Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.56004347G>A | CA385289951 | SUOX | c.958G>A (p.Gly320Arg) c.*146G>A (n.*146G>A) c.979G>A (p.Gly327Arg) | dbSNP gnomAD v2 |
12 | g.56004347G>C | CA385289952 | SUOX | c.958G>C (p.Gly320Arg) c.*146G>C (n.*146G>C) c.979G>C (p.Gly327Arg) | |
12 | g.56004347G= | CA2038197835 | SUOX | c.958G= (p.Gly320=) c.*146G= (n.*146G=) c.979G= (p.Gly327=) | |
12 | g.56004347G>T | CA385289961 | SUOX | c.958G>T (p.Gly320Ter) c.*146G>T (n.*146G>T) c.979G>T (p.Gly327Ter) | |
12 | g.56004347_56004350del | CA2619253685 | SUOX | c.958_961del (p.Gly320TrpfsTer?) c.*146_*149del (n.*146_*149del) c.979_982del (p.Gly327TrpfsTer?) | gnomAD v4 |
12 | g.56004348G>A | CA385289962 | SUOX | c.959G>A (p.Gly320Glu) c.*147G>A (n.*147G>A) c.980G>A (p.Gly327Glu) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.56004348G>C | CA385289963 | SUOX | c.959G>C (p.Gly320Ala) c.*147G>C (n.*147G>C) c.980G>C (p.Gly327Ala) | |
12 | g.56004348G= | CA2038197836 | SUOX | c.959G= (p.Gly320=) c.*147G= (n.*147G=) c.980G= (p.Gly327=) | |
12 | g.56004348G>T | CA385289964 | SUOX | c.959G>T (p.Gly320Val) c.*147G>T (n.*147G>T) c.980G>T (p.Gly327Val) | gnomAD v4 COSMIC |
12 | g.56004349A>C | CA480366170 | SUOX | c.960A>C (p.Gly320=) c.*148A>C (n.*148A>C) c.981A>C (p.Gly327=) | |
12 | g.56004349A>G | CA480366169 | SUOX | c.960A>G (p.Gly320=) c.*148A>G (n.*148A>G) c.981A>G (p.Gly327=) | gnomAD v4 |
12 | g.56004349A>T | CA480366168 | SUOX | c.960A>T (p.Gly320=) c.*148A>T (n.*148A>T) c.981A>T (p.Gly327=) | |
12 | g.56004350C>A | CA385289968 | SUOX | c.961C>A (p.Leu321Met) c.*149C>A (n.*149C>A) c.982C>A (p.Leu328Met) | |
12 | g.56004350C>G | CA385289993 | SUOX | c.961C>G (p.Leu321Val) c.*149C>G (n.*149C>G) c.982C>G (p.Leu328Val) | |
12 | g.56004350C>T | CA480366171 | SUOX | c.961C>T (p.Leu321=) c.*149C>T (n.*149C>T) c.982C>T (p.Leu328=) | gnomAD v4 |
12 | g.56004351T>A | CA385289999 | SUOX | c.962T>A (p.Leu321Gln) c.*150T>A (n.*150T>A) c.983T>A (p.Leu328Gln) | |
12 | g.56004351T>C | CA385290003 | SUOX | c.962T>C (p.Leu321Pro) c.*150T>C (n.*150T>C) c.983T>C (p.Leu328Pro) | |
12 | g.56004351T>G | CA385290001 | SUOX | c.962T>G (p.Leu321Arg) c.*150T>G (n.*150T>G) c.983T>G (p.Leu328Arg) | gnomAD v4 |
12 | g.56004352G>A | CA480366175 | SUOX | c.963G>A (p.Leu321=) c.*151G>A (n.*151G>A) c.984G>A (p.Leu328=) | |
12 | g.56004352G>C | CA480366176 | SUOX | c.963G>C (p.Leu321=) c.*151G>C (n.*151G>C) c.984G>C (p.Leu328=) | |
12 | g.56004352G>T | CA480366177 | SUOX | c.963G>T (p.Leu321=) c.*151G>T (n.*151G>T) c.984G>T (p.Leu328=) | |
12 | g.56004352_56004360del | CA2619253696 | SUOX | c.963_971del (p.Asp322_Asp324del) c.*151_*159del (n.*151_*159del) c.984_992del (p.Asp329_Asp331del) | gnomAD v4 |
12 | g.56004353G>A | CA385290008 | SUOX | c.964G>A (p.Asp322Asn) c.*152G>A (n.*152G>A) c.985G>A (p.Asp329Asn) | |
12 | g.56004353G>C | CA385290012 | SUOX | c.964G>C (p.Asp322His) c.*152G>C (n.*152G>C) c.985G>C (p.Asp329His) | |
12 | g.56004353G>T | CA385290020 | SUOX | c.964G>T (p.Asp322Tyr) c.*152G>T (n.*152G>T) c.985G>T (p.Asp329Tyr) | |
12 | g.56004354A>C | CA385290037 | SUOX | c.965A>C (p.Asp322Ala) c.*153A>C (n.*153A>C) c.986A>C (p.Asp329Ala) | |
12 | g.56004354A>G | CA385290048 | SUOX | c.965A>G (p.Asp322Gly) c.*153A>G (n.*153A>G) c.986A>G (p.Asp329Gly) | |
12 | g.56004354A>T | CA385290053 | SUOX | c.965A>T (p.Asp322Val) c.*153A>T (n.*153A>T) c.986A>T (p.Asp329Val) | |
12 | g.56004355C>A | CA385290060 | SUOX | c.966C>A (p.Asp322Glu) c.*154C>A (n.*154C>A) c.987C>A (p.Asp329Glu) | |
12 | g.56004355C>G | CA385290064 | SUOX | c.966C>G (p.Asp322Glu) c.*154C>G (n.*154C>G) c.987C>G (p.Asp329Glu) | COSMIC |
12 | g.56004355C>T | CA480366181 | SUOX | c.966C>T (p.Asp322=) c.*154C>T (n.*154C>T) c.987C>T (p.Asp329=) | gnomAD v4 |
12 | g.56004356T>A | CA385290065 | SUOX | c.967T>A (p.Ser323Thr) c.*155T>A (n.*155T>A) c.988T>A (p.Ser330Thr) | |
12 | g.56004356T>C | CA385290067 | SUOX | c.967T>C (p.Ser323Pro) c.*155T>C (n.*155T>C) c.988T>C (p.Ser330Pro) | gnomAD v4 |
12 | g.56004356T>G | CA385290069 | SUOX | c.967T>G (p.Ser323Ala) c.*155T>G (n.*155T>G) c.988T>G (p.Ser330Ala) | |
12 | g.56004357C>A | CA385290073 | SUOX | c.968C>A (p.Ser323Ter) c.*156C>A (n.*156C>A) c.989C>A (p.Ser330Ter) | |
12 | g.56004357C= | CA2038197837 | SUOX | c.968C= (p.Ser323=) c.*156C= (n.*156C=) c.989C= (p.Ser330=) | |
12 | g.56004357C>G | CA385290074 | SUOX | c.968C>G (p.Ser323Ter) c.*156C>G (n.*156C>G) c.989C>G (p.Ser330Ter) | dbSNP COSMIC |
12 | g.56004357C>T | CA6621070 | SUOX | c.968C>T (p.Ser323Leu) c.*156C>T (n.*156C>T) c.989C>T (p.Ser330Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004358A>C | CA480366185 | SUOX | c.969A>C (p.Ser323=) c.*157A>C (n.*157A>C) c.990A>C (p.Ser330=) | |
12 | g.56004358A>G | CA480366186 | SUOX | c.969A>G (p.Ser323=) c.*157A>G (n.*157A>G) c.990A>G (p.Ser330=) | |
12 | g.56004358A>T | CA480366187 | SUOX | c.969A>T (p.Ser323=) c.*157A>T (n.*157A>T) c.990A>T (p.Ser330=) | |
12 | g.56004359G>A | CA385290078 | SUOX | c.970G>A (p.Asp324Asn) c.*158G>A (n.*158G>A) c.991G>A (p.Asp331Asn) | |
12 | g.56004359G>C | CA385290084 | SUOX | c.970G>C (p.Asp324His) c.*158G>C (n.*158G>C) c.991G>C (p.Asp331His) | |
