Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.37805024_37805036del | CA2695233199 | CYBB | c.*679_*691del (n.*679_*691del) c.1074_1086del (p.Phe359ValfsTer10) c.1170_1182del (p.Phe391ValfsTer10) c.171+379024_171+379036del (n.171+379024_171+379036del) c.864_876del (p.Phe289ValfsTer10) | |
X | g.37805028G>A | CA412977650 | CYBB | c.*683G>A (n.*683G>A) c.1078G>A (p.Gly360Ser) c.1174G>A (p.Gly392Ser) c.171+379028G>A (n.171+379028G>A) c.868G>A (p.Gly290Ser) | |
X | g.37805028G>C | CA412977651 | CYBB | c.*683G>C (n.*683G>C) c.1078G>C (p.Gly360Arg) c.1174G>C (p.Gly392Arg) c.171+379028G>C (n.171+379028G>C) c.868G>C (p.Gly290Arg) | |
X | g.37805028G>T | CA412977652 | CYBB | c.*683G>T (n.*683G>T) c.1078G>T (p.Gly360Cys) c.1174G>T (p.Gly392Cys) c.171+379028G>T (n.171+379028G>T) c.868G>T (p.Gly290Cys) | |
X | g.37805029G>A | CA412977653 | CYBB | c.*684G>A (n.*684G>A) c.1079G>A (p.Gly360Asp) c.1175G>A (p.Gly392Asp) c.171+379029G>A (n.171+379029G>A) c.869G>A (p.Gly290Asp) | COSMIC |
X | g.37805029G>C | CA412977654 | CYBB | c.*684G>C (n.*684G>C) c.1079G>C (p.Gly360Ala) c.1175G>C (p.Gly392Ala) c.171+379029G>C (n.171+379029G>C) c.869G>C (p.Gly290Ala) | |
X | g.37805029G>T | CA412977655 | CYBB | c.*684G>T (n.*684G>T) c.1079G>T (p.Gly360Val) c.1175G>T (p.Gly392Val) c.171+379029G>T (n.171+379029G>T) c.869G>T (p.Gly290Val) | |
X | g.37805030C>A | CA515677371 | CYBB | c.*685C>A (n.*685C>A) c.1080C>A (p.Gly360=) c.1176C>A (p.Gly392=) c.171+379030C>A (n.171+379030C>A) c.870C>A (p.Gly290=) | |
X | g.37805030C>G | CA515677373 | CYBB | c.*685C>G (n.*685C>G) c.1080C>G (p.Gly360=) c.1176C>G (p.Gly392=) c.171+379030C>G (n.171+379030C>G) c.870C>G (p.Gly290=) | |
X | g.37805030C>T | CA515677376 | CYBB | c.*685C>T (n.*685C>T) c.1080C>T (p.Gly360=) c.1176C>T (p.Gly392=) c.171+379030C>T (n.171+379030C>T) c.870C>T (p.Gly290=) | gnomAD v4 |
X | g.37805031del | CA2695233201 | CYBB | c.*686del (n.*686del) c.1081del (p.Thr361LeufsTer12) c.1177del (p.Thr393LeufsTer12) c.171+379031del (n.171+379031del) c.871del (p.Thr291LeufsTer12) | |
X | g.37805031A>C | CA412977656 | CYBB | c.*686A>C (n.*686A>C) c.1081A>C (p.Thr361Pro) c.1177A>C (p.Thr393Pro) c.171+379031A>C (n.171+379031A>C) c.871A>C (p.Thr291Pro) | |
X | g.37805031A>G | CA412977657 | CYBB | c.*686A>G (n.*686A>G) c.1081A>G (p.Thr361Ala) c.1177A>G (p.Thr393Ala) c.171+379031A>G (n.171+379031A>G) c.871A>G (p.Thr291Ala) | |
X | g.37805031A>T | CA412977658 | CYBB | c.*686A>T (n.*686A>T) c.1081A>T (p.Thr361Ser) c.1177A>T (p.Thr393Ser) c.171+379031A>T (n.171+379031A>T) c.871A>T (p.Thr291Ser) | |
X | g.37805032C>A | CA412977659 | CYBB | c.*687C>A (n.*687C>A) c.1082C>A (p.Thr361Asn) c.1178C>A (p.Thr393Asn) c.171+379032C>A (n.171+379032C>A) c.872C>A (p.Thr291Asn) | |
X | g.37805032C>G | CA412977660 | CYBB | c.*687C>G (n.*687C>G) c.1082C>G (p.Thr361Ser) c.1178C>G (p.Thr393Ser) c.171+379032C>G (n.171+379032C>G) c.872C>G (p.Thr291Ser) | |
X | g.37805032C>T | CA412977661 | CYBB | c.*687C>T (n.*687C>T) c.1082C>T (p.Thr361Ile) c.1178C>T (p.Thr393Ile) c.171+379032C>T (n.171+379032C>T) c.872C>T (p.Thr291Ile) | |
X | g.37805033T>A | CA515677390 | CYBB | c.*688T>A (n.*688T>A) c.1083T>A (p.Thr361=) c.1179T>A (p.Thr393=) c.171+379033T>A (n.171+379033T>A) c.873T>A (p.Thr291=) | |
X | g.37805033T>C | CA515677391 | CYBB | c.*688T>C (n.*688T>C) c.1083T>C (p.Thr361=) c.1179T>C (p.Thr393=) c.171+379033T>C (n.171+379033T>C) c.873T>C (p.Thr291=) | |
X | g.37805033T>G | CA515677394 | CYBB | c.*688T>G (n.*688T>G) c.1083T>G (p.Thr361=) c.1179T>G (p.Thr393=) c.171+379033T>G (n.171+379033T>G) c.873T>G (p.Thr291=) | |
X | g.37805034G>A | CA412977664 | CYBB | c.*689G>A (n.*689G>A) c.1084G>A (p.Ala362Thr) c.1180G>A (p.Ala394Thr) c.171+379034G>A (n.171+379034G>A) c.874G>A (p.Ala292Thr) | |
X | g.37805034G>C | CA412977662 | CYBB | c.*689G>C (n.*689G>C) c.1084G>C (p.Ala362Pro) c.1180G>C (p.Ala394Pro) c.171+379034G>C (n.171+379034G>C) c.874G>C (p.Ala292Pro) | |
X | g.37805034G>T | CA412977663 | CYBB | c.*689G>T (n.*689G>T) c.1084G>T (p.Ala362Ser) c.1180G>T (p.Ala394Ser) c.171+379034G>T (n.171+379034G>T) c.874G>T (p.Ala292Ser) | gnomAD v4 |
X | g.37805034_37805036delinsATGTGATGAACACAT | CA2695233202 | CYBB | c.*689_*691delinsATGTGATGAACACAT (n.*689_*691delinsATGTGATGAACACAT) c.1084_1086delinsATGTGATGAACACAT (p.Ala362MetfsTer2) c.1180_1182delinsATGTGATGAACACAT (p.Ala394MetfsTer2) c.171+379034_171+379036delinsATGTGATGAACACAT (n.171+379034_171+379036delinsATGTGATGAACACAT) c.874_876delinsATGTGATGAACACAT (p.Ala292MetfsTer2) | |
X | g.37805035C>A | CA412977665 | CYBB | c.*690C>A (n.*690C>A) c.1085C>A (p.Ala362Asp) c.1181C>A (p.Ala394Asp) c.171+379035C>A (n.171+379035C>A) c.875C>A (p.Ala292Asp) | |
X | g.37805035C= | CA2424683357 | CYBB | c.*690C= (n.*690C=) c.1085C= (p.Ala362=) c.1181C= (p.Ala394=) c.171+379035C= (n.171+379035C=) c.875C= (p.Ala292=) | |
X | g.37805035C>G | CA412977666 | CYBB | c.*690C>G (n.*690C>G) c.1085C>G (p.Ala362Gly) c.1181C>G (p.Ala394Gly) c.171+379035C>G (n.171+379035C>G) c.875C>G (p.Ala292Gly) | |
X | g.37805035C>T | CA412977667 | CYBB | c.*690C>T (n.*690C>T) c.1085C>T (p.Ala362Val) c.1181C>T (p.Ala394Val) c.171+379035C>T (n.171+379035C>T) c.875C>T (p.Ala292Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.37805036C>A | CA515677415 | CYBB | c.*691C>A (n.*691C>A) c.1086C>A (p.Ala362=) c.1182C>A (p.Ala394=) c.171+379036C>A (n.171+379036C>A) c.876C>A (p.Ala292=) | |
