Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.56004770G>ACA385294183SUOXc.1381G>A (p.Asp461Asn)
c.1402G>A (p.Asp468Asn)
12g.56004770G>CCA385294184SUOXc.1381G>C (p.Asp461His)
c.1402G>C (p.Asp468His)
 gnomAD v4 COSMIC
12g.56004770G>TCA385294187SUOXc.1381G>T (p.Asp461Tyr)
c.1402G>T (p.Asp468Tyr)
12g.56004771A=CA2038198026SUOXc.1382A= (p.Asp461=)
c.1403A= (p.Asp468=)
12g.56004771A>CCA385294201SUOXc.1382A>C (p.Asp461Ala)
c.1403A>C (p.Asp468Ala)
12g.56004771A>GCA385294205SUOXc.1382A>G (p.Asp461Gly)
c.1403A>G (p.Asp468Gly)
 dbSNP gnomAD v2 gnomAD v4
12g.56004771A>TCA6621161SUOXc.1382A>T (p.Asp461Val)
c.1403A>T (p.Asp468Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004772T>ACA385294212SUOXc.1383T>A (p.Asp461Glu)
c.1404T>A (p.Asp468Glu)
12g.56004772T>CCA480366547SUOXc.1383T>C (p.Asp461=)
c.1404T>C (p.Asp468=)
 dbSNP
12g.56004772T>GCA385294213SUOXc.1383T>G (p.Asp461Glu)
c.1404T>G (p.Asp468Glu)
12g.56004772T=CA2038198027SUOXc.1383T= (p.Asp461=)
c.1404T= (p.Asp468=)
12g.56004773G>ACA385294218SUOXc.1384G>A (p.Val462Met)
c.1405G>A (p.Val469Met)
12g.56004773G>CCA385294221SUOXc.1384G>C (p.Val462Leu)
c.1405G>C (p.Val469Leu)
 dbSNP
12g.56004773G=CA2038198028SUOXc.1384G= (p.Val462=)
c.1405G= (p.Val469=)
12g.56004773G>TCA385294235SUOXc.1384G>T (p.Val462Leu)
c.1405G>T (p.Val469Leu)
12g.56004774T>ACA385294245SUOXc.1385T>A (p.Val462Glu)
c.1406T>A (p.Val469Glu)
12g.56004774T>CCA385294259SUOXc.1385T>C (p.Val462Ala)
c.1406T>C (p.Val469Ala)
 gnomAD v4
12g.56004774T>GCA385294248SUOXc.1385T>G (p.Val462Gly)
c.1406T>G (p.Val469Gly)
12g.56004775G>ACA480366549SUOXc.1386G>A (p.Val462=)
c.1407G>A (p.Val469=)
 gnomAD v4
12g.56004775G>CCA480366550SUOXc.1386G>C (p.Val462=)
c.1407G>C (p.Val469=)
12g.56004775G>TCA480366551SUOXc.1386G>T (p.Val462=)
c.1407G>T (p.Val469=)
12g.56004775_56004777delinsGTCCA2038198029SUOXc.1386_1388delinsGTC (p.Val462=)
c.1407_1409delinsGTC (p.Val469=)
12g.56004776T>ACA385294265SUOXc.1387T>A (p.Ser463Thr)
c.1408T>A (p.Ser470Thr)
12g.56004776T>CCA385294277SUOXc.1387T>C (p.Ser463Pro)
c.1408T>C (p.Ser470Pro)
 dbSNP
12g.56004776T>GCA385294269SUOXc.1387T>G (p.Ser463Ala)
c.1408T>G (p.Ser470Ala)
12g.56004776T=CA2038198030SUOXc.1387T= (p.Ser463=)
c.1408T= (p.Ser470=)
12g.56004779_56004780delCA915948433SUOXc.1390_1391del (p.Leu464GlyfsTer10)
c.1411_1412del (p.Leu471GlyfsTer10)
 ClinVar dbSNP
12g.56004777C>ACA385294286SUOXc.1388C>A (p.Ser463Tyr)
c.1409C>A (p.Ser470Tyr)
12g.56004777C=CA2038198031SUOXc.1388C= (p.Ser463=)
c.1409C= (p.Ser470=)
12g.56004777C>GCA385294296SUOXc.1388C>G (p.Ser463Cys)
c.1409C>G (p.Ser470Cys)
12g.56004777C>TCA385294306SUOXc.1388C>T (p.Ser463Phe)
c.1409C>T (p.Ser470Phe)
 ClinVar dbSNP gnomAD v4
12g.56004778T>ACA480366554SUOXc.1389T>A (p.Ser463=)
c.1410T>A (p.Ser470=)
12g.56004778T>CCA6621162SUOXc.1389T>C (p.Ser463=)
c.1410T>C (p.Ser470=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004778T>GCA480366555SUOXc.1389T>G (p.Ser463=)
c.1410T>G (p.Ser470=)
12g.56004778T=CA2038198032SUOXc.1389T= (p.Ser463=)
c.1410T= (p.Ser470=)
12g.56004779C>ACA385294319SUOXc.1390C>A (p.Leu464Met)
c.1411C>A (p.Leu471Met)
12g.56004779C>GCA385294327SUOXc.1390C>G (p.Leu464Val)
c.1411C>G (p.Leu471Val)
12g.56004779C>TCA480366556SUOXc.1390C>T (p.Leu464=)
c.1411C>T (p.Leu471=)
12g.56004780T>ACA385294342SUOXc.1391T>A (p.Leu464Gln)
c.1412T>A (p.Leu471Gln)
12g.56004780T>CCA385294345SUOXc.1391T>C (p.Leu464Pro)
c.1412T>C (p.Leu471Pro)
12g.56004780T>GCA385294352SUOXc.1391T>G (p.Leu464Arg)
c.1412T>G (p.Leu471Arg)
 dbSNP gnomAD v3 gnomAD v4
12g.56004780T=CA2038198033SUOXc.1391T= (p.Leu464=)
c.1412T= (p.Leu471=)