12 | g.56004359G>T | CA385290079 | SUOX | c.970G>T (p.Asp324Tyr) c.*158G>T (n.*158G>T) c.991G>T (p.Asp331Tyr) | |
12 | g.56004360A= | CA2038197838 | SUOX | c.971A= (p.Asp324=) c.*159A= (n.*159A=) c.992A= (p.Asp331=) | |
12 | g.56004360A>C | CA385290088 | SUOX | c.971A>C (p.Asp324Ala) c.*159A>C (n.*159A>C) c.992A>C (p.Asp331Ala) | dbSNP gnomAD v4 |
12 | g.56004360A>G | CA385290089 | SUOX | c.971A>G (p.Asp324Gly) c.*159A>G (n.*159A>G) c.992A>G (p.Asp331Gly) | |
12 | g.56004360A>T | CA385290090 | SUOX | c.971A>T (p.Asp324Val) c.*159A>T (n.*159A>T) c.992A>T (p.Asp331Val) | |
12 | g.56004361C>A | CA6621071 | SUOX | c.972C>A (p.Asp324Glu) c.*160C>A (n.*160C>A) c.993C>A (p.Asp331Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004361C= | CA2038197839 | SUOX | c.972C= (p.Asp324=) c.*160C= (n.*160C=) c.993C= (p.Asp331=) | |
12 | g.56004361C>G | CA385290097 | SUOX | c.972C>G (p.Asp324Glu) c.*160C>G (n.*160C>G) c.993C>G (p.Asp331Glu) | |
12 | g.56004361C>T | CA480366191 | SUOX | c.972C>T (p.Asp324=) c.*160C>T (n.*160C>T) c.993C>T (p.Asp331=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004362C>A | CA385290109 | SUOX | c.973C>A (p.Pro325Thr) c.*161C>A (n.*161C>A) c.994C>A (p.Pro332Thr) | |
12 | g.56004362C>G | CA385290107 | SUOX | c.973C>G (p.Pro325Ala) c.*161C>G (n.*161C>G) c.994C>G (p.Pro332Ala) | |
12 | g.56004362C>T | CA385290105 | SUOX | c.973C>T (p.Pro325Ser) c.*161C>T (n.*161C>T) c.994C>T (p.Pro332Ser) | gnomAD v4 COSMIC |
12 | g.56004363C>A | CA385290118 | SUOX | c.974C>A (p.Pro325His) c.*162C>A (n.*162C>A) c.995C>A (p.Pro332His) | |
12 | g.56004363C>G | CA385290119 | SUOX | c.974C>G (p.Pro325Arg) c.*162C>G (n.*162C>G) c.995C>G (p.Pro332Arg) | |
12 | g.56004363C>T | CA385290121 | SUOX | c.974C>T (p.Pro325Leu) c.*162C>T (n.*162C>T) c.995C>T (p.Pro332Leu) | |
12 | g.56004364T>A | CA480366196 | SUOX | c.975T>A (p.Pro325=) c.*163T>A (n.*163T>A) c.996T>A (p.Pro332=) | |
12 | g.56004364T>C | CA480366197 | SUOX | c.975T>C (p.Pro325=) c.*163T>C (n.*163T>C) c.996T>C (p.Pro332=) | gnomAD v4 |
12 | g.56004364T>G | CA480366199 | SUOX | c.975T>G (p.Pro325=) c.*163T>G (n.*163T>G) c.996T>G (p.Pro332=) | |
12 | g.56004365A= | CA2038197840 | SUOX | c.976A= (p.Thr326=) c.*164A= (n.*164A=) c.997A= (p.Thr333=) | |
12 | g.56004365A>C | CA385290122 | SUOX | c.976A>C (p.Thr326Pro) c.*164A>C (n.*164A>C) c.997A>C (p.Thr333Pro) | |
12 | g.56004365A>G | CA6621072 | SUOX | c.976A>G (p.Thr326Ala) c.*164A>G (n.*164A>G) c.997A>G (p.Thr333Ala) | dbSNP ExAC gnomAD v2 |
12 | g.56004365A>T | CA385290123 | SUOX | c.976A>T (p.Thr326Ser) c.*164A>T (n.*164A>T) c.997A>T (p.Thr333Ser) | |
12 | g.56004366C>A | CA6621073 | SUOX | c.977C>A (p.Thr326Asn) c.*165C>A (n.*165C>A) c.998C>A (p.Thr333Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004366C= | CA2038197841 | SUOX | c.977C= (p.Thr326=) c.*165C= (n.*165C=) c.998C= (p.Thr333=) | |
12 | g.56004366C>G | CA385290135 | SUOX | c.977C>G (p.Thr326Ser) c.*165C>G (n.*165C>G) c.998C>G (p.Thr333Ser) | |
12 | g.56004366C>T | CA385290137 | SUOX | c.977C>T (p.Thr326Ile) c.*165C>T (n.*165C>T) c.998C>T (p.Thr333Ile) | |
12 | g.56004367T>A | CA480366200 | SUOX | c.978T>A (p.Thr326=) c.*166T>A (n.*166T>A) c.999T>A (p.Thr333=) | |
12 | g.56004367T>C | CA480366201 | SUOX | c.978T>C (p.Thr326=) c.*166T>C (n.*166T>C) c.999T>C (p.Thr333=) | |
12 | g.56004367T>G | CA480366203 | SUOX | c.978T>G (p.Thr326=) c.*166T>G (n.*166T>G) c.999T>G (p.Thr333=) | |
12 | g.56004368G>A | CA385290143 | SUOX | c.979G>A (p.Gly327Arg) c.*167G>A (n.*167G>A) c.1000G>A (p.Gly334Arg) | dbSNP gnomAD v4 |
12 | g.56004368G>C | CA385290148 | SUOX | c.979G>C (p.Gly327Arg) c.*167G>C (n.*167G>C) c.1000G>C (p.Gly334Arg) | |
12 | g.56004368G= | CA2038197842 | SUOX | c.979G= (p.Gly327=) c.*167G= (n.*167G=) c.1000G= (p.Gly334=) | |
12 | g.56004368G>T | CA385290154 | SUOX | c.979G>T (p.Gly327Trp) c.*167G>T (n.*167G>T) c.1000G>T (p.Gly334Trp) | |
12 | g.56004369G>A | CA385290158 | SUOX | c.980G>A (p.Gly327Glu) c.*168G>A (n.*168G>A) c.1001G>A (p.Gly334Glu) | |
12 | g.56004369G>C | CA385290161 | SUOX | c.980G>C (p.Gly327Ala) c.*168G>C (n.*168G>C) c.1001G>C (p.Gly334Ala) | |
12 | g.56004369G>T | CA385290165 | SUOX | c.980G>T (p.Gly327Val) c.*168G>T (n.*168G>T) c.1001G>T (p.Gly334Val) | |
12 | g.56004370G>A | CA480366208 | SUOX | c.981G>A (p.Gly327=) c.*169G>A (n.*169G>A) c.1002G>A (p.Gly334=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004370G>C | CA480366206 | SUOX | c.981G>C (p.Gly327=) c.*169G>C (n.*169G>C) c.1002G>C (p.Gly334=) | gnomAD v4 |
12 | g.56004370G= | CA2038197843 | SUOX | c.981G= (p.Gly327=) c.*169G= (n.*169G=) c.1002G= (p.Gly334=) | |
12 | g.56004370G>T | CA480366207 | SUOX | c.981G>T (p.Gly327=) c.*169G>T (n.*169G>T) c.1002G>T (p.Gly334=) | |
12 | g.56004371A>C | CA385290171 | SUOX | c.982A>C (p.Thr328Pro) c.*170A>C (n.*170A>C) c.1003A>C (p.Thr335Pro) | |
12 | g.56004371A>G | CA385290175 | SUOX | c.982A>G (p.Thr328Ala) c.*170A>G (n.*170A>G) c.1003A>G (p.Thr335Ala) | |
12 | g.56004371A>T | CA385290178 | SUOX | c.982A>T (p.Thr328Ser) c.*170A>T (n.*170A>T) c.1003A>T (p.Thr335Ser) | |
12 | g.56004372C>A | CA385290181 | SUOX | c.983C>A (p.Thr328Asn) c.*171C>A (n.*171C>A) c.1004C>A (p.Thr335Asn) | |
12 | g.56004372C= | CA2038197844 | SUOX | c.983C= (p.Thr328=) c.*171C= (n.*171C=) c.1004C= (p.Thr335=) | |