X | g.37805036C>G | CA515677413 | CYBB | c.*691C>G (n.*691C>G) c.1086C>G (p.Ala362=) c.1182C>G (p.Ala394=) c.171+379036C>G (n.171+379036C>G) c.876C>G (p.Ala292=) | |
X | g.37805036C>T | CA515677411 | CYBB | c.*691C>T (n.*691C>T) c.1086C>T (p.Ala362=) c.1182C>T (p.Ala394=) c.171+379036C>T (n.171+379036C>T) c.876C>T (p.Ala292=) | |
X | g.37805037A>C | CA412977668 | CYBB | c.*692A>C (n.*692A>C) c.1087A>C (p.Ser363Arg) c.1183A>C (p.Ser395Arg) c.171+379037A>C (n.171+379037A>C) c.877A>C (p.Ser293Arg) | |
X | g.37805037A>G | CA412977669 | CYBB | c.*692A>G (n.*692A>G) c.1087A>G (p.Ser363Gly) c.1183A>G (p.Ser395Gly) c.171+379037A>G (n.171+379037A>G) c.877A>G (p.Ser293Gly) | |
X | g.37805037A>T | CA412977670 | CYBB | c.*692A>T (n.*692A>T) c.1087A>T (p.Ser363Cys) c.1183A>T (p.Ser395Cys) c.171+379037A>T (n.171+379037A>T) c.877A>T (p.Ser293Cys) | |
X | g.37805038G>A | CA412977671 | CYBB | c.*693G>A (n.*693G>A) c.1088G>A (p.Ser363Asn) c.1184G>A (p.Ser395Asn) c.171+379038G>A (n.171+379038G>A) c.878G>A (p.Ser293Asn) | |
X | g.37805038G>C | CA412977672 | CYBB | c.*693G>C (n.*693G>C) c.1088G>C (p.Ser363Thr) c.1184G>C (p.Ser395Thr) c.171+379038G>C (n.171+379038G>C) c.878G>C (p.Ser293Thr) | dbSNP gnomAD v4 |
X | g.37805038G= | CA2424683358 | CYBB | c.*693G= (n.*693G=) c.1088G= (p.Ser363=) c.1184G= (p.Ser395=) c.171+379038G= (n.171+379038G=) c.878G= (p.Ser293=) | |
X | g.37805038G>T | CA412977673 | CYBB | c.*693G>T (n.*693G>T) c.1088G>T (p.Ser363Ile) c.1184G>T (p.Ser395Ile) c.171+379038G>T (n.171+379038G>T) c.878G>T (p.Ser293Ile) | |
X | g.37805040_37805049del | CA2695233203 | CYBB | c.*695_*704del (n.*695_*704del) c.1090_1099del (p.Glu364SerfsTer6) c.1186_1195del (p.Glu396SerfsTer6) c.171+379040_171+379049del (n.171+379040_171+379049del) c.880_889del (p.Glu294SerfsTer6) | |
X | g.37805039T>A | CA412977674 | CYBB | c.*694T>A (n.*694T>A) c.1089T>A (p.Ser363Arg) c.1185T>A (p.Ser395Arg) c.171+379039T>A (n.171+379039T>A) c.879T>A (p.Ser293Arg) | |
X | g.37805039T>C | CA515677429 | CYBB | c.*694T>C (n.*694T>C) c.1089T>C (p.Ser363=) c.1185T>C (p.Ser395=) c.171+379039T>C (n.171+379039T>C) c.879T>C (p.Ser293=) | ClinVar dbSNP |
X | g.37805039T>G | CA412977675 | CYBB | c.*694T>G (n.*694T>G) c.1089T>G (p.Ser363Arg) c.1185T>G (p.Ser395Arg) c.171+379039T>G (n.171+379039T>G) c.879T>G (p.Ser293Arg) | |
X | g.37805040G>A | CA412977678 | CYBB | c.*695G>A (n.*695G>A) c.1090G>A (p.Glu364Lys) c.1186G>A (p.Glu396Lys) c.171+379040G>A (n.171+379040G>A) c.880G>A (p.Glu294Lys) | COSMIC |
X | g.37805040G>C | CA412977677 | CYBB | c.*695G>C (n.*695G>C) c.1090G>C (p.Glu364Gln) c.1186G>C (p.Glu396Gln) c.171+379040G>C (n.171+379040G>C) c.880G>C (p.Glu294Gln) | |
X | g.37805040G>T | CA412977676 | CYBB | c.*695G>T (n.*695G>T) c.1090G>T (p.Glu364Ter) c.1186G>T (p.Glu396Ter) c.171+379040G>T (n.171+379040G>T) c.880G>T (p.Glu294Ter) | |
X | g.37805041A>C | CA412977679 | CYBB | c.*696A>C (n.*696A>C) c.1091A>C (p.Glu364Ala) c.1187A>C (p.Glu396Ala) c.171+379041A>C (n.171+379041A>C) c.881A>C (p.Glu294Ala) | |
X | g.37805041A>G | CA412977680 | CYBB | c.*696A>G (n.*696A>G) c.1091A>G (p.Glu364Gly) c.1187A>G (p.Glu396Gly) c.171+379041A>G (n.171+379041A>G) c.881A>G (p.Glu294Gly) | |
X | g.37805041A>T | CA412977681 | CYBB | c.*696A>T (n.*696A>T) c.1091A>T (p.Glu364Val) c.1187A>T (p.Glu396Val) c.171+379041A>T (n.171+379041A>T) c.881A>T (p.Glu294Val) | |
X | g.37805042A>C | CA412977682 | CYBB | c.*697A>C (n.*697A>C) c.1092A>C (p.Glu364Asp) c.1188A>C (p.Glu396Asp) c.171+379042A>C (n.171+379042A>C) c.882A>C (p.Glu294Asp) | gnomAD v4 |
X | g.37805042A>G | CA515677447 | CYBB | c.*697A>G (n.*697A>G) c.1092A>G (p.Glu364=) c.1188A>G (p.Glu396=) c.171+379042A>G (n.171+379042A>G) c.882A>G (p.Glu294=) | |
X | g.37805042A>T | CA412977683 | CYBB | c.*697A>T (n.*697A>T) c.1092A>T (p.Glu364Asp) c.1188A>T (p.Glu396Asp) c.171+379042A>T (n.171+379042A>T) c.882A>T (p.Glu294Asp) | |
X | g.37805043G>A | CA412977684 | CYBB | c.*698G>A (n.*698G>A) c.1093G>A (p.Asp365Asn) c.1189G>A (p.Asp397Asn) c.171+379043G>A (n.171+379043G>A) c.883G>A (p.Asp295Asn) | |
X | g.37805043G>C | CA412977685 | CYBB | c.*698G>C (n.*698G>C) c.1093G>C (p.Asp365His) c.1189G>C (p.Asp397His) c.171+379043G>C (n.171+379043G>C) c.883G>C (p.Asp295His) | |
X | g.37805043G= | CA2424683359 | CYBB | c.*698G= (n.*698G=) c.1093G= (p.Asp365=) c.1189G= (p.Asp397=) c.171+379043G= (n.171+379043G=) c.883G= (p.Asp295=) | |
X | g.37805043G>T | CA412977686 | CYBB | c.*698G>T (n.*698G>T) c.1093G>T (p.Asp365Tyr) c.1189G>T (p.Asp397Tyr) c.171+379043G>T (n.171+379043G>T) c.883G>T (p.Asp295Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.37805044_37805061del | CA2579582881 | CYBB | c.*699_*716del (n.*699_*716del) c.1094_1111del (p.Asp365_Glu370del) c.1190_1207del (p.Asp397_Glu402del) c.171+379044_171+379061del (n.171+379044_171+379061del) c.884_901del (p.Asp295_Glu300del) | |
X | g.37805044A>C | CA412977687 | CYBB | c.*699A>C (n.*699A>C) c.1094A>C (p.Asp365Ala) c.1190A>C (p.Asp397Ala) c.171+379044A>C (n.171+379044A>C) c.884A>C (p.Asp295Ala) | |
X | g.37805044A>G | CA412977688 | CYBB | c.*699A>G (n.*699A>G) c.1094A>G (p.Asp365Gly) c.1190A>G (p.Asp397Gly) c.171+379044A>G (n.171+379044A>G) c.884A>G (p.Asp295Gly) | |
X | g.37805044A>T | CA412977689 | CYBB | c.*699A>T (n.*699A>T) c.1094A>T (p.Asp365Val) c.1190A>T (p.Asp397Val) c.171+379044A>T (n.171+379044A>T) c.884A>T (p.Asp295Val) | |
X | g.37805044_37805045del | CA2695233204 | CYBB | c.*699_*700del (n.*699_*700del) c.1094_1095del (p.Asp365GlyfsTer5) c.1190_1191del (p.Asp397GlyfsTer5) c.171+379044_171+379045del (n.171+379044_171+379045del) c.884_885del (p.Asp295GlyfsTer5) | |