12g.56004781G>ACA480366557SUOXc.1392G>A (p.Leu464=)
c.1413G>A (p.Leu471=)
12g.56004781G>CCA480366558SUOXc.1392G>C (p.Leu464=)
c.1413G>C (p.Leu471=)
12g.56004781G>TCA480366559SUOXc.1392G>T (p.Leu464=)
c.1413G>T (p.Leu471=)
 gnomAD v4
12g.56004782G>ACA385294357SUOXc.1393G>A (p.Asp465Asn)
c.1414G>A (p.Asp472Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004782G>CCA385294361SUOXc.1393G>C (p.Asp465His)
c.1414G>C (p.Asp472His)
12g.56004782G=CA2038198034SUOXc.1393G= (p.Asp465=)
c.1414G= (p.Asp472=)
12g.56004782G>TCA385294367SUOXc.1393G>T (p.Asp465Tyr)
c.1414G>T (p.Asp472Tyr)
 gnomAD v4
12g.56004783A>CCA385294373SUOXc.1394A>C (p.Asp465Ala)
c.1415A>C (p.Asp472Ala)
12g.56004783A>GCA385294371SUOXc.1394A>G (p.Asp465Gly)
c.1415A>G (p.Asp472Gly)
12g.56004783A>TCA385294372SUOXc.1394A>T (p.Asp465Val)
c.1415A>T (p.Asp472Val)
12g.56004784T>ACA385294377SUOXc.1395T>A (p.Asp465Glu)
c.1416T>A (p.Asp472Glu)
12g.56004784T>CCA480366562SUOXc.1395T>C (p.Asp465=)
c.1416T>C (p.Asp472=)
12g.56004784T>GCA385294379SUOXc.1395T>G (p.Asp465Glu)
c.1416T>G (p.Asp472Glu)
12g.56004785G>ACA385294385SUOXc.1396G>A (p.Gly466Arg)
c.1417G>A (p.Gly473Arg)
 gnomAD v4
12g.56004785G>CCA385294394SUOXc.1396G>C (p.Gly466Arg)
c.1417G>C (p.Gly473Arg)
12g.56004785G>TCA385294404SUOXc.1396G>T (p.Gly466Trp)
c.1417G>T (p.Gly473Trp)
12g.56004786G>ACA385294408SUOXc.1397G>A (p.Gly466Glu)
c.1418G>A (p.Gly473Glu)
12g.56004786G>CCA385294409SUOXc.1397G>C (p.Gly466Ala)
c.1418G>C (p.Gly473Ala)
12g.56004786G>TCA385294411SUOXc.1397G>T (p.Gly466Val)
c.1418G>T (p.Gly473Val)
12g.56004787G>ACA480366568SUOXc.1398G>A (p.Gly466=)
c.1419G>A (p.Gly473=)
12g.56004787G>CCA480366569SUOXc.1398G>C (p.Gly466=)
c.1419G>C (p.Gly473=)
 gnomAD v4
12g.56004787G>TCA480366570SUOXc.1398G>T (p.Gly466=)
c.1419G>T (p.Gly473=)
12g.56004788G>ACA385294415SUOXc.1399G>A (p.Gly467Ser)
c.1420G>A (p.Gly474Ser)
12g.56004788G>CCA385294418SUOXc.1399G>C (p.Gly467Arg)
c.1420G>C (p.Gly474Arg)
12g.56004788G>TCA385294421SUOXc.1399G>T (p.Gly467Cys)
c.1420G>T (p.Gly474Cys)
 gnomAD v4
12g.56004789G>ACA385294428SUOXc.1400G>A (p.Gly467Asp)
c.1421G>A (p.Gly474Asp)
12g.56004789G>CCA385294426SUOXc.1400G>C (p.Gly467Ala)
c.1421G>C (p.Gly474Ala)
12g.56004789G>TCA385294425SUOXc.1400G>T (p.Gly467Val)
c.1421G>T (p.Gly474Val)
12g.56004790C>ACA480366572SUOXc.1401C>A (p.Gly467=)
c.1422C>A (p.Gly474=)
12g.56004790C>GCA480366573SUOXc.1401C>G (p.Gly467=)
c.1422C>G (p.Gly474=)
12g.56004790C>TCA480366574SUOXc.1401C>T (p.Gly467=)
c.1422C>T (p.Gly474=)
12g.56004790_56004806delinsCCTAACCTGGCAGGTGGCA2038198035SUOXc.1401_1417delinsCCTAACCTGGCAGGTGG (p.Gly467=)
c.1422_1438delinsCCTAACCTGGCAGGTGG (p.Gly474=)
12g.56004791C>ACA385294433SUOXc.1402C>A (p.Leu468Ile)
c.1423C>A (p.Leu475Ile)
12g.56004791C>GCA385294435SUOXc.1402C>G (p.Leu468Val)
c.1423C>G (p.Leu475Val)
12g.56004791C>TCA480366576SUOXc.1402C>T (p.Leu468=)
c.1423C>T (p.Leu475=)
12g.56004795_56004810delCA605403833SUOXc.1406_1421del (p.Thr469SerfsTer20)
c.1427_1442del (p.Thr476SerfsTer20)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004792T>ACA385294440SUOXc.1403T>A (p.Leu468Gln)
c.1424T>A (p.Leu475Gln)
 dbSNP
12g.56004792T>CCA385294441SUOXc.1403T>C (p.Leu468Pro)
c.1424T>C (p.Leu475Pro)
12g.56004792T>GCA385294442SUOXc.1403T>G (p.Leu468Arg)
c.1424T>G (p.Leu475Arg)
 gnomAD v4
12g.56004792T=CA2038198036SUOXc.1403T= (p.Leu468=)
c.1424T= (p.Leu475=)
12g.56004793A>CCA480366579SUOXc.1404A>C (p.Leu468=)
c.1425A>C (p.Leu475=)
12g.56004793A>GCA480366578SUOXc.1404A>G (p.Leu468=)
c.1425A>G (p.Leu475=)
12g.56004793A>TCA480366577SUOXc.1404A>T (p.Leu468=)
c.1425A>T (p.Leu475=)
12g.56004794delCA2619249630SUOXc.1405del (p.Thr469ProfsTer25)
