g.56005014A>GCA6621194SUOXc.1625A>G (p.Tyr542Cys)
c.1646A>G (p.Tyr549Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56005014A>TCA385299139SUOXc.1625A>T (p.Tyr542Phe)
c.1646A>T (p.Tyr549Phe)
12g.56005015T>ACA385299153SUOXc.1626T>A (p.Tyr542Ter)
c.1647T>A (p.Tyr549Ter)
12g.56005015T>CCA480180345SUOXc.1626T>C (p.Tyr542=)
c.1647T>C (p.Tyr549=)
12g.56005015T>GCA385299149SUOXc.1626T>G (p.Tyr542Ter)
c.1647T>G (p.Tyr549Ter)
12g.56005016G>ACA385299170SUOXc.1627G>A (p.Val543Ile)
c.1648G>A (p.Val550Ile)
12g.56005016G>CCA385299175SUOXc.1627G>C (p.Val543Leu)
c.1648G>C (p.Val550Leu)
12g.56005016G>TCA385299182SUOXc.1627G>T (p.Val543Phe)
c.1648G>T (p.Val550Phe)
gnomAD v4
12g.56005017T>ACA385299188SUOXc.1628T>A (p.Val543Asp)
c.1649T>A (p.Val550Asp)
12g.56005017T>CCA385299194SUOXc.1628T>C (p.Val543Ala)
c.1649T>C (p.Val550Ala)
12g.56005017T>GCA385299197SUOXc.1628T>G (p.Val543Gly)
c.1649T>G (p.Val550Gly)
12g.56005018C>ACA480180354SUOXc.1629C>A (p.Val543=)
c.1650C>A (p.Val550=)
12g.56005018C>GCA480180356SUOXc.1629C>G (p.Val543=)
c.1650C>G (p.Val550=)
12g.56005018C>TCA480180357SUOXc.1629C>T (p.Val543=)
c.1650C>T (p.Val550=)
12g.56005019T>ACA385299200SUOXc.1630T>A (p.Ser544Thr)
c.1651T>A (p.Ser551Thr)
12g.56005019T>CCA385299204SUOXc.1630T>C (p.Ser544Pro)
c.1651T>C (p.Ser551Pro)
12g.56005019T>GCA385299206SUOXc.1630T>G (p.Ser544Ala)
c.1651T>G (p.Ser551Ala)
12g.56005019T=CA2038198133SUOXc.1630T= (p.Ser544=)
c.1651T= (p.Ser551=)
12g.56005020C>ACA385299213SUOXc.1631C>A (p.Ser544Tyr)
c.1652C>A (p.Ser551Tyr)
12g.56005020C>GCA385299217SUOXc.1631C>G (p.Ser544Cys)
c.1652C>G (p.Ser551Cys)
12g.56005020C>TCA385299218SUOXc.1631C>T (p.Ser544Phe)
c.1652C>T (p.Ser551Phe)
12g.56005023dupCA2038198134SUOXc.1634dup (p.Ter546MetextTer?)
c.1655dup (p.Ter553MetextTer?)
dbSNP
12g.56005021C>ACA480180366SUOXc.1632C>A (p.Ser544=)
c.1653C>A (p.Ser551=)
gnomAD v4
12g.56005021C>GCA480180370SUOXc.1632C>G (p.Ser544=)
c.1653C>G (p.Ser551=)
12g.56005021C>TCA480180368SUOXc.1632C>T (p.Ser544=)
c.1653C>T (p.Ser551=)
ClinVar dbSNP gnomAD v4
12g.56005022C>ACA385299222SUOXc.1633C>A (p.Pro545Thr)
c.1654C>A (p.Pro552Thr)
gnomAD v4
12g.56005022C>GCA385299229SUOXc.1633C>G (p.Pro545Ala)
c.1654C>G (p.Pro552Ala)
12g.56005022C>TCA385299226SUOXc.1633C>T (p.Pro545Ser)
c.1654C>T (p.Pro552Ser)
gnomAD v4
12g.56005023C>ACA385299241SUOXc.1634C>A (p.Pro545Gln)
c.1655C>A (p.Pro552Gln)
12g.56005023C>GCA385299248SUOXc.1634C>G (p.Pro545Arg)
c.1655C>G (p.Pro552Arg)
12g.56005023C>TCA385299245SUOXc.1634C>T (p.Pro545Leu)
c.1655C>T (p.Pro552Leu)
COSMIC
12g.56005024A=CA2038198135SUOXc.1635A= (p.Pro545=)
c.1656A= (p.Pro552=)