12 | g.56004372C>G | CA385290187 | SUOX | c.983C>G (p.Thr328Ser) c.*171C>G (n.*171C>G) c.1004C>G (p.Thr335Ser) | |
12 | g.56004372C>T | CA6621074 | SUOX | c.983C>T (p.Thr328Ile) c.*171C>T (n.*171C>T) c.1004C>T (p.Thr335Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004373T>A | CA480366210 | SUOX | c.984T>A (p.Thr328=) c.*172T>A (n.*172T>A) c.1005T>A (p.Thr335=) | |
12 | g.56004373T>C | CA480366216 | SUOX | c.984T>C (p.Thr328=) c.*172T>C (n.*172T>C) c.1005T>C (p.Thr335=) | |
12 | g.56004373T>G | CA480366217 | SUOX | c.984T>G (p.Thr328=) c.*172T>G (n.*172T>G) c.1005T>G (p.Thr335=) | |
12 | g.56004373dup | CA2619253738 | SUOX | c.984dup (p.Ala329CysfsTer15) c.*172dup (n.*172dup) c.1005dup (p.Ala336CysfsTer15) | gnomAD v4 |
12 | g.56004374G>A | CA6621075 | SUOX | c.985G>A (p.Ala329Thr) c.*173G>A (n.*173G>A) c.1006G>A (p.Ala336Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004374G>C | CA385290202 | SUOX | c.985G>C (p.Ala329Pro) c.*173G>C (n.*173G>C) c.1006G>C (p.Ala336Pro) | gnomAD v4 |
12 | g.56004374G= | CA2038197845 | SUOX | c.985G= (p.Ala329=) c.*173G= (n.*173G=) c.1006G= (p.Ala336=) | |
12 | g.56004374G>T | CA385290199 | SUOX | c.985G>T (p.Ala329Ser) c.*173G>T (n.*173G>T) c.1006G>T (p.Ala336Ser) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.56004375C>A | CA385290203 | SUOX | c.986C>A (p.Ala329Asp) c.*174C>A (n.*174C>A) c.1007C>A (p.Ala336Asp) | |
12 | g.56004375C>G | CA385290204 | SUOX | c.986C>G (p.Ala329Gly) c.*174C>G (n.*174C>G) c.1007C>G (p.Ala336Gly) | |
12 | g.56004375C>T | CA385290208 | SUOX | c.986C>T (p.Ala329Val) c.*174C>T (n.*174C>T) c.1007C>T (p.Ala336Val) | |
12 | g.56004376C>A | CA480366221 | SUOX | c.987C>A (p.Ala329=) c.*175C>A (n.*175C>A) c.1008C>A (p.Ala336=) | |
12 | g.56004376C>G | CA480366222 | SUOX | c.987C>G (p.Ala329=) c.*175C>G (n.*175C>G) c.1008C>G (p.Ala336=) | |
12 | g.56004376C>T | CA480366223 | SUOX | c.987C>T (p.Ala329=) c.*175C>T (n.*175C>T) c.1008C>T (p.Ala336=) | |
12 | g.56004377T>A | CA385290212 | SUOX | c.988T>A (p.Tyr330Asn) c.*176T>A (n.*176T>A) c.1009T>A (p.Tyr337Asn) | |
12 | g.56004377T>C | CA385290218 | SUOX | c.988T>C (p.Tyr330His) c.*176T>C (n.*176T>C) c.1009T>C (p.Tyr337His) | |
12 | g.56004377T>G | CA385290221 | SUOX | c.988T>G (p.Tyr330Asp) c.*176T>G (n.*176T>G) c.1009T>G (p.Tyr337Asp) | |
12 | g.56004378A= | CA2038197846 | SUOX | c.989A= (p.Tyr330=) c.*177A= (n.*177A=) c.1010A= (p.Tyr337=) | |
12 | g.56004378A>C | CA385290226 | SUOX | c.989A>C (p.Tyr330Ser) c.*177A>C (n.*177A>C) c.1010A>C (p.Tyr337Ser) | |
12 | g.56004378A>G | CA6621076 | SUOX | c.989A>G (p.Tyr330Cys) c.*177A>G (n.*177A>G) c.1010A>G (p.Tyr337Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004378A>T | CA385290227 | SUOX | c.989A>T (p.Tyr330Phe) c.*177A>T (n.*177A>T) c.1010A>T (p.Tyr337Phe) | gnomAD v4 |
12 | g.56004379T>A | CA385290228 | SUOX | c.990T>A (p.Tyr330Ter) c.*178T>A (n.*178T>A) c.1011T>A (p.Tyr337Ter) | |
12 | g.56004379T>C | CA480366228 | SUOX | c.990T>C (p.Tyr330=) c.*178T>C (n.*178T>C) c.1011T>C (p.Tyr337=) | |
12 | g.56004379T>G | CA385290230 | SUOX | c.990T>G (p.Tyr330Ter) c.*178T>G (n.*178T>G) c.1011T>G (p.Tyr337Ter) | |
12 | g.56004380G>A | CA385290243 | SUOX | c.991G>A (p.Gly331Arg) c.*179G>A (n.*179G>A) c.1012G>A (p.Gly338Arg) | |
12 | g.56004380G>C | CA385290240 | SUOX | c.991G>C (p.Gly331Arg) c.*179G>C (n.*179G>C) c.1012G>C (p.Gly338Arg) | |
12 | g.56004380G>T | CA385290236 | SUOX | c.991G>T (p.Gly331Ter) c.*179G>T (n.*179G>T) c.1012G>T (p.Gly338Ter) | |
12 | g.56004381G>A | CA385290247 | SUOX | c.992G>A (p.Gly331Glu) c.*180G>A (n.*180G>A) c.1013G>A (p.Gly338Glu) | |
12 | g.56004381G>C | CA385290253 | SUOX | c.992G>C (p.Gly331Ala) c.*180G>C (n.*180G>C) c.1013G>C (p.Gly338Ala) | |
12 | g.56004381G>T | CA385290257 | SUOX | c.992G>T (p.Gly331Val) c.*180G>T (n.*180G>T) c.1013G>T (p.Gly338Val) | |
12 | g.56004382A>C | CA480366230 | SUOX | c.993A>C (p.Gly331=) c.*181A>C (n.*181A>C) c.1014A>C (p.Gly338=) | gnomAD v4 |
12 | g.56004382A>G | CA480366231 | SUOX | c.993A>G (p.Gly331=) c.*181A>G (n.*181A>G) c.1014A>G (p.Gly338=) | |
12 | g.56004382A>T | CA480366232 | SUOX | c.993A>T (p.Gly331=) c.*181A>T (n.*181A>T) c.1014A>T (p.Gly338=) | |
12 | g.56004383G>A | CA385290263 | SUOX | c.994G>A (p.Ala332Thr) c.*182G>A (n.*182G>A) c.1015G>A (p.Ala339Thr) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.56004383G>C | CA385290267 | SUOX | c.994G>C (p.Ala332Pro) c.*182G>C (n.*182G>C) c.1015G>C (p.Ala339Pro) | |
12 | g.56004383G= | CA2038197847 | SUOX | c.994G= (p.Ala332=) c.*182G= (n.*182G=) c.1015G= (p.Ala339=) | |
12 | g.56004383G>T | CA385290269 | SUOX | c.994G>T (p.Ala332Ser) c.*182G>T (n.*182G>T) c.1015G>T (p.Ala339Ser) | |
12 | g.56004384C>A | CA385290272 | SUOX | c.995C>A (p.Ala332Glu) c.*183C>A (n.*183C>A) c.1016C>A (p.Ala339Glu) | |
12 | g.56004384C>G | CA385290273 | SUOX | c.995C>G (p.Ala332Gly) c.*183C>G (n.*183C>G) c.1016C>G (p.Ala339Gly) | |
12 | g.56004384C>T | CA385290274 | SUOX | c.995C>T (p.Ala332Val) c.*183C>T (n.*183C>T) c.1016C>T (p.Ala339Val) | |
12 | g.56004385A>C | CA480366235 | SUOX | c.996A>C (p.Ala332=) c.*184A>C (n.*184A>C) c.1017A>C (p.Ala339=) | |
12 | g.56004385A>G | CA480366236 | SUOX | c.996A>G (p.Ala332=) c.*184A>G (n.*184A>G) c.1017A>G (p.Ala339=) | |
