Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.56004187_56004192delinsCAACCG | CA2038197764 | SUOX | c.798_803delinsCAACCG (p.Gly266=) c.301_306delinsCAACCG (p.Gln101=) c.819_824delinsCAACCG (p.Gly273=) | |
12 | g.56004189_56004193del | CA6621047 | SUOX | c.800_804del (p.Asn267ThrfsTer3) c.303_307del (p.Gln101HisfsTer5) c.821_825del (p.Asn274ThrfsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.56004192G>A | CA237605213 | SUOX | c.803G>A (p.Arg268Gln) c.306G>A (p.Pro102=) c.824G>A (p.Arg275Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004192G>C | CA385287960 | SUOX | c.803G>C (p.Arg268Pro) c.306G>C (p.Pro102=) c.824G>C (p.Arg275Pro) | |
12 | g.56004192G= | CA2038197767 | SUOX | c.803G= (p.Arg268=) c.306G= (p.Pro102=) c.824G= (p.Arg275=) | |
12 | g.56004192G>T | CA385287966 | SUOX | c.803G>T (p.Arg268Leu) c.306G>T (p.Pro102=) c.824G>T (p.Arg275Leu) | |
12 | g.56004193A>C | CA385287970 | SUOX | c.804A>C (p.Arg268=) c.307A>C (p.Thr103Pro) c.825A>C (p.Arg275=) | |
12 | g.56004193A>G | CA385287976 | SUOX | c.804A>G (p.Arg268=) c.307A>G (p.Thr103Ala) c.825A>G (p.Arg275=) | |
12 | g.56004193A>T | CA385287989 | SUOX | c.804A>T (p.Arg268=) c.307A>T (p.Thr103Ser) c.825A>T (p.Arg275=) | |
12 | g.56004194C>A | CA385287996 | SUOX | c.805C>A (p.Arg269Ser) c.308C>A (p.Thr103Lys) c.826C>A (p.Arg276Ser) | |
12 | g.56004194C= | CA2038197768 | SUOX | c.805C= (p.Arg269=) c.308C= (p.Thr103=) c.826C= (p.Arg276=) | |
12 | g.56004194C>G | CA385288003 | SUOX | c.805C>G (p.Arg269Gly) c.308C>G (p.Thr103Arg) c.826C>G (p.Arg276Gly) | |
12 | g.56004194C>T | CA6621048 | SUOX | c.805C>T (p.Arg269Cys) c.308C>T (p.Thr103Met) c.826C>T (p.Arg276Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004195G>A | CA237605215 | SUOX | c.806G>A (p.Arg269His) c.309G>A (p.Thr103=) c.827G>A (p.Arg276His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.56004195G>C | CA385288016 | SUOX | c.806G>C (p.Arg269Pro) c.309G>C (p.Thr103=) c.827G>C (p.Arg276Pro) | ClinVar |
12 | g.56004195G= | CA2038197769 | SUOX | c.806G= (p.Arg269=) c.309G= (p.Thr103=) c.827G= (p.Arg276=) | |
12 | g.56004195G>T | CA385288021 | SUOX | c.806G>T (p.Arg269Leu) c.309G>T (p.Thr103=) c.827G>T (p.Arg276Leu) | |
12 | g.56004195_56004197delinsGCT | CA2038197770 | SUOX | c.806_808delinsGCT (p.Arg269=) c.309_311delinsGCT (p.Thr103=) c.827_829delinsGCT (p.Arg276=) | |
12 | g.56004196C>A | CA385288031 | SUOX | c.807C>A (p.Arg269=) c.310C>A (p.Leu104Ile) c.828C>A (p.Arg276=) | |
12 | g.56004196C>G | CA385288035 | SUOX | c.807C>G (p.Arg269=) c.310C>G (p.Leu104Val) c.828C>G (p.Arg276=) | |
12 | g.56004196C>T | CA385288033 | SUOX | c.807C>T (p.Arg269=) c.310C>T (p.Leu104Phe) c.828C>T (p.Arg276=) | |
12 | g.56004198_56004199del | CA605401059 | SUOX | c.809_810del (p.Ser270Ter) c.312_313del (p.Ter105ArgextTer2) c.830_831del (p.Ser277Ter) | dbSNP gnomAD v2 |
12 | g.56004197T>A | CA385288040 | SUOX | c.808T>A (p.Ser270Thr) c.311T>A (p.Leu104His) c.829T>A (p.Ser277Thr) | |
12 | g.56004197T>C | CA385288046 | SUOX | c.808T>C (p.Ser270Pro) c.311T>C (p.Leu104Pro) c.829T>C (p.Ser277Pro) | |
12 | g.56004197T>G | CA385288043 | SUOX | c.808T>G (p.Ser270Ala) c.311T>G (p.Leu104Arg) c.829T>G (p.Ser277Ala) | |
12 | g.56004198C>A | CA385288055 | SUOX | c.809C>A (p.Ser270Tyr) c.312C>A (p.Leu104=) c.830C>A (p.Ser277Tyr) | |
12 | g.56004198C= | CA2038197771 | SUOX | c.809C= (p.Ser270=) c.312C= (p.Leu104=) c.830C= (p.Ser277=) | |
12 | g.56004198C>G | CA385288070 | SUOX | c.809C>G (p.Ser270Cys) c.312C>G (p.Leu104=) c.830C>G (p.Ser277Cys) | |
12 | g.56004198C>T | CA385288073 | SUOX | c.809C>T (p.Ser270Phe) c.312C>T (p.Leu104=) c.830C>T (p.Ser277Phe) | |
12 | g.56004199T>A | CA385288075 | SUOX | c.810T>A (p.Ser270=) c.313T>A (p.Ter105Arg) c.831T>A (p.Ser277=) | |
12 | g.56004199T>C | CA385288079 | SUOX | c.810T>C (p.Ser270=) c.313T>C (p.Ter105Arg) c.831T>C (p.Ser277=) | |
12 | g.56004199T>G | CA385288086 | SUOX | c.810T>G (p.Ser270=) c.313T>G (p.Ter105Gly) c.831T>G (p.Ser277=) | |
12 | g.56004199dup | CA1139662732 | SUOX | c.810dup (p.Glu271Ter) c.313dup (p.Ter105LeuextTer3) c.831dup (p.Glu278Ter) | ClinVar dbSNP |
12 | g.56004200G>A | CA385288091 | SUOX | c.811G>A (p.Glu271Lys) c.314G>A (p.Ter105=) c.832G>A (p.Glu278Lys) | |
12 | g.56004200G>C | CA385288094 | SUOX | c.811G>C (p.Glu271Gln) c.314G>C (p.Ter105Ser) c.832G>C (p.Glu278Gln) | |
12 | g.56004200G>T | CA385288099 | SUOX | c.811G>T (p.Glu271Ter) c.314G>T (p.Ter105Leu) c.832G>T (p.Glu278Ter) | |
12 | g.56004201A= | CA2038197772 | SUOX | c.812A= (p.Glu271=) c.315A= (p.Ter105=) c.833A= (p.Glu278=) | |
12 | g.56004201A>C | CA385288106 | SUOX | c.812A>C (p.Glu271Ala) c.315A>C (p.Ter105Cys) c.833A>C (p.Glu278Ala) | |
12 | g.56004201A>G | CA385288105 | SUOX | c.812A>G (p.Glu271Gly) c.315A>G (p.Ter105Trp) c.833A>G (p.Glu278Gly) | dbSNP gnomAD v4 |
12 | g.56004201A>T | CA385288104 | SUOX | c.812A>T (p.Glu271Val) c.315A>T (p.Ter105Cys) c.833A>T (p.Glu278Val) | |
12 | g.56004202G>A | CA480366157 | SUOX | c.813G>A (p.Glu271=) c.*1G>A (n.*1G>A) c.834G>A (p.Glu278=) | gnomAD v4 |
12 | g.56004202G>C | CA385288110 | SUOX | c.813G>C (p.Glu271Asp) c.*1G>C (n.*1G>C) c.834G>C (p.Glu278Asp) | |
