Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
12 | g.56004293T>A | CA385289187 | SUOX | c.904T>A (p.Leu302Ile) c.*92T>A (n.*92T>A) c.925T>A (p.Leu309Ile) | |
12 | g.56004293T>C | CA480366461 | SUOX | c.904T>C (p.Leu302=) c.*92T>C (n.*92T>C) c.925T>C (p.Leu309=) | |
12 | g.56004293T>G | CA385289192 | SUOX | c.904T>G (p.Leu302Val) c.*92T>G (n.*92T>G) c.925T>G (p.Leu309Val) | |
12 | g.56004294T>A | CA385289193 | SUOX | c.905T>A (p.Leu302Ter) c.*93T>A (n.*93T>A) c.926T>A (p.Leu309Ter) | |
12 | g.56004294T>C | CA385289194 | SUOX | c.905T>C (p.Leu302Ser) c.*93T>C (n.*93T>C) c.926T>C (p.Leu309Ser) | |
12 | g.56004294T>G | CA385289199 | SUOX | c.905T>G (p.Leu302Ter) c.*93T>G (n.*93T>G) c.926T>G (p.Leu309Ter) | ClinVar dbSNP |
12 | g.56004295A>C | CA385289211 | SUOX | c.906A>C (p.Leu302Phe) c.*94A>C (n.*94A>C) c.927A>C (p.Leu309Phe) | |
12 | g.56004295A>G | CA480366465 | SUOX | c.906A>G (p.Leu302=) c.*94A>G (n.*94A>G) c.927A>G (p.Leu309=) | |
12 | g.56004295A>T | CA385289213 | SUOX | c.906A>T (p.Leu302Phe) c.*94A>T (n.*94A>T) c.927A>T (p.Leu309Phe) | |
12 | g.56004296G>A | CA385289216 | SUOX | c.907G>A (p.Ala303Thr) c.*95G>A (n.*95G>A) c.928G>A (p.Ala310Thr) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004296G>C | CA385289220 | SUOX | c.907G>C (p.Ala303Pro) c.*95G>C (n.*95G>C) c.928G>C (p.Ala310Pro) | |
12 | g.56004296G= | CA2038197809 | SUOX | c.907G= (p.Ala303=) c.*95G= (n.*95G=) c.928G= (p.Ala310=) | |
12 | g.56004296G>T | CA385289225 | SUOX | c.907G>T (p.Ala303Ser) c.*95G>T (n.*95G>T) c.928G>T (p.Ala310Ser) | |
12 | g.56004296_56004297delinsGC | CA2038197810 | SUOX | c.907_908delinsGC (p.Ala303=) c.*95_*96delinsGC (n.*95_*96delinsGC) c.928_929delinsGC (p.Ala310=) | |
12 | g.56004297C>A | CA385289232 | SUOX | c.908C>A (p.Ala303Asp) c.*96C>A (n.*96C>A) c.929C>A (p.Ala310Asp) | |
12 | g.56004297C>G | CA385289228 | SUOX | c.908C>G (p.Ala303Gly) c.*96C>G (n.*96C>G) c.929C>G (p.Ala310Gly) | |
12 | g.56004297C>T | CA385289227 | SUOX | c.908C>T (p.Ala303Val) c.*96C>T (n.*96C>T) c.929C>T (p.Ala310Val) | |
12 | g.56004299del | CA947976930 | SUOX | c.910del (p.Gln304ArgfsTer?) c.*98del (n.*98del) c.931del (p.Gln311ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.56004298C>A | CA480366469 | SUOX | c.909C>A (p.Ala303=) c.*97C>A (n.*97C>A) c.930C>A (p.Ala310=) | |
12 | g.56004298C= | CA2038197811 | SUOX | c.909C= (p.Ala303=) c.*97C= (n.*97C=) c.930C= (p.Ala310=) | |
12 | g.56004298C>G | CA480366470 | SUOX | c.909C>G (p.Ala303=) c.*97C>G (n.*97C>G) c.930C>G (p.Ala310=) | |
12 | g.56004298C>T | CA6621063 | SUOX | c.909C>T (p.Ala303=) c.*97C>T (n.*97C>T) c.930C>T (p.Ala310=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004299C>A | CA385289237 | SUOX | c.910C>A (p.Gln304Lys) c.*98C>A (n.*98C>A) c.931C>A (p.Gln311Lys) | |
12 | g.56004299C>G | CA385289241 | SUOX | c.910C>G (p.Gln304Glu) c.*98C>G (n.*98C>G) c.931C>G (p.Gln311Glu) | |