c.1426del (p.Thr476ProfsTer25)
 gnomAD v4
12g.56004794A>CCA385294456SUOXc.1405A>C (p.Thr469Pro)
c.1426A>C (p.Thr476Pro)
12g.56004794A>GCA385294448SUOXc.1405A>G (p.Thr469Ala)
c.1426A>G (p.Thr476Ala)
12g.56004794A>TCA385294444SUOXc.1405A>T (p.Thr469Ser)
c.1426A>T (p.Thr476Ser)
12g.56004795C>ACA385294460SUOXc.1406C>A (p.Thr469Asn)
c.1427C>A (p.Thr476Asn)
12g.56004795C=CA2038198037SUOXc.1406C= (p.Thr469=)
c.1427C= (p.Thr476=)
12g.56004795C>GCA385294471SUOXc.1406C>G (p.Thr469Ser)
c.1427C>G (p.Thr476Ser)
12g.56004795C>TCA385294475SUOXc.1406C>T (p.Thr469Ile)
c.1427C>T (p.Thr476Ile)
 dbSNP gnomAD v2 gnomAD v4
12g.56004796C>ACA480366580SUOXc.1407C>A (p.Thr469=)
c.1428C>A (p.Thr476=)
12g.56004796C>GCA480366581SUOXc.1407C>G (p.Thr469=)
c.1428C>G (p.Thr476=)
 ClinVar gnomAD v4
12g.56004796C>TCA480366582SUOXc.1407C>T (p.Thr469=)
c.1428C>T (p.Thr476=)
12g.56004797T>ACA385294476SUOXc.1408T>A (p.Trp470Arg)
c.1429T>A (p.Trp477Arg)
12g.56004797T>CCA385294477SUOXc.1408T>C (p.Trp470Arg)
c.1429T>C (p.Trp477Arg)
 gnomAD v4
12g.56004797T>GCA385294497SUOXc.1408T>G (p.Trp470Gly)
c.1429T>G (p.Trp477Gly)
12g.56004798G>ACA385294502SUOXc.1409G>A (p.Trp470Ter)
c.1430G>A (p.Trp477Ter)
12g.56004798G>CCA385294508SUOXc.1409G>C (p.Trp470Ser)
c.1430G>C (p.Trp477Ser)
12g.56004798G>TCA385294506SUOXc.1409G>T (p.Trp470Leu)
c.1430G>T (p.Trp477Leu)
12g.56004799G>ACA385294517SUOXc.1410G>A (p.Trp470Ter)
c.1431G>A (p.Trp477Ter)
12g.56004799G>CCA385294521SUOXc.1410G>C (p.Trp470Cys)
c.1431G>C (p.Trp477Cys)
12g.56004799G>TCA385294528SUOXc.1410G>T (p.Trp470Cys)
c.1431G>T (p.Trp477Cys)
12g.56004800delCA2739272084SUOXc.1411del (p.Gln471ArgfsTer23)
c.1432del (p.Gln478ArgfsTer23)
 ClinVar
12g.56004800C>ACA385294534SUOXc.1411C>A (p.Gln471Lys)
c.1432C>A (p.Gln478Lys)
12g.56004800C>GCA385294541SUOXc.1411C>G (p.Gln471Glu)
c.1432C>G (p.Gln478Glu)
12g.56004800C>TCA385294552SUOXc.1411C>T (p.Gln471Ter)
c.1432C>T (p.Gln478Ter)
12g.56004801A>CCA385294562SUOXc.1412A>C (p.Gln471Pro)
c.1433A>C (p.Gln478Pro)
12g.56004801A>GCA385294571SUOXc.1412A>G (p.Gln471Arg)
c.1433A>G (p.Gln478Arg)
 gnomAD v4
12g.56004801A>TCA385294574SUOXc.1412A>T (p.Gln471Leu)
c.1433A>T (p.Gln478Leu)
 gnomAD v4
12g.56004802G>ACA480366583SUOXc.1413G>A (p.Gln471=)
c.1434G>A (p.Gln478=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004802G>CCA385294579SUOXc.1413G>C (p.Gln471His)
c.1434G>C (p.Gln478His)
12g.56004802G=CA2038198038SUOXc.1413G= (p.Gln471=)
c.1434G= (p.Gln478=)
12g.56004802G>TCA385294581SUOXc.1413G>T (p.Gln471His)
c.1434G>T (p.Gln478His)
12g.56004803G>ACA385294587SUOXc.1414G>A (p.Val472Met)
c.1435G>A (p.Val479Met)
12g.56004803G>CCA385294588SUOXc.1414G>C (p.Val472Leu)
c.1435G>C (p.Val479Leu)
12g.56004803G>TCA385294586SUOXc.1414G>T (p.Val472Leu)
c.1435G>T (p.Val479Leu)
12g.56004804T>ACA385294594SUOXc.1415T>A (p.Val472Glu)
c.1436T>A (p.Val479Glu)
12g.56004804T>CCA385294610SUOXc.1415T>C (p.Val472Ala)
c.1436T>C (p.Val479Ala)
12g.56004804T>GCA385294598SUOXc.1415T>G (p.Val472Gly)
c.1436T>G (p.Val479Gly)
 dbSNP
12g.56004804T=CA2038198039SUOXc.1415T= (p.Val472=)
c.1436T= (p.Val479=)
12g.56004805G>ACA480366584SUOXc.1416G>A (p.Val472=)
c.1437G>A (p.Val479=)
 gnomAD v4
12g.56004805G>CCA480366585SUOXc.1416G>C (p.Val472=)
c.1437G>C (p.Val479=)
12g.56004805G>TCA480366586SUOXc.1416G>T (p.Val472=)
c.1437G>T (p.Val479=)
12g.56004806G>ACA385294615SUOXc.1417G>A (p.Ala473Thr)
c.1438G>A (p.Ala480Thr)
12g.56004806G>CCA385294622SUOXc.1417G>C (p.Ala473Pro)
c.1438G>C (p.Ala480Pro)
12g.56004806G>TCA385294618SUOXc.1417G>T (p.Ala473Ser)
c.1438G>T (p.Ala480Ser)
12g.56004807C>ACA385294626SUOXc.1418C>A (p.Ala473Asp)