12 | g.56004385A>T | CA480366237 | SUOX | c.996A>T (p.Ala332=) c.*184A>T (n.*184A>T) c.1017A>T (p.Ala339=) | |
12 | g.56004386T>A | CA385290277 | SUOX | c.997T>A (p.Ser333Thr) c.*185T>A (n.*185T>A) c.1018T>A (p.Ser340Thr) | |
12 | g.56004386T>C | CA385290285 | SUOX | c.997T>C (p.Ser333Pro) c.*185T>C (n.*185T>C) c.1018T>C (p.Ser340Pro) | gnomAD v4 |
12 | g.56004386T>G | CA385290286 | SUOX | c.997T>G (p.Ser333Ala) c.*185T>G (n.*185T>G) c.1018T>G (p.Ser340Ala) | |
12 | g.56004387C>A | CA385290293 | SUOX | c.998C>A (p.Ser333Tyr) c.*186C>A (n.*186C>A) c.1019C>A (p.Ser340Tyr) | |
12 | g.56004387C>G | CA385290292 | SUOX | c.998C>G (p.Ser333Cys) c.*186C>G (n.*186C>G) c.1019C>G (p.Ser340Cys) | |
12 | g.56004387C>T | CA385290289 | SUOX | c.998C>T (p.Ser333Phe) c.*186C>T (n.*186C>T) c.1019C>T (p.Ser340Phe) | |
12 | g.56004388C>A | CA480366241 | SUOX | c.999C>A (p.Ser333=) c.*187C>A (n.*187C>A) c.1020C>A (p.Ser340=) | |
12 | g.56004388C>G | CA480366242 | SUOX | c.999C>G (p.Ser333=) c.*187C>G (n.*187C>G) c.1020C>G (p.Ser340=) | |
12 | g.56004388C>T | CA480366243 | SUOX | c.999C>T (p.Ser333=) c.*187C>T (n.*187C>T) c.1020C>T (p.Ser340=) | |
12 | g.56004389A= | CA2038197848 | SUOX | c.1000A= (p.Ile334=) c.*188A= (n.*188A=) c.1021A= (p.Ile341=) | |
12 | g.56004389A>C | CA385290298 | SUOX | c.1000A>C (p.Ile334Leu) c.*188A>C (n.*188A>C) c.1021A>C (p.Ile341Leu) | |
12 | g.56004389A>G | CA385290296 | SUOX | c.1000A>G (p.Ile334Val) c.*188A>G (n.*188A>G) c.1021A>G (p.Ile341Val) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.56004389A>T | CA385290300 | SUOX | c.1000A>T (p.Ile334Phe) c.*188A>T (n.*188A>T) c.1021A>T (p.Ile341Phe) | |
12 | g.56004390T>A | CA385290303 | SUOX | c.1001T>A (p.Ile334Asn) c.*189T>A (n.*189T>A) c.1022T>A (p.Ile341Asn) | |
12 | g.56004390T>C | CA385290307 | SUOX | c.1001T>C (p.Ile334Thr) c.*189T>C (n.*189T>C) c.1022T>C (p.Ile341Thr) | |
12 | g.56004390T>G | CA385290310 | SUOX | c.1001T>G (p.Ile334Ser) c.*189T>G (n.*189T>G) c.1022T>G (p.Ile341Ser) | |
12 | g.56004391C>A | CA480366248 | SUOX | c.1002C>A (p.Ile334=) c.*190C>A (n.*190C>A) c.1023C>A (p.Ile341=) | |
12 | g.56004391C>G | CA385290312 | SUOX | c.1002C>G (p.Ile334Met) c.*190C>G (n.*190C>G) c.1023C>G (p.Ile341Met) | |
12 | g.56004391C>T | CA480366247 | SUOX | c.1002C>T (p.Ile334=) c.*190C>T (n.*190C>T) c.1023C>T (p.Ile341=) | |
12 | g.56004392C>A | CA385290316 | SUOX | c.1003C>A (p.Pro335Thr) c.*191C>A (n.*191C>A) c.1024C>A (p.Pro342Thr) | |
12 | g.56004392C= | CA2038197849 | SUOX | c.1003C= (p.Pro335=) c.*191C= (n.*191C=) c.1024C= (p.Pro342=) | |
12 | g.56004392C>G | CA385290318 | SUOX | c.1003C>G (p.Pro335Ala) c.*191C>G (n.*191C>G) c.1024C>G (p.Pro342Ala) | |
12 | g.56004392C>T | CA385290323 | SUOX | c.1003C>T (p.Pro335Ser) c.*191C>T (n.*191C>T) c.1024C>T (p.Pro342Ser) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004393C>A | CA385290327 | SUOX | c.1004C>A (p.Pro335His) c.*192C>A (n.*192C>A) c.1025C>A (p.Pro342His) | COSMIC |
12 | g.56004393C= | CA2038197850 | SUOX | c.1004C= (p.Pro335=) c.*192C= (n.*192C=) c.1025C= (p.Pro342=) | |
12 | g.56004393C>G | CA6621077 | SUOX | c.1004C>G (p.Pro335Arg) c.*192C>G (n.*192C>G) c.1025C>G (p.Pro342Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004393C>T | CA385290332 | SUOX | c.1004C>T (p.Pro335Leu) c.*192C>T (n.*192C>T) c.1025C>T (p.Pro342Leu) | gnomAD v4 |
12 | g.56004394T>A | CA480366252 | SUOX | c.1005T>A (p.Pro335=) c.*193T>A (n.*193T>A) c.1026T>A (p.Pro342=) | |
12 | g.56004394T>C | CA480366253 | SUOX | c.1005T>C (p.Pro335=) c.*193T>C (n.*193T>C) c.1026T>C (p.Pro342=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004394T>G | CA480366254 | SUOX | c.1005T>G (p.Pro335=) c.*193T>G (n.*193T>G) c.1026T>G (p.Pro342=) | |
12 | g.56004394T= | CA2038197851 | SUOX | c.1005T= (p.Pro335=) c.*193T= (n.*193T=) c.1026T= (p.Pro342=) | |
12 | g.56004395C>A | CA385290335 | SUOX | c.1006C>A (p.Leu336Met) c.*194C>A (n.*194C>A) c.1027C>A (p.Leu343Met) | |
12 | g.56004395C= | CA2038197852 | SUOX | c.1006C= (p.Leu336=) c.*194C= (n.*194C=) c.1027C= (p.Leu343=) | |
12 | g.56004395C>G | CA6621078 | SUOX | c.1006C>G (p.Leu336Val) c.*194C>G (n.*194C>G) c.1027C>G (p.Leu343Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004395C>T | CA480366255 | SUOX | c.1006C>T (p.Leu336=) c.*194C>T (n.*194C>T) c.1027C>T (p.Leu343=) | ClinVar dbSNP |
12 | g.56004396T>A | CA385290350 | SUOX | c.1007T>A (p.Leu336Gln) c.*195T>A (n.*195T>A) c.1028T>A (p.Leu343Gln) | |
12 | g.56004396T>C | CA385290342 | SUOX | c.1007T>C (p.Leu336Pro) c.*195T>C (n.*195T>C) c.1028T>C (p.Leu343Pro) | |
12 | g.56004396T>G | CA385290344 | SUOX | c.1007T>G (p.Leu336Arg) c.*195T>G (n.*195T>G) c.1028T>G (p.Leu343Arg) | |
12 | g.56004397G>A | CA480366258 | SUOX | c.1008G>A (p.Leu336=) c.*196G>A (n.*196G>A) c.1029G>A (p.Leu343=) | |
12 | g.56004397G>C | CA480366260 | SUOX | c.1008G>C (p.Leu336=) c.*196G>C (n.*196G>C) c.1029G>C (p.Leu343=) | |
12 | g.56004397G>T | CA480366259 | SUOX | c.1008G>T (p.Leu336=) c.*196G>T (n.*196G>T) c.1029G>T (p.Leu343=) | |
12 | g.56004398G>A | CA385290353 | SUOX | c.1009G>A (p.Ala337Thr) c.*197G>A (n.*197G>A) c.1030G>A (p.Ala344Thr) | |
12 | g.56004398G>C | CA385290356 | SUOX | c.1009G>C (p.Ala337Pro) c.*197G>C (n.*197G>C) c.1030G>C (p.Ala344Pro) | |