12 | g.56004202G>T | CA385288116 | SUOX | c.813G>T (p.Glu271Asp) c.*1G>T (n.*1G>T) c.834G>T (p.Glu278Asp) | |
12 | g.56004203A>C | CA385288132 | SUOX | c.814A>C (p.Met272Leu) c.*2A>C (n.*2A>C) c.835A>C (p.Met279Leu) | |
12 | g.56004203A>G | CA385288136 | SUOX | c.814A>G (p.Met272Val) c.*2A>G (n.*2A>G) c.835A>G (p.Met279Val) | |
12 | g.56004203A>T | CA385288140 | SUOX | c.814A>T (p.Met272Leu) c.*2A>T (n.*2A>T) c.835A>T (p.Met279Leu) | |
12 | g.56004204T>A | CA385288155 | SUOX | c.815T>A (p.Met272Lys) c.*3T>A (n.*3T>A) c.836T>A (p.Met279Lys) | |
12 | g.56004204T>C | CA6621049 | SUOX | c.815T>C (p.Met272Thr) c.*3T>C (n.*3T>C) c.836T>C (p.Met279Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004204T>G | CA385288161 | SUOX | c.815T>G (p.Met272Arg) c.*3T>G (n.*3T>G) c.836T>G (p.Met279Arg) | |
12 | g.56004204T= | CA2038197773 | SUOX | c.815T= (p.Met272=) c.*3T= (n.*3T=) c.836T= (p.Met279=) | |
12 | g.56004205G>A | CA385288164 | SUOX | c.816G>A (p.Met272Ile) c.*4G>A (n.*4G>A) c.837G>A (p.Met279Ile) | |
12 | g.56004205G>C | CA385288165 | SUOX | c.816G>C (p.Met272Ile) c.*4G>C (n.*4G>C) c.837G>C (p.Met279Ile) | gnomAD v4 |
12 | g.56004205G>T | CA385288166 | SUOX | c.816G>T (p.Met272Ile) c.*4G>T (n.*4G>T) c.837G>T (p.Met279Ile) | COSMIC |
12 | g.56004206A>C | CA385288175 | SUOX | c.817A>C (p.Thr273Pro) c.*5A>C (n.*5A>C) c.838A>C (p.Thr280Pro) | |
12 | g.56004206A>G | CA385288177 | SUOX | c.817A>G (p.Thr273Ala) c.*5A>G (n.*5A>G) c.838A>G (p.Thr280Ala) | |
12 | g.56004206A>T | CA385288169 | SUOX | c.817A>T (p.Thr273Ser) c.*5A>T (n.*5A>T) c.838A>T (p.Thr280Ser) | |
12 | g.56004207C>A | CA385288181 | SUOX | c.818C>A (p.Thr273Asn) c.*6C>A (n.*6C>A) c.839C>A (p.Thr280Asn) | |
12 | g.56004207C>G | CA385288182 | SUOX | c.818C>G (p.Thr273Ser) c.*6C>G (n.*6C>G) c.839C>G (p.Thr280Ser) | gnomAD v4 |
12 | g.56004207C>T | CA385288183 | SUOX | c.818C>T (p.Thr273Ile) c.*6C>T (n.*6C>T) c.839C>T (p.Thr280Ile) | |
12 | g.56004208T>A | CA480366303 | SUOX | c.819T>A (p.Thr273=) c.*7T>A (n.*7T>A) c.840T>A (p.Thr280=) | |
12 | g.56004208T>C | CA480366302 | SUOX | c.819T>C (p.Thr273=) c.*7T>C (n.*7T>C) c.840T>C (p.Thr280=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.56004208T>G | CA480366301 | SUOX | c.819T>G (p.Thr273=) c.*7T>G (n.*7T>G) c.840T>G (p.Thr280=) | |
12 | g.56004209C>A | CA385288185 | SUOX | c.820C>A (p.Gln274Lys) c.*8C>A (n.*8C>A) c.841C>A (p.Gln281Lys) | |
12 | g.56004209C>G | CA385288189 | SUOX | c.820C>G (p.Gln274Glu) c.*8C>G (n.*8C>G) c.841C>G (p.Gln281Glu) | |
12 | g.56004209C>T | CA385288192 | SUOX | c.820C>T (p.Gln274Ter) c.*8C>T (n.*8C>T) c.841C>T (p.Gln281Ter) | |
12 | g.56004210A= | CA2038197774 | SUOX | c.821A= (p.Gln274=) c.*9A= (n.*9A=) c.842A= (p.Gln281=) | |
12 | g.56004210A>C | CA385288197 | SUOX | c.821A>C (p.Gln274Pro) c.*9A>C (n.*9A>C) c.842A>C (p.Gln281Pro) | dbSNP |
12 | g.56004210A>G | CA6621050 | SUOX | c.821A>G (p.Gln274Arg) c.*9A>G (n.*9A>G) c.842A>G (p.Gln281Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004210A>T | CA385288199 | SUOX | c.821A>T (p.Gln274Leu) c.*9A>T (n.*9A>T) c.842A>T (p.Gln281Leu) | |
12 | g.56004211G>A | CA480366309 | SUOX | c.822G>A (p.Gln274=) c.*10G>A (n.*10G>A) c.843G>A (p.Gln281=) | |
12 | g.56004211G>C | CA6621051 | SUOX | c.822G>C (p.Gln274His) c.*10G>C (n.*10G>C) c.843G>C (p.Gln281His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004211G= | CA2038197775 | SUOX | c.822G= (p.Gln274=) c.*10G= (n.*10G=) c.843G= (p.Gln281=) | |
12 | g.56004211G>T | CA385288203 | SUOX | c.822G>T (p.Gln274His) c.*10G>T (n.*10G>T) c.843G>T (p.Gln281His) | |
12 | g.56004212G>A | CA385288210 | SUOX | c.823G>A (p.Val275Ile) c.*11G>A (n.*11G>A) c.844G>A (p.Val282Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.56004212G>C | CA385288211 | SUOX | c.823G>C (p.Val275Leu) c.*11G>C (n.*11G>C) c.844G>C (p.Val282Leu) | |
12 | g.56004212G= | CA2038197776 | SUOX | c.823G= (p.Val275=) c.*11G= (n.*11G=) c.844G= (p.Val282=) | |
12 | g.56004212G>T | CA385288207 | SUOX | c.823G>T (p.Val275Phe) c.*11G>T (n.*11G>T) c.844G>T (p.Val282Phe) | |
12 | g.56004213T>A | CA385288212 | SUOX | c.824T>A (p.Val275Asp) c.*12T>A (n.*12T>A) c.845T>A (p.Val282Asp) | |
12 | g.56004213T>C | CA385288213 | SUOX | c.824T>C (p.Val275Ala) c.*12T>C (n.*12T>C) c.845T>C (p.Val282Ala) | |
12 | g.56004213T>G | CA385288215 | SUOX | c.824T>G (p.Val275Gly) c.*12T>G (n.*12T>G) c.845T>G (p.Val282Gly) | |
12 | g.56004214C>A | CA480366313 | SUOX | c.825C>A (p.Val275=) c.*13C>A (n.*13C>A) c.846C>A (p.Val282=) | |
12 | g.56004214C>G | CA480366314 | SUOX | c.825C>G (p.Val275=) c.*13C>G (n.*13C>G) c.846C>G (p.Val282=) | |
12 | g.56004214C>T | CA480366316 | SUOX | c.825C>T (p.Val275=) c.*13C>T (n.*13C>T) c.846C>T (p.Val282=) | gnomAD v4 |
12 | g.56004215A>C | CA385288219 | SUOX | c.826A>C (p.Lys276Gln) c.*14A>C (n.*14A>C) c.847A>C (p.Lys283Gln) | |
12 | g.56004215A>G | CA385288220 | SUOX | c.826A>G (p.Lys276Glu) c.*14A>G (n.*14A>G) c.847A>G (p.Lys283Glu) | |
12 | g.56004215A>T | CA385288221 | SUOX | c.826A>T (p.Lys276Ter) c.*14A>T (n.*14A>T) c.847A>T (p.Lys283Ter) | |