c.1439C>A (p.Ala480Asp)
12g.56004807C>GCA385294628SUOXc.1418C>G (p.Ala473Gly)
c.1439C>G (p.Ala480Gly)
12g.56004807C>TCA385294627SUOXc.1418C>T (p.Ala473Val)
c.1439C>T (p.Ala480Val)
 gnomAD v4
12g.56004808T>ACA480366587SUOXc.1419T>A (p.Ala473=)
c.1440T>A (p.Ala480=)
12g.56004808T>CCA480366588SUOXc.1419T>C (p.Ala473=)
c.1440T>C (p.Ala480=)
12g.56004808T>GCA480366589SUOXc.1419T>G (p.Ala473=)
c.1440T>G (p.Ala480=)
12g.56004809A>CCA385294629SUOXc.1420A>C (p.Lys474Gln)
c.1441A>C (p.Lys481Gln)
12g.56004809A>GCA385294634SUOXc.1420A>G (p.Lys474Glu)
c.1441A>G (p.Lys481Glu)
12g.56004809A>TCA385294641SUOXc.1420A>T (p.Lys474Ter)
c.1441A>T (p.Lys481Ter)
12g.56004810A>CCA385294648SUOXc.1421A>C (p.Lys474Thr)
c.1442A>C (p.Lys481Thr)
12g.56004810A>GCA385294649SUOXc.1421A>G (p.Lys474Arg)
c.1442A>G (p.Lys481Arg)
12g.56004810A>TCA385294652SUOXc.1421A>T (p.Lys474Met)
c.1442A>T (p.Lys481Met)
12g.56004811G>ACA480366590SUOXc.1422G>A (p.Lys474=)
c.1443G>A (p.Lys481=)
12g.56004811G>CCA385294657SUOXc.1422G>C (p.Lys474Asn)
c.1443G>C (p.Lys481Asn)
12g.56004811G>TCA385294661SUOXc.1422G>T (p.Lys474Asn)
c.1443G>T (p.Lys481Asn)
12g.56004812C>ACA385294681SUOXc.1423C>A (p.Leu475Met)
c.1444C>A (p.Leu482Met)
12g.56004812C>GCA385294686SUOXc.1423C>G (p.Leu475Val)
c.1444C>G (p.Leu482Val)
12g.56004812C>TCA480366591SUOXc.1423C>T (p.Leu475=)
c.1444C>T (p.Leu482=)
12g.56004813T>ACA385294715SUOXc.1424T>A (p.Leu475Gln)
c.1445T>A (p.Leu482Gln)
12g.56004813T>CCA385294689SUOXc.1424T>C (p.Leu475Pro)
c.1445T>C (p.Leu482Pro)
12g.56004813T>GCA385294688SUOXc.1424T>G (p.Leu475Arg)
c.1445T>G (p.Leu482Arg)
12g.56004814G>ACA480366592SUOXc.1425G>A (p.Leu475=)
c.1446G>A (p.Leu482=)
 gnomAD v4
12g.56004814G>CCA480366594SUOXc.1425G>C (p.Leu475=)
c.1446G>C (p.Leu482=)
12g.56004814G>TCA480366593SUOXc.1425G>T (p.Leu475=)
c.1446G>T (p.Leu482=)
12g.56004815G>ACA6621163SUOXc.1426G>A (p.Asp476Asn)
c.1447G>A (p.Asp483Asn)
 dbSNP ExAC gnomAD v2
12g.56004815G>CCA385294724SUOXc.1426G>C (p.Asp476His)
c.1447G>C (p.Asp483His)
 ClinVar
12g.56004815G=CA2038198040SUOXc.1426G= (p.Asp476=)
c.1447G= (p.Asp483=)
12g.56004815G>TCA385294743SUOXc.1426G>T (p.Asp476Tyr)
c.1447G>T (p.Asp483Tyr)
12g.56004816A>CCA385294752SUOXc.1427A>C (p.Asp476Ala)
c.1448A>C (p.Asp483Ala)
12g.56004816A>GCA385294756SUOXc.1427A>G (p.Asp476Gly)
c.1448A>G (p.Asp483Gly)
12g.56004816A>TCA385294769SUOXc.1427A>T (p.Asp476Val)
c.1448A>T (p.Asp483Val)
12g.56004817T>ACA385294770SUOXc.1428T>A (p.Asp476Glu)
c.1449T>A (p.Asp483Glu)
 ClinVar
12g.56004817T>CCA480366595SUOXc.1428T>C (p.Asp476=)
c.1449T>C (p.Asp483=)
12g.56004817T>GCA237605341SUOXc.1428T>G (p.Asp476Glu)
c.1449T>G (p.Asp483Glu)
 dbSNP
12g.56004817T=CA2038198041SUOXc.1428T= (p.Asp476=)
c.1449T= (p.Asp483=)
12g.56004818G>ACA385294773SUOXc.1429G>A (p.Gly477Arg)
c.1450G>A (p.Gly484Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.56004818G>CCA385294774SUOXc.1429G>C (p.Gly477Arg)
c.1450G>C (p.Gly484Arg)
12g.56004818G=CA2038198042SUOXc.1429G= (p.Gly477=)
c.1450G= (p.Gly484=)
12g.56004818G>TCA385294776SUOXc.1429G>T (p.Gly477Ter)
c.1450G>T (p.Gly484Ter)
12g.56004819G>ACA385294797SUOXc.1430G>A (p.Gly477Glu)
c.1451G>A (p.Gly484Glu)
12g.56004819G>CCA385294815SUOXc.1430G>C (p.Gly477Ala)
c.1451G>C (p.Gly484Ala)
12g.56004819G>TCA385294784SUOXc.1430G>T (p.Gly477Val)
c.1451G>T (p.Gly484Val)
 gnomAD v4
12g.56004820A>CCA480366596SUOXc.1431A>C (p.Gly477=)
c.1452A>C (p.Gly484=)
12g.56004820A>GCA480366597SUOXc.1431A>G (p.Gly477=)
c.1452A>G (p.Gly484=)
12g.56004820A>TCA480366598SUOXc.1431A>T (p.Gly477=)
c.1452A>T (p.Gly484=)
12g.56004821G>ACA385294816SUOXc.1432G>A (p.Glu478Lys)
