| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.56004823G>A | CA480366599 | SUOX | c.1434G>A (p.Glu478=) c.1455G>A (p.Glu485=) | |
| 12 | g.56004823G>C | CA385294854 | SUOX | c.1434G>C (p.Glu478Asp) c.1455G>C (p.Glu485Asp) | ClinVar dbSNP gnomAD v4 |
| 12 | g.56004823G>T | CA385294859 | SUOX | c.1434G>T (p.Glu478Asp) c.1455G>T (p.Glu485Asp) | COSMIC |
| 12 | g.56004824G>A | CA385294863 | SUOX | c.1435G>A (p.Glu479Lys) c.1456G>A (p.Glu486Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.56004824G>C | CA385294869 | SUOX | c.1435G>C (p.Glu479Gln) c.1456G>C (p.Glu486Gln) | |
| 12 | g.56004824G= | CA2038198044 | SUOX | c.1435G= (p.Glu479=) c.1456G= (p.Glu486=) | |
| 12 | g.56004824G>T | CA385294874 | SUOX | c.1435G>T (p.Glu479Ter) c.1456G>T (p.Glu486Ter) | |
| 12 | g.56004825A>C | CA385294876 | SUOX | c.1436A>C (p.Glu479Ala) c.1457A>C (p.Glu486Ala) | |
| 12 | g.56004825A>G | CA385294880 | SUOX | c.1436A>G (p.Glu479Gly) c.1457A>G (p.Glu486Gly) | |
| 12 | g.56004825A>T | CA385294875 | SUOX | c.1436A>T (p.Glu479Val) c.1457A>T (p.Glu486Val) | |
| 12 | g.56004826A>C | CA385294884 | SUOX | c.1437A>C (p.Glu479Asp) c.1458A>C (p.Glu486Asp) | |
| 12 | g.56004826A>G | CA480366600 | SUOX | c.1437A>G (p.Glu479=) c.1458A>G (p.Glu486=) | |
| 12 | g.56004826A>T | CA385294888 | SUOX | c.1437A>T (p.Glu479Asp) c.1458A>T (p.Glu486Asp) | |
| 12 | g.56004827C>A | CA385294893 | SUOX | c.1438C>A (p.Gln480Lys) c.1459C>A (p.Gln487Lys) | |
| 12 | g.56004827C= | CA2038198045 | SUOX | c.1438C= (p.Gln480=) c.1459C= (p.Gln487=) | |
| 12 | g.56004827C>G | CA385294908 | SUOX | c.1438C>G (p.Gln480Glu) c.1459C>G (p.Gln487Glu) | dbSNP |
| 12 | g.56004827C>T | CA385294914 | SUOX | c.1438C>T (p.Gln480Ter) c.1459C>T (p.Gln487Ter) | |
| 12 | g.56004828A>C | CA385294932 | SUOX | c.1439A>C (p.Gln480Pro) c.1460A>C (p.Gln487Pro) | |
| 12 | g.56004828A>G | CA385294922 | SUOX | c.1439A>G (p.Gln480Arg) c.1460A>G (p.Gln487Arg) | gnomAD v4 |
| 12 | g.56004828A>T | CA385294926 | SUOX | c.1439A>T (p.Gln480Leu) c.1460A>T (p.Gln487Leu) | |
| 12 | g.56004829G>A | CA480366601 | SUOX | c.1440G>A (p.Gln480=) c.1461G>A (p.Gln487=) | |
| 12 | g.56004829G>C | CA385294942 | SUOX | c.1440G>C (p.Gln480His) c.1461G>C (p.Gln487His) | |
| 12 | g.56004829G>T | CA385294944 | SUOX | c.1440G>T (p.Gln480His) c.1461G>T (p.Gln487His) | |
| 12 | g.56004830C>A | CA385294953 | SUOX | c.1441C>A (p.Arg481Ser) c.1462C>A (p.Arg488Ser) | |
| 12 | g.56004830C= | CA2038198046 | SUOX | c.1441C= (p.Arg481=) c.1462C= (p.Arg488=) | |
| 12 | g.56004830C>G | CA385294957 | SUOX | c.1441C>G (p.Arg481Gly) c.1462C>G (p.Arg488Gly) | |
| 12 | g.56004830C>T | CA6621164 | SUOX | c.1441C>T (p.Arg481Cys) c.1462C>T (p.Arg488Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.56004831G>A | CA6621165 | SUOX | c.1442G>A (p.Arg481His) c.1463G>A (p.Arg488His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004831G>C | CA385294969 | SUOX | c.1442G>C (p.Arg481Pro) c.1463G>C (p.Arg488Pro) | |
| 12 | g.56004831G= | CA2038198047 | SUOX | c.1442G= (p.Arg481=) c.1463G= (p.Arg488=) | |
| 12 | g.56004831G>T | CA385294966 | SUOX | c.1442G>T (p.Arg481Leu) c.1463G>T (p.Arg488Leu) | |
| 12 | g.56004831_56004832insTG | CA2572739459 | SUOX | c.1442_1443insTG (p.Pro482AlafsTer13) c.1463_1464insTG (p.Pro489AlafsTer13) | |
| 12 | g.56004832C>A | CA480366602 | SUOX | c.1443C>A (p.Arg481=) c.1464C>A (p.Arg488=) | |
| 12 | g.56004832C= | CA2038198048 | SUOX | c.1443C= (p.Arg481=) c.1464C= (p.Arg488=) | |
| 12 | g.56004832C>G | CA480366604 | SUOX | c.1443C>G (p.Arg481=) c.1464C>G (p.Arg488=) | |
| 12 | g.56004832C>T | CA480366603 | SUOX | c.1443C>T (p.Arg481=) c.1464C>T (p.Arg488=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.56004833C>A | CA385294978 | SUOX | c.1444C>A (p.Pro482Thr) c.1465C>A (p.Pro489Thr) | |
| 12 | g.56004833C>G | CA385294981 | SUOX | c.1444C>G (p.Pro482Ala) c.1465C>G (p.Pro489Ala) | |
| 12 | g.56004833C>T | CA385294990 | SUOX | c.1444C>T (p.Pro482Ser) c.1465C>T (p.Pro489Ser) | gnomAD v4 |
| 12 | g.56004834C>A | CA385294995 | SUOX | c.1445C>A (p.Pro482His) c.1466C>A (p.Pro489His) | |
| 12 | g.56004834C>G | CA385295000 | SUOX | c.1445C>G (p.Pro482Arg) c.1466C>G (p.Pro489Arg) | |
| 12 | g.56004834C>T | CA385295012 | SUOX | c.1445C>T (p.Pro482Leu) c.1466C>T (p.Pro489Leu) | |
| 12 | g.56004835C>A | CA480366605 | SUOX | c.1446C>A (p.Pro482=) c.1467C>A (p.Pro489=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004835C= | CA2038198049 | SUOX | c.1446C= (p.Pro482=) c.1467C= (p.Pro489=) | |