12 | g.56004217del | CA2796096934 | SUOX | c.828del (p.Glu277LysfsTer2) c.*16del (n.*16del) c.849del (p.Glu284LysfsTer2) | |
12 | g.56004216A>C | CA385288222 | SUOX | c.827A>C (p.Lys276Thr) c.*15A>C (n.*15A>C) c.848A>C (p.Lys283Thr) | |
12 | g.56004216A>G | CA385288226 | SUOX | c.827A>G (p.Lys276Arg) c.*15A>G (n.*15A>G) c.848A>G (p.Lys283Arg) | |
12 | g.56004216A>T | CA385288223 | SUOX | c.827A>T (p.Lys276Ile) c.*15A>T (n.*15A>T) c.848A>T (p.Lys283Ile) | |
12 | g.56004217A>C | CA385288231 | SUOX | c.828A>C (p.Lys276Asn) c.*16A>C (n.*16A>C) c.849A>C (p.Lys283Asn) | |
12 | g.56004217A>G | CA480366319 | SUOX | c.828A>G (p.Lys276=) c.*16A>G (n.*16A>G) c.849A>G (p.Lys283=) | |
12 | g.56004217A>T | CA385288234 | SUOX | c.828A>T (p.Lys276Asn) c.*16A>T (n.*16A>T) c.849A>T (p.Lys283Asn) | |
12 | g.56004218G>A | CA385288236 | SUOX | c.829G>A (p.Glu277Lys) c.*17G>A (n.*17G>A) c.850G>A (p.Glu284Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004218G>C | CA385288239 | SUOX | c.829G>C (p.Glu277Gln) c.*17G>C (n.*17G>C) c.850G>C (p.Glu284Gln) | |
12 | g.56004218G= | CA2038197777 | SUOX | c.829G= (p.Glu277=) c.*17G= (n.*17G=) c.850G= (p.Glu284=) | |
12 | g.56004218G>T | CA385288244 | SUOX | c.829G>T (p.Glu277Ter) c.*17G>T (n.*17G>T) c.850G>T (p.Glu284Ter) | |
12 | g.56004219A>C | CA385288250 | SUOX | c.830A>C (p.Glu277Ala) c.*18A>C (n.*18A>C) c.851A>C (p.Glu284Ala) | |
12 | g.56004219A>G | CA385288249 | SUOX | c.830A>G (p.Glu277Gly) c.*18A>G (n.*18A>G) c.851A>G (p.Glu284Gly) | |
12 | g.56004219A>T | CA385288248 | SUOX | c.830A>T (p.Glu277Val) c.*18A>T (n.*18A>T) c.851A>T (p.Glu284Val) | COSMIC |
12 | g.56004220A>C | CA385288252 | SUOX | c.831A>C (p.Glu277Asp) c.*19A>C (n.*19A>C) c.852A>C (p.Glu284Asp) | |
12 | g.56004220A>G | CA480366322 | SUOX | c.831A>G (p.Glu277=) c.*19A>G (n.*19A>G) c.852A>G (p.Glu284=) | |
12 | g.56004220A>T | CA385288251 | SUOX | c.831A>T (p.Glu277Asp) c.*19A>T (n.*19A>T) c.852A>T (p.Glu284Asp) | |
12 | g.56004221G>A | CA6621052 | SUOX | c.832G>A (p.Val278Ile) c.*20G>A (n.*20G>A) c.853G>A (p.Val285Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004221G>C | CA385288258 | SUOX | c.832G>C (p.Val278Leu) c.*20G>C (n.*20G>C) c.853G>C (p.Val285Leu) | |
12 | g.56004221G= | CA2038197778 | SUOX | c.832G= (p.Val278=) c.*20G= (n.*20G=) c.853G= (p.Val285=) | |
12 | g.56004221G>T | CA385288261 | SUOX | c.832G>T (p.Val278Leu) c.*20G>T (n.*20G>T) c.853G>T (p.Val285Leu) | |
12 | g.56004222T>A | CA385288265 | SUOX | c.833T>A (p.Val278Glu) c.*21T>A (n.*21T>A) c.854T>A (p.Val285Glu) | |
12 | g.56004222T>C | CA385288268 | SUOX | c.833T>C (p.Val278Ala) c.*21T>C (n.*21T>C) c.854T>C (p.Val285Ala) | dbSNP gnomAD v4 |
12 | g.56004222T>G | CA385288278 | SUOX | c.833T>G (p.Val278Gly) c.*21T>G (n.*21T>G) c.854T>G (p.Val285Gly) | |
12 | g.56004222T= | CA2038197779 | SUOX | c.833T= (p.Val278=) c.*21T= (n.*21T=) c.854T= (p.Val285=) | |
12 | g.56004223A>C | CA480366323 | SUOX | c.834A>C (p.Val278=) c.*22A>C (n.*22A>C) c.855A>C (p.Val285=) | |
12 | g.56004223A>G | CA480366324 | SUOX | c.834A>G (p.Val278=) c.*22A>G (n.*22A>G) c.855A>G (p.Val285=) | gnomAD v4 |
12 | g.56004223A>T | CA480366325 | SUOX | c.834A>T (p.Val278=) c.*22A>T (n.*22A>T) c.855A>T (p.Val285=) | |
12 | g.56004224A= | CA2038197780 | SUOX | c.835A= (p.Lys279=) c.*23A= (n.*23A=) c.856A= (p.Lys286=) | |
12 | g.56004224A>C | CA385288294 | SUOX | c.835A>C (p.Lys279Gln) c.*23A>C (n.*23A>C) c.856A>C (p.Lys286Gln) | |
12 | g.56004224A>G | CA6621053 | SUOX | c.835A>G (p.Lys279Glu) c.*23A>G (n.*23A>G) c.856A>G (p.Lys286Glu) | dbSNP ExAC gnomAD v2 |
12 | g.56004224A>T | CA385288292 | SUOX | c.835A>T (p.Lys279Ter) c.*23A>T (n.*23A>T) c.856A>T (p.Lys286Ter) | |
12 | g.56004225A>C | CA385288300 | SUOX | c.836A>C (p.Lys279Thr) c.*24A>C (n.*24A>C) c.857A>C (p.Lys286Thr) | |
12 | g.56004225A>G | CA385288303 | SUOX | c.836A>G (p.Lys279Arg) c.*24A>G (n.*24A>G) c.857A>G (p.Lys286Arg) | |
12 | g.56004225A>T | CA385288309 | SUOX | c.836A>T (p.Lys279Ile) c.*24A>T (n.*24A>T) c.857A>T (p.Lys286Ile) | |
12 | g.56004226A>C | CA385288310 | SUOX | c.837A>C (p.Lys279Asn) c.*25A>C (n.*25A>C) c.858A>C (p.Lys286Asn) | |
12 | g.56004226A>G | CA480366331 | SUOX | c.837A>G (p.Lys279=) c.*25A>G (n.*25A>G) c.858A>G (p.Lys286=) | |
12 | g.56004226A>T | CA385288311 | SUOX | c.837A>T (p.Lys279Asn) c.*25A>T (n.*25A>T) c.858A>T (p.Lys286Asn) | |
12 | g.56004227G>A | CA6621054 | SUOX | c.838G>A (p.Gly280Ser) c.*26G>A (n.*26G>A) c.859G>A (p.Gly287Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004227G>C | CA385288317 | SUOX | c.838G>C (p.Gly280Arg) c.*26G>C (n.*26G>C) c.859G>C (p.Gly287Arg) | |
12 | g.56004227G= | CA2038197781 | SUOX | c.838G= (p.Gly280=) c.*26G= (n.*26G=) c.859G= (p.Gly287=) | |
12 | g.56004227G>T | CA385288316 | SUOX | c.838G>T (p.Gly280Cys) c.*26G>T (n.*26G>T) c.859G>T (p.Gly287Cys) | gnomAD v4 |
12 | g.56004228G>A | CA385288319 | SUOX | c.839G>A (p.Gly280Asp) c.*27G>A (n.*27G>A) c.860G>A (p.Gly287Asp) | COSMIC |
12 | g.56004228G>C | CA385288320 | SUOX | c.839G>C (p.Gly280Ala) c.*27G>C (n.*27G>C) c.860G>C (p.Gly287Ala) | |
12 | g.56004228G>T | CA385288321 | SUOX | c.839G>T (p.Gly280Val) c.*27G>T (n.*27G>T) c.860G>T (p.Gly287Val) | gnomAD v4 |