c.1453G>A (p.Glu485Lys)
 dbSNP gnomAD v4
12g.56004821G>CCA385294817SUOXc.1432G>C (p.Glu478Gln)
c.1453G>C (p.Glu485Gln)
12g.56004821G=CA2038198043SUOXc.1432G= (p.Glu478=)
c.1453G= (p.Glu485=)
12g.56004821G>TCA385294822SUOXc.1432G>T (p.Glu478Ter)
c.1453G>T (p.Glu485Ter)
12g.56004822A>CCA385294825SUOXc.1433A>C (p.Glu478Ala)
c.1454A>C (p.Glu485Ala)
12g.56004822A>GCA385294828SUOXc.1433A>G (p.Glu478Gly)
c.1454A>G (p.Glu485Gly)
12g.56004822A>TCA385294851SUOXc.1433A>T (p.Glu478Val)
c.1454A>T (p.Glu485Val)
12g.56004823G>ACA480366599SUOXc.1434G>A (p.Glu478=)
c.1455G>A (p.Glu485=)
12g.56004823G>CCA385294854SUOXc.1434G>C (p.Glu478Asp)
c.1455G>C (p.Glu485Asp)
 ClinVar dbSNP gnomAD v4
12g.56004823G>TCA385294859SUOXc.1434G>T (p.Glu478Asp)
c.1455G>T (p.Glu485Asp)
 COSMIC
12g.56004824G>ACA385294863SUOXc.1435G>A (p.Glu479Lys)
c.1456G>A (p.Glu486Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.56004824G>CCA385294869SUOXc.1435G>C (p.Glu479Gln)
c.1456G>C (p.Glu486Gln)
12g.56004824G=CA2038198044SUOXc.1435G= (p.Glu479=)
c.1456G= (p.Glu486=)
12g.56004824G>TCA385294874SUOXc.1435G>T (p.Glu479Ter)
c.1456G>T (p.Glu486Ter)
12g.56004825A>CCA385294876SUOXc.1436A>C (p.Glu479Ala)
c.1457A>C (p.Glu486Ala)
12g.56004825A>GCA385294880SUOXc.1436A>G (p.Glu479Gly)
c.1457A>G (p.Glu486Gly)
12g.56004825A>TCA385294875SUOXc.1436A>T (p.Glu479Val)
c.1457A>T (p.Glu486Val)
12g.56004826A>CCA385294884SUOXc.1437A>C (p.Glu479Asp)
c.1458A>C (p.Glu486Asp)
12g.56004826A>GCA480366600SUOXc.1437A>G (p.Glu479=)
c.1458A>G (p.Glu486=)
12g.56004826A>TCA385294888SUOXc.1437A>T (p.Glu479Asp)
c.1458A>T (p.Glu486Asp)
12g.56004827C>ACA385294893SUOXc.1438C>A (p.Gln480Lys)
c.1459C>A (p.Gln487Lys)
12g.56004827C=CA2038198045SUOXc.1438C= (p.Gln480=)
c.1459C= (p.Gln487=)
12g.56004827C>GCA385294908SUOXc.1438C>G (p.Gln480Glu)
c.1459C>G (p.Gln487Glu)
 dbSNP
12g.56004827C>TCA385294914SUOXc.1438C>T (p.Gln480Ter)
c.1459C>T (p.Gln487Ter)
12g.56004828A>CCA385294932SUOXc.1439A>C (p.Gln480Pro)
c.1460A>C (p.Gln487Pro)
12g.56004828A>GCA385294922SUOXc.1439A>G (p.Gln480Arg)
c.1460A>G (p.Gln487Arg)
 gnomAD v4
12g.56004828A>TCA385294926SUOXc.1439A>T (p.Gln480Leu)
c.1460A>T (p.Gln487Leu)
12g.56004829G>ACA480366601SUOXc.1440G>A (p.Gln480=)
c.1461G>A (p.Gln487=)
12g.56004829G>CCA385294942SUOXc.1440G>C (p.Gln480His)
c.1461G>C (p.Gln487His)
12g.56004829G>TCA385294944SUOXc.1440G>T (p.Gln480His)
c.1461G>T (p.Gln487His)
12g.56004830C>ACA385294953SUOXc.1441C>A (p.Arg481Ser)
c.1462C>A (p.Arg488Ser)
12g.56004830C=CA2038198046SUOXc.1441C= (p.Arg481=)
c.1462C= (p.Arg488=)
12g.56004830C>GCA385294957SUOXc.1441C>G (p.Arg481Gly)
c.1462C>G (p.Arg488Gly)
12g.56004830C>TCA6621164SUOXc.1441C>T (p.Arg481Cys)
c.1462C>T (p.Arg488Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.56004831G>ACA6621165SUOXc.1442G>A (p.Arg481His)
c.1463G>A (p.Arg488His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004831G>CCA385294969SUOXc.1442G>C (p.Arg481Pro)
c.1463G>C (p.Arg488Pro)
12g.56004831G=CA2038198047SUOXc.1442G= (p.Arg481=)
c.1463G= (p.Arg488=)
12g.56004831G>TCA385294966SUOXc.1442G>T (p.Arg481Leu)
c.1463G>T (p.Arg488Leu)
12g.56004831_56004832insTGCA2572739459SUOXc.1442_1443insTG (p.Pro482AlafsTer13)
c.1463_1464insTG (p.Pro489AlafsTer13)
12g.56004832C>ACA480366602SUOXc.1443C>A (p.Arg481=)
c.1464C>A (p.Arg488=)
12g.56004832C=CA2038198048SUOXc.1443C= (p.Arg481=)
c.1464C= (p.Arg488=)
12g.56004832C>GCA480366604SUOXc.1443C>G (p.Arg481=)
c.1464C>G (p.Arg488=)
12g.56004832C>TCA480366603SUOXc.1443C>T (p.Arg481=)
c.1464C>T (p.Arg488=)
 ClinVar dbSNP gnomAD v4
12g.56004833C>ACA385294978SUOXc.1444C>A (p.Pro482Thr)
c.1465C>A (p.Pro489Thr)