X | g.37805045T>A | CA412977690 | CYBB | c.*700T>A (n.*700T>A) c.1095T>A (p.Asp365Glu) c.1191T>A (p.Asp397Glu) c.171+379045T>A (n.171+379045T>A) c.885T>A (p.Asp295Glu) | gnomAD v4 |
X | g.37805045T>C | CA515677459 | CYBB | c.*700T>C (n.*700T>C) c.1095T>C (p.Asp365=) c.1191T>C (p.Asp397=) c.171+379045T>C (n.171+379045T>C) c.885T>C (p.Asp295=) | |
X | g.37805045T>G | CA412977691 | CYBB | c.*700T>G (n.*700T>G) c.1095T>G (p.Asp365Glu) c.1191T>G (p.Asp397Glu) c.171+379045T>G (n.171+379045T>G) c.885T>G (p.Asp295Glu) | |
X | g.37805046G>A | CA412977694 | CYBB | c.*701G>A (n.*701G>A) c.1096G>A (p.Val366Met) c.1192G>A (p.Val398Met) c.171+379046G>A (n.171+379046G>A) c.886G>A (p.Val296Met) | |
X | g.37805046G>C | CA412977692 | CYBB | c.*701G>C (n.*701G>C) c.1096G>C (p.Val366Leu) c.1192G>C (p.Val398Leu) c.171+379046G>C (n.171+379046G>C) c.886G>C (p.Val296Leu) | |
X | g.37805046G>T | CA412977693 | CYBB | c.*701G>T (n.*701G>T) c.1096G>T (p.Val366Leu) c.1192G>T (p.Val398Leu) c.171+379046G>T (n.171+379046G>T) c.886G>T (p.Val296Leu) | |
X | g.37805047T>A | CA412977695 | CYBB | c.*702T>A (n.*702T>A) c.1097T>A (p.Val366Glu) c.1193T>A (p.Val398Glu) c.171+379047T>A (n.171+379047T>A) c.887T>A (p.Val296Glu) | |
X | g.37805047T>C | CA412977696 | CYBB | c.*702T>C (n.*702T>C) c.1097T>C (p.Val366Ala) c.1193T>C (p.Val398Ala) c.171+379047T>C (n.171+379047T>C) c.887T>C (p.Val296Ala) | |
X | g.37805047T>G | CA412977697 | CYBB | c.*702T>G (n.*702T>G) c.1097T>G (p.Val366Gly) c.1193T>G (p.Val398Gly) c.171+379047T>G (n.171+379047T>G) c.887T>G (p.Val296Gly) | |
X | g.37805048G>A | CA515677471 | CYBB | c.*703G>A (n.*703G>A) c.1098G>A (p.Val366=) c.1194G>A (p.Val398=) c.171+379048G>A (n.171+379048G>A) c.888G>A (p.Val296=) | |
X | g.37805048G>C | CA515677473 | CYBB | c.*703G>C (n.*703G>C) c.1098G>C (p.Val366=) c.1194G>C (p.Val398=) c.171+379048G>C (n.171+379048G>C) c.888G>C (p.Val296=) | ClinVar |
X | g.37805048G>T | CA515677476 | CYBB | c.*703G>T (n.*703G>T) c.1098G>T (p.Val366=) c.1194G>T (p.Val398=) c.171+379048G>T (n.171+379048G>T) c.888G>T (p.Val296=) | COSMIC |
X | g.37805049T>A | CA412977698 | CYBB | c.*704T>A (n.*704T>A) c.1099T>A (p.Phe367Ile) c.1195T>A (p.Phe399Ile) c.171+379049T>A (n.171+379049T>A) c.889T>A (p.Phe297Ile) | |
X | g.37805049T>C | CA412977699 | CYBB | c.*704T>C (n.*704T>C) c.1099T>C (p.Phe367Leu) c.1195T>C (p.Phe399Leu) c.171+379049T>C (n.171+379049T>C) c.889T>C (p.Phe297Leu) | |
X | g.37805049T>G | CA412977700 | CYBB | c.*704T>G (n.*704T>G) c.1099T>G (p.Phe367Val) c.1195T>G (p.Phe399Val) c.171+379049T>G (n.171+379049T>G) c.889T>G (p.Phe297Val) | |
X | g.37805050T>A | CA412977701 | CYBB | c.*705T>A (n.*705T>A) c.1100T>A (p.Phe367Tyr) c.1196T>A (p.Phe399Tyr) c.171+379050T>A (n.171+379050T>A) c.890T>A (p.Phe297Tyr) | |
X | g.37805050T>C | CA412977702 | CYBB | c.*705T>C (n.*705T>C) c.1100T>C (p.Phe367Ser) c.1196T>C (p.Phe399Ser) c.171+379050T>C (n.171+379050T>C) c.890T>C (p.Phe297Ser) | |
X | g.37805050T>G | CA412977703 | CYBB | c.*705T>G (n.*705T>G) c.1100T>G (p.Phe367Cys) c.1196T>G (p.Phe399Cys) c.171+379050T>G (n.171+379050T>G) c.890T>G (p.Phe297Cys) | |
X | g.37805051C>A | CA412977704 | CYBB | c.*706C>A (n.*706C>A) c.1101C>A (p.Phe367Leu) c.1197C>A (p.Phe399Leu) c.171+379051C>A (n.171+379051C>A) c.891C>A (p.Phe297Leu) | |
X | g.37805051C= | CA2424683360 | CYBB | c.*706C= (n.*706C=) c.1101C= (p.Phe367=) c.1197C= (p.Phe399=) c.171+379051C= (n.171+379051C=) c.891C= (p.Phe297=) | |
X | g.37805051C>G | CA412977705 | CYBB | c.*706C>G (n.*706C>G) c.1101C>G (p.Phe367Leu) c.1197C>G (p.Phe399Leu) c.171+379051C>G (n.171+379051C>G) c.891C>G (p.Phe297Leu) | |
X | g.37805051C>T | CA10383849 | CYBB | c.*706C>T (n.*706C>T) c.1101C>T (p.Phe367=) c.1197C>T (p.Phe399=) c.171+379051C>T (n.171+379051C>T) c.891C>T (p.Phe297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.37805052A>C | CA412977706 | CYBB | c.*707A>C (n.*707A>C) c.1102A>C (p.Ser368Arg) c.1198A>C (p.Ser400Arg) c.171+379052A>C (n.171+379052A>C) c.892A>C (p.Ser298Arg) | |
X | g.37805052A>G | CA412977708 | CYBB | c.*707A>G (n.*707A>G) c.1102A>G (p.Ser368Gly) c.1198A>G (p.Ser400Gly) c.171+379052A>G (n.171+379052A>G) c.892A>G (p.Ser298Gly) | |
X | g.37805052A>T | CA412977707 | CYBB | c.*707A>T (n.*707A>T) c.1102A>T (p.Ser368Cys) c.1198A>T (p.Ser400Cys) c.171+379052A>T (n.171+379052A>T) c.892A>T (p.Ser298Cys) | |
X | g.37805053G>A | CA412977709 | CYBB | c.*708G>A (n.*708G>A) c.1103G>A (p.Ser368Asn) c.1199G>A (p.Ser400Asn) c.171+379053G>A (n.171+379053G>A) c.893G>A (p.Ser298Asn) | |
X | g.37805053G>C | CA412977711 | CYBB | c.*708G>C (n.*708G>C) c.1103G>C (p.Ser368Thr) c.1199G>C (p.Ser400Thr) c.171+379053G>C (n.171+379053G>C) c.893G>C (p.Ser298Thr) | |
X | g.37805053G= | CA2424683361 | CYBB | c.*708G= (n.*708G=) c.1103G= (p.Ser368=) c.1199G= (p.Ser400=) c.171+379053G= (n.171+379053G=) c.893G= (p.Ser298=) | |
X | g.37805053G>T | CA412977710 | CYBB | c.*708G>T (n.*708G>T) c.1103G>T (p.Ser368Ile) c.1199G>T (p.Ser400Ile) c.171+379053G>T (n.171+379053G>T) c.893G>T (p.Ser298Ile) | dbSNP |
X | g.37805054C>A | CA412977712 | CYBB | c.*709C>A (n.*709C>A) c.1104C>A (p.Ser368Arg) c.1200C>A (p.Ser400Arg) c.171+379054C>A (n.171+379054C>A) c.894C>A (p.Ser298Arg) | |
X | g.37805054C>G | CA412977713 | CYBB | c.*709C>G (n.*709C>G) c.1104C>G (p.Ser368Arg) c.1200C>G (p.Ser400Arg) c.171+379054C>G (n.171+379054C>G) c.894C>G (p.Ser298Arg) | |