12 | g.56004398G>T | CA385290358 | SUOX | c.1009G>T (p.Ala337Ser) c.*197G>T (n.*197G>T) c.1030G>T (p.Ala344Ser) | |
12 | g.56004399C>A | CA385290361 | SUOX | c.1010C>A (p.Ala337Asp) c.*198C>A (n.*198C>A) c.1031C>A (p.Ala344Asp) | |
12 | g.56004399C>G | CA385290363 | SUOX | c.1010C>G (p.Ala337Gly) c.*198C>G (n.*198C>G) c.1031C>G (p.Ala344Gly) | |
12 | g.56004399C>T | CA385290365 | SUOX | c.1010C>T (p.Ala337Val) c.*198C>T (n.*198C>T) c.1031C>T (p.Ala344Val) | gnomAD v4 |
12 | g.56004400T>A | CA480366262 | SUOX | c.1011T>A (p.Ala337=) c.*199T>A (n.*199T>A) c.1032T>A (p.Ala344=) | |
12 | g.56004400T>C | CA480366264 | SUOX | c.1011T>C (p.Ala337=) c.*199T>C (n.*199T>C) c.1032T>C (p.Ala344=) | |
12 | g.56004400T>G | CA480366263 | SUOX | c.1011T>G (p.Ala337=) c.*199T>G (n.*199T>G) c.1032T>G (p.Ala344=) | |
12 | g.56004401C>A | CA480366265 | SUOX | c.1012C>A (p.Arg338=) c.*200C>A (n.*200C>A) c.1033C>A (p.Arg345=) | |
12 | g.56004401C= | CA2038197853 | SUOX | c.1012C= (p.Arg338=) c.*200C= (n.*200C=) c.1033C= (p.Arg345=) | |
12 | g.56004401C>G | CA385290369 | SUOX | c.1012C>G (p.Arg338Gly) c.*200C>G (n.*200C>G) c.1033C>G (p.Arg345Gly) | |
12 | g.56004401C>T | CA6621079 | SUOX | c.1012C>T (p.Arg338Trp) c.*200C>T (n.*200C>T) c.1033C>T (p.Arg345Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004402G>A | CA6621080 | SUOX | c.1013G>A (p.Arg338Gln) c.*201G>A (n.*201G>A) c.1034G>A (p.Arg345Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004402G>C | CA385290375 | SUOX | c.1013G>C (p.Arg338Pro) c.*201G>C (n.*201G>C) c.1034G>C (p.Arg345Pro) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004402G= | CA2038197854 | SUOX | c.1013G= (p.Arg338=) c.*201G= (n.*201G=) c.1034G= (p.Arg345=) | |
12 | g.56004402G>T | CA385290378 | SUOX | c.1013G>T (p.Arg338Leu) c.*201G>T (n.*201G>T) c.1034G>T (p.Arg345Leu) | |
12 | g.56004403G>A | CA480366266 | SUOX | c.1014G>A (p.Arg338=) c.*202G>A (n.*202G>A) c.1035G>A (p.Arg345=) | ClinVar gnomAD v4 |
12 | g.56004403G>C | CA480366267 | SUOX | c.1014G>C (p.Arg338=) c.*202G>C (n.*202G>C) c.1035G>C (p.Arg345=) | COSMIC |
12 | g.56004403G>T | CA480366268 | SUOX | c.1014G>T (p.Arg338=) c.*202G>T (n.*202G>T) c.1035G>T (p.Arg345=) | |
12 | g.56004404G>A | CA385290385 | SUOX | c.1015G>A (p.Ala339Thr) c.*203G>A (n.*203G>A) c.1036G>A (p.Ala346Thr) | gnomAD v4 |
12 | g.56004404G>C | CA385290387 | SUOX | c.1015G>C (p.Ala339Pro) c.*203G>C (n.*203G>C) c.1036G>C (p.Ala346Pro) | |
12 | g.56004404G>T | CA385290382 | SUOX | c.1015G>T (p.Ala339Ser) c.*203G>T (n.*203G>T) c.1036G>T (p.Ala346Ser) | |
12 | g.56004405C>A | CA385290392 | SUOX | c.1016C>A (p.Ala339Asp) c.*204C>A (n.*204C>A) c.1037C>A (p.Ala346Asp) | |
12 | g.56004405C= | CA2038197855 | SUOX | c.1016C= (p.Ala339=) c.*204C= (n.*204C=) c.1037C= (p.Ala346=) | |
12 | g.56004405C>G | CA385290394 | SUOX | c.1016C>G (p.Ala339Gly) c.*204C>G (n.*204C>G) c.1037C>G (p.Ala346Gly) | |
12 | g.56004405C>T | CA6621081 | SUOX | c.1016C>T (p.Ala339Val) c.*204C>T (n.*204C>T) c.1037C>T (p.Ala346Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004406C>A | CA480366272 | SUOX | c.1017C>A (p.Ala339=) c.*205C>A (n.*205C>A) c.1038C>A (p.Ala346=) | |
12 | g.56004406C>G | CA480366273 | SUOX | c.1017C>G (p.Ala339=) c.*205C>G (n.*205C>G) c.1038C>G (p.Ala346=) | |
12 | g.56004406C>T | CA480366274 | SUOX | c.1017C>T (p.Ala339=) c.*205C>T (n.*205C>T) c.1038C>T (p.Ala346=) | ClinVar |
12 | g.56004407A= | CA2038197856 | SUOX | c.1018A= (p.Met340=) c.*206A= (n.*206A=) c.1039A= (p.Met347=) | |
12 | g.56004407A>C | CA385290401 | SUOX | c.1018A>C (p.Met340Leu) c.*206A>C (n.*206A>C) c.1039A>C (p.Met347Leu) | |
12 | g.56004407A>G | CA6621082 | SUOX | c.1018A>G (p.Met340Val) c.*206A>G (n.*206A>G) c.1039A>G (p.Met347Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004407A>T | CA385290405 | SUOX | c.1018A>T (p.Met340Leu) c.*206A>T (n.*206A>T) c.1039A>T (p.Met347Leu) | ClinVar dbSNP |
12 | g.56004408T>A | CA385290408 | SUOX | c.1019T>A (p.Met340Lys) c.*207T>A (n.*207T>A) c.1040T>A (p.Met347Lys) | |
12 | g.56004408T>C | CA385290410 | SUOX | c.1019T>C (p.Met340Thr) c.*207T>C (n.*207T>C) c.1040T>C (p.Met347Thr) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004408T>G | CA385290412 | SUOX | c.1019T>G (p.Met340Arg) c.*207T>G (n.*207T>G) c.1040T>G (p.Met347Arg) | |
12 | g.56004408T= | CA2038197857 | SUOX | c.1019T= (p.Met340=) c.*207T= (n.*207T=) c.1040T= (p.Met347=) | |
12 | g.56004409G>A | CA385290414 | SUOX | c.1020G>A (p.Met340Ile) c.*208G>A (n.*208G>A) c.1041G>A (p.Met347Ile) | |
12 | g.56004409G>C | CA385290417 | SUOX | c.1020G>C (p.Met340Ile) c.*208G>C (n.*208G>C) c.1041G>C (p.Met347Ile) | |
12 | g.56004409G>T | CA385290419 | SUOX | c.1020G>T (p.Met340Ile) c.*208G>T (n.*208G>T) c.1041G>T (p.Met347Ile) | |
12 | g.56004410G>A | CA6621083 | SUOX | c.1021G>A (p.Asp341Asn) c.*209G>A (n.*209G>A) c.1042G>A (p.Asp348Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004410G>C | CA385290428 | SUOX | c.1021G>C (p.Asp341His) c.*209G>C (n.*209G>C) c.1042G>C (p.Asp348His) | |
12 | g.56004410G= | CA2038197858 | SUOX | c.1021G= (p.Asp341=) c.*209G= (n.*209G=) c.1042G= (p.Asp348=) | |
12 | g.56004410G>T | CA385290424 | SUOX | c.1021G>T (p.Asp341Tyr) c.*209G>T (n.*209G>T) c.1042G>T (p.Asp348Tyr) | |