12g.56004833C>GCA385294981SUOXc.1444C>G (p.Pro482Ala)
c.1465C>G (p.Pro489Ala)
12g.56004833C>TCA385294990SUOXc.1444C>T (p.Pro482Ser)
c.1465C>T (p.Pro489Ser)
 gnomAD v4
12g.56004834C>ACA385294995SUOXc.1445C>A (p.Pro482His)
c.1466C>A (p.Pro489His)
12g.56004834C>GCA385295000SUOXc.1445C>G (p.Pro482Arg)
c.1466C>G (p.Pro489Arg)
12g.56004834C>TCA385295012SUOXc.1445C>T (p.Pro482Leu)
c.1466C>T (p.Pro489Leu)
12g.56004835C>ACA480366605SUOXc.1446C>A (p.Pro482=)
c.1467C>A (p.Pro489=)
 dbSNP gnomAD v3 gnomAD v4
12g.56004835C=CA2038198049SUOXc.1446C= (p.Pro482=)
c.1467C= (p.Pro489=)
12g.56004835C>GCA480366606SUOXc.1446C>G (p.Pro482=)
c.1467C>G (p.Pro489=)
12g.56004835C>TCA480366607SUOXc.1446C>T (p.Pro482=)
c.1467C>T (p.Pro489=)
12g.56004835_56004836delCA2504617342SUOXc.1446_1447del (p.Arg483GlufsTer26)
c.1467_1468del (p.Arg490GlufsTer26)
12g.56004836A>CCA480366608SUOXc.1447A>C (p.Arg483=)
c.1468A>C (p.Arg490=)
12g.56004836A>GCA385295035SUOXc.1447A>G (p.Arg483Gly)
c.1468A>G (p.Arg490Gly)
12g.56004836A>TCA385295038SUOXc.1447A>T (p.Arg483Trp)
c.1468A>T (p.Arg490Trp)
12g.56004837G>ACA385295044SUOXc.1448G>A (p.Arg483Lys)
c.1469G>A (p.Arg490Lys)
12g.56004837G>CCA385295050SUOXc.1448G>C (p.Arg483Thr)
c.1469G>C (p.Arg490Thr)
12g.56004837G>TCA385295052SUOXc.1448G>T (p.Arg483Met)
c.1469G>T (p.Arg490Met)
12g.56004838G>ACA480366609SUOXc.1449G>A (p.Arg483=)
c.1470G>A (p.Arg490=)
12g.56004838G>CCA385295057SUOXc.1449G>C (p.Arg483Ser)
c.1470G>C (p.Arg490Ser)
12g.56004838G>TCA385295058SUOXc.1449G>T (p.Arg483Ser)
c.1470G>T (p.Arg490Ser)
12g.56004839A>CCA385295070SUOXc.1450A>C (p.Lys484Gln)
c.1471A>C (p.Lys491Gln)
12g.56004839A>GCA385295063SUOXc.1450A>G (p.Lys484Glu)
c.1471A>G (p.Lys491Glu)
12g.56004839A>TCA385295061SUOXc.1450A>T (p.Lys484Ter)
c.1471A>T (p.Lys491Ter)
12g.56004840A>CCA385295075SUOXc.1451A>C (p.Lys484Thr)
c.1472A>C (p.Lys491Thr)
12g.56004840A>GCA385295076SUOXc.1451A>G (p.Lys484Arg)
c.1472A>G (p.Lys491Arg)
12g.56004840A>TCA385295077SUOXc.1451A>T (p.Lys484Met)
c.1472A>T (p.Lys491Met)
12g.56004841G>ACA480366610SUOXc.1452G>A (p.Lys484=)
c.1473G>A (p.Lys491=)
 ClinVar dbSNP gnomAD v2
12g.56004841G>CCA385295081SUOXc.1452G>C (p.Lys484Asn)
c.1473G>C (p.Lys491Asn)
12g.56004841G=CA2038198050SUOXc.1452G= (p.Lys484=)
c.1473G= (p.Lys491=)
12g.56004841G>TCA385295083SUOXc.1452G>T (p.Lys484Asn)
c.1473G>T (p.Lys491Asn)
12g.56004842G>ACA385295087SUOXc.1453G>A (p.Ala485Thr)
c.1474G>A (p.Ala492Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004842G>CCA385295091SUOXc.1453G>C (p.Ala485Pro)
c.1474G>C (p.Ala492Pro)
12g.56004842G=CA2038198051SUOXc.1453G= (p.Ala485=)
c.1474G= (p.Ala492=)
12g.56004842G>TCA385295096SUOXc.1453G>T (p.Ala485Ser)
c.1474G>T (p.Ala492Ser)
12g.56004843C>ACA385295104SUOXc.1454C>A (p.Ala485Asp)
c.1475C>A (p.Ala492Asp)
12g.56004843C=CA2038198052SUOXc.1454C= (p.Ala485=)
c.1475C= (p.Ala492=)
12g.56004843C>GCA385295109SUOXc.1454C>G (p.Ala485Gly)
c.1475C>G (p.Ala492Gly)
12g.56004843C>TCA385295112SUOXc.1454C>T (p.Ala485Val)
c.1475C>T (p.Ala492Val)
 dbSNP gnomAD v2 gnomAD v4
12g.56004844C>ACA480366611SUOXc.1455C>A (p.Ala485=)
c.1476C>A (p.Ala492=)
12g.56004844C>GCA480366612SUOXc.1455C>G (p.Ala485=)
c.1476C>G (p.Ala492=)
12g.56004844C>TCA480366613SUOXc.1455C>T (p.Ala485=)
c.1476C>T (p.Ala492=)
 gnomAD v4
12g.56004845T>ACA385295118SUOXc.1456T>A (p.Trp486Arg)
c.1477T>A (p.Trp493Arg)
12g.56004845T>CCA385295123SUOXc.1456T>C (p.Trp486Arg)
c.1477T>C (p.Trp493Arg)
12g.56004845T>GCA385295125SUOXc.1456T>G (p.Trp486Gly)
c.1477T>G (p.Trp493Gly)
12g.56004846G>ACA385295139SUOXc.1457G>A (p.Trp486Ter)
c.1478G>A (p.Trp493Ter)
 gnomAD v4
