| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.56004968A>C | CA385298606 | SUOX | c.1579A>C (p.Asn527His) c.1600A>C (p.Asn534His) | |
| 12 | g.56004968A>G | CA385298608 | SUOX | c.1579A>G (p.Asn527Asp) c.1600A>G (p.Asn534Asp) | |
| 12 | g.56004968A>T | CA385298618 | SUOX | c.1579A>T (p.Asn527Tyr) c.1600A>T (p.Asn534Tyr) | |
| 12 | g.56004969A>C | CA385298623 | SUOX | c.1580A>C (p.Asn527Thr) c.1601A>C (p.Asn534Thr) | |
| 12 | g.56004969A>G | CA385298624 | SUOX | c.1580A>G (p.Asn527Ser) c.1601A>G (p.Asn534Ser) | |
| 12 | g.56004969A>T | CA385298625 | SUOX | c.1580A>T (p.Asn527Ile) c.1601A>T (p.Asn534Ile) | |
| 12 | g.56004970C>A | CA385298634 | SUOX | c.1581C>A (p.Asn527Lys) c.1602C>A (p.Asn534Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004970C= | CA2038198110 | SUOX | c.1581C= (p.Asn527=) c.1602C= (p.Asn534=) | |
| 12 | g.56004970C>G | CA385298638 | SUOX | c.1581C>G (p.Asn527Lys) c.1602C>G (p.Asn534Lys) | |
| 12 | g.56004970C>T | CA480180196 | SUOX | c.1581C>T (p.Asn527=) c.1602C>T (p.Asn534=) | |
| 12 | g.56004971C>A | CA385298656 | SUOX | c.1582C>A (p.Leu528Met) c.1603C>A (p.Leu535Met) | |
| 12 | g.56004971C= | CA2038198111 | SUOX | c.1582C= (p.Leu528=) c.1603C= (p.Leu535=) | |
| 12 | g.56004971C>G | CA385298659 | SUOX | c.1582C>G (p.Leu528Val) c.1603C>G (p.Leu535Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004971C>T | CA480180200 | SUOX | c.1582C>T (p.Leu528=) c.1603C>T (p.Leu535=) | |
| 12 | g.56004972T>A | CA385298669 | SUOX | c.1583T>A (p.Leu528Gln) c.1604T>A (p.Leu535Gln) | |
| 12 | g.56004972T>C | CA385298671 | SUOX | c.1583T>C (p.Leu528Pro) c.1604T>C (p.Leu535Pro) | ClinVar dbSNP |
| 12 | g.56004972T>G | CA385298672 | SUOX | c.1583T>G (p.Leu528Arg) c.1604T>G (p.Leu535Arg) | |
| 12 | g.56004972T= | CA2038198112 | SUOX | c.1583T= (p.Leu528=) c.1604T= (p.Leu535=) | |
| 12 | g.56004973G>A | CA480180206 | SUOX | c.1584G>A (p.Leu528=) c.1605G>A (p.Leu535=) | dbSNP |
| 12 | g.56004973G>C | CA480180205 | SUOX | c.1584G>C (p.Leu528=) c.1605G>C (p.Leu535=) | |
| 12 | g.56004973G= | CA2038198113 | SUOX | c.1584G= (p.Leu528=) c.1605G= (p.Leu535=) | |
| 12 | g.56004973G>T | CA480180208 | SUOX | c.1584G>T (p.Leu528=) c.1605G>T (p.Leu535=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004974C>A | CA480180210 | SUOX | c.1585C>A (p.Arg529=) c.1606C>A (p.Arg536=) | |
| 12 | g.56004974C= | CA2038198114 | SUOX | c.1585C= (p.Arg529=) c.1606C= (p.Arg536=) | |
| 12 | g.56004974C>G | CA385298674 | SUOX | c.1585C>G (p.Arg529Gly) c.1606C>G (p.Arg536Gly) | |
| 12 | g.56004974C>T | CA6621185 | SUOX | c.1585C>T (p.Arg529Ter) c.1606C>T (p.Arg536Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.56004975G>A | CA6621186 | SUOX | c.1586G>A (p.Arg529Gln) c.1607G>A (p.Arg536Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004975G>C | CA385298694 | SUOX | c.1586G>C (p.Arg529Pro) c.1607G>C (p.Arg536Pro) | |
| 12 | g.56004975G= | CA2038198115 | SUOX | c.1586G= (p.Arg529=) c.1607G= (p.Arg536=) | |
| 12 | g.56004975G>T | CA385298689 | SUOX | c.1586G>T (p.Arg529Leu) c.1607G>T (p.Arg536Leu) | |
| 12 | g.56004976A>C | CA480180219 | SUOX | c.1587A>C (p.Arg529=) c.1608A>C (p.Arg536=) | |
| 12 | g.56004976A>G | CA480180221 | SUOX | c.1587A>G (p.Arg529=) c.1608A>G (p.Arg536=) | |