12 | g.56004299C>T | CA385289254 | SUOX | c.910C>T (p.Gln304Ter) c.*98C>T (n.*98C>T) c.931C>T (p.Gln311Ter) | |
12 | g.56004300A>C | CA385289266 | SUOX | c.911A>C (p.Gln304Pro) c.*99A>C (n.*99A>C) c.932A>C (p.Gln311Pro) | |
12 | g.56004300A>G | CA385289271 | SUOX | c.911A>G (p.Gln304Arg) c.*99A>G (n.*99A>G) c.932A>G (p.Gln311Arg) | gnomAD v4 |
12 | g.56004300A>T | CA385289288 | SUOX | c.911A>T (p.Gln304Leu) c.*99A>T (n.*99A>T) c.932A>T (p.Gln311Leu) | |
12 | g.56004301G>A | CA480366473 | SUOX | c.912G>A (p.Gln304=) c.*100G>A (n.*100G>A) c.933G>A (p.Gln311=) | gnomAD v4 |
12 | g.56004301G>C | CA385289302 | SUOX | c.912G>C (p.Gln304His) c.*100G>C (n.*100G>C) c.933G>C (p.Gln311His) | |
12 | g.56004301G>T | CA385289304 | SUOX | c.912G>T (p.Gln304His) c.*100G>T (n.*100G>T) c.933G>T (p.Gln311His) | |
12 | g.56004302G>A | CA385289311 | SUOX | c.913G>A (p.Ala305Thr) c.*101G>A (n.*101G>A) c.934G>A (p.Ala312Thr) | ClinVar dbSNP gnomAD v4 |
12 | g.56004302G>C | CA385289317 | SUOX | c.913G>C (p.Ala305Pro) c.*101G>C (n.*101G>C) c.934G>C (p.Ala312Pro) | |
12 | g.56004302G= | CA2038197812 | SUOX | c.913G= (p.Ala305=) c.*101G= (n.*101G=) c.934G= (p.Ala312=) | |
12 | g.56004302G>T | CA385289325 | SUOX | c.913G>T (p.Ala305Ser) c.*101G>T (n.*101G>T) c.934G>T (p.Ala312Ser) | |
12 | g.56004303C>A | CA385289344 | SUOX | c.914C>A (p.Ala305Asp) c.*102C>A (n.*102C>A) c.935C>A (p.Ala312Asp) | |
12 | g.56004303C>G | CA385289333 | SUOX | c.914C>G (p.Ala305Gly) c.*102C>G (n.*102C>G) c.935C>G (p.Ala312Gly) | gnomAD v4 |
12 | g.56004303C>T | CA385289340 | SUOX | c.914C>T (p.Ala305Val) c.*102C>T (n.*102C>T) c.935C>T (p.Ala312Val) | |
12 | g.56004304T>A | CA480366478 | SUOX | c.915T>A (p.Ala305=) c.*103T>A (n.*103T>A) c.936T>A (p.Ala312=) | |
12 | g.56004304T>C | CA480366479 | SUOX | c.915T>C (p.Ala305=) c.*103T>C (n.*103T>C) c.936T>C (p.Ala312=) | |
12 | g.56004304T>G | CA480366480 | SUOX | c.915T>G (p.Ala305=) c.*103T>G (n.*103T>G) c.936T>G (p.Ala312=) | |
12 | g.56004304_56004305delinsTG | CA2038197813 | SUOX | c.915_916delinsTG (p.Ala305=) c.*103_*104delinsTG (n.*103_*104delinsTG) c.936_937delinsTG (p.Ala312=) | |
12 | g.56004305G>A | CA385289357 | SUOX | c.916G>A (p.Gly306Ser) c.*104G>A (n.*104G>A) c.937G>A (p.Gly313Ser) | |
12 | g.56004305G>C | CA385289363 | SUOX | c.916G>C (p.Gly306Arg) c.*104G>C (n.*104G>C) c.937G>C (p.Gly313Arg) | |
12 | g.56004305G>T | CA385289360 | SUOX | c.916G>T (p.Gly306Cys) c.*104G>T (n.*104G>T) c.937G>T (p.Gly313Cys) | |
12 | g.56004306del | CA605401136 | SUOX | c.917del (p.Gly306AlafsTer?) c.*105del (n.*105del) c.938del (p.Gly313AlafsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004306G>A | CA385289366 | SUOX | c.917G>A (p.Gly306Asp) c.*105G>A (n.*105G>A) c.938G>A (p.Gly313Asp) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004306G>C | CA385289376 | SUOX | c.917G>C (p.Gly306Ala) c.*105G>C (n.*105G>C) c.938G>C (p.Gly313Ala) | |