X | g.37805054C>T | CA515677500 | CYBB | c.*709C>T (n.*709C>T) c.1104C>T (p.Ser368=) c.1200C>T (p.Ser400=) c.171+379054C>T (n.171+379054C>T) c.894C>T (p.Ser298=) | |
X | g.37805055T>A | CA412977714 | CYBB | c.*710T>A (n.*710T>A) c.1105T>A (p.Tyr369Asn) c.1201T>A (p.Tyr401Asn) c.171+379055T>A (n.171+379055T>A) c.895T>A (p.Tyr299Asn) | |
X | g.37805055T>C | CA412977715 | CYBB | c.*710T>C (n.*710T>C) c.1105T>C (p.Tyr369His) c.1201T>C (p.Tyr401His) c.171+379055T>C (n.171+379055T>C) c.895T>C (p.Tyr299His) | |
X | g.37805055T>G | CA412977716 | CYBB | c.*710T>G (n.*710T>G) c.1105T>G (p.Tyr369Asp) c.1201T>G (p.Tyr401Asp) c.171+379055T>G (n.171+379055T>G) c.895T>G (p.Tyr299Asp) | |
X | g.37805056A>C | CA412977719 | CYBB | c.*711A>C (n.*711A>C) c.1106A>C (p.Tyr369Ser) c.1202A>C (p.Tyr401Ser) c.171+379056A>C (n.171+379056A>C) c.896A>C (p.Tyr299Ser) | |
X | g.37805056A>G | CA412977718 | CYBB | c.*711A>G (n.*711A>G) c.1106A>G (p.Tyr369Cys) c.1202A>G (p.Tyr401Cys) c.171+379056A>G (n.171+379056A>G) c.896A>G (p.Tyr299Cys) | |
X | g.37805056A>T | CA412977717 | CYBB | c.*711A>T (n.*711A>T) c.1106A>T (p.Tyr369Phe) c.1202A>T (p.Tyr401Phe) c.171+379056A>T (n.171+379056A>T) c.896A>T (p.Tyr299Phe) | |
X | g.37805057T>A | CA412977720 | CYBB | c.*712T>A (n.*712T>A) c.1107T>A (p.Tyr369Ter) c.1203T>A (p.Tyr401Ter) c.171+379057T>A (n.171+379057T>A) c.897T>A (p.Tyr299Ter) | |
X | g.37805057T>C | CA10383850 | CYBB | c.*712T>C (n.*712T>C) c.1107T>C (p.Tyr369=) c.1203T>C (p.Tyr401=) c.171+379057T>C (n.171+379057T>C) c.897T>C (p.Tyr299=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.37805057T>G | CA412977721 | CYBB | c.*712T>G (n.*712T>G) c.1107T>G (p.Tyr369Ter) c.1203T>G (p.Tyr401Ter) c.171+379057T>G (n.171+379057T>G) c.897T>G (p.Tyr299Ter) | gnomAD v4 |
X | g.37805057T= | CA2424683362 | CYBB | c.*712T= (n.*712T=) c.1107T= (p.Tyr369=) c.1203T= (p.Tyr401=) c.171+379057T= (n.171+379057T=) c.897T= (p.Tyr299=) | |
X | g.37805058G>A | CA412977722 | CYBB | c.*713G>A (n.*713G>A) c.1108G>A (p.Glu370Lys) c.1204G>A (p.Glu402Lys) c.171+379058G>A (n.171+379058G>A) c.898G>A (p.Glu300Lys) | |
X | g.37805058G>C | CA412977723 | CYBB | c.*713G>C (n.*713G>C) c.1108G>C (p.Glu370Gln) c.1204G>C (p.Glu402Gln) c.171+379058G>C (n.171+379058G>C) c.898G>C (p.Glu300Gln) | |
X | g.37805058G>T | CA412977724 | CYBB | c.*713G>T (n.*713G>T) c.1108G>T (p.Glu370Ter) c.1204G>T (p.Glu402Ter) c.171+379058G>T (n.171+379058G>T) c.898G>T (p.Glu300Ter) | |
X | g.37805059A>C | CA412977725 | CYBB | c.*714A>C (n.*714A>C) c.1109A>C (p.Glu370Ala) c.1205A>C (p.Glu402Ala) c.171+379059A>C (n.171+379059A>C) c.899A>C (p.Glu300Ala) | |
X | g.37805059A>G | CA412977727 | CYBB | c.*714A>G (n.*714A>G) c.1109A>G (p.Glu370Gly) c.1205A>G (p.Glu402Gly) c.171+379059A>G (n.171+379059A>G) c.899A>G (p.Glu300Gly) | |
X | g.37805059A>T | CA412977726 | CYBB | c.*714A>T (n.*714A>T) c.1109A>T (p.Glu370Val) c.1205A>T (p.Glu402Val) c.171+379059A>T (n.171+379059A>T) c.899A>T (p.Glu300Val) | |
X | g.37805060G>A | CA515677520 | CYBB | c.*715G>A (n.*715G>A) c.1110G>A (p.Glu370=) c.1206G>A (p.Glu402=) c.171+379060G>A (n.171+379060G>A) c.900G>A (p.Glu300=) | |
X | g.37805060G>C | CA412977728 | CYBB | c.*715G>C (n.*715G>C) c.1110G>C (p.Glu370Asp) c.1206G>C (p.Glu402Asp) c.171+379060G>C (n.171+379060G>C) c.900G>C (p.Glu300Asp) | |
X | g.37805060G>T | CA412977729 | CYBB | c.*715G>T (n.*715G>T) c.1110G>T (p.Glu370Asp) c.1206G>T (p.Glu402Asp) c.171+379060G>T (n.171+379060G>T) c.900G>T (p.Glu300Asp) | ClinVar |
X | g.37805061G>A | CA412977730 | CYBB | c.*716G>A (n.*716G>A) c.1111G>A (p.Val371Met) c.1207G>A (p.Val403Met) c.171+379061G>A (n.171+379061G>A) c.901G>A (p.Val301Met) | gnomAD v4 |
X | g.37805061G>C | CA412977731 | CYBB | c.*716G>C (n.*716G>C) c.1111G>C (p.Val371Leu) c.1207G>C (p.Val403Leu) c.171+379061G>C (n.171+379061G>C) c.901G>C (p.Val301Leu) | |
X | g.37805061G= | CA2424683363 | CYBB | c.*716G= (n.*716G=) c.1111G= (p.Val371=) c.1207G= (p.Val403=) c.171+379061G= (n.171+379061G=) c.901G= (p.Val301=) | |
X | g.37805061G>T | CA412977732 | CYBB | c.*716G>T (n.*716G>T) c.1111G>T (p.Val371Leu) c.1207G>T (p.Val403Leu) c.171+379061G>T (n.171+379061G>T) c.901G>T (p.Val301Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.37805062T>A | CA412977733 | CYBB | c.*717T>A (n.*717T>A) c.1112T>A (p.Val371Glu) c.1208T>A (p.Val403Glu) c.171+379062T>A (n.171+379062T>A) c.902T>A (p.Val301Glu) | |
X | g.37805062T>C | CA412977734 | CYBB | c.*717T>C (n.*717T>C) c.1112T>C (p.Val371Ala) c.1208T>C (p.Val403Ala) c.171+379062T>C (n.171+379062T>C) c.902T>C (p.Val301Ala) | |
X | g.37805062T>G | CA412977735 | CYBB | c.*717T>G (n.*717T>G) c.1112T>G (p.Val371Gly) c.1208T>G (p.Val403Gly) c.171+379062T>G (n.171+379062T>G) c.902T>G (p.Val301Gly) | |
X | g.37805063G>A | CA515677536 | CYBB | c.*718G>A (n.*718G>A) c.1113G>A (p.Val371=) c.1209G>A (p.Val403=) c.171+379063G>A (n.171+379063G>A) c.903G>A (p.Val301=) | |
X | g.37805063G>C | CA515677537 | CYBB | c.*718G>C (n.*718G>C) c.1113G>C (p.Val371=) c.1209G>C (p.Val403=) c.171+379063G>C (n.171+379063G>C) c.903G>C (p.Val301=) | |
X | g.37805063G= | CA2424683364 | CYBB | c.*718G= (n.*718G=) c.1113G= (p.Val371=) c.1209G= (p.Val403=) c.171+379063G= (n.171+379063G=) c.903G= (p.Val301=) | |
X | g.37805063G>T | CA515677534 | CYBB | c.*718G>T (n.*718G>T) c.1113G>T (p.Val371=) c.1209G>T (p.Val403=) c.171+379063G>T (n.171+379063G>T) c.903G>T (p.Val301=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.37805064G>A | CA412977736 | CYBB | c.*719G>A (n.*719G>A) c.1114G>A (p.Val372Met) c.1210G>A (p.Val404Met) c.171+379064G>A (n.171+379064G>A) c.904G>A (p.Val302Met) | |