| 12 | g.56004835C>G | CA480366606 | SUOX | c.1446C>G (p.Pro482=) c.1467C>G (p.Pro489=) | |
| 12 | g.56004835C>T | CA480366607 | SUOX | c.1446C>T (p.Pro482=) c.1467C>T (p.Pro489=) | |
| 12 | g.56004835_56004836del | CA2504617342 | SUOX | c.1446_1447del (p.Arg483GlufsTer26) c.1467_1468del (p.Arg490GlufsTer26) | |
| 12 | g.56004836A>C | CA480366608 | SUOX | c.1447A>C (p.Arg483=) c.1468A>C (p.Arg490=) | |
| 12 | g.56004836A>G | CA385295035 | SUOX | c.1447A>G (p.Arg483Gly) c.1468A>G (p.Arg490Gly) | |
| 12 | g.56004836A>T | CA385295038 | SUOX | c.1447A>T (p.Arg483Trp) c.1468A>T (p.Arg490Trp) | |
| 12 | g.56004837G>A | CA385295044 | SUOX | c.1448G>A (p.Arg483Lys) c.1469G>A (p.Arg490Lys) | |
| 12 | g.56004837G>C | CA385295050 | SUOX | c.1448G>C (p.Arg483Thr) c.1469G>C (p.Arg490Thr) | |
| 12 | g.56004837G>T | CA385295052 | SUOX | c.1448G>T (p.Arg483Met) c.1469G>T (p.Arg490Met) | |
| 12 | g.56004838G>A | CA480366609 | SUOX | c.1449G>A (p.Arg483=) c.1470G>A (p.Arg490=) | |
| 12 | g.56004838G>C | CA385295057 | SUOX | c.1449G>C (p.Arg483Ser) c.1470G>C (p.Arg490Ser) | |
| 12 | g.56004838G>T | CA385295058 | SUOX | c.1449G>T (p.Arg483Ser) c.1470G>T (p.Arg490Ser) | |
| 12 | g.56004839A>C | CA385295070 | SUOX | c.1450A>C (p.Lys484Gln) c.1471A>C (p.Lys491Gln) | |
| 12 | g.56004839A>G | CA385295063 | SUOX | c.1450A>G (p.Lys484Glu) c.1471A>G (p.Lys491Glu) | |
| 12 | g.56004839A>T | CA385295061 | SUOX | c.1450A>T (p.Lys484Ter) c.1471A>T (p.Lys491Ter) | |
| 12 | g.56004840A>C | CA385295075 | SUOX | c.1451A>C (p.Lys484Thr) c.1472A>C (p.Lys491Thr) | |
| 12 | g.56004840A>G | CA385295076 | SUOX | c.1451A>G (p.Lys484Arg) c.1472A>G (p.Lys491Arg) | |
| 12 | g.56004840A>T | CA385295077 | SUOX | c.1451A>T (p.Lys484Met) c.1472A>T (p.Lys491Met) | |
| 12 | g.56004841G>A | CA480366610 | SUOX | c.1452G>A (p.Lys484=) c.1473G>A (p.Lys491=) | ClinVar dbSNP gnomAD v2 |
| 12 | g.56004841G>C | CA385295081 | SUOX | c.1452G>C (p.Lys484Asn) c.1473G>C (p.Lys491Asn) | |
| 12 | g.56004841G= | CA2038198050 | SUOX | c.1452G= (p.Lys484=) c.1473G= (p.Lys491=) | |
| 12 | g.56004841G>T | CA385295083 | SUOX | c.1452G>T (p.Lys484Asn) c.1473G>T (p.Lys491Asn) | |
| 12 | g.56004842G>A | CA385295087 | SUOX | c.1453G>A (p.Ala485Thr) c.1474G>A (p.Ala492Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004842G>C | CA385295091 | SUOX | c.1453G>C (p.Ala485Pro) c.1474G>C (p.Ala492Pro) | |
| 12 | g.56004842G= | CA2038198051 | SUOX | c.1453G= (p.Ala485=) c.1474G= (p.Ala492=) | |
| 12 | g.56004842G>T | CA385295096 | SUOX | c.1453G>T (p.Ala485Ser) c.1474G>T (p.Ala492Ser) | |
| 12 | g.56004843C>A | CA385295104 | SUOX | c.1454C>A (p.Ala485Asp) c.1475C>A (p.Ala492Asp) | |
| 12 | g.56004843C= | CA2038198052 | SUOX | c.1454C= (p.Ala485=) c.1475C= (p.Ala492=) | |
| 12 | g.56004843C>G | CA385295109 | SUOX | c.1454C>G (p.Ala485Gly) c.1475C>G (p.Ala492Gly) | |
| 12 | g.56004843C>T | CA385295112 | SUOX | c.1454C>T (p.Ala485Val) c.1475C>T (p.Ala492Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004844C>A | CA480366611 | SUOX | c.1455C>A (p.Ala485=) c.1476C>A (p.Ala492=) | |
| 12 | g.56004844C>G | CA480366612 | SUOX | c.1455C>G (p.Ala485=) c.1476C>G (p.Ala492=) | |
| 12 | g.56004844C>T | CA480366613 | SUOX | c.1455C>T (p.Ala485=) c.1476C>T (p.Ala492=) | gnomAD v4 |
| 12 | g.56004845T>A | CA385295118 | SUOX | c.1456T>A (p.Trp486Arg) c.1477T>A (p.Trp493Arg) | |
| 12 | g.56004845T>C | CA385295123 | SUOX | c.1456T>C (p.Trp486Arg) c.1477T>C (p.Trp493Arg) | |
| 12 | g.56004845T>G | CA385295125 | SUOX | c.1456T>G (p.Trp486Gly) c.1477T>G (p.Trp493Gly) | |
| 12 | g.56004846G>A | CA385295139 | SUOX | c.1457G>A (p.Trp486Ter) c.1478G>A (p.Trp493Ter) | gnomAD v4 |
| 12 | g.56004846G>C | CA385295145 | SUOX | c.1457G>C (p.Trp486Ser) c.1478G>C (p.Trp493Ser) | |
| 12 | g.56004846G>T | CA385295136 | SUOX | c.1457G>T (p.Trp486Leu) c.1478G>T (p.Trp493Leu) | |
| 12 | g.56004847G>A | CA385295148 | SUOX | c.1458G>A (p.Trp486Ter) c.1479G>A (p.Trp493Ter) | gnomAD v4 |
| 12 | g.56004847G>C | CA385295159 | SUOX | c.1458G>C (p.Trp486Cys) c.1479G>C (p.Trp493Cys) | gnomAD v4 |
| 12 | g.56004847G= | CA2038198053 | SUOX | c.1458G= (p.Trp486=) c.1479G= (p.Trp493=) | |
| 12 | g.56004847G>T | CA6621166 | SUOX | c.1458G>T (p.Trp486Cys) c.1479G>T (p.Trp493Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004848G>A | CA385297024 | SUOX | c.1459G>A (p.Ala487Thr) c.1480G>A (p.Ala494Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004848G>C | CA385297026 | SUOX | c.1459G>C (p.Ala487Pro) c.1480G>C (p.Ala494Pro) | gnomAD v4 |