12 | g.56004229T>A | CA480366338 | SUOX | c.840T>A (p.Gly280=) c.*28T>A (n.*28T>A) c.861T>A (p.Gly287=) | gnomAD v4 |
12 | g.56004229T>C | CA480366339 | SUOX | c.840T>C (p.Gly280=) c.*28T>C (n.*28T>C) c.861T>C (p.Gly287=) | |
12 | g.56004229T>G | CA480366341 | SUOX | c.840T>G (p.Gly280=) c.*28T>G (n.*28T>G) c.861T>G (p.Gly287=) | |
12 | g.56004230C>A | CA385288326 | SUOX | c.841C>A (p.Leu281Met) c.*29C>A (n.*29C>A) c.862C>A (p.Leu288Met) | |
12 | g.56004230C>G | CA385288329 | SUOX | c.841C>G (p.Leu281Val) c.*29C>G (n.*29C>G) c.862C>G (p.Leu288Val) | |
12 | g.56004230C>T | CA480366342 | SUOX | c.841C>T (p.Leu281=) c.*29C>T (n.*29C>T) c.862C>T (p.Leu288=) | |
12 | g.56004230_56004232delinsCTG | CA2038197782 | SUOX | c.841_843delinsCTG (p.Leu281=) c.*29_*31delinsCTG (n.*29_*31delinsCTG) c.862_864delinsCTG (p.Leu288=) | |
12 | g.56004231T>A | CA385288332 | SUOX | c.842T>A (p.Leu281Gln) c.*30T>A (n.*30T>A) c.863T>A (p.Leu288Gln) | |
12 | g.56004231T>C | CA385288333 | SUOX | c.842T>C (p.Leu281Pro) c.*30T>C (n.*30T>C) c.863T>C (p.Leu288Pro) | |
12 | g.56004231T>G | CA385288336 | SUOX | c.842T>G (p.Leu281Arg) c.*30T>G (n.*30T>G) c.863T>G (p.Leu288Arg) | |
12 | g.56004231_56004232del | CA6621055 | SUOX | c.842_843del (p.Leu281ArgfsTer19) c.*30_*31del (n.*30_*31del) c.863_864del (p.Leu288ArgfsTer19) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004232G>A | CA480366348 | SUOX | c.843G>A (p.Leu281=) c.*31G>A (n.*31G>A) c.864G>A (p.Leu288=) | |
12 | g.56004232G>C | CA480366343 | SUOX | c.843G>C (p.Leu281=) c.*31G>C (n.*31G>C) c.864G>C (p.Leu288=) | |
12 | g.56004232G>T | CA480366345 | SUOX | c.843G>T (p.Leu281=) c.*31G>T (n.*31G>T) c.864G>T (p.Leu288=) | |
12 | g.56004233G>A | CA385288353 | SUOX | c.844G>A (p.Glu282Lys) c.*32G>A (n.*32G>A) c.865G>A (p.Glu289Lys) | |
12 | g.56004233G>C | CA385288367 | SUOX | c.844G>C (p.Glu282Gln) c.*32G>C (n.*32G>C) c.865G>C (p.Glu289Gln) | |
12 | g.56004233G>T | CA385288375 | SUOX | c.844G>T (p.Glu282Ter) c.*32G>T (n.*32G>T) c.865G>T (p.Glu289Ter) | |
12 | g.56004234A>C | CA385288385 | SUOX | c.845A>C (p.Glu282Ala) c.*33A>C (n.*33A>C) c.866A>C (p.Glu289Ala) | |
12 | g.56004234A>G | CA385288426 | SUOX | c.845A>G (p.Glu282Gly) c.*33A>G (n.*33A>G) c.866A>G (p.Glu289Gly) | |
12 | g.56004234A>T | CA385288403 | SUOX | c.845A>T (p.Glu282Val) c.*33A>T (n.*33A>T) c.866A>T (p.Glu289Val) | |
12 | g.56004235G>A | CA480366351 | SUOX | c.846G>A (p.Glu282=) c.*34G>A (n.*34G>A) c.867G>A (p.Glu289=) | dbSNP |
12 | g.56004235G>C | CA385288436 | SUOX | c.846G>C (p.Glu282Asp) c.*34G>C (n.*34G>C) c.867G>C (p.Glu289Asp) | |
12 | g.56004235G= | CA2038197783 | SUOX | c.846G= (p.Glu282=) c.*34G= (n.*34G=) c.867G= (p.Glu289=) | |
12 | g.56004235G>T | CA385288437 | SUOX | c.846G>T (p.Glu282Asp) c.*34G>T (n.*34G>T) c.867G>T (p.Glu289Asp) | |
12 | g.56004236T>A | CA385288440 | SUOX | c.847T>A (p.Trp283Arg) c.*35T>A (n.*35T>A) c.868T>A (p.Trp290Arg) | |
12 | g.56004236T>C | CA385288455 | SUOX | c.847T>C (p.Trp283Arg) c.*35T>C (n.*35T>C) c.868T>C (p.Trp290Arg) | |
12 | g.56004236T>G | CA385288459 | SUOX | c.847T>G (p.Trp283Gly) c.*35T>G (n.*35T>G) c.868T>G (p.Trp290Gly) | |
12 | g.56004237G>A | CA385288467 | SUOX | c.848G>A (p.Trp283Ter) c.*36G>A (n.*36G>A) c.869G>A (p.Trp290Ter) | |
12 | g.56004237G>C | CA385288473 | SUOX | c.848G>C (p.Trp283Ser) c.*36G>C (n.*36G>C) c.869G>C (p.Trp290Ser) | |
12 | g.56004237G>T | CA385288475 | SUOX | c.848G>T (p.Trp283Leu) c.*36G>T (n.*36G>T) c.869G>T (p.Trp290Leu) | |
12 | g.56004238G>A | CA385288482 | SUOX | c.849G>A (p.Trp283Ter) c.*37G>A (n.*37G>A) c.870G>A (p.Trp290Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004238G>C | CA385288489 | SUOX | c.849G>C (p.Trp283Cys) c.*37G>C (n.*37G>C) c.870G>C (p.Trp290Cys) | |
12 | g.56004238G= | CA2038197784 | SUOX | c.849G= (p.Trp283=) c.*37G= (n.*37G=) c.870G= (p.Trp290=) | |
12 | g.56004238G>T | CA385288495 | SUOX | c.849G>T (p.Trp283Cys) c.*37G>T (n.*37G>T) c.870G>T (p.Trp290Cys) | |
12 | g.56004239A>C | CA480366360 | SUOX | c.850A>C (p.Arg284=) c.*38A>C (n.*38A>C) c.871A>C (p.Arg291=) | |
12 | g.56004239A>G | CA385288510 | SUOX | c.850A>G (p.Arg284Gly) c.*38A>G (n.*38A>G) c.871A>G (p.Arg291Gly) | |
12 | g.56004239A>T | CA385288523 | SUOX | c.850A>T (p.Arg284Ter) c.*38A>T (n.*38A>T) c.871A>T (p.Arg291Ter) | |
12 | g.56004240G>A | CA385288525 | SUOX | c.851G>A (p.Arg284Lys) c.*39G>A (n.*39G>A) c.872G>A (p.Arg291Lys) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004240G>C | CA385288531 | SUOX | c.851G>C (p.Arg284Thr) c.*39G>C (n.*39G>C) c.872G>C (p.Arg291Thr) | |
12 | g.56004240G= | CA2038197785 | SUOX | c.851G= (p.Arg284=) c.*39G= (n.*39G=) c.872G= (p.Arg291=) | |
12 | g.56004240G>T | CA385288527 | SUOX | c.851G>T (p.Arg284Ile) c.*39G>T (n.*39G>T) c.872G>T (p.Arg291Ile) | |
12 | g.56004241A>C | CA385288547 | SUOX | c.852A>C (p.Arg284Ser) c.*40A>C (n.*40A>C) c.873A>C (p.Arg291Ser) | |
12 | g.56004241A>G | CA480366365 | SUOX | c.852A>G (p.Arg284=) c.*40A>G (n.*40A>G) c.873A>G (p.Arg291=) | |
12 | g.56004241A>T | CA385288564 | SUOX | c.852A>T (p.Arg284Ser) c.*40A>T (n.*40A>T) c.873A>T (p.Arg291Ser) | |