12 | g.56004306G= | CA2038197814 | SUOX | c.917G= (p.Gly306=) c.*105G= (n.*105G=) c.938G= (p.Gly313=) | |
12 | g.56004306G>T | CA385289371 | SUOX | c.917G>T (p.Gly306Val) c.*105G>T (n.*105G>T) c.938G>T (p.Gly313Val) | |
12 | g.56004307C>A | CA480366481 | SUOX | c.918C>A (p.Gly306=) c.*106C>A (n.*106C>A) c.939C>A (p.Gly313=) | |
12 | g.56004307C>G | CA480366482 | SUOX | c.918C>G (p.Gly306=) c.*106C>G (n.*106C>G) c.939C>G (p.Gly313=) | |
12 | g.56004307C>T | CA480366484 | SUOX | c.918C>T (p.Gly306=) c.*106C>T (n.*106C>T) c.939C>T (p.Gly313=) | |
12 | g.56004308C>A | CA385289381 | SUOX | c.919C>A (p.His307Asn) c.*107C>A (n.*107C>A) c.940C>A (p.His314Asn) | |
12 | g.56004308C>G | CA385289388 | SUOX | c.919C>G (p.His307Asp) c.*107C>G (n.*107C>G) c.940C>G (p.His314Asp) | |
12 | g.56004308C>T | CA385289391 | SUOX | c.919C>T (p.His307Tyr) c.*107C>T (n.*107C>T) c.940C>T (p.His314Tyr) | |
12 | g.56004309A>C | CA385289393 | SUOX | c.920A>C (p.His307Pro) c.*108A>C (n.*108A>C) c.941A>C (p.His314Pro) | |
12 | g.56004309A>G | CA385289398 | SUOX | c.920A>G (p.His307Arg) c.*108A>G (n.*108A>G) c.941A>G (p.His314Arg) | |
12 | g.56004309A>T | CA385289405 | SUOX | c.920A>T (p.His307Leu) c.*108A>T (n.*108A>T) c.941A>T (p.His314Leu) | |
12 | g.56004310C>A | CA385289424 | SUOX | c.921C>A (p.His307Gln) c.*109C>A (n.*109C>A) c.942C>A (p.His314Gln) | gnomAD v4 |
12 | g.56004310C>G | CA385289432 | SUOX | c.921C>G (p.His307Gln) c.*109C>G (n.*109C>G) c.942C>G (p.His314Gln) | |
12 | g.56004310C>T | CA480366486 | SUOX | c.921C>T (p.His307=) c.*109C>T (n.*109C>T) c.942C>T (p.His314=) | |
12 | g.56004311C>A | CA6621064 | SUOX | c.922C>A (p.Gln308Lys) c.*110C>A (n.*110C>A) c.943C>A (p.Gln315Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004311C= | CA2038197815 | SUOX | c.922C= (p.Gln308=) c.*110C= (n.*110C=) c.943C= (p.Gln315=) | |
12 | g.56004311C>G | CA385289438 | SUOX | c.922C>G (p.Gln308Glu) c.*110C>G (n.*110C>G) c.943C>G (p.Gln315Glu) | |
12 | g.56004311C>T | CA385289447 | SUOX | c.922C>T (p.Gln308Ter) c.*110C>T (n.*110C>T) c.943C>T (p.Gln315Ter) | dbSNP |
12 | g.56004312A>C | CA385289455 | SUOX | c.923A>C (p.Gln308Pro) c.*111A>C (n.*111A>C) c.944A>C (p.Gln315Pro) | |
12 | g.56004312A>G | CA385289454 | SUOX | c.923A>G (p.Gln308Arg) c.*111A>G (n.*111A>G) c.944A>G (p.Gln315Arg) | gnomAD v4 |
12 | g.56004312A>T | CA385289452 | SUOX | c.923A>T (p.Gln308Leu) c.*111A>T (n.*111A>T) c.944A>T (p.Gln315Leu) | |
12 | g.56004313A= | CA2038197816 | SUOX | c.924A= (p.Gln308=) c.*112A= (n.*112A=) c.945A= (p.Gln315=) | |
12 | g.56004313A>C | CA385289458 | SUOX | c.924A>C (p.Gln308His) c.*112A>C (n.*112A>C) c.945A>C (p.Gln315His) | |
12 | g.56004313A>G | CA480366488 | SUOX | c.924A>G (p.Gln308=) c.*112A>G (n.*112A>G) c.945A>G (p.Gln315=) | dbSNP |
12 | g.56004313A>T | CA385289462 | SUOX | c.924A>T (p.Gln308His) c.*112A>T (n.*112A>T) c.945A>T (p.Gln315His) | |