| 12 | g.56004848G= | CA2038198054 | SUOX | c.1459G= (p.Ala487=) c.1480G= (p.Ala494=) | |
| 12 | g.56004848G>T | CA385297028 | SUOX | c.1459G>T (p.Ala487Ser) c.1480G>T (p.Ala494Ser) | |
| 12 | g.56004849C>A | CA385297040 | SUOX | c.1460C>A (p.Ala487Glu) c.1481C>A (p.Ala494Glu) | |
| 12 | g.56004849C= | CA2038198055 | SUOX | c.1460C= (p.Ala487=) c.1481C= (p.Ala494=) | |
| 12 | g.56004849C>G | CA385297041 | SUOX | c.1460C>G (p.Ala487Gly) c.1481C>G (p.Ala494Gly) | |
| 12 | g.56004849C>T | CA6621167 | SUOX | c.1460C>T (p.Ala487Val) c.1481C>T (p.Ala494Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004850A= | CA2038198056 | SUOX | c.1461A= (p.Ala487=) c.1482A= (p.Ala494=) | |
| 12 | g.56004850A>C | CA480180033 | SUOX | c.1461A>C (p.Ala487=) c.1482A>C (p.Ala494=) | |
| 12 | g.56004850A>G | CA480180035 | SUOX | c.1461A>G (p.Ala487=) c.1482A>G (p.Ala494=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004850A>T | CA480180036 | SUOX | c.1461A>T (p.Ala487=) c.1482A>T (p.Ala494=) | ClinVar |
| 12 | g.56004851T>A | CA385297046 | SUOX | c.1462T>A (p.Trp488Arg) c.1483T>A (p.Trp495Arg) | |
| 12 | g.56004851T>C | CA385297047 | SUOX | c.1462T>C (p.Trp488Arg) c.1483T>C (p.Trp495Arg) | |
| 12 | g.56004851T>G | CA385297049 | SUOX | c.1462T>G (p.Trp488Gly) c.1483T>G (p.Trp495Gly) | |
| 12 | g.56004852G>A | CA385297060 | SUOX | c.1463G>A (p.Trp488Ter) c.1484G>A (p.Trp495Ter) | |
| 12 | g.56004852G>C | CA385297052 | SUOX | c.1463G>C (p.Trp488Ser) c.1484G>C (p.Trp495Ser) | |
| 12 | g.56004852G>T | CA385297057 | SUOX | c.1463G>T (p.Trp488Leu) c.1484G>T (p.Trp495Leu) | |
| 12 | g.56004853G>A | CA385297064 | SUOX | c.1464G>A (p.Trp488Ter) c.1485G>A (p.Trp495Ter) | ClinVar |
| 12 | g.56004853G>C | CA385297068 | SUOX | c.1464G>C (p.Trp488Cys) c.1485G>C (p.Trp495Cys) | |
| 12 | g.56004853G>T | CA385297071 | SUOX | c.1464G>T (p.Trp488Cys) c.1485G>T (p.Trp495Cys) | |
| 12 | g.56004854C>A | CA385297075 | SUOX | c.1465C>A (p.Arg489Ser) c.1486C>A (p.Arg496Ser) | |
| 12 | g.56004854C= | CA2038198057 | SUOX | c.1465C= (p.Arg489=) c.1486C= (p.Arg496=) | |
| 12 | g.56004854C>G | CA385297077 | SUOX | c.1465C>G (p.Arg489Gly) c.1486C>G (p.Arg496Gly) | |
| 12 | g.56004854C>T | CA237605346 | SUOX | c.1465C>T (p.Arg489Cys) c.1486C>T (p.Arg496Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004855G>A | CA6621168 | SUOX | c.1466G>A (p.Arg489His) c.1487G>A (p.Arg496His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004855G>C | CA385297091 | SUOX | c.1466G>C (p.Arg489Pro) c.1487G>C (p.Arg496Pro) | |
| 12 | g.56004855G= | CA2038198058 | SUOX | c.1466G= (p.Arg489=) c.1487G= (p.Arg496=) | |
| 12 | g.56004855G>T | CA385297098 | SUOX | c.1466G>T (p.Arg489Leu) c.1487G>T (p.Arg496Leu) | |
| 12 | g.56004856T>A | CA480180040 | SUOX | c.1467T>A (p.Arg489=) c.1488T>A (p.Arg496=) | |
| 12 | g.56004856T>C | CA480180041 | SUOX | c.1467T>C (p.Arg489=) c.1488T>C (p.Arg496=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004856T>G | CA480180039 | SUOX | c.1467T>G (p.Arg489=) c.1488T>G (p.Arg496=) | |
| 12 | g.56004856T= | CA2038198059 | SUOX | c.1467T= (p.Arg489=) c.1488T= (p.Arg496=) | |
| 12 | g.56004857C>A | CA385297101 | SUOX | c.1468C>A (p.Leu490Met) c.1489C>A (p.Leu497Met) | |
| 12 | g.56004857C>G | CA385297104 | SUOX | c.1468C>G (p.Leu490Val) c.1489C>G (p.Leu497Val) | |
| 12 | g.56004857C>T | CA480180042 | SUOX | c.1468C>T (p.Leu490=) c.1489C>T (p.Leu497=) | gnomAD v4 |
| 12 | g.56004858T>A | CA385297119 | SUOX | c.1469T>A (p.Leu490Gln) c.1490T>A (p.Leu497Gln) | |
| 12 | g.56004858T>C | CA385297117 | SUOX | c.1469T>C (p.Leu490Pro) c.1490T>C (p.Leu497Pro) | |
| 12 | g.56004858T>G | CA385297109 | SUOX | c.1469T>G (p.Leu490Arg) c.1490T>G (p.Leu497Arg) | |
| 12 | g.56004859G>A | CA480180044 | SUOX | c.1470G>A (p.Leu490=) c.1491G>A (p.Leu497=) | |
| 12 | g.56004859G>C | CA480180045 | SUOX | c.1470G>C (p.Leu490=) c.1491G>C (p.Leu497=) | |
| 12 | g.56004859G>T | CA480180046 | SUOX | c.1470G>T (p.Leu490=) c.1491G>T (p.Leu497=) | |
| 12 | g.56004860T>A | CA385297125 | SUOX | c.1471T>A (p.Trp491Arg) c.1492T>A (p.Trp498Arg) | |
| 12 | g.56004860T>C | CA385297131 | SUOX | c.1471T>C (p.Trp491Arg) c.1492T>C (p.Trp498Arg) | |
| 12 | g.56004860T>G | CA385297129 | SUOX | c.1471T>G (p.Trp491Gly) c.1492T>G (p.Trp498Gly) | |
| 12 | g.56004861G>A | CA385297137 | SUOX | c.1472G>A (p.Trp491Ter) c.1493G>A (p.Trp498Ter) | dbSNP |
| 12 | g.56004861G>C | CA385297141 | SUOX | c.1472G>C (p.Trp491Ser) c.1493G>C (p.Trp498Ser) | |