12 | g.56004242A>C | CA385288585 | SUOX | c.853A>C (p.Thr285Pro) c.*41A>C (n.*41A>C) c.874A>C (p.Thr292Pro) | |
12 | g.56004242A>G | CA385288586 | SUOX | c.853A>G (p.Thr285Ala) c.*41A>G (n.*41A>G) c.874A>G (p.Thr292Ala) | gnomAD v4 |
12 | g.56004242A>T | CA385288589 | SUOX | c.853A>T (p.Thr285Ser) c.*41A>T (n.*41A>T) c.874A>T (p.Thr292Ser) | |
12 | g.56004243C>A | CA385288593 | SUOX | c.854C>A (p.Thr285Lys) c.*42C>A (n.*42C>A) c.875C>A (p.Thr292Lys) | |
12 | g.56004243C>G | CA385288594 | SUOX | c.854C>G (p.Thr285Arg) c.*42C>G (n.*42C>G) c.875C>G (p.Thr292Arg) | gnomAD v4 |
12 | g.56004243C>T | CA385288595 | SUOX | c.854C>T (p.Thr285Ile) c.*42C>T (n.*42C>T) c.875C>T (p.Thr292Ile) | |
12 | g.56004244A>C | CA480366367 | SUOX | c.855A>C (p.Thr285=) c.*43A>C (n.*43A>C) c.876A>C (p.Thr292=) | |
12 | g.56004244A>G | CA480366368 | SUOX | c.855A>G (p.Thr285=) c.*43A>G (n.*43A>G) c.876A>G (p.Thr292=) | |
12 | g.56004244A>T | CA480366369 | SUOX | c.855A>T (p.Thr285=) c.*43A>T (n.*43A>T) c.876A>T (p.Thr292=) | |
12 | g.56004245G>A | CA385288602 | SUOX | c.856G>A (p.Gly286Arg) c.*44G>A (n.*44G>A) c.877G>A (p.Gly293Arg) | dbSNP gnomAD v2 |
12 | g.56004245G>C | CA385288609 | SUOX | c.856G>C (p.Gly286Arg) c.*44G>C (n.*44G>C) c.877G>C (p.Gly293Arg) | |
12 | g.56004245G= | CA2038197786 | SUOX | c.856G= (p.Gly286=) c.*44G= (n.*44G=) c.877G= (p.Gly293=) | |
12 | g.56004245G>T | CA385288620 | SUOX | c.856G>T (p.Gly286Ter) c.*44G>T (n.*44G>T) c.877G>T (p.Gly293Ter) | |
12 | g.56004246G>A | CA385288655 | SUOX | c.857G>A (p.Gly286Glu) c.*45G>A (n.*45G>A) c.878G>A (p.Gly293Glu) | |
12 | g.56004246G>C | CA385288663 | SUOX | c.857G>C (p.Gly286Ala) c.*45G>C (n.*45G>C) c.878G>C (p.Gly293Ala) | |
12 | g.56004246G>T | CA385288632 | SUOX | c.857G>T (p.Gly286Val) c.*45G>T (n.*45G>T) c.878G>T (p.Gly293Val) | |
12 | g.56004247A>C | CA480366371 | SUOX | c.858A>C (p.Gly286=) c.*46A>C (n.*46A>C) c.879A>C (p.Gly293=) | |
12 | g.56004247A>G | CA480366372 | SUOX | c.858A>G (p.Gly286=) c.*46A>G (n.*46A>G) c.879A>G (p.Gly293=) | |
12 | g.56004247A>T | CA480366374 | SUOX | c.858A>T (p.Gly286=) c.*46A>T (n.*46A>T) c.879A>T (p.Gly293=) | |
12 | g.56004248G>A | CA385288677 | SUOX | c.859G>A (p.Ala287Thr) c.*47G>A (n.*47G>A) c.880G>A (p.Ala294Thr) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004248G>C | CA385288688 | SUOX | c.859G>C (p.Ala287Pro) c.*47G>C (n.*47G>C) c.880G>C (p.Ala294Pro) | |
12 | g.56004248G= | CA2038197787 | SUOX | c.859G= (p.Ala287=) c.*47G= (n.*47G=) c.880G= (p.Ala294=) | |
12 | g.56004248G>T | CA385288687 | SUOX | c.859G>T (p.Ala287Ser) c.*47G>T (n.*47G>T) c.880G>T (p.Ala294Ser) | |
12 | g.56004249C>A | CA385288691 | SUOX | c.860C>A (p.Ala287Asp) c.*48C>A (n.*48C>A) c.881C>A (p.Ala294Asp) | |
12 | g.56004249C>G | CA385288699 | SUOX | c.860C>G (p.Ala287Gly) c.*48C>G (n.*48C>G) c.881C>G (p.Ala294Gly) | gnomAD v4 |
12 | g.56004249C>T | CA385288703 | SUOX | c.860C>T (p.Ala287Val) c.*48C>T (n.*48C>T) c.881C>T (p.Ala294Val) | |
12 | g.56004250C>A | CA480366378 | SUOX | c.861C>A (p.Ala287=) c.*49C>A (n.*49C>A) c.882C>A (p.Ala294=) | |
12 | g.56004250C>G | CA480366379 | SUOX | c.861C>G (p.Ala287=) c.*49C>G (n.*49C>G) c.882C>G (p.Ala294=) | |
12 | g.56004250C>T | CA480366380 | SUOX | c.861C>T (p.Ala287=) c.*49C>T (n.*49C>T) c.882C>T (p.Ala294=) | |
12 | g.56004251A= | CA2038197788 | SUOX | c.862A= (p.Ile288=) c.*50A= (n.*50A=) c.883A= (p.Ile295=) | |
12 | g.56004251A>C | CA385288718 | SUOX | c.862A>C (p.Ile288Leu) c.*50A>C (n.*50A>C) c.883A>C (p.Ile295Leu) | |
12 | g.56004251A>G | CA385288724 | SUOX | c.862A>G (p.Ile288Val) c.*50A>G (n.*50A>G) c.883A>G (p.Ile295Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004251A>T | CA385288729 | SUOX | c.862A>T (p.Ile288Phe) c.*50A>T (n.*50A>T) c.883A>T (p.Ile295Phe) | |
12 | g.56004252T>A | CA385288735 | SUOX | c.863T>A (p.Ile288Asn) c.*51T>A (n.*51T>A) c.884T>A (p.Ile295Asn) | gnomAD v4 |
12 | g.56004252T>C | CA385288736 | SUOX | c.863T>C (p.Ile288Thr) c.*51T>C (n.*51T>C) c.884T>C (p.Ile295Thr) | dbSNP gnomAD v4 |
12 | g.56004252T>G | CA385288738 | SUOX | c.863T>G (p.Ile288Ser) c.*51T>G (n.*51T>G) c.884T>G (p.Ile295Ser) | |
12 | g.56004252T= | CA2038197789 | SUOX | c.863T= (p.Ile288=) c.*51T= (n.*51T=) c.884T= (p.Ile295=) | |
12 | g.56004253C>A | CA480366385 | SUOX | c.864C>A (p.Ile288=) c.*52C>A (n.*52C>A) c.885C>A (p.Ile295=) | |
12 | g.56004253C= | CA2038197790 | SUOX | c.864C= (p.Ile288=) c.*52C= (n.*52C=) c.885C= (p.Ile295=) | |
12 | g.56004253C>G | CA385288742 | SUOX | c.864C>G (p.Ile288Met) c.*52C>G (n.*52C>G) c.885C>G (p.Ile295Met) | |
12 | g.56004253C>T | CA480366386 | SUOX | c.864C>T (p.Ile288=) c.*52C>T (n.*52C>T) c.885C>T (p.Ile295=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.56004254A= | CA2038197791 | SUOX | c.865A= (p.Ser289=) c.*53A= (n.*53A=) c.886A= (p.Ser296=) | |
12 | g.56004254A>C | CA385288743 | SUOX | c.865A>C (p.Ser289Arg) c.*53A>C (n.*53A>C) c.886A>C (p.Ser296Arg) | gnomAD v4 |
12 | g.56004254A>G | CA6621056 | SUOX | c.865A>G (p.Ser289Gly) c.*53A>G (n.*53A>G) c.886A>G (p.Ser296Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004254A>T | CA385288749 | SUOX | c.865A>T (p.Ser289Cys) c.*53A>T (n.*53A>T) c.886A>T (p.Ser296Cys) | |