12 | g.56004314C>A | CA237605229 | SUOX | c.925C>A (p.Leu309Ile) c.*113C>A (n.*113C>A) c.946C>A (p.Leu316Ile) | dbSNP |
12 | g.56004314C= | CA2038197817 | SUOX | c.925C= (p.Leu309=) c.*113C= (n.*113C=) c.946C= (p.Leu316=) | |
12 | g.56004314C>G | CA385289480 | SUOX | c.925C>G (p.Leu309Val) c.*113C>G (n.*113C>G) c.946C>G (p.Leu316Val) | |
12 | g.56004314C>T | CA385289486 | SUOX | c.925C>T (p.Leu309Phe) c.*113C>T (n.*113C>T) c.946C>T (p.Leu316Phe) | gnomAD v4 |
12 | g.56004315T>A | CA385289501 | SUOX | c.926T>A (p.Leu309His) c.*114T>A (n.*114T>A) c.947T>A (p.Leu316His) | |
12 | g.56004315T>C | CA385289503 | SUOX | c.926T>C (p.Leu309Pro) c.*114T>C (n.*114T>C) c.947T>C (p.Leu316Pro) | |
12 | g.56004315T>G | CA385289507 | SUOX | c.926T>G (p.Leu309Arg) c.*114T>G (n.*114T>G) c.947T>G (p.Leu316Arg) | |
12 | g.56004316C>A | CA480366492 | SUOX | c.927C>A (p.Leu309=) c.*115C>A (n.*115C>A) c.948C>A (p.Leu316=) | |
12 | g.56004316C= | CA2038197819 | SUOX | c.927C= (p.Leu309=) c.*115C= (n.*115C=) c.948C= (p.Leu316=) | |
12 | g.56004316C>G | CA480366493 | SUOX | c.927C>G (p.Leu309=) c.*115C>G (n.*115C>G) c.948C>G (p.Leu316=) | |
12 | g.56004316C>T | CA480366495 | SUOX | c.927C>T (p.Leu309=) c.*115C>T (n.*115C>T) c.948C>T (p.Leu316=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004316_56004318delinsCTG | CA2038197818 | SUOX | c.927_929delinsCTG (p.Leu309=) c.*115_*117delinsCTG (n.*115_*117delinsCTG) c.948_950delinsCTG (p.Leu316=) | |
12 | g.56004317T>A | CA385289510 | SUOX | c.928T>A (p.Cys310Ser) c.*116T>A (n.*116T>A) c.949T>A (p.Cys317Ser) | |
12 | g.56004317T>C | CA385289511 | SUOX | c.928T>C (p.Cys310Arg) c.*116T>C (n.*116T>C) c.949T>C (p.Cys317Arg) | gnomAD v4 |
12 | g.56004317T>G | CA385289518 | SUOX | c.928T>G (p.Cys310Gly) c.*116T>G (n.*116T>G) c.949T>G (p.Cys317Gly) | |
12 | g.56004319_56004320del | CA237605230 | SUOX | c.930_931del (p.Cys310Ter) c.*118_*119del (n.*118_*119del) c.951_952del (p.Cys317Ter) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004318G>A | CA385289542 | SUOX | c.929G>A (p.Cys310Tyr) c.*117G>A (n.*117G>A) c.950G>A (p.Cys317Tyr) | dbSNP |
12 | g.56004318G>C | CA237605231 | SUOX | c.929G>C (p.Cys310Ser) c.*117G>C (n.*117G>C) c.950G>C (p.Cys317Ser) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.56004318G= | CA2038197820 | SUOX | c.929G= (p.Cys310=) c.*117G= (n.*117G=) c.950G= (p.Cys317=) | |
12 | g.56004318G>T | CA385289533 | SUOX | c.929G>T (p.Cys310Phe) c.*117G>T (n.*117G>T) c.950G>T (p.Cys317Phe) | |
12 | g.56004319T>A | CA385289544 | SUOX | c.930T>A (p.Cys310Ter) c.*118T>A (n.*118T>A) c.951T>A (p.Cys317Ter) | |
12 | g.56004319T>C | CA480366499 | SUOX | c.930T>C (p.Cys310=) c.*118T>C (n.*118T>C) c.951T>C (p.Cys317=) | |
12 | g.56004319T>G | CA385289546 | SUOX | c.930T>G (p.Cys310Trp) c.*118T>G (n.*118T>G) c.951T>G (p.Cys317Trp) | |