| 12 | g.56004861G= | CA2038198060 | SUOX | c.1472G= (p.Trp491=) c.1493G= (p.Trp498=) | |
| 12 | g.56004861G>T | CA385297140 | SUOX | c.1472G>T (p.Trp491Leu) c.1493G>T (p.Trp498Leu) | |
| 12 | g.56004862G>A | CA385297146 | SUOX | c.1473G>A (p.Trp491Ter) c.1494G>A (p.Trp498Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004862G>C | CA385297150 | SUOX | c.1473G>C (p.Trp491Cys) c.1494G>C (p.Trp498Cys) | |
| 12 | g.56004862G= | CA2038198061 | SUOX | c.1473G= (p.Trp491=) c.1494G= (p.Trp498=) | |
| 12 | g.56004862G>T | CA385297155 | SUOX | c.1473G>T (p.Trp491Cys) c.1494G>T (p.Trp498Cys) | gnomAD v4 |
| 12 | g.56004863C>A | CA385297162 | SUOX | c.1474C>A (p.Gln492Lys) c.1495C>A (p.Gln499Lys) | |
| 12 | g.56004863C>G | CA385297167 | SUOX | c.1474C>G (p.Gln492Glu) c.1495C>G (p.Gln499Glu) | |
| 12 | g.56004863C>T | CA385297170 | SUOX | c.1474C>T (p.Gln492Ter) c.1495C>T (p.Gln499Ter) | COSMIC |
| 12 | g.56004864A= | CA2038198062 | SUOX | c.1475A= (p.Gln492=) c.1496A= (p.Gln499=) | |
| 12 | g.56004864A>C | CA385297191 | SUOX | c.1475A>C (p.Gln492Pro) c.1496A>C (p.Gln499Pro) | |
| 12 | g.56004864A>G | CA385297194 | SUOX | c.1475A>G (p.Gln492Arg) c.1496A>G (p.Gln499Arg) | |
| 12 | g.56004864A>T | CA385297198 | SUOX | c.1475A>T (p.Gln492Leu) c.1496A>T (p.Gln499Leu) | |
| 12 | g.56004865G>A | CA480180051 | SUOX | c.1476G>A (p.Gln492=) c.1497G>A (p.Gln499=) | |
| 12 | g.56004865G>C | CA385297211 | SUOX | c.1476G>C (p.Gln492His) c.1497G>C (p.Gln499His) | |
| 12 | g.56004865G>T | CA385297216 | SUOX | c.1476G>T (p.Gln492His) c.1497G>T (p.Gln499His) | |
| 12 | g.56004865dup | CA237605349 | SUOX | c.1476dup (p.Leu493ValfsTer17) c.1497dup (p.Leu500ValfsTer17) | dbSNP |
| 12 | g.56004866T>A | CA385297221 | SUOX | c.1477T>A (p.Leu493Met) c.1498T>A (p.Leu500Met) | |
| 12 | g.56004866T>C | CA480180052 | SUOX | c.1477T>C (p.Leu493=) c.1498T>C (p.Leu500=) | |
| 12 | g.56004866T>G | CA6621169 | SUOX | c.1477T>G (p.Leu493Val) c.1498T>G (p.Leu500Val) | dbSNP ExAC gnomAD v2 |
| 12 | g.56004866T= | CA2038198063 | SUOX | c.1477T= (p.Leu493=) c.1498T= (p.Leu500=) | |
| 12 | g.56004867T>A | CA385297228 | SUOX | c.1478T>A (p.Leu493Ter) c.1499T>A (p.Leu500Ter) | |
| 12 | g.56004867T>C | CA385297236 | SUOX | c.1478T>C (p.Leu493Ser) c.1499T>C (p.Leu500Ser) | |
| 12 | g.56004867T>G | CA385297240 | SUOX | c.1478T>G (p.Leu493Trp) c.1499T>G (p.Leu500Trp) | |
| 12 | g.56004868G>A | CA480180054 | SUOX | c.1479G>A (p.Leu493=) c.1500G>A (p.Leu500=) | |
| 12 | g.56004868G>C | CA385297244 | SUOX | c.1479G>C (p.Leu493Phe) c.1500G>C (p.Leu500Phe) | |
| 12 | g.56004868G>T | CA385297251 | SUOX | c.1479G>T (p.Leu493Phe) c.1500G>T (p.Leu500Phe) | |
| 12 | g.56004869A= | CA2038198064 | SUOX | c.1480A= (p.Lys494=) c.1501A= (p.Lys501=) | |
| 12 | g.56004869A>C | CA385297255 | SUOX | c.1480A>C (p.Lys494Gln) c.1501A>C (p.Lys501Gln) | |
| 12 | g.56004869A>G | CA385297261 | SUOX | c.1480A>G (p.Lys494Glu) c.1501A>G (p.Lys501Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004869A>T | CA385297263 | SUOX | c.1480A>T (p.Lys494Ter) c.1501A>T (p.Lys501Ter) | |
| 12 | g.56004870A>C | CA385297279 | SUOX | c.1481A>C (p.Lys494Thr) c.1502A>C (p.Lys501Thr) | |
| 12 | g.56004870A>G | CA385297289 | SUOX | c.1481A>G (p.Lys494Arg) c.1502A>G (p.Lys501Arg) | |
| 12 | g.56004870A>T | CA385297290 | SUOX | c.1481A>T (p.Lys494Ile) c.1502A>T (p.Lys501Ile) | |
| 12 | g.56004871A>C | CA385297291 | SUOX | c.1482A>C (p.Lys494Asn) c.1503A>C (p.Lys501Asn) | |
| 12 | g.56004871A>G | CA480180056 | SUOX | c.1482A>G (p.Lys494=) c.1503A>G (p.Lys501=) | |
| 12 | g.56004871A>T | CA385297293 | SUOX | c.1482A>T (p.Lys494Asn) c.1503A>T (p.Lys501Asn) | gnomAD v4 |
| 12 | g.56004872G>A | CA385297298 | SUOX | c.1483G>A (p.Ala495Thr) c.1504G>A (p.Ala502Thr) | |
| 12 | g.56004872G>C | CA385297305 | SUOX | c.1483G>C (p.Ala495Pro) c.1504G>C (p.Ala502Pro) | |
| 12 | g.56004872G>T | CA385297307 | SUOX | c.1483G>T (p.Ala495Ser) c.1504G>T (p.Ala502Ser) | |
| 12 | g.56004873C>A | CA385297321 | SUOX | c.1484C>A (p.Ala495Asp) c.1505C>A (p.Ala502Asp) | |
| 12 | g.56004873C>G | CA385297325 | SUOX | c.1484C>G (p.Ala495Gly) c.1505C>G (p.Ala502Gly) | ClinVar |
| 12 | g.56004873C>T | CA385297331 | SUOX | c.1484C>T (p.Ala495Val) c.1505C>T (p.Ala502Val) | |
| 12 | g.56004874C>A | CA480180059 | SUOX | c.1485C>A (p.Ala495=) c.1506C>A (p.Ala502=) | |
| 12 | g.56004874C>G | CA480180061 | SUOX | c.1485C>G (p.Ala495=) c.1506C>G (p.Ala502=) | |