X | g.37805064G>C | CA412977737 | CYBB | c.*719G>C (n.*719G>C) c.1114G>C (p.Val372Leu) c.1210G>C (p.Val404Leu) c.171+379064G>C (n.171+379064G>C) c.904G>C (p.Val302Leu) | |
X | g.37805064G>T | CA412977738 | CYBB | c.*719G>T (n.*719G>T) c.1114G>T (p.Val372Leu) c.1210G>T (p.Val404Leu) c.171+379064G>T (n.171+379064G>T) c.904G>T (p.Val302Leu) | |
X | g.37805065T>A | CA412977739 | CYBB | c.*720T>A (n.*720T>A) c.1115T>A (p.Val372Glu) c.1211T>A (p.Val404Glu) c.171+379065T>A (n.171+379065T>A) c.905T>A (p.Val302Glu) | |
X | g.37805065T>C | CA412977741 | CYBB | c.*720T>C (n.*720T>C) c.1115T>C (p.Val372Ala) c.1211T>C (p.Val404Ala) c.171+379065T>C (n.171+379065T>C) c.905T>C (p.Val302Ala) | |
X | g.37805065T>G | CA412977740 | CYBB | c.*720T>G (n.*720T>G) c.1115T>G (p.Val372Gly) c.1211T>G (p.Val404Gly) c.171+379065T>G (n.171+379065T>G) c.905T>G (p.Val302Gly) | |
X | g.37805066del | CA2695233205 | CYBB | c.*721del (n.*721del) c.1116del (p.Met373CysfsTer2) c.1212del (p.Met405CysfsTer2) c.171+379066del (n.171+379066del) c.906del (p.Met303CysfsTer2) | |
X | g.37805066G>A | CA515677554 | CYBB | c.*721G>A (n.*721G>A) c.1116G>A (p.Val372=) c.1212G>A (p.Val404=) c.171+379066G>A (n.171+379066G>A) c.906G>A (p.Val302=) | gnomAD v4 |
X | g.37805066G>C | CA515677552 | CYBB | c.*721G>C (n.*721G>C) c.1116G>C (p.Val372=) c.1212G>C (p.Val404=) c.171+379066G>C (n.171+379066G>C) c.906G>C (p.Val302=) | |
X | g.37805066G>T | CA515677551 | CYBB | c.*721G>T (n.*721G>T) c.1116G>T (p.Val372=) c.1212G>T (p.Val404=) c.171+379066G>T (n.171+379066G>T) c.906G>T (p.Val302=) | |
X | g.37805067A= | CA2424683365 | CYBB | c.*722A= (n.*722A=) c.1117A= (p.Met373=) c.1213A= (p.Met405=) c.171+379067A= (n.171+379067A=) c.907A= (p.Met303=) | |
X | g.37805067A>C | CA412977742 | CYBB | c.*722A>C (n.*722A>C) c.1117A>C (p.Met373Leu) c.1213A>C (p.Met405Leu) c.171+379067A>C (n.171+379067A>C) c.907A>C (p.Met303Leu) | gnomAD v4 |
X | g.37805067A>G | CA412977743 | CYBB | c.*722A>G (n.*722A>G) c.1117A>G (p.Met373Val) c.1213A>G (p.Met405Val) c.171+379067A>G (n.171+379067A>G) c.907A>G (p.Met303Val) | dbSNP gnomAD v4 |
X | g.37805067A>T | CA412977744 | CYBB | c.*722A>T (n.*722A>T) c.1117A>T (p.Met373Leu) c.1213A>T (p.Met405Leu) c.171+379067A>T (n.171+379067A>T) c.907A>T (p.Met303Leu) | |
X | g.37805068T>A | CA412977745 | CYBB | c.*723T>A (n.*723T>A) c.1118T>A (p.Met373Lys) c.1214T>A (p.Met405Lys) c.171+379068T>A (n.171+379068T>A) c.908T>A (p.Met303Lys) | |
X | g.37805068T>C | CA412977746 | CYBB | c.*723T>C (n.*723T>C) c.1118T>C (p.Met373Thr) c.1214T>C (p.Met405Thr) c.171+379068T>C (n.171+379068T>C) c.908T>C (p.Met303Thr) | |
X | g.37805068T>G | CA219679 | CYBB | c.*723T>G (n.*723T>G) c.1118T>G (p.Met373Arg) c.1214T>G (p.Met405Arg) c.171+379068T>G (n.171+379068T>G) c.908T>G (p.Met303Arg) | ClinVar dbSNP |
X | g.37805068T= | CA2424683366 | CYBB | c.*723T= (n.*723T=) c.1118T= (p.Met373=) c.1214T= (p.Met405=) c.171+379068T= (n.171+379068T=) c.908T= (p.Met303=) | |
X | g.37805069G>A | CA412977747 | CYBB | c.*724G>A (n.*724G>A) c.1119G>A (p.Met373Ile) c.1215G>A (p.Met405Ile) c.171+379069G>A (n.171+379069G>A) c.909G>A (p.Met303Ile) | |
X | g.37805069G>C | CA412977748 | CYBB | c.*724G>C (n.*724G>C) c.1119G>C (p.Met373Ile) c.1215G>C (p.Met405Ile) c.171+379069G>C (n.171+379069G>C) c.909G>C (p.Met303Ile) | |
X | g.37805069G>T | CA412977749 | CYBB | c.*724G>T (n.*724G>T) c.1119G>T (p.Met373Ile) c.1215G>T (p.Met405Ile) c.171+379069G>T (n.171+379069G>T) c.909G>T (p.Met303Ile) | |
X | g.37805070T>A | CA412977750 | CYBB | c.*725T>A (n.*725T>A) c.1120T>A (p.Leu374Ile) c.1216T>A (p.Leu406Ile) c.171+379070T>A (n.171+379070T>A) c.910T>A (p.Leu304Ile) | gnomAD v4 |
X | g.37805070T>C | CA515677572 | CYBB | c.*725T>C (n.*725T>C) c.1120T>C (p.Leu374=) c.1216T>C (p.Leu406=) c.171+379070T>C (n.171+379070T>C) c.910T>C (p.Leu304=) | |
X | g.37805070T>G | CA412977751 | CYBB | c.*725T>G (n.*725T>G) c.1120T>G (p.Leu374Val) c.1216T>G (p.Leu406Val) c.171+379070T>G (n.171+379070T>G) c.910T>G (p.Leu304Val) | |
X | g.37805071T>A | CA412977754 | CYBB | c.*726T>A (n.*726T>A) c.1121T>A (p.Leu374Ter) c.1217T>A (p.Leu406Ter) c.171+379071T>A (n.171+379071T>A) c.911T>A (p.Leu304Ter) | |
X | g.37805071T>C | CA412977752 | CYBB | c.*726T>C (n.*726T>C) c.1121T>C (p.Leu374Ser) c.1217T>C (p.Leu406Ser) c.171+379071T>C (n.171+379071T>C) c.911T>C (p.Leu304Ser) | |
X | g.37805071T>G | CA412977753 | CYBB | c.*726T>G (n.*726T>G) c.1121T>G (p.Leu374Ter) c.1217T>G (p.Leu406Ter) c.171+379071T>G (n.171+379071T>G) c.911T>G (p.Leu304Ter) | |
X | g.37805072A>C | CA412977755 | CYBB | c.*727A>C (n.*727A>C) c.1122A>C (p.Leu374Phe) c.1218A>C (p.Leu406Phe) c.171+379072A>C (n.171+379072A>C) c.912A>C (p.Leu304Phe) | |
X | g.37805072A>G | CA515677581 | CYBB | c.*727A>G (n.*727A>G) c.1122A>G (p.Leu374=) c.1218A>G (p.Leu406=) c.171+379072A>G (n.171+379072A>G) c.912A>G (p.Leu304=) | |
X | g.37805072A>T | CA412977756 | CYBB | c.*727A>T (n.*727A>T) c.1122A>T (p.Leu374Phe) c.1218A>T (p.Leu406Phe) c.171+379072A>T (n.171+379072A>T) c.912A>T (p.Leu304Phe) | |
X | g.37805073G>A | CA412977757 | CYBB | c.*728G>A (n.*728G>A) c.1123G>A (p.Val375Met) c.1219G>A (p.Val407Met) c.171+379073G>A (n.171+379073G>A) c.913G>A (p.Val305Met) | gnomAD v4 |
X | g.37805073G>C | CA412977758 | CYBB | c.*728G>C (n.*728G>C) c.1123G>C (p.Val375Leu) c.1219G>C (p.Val407Leu) c.171+379073G>C (n.171+379073G>C) c.913G>C (p.Val305Leu) | |