12 | g.56004255G>A | CA385288760 | SUOX | c.866G>A (p.Ser289Asn) c.*54G>A (n.*54G>A) c.887G>A (p.Ser296Asn) | |
12 | g.56004255G>C | CA385288770 | SUOX | c.866G>C (p.Ser289Thr) c.*54G>C (n.*54G>C) c.887G>C (p.Ser296Thr) | |
12 | g.56004255G>T | CA385288766 | SUOX | c.866G>T (p.Ser289Ile) c.*54G>T (n.*54G>T) c.887G>T (p.Ser296Ile) | |
12 | g.56004256C>A | CA385288781 | SUOX | c.867C>A (p.Ser289Arg) c.*55C>A (n.*55C>A) c.888C>A (p.Ser296Arg) | |
12 | g.56004256C>G | CA385288789 | SUOX | c.867C>G (p.Ser289Arg) c.*55C>G (n.*55C>G) c.888C>G (p.Ser296Arg) | |
12 | g.56004256C>T | CA480366390 | SUOX | c.867C>T (p.Ser289=) c.*55C>T (n.*55C>T) c.888C>T (p.Ser296=) | |
12 | g.56004257A= | CA2038197792 | SUOX | c.868A= (p.Thr290=) c.*56A= (n.*56A=) c.889A= (p.Thr297=) | |
12 | g.56004257A>C | CA385288793 | SUOX | c.868A>C (p.Thr290Pro) c.*56A>C (n.*56A>C) c.889A>C (p.Thr297Pro) | |
12 | g.56004257A>G | CA385288796 | SUOX | c.868A>G (p.Thr290Ala) c.*56A>G (n.*56A>G) c.889A>G (p.Thr297Ala) | ClinVar |
12 | g.56004257A>T | CA385288798 | SUOX | c.868A>T (p.Thr290Ser) c.*56A>T (n.*56A>T) c.889A>T (p.Thr297Ser) | dbSNP gnomAD v4 |
12 | g.56004258C>A | CA385288800 | SUOX | c.869C>A (p.Thr290Asn) c.*57C>A (n.*57C>A) c.890C>A (p.Thr297Asn) | |
12 | g.56004258C>G | CA385288804 | SUOX | c.869C>G (p.Thr290Ser) c.*57C>G (n.*57C>G) c.890C>G (p.Thr297Ser) | |
12 | g.56004258C>T | CA385288809 | SUOX | c.869C>T (p.Thr290Ile) c.*57C>T (n.*57C>T) c.890C>T (p.Thr297Ile) | |
12 | g.56004259T>A | CA480366395 | SUOX | c.870T>A (p.Thr290=) c.*58T>A (n.*58T>A) c.891T>A (p.Thr297=) | |
12 | g.56004259T>C | CA480366397 | SUOX | c.870T>C (p.Thr290=) c.*58T>C (n.*58T>C) c.891T>C (p.Thr297=) | ClinVar gnomAD v4 |
12 | g.56004259T>G | CA480366396 | SUOX | c.870T>G (p.Thr290=) c.*58T>G (n.*58T>G) c.891T>G (p.Thr297=) | |
12 | g.56004260G>A | CA385288826 | SUOX | c.871G>A (p.Ala291Thr) c.*59G>A (n.*59G>A) c.892G>A (p.Ala298Thr) | |
12 | g.56004260G>C | CA385288827 | SUOX | c.871G>C (p.Ala291Pro) c.*59G>C (n.*59G>C) c.892G>C (p.Ala298Pro) | |
12 | g.56004260G>T | CA385288828 | SUOX | c.871G>T (p.Ala291Ser) c.*59G>T (n.*59G>T) c.892G>T (p.Ala298Ser) | |
12 | g.56004261C>A | CA385288849 | SUOX | c.872C>A (p.Ala291Glu) c.*60C>A (n.*60C>A) c.893C>A (p.Ala298Glu) | |
12 | g.56004261C>G | CA385288844 | SUOX | c.872C>G (p.Ala291Gly) c.*60C>G (n.*60C>G) c.893C>G (p.Ala298Gly) | |
12 | g.56004261C>T | CA385288836 | SUOX | c.872C>T (p.Ala291Val) c.*60C>T (n.*60C>T) c.893C>T (p.Ala298Val) | ClinVar gnomAD v4 |
12 | g.56004262A>C | CA480366402 | SUOX | c.873A>C (p.Ala291=) c.*61A>C (n.*61A>C) c.894A>C (p.Ala298=) | gnomAD v4 |
12 | g.56004262A>G | CA480366404 | SUOX | c.873A>G (p.Ala291=) c.*61A>G (n.*61A>G) c.894A>G (p.Ala298=) | |
12 | g.56004262A>T | CA480366406 | SUOX | c.873A>T (p.Ala291=) c.*61A>T (n.*61A>T) c.894A>T (p.Ala298=) | |
12 | g.56004263C>A | CA385288859 | SUOX | c.874C>A (p.Arg292Ser) c.*62C>A (n.*62C>A) c.895C>A (p.Arg299Ser) | |
12 | g.56004263C= | CA2038197793 | SUOX | c.874C= (p.Arg292=) c.*62C= (n.*62C=) c.895C= (p.Arg299=) | |
12 | g.56004263C>G | CA385288850 | SUOX | c.874C>G (p.Arg292Gly) c.*62C>G (n.*62C>G) c.895C>G (p.Arg299Gly) | |
12 | g.56004263C>T | CA6621057 | SUOX | c.874C>T (p.Arg292Cys) c.*62C>T (n.*62C>T) c.895C>T (p.Arg299Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004264G>A | CA6621058 | SUOX | c.875G>A (p.Arg292His) c.*63G>A (n.*63G>A) c.896G>A (p.Arg299His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004264G>C | CA385288865 | SUOX | c.875G>C (p.Arg292Pro) c.*63G>C (n.*63G>C) c.896G>C (p.Arg299Pro) | |
12 | g.56004264G= | CA2038197794 | SUOX | c.875G= (p.Arg292=) c.*63G= (n.*63G=) c.896G= (p.Arg299=) | |
12 | g.56004264G>T | CA385288866 | SUOX | c.875G>T (p.Arg292Leu) c.*63G>T (n.*63G>T) c.896G>T (p.Arg299Leu) | |
12 | g.56004265C>A | CA480366414 | SUOX | c.876C>A (p.Arg292=) c.*64C>A (n.*64C>A) c.897C>A (p.Arg299=) | |
12 | g.56004265C>G | CA480366416 | SUOX | c.876C>G (p.Arg292=) c.*64C>G (n.*64C>G) c.897C>G (p.Arg299=) | |
12 | g.56004265C>T | CA480366417 | SUOX | c.876C>T (p.Arg292=) c.*64C>T (n.*64C>T) c.897C>T (p.Arg299=) | |
12 | g.56004266T>A | CA385288883 | SUOX | c.877T>A (p.Trp293Arg) c.*65T>A (n.*65T>A) c.898T>A (p.Trp300Arg) | |
12 | g.56004266T>C | CA385288879 | SUOX | c.877T>C (p.Trp293Arg) c.*65T>C (n.*65T>C) c.898T>C (p.Trp300Arg) | gnomAD v4 |
12 | g.56004266T>G | CA385288872 | SUOX | c.877T>G (p.Trp293Gly) c.*65T>G (n.*65T>G) c.898T>G (p.Trp300Gly) | |
12 | g.56004267G>A | CA385288884 | SUOX | c.878G>A (p.Trp293Ter) c.*66G>A (n.*66G>A) c.899G>A (p.Trp300Ter) | |
12 | g.56004267G>C | CA385288885 | SUOX | c.878G>C (p.Trp293Ser) c.*66G>C (n.*66G>C) c.899G>C (p.Trp300Ser) | |
12 | g.56004267G>T | CA385288889 | SUOX | c.878G>T (p.Trp293Leu) c.*66G>T (n.*66G>T) c.899G>T (p.Trp300Leu) | |
12 | g.56004268G>A | CA385288897 | SUOX | c.879G>A (p.Trp293Ter) c.*67G>A (n.*67G>A) c.900G>A (p.Trp300Ter) | |
12 | g.56004268G>C | CA385288903 | SUOX | c.879G>C (p.Trp293Cys) c.*67G>C (n.*67G>C) c.900G>C (p.Trp300Cys) | |
12 | g.56004268G>T | CA385288911 | SUOX | c.879G>T (p.Trp293Cys) c.*67G>T (n.*67G>T) c.900G>T (p.Trp300Cys) | |