12 | g.56004320G>A | CA6621065 | SUOX | c.931G>A (p.Glu311Lys) c.*119G>A (n.*119G>A) c.952G>A (p.Glu318Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004320G>C | CA385289554 | SUOX | c.931G>C (p.Glu311Gln) c.*119G>C (n.*119G>C) c.952G>C (p.Glu318Gln) | |
12 | g.56004320G= | CA2038197821 | SUOX | c.931G= (p.Glu311=) c.*119G= (n.*119G=) c.952G= (p.Glu318=) | |
12 | g.56004320G>T | CA385289559 | SUOX | c.931G>T (p.Glu311Ter) c.*119G>T (n.*119G>T) c.952G>T (p.Glu318Ter) | |
12 | g.56004321A>C | CA385289560 | SUOX | c.932A>C (p.Glu311Ala) c.*120A>C (n.*120A>C) c.953A>C (p.Glu318Ala) | |
12 | g.56004321A>G | CA385289561 | SUOX | c.932A>G (p.Glu311Gly) c.*120A>G (n.*120A>G) c.953A>G (p.Glu318Gly) | |
12 | g.56004321A>T | CA385289562 | SUOX | c.932A>T (p.Glu311Val) c.*120A>T (n.*120A>T) c.953A>T (p.Glu318Val) | |
12 | g.56004322A>C | CA385289564 | SUOX | c.933A>C (p.Glu311Asp) c.*121A>C (n.*121A>C) c.954A>C (p.Glu318Asp) | |
12 | g.56004322A>G | CA480366505 | SUOX | c.933A>G (p.Glu311=) c.*121A>G (n.*121A>G) c.954A>G (p.Glu318=) | |
12 | g.56004322A>T | CA385289565 | SUOX | c.933A>T (p.Glu311Asp) c.*121A>T (n.*121A>T) c.954A>T (p.Glu318Asp) | |
12 | g.56004323A>C | CA385289571 | SUOX | c.934A>C (p.Thr312Pro) c.*122A>C (n.*122A>C) c.955A>C (p.Thr319Pro) | |
12 | g.56004323A>G | CA385289582 | SUOX | c.934A>G (p.Thr312Ala) c.*122A>G (n.*122A>G) c.955A>G (p.Thr319Ala) | |
12 | g.56004323A>T | CA385289589 | SUOX | c.934A>T (p.Thr312Ser) c.*122A>T (n.*122A>T) c.955A>T (p.Thr319Ser) | |
12 | g.56004324C>A | CA385289596 | SUOX | c.935C>A (p.Thr312Asn) c.*123C>A (n.*123C>A) c.956C>A (p.Thr319Asn) | |
12 | g.56004324C= | CA2038197823 | SUOX | c.935C= (p.Thr312=) c.*123C= (n.*123C=) c.956C= (p.Thr319=) | |
12 | g.56004324C>G | CA385289599 | SUOX | c.935C>G (p.Thr312Ser) c.*123C>G (n.*123C>G) c.956C>G (p.Thr319Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004324C>T | CA385289597 | SUOX | c.935C>T (p.Thr312Ile) c.*123C>T (n.*123C>T) c.956C>T (p.Thr319Ile) | gnomAD v4 |
12 | g.56004324_56004326delinsCTG | CA2038197822 | SUOX | c.935_937delinsCTG (p.Thr312=) c.*123_*125delinsCTG (n.*123_*125delinsCTG) c.956_958delinsCTG (p.Thr319=) | |
12 | g.56004325T>A | CA480366514 | SUOX | c.936T>A (p.Thr312=) c.*124T>A (n.*124T>A) c.957T>A (p.Thr319=) | |
12 | g.56004325T>C | CA480366513 | SUOX | c.936T>C (p.Thr312=) c.*124T>C (n.*124T>C) c.957T>C (p.Thr319=) | |
12 | g.56004325T>G | CA480366511 | SUOX | c.936T>G (p.Thr312=) c.*124T>G (n.*124T>G) c.957T>G (p.Thr319=) | |
12 | g.56004325_56004326del | CA919094429 | SUOX | c.936_937del (p.Glu313GlyfsTer6) c.*124_*125del (n.*124_*125del) c.957_958del (p.Glu320GlyfsTer6) | dbSNP gnomAD v4 |
12 | g.56004326G>A | CA385289604 | SUOX | c.937G>A (p.Glu313Lys) c.*125G>A (n.*125G>A) c.958G>A (p.Glu320Lys) | |
12 | g.56004326G>C | CA385289611 | SUOX | c.937G>C (p.Glu313Gln) c.*125G>C (n.*125G>C) c.958G>C (p.Glu320Gln) | gnomAD v4 |