X | g.37805073G>T | CA412977759 | CYBB | c.*728G>T (n.*728G>T) c.1123G>T (p.Val375Leu) c.1219G>T (p.Val407Leu) c.171+379073G>T (n.171+379073G>T) c.913G>T (p.Val305Leu) | |
X | g.37805074T>A | CA412977760 | CYBB | c.*729T>A (n.*729T>A) c.1124T>A (p.Val375Glu) c.1220T>A (p.Val407Glu) c.171+379074T>A (n.171+379074T>A) c.914T>A (p.Val305Glu) | |
X | g.37805074T>C | CA10383851 | CYBB | c.*729T>C (n.*729T>C) c.1124T>C (p.Val375Ala) c.1220T>C (p.Val407Ala) c.171+379074T>C (n.171+379074T>C) c.914T>C (p.Val305Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.37805074T>G | CA412977761 | CYBB | c.*729T>G (n.*729T>G) c.1124T>G (p.Val375Gly) c.1220T>G (p.Val407Gly) c.171+379074T>G (n.171+379074T>G) c.914T>G (p.Val305Gly) | |
X | g.37805074T= | CA2424683367 | CYBB | c.*729T= (n.*729T=) c.1124T= (p.Val375=) c.1220T= (p.Val407=) c.171+379074T= (n.171+379074T=) c.914T= (p.Val305=) | |
X | g.37805075G>A | CA515677594 | CYBB | c.*730G>A (n.*730G>A) c.1125G>A (p.Val375=) c.1221G>A (p.Val407=) c.171+379075G>A (n.171+379075G>A) c.915G>A (p.Val305=) | ClinVar |
X | g.37805075G>C | CA515677597 | CYBB | c.*730G>C (n.*730G>C) c.1125G>C (p.Val375=) c.1221G>C (p.Val407=) c.171+379075G>C (n.171+379075G>C) c.915G>C (p.Val305=) | |
X | g.37805075G>T | CA515677599 | CYBB | c.*730G>T (n.*730G>T) c.1125G>T (p.Val375=) c.1221G>T (p.Val407=) c.171+379075G>T (n.171+379075G>T) c.915G>T (p.Val305=) | |
X | g.37805076G>A | CA219683 | CYBB | c.*731G>A (n.*731G>A) c.1126G>A (p.Gly376Arg) c.1222G>A (p.Gly408Arg) c.171+379076G>A (n.171+379076G>A) c.916G>A (p.Gly306Arg) | ClinVar dbSNP |
X | g.37805076G>C | CA412977762 | CYBB | c.*731G>C (n.*731G>C) c.1126G>C (p.Gly376Arg) c.1222G>C (p.Gly408Arg) c.171+379076G>C (n.171+379076G>C) c.916G>C (p.Gly306Arg) | |
X | g.37805076G= | CA2424683368 | CYBB | c.*731G= (n.*731G=) c.1126G= (p.Gly376=) c.1222G= (p.Gly408=) c.171+379076G= (n.171+379076G=) c.916G= (p.Gly306=) | |
X | g.37805076G>T | CA412977763 | CYBB | c.*731G>T (n.*731G>T) c.1126G>T (p.Gly376Ter) c.1222G>T (p.Gly408Ter) c.171+379076G>T (n.171+379076G>T) c.916G>T (p.Gly306Ter) | |
X | g.37805077G>A | CA219685 | CYBB | c.*732G>A (n.*732G>A) c.1127G>A (p.Gly376Glu) c.1223G>A (p.Gly408Glu) c.171+379077G>A (n.171+379077G>A) c.917G>A (p.Gly306Glu) | ClinVar dbSNP COSMIC |
X | g.37805077G>C | CA10383852 | CYBB | c.*732G>C (n.*732G>C) c.1127G>C (p.Gly376Ala) c.1223G>C (p.Gly408Ala) c.171+379077G>C (n.171+379077G>C) c.917G>C (p.Gly306Ala) | ClinVar dbSNP ExAC gnomAD v2 |
X | g.37805077G= | CA2424683369 | CYBB | c.*732G= (n.*732G=) c.1127G= (p.Gly376=) c.1223G= (p.Gly408=) c.171+379077G= (n.171+379077G=) c.917G= (p.Gly306=) | |
X | g.37805077G>T | CA412977764 | CYBB | c.*732G>T (n.*732G>T) c.1127G>T (p.Gly376Val) c.1223G>T (p.Gly408Val) c.171+379077G>T (n.171+379077G>T) c.917G>T (p.Gly306Val) | |
X | g.37805078A>C | CA515677623 | CYBB | c.*733A>C (n.*733A>C) c.1128A>C (p.Gly376=) c.1224A>C (p.Gly408=) c.171+379078A>C (n.171+379078A>C) c.918A>C (p.Gly306=) | |
X | g.37805078A>G | CA515677625 | CYBB | c.*733A>G (n.*733A>G) c.1128A>G (p.Gly376=) c.1224A>G (p.Gly408=) c.171+379078A>G (n.171+379078A>G) c.918A>G (p.Gly306=) | |
X | g.37805078A>T | CA515677627 | CYBB | c.*733A>T (n.*733A>T) c.1128A>T (p.Gly376=) c.1224A>T (p.Gly408=) c.171+379078A>T (n.171+379078A>T) c.918A>T (p.Gly306=) | |
X | g.37805079G>A | CA412977767 | CYBB | c.*734G>A (n.*734G>A) c.1129G>A (p.Ala377Thr) c.1225G>A (p.Ala409Thr) c.171+379079G>A (n.171+379079G>A) c.919G>A (p.Ala307Thr) | |
X | g.37805079G>C | CA412977765 | CYBB | c.*734G>C (n.*734G>C) c.1129G>C (p.Ala377Pro) c.1225G>C (p.Ala409Pro) c.171+379079G>C (n.171+379079G>C) c.919G>C (p.Ala307Pro) | |
X | g.37805079G>T | CA412977766 | CYBB | c.*734G>T (n.*734G>T) c.1129G>T (p.Ala377Ser) c.1225G>T (p.Ala409Ser) c.171+379079G>T (n.171+379079G>T) c.919G>T (p.Ala307Ser) | |
X | g.37805080C>A | CA412977768 | CYBB | c.*735C>A (n.*735C>A) c.1130C>A (p.Ala377Glu) c.1226C>A (p.Ala409Glu) c.171+379080C>A (n.171+379080C>A) c.920C>A (p.Ala307Glu) | ClinVar |
X | g.37805080C>G | CA412977769 | CYBB | c.*735C>G (n.*735C>G) c.1130C>G (p.Ala377Gly) c.1226C>G (p.Ala409Gly) c.171+379080C>G (n.171+379080C>G) c.920C>G (p.Ala307Gly) | |
X | g.37805080C>T | CA412977770 | CYBB | c.*735C>T (n.*735C>T) c.1130C>T (p.Ala377Val) c.1226C>T (p.Ala409Val) c.171+379080C>T (n.171+379080C>T) c.920C>T (p.Ala307Val) | |
X | g.37805081A>C | CA515677641 | CYBB | c.*736A>C (n.*736A>C) c.1131A>C (p.Ala377=) c.1227A>C (p.Ala409=) c.171+379081A>C (n.171+379081A>C) c.921A>C (p.Ala307=) | gnomAD v4 |
X | g.37805081A>G | CA515677643 | CYBB | c.*736A>G (n.*736A>G) c.1131A>G (p.Ala377=) c.1227A>G (p.Ala409=) c.171+379081A>G (n.171+379081A>G) c.921A>G (p.Ala307=) | |
X | g.37805081A>T | CA515677645 | CYBB | c.*736A>T (n.*736A>T) c.1131A>T (p.Ala377=) c.1227A>T (p.Ala409=) c.171+379081A>T (n.171+379081A>T) c.921A>T (p.Ala307=) | |
X | g.37805082G>A | CA412977771 | CYBB | c.*737G>A (n.*737G>A) c.1132G>A (p.Gly378Arg) c.1228G>A (p.Gly410Arg) c.171+379082G>A (n.171+379082G>A) c.922G>A (p.Gly308Arg) | |
X | g.37805082G>C | CA412977772 | CYBB | c.*737G>C (n.*737G>C) c.1132G>C (p.Gly378Arg) c.1228G>C (p.Gly410Arg) c.171+379082G>C (n.171+379082G>C) c.922G>C (p.Gly308Arg) | |
X | g.37805082G>T | CA412977773 | CYBB | c.*737G>T (n.*737G>T) c.1132G>T (p.Gly378Trp) c.1228G>T (p.Gly410Trp) c.171+379082G>T (n.171+379082G>T) c.922G>T (p.Gly308Trp) | |