12 | g.56004411A>C | CA385290432 | SUOX | c.1022A>C (p.Asp341Ala) c.*210A>C (n.*210A>C) c.1043A>C (p.Asp348Ala) | |
12 | g.56004411A>G | CA385290435 | SUOX | c.1022A>G (p.Asp341Gly) c.*210A>G (n.*210A>G) c.1043A>G (p.Asp348Gly) | |
12 | g.56004411A>T | CA385290437 | SUOX | c.1022A>T (p.Asp341Val) c.*210A>T (n.*210A>T) c.1043A>T (p.Asp348Val) | |
12 | g.56004412C>A | CA385290440 | SUOX | c.1023C>A (p.Asp341Glu) c.*211C>A (n.*211C>A) c.1044C>A (p.Asp348Glu) | |
12 | g.56004412C>G | CA385290442 | SUOX | c.1023C>G (p.Asp341Glu) c.*211C>G (n.*211C>G) c.1044C>G (p.Asp348Glu) | |
12 | g.56004412C>T | CA480366278 | SUOX | c.1023C>T (p.Asp341=) c.*211C>T (n.*211C>T) c.1044C>T (p.Asp348=) | |
12 | g.56004413C>A | CA385290452 | SUOX | c.1024C>A (p.Pro342Thr) c.*212C>A (n.*212C>A) c.1045C>A (p.Pro349Thr) | gnomAD v4 |
12 | g.56004413C>G | CA385290447 | SUOX | c.1024C>G (p.Pro342Ala) c.*212C>G (n.*212C>G) c.1045C>G (p.Pro349Ala) | gnomAD v4 |
12 | g.56004413C>T | CA385290450 | SUOX | c.1024C>T (p.Pro342Ser) c.*212C>T (n.*212C>T) c.1045C>T (p.Pro349Ser) | |
12 | g.56004414C>A | CA385290457 | SUOX | c.1025C>A (p.Pro342His) c.*213C>A (n.*213C>A) c.1046C>A (p.Pro349His) | |
12 | g.56004414C= | CA2038197859 | SUOX | c.1025C= (p.Pro342=) c.*213C= (n.*213C=) c.1046C= (p.Pro349=) | |
12 | g.56004414C>G | CA385290459 | SUOX | c.1025C>G (p.Pro342Arg) c.*213C>G (n.*213C>G) c.1046C>G (p.Pro349Arg) | |
12 | g.56004414C>T | CA385290462 | SUOX | c.1025C>T (p.Pro342Leu) c.*213C>T (n.*213C>T) c.1046C>T (p.Pro349Leu) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004415T>A | CA480366282 | SUOX | c.1026T>A (p.Pro342=) c.*214T>A (n.*214T>A) c.1047T>A (p.Pro349=) | |
12 | g.56004415T>C | CA480366283 | SUOX | c.1026T>C (p.Pro342=) c.*214T>C (n.*214T>C) c.1047T>C (p.Pro349=) | gnomAD v4 |
12 | g.56004415T>G | CA480366284 | SUOX | c.1026T>G (p.Pro342=) c.*214T>G (n.*214T>G) c.1047T>G (p.Pro349=) | |
12 | g.56004416G>A | CA385290466 | SUOX | c.1027G>A (p.Glu343Lys) c.*215G>A (n.*215G>A) c.1048G>A (p.Glu350Lys) | |
12 | g.56004416G>C | CA385290468 | SUOX | c.1027G>C (p.Glu343Gln) c.*215G>C (n.*215G>C) c.1048G>C (p.Glu350Gln) | |
12 | g.56004416G>T | CA385290471 | SUOX | c.1027G>T (p.Glu343Ter) c.*215G>T (n.*215G>T) c.1048G>T (p.Glu350Ter) | |
12 | g.56004417A>C | CA385290478 | SUOX | c.1028A>C (p.Glu343Ala) c.*216A>C (n.*216A>C) c.1049A>C (p.Glu350Ala) | |
12 | g.56004417A>G | CA385290481 | SUOX | c.1028A>G (p.Glu343Gly) c.*216A>G (n.*216A>G) c.1049A>G (p.Glu350Gly) | |
12 | g.56004417A>T | CA385290475 | SUOX | c.1028A>T (p.Glu343Val) c.*216A>T (n.*216A>T) c.1049A>T (p.Glu350Val) | |
12 | g.56004418A>C | CA385290484 | SUOX | c.1029A>C (p.Glu343Asp) c.*217A>C (n.*217A>C) c.1050A>C (p.Glu350Asp) | |
12 | g.56004418A>G | CA480366286 | SUOX | c.1029A>G (p.Glu343=) c.*217A>G (n.*217A>G) c.1050A>G (p.Glu350=) | |
12 | g.56004418A>T | CA385290487 | SUOX | c.1029A>T (p.Glu343Asp) c.*217A>T (n.*217A>T) c.1050A>T (p.Glu350Asp) | |
12 | g.56004419G>A | CA385290492 | SUOX | c.1030G>A (p.Ala344Thr) c.*218G>A (n.*218G>A) c.1051G>A (p.Ala351Thr) | dbSNP |
12 | g.56004419G>C | CA385290495 | SUOX | c.1030G>C (p.Ala344Pro) c.*218G>C (n.*218G>C) c.1051G>C (p.Ala351Pro) | |
12 | g.56004419G= | CA2038197860 | SUOX | c.1030G= (p.Ala344=) c.*218G= (n.*218G=) c.1051G= (p.Ala351=) | |
12 | g.56004419G>T | CA385290498 | SUOX | c.1030G>T (p.Ala344Ser) c.*218G>T (n.*218G>T) c.1051G>T (p.Ala351Ser) | |
12 | g.56004420C>A | CA385290500 | SUOX | c.1031C>A (p.Ala344Asp) c.*219C>A (n.*219C>A) c.1052C>A (p.Ala351Asp) | |
12 | g.56004420C= | CA2038197861 | SUOX | c.1031C= (p.Ala344=) c.*219C= (n.*219C=) c.1052C= (p.Ala351=) | |
12 | g.56004420C>G | CA385290501 | SUOX | c.1031C>G (p.Ala344Gly) c.*219C>G (n.*219C>G) c.1052C>G (p.Ala351Gly) | |
12 | g.56004420C>T | CA385290504 | SUOX | c.1031C>T (p.Ala344Val) c.*219C>T (n.*219C>T) c.1052C>T (p.Ala351Val) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004421T>A | CA480366287 | SUOX | c.1032T>A (p.Ala344=) c.*220T>A (n.*220T>A) c.1053T>A (p.Ala351=) | |
12 | g.56004421T>C | CA480366288 | SUOX | c.1032T>C (p.Ala344=) c.*220T>C (n.*220T>C) c.1053T>C (p.Ala351=) | ClinVar |
12 | g.56004421T>G | CA480366289 | SUOX | c.1032T>G (p.Ala344=) c.*220T>G (n.*220T>G) c.1053T>G (p.Ala351=) | ClinVar dbSNP |
12 | g.56004422G>A | CA385290506 | SUOX | c.1033G>A (p.Glu345Lys) c.*221G>A (n.*221G>A) c.1054G>A (p.Glu352Lys) | |
12 | g.56004422G>C | CA237605249 | SUOX | c.1033G>C (p.Glu345Gln) c.*221G>C (n.*221G>C) c.1054G>C (p.Glu352Gln) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.56004422G= | CA2038197862 | SUOX | c.1033G= (p.Glu345=) c.*221G= (n.*221G=) c.1054G= (p.Glu352=) | |
12 | g.56004422G>T | CA385290509 | SUOX | c.1033G>T (p.Glu345Ter) c.*221G>T (n.*221G>T) c.1054G>T (p.Glu352Ter) | |
12 | g.56004423A>C | CA385290511 | SUOX | c.1034A>C (p.Glu345Ala) c.*222A>C (n.*222A>C) c.1055A>C (p.Glu352Ala) | |
12 | g.56004423A>G | CA385290512 | SUOX | c.1034A>G (p.Glu345Gly) c.*222A>G (n.*222A>G) c.1055A>G (p.Glu352Gly) | |
12 | g.56004423A>T | CA385290514 | SUOX | c.1034A>T (p.Glu345Val) c.*222A>T (n.*222A>T) c.1055A>T (p.Glu352Val) | |