12 | g.56004326G>T | CA385289614 | SUOX | c.937G>T (p.Glu313Ter) c.*125G>T (n.*125G>T) c.958G>T (p.Glu320Ter) | gnomAD v4 |
12 | g.56004327A>C | CA385289616 | SUOX | c.938A>C (p.Glu313Ala) c.*126A>C (n.*126A>C) c.959A>C (p.Glu320Ala) | |
12 | g.56004327A>G | CA385289621 | SUOX | c.938A>G (p.Glu313Gly) c.*126A>G (n.*126A>G) c.959A>G (p.Glu320Gly) | |
12 | g.56004327A>T | CA385289627 | SUOX | c.938A>T (p.Glu313Val) c.*126A>T (n.*126A>T) c.959A>T (p.Glu320Val) | |
12 | g.56004328G>A | CA480366517 | SUOX | c.939G>A (p.Glu313=) c.*127G>A (n.*127G>A) c.960G>A (p.Glu320=) | gnomAD v4 |
12 | g.56004328G>C | CA385289633 | SUOX | c.939G>C (p.Glu313Asp) c.*127G>C (n.*127G>C) c.960G>C (p.Glu320Asp) | gnomAD v4 |
12 | g.56004328G>T | CA385289642 | SUOX | c.939G>T (p.Glu313Asp) c.*127G>T (n.*127G>T) c.960G>T (p.Glu320Asp) | |
12 | g.56004329G>A | CA385289650 | SUOX | c.940G>A (p.Ala314Thr) c.*128G>A (n.*128G>A) c.961G>A (p.Ala321Thr) | |
12 | g.56004329G>C | CA385289654 | SUOX | c.940G>C (p.Ala314Pro) c.*128G>C (n.*128G>C) c.961G>C (p.Ala321Pro) | |
12 | g.56004329G>T | CA385289659 | SUOX | c.940G>T (p.Ala314Ser) c.*128G>T (n.*128G>T) c.961G>T (p.Ala321Ser) | COSMIC |
12 | g.56004330C>A | CA385289702 | SUOX | c.941C>A (p.Ala314Asp) c.*129C>A (n.*129C>A) c.962C>A (p.Ala321Asp) | |
12 | g.56004330C= | CA2038197824 | SUOX | c.941C= (p.Ala314=) c.*129C= (n.*129C=) c.962C= (p.Ala321=) | |
12 | g.56004330C>G | CA385289675 | SUOX | c.941C>G (p.Ala314Gly) c.*129C>G (n.*129C>G) c.962C>G (p.Ala321Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.56004330C>T | CA385289669 | SUOX | c.941C>T (p.Ala314Val) c.*129C>T (n.*129C>T) c.962C>T (p.Ala321Val) | |
12 | g.56004331C>A | CA480366520 | SUOX | c.942C>A (p.Ala314=) c.*130C>A (n.*130C>A) c.963C>A (p.Ala321=) | |
12 | g.56004331C>G | CA480366521 | SUOX | c.942C>G (p.Ala314=) c.*130C>G (n.*130C>G) c.963C>G (p.Ala321=) | |
12 | g.56004331C>T | CA480366522 | SUOX | c.942C>T (p.Ala314=) c.*130C>T (n.*130C>T) c.963C>T (p.Ala321=) | |
12 | g.56004332C>A | CA385289718 | SUOX | c.943C>A (p.His315Asn) c.*131C>A (n.*131C>A) c.964C>A (p.His322Asn) | gnomAD v4 |
12 | g.56004332C>G | CA385289710 | SUOX | c.943C>G (p.His315Asp) c.*131C>G (n.*131C>G) c.964C>G (p.His322Asp) | |
12 | g.56004332C>T | CA385289715 | SUOX | c.943C>T (p.His315Tyr) c.*131C>T (n.*131C>T) c.964C>T (p.His322Tyr) | |
12 | g.56004333A= | CA2038197825 | SUOX | c.944A= (p.His315=) c.*132A= (n.*132A=) c.965A= (p.His322=) | |
12 | g.56004333A>C | CA6621066 | SUOX | c.944A>C (p.His315Pro) c.*132A>C (n.*132A>C) c.965A>C (p.His322Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004333A>G | CA385289724 | SUOX | c.944A>G (p.His315Arg) c.*132A>G (n.*132A>G) c.965A>G (p.His322Arg) | |
12 | g.56004333A>T | CA385289730 | SUOX | c.944A>T (p.His315Leu) c.*132A>T (n.*132A>T) c.965A>T (p.His322Leu) | |