| 12 | g.56004874C>T | CA480180062 | SUOX | c.1485C>T (p.Ala495=) c.1506C>T (p.Ala502=) | |
| 12 | g.56004875C>A | CA385297334 | SUOX | c.1486C>A (p.Pro496Thr) c.1507C>A (p.Pro503Thr) | |
| 12 | g.56004875C= | CA2038198065 | SUOX | c.1486C= (p.Pro496=) c.1507C= (p.Pro503=) | |
| 12 | g.56004875C>G | CA385297337 | SUOX | c.1486C>G (p.Pro496Ala) c.1507C>G (p.Pro503Ala) | gnomAD v4 |
| 12 | g.56004875C>T | CA385297339 | SUOX | c.1486C>T (p.Pro496Ser) c.1507C>T (p.Pro503Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004876C>A | CA385297343 | SUOX | c.1487C>A (p.Pro496His) c.1508C>A (p.Pro503His) | |
| 12 | g.56004876C= | CA2038198066 | SUOX | c.1487C= (p.Pro496=) c.1508C= (p.Pro503=) | |
| 12 | g.56004876C>G | CA385297346 | SUOX | c.1487C>G (p.Pro496Arg) c.1508C>G (p.Pro503Arg) | ClinVar dbSNP gnomAD v4 |
| 12 | g.56004876C>T | CA385297359 | SUOX | c.1487C>T (p.Pro496Leu) c.1508C>T (p.Pro503Leu) | |
| 12 | g.56004877T>A | CA480180066 | SUOX | c.1488T>A (p.Pro496=) c.1509T>A (p.Pro503=) | |
| 12 | g.56004877T>C | CA480180065 | SUOX | c.1488T>C (p.Pro496=) c.1509T>C (p.Pro503=) | |
| 12 | g.56004877T>G | CA480180064 | SUOX | c.1488T>G (p.Pro496=) c.1509T>G (p.Pro503=) | |
| 12 | g.56004878G>A | CA385297376 | SUOX | c.1489G>A (p.Val497Met) c.1510G>A (p.Val504Met) | dbSNP |
| 12 | g.56004878G>C | CA385297370 | SUOX | c.1489G>C (p.Val497Leu) c.1510G>C (p.Val504Leu) | |
| 12 | g.56004878G= | CA2038198067 | SUOX | c.1489G= (p.Val497=) c.1510G= (p.Val504=) | |
| 12 | g.56004878G>T | CA385297374 | SUOX | c.1489G>T (p.Val497Leu) c.1510G>T (p.Val504Leu) | |
| 12 | g.56004879T>A | CA385297382 | SUOX | c.1490T>A (p.Val497Glu) c.1511T>A (p.Val504Glu) | |
| 12 | g.56004879T>C | CA385297385 | SUOX | c.1490T>C (p.Val497Ala) c.1511T>C (p.Val504Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004879T>G | CA385297390 | SUOX | c.1490T>G (p.Val497Gly) c.1511T>G (p.Val504Gly) | |
| 12 | g.56004879T= | CA2038198068 | SUOX | c.1490T= (p.Val497=) c.1511T= (p.Val504=) | |
| 12 | g.56004880G>A | CA480180067 | SUOX | c.1491G>A (p.Val497=) c.1512G>A (p.Val504=) | COSMIC |
| 12 | g.56004880G>C | CA480180069 | SUOX | c.1491G>C (p.Val497=) c.1512G>C (p.Val504=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004880G= | CA2038198069 | SUOX | c.1491G= (p.Val497=) c.1512G= (p.Val504=) | |
| 12 | g.56004880G>T | CA480180071 | SUOX | c.1491G>T (p.Val497=) c.1512G>T (p.Val504=) | |
| 12 | g.56004881C>A | CA385297392 | SUOX | c.1492C>A (p.Pro498Thr) c.1513C>A (p.Pro505Thr) | |
| 12 | g.56004881C>G | CA385297396 | SUOX | c.1492C>G (p.Pro498Ala) c.1513C>G (p.Pro505Ala) | |
| 12 | g.56004881C>T | CA385297410 | SUOX | c.1492C>T (p.Pro498Ser) c.1513C>T (p.Pro505Ser) | |
| 12 | g.56004882C>A | CA385297413 | SUOX | c.1493C>A (p.Pro498Gln) c.1514C>A (p.Pro505Gln) | |
| 12 | g.56004882C>G | CA385297416 | SUOX | c.1493C>G (p.Pro498Arg) c.1514C>G (p.Pro505Arg) | |
| 12 | g.56004882C>T | CA385297419 | SUOX | c.1493C>T (p.Pro498Leu) c.1514C>T (p.Pro505Leu) | |
| 12 | g.56004883A>C | CA480180073 | SUOX | c.1494A>C (p.Pro498=) c.1515A>C (p.Pro505=) | ClinVar gnomAD v4 |
| 12 | g.56004883A>G | CA480180074 | SUOX | c.1494A>G (p.Pro498=) c.1515A>G (p.Pro505=) | |
| 12 | g.56004883A>T | CA480180076 | SUOX | c.1494A>T (p.Pro498=) c.1515A>T (p.Pro505=) | |
| 12 | g.56004884G>A | CA385297422 | SUOX | c.1495G>A (p.Ala499Thr) c.1516G>A (p.Ala506Thr) | dbSNP |
| 12 | g.56004884G>C | CA385297433 | SUOX | c.1495G>C (p.Ala499Pro) c.1516G>C (p.Ala506Pro) | dbSNP gnomAD v4 |
| 12 | g.56004884G= | CA2038198070 | SUOX | c.1495G= (p.Ala499=) c.1516G= (p.Ala506=) | |
| 12 | g.56004884G>T | CA385297440 | SUOX | c.1495G>T (p.Ala499Ser) c.1516G>T (p.Ala506Ser) | |
| 12 | g.56004885C>A | CA385297454 | SUOX | c.1496C>A (p.Ala499Asp) c.1517C>A (p.Ala506Asp) | |
| 12 | g.56004885C>G | CA385297455 | SUOX | c.1496C>G (p.Ala499Gly) c.1517C>G (p.Ala506Gly) | |
| 12 | g.56004885C>T | CA385297449 | SUOX | c.1496C>T (p.Ala499Val) c.1517C>T (p.Ala506Val) | gnomAD v4 |
| 12 | g.56004886T>A | CA480180078 | SUOX | c.1497T>A (p.Ala499=) c.1518T>A (p.Ala506=) | |
| 12 | g.56004886T>C | CA480180079 | SUOX | c.1497T>C (p.Ala499=) c.1518T>C (p.Ala506=) | |
| 12 | g.56004886T>G | CA480180080 | SUOX | c.1497T>G (p.Ala499=) c.1518T>G (p.Ala506=) | |
| 12 | g.56004887G>A | CA237605351 | SUOX | c.1498G>A (p.Gly500Arg) c.1519G>A (p.Gly507Arg) | dbSNP gnomAD v4 |
| 12 | g.56004887G>C | CA385297456 | SUOX | c.1498G>C (p.Gly500Arg) c.1519G>C (p.Gly507Arg) | |
| 12 | g.56004887G= | CA2038198071 | SUOX | c.1498G= (p.Gly500=) c.1519G= (p.Gly507=) | |