X | g.37805083G>A | CA412977774 | CYBB | c.*738G>A (n.*738G>A) c.1133G>A (p.Gly378Glu) c.1229G>A (p.Gly410Glu) c.171+379083G>A (n.171+379083G>A) c.923G>A (p.Gly308Glu) | |
X | g.37805083G>C | CA412977775 | CYBB | c.*738G>C (n.*738G>C) c.1133G>C (p.Gly378Ala) c.1229G>C (p.Gly410Ala) c.171+379083G>C (n.171+379083G>C) c.923G>C (p.Gly308Ala) | |
X | g.37805083G>T | CA412977776 | CYBB | c.*738G>T (n.*738G>T) c.1133G>T (p.Gly378Val) c.1229G>T (p.Gly410Val) c.171+379083G>T (n.171+379083G>T) c.923G>T (p.Gly308Val) | |
X | g.37805084G>A | CA515677656 | CYBB | c.*739G>A (n.*739G>A) c.1134G>A (p.Gly378=) c.1230G>A (p.Gly410=) c.171+379084G>A (n.171+379084G>A) c.924G>A (p.Gly308=) | |
X | g.37805084G>C | CA515677661 | CYBB | c.*739G>C (n.*739G>C) c.1134G>C (p.Gly378=) c.1230G>C (p.Gly410=) c.171+379084G>C (n.171+379084G>C) c.924G>C (p.Gly308=) | |
X | g.37805084G>T | CA515677658 | CYBB | c.*739G>T (n.*739G>T) c.1134G>T (p.Gly378=) c.1230G>T (p.Gly410=) c.171+379084G>T (n.171+379084G>T) c.924G>T (p.Gly308=) | |
X | g.37805085A= | CA2424683370 | CYBB | c.*740A= (n.*740A=) c.1135A= (p.Ile379=) c.1231A= (p.Ile411=) c.171+379085A= (n.171+379085A=) c.925A= (p.Ile309=) | |
X | g.37805085A>C | CA412977778 | CYBB | c.*740A>C (n.*740A>C) c.1135A>C (p.Ile379Leu) c.1231A>C (p.Ile411Leu) c.171+379085A>C (n.171+379085A>C) c.925A>C (p.Ile309Leu) | |
X | g.37805085A>G | CA412977777 | CYBB | c.*740A>G (n.*740A>G) c.1135A>G (p.Ile379Val) c.1231A>G (p.Ile411Val) c.171+379085A>G (n.171+379085A>G) c.925A>G (p.Ile309Val) | |
X | g.37805085A>T | CA16609183 | CYBB | c.*740A>T (n.*740A>T) c.1135A>T (p.Ile379Phe) c.1231A>T (p.Ile411Phe) c.171+379085A>T (n.171+379085A>T) c.925A>T (p.Ile309Phe) | ClinVar dbSNP |
X | g.37805086T>A | CA412977779 | CYBB | c.*741T>A (n.*741T>A) c.1136T>A (p.Ile379Asn) c.1232T>A (p.Ile411Asn) c.171+379086T>A (n.171+379086T>A) c.926T>A (p.Ile309Asn) | |
X | g.37805086T>C | CA412977780 | CYBB | c.*741T>C (n.*741T>C) c.1136T>C (p.Ile379Thr) c.1232T>C (p.Ile411Thr) c.171+379086T>C (n.171+379086T>C) c.926T>C (p.Ile309Thr) | |
X | g.37805086T>G | CA412977781 | CYBB | c.*741T>G (n.*741T>G) c.1136T>G (p.Ile379Ser) c.1232T>G (p.Ile411Ser) c.171+379086T>G (n.171+379086T>G) c.926T>G (p.Ile309Ser) | |
X | g.37805087T>A | CA515677671 | CYBB | c.*742T>A (n.*742T>A) c.1137T>A (p.Ile379=) c.1233T>A (p.Ile411=) c.171+379087T>A (n.171+379087T>A) c.927T>A (p.Ile309=) | |
X | g.37805087T>C | CA515677673 | CYBB | c.*742T>C (n.*742T>C) c.1137T>C (p.Ile379=) c.1233T>C (p.Ile411=) c.171+379087T>C (n.171+379087T>C) c.927T>C (p.Ile309=) | |
X | g.37805087T>G | CA412977782 | CYBB | c.*742T>G (n.*742T>G) c.1137T>G (p.Ile379Met) c.1233T>G (p.Ile411Met) c.171+379087T>G (n.171+379087T>G) c.927T>G (p.Ile309Met) | |
X | g.37805087T= | CA2424683371 | CYBB | c.*742T= (n.*742T=) c.1137T= (p.Ile379=) c.1233T= (p.Ile411=) c.171+379087T= (n.171+379087T=) c.927T= (p.Ile309=) | |
X | g.37805088G>A | CA412977783 | CYBB | c.*743G>A (n.*743G>A) c.1138G>A (p.Gly380Arg) c.1234G>A (p.Gly412Arg) c.171+379088G>A (n.171+379088G>A) c.928G>A (p.Gly310Arg) | ClinVar |
X | g.37805088G>C | CA412977784 | CYBB | c.*743G>C (n.*743G>C) c.1138G>C (p.Gly380Arg) c.1234G>C (p.Gly412Arg) c.171+379088G>C (n.171+379088G>C) c.928G>C (p.Gly310Arg) | |
X | g.37805088G>T | CA412977785 | CYBB | c.*743G>T (n.*743G>T) c.1138G>T (p.Gly380Trp) c.1234G>T (p.Gly412Trp) c.171+379088G>T (n.171+379088G>T) c.928G>T (p.Gly310Trp) | |
X | g.37805091dup | CA913190353 | CYBB | c.*746dup (n.*746dup) c.1141dup (p.Val381GlyfsTer18) c.1237dup (p.Val413GlyfsTer18) c.171+379091dup (n.171+379091dup) c.931dup (p.Val311GlyfsTer18) | ClinVar dbSNP |
X | g.37805091del | CA2695233206 | CYBB | c.*746del (n.*746del) c.1141del (p.Val381SerfsTer22) c.1237del (p.Val413SerfsTer22) c.171+379091del (n.171+379091del) c.931del (p.Val311SerfsTer22) | |
X | g.37805089G>A | CA412977786 | CYBB | c.*744G>A (n.*744G>A) c.1139G>A (p.Gly380Glu) c.1235G>A (p.Gly412Glu) c.171+379089G>A (n.171+379089G>A) c.929G>A (p.Gly310Glu) | |
X | g.37805089G>C | CA412977787 | CYBB | c.*744G>C (n.*744G>C) c.1139G>C (p.Gly380Ala) c.1235G>C (p.Gly412Ala) c.171+379089G>C (n.171+379089G>C) c.929G>C (p.Gly310Ala) | |
X | g.37805089G>T | CA412977788 | CYBB | c.*744G>T (n.*744G>T) c.1139G>T (p.Gly380Val) c.1235G>T (p.Gly412Val) c.171+379089G>T (n.171+379089G>T) c.929G>T (p.Gly310Val) | |
X | g.37805090G>A | CA515677686 | CYBB | c.*745G>A (n.*745G>A) c.1140G>A (p.Gly380=) c.1236G>A (p.Gly412=) c.171+379090G>A (n.171+379090G>A) c.930G>A (p.Gly310=) | ClinVar |
X | g.37805090G>C | CA515677688 | CYBB | c.*745G>C (n.*745G>C) c.1140G>C (p.Gly380=) c.1236G>C (p.Gly412=) c.171+379090G>C (n.171+379090G>C) c.930G>C (p.Gly310=) | |
X | g.37805090G>T | CA515677689 | CYBB | c.*745G>T (n.*745G>T) c.1140G>T (p.Gly380=) c.1236G>T (p.Gly412=) c.171+379090G>T (n.171+379090G>T) c.930G>T (p.Gly310=) | |
X | g.37805091G>A | CA412977789 | CYBB | c.*746G>A (n.*746G>A) c.1141G>A (p.Val381Ile) c.1237G>A (p.Val413Ile) c.171+379091G>A (n.171+379091G>A) c.931G>A (p.Val311Ile) | gnomAD v4 |
X | g.37805091G>C | CA412977790 | CYBB | c.*746G>C (n.*746G>C) c.1141G>C (p.Val381Leu) c.1237G>C (p.Val413Leu) c.171+379091G>C (n.171+379091G>C) c.931G>C (p.Val311Leu) | |
X | g.37805091G>T | CA412977791 | CYBB | c.*746G>T (n.*746G>T) c.1141G>T (p.Val381Phe) c.1237G>T (p.Val413Phe) c.171+379091G>T (n.171+379091G>T) c.931G>T (p.Val311Phe) | gnomAD v4 |