12 | g.56004269G>A | CA385288916 | SUOX | c.880G>A (p.Ala294Thr) c.*68G>A (n.*68G>A) c.901G>A (p.Ala301Thr) | |
12 | g.56004269G>C | CA385288918 | SUOX | c.880G>C (p.Ala294Pro) c.*68G>C (n.*68G>C) c.901G>C (p.Ala301Pro) | |
12 | g.56004269G>T | CA385288917 | SUOX | c.880G>T (p.Ala294Ser) c.*68G>T (n.*68G>T) c.901G>T (p.Ala301Ser) | |
12 | g.56004270C>A | CA385288919 | SUOX | c.881C>A (p.Ala294Asp) c.*69C>A (n.*69C>A) c.902C>A (p.Ala301Asp) | ClinVar |
12 | g.56004270C= | CA2038197795 | SUOX | c.881C= (p.Ala294=) c.*69C= (n.*69C=) c.902C= (p.Ala301=) | |
12 | g.56004270C>G | CA385288927 | SUOX | c.881C>G (p.Ala294Gly) c.*69C>G (n.*69C>G) c.902C>G (p.Ala301Gly) | |
12 | g.56004270C>T | CA385288931 | SUOX | c.881C>T (p.Ala294Val) c.*69C>T (n.*69C>T) c.902C>T (p.Ala301Val) | dbSNP gnomAD v2 |
12 | g.56004271T>A | CA480366424 | SUOX | c.882T>A (p.Ala294=) c.*70T>A (n.*70T>A) c.903T>A (p.Ala301=) | |
12 | g.56004271T>C | CA480366426 | SUOX | c.882T>C (p.Ala294=) c.*70T>C (n.*70T>C) c.903T>C (p.Ala301=) | |
12 | g.56004271T>G | CA480366425 | SUOX | c.882T>G (p.Ala294=) c.*70T>G (n.*70T>G) c.903T>G (p.Ala301=) | |
12 | g.56004271_56004272delinsTG | CA2038197796 | SUOX | c.882_883delinsTG (p.Ala294=) c.*70_*71delinsTG (n.*70_*71delinsTG) c.903_904delinsTG (p.Ala301=) | |
12 | g.56004272G>A | CA385288932 | SUOX | c.883G>A (p.Gly295Arg) c.*71G>A (n.*71G>A) c.904G>A (p.Gly302Arg) | gnomAD v4 COSMIC |
12 | g.56004272G>C | CA385288934 | SUOX | c.883G>C (p.Gly295Arg) c.*71G>C (n.*71G>C) c.904G>C (p.Gly302Arg) | |
12 | g.56004272G>T | CA385288937 | SUOX | c.883G>T (p.Gly295Trp) c.*71G>T (n.*71G>T) c.904G>T (p.Gly302Trp) | |
12 | g.56004275del | CA2038197797 | SUOX | c.886del (p.Ala296HisfsTer7) c.*74del (n.*74del) c.907del (p.Ala303HisfsTer7) | dbSNP gnomAD v4 |
12 | g.56004273G>A | CA385288941 | SUOX | c.884G>A (p.Gly295Glu) c.*72G>A (n.*72G>A) c.905G>A (p.Gly302Glu) | |
12 | g.56004273G>C | CA385288954 | SUOX | c.884G>C (p.Gly295Ala) c.*72G>C (n.*72G>C) c.905G>C (p.Gly302Ala) | ClinVar gnomAD v4 |
12 | g.56004273G>T | CA385288969 | SUOX | c.884G>T (p.Gly295Val) c.*72G>T (n.*72G>T) c.905G>T (p.Gly302Val) | |
12 | g.56004274G>A | CA480366429 | SUOX | c.885G>A (p.Gly295=) c.*73G>A (n.*73G>A) c.906G>A (p.Gly302=) | |
12 | g.56004274G>C | CA480366430 | SUOX | c.885G>C (p.Gly295=) c.*73G>C (n.*73G>C) c.906G>C (p.Gly302=) | dbSNP |
12 | g.56004274G= | CA2038197798 | SUOX | c.885G= (p.Gly295=) c.*73G= (n.*73G=) c.906G= (p.Gly302=) | |
12 | g.56004274G>T | CA480366431 | SUOX | c.885G>T (p.Gly295=) c.*73G>T (n.*73G>T) c.906G>T (p.Gly302=) | |
12 | g.56004275G>A | CA385288977 | SUOX | c.886G>A (p.Ala296Thr) c.*74G>A (n.*74G>A) c.907G>A (p.Ala303Thr) | COSMIC |
12 | g.56004275G>C | CA385288981 | SUOX | c.886G>C (p.Ala296Pro) c.*74G>C (n.*74G>C) c.907G>C (p.Ala303Pro) | |
12 | g.56004275G= | CA2038197799 | SUOX | c.886G= (p.Ala296=) c.*74G= (n.*74G=) c.907G= (p.Ala303=) | |
12 | g.56004275G>T | CA385288983 | SUOX | c.886G>T (p.Ala296Ser) c.*74G>T (n.*74G>T) c.907G>T (p.Ala303Ser) | dbSNP |
12 | g.56004276C>A | CA385288996 | SUOX | c.887C>A (p.Ala296Glu) c.*75C>A (n.*75C>A) c.908C>A (p.Ala303Glu) | |
12 | g.56004276C>G | CA385289001 | SUOX | c.887C>G (p.Ala296Gly) c.*75C>G (n.*75C>G) c.908C>G (p.Ala303Gly) | |
12 | g.56004276C>T | CA385288991 | SUOX | c.887C>T (p.Ala296Val) c.*75C>T (n.*75C>T) c.908C>T (p.Ala303Val) | dbSNP |
12 | g.56004277A= | CA2038197800 | SUOX | c.888A= (p.Ala296=) c.*76A= (n.*76A=) c.909A= (p.Ala303=) | |
12 | g.56004277A>C | CA480366432 | SUOX | c.888A>C (p.Ala296=) c.*76A>C (n.*76A>C) c.909A>C (p.Ala303=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004277A>G | CA480366433 | SUOX | c.888A>G (p.Ala296=) c.*76A>G (n.*76A>G) c.909A>G (p.Ala303=) | |
12 | g.56004277A>T | CA480366434 | SUOX | c.888A>T (p.Ala296=) c.*76A>T (n.*76A>T) c.909A>T (p.Ala303=) | |
12 | g.56004278C>A | CA480366435 | SUOX | c.889C>A (p.Arg297=) c.*77C>A (n.*77C>A) c.910C>A (p.Arg304=) | |
12 | g.56004278C= | CA2038197801 | SUOX | c.889C= (p.Arg297=) c.*77C= (n.*77C=) c.910C= (p.Arg304=) | |
12 | g.56004278C>G | CA385289004 | SUOX | c.889C>G (p.Arg297Gly) c.*77C>G (n.*77C>G) c.910C>G (p.Arg304Gly) | |
12 | g.56004278C>T | CA6621059 | SUOX | c.889C>T (p.Arg297Trp) c.*77C>T (n.*77C>T) c.910C>T (p.Arg304Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004279G>A | CA6621060 | SUOX | c.890G>A (p.Arg297Gln) c.*78G>A (n.*78G>A) c.911G>A (p.Arg304Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004279G>C | CA385289016 | SUOX | c.890G>C (p.Arg297Pro) c.*78G>C (n.*78G>C) c.911G>C (p.Arg304Pro) | gnomAD v4 |
12 | g.56004279G= | CA2038197802 | SUOX | c.890G= (p.Arg297=) c.*78G= (n.*78G=) c.911G= (p.Arg304=) | |
12 | g.56004279G>T | CA385289018 | SUOX | c.890G>T (p.Arg297Leu) c.*78G>T (n.*78G>T) c.911G>T (p.Arg304Leu) | |
12 | g.56004280G>A | CA480366442 | SUOX | c.891G>A (p.Arg297=) c.*79G>A (n.*79G>A) c.912G>A (p.Arg304=) | |
12 | g.56004280G>C | CA480366441 | SUOX | c.891G>C (p.Arg297=) c.*79G>C (n.*79G>C) c.912G>C (p.Arg304=) | |
12 | g.56004280G>T | CA480366440 | SUOX | c.891G>T (p.Arg297=) c.*79G>T (n.*79G>T) c.912G>T (p.Arg304=) | |