| 12 | g.56004887G>T | CA385297458 | SUOX | c.1498G>T (p.Gly500Ter) c.1519G>T (p.Gly507Ter) | |
| 12 | g.56004888G>A | CA385297465 | SUOX | c.1499G>A (p.Gly500Glu) c.1520G>A (p.Gly507Glu) | gnomAD v4 |
| 12 | g.56004888G>C | CA385297468 | SUOX | c.1499G>C (p.Gly500Ala) c.1520G>C (p.Gly507Ala) | |
| 12 | g.56004888G>T | CA385297471 | SUOX | c.1499G>T (p.Gly500Val) c.1520G>T (p.Gly507Val) | |
| 12 | g.56004889A>C | CA480180082 | SUOX | c.1500A>C (p.Gly500=) c.1521A>C (p.Gly507=) | |
| 12 | g.56004889A>G | CA480180083 | SUOX | c.1500A>G (p.Gly500=) c.1521A>G (p.Gly507=) | |
| 12 | g.56004889A>T | CA480180084 | SUOX | c.1500A>T (p.Gly500=) c.1521A>T (p.Gly507=) | |
| 12 | g.56004890C>A | CA385297474 | SUOX | c.1501C>A (p.Gln501Lys) c.1522C>A (p.Gln508Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004890C= | CA2038198072 | SUOX | c.1501C= (p.Gln501=) c.1522C= (p.Gln508=) | |
| 12 | g.56004890C>G | CA385297475 | SUOX | c.1501C>G (p.Gln501Glu) c.1522C>G (p.Gln508Glu) | |
| 12 | g.56004890C>T | CA6621170 | SUOX | c.1501C>T (p.Gln501Ter) c.1522C>T (p.Gln508Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004891A= | CA2038198073 | SUOX | c.1502A= (p.Gln501=) c.1523A= (p.Gln508=) | |
| 12 | g.56004891A>C | CA385297477 | SUOX | c.1502A>C (p.Gln501Pro) c.1523A>C (p.Gln508Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004891A>G | CA385297479 | SUOX | c.1502A>G (p.Gln501Arg) c.1523A>G (p.Gln508Arg) | |
| 12 | g.56004891A>T | CA385297481 | SUOX | c.1502A>T (p.Gln501Leu) c.1523A>T (p.Gln508Leu) | |
| 12 | g.56004894dup | CA2619249755 | SUOX | c.1505dup (p.Glu503GlyfsTer7) c.1526dup (p.Glu510GlyfsTer7) | gnomAD v4 |
| 12 | g.56004892A>C | CA385297484 | SUOX | c.1503A>C (p.Gln501His) c.1524A>C (p.Gln508His) | |
| 12 | g.56004892A>G | CA480180088 | SUOX | c.1503A>G (p.Gln501=) c.1524A>G (p.Gln508=) | |
| 12 | g.56004892A>T | CA385297488 | SUOX | c.1503A>T (p.Gln501His) c.1524A>T (p.Gln508His) | |
| 12 | g.56004893A>C | CA385297494 | SUOX | c.1504A>C (p.Lys502Gln) c.1525A>C (p.Lys509Gln) | |
| 12 | g.56004893A>G | CA385297491 | SUOX | c.1504A>G (p.Lys502Glu) c.1525A>G (p.Lys509Glu) | |
| 12 | g.56004893A>T | CA385297492 | SUOX | c.1504A>T (p.Lys502Ter) c.1525A>T (p.Lys509Ter) | |
| 12 | g.56004894A>C | CA385297502 | SUOX | c.1505A>C (p.Lys502Thr) c.1526A>C (p.Lys509Thr) | |
| 12 | g.56004894A>G | CA385297509 | SUOX | c.1505A>G (p.Lys502Arg) c.1526A>G (p.Lys509Arg) | |
| 12 | g.56004894A>T | CA385297547 | SUOX | c.1505A>T (p.Lys502Met) c.1526A>T (p.Lys509Met) | |
| 12 | g.56004895G>A | CA480180092 | SUOX | c.1506G>A (p.Lys502=) c.1527G>A (p.Lys509=) | |
| 12 | g.56004895G>C | CA385297554 | SUOX | c.1506G>C (p.Lys502Asn) c.1527G>C (p.Lys509Asn) | |
| 12 | g.56004895G>T | CA385297562 | SUOX | c.1506G>T (p.Lys502Asn) c.1527G>T (p.Lys509Asn) | |
| 12 | g.56004896G>A | CA385297563 | SUOX | c.1507G>A (p.Glu503Lys) c.1528G>A (p.Glu510Lys) | dbSNP gnomAD v4 |
| 12 | g.56004896G>C | CA385297564 | SUOX | c.1507G>C (p.Glu503Gln) c.1528G>C (p.Glu510Gln) | |
| 12 | g.56004896G= | CA2038198074 | SUOX | c.1507G= (p.Glu503=) c.1528G= (p.Glu510=) | |
| 12 | g.56004896G>T | CA385297565 | SUOX | c.1507G>T (p.Glu503Ter) c.1528G>T (p.Glu510Ter) | |
| 12 | g.56004897A= | CA2038198075 | SUOX | c.1508A= (p.Glu503=) c.1529A= (p.Glu510=) | |
| 12 | g.56004897A>C | CA385297570 | SUOX | c.1508A>C (p.Glu503Ala) c.1529A>C (p.Glu510Ala) | |
| 12 | g.56004897A>G | CA385297574 | SUOX | c.1508A>G (p.Glu503Gly) c.1529A>G (p.Glu510Gly) | |
| 12 | g.56004897A>T | CA385297579 | SUOX | c.1508A>T (p.Glu503Val) c.1529A>T (p.Glu510Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004898del | CA2619249765 | SUOX | c.1509del (p.Glu503AspfsTer2) c.1530del (p.Glu510AspfsTer2) | gnomAD v4 |
| 12 | g.56004898A= | CA2038198076 | SUOX | c.1509A= (p.Glu503=) c.1530A= (p.Glu510=) | |
| 12 | g.56004898A>C | CA385297589 | SUOX | c.1509A>C (p.Glu503Asp) c.1530A>C (p.Glu510Asp) | |
| 12 | g.56004898A>G | CA480180096 | SUOX | c.1509A>G (p.Glu503=) c.1530A>G (p.Glu510=) | dbSNP |
| 12 | g.56004898A>T | CA385297596 | SUOX | c.1509A>T (p.Glu503Asp) c.1530A>T (p.Glu510Asp) | |
| 12 | g.56004899C>A | CA385297597 | SUOX | c.1510C>A (p.Leu504Met) c.1531C>A (p.Leu511Met) | |
| 12 | g.56004899C= | CA2038198077 | SUOX | c.1510C= (p.Leu504=) c.1531C= (p.Leu511=) | |
| 12 | g.56004899C>G | CA6621171 | SUOX | c.1510C>G (p.Leu504Val) c.1531C>G (p.Leu511Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004899C>T | CA480180097 | SUOX | c.1510C>T (p.Leu504=) c.1531C>T (p.Leu511=) | |