| 12 | g.56004976A>T | CA480180222 | SUOX | c.1587A>T (p.Arg529=) c.1608A>T (p.Arg536=) | |
| 12 | g.56004977G>A | CA385298707 | SUOX | c.1588G>A (p.Gly530Ser) c.1609G>A (p.Gly537Ser) | gnomAD v4 |
| 12 | g.56004977G>C | CA385298710 | SUOX | c.1588G>C (p.Gly530Arg) c.1609G>C (p.Gly537Arg) | |
| 12 | g.56004977G>T | CA385298712 | SUOX | c.1588G>T (p.Gly530Cys) c.1609G>T (p.Gly537Cys) | |
| 12 | g.56004978G>A | CA116471 | SUOX | c.1589G>A (p.Gly530Asp) c.1610G>A (p.Gly537Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004978G>C | CA385298719 | SUOX | c.1589G>C (p.Gly530Ala) c.1610G>C (p.Gly537Ala) | |
| 12 | g.56004978G= | CA2038198116 | SUOX | c.1589G= (p.Gly530=) c.1610G= (p.Gly537=) | |
| 12 | g.56004978G>T | CA385298720 | SUOX | c.1589G>T (p.Gly530Val) c.1610G>T (p.Gly537Val) | gnomAD v4 |
| 12 | g.56004979T>A | CA480180229 | SUOX | c.1590T>A (p.Gly530=) c.1611T>A (p.Gly537=) | |
| 12 | g.56004979T>C | CA480180231 | SUOX | c.1590T>C (p.Gly530=) c.1611T>C (p.Gly537=) | dbSNP |
| 12 | g.56004979T>G | CA480180232 | SUOX | c.1590T>G (p.Gly530=) c.1611T>G (p.Gly537=) | |
| 12 | g.56004979T= | CA2038198117 | SUOX | c.1590T= (p.Gly530=) c.1611T= (p.Gly537=) | |
| 12 | g.56004980G>A | CA6621187 | SUOX | c.1591G>A (p.Val531Ile) c.1612G>A (p.Val538Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56004980G>C | CA385298725 | SUOX | c.1591G>C (p.Val531Leu) c.1612G>C (p.Val538Leu) | |
| 12 | g.56004980G= | CA2038198118 | SUOX | c.1591G= (p.Val531=) c.1612G= (p.Val538=) | |
| 12 | g.56004980G>T | CA385298727 | SUOX | c.1591G>T (p.Val531Phe) c.1612G>T (p.Val538Phe) | |
| 12 | g.56004981T>A | CA6621188 | SUOX | c.1592T>A (p.Val531Asp) c.1613T>A (p.Val538Asp) | dbSNP ExAC |
| 12 | g.56004981T>C | CA385298731 | SUOX | c.1592T>C (p.Val531Ala) c.1613T>C (p.Val538Ala) | |
| 12 | g.56004981T>G | CA385298738 | SUOX | c.1592T>G (p.Val531Gly) c.1613T>G (p.Val538Gly) | |
| 12 | g.56004981T= | CA2038198119 | SUOX | c.1592T= (p.Val531=) c.1613T= (p.Val538=) | |
| 12 | g.56004982T>A | CA480180241 | SUOX | c.1593T>A (p.Val531=) c.1614T>A (p.Val538=) | |
| 12 | g.56004982T>C | CA480180243 | SUOX | c.1593T>C (p.Val531=) c.1614T>C (p.Val538=) | |
| 12 | g.56004982T>G | CA480180244 | SUOX | c.1593T>G (p.Val531=) c.1614T>G (p.Val538=) | ClinVar dbSNP |
| 12 | g.56004982T= | CA2038198120 | SUOX | c.1593T= (p.Val531=) c.1614T= (p.Val538=) | |
| 12 | g.56004983C>A | CA385298760 | SUOX | c.1594C>A (p.Leu532Ile) c.1615C>A (p.Leu539Ile) | gnomAD v4 |
| 12 | g.56004983C= | CA2038198121 | SUOX | c.1594C= (p.Leu532=) c.1615C= (p.Leu539=) | |
| 12 | g.56004983C>G | CA385298745 | SUOX | c.1594C>G (p.Leu532Val) c.1615C>G (p.Leu539Val) | |
| 12 | g.56004983C>T | CA237605372 | SUOX | c.1594C>T (p.Leu532Phe) c.1615C>T (p.Leu539Phe) | dbSNP |
| 12 | g.56004984T>A | CA385298763 | SUOX | c.1595T>A (p.Leu532His) c.1616T>A (p.Leu539His) | |
| 12 | g.56004984T>C | CA385298764 | SUOX | c.1595T>C (p.Leu532Pro) c.1616T>C (p.Leu539Pro) | |
| 12 | g.56004984T>G | CA385298765 | SUOX | c.1595T>G (p.Leu532Arg) c.1616T>G (p.Leu539Arg) | |
| 12 | g.56004985C>A | CA480180252 | SUOX | c.1596C>A (p.Leu532=) c.1617C>A (p.Leu539=) | |