12g.56004846G>CCA385295145SUOXc.1457G>C (p.Trp486Ser)
c.1478G>C (p.Trp493Ser)
12g.56004846G>TCA385295136SUOXc.1457G>T (p.Trp486Leu)
c.1478G>T (p.Trp493Leu)
12g.56004847G>ACA385295148SUOXc.1458G>A (p.Trp486Ter)
c.1479G>A (p.Trp493Ter)
 gnomAD v4
12g.56004847G>CCA385295159SUOXc.1458G>C (p.Trp486Cys)
c.1479G>C (p.Trp493Cys)
 gnomAD v4
12g.56004847G=CA2038198053SUOXc.1458G= (p.Trp486=)
c.1479G= (p.Trp493=)
12g.56004847G>TCA6621166SUOXc.1458G>T (p.Trp486Cys)
c.1479G>T (p.Trp493Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.56004848G>ACA385297024SUOXc.1459G>A (p.Ala487Thr)
c.1480G>A (p.Ala494Thr)
 dbSNP gnomAD v3 gnomAD v4
12g.56004848G>CCA385297026SUOXc.1459G>C (p.Ala487Pro)
c.1480G>C (p.Ala494Pro)
 gnomAD v4
12g.56004848G=CA2038198054SUOXc.1459G= (p.Ala487=)
c.1480G= (p.Ala494=)
12g.56004848G>TCA385297028SUOXc.1459G>T (p.Ala487Ser)
c.1480G>T (p.Ala494Ser)
12g.56004849C>ACA385297040SUOXc.1460C>A (p.Ala487Glu)
c.1481C>A (p.Ala494Glu)
12g.56004849C=CA2038198055SUOXc.1460C= (p.Ala487=)
c.1481C= (p.Ala494=)
12g.56004849C>GCA385297041SUOXc.1460C>G (p.Ala487Gly)
c.1481C>G (p.Ala494Gly)
12g.56004849C>TCA6621167SUOXc.1460C>T (p.Ala487Val)
c.1481C>T (p.Ala494Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004850A=CA2038198056SUOXc.1461A= (p.Ala487=)
c.1482A= (p.Ala494=)
12g.56004850A>CCA480180033SUOXc.1461A>C (p.Ala487=)
c.1482A>C (p.Ala494=)
12g.56004850A>GCA480180035SUOXc.1461A>G (p.Ala487=)
c.1482A>G (p.Ala494=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.56004850A>TCA480180036SUOXc.1461A>T (p.Ala487=)
c.1482A>T (p.Ala494=)
 ClinVar
12g.56004851T>ACA385297046SUOXc.1462T>A (p.Trp488Arg)
c.1483T>A (p.Trp495Arg)
12g.56004851T>CCA385297047SUOXc.1462T>C (p.Trp488Arg)
c.1483T>C (p.Trp495Arg)
12g.56004851T>GCA385297049SUOXc.1462T>G (p.Trp488Gly)
c.1483T>G (p.Trp495Gly)
12g.56004852G>ACA385297060SUOXc.1463G>A (p.Trp488Ter)
c.1484G>A (p.Trp495Ter)
12g.56004852G>CCA385297052SUOXc.1463G>C (p.Trp488Ser)
c.1484G>C (p.Trp495Ser)
12g.56004852G>TCA385297057SUOXc.1463G>T (p.Trp488Leu)
c.1484G>T (p.Trp495Leu)
12g.56004853G>ACA385297064SUOXc.1464G>A (p.Trp488Ter)
c.1485G>A (p.Trp495Ter)
 ClinVar
12g.56004853G>CCA385297068SUOXc.1464G>C (p.Trp488Cys)
c.1485G>C (p.Trp495Cys)
12g.56004853G>TCA385297071SUOXc.1464G>T (p.Trp488Cys)
c.1485G>T (p.Trp495Cys)
12g.56004854C>ACA385297075SUOXc.1465C>A (p.Arg489Ser)
c.1486C>A (p.Arg496Ser)
12g.56004854C=CA2038198057SUOXc.1465C= (p.Arg489=)
c.1486C= (p.Arg496=)
12g.56004854C>GCA385297077SUOXc.1465C>G (p.Arg489Gly)
c.1486C>G (p.Arg496Gly)
12g.56004854C>TCA237605346SUOXc.1465C>T (p.Arg489Cys)
c.1486C>T (p.Arg496Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.56004855G>ACA6621168SUOXc.1466G>A (p.Arg489His)
c.1487G>A (p.Arg496His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.56004855G>CCA385297091SUOXc.1466G>C (p.Arg489Pro)
c.1487G>C (p.Arg496Pro)
12g.56004855G=CA2038198058SUOXc.1466G= (p.Arg489=)
c.1487G= (p.Arg496=)
12g.56004855G>TCA385297098SUOXc.1466G>T (p.Arg489Leu)
c.1487G>T (p.Arg496Leu)
12g.56004856T>ACA480180040SUOXc.1467T>A (p.Arg489=)
c.1488T>A (p.Arg496=)
12g.56004856T>CCA480180041SUOXc.1467T>C (p.Arg489=)
c.1488T>C (p.Arg496=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.56004856T>GCA480180039SUOXc.1467T>G (p.Arg489=)
c.1488T>G (p.Arg496=)
12g.56004856T=CA2038198059SUOXc.1467T= (p.Arg489=)
c.1488T= (p.Arg496=)
12g.56004857C>ACA385297101SUOXc.1468C>A (p.Leu490Met)
c.1489C>A (p.Leu497Met)
12g.56004857C>GCA385297104SUOXc.1468C>G (p.Leu490Val)
c.1489C>G (p.Leu497Val)
12g.56004857C>TCA480180042SUOXc.1468C>T (p.Leu490=)
c.1489C>T (p.Leu497=)
 gnomAD v4
12g.56004858T>ACA385297119SUOXc.1469T>A (p.Leu490Gln)