| 12 | g.56004900T>A | CA385297611 | SUOX | c.1511T>A (p.Leu504Gln) c.1532T>A (p.Leu511Gln) | |
| 12 | g.56004900T>C | CA385297612 | SUOX | c.1511T>C (p.Leu504Pro) c.1532T>C (p.Leu511Pro) | |
| 12 | g.56004900T>G | CA385297613 | SUOX | c.1511T>G (p.Leu504Arg) c.1532T>G (p.Leu511Arg) | gnomAD v4 |
| 12 | g.56004901G>A | CA480180099 | SUOX | c.1512G>A (p.Leu504=) c.1533G>A (p.Leu511=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004901G>C | CA480180100 | SUOX | c.1512G>C (p.Leu504=) c.1533G>C (p.Leu511=) | ClinVar |
| 12 | g.56004901G= | CA2038198078 | SUOX | c.1512G= (p.Leu504=) c.1533G= (p.Leu511=) | |
| 12 | g.56004901G>T | CA480180101 | SUOX | c.1512G>T (p.Leu504=) c.1533G>T (p.Leu511=) | |
| 12 | g.56004902A>C | CA385297614 | SUOX | c.1513A>C (p.Asn505His) c.1534A>C (p.Asn512His) | |
| 12 | g.56004902A>G | CA385297616 | SUOX | c.1513A>G (p.Asn505Asp) c.1534A>G (p.Asn512Asp) | gnomAD v4 |
| 12 | g.56004902A>T | CA385297617 | SUOX | c.1513A>T (p.Asn505Tyr) c.1534A>T (p.Asn512Tyr) | |
| 12 | g.56004903A>C | CA385297621 | SUOX | c.1514A>C (p.Asn505Thr) c.1535A>C (p.Asn512Thr) | |
| 12 | g.56004903A>G | CA385297624 | SUOX | c.1514A>G (p.Asn505Ser) c.1535A>G (p.Asn512Ser) | |
| 12 | g.56004903A>T | CA385297629 | SUOX | c.1514A>T (p.Asn505Ile) c.1535A>T (p.Asn512Ile) | |
| 12 | g.56004904C>A | CA385297641 | SUOX | c.1515C>A (p.Asn505Lys) c.1536C>A (p.Asn512Lys) | dbSNP |
| 12 | g.56004904C= | CA2038198079 | SUOX | c.1515C= (p.Asn505=) c.1536C= (p.Asn512=) | |
| 12 | g.56004904C>G | CA385297646 | SUOX | c.1515C>G (p.Asn505Lys) c.1536C>G (p.Asn512Lys) | |
| 12 | g.56004904C>T | CA6621172 | SUOX | c.1515C>T (p.Asn505=) c.1536C>T (p.Asn512=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004905A>C | CA385297670 | SUOX | c.1516A>C (p.Ile506Leu) c.1537A>C (p.Ile513Leu) | |
| 12 | g.56004905A>G | CA385297689 | SUOX | c.1516A>G (p.Ile506Val) c.1537A>G (p.Ile513Val) | gnomAD v4 |
| 12 | g.56004905A>T | CA385297664 | SUOX | c.1516A>T (p.Ile506Phe) c.1537A>T (p.Ile513Phe) | |
| 12 | g.56004905_56004909delinsATTGT | CA2038198080 | SUOX | c.1516_1520delinsATTGT (p.Ile506=) c.1537_1541delinsATTGT (p.Ile513=) | |
| 12 | g.56004906T>A | CA385297695 | SUOX | c.1517T>A (p.Ile506Asn) c.1538T>A (p.Ile513Asn) | |
| 12 | g.56004906T>C | CA385297700 | SUOX | c.1517T>C (p.Ile506Thr) c.1538T>C (p.Ile513Thr) | |
| 12 | g.56004906T>G | CA385297705 | SUOX | c.1517T>G (p.Ile506Ser) c.1538T>G (p.Ile513Ser) | |
| 12 | g.56004910_56004913del | CA2038198081 | SUOX | c.1521_1524del (p.Cys508ArgfsTer?) c.1542_1545del (p.Cys515ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
| 12 | g.56004907T>A | CA480180107 | SUOX | c.1518T>A (p.Ile506=) c.1539T>A (p.Ile513=) | gnomAD v4 |
| 12 | g.56004907T>C | CA480180108 | SUOX | c.1518T>C (p.Ile506=) c.1539T>C (p.Ile513=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004907T>G | CA385297710 | SUOX | c.1518T>G (p.Ile506Met) c.1539T>G (p.Ile513Met) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004907T= | CA2038198082 | SUOX | c.1518T= (p.Ile506=) c.1539T= (p.Ile513=) | |
| 12 | g.56004908G>A | CA385297723 | SUOX | c.1519G>A (p.Val507Ile) c.1540G>A (p.Val514Ile) | |
| 12 | g.56004908G>C | CA385297720 | SUOX | c.1519G>C (p.Val507Leu) c.1540G>C (p.Val514Leu) | |
| 12 | g.56004908G>T | CA385297716 | SUOX | c.1519G>T (p.Val507Phe) c.1540G>T (p.Val514Phe) | gnomAD v4 |
| 12 | g.56004909T>A | CA237605355 | SUOX | c.1520T>A (p.Val507Asp) c.1541T>A (p.Val514Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004909T>C | CA385297730 | SUOX | c.1520T>C (p.Val507Ala) c.1541T>C (p.Val514Ala) | |
| 12 | g.56004909T>G | CA385297731 | SUOX | c.1520T>G (p.Val507Gly) c.1541T>G (p.Val514Gly) | |
| 12 | g.56004909T= | CA2038198083 | SUOX | c.1520T= (p.Val507=) c.1541T= (p.Val514=) | |
| 12 | g.56004910T>A | CA480180110 | SUOX | c.1521T>A (p.Val507=) c.1542T>A (p.Val514=) | |
| 12 | g.56004910T>C | CA480180111 | SUOX | c.1521T>C (p.Val507=) c.1542T>C (p.Val514=) | |
| 12 | g.56004910T>G | CA480180112 | SUOX | c.1521T>G (p.Val507=) c.1542T>G (p.Val514=) | |
| 12 | g.56004911T>A | CA385297732 | SUOX | c.1522T>A (p.Cys508Ser) c.1543T>A (p.Cys515Ser) | |
| 12 | g.56004911T>C | CA385297735 | SUOX | c.1522T>C (p.Cys508Arg) c.1543T>C (p.Cys515Arg) | dbSNP gnomAD v4 |
| 12 | g.56004911T>G | CA385297740 | SUOX | c.1522T>G (p.Cys508Gly) c.1543T>G (p.Cys515Gly) | |
| 12 | g.56004911T= | CA2038198084 | SUOX | c.1522T= (p.Cys508=) c.1543T= (p.Cys515=) | |