12 | g.56004334C>A | CA385289740 | SUOX | c.945C>A (p.His315Gln) c.*133C>A (n.*133C>A) c.966C>A (p.His322Gln) | |
12 | g.56004334C= | CA2038197826 | SUOX | c.945C= (p.His315=) c.*133C= (n.*133C=) c.966C= (p.His322=) | |
12 | g.56004334C>G | CA385289739 | SUOX | c.945C>G (p.His315Gln) c.*133C>G (n.*133C>G) c.966C>G (p.His322Gln) | dbSNP gnomAD v4 |
12 | g.56004334C>T | CA6621067 | SUOX | c.945C>T (p.His315=) c.*133C>T (n.*133C>T) c.966C>T (p.His322=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.56004335G>A | CA6621068 | SUOX | c.946G>A (p.Val316Ile) c.*134G>A (n.*134G>A) c.967G>A (p.Val323Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.56004335G>C | CA385289753 | SUOX | c.946G>C (p.Val316Leu) c.*134G>C (n.*134G>C) c.967G>C (p.Val323Leu) | |
12 | g.56004335G= | CA2038197827 | SUOX | c.946G= (p.Val316=) c.*134G= (n.*134G=) c.967G= (p.Val323=) | |
12 | g.56004335G>T | CA385289770 | SUOX | c.946G>T (p.Val316Phe) c.*134G>T (n.*134G>T) c.967G>T (p.Val323Phe) | |
12 | g.56004336T>A | CA385289774 | SUOX | c.947T>A (p.Val316Asp) c.*135T>A (n.*135T>A) c.968T>A (p.Val323Asp) | |
12 | g.56004336T>C | CA385289775 | SUOX | c.947T>C (p.Val316Ala) c.*135T>C (n.*135T>C) c.968T>C (p.Val323Ala) | |
12 | g.56004336T>G | CA385289776 | SUOX | c.947T>G (p.Val316Gly) c.*135T>G (n.*135T>G) c.968T>G (p.Val323Gly) | |
12 | g.56004337C>A | CA480366158 | SUOX | c.948C>A (p.Val316=) c.*136C>A (n.*136C>A) c.969C>A (p.Val323=) | |
12 | g.56004337C= | CA2038197828 | SUOX | c.948C= (p.Val316=) c.*136C= (n.*136C=) c.969C= (p.Val323=) | |
12 | g.56004337C>G | CA237605236 | SUOX | c.948C>G (p.Val316=) c.*136C>G (n.*136C>G) c.969C>G (p.Val323=) | ClinVar dbSNP |
12 | g.56004337C>T | CA480366159 | SUOX | c.948C>T (p.Val316=) c.*136C>T (n.*136C>T) c.969C>T (p.Val323=) | gnomAD v4 |
12 | g.56004338T>A | CA385289785 | SUOX | c.949T>A (p.Cys317Ser) c.*137T>A (n.*137T>A) c.970T>A (p.Cys324Ser) | |
12 | g.56004338T>C | CA385289778 | SUOX | c.949T>C (p.Cys317Arg) c.*137T>C (n.*137T>C) c.970T>C (p.Cys324Arg) | |
12 | g.56004338T>G | CA385289782 | SUOX | c.949T>G (p.Cys317Gly) c.*137T>G (n.*137T>G) c.970T>G (p.Cys324Gly) | |
12 | g.56004339G>A | CA385289795 | SUOX | c.950G>A (p.Cys317Tyr) c.*138G>A (n.*138G>A) c.971G>A (p.Cys324Tyr) | |
12 | g.56004339G>C | CA385289797 | SUOX | c.950G>C (p.Cys317Ser) c.*138G>C (n.*138G>C) c.971G>C (p.Cys324Ser) | |
12 | g.56004339G= | CA2038197829 | SUOX | c.950G= (p.Cys317=) c.*138G= (n.*138G=) c.971G= (p.Cys324=) | |
12 | g.56004339G>T | CA6621069 | SUOX | c.950G>T (p.Cys317Phe) c.*138G>T (n.*138G>T) c.971G>T (p.Cys324Phe) | ClinVar dbSNP ExAC |
12 | g.56004340C>A | CA385289802 | SUOX | c.951C>A (p.Cys317Ter) c.*139C>A (n.*139C>A) c.972C>A (p.Cys324Ter) | |
12 | g.56004340C= | CA2038197830 | SUOX | c.951C= (p.Cys317=) c.*139C= (n.*139C=) c.972C= (p.Cys324=) | |