12g.56005024A>CCA480180379SUOXc.1635A>C (p.Pro545=)
c.1656A>C (p.Pro552=)
12g.56005024A>GCA480180380SUOXc.1635A>G (p.Pro545=)
c.1656A>G (p.Pro552=)
dbSNP gnomAD v4
12g.56005024A>TCA480180382SUOXc.1635A>T (p.Pro545=)
c.1656A>T (p.Pro552=)
12g.56005025T>ACA6621195SUOXc.1636T>A (p.Ter546Arg)
c.1657T>A (p.Ter553Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56005025T>CCA385299253SUOXc.1636T>C (p.Ter546Arg)
c.1657T>C (p.Ter553Arg)
gnomAD v4
12g.56005025T>GCA385299250SUOXc.1636T>G (p.Ter546Gly)
c.1657T>G (p.Ter553Gly)
12g.56005025T=CA2038198136SUOXc.1636T= (p.Ter546=)
c.1657T= (p.Ter553=)
12g.56005026G>ACA480180385SUOXc.1637G>A (p.Ter546=)
c.1658G>A (p.Ter553=)
12g.56005026G>CCA385299255SUOXc.1637G>C (p.Ter546Ser)
c.1658G>C (p.Ter553Ser)
dbSNP gnomAD v2 gnomAD v4
12g.56005026G=CA2038198137SUOXc.1637G= (p.Ter546=)
c.1658G= (p.Ter553=)
12g.56005026G>TCA385299258SUOXc.1637G>T (p.Ter546Leu)
c.1658G>T (p.Ter553Leu)
12g.56005027A>CCA385299259SUOXc.1638A>C (p.Ter546Cys)
c.1659A>C (p.Ter553Cys)
12g.56005027A>GCA385299260SUOXc.1638A>G (p.Ter546Trp)
c.1659A>G (p.Ter553Trp)
12g.56005027A>TCA385299262SUOXc.1638A>T (p.Ter546Cys)
c.1659A>T (p.Ter553Cys)
12g.56005028G>ACA605434624SUOXc.*1G>A (n.*1G>A)
dbSNP gnomAD v2 gnomAD v4
12g.56005028G=CA2038198138SUOXc.*1G= (n.*1G=)
12g.56005028G>TCA2619249986SUOXc.*1G>T (n.*1G>T)
gnomAD v4
12g.56005029C>ACA2619249988SUOXc.*2C>A (n.*2C>A)
gnomAD v4
12g.56005029C>GCA2619249989SUOXc.*2C>G (n.*2C>G)
gnomAD v4
12g.56005029C>TCA2619249992SUOXc.*2C>T (n.*2C>T)
gnomAD v4
12g.56005030A=CA2038198139SUOXc.*3A= (n.*3A=)
12g.56005030A>GCA6621196SUOXc.*3A>G (n.*3A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.56005031T>ACA6621197SUOXc.*4T>A (n.*4T>A)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.56005031T=CA2038198140SUOXc.*4T= (n.*4T=)
12g.56005033G>CCA690169184SUOXc.*6G>C (n.*6G>C)
dbSNP gnomAD v4
12g.56005033G=CA2038198141SUOXc.*6G= (n.*6G=)
12g.56005034A>GCA2575186100SUOXc.*7A>G (n.*7A>G)
gnomAD v4
12g.56005034A>TCA2619250001SUOXc.*7A>T (n.*7A>T)
gnomAD v4
12g.56005035A>GCA2619250002SUOXc.*8A>G (n.*8A>G)
gnomAD v4
12g.56005038G>ACA6621198SUOXc.*11G>A (n.*11G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56005038G=CA2038198142SUOXc.*11G= (n.*11G=)
12g.56005040G>CCA6621199SUOXc.*13G>C (n.*13G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56005040G=CA2038198143SUOXc.*13G= (n.*13G=)
12g.56005041C>ACA2619250011SUOXc.*14C>A (n.*14C>A)
gnomAD v4
12g.56005041C=CA2038198144SUOXc.*14C= (n.*14C=)
12g.56005041C>TCA605434633SUOXc.*14C>T (n.*14C>T)
dbSNP gnomAD v2
12g.56005042C>GCA2619250013SUOXc.*15C>G (n.*15C>G)
gnomAD v4

Number of alleles fetched