12 | g.56004424G>A | CA6621084 | SUOX | c.1035G>A (p.Glu345=) c.*223G>A (n.*223G>A) c.1056G>A (p.Glu352=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004424G>C | CA385290521 | SUOX | c.1035G>C (p.Glu345Asp) c.*223G>C (n.*223G>C) c.1056G>C (p.Glu352Asp) | |
12 | g.56004424G= | CA2038197863 | SUOX | c.1035G= (p.Glu345=) c.*223G= (n.*223G=) c.1056G= (p.Glu352=) | |
12 | g.56004424G>T | CA385290516 | SUOX | c.1035G>T (p.Glu345Asp) c.*223G>T (n.*223G>T) c.1056G>T (p.Glu352Asp) | |
12 | g.56004425G>A | CA385290523 | SUOX | c.1036G>A (p.Val346Ile) c.*224G>A (n.*224G>A) c.1057G>A (p.Val353Ile) | |
12 | g.56004425G>C | CA385290524 | SUOX | c.1036G>C (p.Val346Leu) c.*224G>C (n.*224G>C) c.1057G>C (p.Val353Leu) | |
12 | g.56004425G>T | CA385290529 | SUOX | c.1036G>T (p.Val346Phe) c.*224G>T (n.*224G>T) c.1057G>T (p.Val353Phe) | |
12 | g.56004426T>A | CA385290532 | SUOX | c.1037T>A (p.Val346Asp) c.*225T>A (n.*225T>A) c.1058T>A (p.Val353Asp) | |
12 | g.56004426T>C | CA385290535 | SUOX | c.1037T>C (p.Val346Ala) c.*225T>C (n.*225T>C) c.1058T>C (p.Val353Ala) | |
12 | g.56004426T>G | CA385290536 | SUOX | c.1037T>G (p.Val346Gly) c.*225T>G (n.*225T>G) c.1058T>G (p.Val353Gly) | |
12 | g.56004427C>A | CA480366290 | SUOX | c.1038C>A (p.Val346=) c.*226C>A (n.*226C>A) c.1059C>A (p.Val353=) | |
12 | g.56004427C>G | CA480366291 | SUOX | c.1038C>G (p.Val346=) c.*226C>G (n.*226C>G) c.1059C>G (p.Val353=) | |
12 | g.56004427C>T | CA480366292 | SUOX | c.1038C>T (p.Val346=) c.*226C>T (n.*226C>T) c.1059C>T (p.Val353=) | ClinVar dbSNP |
12 | g.56004428C>A | CA385290539 | SUOX | c.1039C>A (p.Leu347Met) c.*227C>A (n.*227C>A) c.1060C>A (p.Leu354Met) | |
12 | g.56004428C>G | CA385290541 | SUOX | c.1039C>G (p.Leu347Val) c.*227C>G (n.*227C>G) c.1060C>G (p.Leu354Val) | |
12 | g.56004428C>T | CA480366293 | SUOX | c.1039C>T (p.Leu347=) c.*227C>T (n.*227C>T) c.1060C>T (p.Leu354=) | |
12 | g.56004429T>A | CA385290543 | SUOX | c.1040T>A (p.Leu347Gln) c.*228T>A (n.*228T>A) c.1061T>A (p.Leu354Gln) | |
12 | g.56004429T>C | CA385290545 | SUOX | c.1040T>C (p.Leu347Pro) c.*228T>C (n.*228T>C) c.1061T>C (p.Leu354Pro) | ClinVar dbSNP |
12 | g.56004429T>G | CA385290548 | SUOX | c.1040T>G (p.Leu347Arg) c.*228T>G (n.*228T>G) c.1061T>G (p.Leu354Arg) | |
12 | g.56004429T= | CA2038197864 | SUOX | c.1040T= (p.Leu347=) c.*228T= (n.*228T=) c.1061T= (p.Leu354=) | |
12 | g.56004430G>A | CA480366296 | SUOX | c.1041G>A (p.Leu347=) c.*229G>A (n.*229G>A) c.1062G>A (p.Leu354=) | |
12 | g.56004430G>C | CA480366299 | SUOX | c.1041G>C (p.Leu347=) c.*229G>C (n.*229G>C) c.1062G>C (p.Leu354=) | |
12 | g.56004430G>T | CA480366298 | SUOX | c.1041G>T (p.Leu347=) c.*229G>T (n.*229G>T) c.1062G>T (p.Leu354=) | |
12 | g.56004431C>A | CA385290550 | SUOX | c.1042C>A (p.Leu348Met) c.*230C>A (n.*230C>A) c.1063C>A (p.Leu355Met) | |
12 | g.56004431C>G | CA385290553 | SUOX | c.1042C>G (p.Leu348Val) c.*230C>G (n.*230C>G) c.1063C>G (p.Leu355Val) | |
12 | g.56004431C>T | CA480366300 | SUOX | c.1042C>T (p.Leu348=) c.*230C>T (n.*230C>T) c.1063C>T (p.Leu355=) | |
12 | g.56004432T>A | CA385290563 | SUOX | c.1043T>A (p.Leu348Gln) c.*231T>A (n.*231T>A) c.1064T>A (p.Leu355Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004432T>C | CA385290566 | SUOX | c.1043T>C (p.Leu348Pro) c.*231T>C (n.*231T>C) c.1064T>C (p.Leu355Pro) | gnomAD v4 |
12 | g.56004432T>G | CA385290557 | SUOX | c.1043T>G (p.Leu348Arg) c.*231T>G (n.*231T>G) c.1064T>G (p.Leu355Arg) | |
12 | g.56004432T= | CA2038197865 | SUOX | c.1043T= (p.Leu348=) c.*231T= (n.*231T=) c.1064T= (p.Leu355=) | |
12 | g.56004433G>A | CA480366304 | SUOX | c.1044G>A (p.Leu348=) c.*232G>A (n.*232G>A) c.1065G>A (p.Leu355=) | ClinVar dbSNP |
12 | g.56004433G>C | CA480366305 | SUOX | c.1044G>C (p.Leu348=) c.*232G>C (n.*232G>C) c.1065G>C (p.Leu355=) | |
12 | g.56004433G>T | CA480366306 | SUOX | c.1044G>T (p.Leu348=) c.*232G>T (n.*232G>T) c.1065G>T (p.Leu355=) | gnomAD v4 |
12 | g.56004434G>A | CA385290570 | SUOX | c.1045G>A (p.Ala349Thr) c.*233G>A (n.*233G>A) c.1066G>A (p.Ala356Thr) | gnomAD v4 |
12 | g.56004434G>C | CA385290571 | SUOX | c.1045G>C (p.Ala349Pro) c.*233G>C (n.*233G>C) c.1066G>C (p.Ala356Pro) | |
12 | g.56004434G>T | CA385290574 | SUOX | c.1045G>T (p.Ala349Ser) c.*233G>T (n.*233G>T) c.1066G>T (p.Ala356Ser) | |
12 | g.56004435C>A | CA385290579 | SUOX | c.1046C>A (p.Ala349Glu) c.*234C>A (n.*234C>A) c.1067C>A (p.Ala356Glu) | |
12 | g.56004435C>G | CA385290582 | SUOX | c.1046C>G (p.Ala349Gly) c.*234C>G (n.*234C>G) c.1067C>G (p.Ala356Gly) | |
12 | g.56004435C>T | CA385290584 | SUOX | c.1046C>T (p.Ala349Val) c.*234C>T (n.*234C>T) c.1067C>T (p.Ala356Val) | |
12 | g.56004435_56004437delinsCAT | CA2038197866 | SUOX | c.1046_1048delinsCAT (p.Ala349=) c.*234_*236delinsCAT (n.*234_*236delinsCAT) c.1067_1069delinsCAT (p.Ala356=) | |
12 | g.56004436A= | CA2038197867 | SUOX | c.1047A= (p.Ala349=) c.*235A= (n.*235A=) c.1068A= (p.Ala356=) | |
12 | g.56004436A>C | CA480366310 | SUOX | c.1047A>C (p.Ala349=) c.*235A>C (n.*235A>C) c.1068A>C (p.Ala356=) | |
12 | g.56004436A>G | CA480366311 | SUOX | c.1047A>G (p.Ala349=) c.*235A>G (n.*235A>G) c.1068A>G (p.Ala356=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004436A>T | CA480366312 | SUOX | c.1047A>T (p.Ala349=) c.*235A>T (n.*235A>T) c.1068A>T (p.Ala356=) | |