12 | g.56004340C>G | CA385289805 | SUOX | c.951C>G (p.Cys317Trp) c.*139C>G (n.*139C>G) c.972C>G (p.Cys324Trp) | |
12 | g.56004340C>T | CA480366160 | SUOX | c.951C>T (p.Cys317=) c.*139C>T (n.*139C>T) c.972C>T (p.Cys324=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004341T>A | CA385289809 | SUOX | c.952T>A (p.Phe318Ile) c.*140T>A (n.*140T>A) c.973T>A (p.Phe325Ile) | gnomAD v4 |
12 | g.56004341T>C | CA385289810 | SUOX | c.952T>C (p.Phe318Leu) c.*140T>C (n.*140T>C) c.973T>C (p.Phe325Leu) | |
12 | g.56004341T>G | CA385289811 | SUOX | c.952T>G (p.Phe318Val) c.*140T>G (n.*140T>G) c.973T>G (p.Phe325Val) | |
12 | g.56004342T>A | CA385289812 | SUOX | c.953T>A (p.Phe318Tyr) c.*141T>A (n.*141T>A) c.974T>A (p.Phe325Tyr) | |
12 | g.56004342T>C | CA385289814 | SUOX | c.953T>C (p.Phe318Ser) c.*141T>C (n.*141T>C) c.974T>C (p.Phe325Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004342T>G | CA385289816 | SUOX | c.953T>G (p.Phe318Cys) c.*141T>G (n.*141T>G) c.974T>G (p.Phe325Cys) | |
12 | g.56004342T= | CA2038197831 | SUOX | c.953T= (p.Phe318=) c.*141T= (n.*141T=) c.974T= (p.Phe325=) | |
12 | g.56004343T>A | CA385289820 | SUOX | c.954T>A (p.Phe318Leu) c.*142T>A (n.*142T>A) c.975T>A (p.Phe325Leu) | |
12 | g.56004343T>C | CA480366162 | SUOX | c.954T>C (p.Phe318=) c.*142T>C (n.*142T>C) c.975T>C (p.Phe325=) | |
12 | g.56004343T>G | CA385289847 | SUOX | c.954T>G (p.Phe318Leu) c.*142T>G (n.*142T>G) c.975T>G (p.Phe325Leu) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.56004343T= | CA2038197832 | SUOX | c.954T= (p.Phe318=) c.*142T= (n.*142T=) c.975T= (p.Phe325=) | |
12 | g.56004344G>A | CA385289859 | SUOX | c.955G>A (p.Glu319Lys) c.*143G>A (n.*143G>A) c.976G>A (p.Glu326Lys) | |
12 | g.56004344G>C | CA237605238 | SUOX | c.955G>C (p.Glu319Gln) c.*143G>C (n.*143G>C) c.976G>C (p.Glu326Gln) | dbSNP COSMIC |
12 | g.56004344G= | CA2038197833 | SUOX | c.955G= (p.Glu319=) c.*143G= (n.*143G=) c.976G= (p.Glu326=) | |
12 | g.56004344G>T | CA385289865 | SUOX | c.955G>T (p.Glu319Ter) c.*143G>T (n.*143G>T) c.976G>T (p.Glu326Ter) | |
12 | g.56004345A= | CA2038197834 | SUOX | c.956A= (p.Glu319=) c.*144A= (n.*144A=) c.977A= (p.Glu326=) | |
12 | g.56004345A>C | CA385289878 | SUOX | c.956A>C (p.Glu319Ala) c.*144A>C (n.*144A>C) c.977A>C (p.Glu326Ala) | |
12 | g.56004345A>G | CA385289897 | SUOX | c.956A>G (p.Glu319Gly) c.*144A>G (n.*144A>G) c.977A>G (p.Glu326Gly) | |
12 | g.56004345A>T | CA385289944 | SUOX | c.956A>T (p.Glu319Val) c.*144A>T (n.*144A>T) c.977A>T (p.Glu326Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004346G>A | CA480366166 | SUOX | c.957G>A (p.Glu319=) c.*145G>A (n.*145G>A) c.978G>A (p.Glu326=) | |
12 | g.56004346G>C | CA385289949 | SUOX | c.957G>C (p.Glu319Asp) c.*145G>C (n.*145G>C) c.978G>C (p.Glu326Asp) | |
12 | g.56004346G>T | CA385289950 | SUOX | c.957G>T (p.Glu319Asp) c.*145G>T (n.*145G>T) c.978G>T (p.Glu326Asp) | |
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 |