| 12 | g.56004985C= | CA2038198122 | SUOX | c.1596C= (p.Leu532=) c.1617C= (p.Leu539=) | |
| 12 | g.56004985C>G | CA480180254 | SUOX | c.1596C>G (p.Leu532=) c.1617C>G (p.Leu539=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004985C>T | CA480180255 | SUOX | c.1596C>T (p.Leu532=) c.1617C>T (p.Leu539=) | gnomAD v4 |
| 12 | g.56004986A>C | CA385298767 | SUOX | c.1597A>C (p.Ser533Arg) c.1618A>C (p.Ser540Arg) | |
| 12 | g.56004986A>G | CA385298769 | SUOX | c.1597A>G (p.Ser533Gly) c.1618A>G (p.Ser540Gly) | |
| 12 | g.56004986A>T | CA385298772 | SUOX | c.1597A>T (p.Ser533Cys) c.1618A>T (p.Ser540Cys) | |
| 12 | g.56004987G>A | CA385298777 | SUOX | c.1598G>A (p.Ser533Asn) c.1619G>A (p.Ser540Asn) | |
| 12 | g.56004987G>C | CA385298773 | SUOX | c.1598G>C (p.Ser533Thr) c.1619G>C (p.Ser540Thr) | |
| 12 | g.56004987G>T | CA385298774 | SUOX | c.1598G>T (p.Ser533Ile) c.1619G>T (p.Ser540Ile) | |
| 12 | g.56004988C>A | CA385298781 | SUOX | c.1599C>A (p.Ser533Arg) c.1620C>A (p.Ser540Arg) | |
| 12 | g.56004988C= | CA2038198123 | SUOX | c.1599C= (p.Ser533=) c.1620C= (p.Ser540=) | |
| 12 | g.56004988C>G | CA385298786 | SUOX | c.1599C>G (p.Ser533Arg) c.1620C>G (p.Ser540Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004988C>T | CA480180263 | SUOX | c.1599C>T (p.Ser533=) c.1620C>T (p.Ser540=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56004990_56005008del | CA480180265 | SUOX | c.1601_1619del (p.Asn534MetfsTer?) c.1622_1640del (p.Asn541MetfsTer?) | |
| 12 | g.56004989A>C | CA385298789 | SUOX | c.1600A>C (p.Asn534His) c.1621A>C (p.Asn541His) | |
| 12 | g.56004989A>G | CA385298794 | SUOX | c.1600A>G (p.Asn534Asp) c.1621A>G (p.Asn541Asp) | |
| 12 | g.56004989A>T | CA385298801 | SUOX | c.1600A>T (p.Asn534Tyr) c.1621A>T (p.Asn541Tyr) | |
| 12 | g.56004990A>C | CA385298808 | SUOX | c.1601A>C (p.Asn534Thr) c.1622A>C (p.Asn541Thr) | |
| 12 | g.56004990A>G | CA385298806 | SUOX | c.1601A>G (p.Asn534Ser) c.1622A>G (p.Asn541Ser) | |
| 12 | g.56004990A>T | CA385298807 | SUOX | c.1601A>T (p.Asn534Ile) c.1622A>T (p.Asn541Ile) | |
| 12 | g.56004991T>A | CA385298814 | SUOX | c.1602T>A (p.Asn534Lys) c.1623T>A (p.Asn541Lys) | |
| 12 | g.56004991T>C | CA480180276 | SUOX | c.1602T>C (p.Asn534=) c.1623T>C (p.Asn541=) | |
| 12 | g.56004991T>G | CA385298820 | SUOX | c.1602T>G (p.Asn534Lys) c.1623T>G (p.Asn541Lys) | |
| 12 | g.56004992G>A | CA385298833 | SUOX | c.1603G>A (p.Ala535Thr) c.1624G>A (p.Ala542Thr) | |
| 12 | g.56004992G>C | CA385298841 | SUOX | c.1603G>C (p.Ala535Pro) c.1624G>C (p.Ala542Pro) | |
| 12 | g.56004992G>T | CA385298845 | SUOX | c.1603G>T (p.Ala535Ser) c.1624G>T (p.Ala542Ser) | |
| 12 | g.56004993C>A | CA385298855 | SUOX | c.1604C>A (p.Ala535Asp) c.1625C>A (p.Ala542Asp) | |
| 12 | g.56004993C= | CA2038198124 | SUOX | c.1604C= (p.Ala535=) c.1625C= (p.Ala542=) | |
| 12 | g.56004993C>G | CA385298856 | SUOX | c.1604C>G (p.Ala535Gly) c.1625C>G (p.Ala542Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56004993C>T | CA385298859 | SUOX | c.1604C>T (p.Ala535Val) c.1625C>T (p.Ala542Val) | gnomAD v4 |
| 12 | g.56004994C>A | CA480180285 | SUOX | c.1605C>A (p.Ala535=) c.1626C>A (p.Ala542=) | |
| 12 | g.56004994C= | CA2038198125 | SUOX | c.1605C= (p.Ala535=) c.1626C= (p.Ala542=) | |
| 12 | g.56004994C>G | CA6621189 | SUOX | c.1605C>G (p.Ala535=) c.1626C>G (p.Ala542=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56004994C>T | CA480180287 | SUOX | c.1605C>T (p.Ala535=) c.1626C>T (p.Ala542=) | gnomAD v4 |
| 12 | g.56004995T>A | CA385298900 | SUOX | c.1606T>A (p.Trp536Arg) c.1627T>A (p.Trp543Arg) | |
| 12 | g.56004995T>C | CA385298901 | SUOX | c.1606T>C (p.Trp536Arg) c.1627T>C (p.Trp543Arg) | |
| 12 | g.56004995T>G | CA385298903 | SUOX | c.1606T>G (p.Trp536Gly) c.1627T>G (p.Trp543Gly) | |
| 12 | g.56004996G>A | CA385298912 | SUOX | c.1607G>A (p.Trp536Ter) c.1628G>A (p.Trp543Ter) | |
| 12 | g.56004996G>C | CA385298926 | SUOX | c.1607G>C (p.Trp536Ser) c.1628G>C (p.Trp543Ser) | |
| 12 | g.56004996G>T | CA385298921 | SUOX | c.1607G>T (p.Trp536Leu) c.1628G>T (p.Trp543Leu) | |
| 12 | g.56004997G>A | CA385298930 | SUOX | c.1608G>A (p.Trp536Ter) c.1629G>A (p.Trp543Ter) | |
| 12 | g.56004997G>C | CA385298937 | SUOX | c.1608G>C (p.Trp536Cys) c.1629G>C (p.Trp543Cys) | |
| 12 | g.56004997G>T | CA385298935 | SUOX | c.1608G>T (p.Trp536Cys) c.1629G>T (p.Trp543Cys) | COSMIC |
| 12 | g.56004998C>A | CA385298938 | SUOX | c.1609C>A (p.His537Asn) c.1630C>A (p.His544Asn) | |
| 12 | g.56004998C>G | CA385298941 | SUOX | c.1609C>G (p.His537Asp) c.1630C>G (p.His544Asp) | |
| 12 | g.56004998C>T | CA385298946 | SUOX | c.1609C>T (p.His537Tyr) c.1630C>T (p.His544Tyr) | |
| 12 | g.56004999A>C | CA385298952 | SUOX | c.1610A>C (p.His537Pro) c.1631A>C (p.His544Pro) | |
| 12 | g.56004999A>G | CA385298957 | SUOX | c.1610A>G (p.His537Arg) c.1631A>G (p.His544Arg) | gnomAD v4 |
| 12 | g.56004999A>T | CA385298963 | SUOX | c.1610A>T (p.His537Leu) c.1631A>T (p.His544Leu) | |
| 12 | g.56005000T>A | CA385298982 | SUOX | c.1611T>A (p.His537Gln) c.1632T>A (p.His544Gln) | |
| 12 | g.56005000T>C | CA480180296 | SUOX | c.1611T>C (p.His537=) c.1632T>C (p.His544=) | |
| 12 | g.56005000T>G | CA385298992 | SUOX | c.1611T>G (p.His537Gln) c.1632T>G (p.His544Gln) | |
| 12 | g.56005001C>A | CA385298994 | SUOX | c.1612C>A (p.Arg538Ser) c.1633C>A (p.Arg545Ser) | |
| 12 | g.56005001C= | CA2038198126 | SUOX | c.1612C= (p.Arg538=) c.1633C= (p.Arg545=) | |
| 12 | g.56005001C>G | CA385298995 | SUOX | c.1612C>G (p.Arg538Gly) c.1633C>G (p.Arg545Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56005001C>T | CA6621190 | SUOX | c.1612C>T (p.Arg538Cys) c.1633C>T (p.Arg545Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56005002G>A | CA6621191 | SUOX | c.1613G>A (p.Arg538His) c.1634G>A (p.Arg545His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.56005002G>C | CA385299002 | SUOX | c.1613G>C (p.Arg538Pro) c.1634G>C (p.Arg545Pro) | dbSNP gnomAD v4 |
| 12 | g.56005002G= | CA2038198127 | SUOX | c.1613G= (p.Arg538=) c.1634G= (p.Arg545=) | |
| 12 | g.56005002G>T | CA385299000 | SUOX | c.1613G>T (p.Arg538Leu) c.1634G>T (p.Arg545Leu) | |
| 12 | g.56005003T>A | CA480180297 | SUOX | c.1614T>A (p.Arg538=) c.1635T>A (p.Arg545=) | |
| 12 | g.56005003T>C | CA480180299 | SUOX | c.1614T>C (p.Arg538=) c.1635T>C (p.Arg545=) | |
| 12 | g.56005003T>G | CA480180301 | SUOX | c.1614T>G (p.Arg538=) c.1635T>G (p.Arg545=) | |
| 12 | g.56005004G>A | CA385299017 | SUOX | c.1615G>A (p.Val539Ile) c.1636G>A (p.Val546Ile) | dbSNP gnomAD v4 |
| 12 | g.56005004G>C | CA385299020 | SUOX | c.1615G>C (p.Val539Leu) c.1636G>C (p.Val546Leu) | |
| 12 | g.56005004G= | CA2038198128 | SUOX | c.1615G= (p.Val539=) c.1636G= (p.Val546=) | |
| 12 | g.56005004G>T | CA385299028 | SUOX | c.1615G>T (p.Val539Phe) c.1636G>T (p.Val546Phe) | |
| 12 | g.56005005T>A | CA385299031 | SUOX | c.1616T>A (p.Val539Asp) c.1637T>A (p.Val546Asp) | |
| 12 | g.56005005T>C | CA385299032 | SUOX | c.1616T>C (p.Val539Ala) c.1637T>C (p.Val546Ala) | |
| 12 | g.56005005T>G | CA385299036 | SUOX | c.1616T>G (p.Val539Gly) c.1637T>G (p.Val546Gly) | |
| 12 | g.56005006C>A | CA480180309 | SUOX | c.1617C>A (p.Val539=) c.1638C>A (p.Val546=) | |
| 12 | g.56005006C>G | CA480180311 | SUOX | c.1617C>G (p.Val539=) c.1638C>G (p.Val546=) | |
| 12 | g.56005006C>T | CA480180313 | SUOX | c.1617C>T (p.Val539=) c.1638C>T (p.Val546=) | COSMIC |
| 12 | g.56005007C>A | CA385299039 | SUOX | c.1618C>A (p.His540Asn) c.1639C>A (p.His547Asn) | |
| 12 | g.56005007C>G | CA385299041 | SUOX | c.1618C>G (p.His540Asp) c.1639C>G (p.His547Asp) | |
| 12 | g.56005007C>T | CA385299044 | SUOX | c.1618C>T (p.His540Tyr) c.1639C>T (p.His547Tyr) | |
| 12 | g.56005008A= | CA2038198129 | SUOX | c.1619A= (p.His540=) c.1640A= (p.His547=) | |
| 12 | g.56005008A>C | CA385299054 | SUOX | c.1619A>C (p.His540Pro) c.1640A>C (p.His547Pro) | |
| 12 | g.56005008A>G | CA6621192 | SUOX | c.1619A>G (p.His540Arg) c.1640A>G (p.His547Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56005008A>T | CA385299085 | SUOX | c.1619A>T (p.His540Leu) c.1640A>T (p.His547Leu) | |
| 12 | g.56005009T>A | CA385299088 | SUOX | c.1620T>A (p.His540Gln) c.1641T>A (p.His547Gln) | |
| 12 | g.56005009T>C | CA480180323 | SUOX | c.1620T>C (p.His540=) c.1641T>C (p.His547=) | ClinVar dbSNP |
| 12 | g.56005009T>G | CA385299090 | SUOX | c.1620T>G (p.His540Gln) c.1641T>G (p.His547Gln) | |
| 12 | g.56005009T= | CA2038198130 | SUOX | c.1620T= (p.His540=) c.1641T= (p.His547=) | |
| 12 | g.56005010G>A | CA385299095 | SUOX | c.1621G>A (p.Val541Ile) c.1642G>A (p.Val548Ile) | gnomAD v4 |
| 12 | g.56005010G>C | CA385299100 | SUOX | c.1621G>C (p.Val541Leu) c.1642G>C (p.Val548Leu) | |
| 12 | g.56005010G>T | CA385299101 | SUOX | c.1621G>T (p.Val541Phe) c.1642G>T (p.Val548Phe) | |
| 12 | g.56005011T>A | CA385299102 | SUOX | c.1622T>A (p.Val541Asp) c.1643T>A (p.Val548Asp) | |
| 12 | g.56005011T>C | CA385299103 | SUOX | c.1622T>C (p.Val541Ala) c.1643T>C (p.Val548Ala) | |
| 12 | g.56005011T>G | CA385299108 | SUOX | c.1622T>G (p.Val541Gly) c.1643T>G (p.Val548Gly) | |
| 12 | g.56005012C>A | CA480180331 | SUOX | c.1623C>A (p.Val541=) c.1644C>A (p.Val548=) | |
| 12 | g.56005012C= | CA2038198131 | SUOX | c.1623C= (p.Val541=) c.1644C= (p.Val548=) | |
| 12 | g.56005012C>G | CA480180333 | SUOX | c.1623C>G (p.Val541=) c.1644C>G (p.Val548=) | |
| 12 | g.56005012C>T | CA6621193 | SUOX | c.1623C>T (p.Val541=) c.1644C>T (p.Val548=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56005013T>A | CA385299126 | SUOX | c.1624T>A (p.Tyr542Asn) c.1645T>A (p.Tyr549Asn) | |
| 12 | g.56005013T>C | CA385299130 | SUOX | c.1624T>C (p.Tyr542His) c.1645T>C (p.Tyr549His) | |
| 12 | g.56005013T>G | CA385299133 | SUOX | c.1624T>G (p.Tyr542Asp) c.1645T>G (p.Tyr549Asp) | |
| 12 | g.56005014_56005015del | CA2619249962 | SUOX | c.1625_1626del (p.Tyr542CysfsTer?) c.1646_1647del (p.Tyr549CysfsTer?) | gnomAD v4 |
| 12 | g.56005014A= | CA2038198132 | SUOX | c.1625A= (p.Tyr542=) c.1646A= (p.Tyr549=) | |
| 12 | g.56005014A>C | CA385299134 | SUOX | c.1625A>C (p.Tyr542Ser) c.1646A>C (p.Tyr549Ser) | |
| 12 | g.56005014A>G | CA6621194 | SUOX | c.1625A>G (p.Tyr542Cys) c.1646A>G (p.Tyr549Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56005014A>T | CA385299139 | SUOX | c.1625A>T (p.Tyr542Phe) c.1646A>T (p.Tyr549Phe) | |
| 12 | g.56005015T>A | CA385299153 | SUOX | c.1626T>A (p.Tyr542Ter) c.1647T>A (p.Tyr549Ter) | |
| 12 | g.56005015T>C | CA480180345 | SUOX | c.1626T>C (p.Tyr542=) c.1647T>C (p.Tyr549=) | |
| 12 | g.56005015T>G | CA385299149 | SUOX | c.1626T>G (p.Tyr542Ter) c.1647T>G (p.Tyr549Ter) | |
| 12 | g.56005016G>A | CA385299170 | SUOX | c.1627G>A (p.Val543Ile) c.1648G>A (p.Val550Ile) | |
| 12 | g.56005016G>C | CA385299175 | SUOX | c.1627G>C (p.Val543Leu) c.1648G>C (p.Val550Leu) | |
| 12 | g.56005016G>T | CA385299182 | SUOX | c.1627G>T (p.Val543Phe) c.1648G>T (p.Val550Phe) | gnomAD v4 |
| 12 | g.56005017T>A | CA385299188 | SUOX | c.1628T>A (p.Val543Asp) c.1649T>A (p.Val550Asp) | |
| 12 | g.56005017T>C | CA385299194 | SUOX | c.1628T>C (p.Val543Ala) c.1649T>C (p.Val550Ala) | |
| 12 | g.56005017T>G | CA385299197 | SUOX | c.1628T>G (p.Val543Gly) c.1649T>G (p.Val550Gly) | |
| 12 | g.56005018C>A | CA480180354 | SUOX | c.1629C>A (p.Val543=) c.1650C>A (p.Val550=) | |
| 12 | g.56005018C>G | CA480180356 | SUOX | c.1629C>G (p.Val543=) c.1650C>G (p.Val550=) | |
| 12 | g.56005018C>T | CA480180357 | SUOX | c.1629C>T (p.Val543=) c.1650C>T (p.Val550=) | |
| 12 | g.56005019T>A | CA385299200 | SUOX | c.1630T>A (p.Ser544Thr) c.1651T>A (p.Ser551Thr) | |
| 12 | g.56005019T>C | CA385299204 | SUOX | c.1630T>C (p.Ser544Pro) c.1651T>C (p.Ser551Pro) | |
| 12 | g.56005019T>G | CA385299206 | SUOX | c.1630T>G (p.Ser544Ala) c.1651T>G (p.Ser551Ala) | |
| 12 | g.56005019T= | CA2038198133 | SUOX | c.1630T= (p.Ser544=) c.1651T= (p.Ser551=) | |
| 12 | g.56005020C>A | CA385299213 | SUOX | c.1631C>A (p.Ser544Tyr) c.1652C>A (p.Ser551Tyr) | |
| 12 | g.56005020C>G | CA385299217 | SUOX | c.1631C>G (p.Ser544Cys) c.1652C>G (p.Ser551Cys) | |
| 12 | g.56005020C>T | CA385299218 | SUOX | c.1631C>T (p.Ser544Phe) c.1652C>T (p.Ser551Phe) | |
| 12 | g.56005023dup | CA2038198134 | SUOX | c.1634dup (p.Ter546MetextTer?) c.1655dup (p.Ter553MetextTer?) | dbSNP |
| 12 | g.56005021C>A | CA480180366 | SUOX | c.1632C>A (p.Ser544=) c.1653C>A (p.Ser551=) | gnomAD v4 |
| 12 | g.56005021C>G | CA480180370 | SUOX | c.1632C>G (p.Ser544=) c.1653C>G (p.Ser551=) | |
| 12 | g.56005021C>T | CA480180368 | SUOX | c.1632C>T (p.Ser544=) c.1653C>T (p.Ser551=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.56005022C>A | CA385299222 | SUOX | c.1633C>A (p.Pro545Thr) c.1654C>A (p.Pro552Thr) | gnomAD v4 |
| 12 | g.56005022C>G | CA385299229 | SUOX | c.1633C>G (p.Pro545Ala) c.1654C>G (p.Pro552Ala) | |
| 12 | g.56005022C>T | CA385299226 | SUOX | c.1633C>T (p.Pro545Ser) c.1654C>T (p.Pro552Ser) | gnomAD v4 |
| 12 | g.56005023C>A | CA385299241 | SUOX | c.1634C>A (p.Pro545Gln) c.1655C>A (p.Pro552Gln) | |
| 12 | g.56005023C>G | CA385299248 | SUOX | c.1634C>G (p.Pro545Arg) c.1655C>G (p.Pro552Arg) | |
| 12 | g.56005023C>T | CA385299245 | SUOX | c.1634C>T (p.Pro545Leu) c.1655C>T (p.Pro552Leu) | COSMIC |
| 12 | g.56005024A= | CA2038198135 | SUOX | c.1635A= (p.Pro545=) c.1656A= (p.Pro552=) | |
| 12 | g.56005024A>C | CA480180379 | SUOX | c.1635A>C (p.Pro545=) c.1656A>C (p.Pro552=) | |
| 12 | g.56005024A>G | CA480180380 | SUOX | c.1635A>G (p.Pro545=) c.1656A>G (p.Pro552=) | dbSNP gnomAD v4 |
| 12 | g.56005024A>T | CA480180382 | SUOX | c.1635A>T (p.Pro545=) c.1656A>T (p.Pro552=) | |
| 12 | g.56005025T>A | CA6621195 | SUOX | c.1636T>A (p.Ter546Arg) c.1657T>A (p.Ter553Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56005025T>C | CA385299253 | SUOX | c.1636T>C (p.Ter546Arg) c.1657T>C (p.Ter553Arg) | gnomAD v4 |
| 12 | g.56005025T>G | CA385299250 | SUOX | c.1636T>G (p.Ter546Gly) c.1657T>G (p.Ter553Gly) | |
| 12 | g.56005025T= | CA2038198136 | SUOX | c.1636T= (p.Ter546=) c.1657T= (p.Ter553=) | |
| 12 | g.56005026G>A | CA480180385 | SUOX | c.1637G>A (p.Ter546=) c.1658G>A (p.Ter553=) | |
| 12 | g.56005026G>C | CA385299255 | SUOX | c.1637G>C (p.Ter546Ser) c.1658G>C (p.Ter553Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56005026G= | CA2038198137 | SUOX | c.1637G= (p.Ter546=) c.1658G= (p.Ter553=) | |
| 12 | g.56005026G>T | CA385299258 | SUOX | c.1637G>T (p.Ter546Leu) c.1658G>T (p.Ter553Leu) | |
| 12 | g.56005027A>C | CA385299259 | SUOX | c.1638A>C (p.Ter546Cys) c.1659A>C (p.Ter553Cys) | |
| 12 | g.56005027A>G | CA385299260 | SUOX | c.1638A>G (p.Ter546Trp) c.1659A>G (p.Ter553Trp) | |
| 12 | g.56005027A>T | CA385299262 | SUOX | c.1638A>T (p.Ter546Cys) c.1659A>T (p.Ter553Cys) | |
| 12 | g.56005028G>A | CA605434624 | SUOX | c.*1G>A (n.*1G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56005028G= | CA2038198138 | SUOX | c.*1G= (n.*1G=) | |
| 12 | g.56005028G>T | CA2619249986 | SUOX | c.*1G>T (n.*1G>T) | gnomAD v4 |
| 12 | g.56005029C>A | CA2619249988 | SUOX | c.*2C>A (n.*2C>A) | gnomAD v4 |
| 12 | g.56005029C>G | CA2619249989 | SUOX | c.*2C>G (n.*2C>G) | gnomAD v4 |
| 12 | g.56005029C>T | CA2619249992 | SUOX | c.*2C>T (n.*2C>T) | gnomAD v4 |
| 12 | g.56005030A= | CA2038198139 | SUOX | c.*3A= (n.*3A=) | |
| 12 | g.56005030A>G | CA6621196 | SUOX | c.*3A>G (n.*3A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56005031T>A | CA6621197 | SUOX | c.*4T>A (n.*4T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.56005031T= | CA2038198140 | SUOX | c.*4T= (n.*4T=) | |
| 12 | g.56005033G>C | CA690169184 | SUOX | c.*6G>C (n.*6G>C) | dbSNP gnomAD v4 |
| 12 | g.56005033G= | CA2038198141 | SUOX | c.*6G= (n.*6G=) | |
| 12 | g.56005034A>G | CA2575186100 | SUOX | c.*7A>G (n.*7A>G) | gnomAD v4 |
| 12 | g.56005034A>T | CA2619250001 | SUOX | c.*7A>T (n.*7A>T) | gnomAD v4 |
| 12 | g.56005035A>G | CA2619250002 | SUOX | c.*8A>G (n.*8A>G) | gnomAD v4 |
| 12 | g.56005038G>A | CA6621198 | SUOX | c.*11G>A (n.*11G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56005038G= | CA2038198142 | SUOX | c.*11G= (n.*11G=) | |
| 12 | g.56005040G>C | CA6621199 | SUOX | c.*13G>C (n.*13G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56005040G= | CA2038198143 | SUOX | c.*13G= (n.*13G=) | |
| 12 | g.56005041C>A | CA2619250011 | SUOX | c.*14C>A (n.*14C>A) | gnomAD v4 |
| 12 | g.56005041C= | CA2038198144 | SUOX | c.*14C= (n.*14C=) | |
| 12 | g.56005041C>T | CA605434633 | SUOX | c.*14C>T (n.*14C>T) | dbSNP gnomAD v2 |
| 12 | g.56005042C>G | CA2619250013 | SUOX | c.*15C>G (n.*15C>G) | gnomAD v4 |
| 12 | g.56005044C>A | CA605434634 | SUOX | c.*17C>A (n.*17C>A) | dbSNP gnomAD v2 |
| 12 | g.56005044C= | CA2038198145 | SUOX | c.*17C= (n.*17C=) | |
| 12 | g.56005048C= | CA2038198146 | SUOX | c.*21C= (n.*21C=) | |
| 12 | g.56005048C>T | CA605434637 | SUOX | c.*21C>T (n.*21C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56005049A>C | CA2796096935 | SUOX | c.*22A>C (n.*22A>C) | |
| 12 | g.56005049A>G | CA2619250014 | SUOX | c.*22A>G (n.*22A>G) | gnomAD v4 |
| 12 | g.56005049A>T | CA2619250015 | SUOX | c.*22A>T (n.*22A>T) | gnomAD v4 |
| 12 | g.56005050C>A | CA2575186101 | SUOX | c.*23C>A (n.*23C>A) | |
| 12 | g.56005050C= | CA2038198147 | SUOX | c.*23C= (n.*23C=) | |
| 12 | g.56005050C>G | CA690169195 | SUOX | c.*23C>G (n.*23C>G) | dbSNP |
| 12 | g.56005051C= | CA2038198148 | SUOX | c.*24C= (n.*24C=) | |
| 12 | g.56005051C>T | CA6621200 | SUOX | c.*24C>T (n.*24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56005053C>A | CA2619250023 | SUOX | c.*26C>A (n.*26C>A) | gnomAD v4 |
| 12 | g.56005053C= | CA2038198149 | SUOX | c.*26C= (n.*26C=) | |
| 12 | g.56005053C>G | CA6621201 | SUOX | c.*26C>G (n.*26C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56005056T>C | CA2619250028 | SUOX | c.*29T>C (n.*29T>C) | gnomAD v4 |
| 12 | g.56005056_56005057insTTTTGAGACAGAATCTCGCTTTGT | CA2796096936 | SUOX | c.*29_*30insTTTTGAGACAGAATCTCGCTTTGT (n.*29_*30insTTTTGAGACAGAATCTCGCTTTGT) | |
| 12 | g.56005057C= | CA2038198150 | SUOX | c.*30C= (n.*30C=) | |
| 12 | g.56005057C>T | CA237605382 | SUOX | c.*30C>T (n.*30C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.56005058C>T | CA2619250030 | SUOX | c.*31C>T (n.*31C>T) | gnomAD v4 |
| 12 | g.56005059C>A | CA2575186102 | SUOX | c.*32C>A (n.*32C>A) | |
| 12 | g.56005060C>A | CA2619250031 | SUOX | c.*33C>A (n.*33C>A) | gnomAD v4 |
| 12 | g.56005060C= | CA2038198151 | SUOX | c.*33C= (n.*33C=) | |
| 12 | g.56005060C>T | CA947977187 | SUOX | c.*33C>T (n.*33C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56005061A= | CA2038198152 | SUOX | c.*34A= (n.*34A=) | |
| 12 | g.56005061A>C | CA2619250032 | SUOX | c.*34A>C (n.*34A>C) | gnomAD v4 |
| 12 | g.56005061A>T | CA2038198153 | SUOX | c.*34A>T (n.*34A>T) | dbSNP |
| 12 | g.56005062C>A | CA605434645 | SUOX | c.*35C>A (n.*35C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.56005062C= | CA2038198154 | SUOX | c.*35C= (n.*35C=) | |
| 12 | g.56005062C>T | CA2038198155 | SUOX | c.*35C>T (n.*35C>T) | dbSNP gnomAD v4 |
| 12 | g.56005064del | CA2575186103 | SUOX | c.*37del (n.*37del) | |
| 12 | g.56005063C>A | CA690169200 | SUOX | c.*36C>A (n.*36C>A) | dbSNP gnomAD v4 |
| 12 | g.56005063C= | CA2038198156 | SUOX | c.*36C= (n.*36C=) | |
| 12 | g.56005063C>T | CA237605384 | SUOX | c.*36C>T (n.*36C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.56005065A>G | CA2575186104 | SUOX | c.*38A>G (n.*38A>G) | gnomAD v4 |