12 | g.56004438_56004439del | CA605401135 | SUOX | c.1049_1050del (p.Tyr350Ter) c.*237_*238del (n.*237_*238del) c.1070_1071del (p.Tyr357Ter) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004437T>A | CA385290590 | SUOX | c.1048T>A (p.Tyr350Asn) c.*236T>A (n.*236T>A) c.1069T>A (p.Tyr357Asn) | |
12 | g.56004437T>C | CA6621085 | SUOX | c.1048T>C (p.Tyr350His) c.*236T>C (n.*236T>C) c.1069T>C (p.Tyr357His) | dbSNP ExAC gnomAD v4 |
12 | g.56004437T>G | CA385290592 | SUOX | c.1048T>G (p.Tyr350Asp) c.*236T>G (n.*236T>G) c.1069T>G (p.Tyr357Asp) | |
12 | g.56004437T= | CA2038197868 | SUOX | c.1048T= (p.Tyr350=) c.*236T= (n.*236T=) c.1069T= (p.Tyr357=) | |
12 | g.56004438A= | CA2038197869 | SUOX | c.1049A= (p.Tyr350=) c.*237A= (n.*237A=) c.1070A= (p.Tyr357=) | |
12 | g.56004438A>C | CA385290597 | SUOX | c.1049A>C (p.Tyr350Ser) c.*237A>C (n.*237A>C) c.1070A>C (p.Tyr357Ser) | |
12 | g.56004438A>G | CA385290600 | SUOX | c.1049A>G (p.Tyr350Cys) c.*237A>G (n.*237A>G) c.1070A>G (p.Tyr357Cys) | gnomAD v4 |
12 | g.56004438A>T | CA6621086 | SUOX | c.1049A>T (p.Tyr350Phe) c.*237A>T (n.*237A>T) c.1070A>T (p.Tyr357Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004438_56004441del | CA2575186108 | SUOX | c.1049_1052del (p.Tyr350Ter) c.*237_*240del (n.*237_*240del) c.1070_1073del (p.Tyr357Ter) | ClinVar gnomAD v4 |
12 | g.56004439T>A | CA385290616 | SUOX | c.1050T>A (p.Tyr350Ter) c.*238T>A (n.*238T>A) c.1071T>A (p.Tyr357Ter) | |
12 | g.56004439T>C | CA6621087 | SUOX | c.1050T>C (p.Tyr350=) c.*238T>C (n.*238T>C) c.1071T>C (p.Tyr357=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004439T>G | CA385290612 | SUOX | c.1050T>G (p.Tyr350Ter) c.*238T>G (n.*238T>G) c.1071T>G (p.Tyr357Ter) | gnomAD v4 |
12 | g.56004439T= | CA2038197870 | SUOX | c.1050T= (p.Tyr350=) c.*238T= (n.*238T=) c.1071T= (p.Tyr357=) | |
12 | g.56004440G>A | CA385290621 | SUOX | c.1051G>A (p.Glu351Lys) c.*239G>A (n.*239G>A) c.1072G>A (p.Glu358Lys) | gnomAD v4 |
12 | g.56004440G>C | CA385290625 | SUOX | c.1051G>C (p.Glu351Gln) c.*239G>C (n.*239G>C) c.1072G>C (p.Glu358Gln) | |
12 | g.56004440G>T | CA385290629 | SUOX | c.1051G>T (p.Glu351Ter) c.*239G>T (n.*239G>T) c.1072G>T (p.Glu358Ter) | |
12 | g.56004441A>C | CA385290636 | SUOX | c.1052A>C (p.Glu351Ala) c.*240A>C (n.*240A>C) c.1073A>C (p.Glu358Ala) | |
12 | g.56004441A>G | CA385290638 | SUOX | c.1052A>G (p.Glu351Gly) c.*240A>G (n.*240A>G) c.1073A>G (p.Glu358Gly) | |
12 | g.56004441A>T | CA385290641 | SUOX | c.1052A>T (p.Glu351Val) c.*240A>T (n.*240A>T) c.1073A>T (p.Glu358Val) | |
12 | g.56004442G>A | CA480366320 | SUOX | c.1053G>A (p.Glu351=) c.*241G>A (n.*241G>A) c.1074G>A (p.Glu358=) | gnomAD v4 |
12 | g.56004442G>C | CA385290645 | SUOX | c.1053G>C (p.Glu351Asp) c.*241G>C (n.*241G>C) c.1074G>C (p.Glu358Asp) | |
12 | g.56004442G= | CA2038197871 | SUOX | c.1053G= (p.Glu351=) c.*241G= (n.*241G=) c.1074G= (p.Glu358=) | |
12 | g.56004442G>T | CA385290649 | SUOX | c.1053G>T (p.Glu351Asp) c.*241G>T (n.*241G>T) c.1074G>T (p.Glu358Asp) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.56004443A>C | CA385290654 | SUOX | c.1054A>C (p.Met352Leu) c.*242A>C (n.*242A>C) c.1075A>C (p.Met359Leu) | |
12 | g.56004443A>G | CA385290658 | SUOX | c.1054A>G (p.Met352Val) c.*242A>G (n.*242A>G) c.1075A>G (p.Met359Val) | |
12 | g.56004443A>T | CA385290660 | SUOX | c.1054A>T (p.Met352Leu) c.*242A>T (n.*242A>T) c.1075A>T (p.Met359Leu) | |
12 | g.56004444T>A | CA385290670 | SUOX | c.1055T>A (p.Met352Lys) c.*243T>A (n.*243T>A) c.1076T>A (p.Met359Lys) | |
12 | g.56004444T>C | CA385290674 | SUOX | c.1055T>C (p.Met352Thr) c.*243T>C (n.*243T>C) c.1076T>C (p.Met359Thr) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004444T>G | CA385290666 | SUOX | c.1055T>G (p.Met352Arg) c.*243T>G (n.*243T>G) c.1076T>G (p.Met359Arg) | |
12 | g.56004444T= | CA2038197872 | SUOX | c.1055T= (p.Met352=) c.*243T= (n.*243T=) c.1076T= (p.Met359=) | |
12 | g.56004445G>A | CA6621089 | SUOX | c.1056G>A (p.Met352Ile) c.*244G>A (n.*244G>A) c.1077G>A (p.Met359Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004445G>C | CA6621088 | SUOX | c.1056G>C (p.Met352Ile) c.*244G>C (n.*244G>C) c.1077G>C (p.Met359Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004445G= | CA2038197873 | SUOX | c.1056G= (p.Met352=) c.*244G= (n.*244G=) c.1077G= (p.Met359=) | |
12 | g.56004445G>T | CA385290685 | SUOX | c.1056G>T (p.Met352Ile) c.*244G>T (n.*244G>T) c.1077G>T (p.Met359Ile) | |
12 | g.56004446A>C | CA385290692 | SUOX | c.1057A>C (p.Asn353His) c.*245A>C (n.*245A>C) c.1078A>C (p.Asn360His) | |
12 | g.56004446A>G | CA385290696 | SUOX | c.1057A>G (p.Asn353Asp) c.*245A>G (n.*245A>G) c.1078A>G (p.Asn360Asp) | |
12 | g.56004446A>T | CA385290699 | SUOX | c.1057A>T (p.Asn353Tyr) c.*245A>T (n.*245A>T) c.1078A>T (p.Asn360Tyr) | |
12 | g.56004447A= | CA2038197874 | SUOX | c.1058A= (p.Asn353=) c.*246A= (n.*246A=) c.1079A= (p.Asn360=) | |
12 | g.56004447A>C | CA385290704 | SUOX | c.1058A>C (p.Asn353Thr) c.*246A>C (n.*246A>C) c.1079A>C (p.Asn360Thr) | |
12 | g.56004447A>G | CA6621090 | SUOX | c.1058A>G (p.Asn353Ser) c.*246A>G (n.*246A>G) c.1079A>G (p.Asn360Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004447A>T | CA385290709 | SUOX | c.1058A>T (p.Asn353Ile) c.*246A>T (n.*246A>T) c.1079A>T (p.Asn360Ile) |