c.1490T>A (p.Leu497Gln)
12g.56004858T>CCA385297117SUOXc.1469T>C (p.Leu490Pro)
c.1490T>C (p.Leu497Pro)
12g.56004858T>GCA385297109SUOXc.1469T>G (p.Leu490Arg)
c.1490T>G (p.Leu497Arg)
12g.56004859G>ACA480180044SUOXc.1470G>A (p.Leu490=)
c.1491G>A (p.Leu497=)
12g.56004859G>CCA480180045SUOXc.1470G>C (p.Leu490=)
c.1491G>C (p.Leu497=)
12g.56004859G>TCA480180046SUOXc.1470G>T (p.Leu490=)
c.1491G>T (p.Leu497=)
12g.56004860T>ACA385297125SUOXc.1471T>A (p.Trp491Arg)
c.1492T>A (p.Trp498Arg)
12g.56004860T>CCA385297131SUOXc.1471T>C (p.Trp491Arg)
c.1492T>C (p.Trp498Arg)
12g.56004860T>GCA385297129SUOXc.1471T>G (p.Trp491Gly)
c.1492T>G (p.Trp498Gly)
12g.56004861G>ACA385297137SUOXc.1472G>A (p.Trp491Ter)
c.1493G>A (p.Trp498Ter)
 dbSNP
12g.56004861G>CCA385297141SUOXc.1472G>C (p.Trp491Ser)
c.1493G>C (p.Trp498Ser)
12g.56004861G=CA2038198060SUOXc.1472G= (p.Trp491=)
c.1493G= (p.Trp498=)
12g.56004861G>TCA385297140SUOXc.1472G>T (p.Trp491Leu)
c.1493G>T (p.Trp498Leu)
12g.56004862G>ACA385297146SUOXc.1473G>A (p.Trp491Ter)
c.1494G>A (p.Trp498Ter)
 dbSNP gnomAD v2 gnomAD v4
12g.56004862G>CCA385297150SUOXc.1473G>C (p.Trp491Cys)
c.1494G>C (p.Trp498Cys)
12g.56004862G=CA2038198061SUOXc.1473G= (p.Trp491=)
c.1494G= (p.Trp498=)
12g.56004862G>TCA385297155SUOXc.1473G>T (p.Trp491Cys)
c.1494G>T (p.Trp498Cys)
 gnomAD v4
12g.56004863C>ACA385297162SUOXc.1474C>A (p.Gln492Lys)
c.1495C>A (p.Gln499Lys)
12g.56004863C>GCA385297167SUOXc.1474C>G (p.Gln492Glu)
c.1495C>G (p.Gln499Glu)
12g.56004863C>TCA385297170SUOXc.1474C>T (p.Gln492Ter)
c.1495C>T (p.Gln499Ter)
 COSMIC
12g.56004864A=CA2038198062SUOXc.1475A= (p.Gln492=)
c.1496A= (p.Gln499=)
12g.56004864A>CCA385297191SUOXc.1475A>C (p.Gln492Pro)
c.1496A>C (p.Gln499Pro)
12g.56004864A>GCA385297194SUOXc.1475A>G (p.Gln492Arg)
c.1496A>G (p.Gln499Arg)
12g.56004864A>TCA385297198SUOXc.1475A>T (p.Gln492Leu)
c.1496A>T (p.Gln499Leu)
12g.56004865G>ACA480180051SUOXc.1476G>A (p.Gln492=)
c.1497G>A (p.Gln499=)
12g.56004865G>CCA385297211SUOXc.1476G>C (p.Gln492His)
c.1497G>C (p.Gln499His)
12g.56004865G>TCA385297216SUOXc.1476G>T (p.Gln492His)
c.1497G>T (p.Gln499His)
12g.56004865dupCA237605349SUOXc.1476dup (p.Leu493ValfsTer17)
c.1497dup (p.Leu500ValfsTer17)
 dbSNP
12g.56004866T>ACA385297221SUOXc.1477T>A (p.Leu493Met)
c.1498T>A (p.Leu500Met)
12g.56004866T>CCA480180052SUOXc.1477T>C (p.Leu493=)
c.1498T>C (p.Leu500=)
12g.56004866T>GCA6621169SUOXc.1477T>G (p.Leu493Val)
c.1498T>G (p.Leu500Val)
 dbSNP ExAC gnomAD v2
12g.56004866T=CA2038198063SUOXc.1477T= (p.Leu493=)
c.1498T= (p.Leu500=)
12g.56004867T>ACA385297228SUOXc.1478T>A (p.Leu493Ter)
c.1499T>A (p.Leu500Ter)
12g.56004867T>CCA385297236SUOXc.1478T>C (p.Leu493Ser)
c.1499T>C (p.Leu500Ser)
12g.56004867T>GCA385297240SUOXc.1478T>G (p.Leu493Trp)
c.1499T>G (p.Leu500Trp)
12g.56004868G>ACA480180054SUOXc.1479G>A (p.Leu493=)
c.1500G>A (p.Leu500=)
12g.56004868G>CCA385297244SUOXc.1479G>C (p.Leu493Phe)
c.1500G>C (p.Leu500Phe)
12g.56004868G>TCA385297251SUOXc.1479G>T (p.Leu493Phe)
c.1500G>T (p.Leu500Phe)
12g.56004869A=CA2038198064SUOXc.1480A= (p.Lys494=)
c.1501A= (p.Lys501=)
12g.56004869A>CCA385297255SUOXc.1480A>C (p.Lys494Gln)
c.1501A>C (p.Lys501Gln)
12g.56004869A>GCA385297261SUOXc.1480A>G (p.Lys494Glu)
c.1501A>G (p.Lys501Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.56004869A>TCA385297263SUOXc.1480A>T (p.Lys494Ter)
c.1501A>T (p.Lys501Ter)
12g.56004870A>CCA385297279SUOXc.1481A>C (p.Lys494Thr)
c.1502A>C (p.Lys501Thr)
12g.56004870A>GCA385297289SUOXc.1481A>G (p.Lys494Arg)
c.1502A>G (p.Lys501Arg)
12g.56004870A>TCA385297290SUOXc.1481A>T (p.Lys494Ile)
c.1502A>T (p.Lys501Ile)

Number of alleles fetched