| 12 | g.56004912G>A | CA385297745 | SUOX | c.1523G>A (p.Cys508Tyr) c.1544G>A (p.Cys515Tyr) | gnomAD v4 |
| 12 | g.56004912G>C | CA385297751 | SUOX | c.1523G>C (p.Cys508Ser) c.1544G>C (p.Cys515Ser) | |
| 12 | g.56004912G= | CA2038198085 | SUOX | c.1523G= (p.Cys508=) c.1544G= (p.Cys515=) | |
| 12 | g.56004912G>T | CA385297750 | SUOX | c.1523G>T (p.Cys508Phe) c.1544G>T (p.Cys515Phe) | dbSNP gnomAD v4 |
| 12 | g.56004913T>A | CA385297752 | SUOX | c.1524T>A (p.Cys508Ter) c.1545T>A (p.Cys515Ter) | |
| 12 | g.56004913T>C | CA480180114 | SUOX | c.1524T>C (p.Cys508=) c.1545T>C (p.Cys515=) | gnomAD v4 |
| 12 | g.56004913T>G | CA385297753 | SUOX | c.1524T>G (p.Cys508Trp) c.1545T>G (p.Cys515Trp) | |
| 12 | g.56004914A= | CA2038198086 | SUOX | c.1525A= (p.Lys509=) c.1546A= (p.Lys516=) | |
| 12 | g.56004914A>C | CA385297757 | SUOX | c.1525A>C (p.Lys509Gln) c.1546A>C (p.Lys516Gln) | |
| 12 | g.56004914A>G | CA6621173 | SUOX | c.1525A>G (p.Lys509Glu) c.1546A>G (p.Lys516Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004914A>T | CA385297765 | SUOX | c.1525A>T (p.Lys509Ter) c.1546A>T (p.Lys516Ter) | |
| 12 | g.56004915A>C | CA385297773 | SUOX | c.1526A>C (p.Lys509Thr) c.1547A>C (p.Lys516Thr) | |
| 12 | g.56004915A>G | CA385297777 | SUOX | c.1526A>G (p.Lys509Arg) c.1547A>G (p.Lys516Arg) | |
| 12 | g.56004915A>T | CA385297787 | SUOX | c.1526A>T (p.Lys509Met) c.1547A>T (p.Lys516Met) | |
| 12 | g.56004916G>A | CA6621174 | SUOX | c.1527G>A (p.Lys509=) c.1548G>A (p.Lys516=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004916G>C | CA385297797 | SUOX | c.1527G>C (p.Lys509Asn) c.1548G>C (p.Lys516Asn) | |
| 12 | g.56004916G= | CA2038198087 | SUOX | c.1527G= (p.Lys509=) c.1548G= (p.Lys516=) | |
| 12 | g.56004916G>T | CA385297810 | SUOX | c.1527G>T (p.Lys509Asn) c.1548G>T (p.Lys516Asn) | |
| 12 | g.56004917G>A | CA385297826 | SUOX | c.1528G>A (p.Ala510Thr) c.1549G>A (p.Ala517Thr) | dbSNP |
| 12 | g.56004917G>C | CA385297820 | SUOX | c.1528G>C (p.Ala510Pro) c.1549G>C (p.Ala517Pro) | |
| 12 | g.56004917G= | CA2038198088 | SUOX | c.1528G= (p.Ala510=) c.1549G= (p.Ala517=) | |
| 12 | g.56004917G>T | CA385297819 | SUOX | c.1528G>T (p.Ala510Ser) c.1549G>T (p.Ala517Ser) | |
| 12 | g.56004918del | CA2619249823 | SUOX | c.1529del (p.Ala510ValfsTer?) c.1550del (p.Ala517ValfsTer?) | gnomAD v4 |
| 12 | g.56004918C>A | CA385297831 | SUOX | c.1529C>A (p.Ala510Asp) c.1550C>A (p.Ala517Asp) | |
| 12 | g.56004918C>G | CA385297841 | SUOX | c.1529C>G (p.Ala510Gly) c.1550C>G (p.Ala517Gly) | |
| 12 | g.56004918C>T | CA385297848 | SUOX | c.1529C>T (p.Ala510Val) c.1550C>T (p.Ala517Val) | gnomAD v4 |
| 12 | g.56004919T>A | CA480180119 | SUOX | c.1530T>A (p.Ala510=) c.1551T>A (p.Ala517=) | |
| 12 | g.56004919T>C | CA480180118 | SUOX | c.1530T>C (p.Ala510=) c.1551T>C (p.Ala517=) | |
| 12 | g.56004919T>G | CA480180117 | SUOX | c.1530T>G (p.Ala510=) c.1551T>G (p.Ala517=) | |
| 12 | g.56004920G>A | CA6621175 | SUOX | c.1531G>A (p.Val511Met) c.1552G>A (p.Val518Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004920G>C | CA385297858 | SUOX | c.1531G>C (p.Val511Leu) c.1552G>C (p.Val518Leu) | |
| 12 | g.56004920G= | CA2038198089 | SUOX | c.1531G= (p.Val511=) c.1552G= (p.Val518=) | |
| 12 | g.56004920G>T | CA385297861 | SUOX | c.1531G>T (p.Val511Leu) c.1552G>T (p.Val518Leu) | |
| 12 | g.56004921T>A | CA385297866 | SUOX | c.1532T>A (p.Val511Glu) c.1553T>A (p.Val518Glu) | |
| 12 | g.56004921T>C | CA385297880 | SUOX | c.1532T>C (p.Val511Ala) c.1553T>C (p.Val518Ala) | |
| 12 | g.56004921T>G | CA385297869 | SUOX | c.1532T>G (p.Val511Gly) c.1553T>G (p.Val518Gly) | |
| 12 | g.56004922G>A | CA480180124 | SUOX | c.1533G>A (p.Val511=) c.1554G>A (p.Val518=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.56004922G>C | CA480180123 | SUOX | c.1533G>C (p.Val511=) c.1554G>C (p.Val518=) | |
| 12 | g.56004922G= | CA2038198090 | SUOX | c.1533G= (p.Val511=) c.1554G= (p.Val518=) | |
| 12 | g.56004922G>T | CA480180122 | SUOX | c.1533G>T (p.Val511=) c.1554G>T (p.Val518=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004923G>A | CA385297884 | SUOX | c.1534G>A (p.Asp512Asn) c.1555G>A (p.Asp519Asn) | |
| 12 | g.56004923G>C | CA385297888 | SUOX | c.1534G>C (p.Asp512His) c.1555G>C (p.Asp519His) | |
| 12 | g.56004923G= | CA2038198091 | SUOX | c.1534G= (p.Asp512=) c.1555G= (p.Asp519=) | |
| 12 | g.56004923G>T | CA6621176 | SUOX | c.1534G>T (p.Asp512Tyr) c.1555G>T (p.Asp519Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |