Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) |