12 | g.56004280_56004282delinsGCT | CA2038197803 | SUOX | c.891_893delinsGCT (p.Arg297=) c.*79_*81delinsGCT (n.*79_*81delinsGCT) c.912_914delinsGCT (p.Arg304=) | |
12 | g.56004281C>A | CA385289024 | SUOX | c.892C>A (p.Leu298Ile) c.*80C>A (n.*80C>A) c.913C>A (p.Leu305Ile) | |
12 | g.56004281C= | CA2038197805 | SUOX | c.892C= (p.Leu298=) c.*80C= (n.*80C=) c.913C= (p.Leu305=) | |
12 | g.56004281C>G | CA385289021 | SUOX | c.892C>G (p.Leu298Val) c.*80C>G (n.*80C>G) c.913C>G (p.Leu305Val) | gnomAD v4 |
12 | g.56004281C>T | CA385289020 | SUOX | c.892C>T (p.Leu298Phe) c.*80C>T (n.*80C>T) c.913C>T (p.Leu305Phe) | dbSNP gnomAD v4 |
12 | g.56004283_56004284del | CA2038197804 | SUOX | c.894_895del (p.Cys299Ter) c.*82_*83del (n.*82_*83del) c.915_916del (p.Cys306Ter) | dbSNP |
12 | g.56004282T>A | CA385289028 | SUOX | c.893T>A (p.Leu298His) c.*81T>A (n.*81T>A) c.914T>A (p.Leu305His) | |
12 | g.56004282T>C | CA385289033 | SUOX | c.893T>C (p.Leu298Pro) c.*81T>C (n.*81T>C) c.914T>C (p.Leu305Pro) | |
12 | g.56004282T>G | CA385289040 | SUOX | c.893T>G (p.Leu298Arg) c.*81T>G (n.*81T>G) c.914T>G (p.Leu305Arg) | |
12 | g.56004283C>A | CA480366446 | SUOX | c.894C>A (p.Leu298=) c.*82C>A (n.*82C>A) c.915C>A (p.Leu305=) | |
12 | g.56004283C= | CA2038197806 | SUOX | c.894C= (p.Leu298=) c.*82C= (n.*82C=) c.915C= (p.Leu305=) | |
12 | g.56004283C>G | CA480366447 | SUOX | c.894C>G (p.Leu298=) c.*82C>G (n.*82C>G) c.915C>G (p.Leu305=) | |
12 | g.56004283C>T | CA480366448 | SUOX | c.894C>T (p.Leu298=) c.*82C>T (n.*82C>T) c.915C>T (p.Leu305=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004284T>A | CA385289046 | SUOX | c.895T>A (p.Cys299Ser) c.*83T>A (n.*83T>A) c.916T>A (p.Cys306Ser) | |
12 | g.56004284T>C | CA385289050 | SUOX | c.895T>C (p.Cys299Arg) c.*83T>C (n.*83T>C) c.916T>C (p.Cys306Arg) | gnomAD v4 |
12 | g.56004284T>G | CA385289051 | SUOX | c.895T>G (p.Cys299Gly) c.*83T>G (n.*83T>G) c.916T>G (p.Cys306Gly) | |
12 | g.56004285G>A | CA385289078 | SUOX | c.896G>A (p.Cys299Tyr) c.*84G>A (n.*84G>A) c.917G>A (p.Cys306Tyr) | |
12 | g.56004285G>C | CA385289055 | SUOX | c.896G>C (p.Cys299Ser) c.*84G>C (n.*84G>C) c.917G>C (p.Cys306Ser) | |
12 | g.56004285G>T | CA385289069 | SUOX | c.896G>T (p.Cys299Phe) c.*84G>T (n.*84G>T) c.917G>T (p.Cys306Phe) | |
12 | g.56004286T>A | CA385289085 | SUOX | c.897T>A (p.Cys299Ter) c.*85T>A (n.*85T>A) c.918T>A (p.Cys306Ter) | |
12 | g.56004286T>C | CA480366453 | SUOX | c.897T>C (p.Cys299=) c.*85T>C (n.*85T>C) c.918T>C (p.Cys306=) | |
12 | g.56004286T>G | CA385289093 | SUOX | c.897T>G (p.Cys299Trp) c.*85T>G (n.*85T>G) c.918T>G (p.Cys306Trp) | |
12 | g.56004287G>A | CA385289106 | SUOX | c.898G>A (p.Asp300Asn) c.*86G>A (n.*86G>A) c.919G>A (p.Asp307Asn) | |
12 | g.56004287G>C | CA385289111 | SUOX | c.898G>C (p.Asp300His) c.*86G>C (n.*86G>C) c.919G>C (p.Asp307His) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004287G= | CA2038197807 | SUOX | c.898G= (p.Asp300=) c.*86G= (n.*86G=) c.919G= (p.Asp307=) | |
12 | g.56004287G>T | CA385289113 | SUOX | c.898G>T (p.Asp300Tyr) c.*86G>T (n.*86G>T) c.919G>T (p.Asp307Tyr) | dbSNP |
12 | g.56004288A>C | CA385289118 | SUOX | c.899A>C (p.Asp300Ala) c.*87A>C (n.*87A>C) c.920A>C (p.Asp307Ala) | |
12 | g.56004288A>G | CA385289128 | SUOX | c.899A>G (p.Asp300Gly) c.*87A>G (n.*87A>G) c.920A>G (p.Asp307Gly) | |
12 | g.56004288A>T | CA385289133 | SUOX | c.899A>T (p.Asp300Val) c.*87A>T (n.*87A>T) c.920A>T (p.Asp307Val) | |
12 | g.56004289T>A | CA385289134 | SUOX | c.900T>A (p.Asp300Glu) c.*88T>A (n.*88T>A) c.921T>A (p.Asp307Glu) | |
12 | g.56004289T>C | CA480366456 | SUOX | c.900T>C (p.Asp300=) c.*88T>C (n.*88T>C) c.921T>C (p.Asp307=) | |
12 | g.56004289T>G | CA385289135 | SUOX | c.900T>G (p.Asp300Glu) c.*88T>G (n.*88T>G) c.921T>G (p.Asp307Glu) | |
12 | g.56004292_56004293del | CA2619253574 | SUOX | c.903_904del (p.Leu302SerfsTer9) c.*91_*92del (n.*91_*92del) c.924_925del (p.Leu309SerfsTer9) | gnomAD v4 |
12 | g.56004290G>A | CA385289140 | SUOX | c.901G>A (p.Val301Met) c.*89G>A (n.*89G>A) c.922G>A (p.Val308Met) | gnomAD v4 |
12 | g.56004290G>C | CA385289146 | SUOX | c.901G>C (p.Val301Leu) c.*89G>C (n.*89G>C) c.922G>C (p.Val308Leu) | |
12 | g.56004290G>T | CA385289157 | SUOX | c.901G>T (p.Val301Leu) c.*89G>T (n.*89G>T) c.922G>T (p.Val308Leu) | |
12 | g.56004291T>A | CA385289174 | SUOX | c.902T>A (p.Val301Glu) c.*90T>A (n.*90T>A) c.923T>A (p.Val308Glu) | |
12 | g.56004291T>C | CA385289178 | SUOX | c.902T>C (p.Val301Ala) c.*90T>C (n.*90T>C) c.923T>C (p.Val308Ala) | |
12 | g.56004291T>G | CA385289175 | SUOX | c.902T>G (p.Val301Gly) c.*90T>G (n.*90T>G) c.923T>G (p.Val308Gly) | |
12 | g.56004292G>A | CA6621061 | SUOX | c.903G>A (p.Val301=) c.*91G>A (n.*91G>A) c.924G>A (p.Val308=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004292G>C | CA6621062 | SUOX | c.903G>C (p.Val301=) c.*91G>C (n.*91G>C) c.924G>C (p.Val308=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004292G= | CA2038197808 | SUOX | c.903G= (p.Val301=) c.*91G= (n.*91G=) c.924G= (p.Val308=) | |
12 | g.56004292G>T | CA480366459 | SUOX | c.903G>T (p.Val301=) c.*91G>T (n.*91G>T) c.924G>T (p.Val308=) |