X | g.37805092T>A | CA412977793 | CYBB | c.*747T>A (n.*747T>A) c.1142T>A (p.Val381Asp) c.1238T>A (p.Val413Asp) c.171+379092T>A (n.171+379092T>A) c.932T>A (p.Val311Asp) | |
X | g.37805092T>C | CA412977794 | CYBB | c.*747T>C (n.*747T>C) c.1142T>C (p.Val381Ala) c.1238T>C (p.Val413Ala) c.171+379092T>C (n.171+379092T>C) c.932T>C (p.Val311Ala) | |
X | g.37805092T>G | CA412977792 | CYBB | c.*747T>G (n.*747T>G) c.1142T>G (p.Val381Gly) c.1238T>G (p.Val413Gly) c.171+379092T>G (n.171+379092T>G) c.932T>G (p.Val311Gly) | |
X | g.37805093C>A | CA515677699 | CYBB | c.*748C>A (n.*748C>A) c.1143C>A (p.Val381=) c.1239C>A (p.Val413=) c.171+379093C>A (n.171+379093C>A) c.933C>A (p.Val311=) | |
X | g.37805093C>G | CA515677702 | CYBB | c.*748C>G (n.*748C>G) c.1143C>G (p.Val381=) c.1239C>G (p.Val413=) c.171+379093C>G (n.171+379093C>G) c.933C>G (p.Val311=) | |
X | g.37805093C>T | CA515677704 | CYBB | c.*748C>T (n.*748C>T) c.1143C>T (p.Val381=) c.1239C>T (p.Val413=) c.171+379093C>T (n.171+379093C>T) c.933C>T (p.Val311=) | |
X | g.37805094A>C | CA412977795 | CYBB | c.*749A>C (n.*749A>C) c.1144A>C (p.Thr382Pro) c.1240A>C (p.Thr414Pro) c.171+379094A>C (n.171+379094A>C) c.934A>C (p.Thr312Pro) | |
X | g.37805094A>G | CA412977796 | CYBB | c.*749A>G (n.*749A>G) c.1144A>G (p.Thr382Ala) c.1240A>G (p.Thr414Ala) c.171+379094A>G (n.171+379094A>G) c.934A>G (p.Thr312Ala) | |
X | g.37805094A>T | CA412977797 | CYBB | c.*749A>T (n.*749A>T) c.1144A>T (p.Thr382Ser) c.1240A>T (p.Thr414Ser) c.171+379094A>T (n.171+379094A>T) c.934A>T (p.Thr312Ser) | |
X | g.37805095C>A | CA412977798 | CYBB | c.*750C>A (n.*750C>A) c.1145C>A (p.Thr382Lys) c.1241C>A (p.Thr414Lys) c.171+379095C>A (n.171+379095C>A) c.935C>A (p.Thr312Lys) | ClinVar |
X | g.37805095C>G | CA412977799 | CYBB | c.*750C>G (n.*750C>G) c.1145C>G (p.Thr382Arg) c.1241C>G (p.Thr414Arg) c.171+379095C>G (n.171+379095C>G) c.935C>G (p.Thr312Arg) | |
X | g.37805095C>T | CA412977800 | CYBB | c.*750C>T (n.*750C>T) c.1145C>T (p.Thr382Ile) c.1241C>T (p.Thr414Ile) c.171+379095C>T (n.171+379095C>T) c.935C>T (p.Thr312Ile) | |
X | g.37805096A>C | CA515677716 | CYBB | c.*751A>C (n.*751A>C) c.1146A>C (p.Thr382=) c.1242A>C (p.Thr414=) c.171+379096A>C (n.171+379096A>C) c.936A>C (p.Thr312=) | |
X | g.37805096A>G | CA515677718 | CYBB | c.*751A>G (n.*751A>G) c.1146A>G (p.Thr382=) c.1242A>G (p.Thr414=) c.171+379096A>G (n.171+379096A>G) c.936A>G (p.Thr312=) | |
X | g.37805096A>T | CA515677720 | CYBB | c.*751A>T (n.*751A>T) c.1146A>T (p.Thr382=) c.1242A>T (p.Thr414=) c.171+379096A>T (n.171+379096A>T) c.936A>T (p.Thr312=) | |
X | g.37805096_37805097delinsAC | CA2424683372 | CYBB | c.*751_*752delinsAC (n.*751_*752delinsAC) c.1146_1147delinsAC (p.Thr382=) c.1242_1243delinsAC (p.Thr414=) c.171+379096_171+379097delinsAC (n.171+379096_171+379097delinsAC) c.936_937delinsAC (p.Thr312=) | |
X | g.37805097C>A | CA412977801 | CYBB | c.*752C>A (n.*752C>A) c.1147C>A (p.Pro383Thr) c.1243C>A (p.Pro415Thr) c.171+379097C>A (n.171+379097C>A) c.937C>A (p.Pro313Thr) | |
X | g.37805097C>G | CA412977802 | CYBB | c.*752C>G (n.*752C>G) c.1147C>G (p.Pro383Ala) c.1243C>G (p.Pro415Ala) c.171+379097C>G (n.171+379097C>G) c.937C>G (p.Pro313Ala) | |
X | g.37805097C>T | CA412977803 | CYBB | c.*752C>T (n.*752C>T) c.1147C>T (p.Pro383Ser) c.1243C>T (p.Pro415Ser) c.171+379097C>T (n.171+379097C>T) c.937C>T (p.Pro313Ser) | |
X | g.37805099del | CA916081977 | CYBB | c.*754del (n.*754del) c.1149del (p.Phe384SerfsTer19) c.1245del (p.Phe416SerfsTer19) c.171+379099del (n.171+379099del) c.939del (p.Phe314SerfsTer19) | ClinVar dbSNP |
X | g.37805098C>A | CA121230 | CYBB | c.*753C>A (n.*753C>A) c.1148C>A (p.Pro383His) c.1244C>A (p.Pro415His) c.171+379098C>A (n.171+379098C>A) c.938C>A (p.Pro313His) | ClinVar dbSNP |
X | g.37805098C= | CA2424683373 | CYBB | c.*753C= (n.*753C=) c.1148C= (p.Pro383=) c.1244C= (p.Pro415=) c.171+379098C= (n.171+379098C=) c.938C= (p.Pro313=) | |
X | g.37805098C>G | CA412977804 | CYBB | c.*753C>G (n.*753C>G) c.1148C>G (p.Pro383Arg) c.1244C>G (p.Pro415Arg) c.171+379098C>G (n.171+379098C>G) c.938C>G (p.Pro313Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.37805098C>T | CA219687 | CYBB | c.*753C>T (n.*753C>T) c.1148C>T (p.Pro383Leu) c.1244C>T (p.Pro415Leu) c.171+379098C>T (n.171+379098C>T) c.938C>T (p.Pro313Leu) | ClinVar dbSNP |
X | g.37805099C>A | CA515677730 | CYBB | c.*754C>A (n.*754C>A) c.1149C>A (p.Pro383=) c.1245C>A (p.Pro415=) c.171+379099C>A (n.171+379099C>A) c.939C>A (p.Pro313=) | COSMIC |
X | g.37805099C>G | CA515677732 | CYBB | c.*754C>G (n.*754C>G) c.1149C>G (p.Pro383=) c.1245C>G (p.Pro415=) c.171+379099C>G (n.171+379099C>G) c.939C>G (p.Pro313=) | |
X | g.37805099C>T | CA515677735 | CYBB | c.*754C>T (n.*754C>T) c.1149C>T (p.Pro383=) c.1245C>T (p.Pro415=) c.171+379099C>T (n.171+379099C>T) c.939C>T (p.Pro313=) | |
X | g.37805100T>A | CA412977806 | CYBB | c.*755T>A (n.*755T>A) c.1150T>A (p.Phe384Ile) c.1246T>A (p.Phe416Ile) c.171+379100T>A (n.171+379100T>A) c.940T>A (p.Phe314Ile) | |
X | g.37805100T>C | CA412977807 | CYBB | c.*755T>C (n.*755T>C) c.1150T>C (p.Phe384Leu) c.1246T>C (p.Phe416Leu) c.171+379100T>C (n.171+379100T>C) c.940T>C (p.Phe314Leu) | |
X | g.37805100T>G | CA412977805 | CYBB | c.*755T>G (n.*755T>G) c.1150T>G (p.Phe384Val) c.1246T>G (p.Phe416Val) c.171+379100T>G (n.171+379100T>G) c.940T>G (p.Phe314Val) | |
X | g.37805101T>A | CA412977808 | CYBB | c.*756T>A (n.*756T>A) c.1151T>A (p.Phe384Tyr) c.1247T>A (p.Phe416Tyr) c.171+379101T>A (n.171+379101T>A) c.941T>A (p.Phe314Tyr) | |
X | g.37805101T>C | CA412977809 | CYBB | c.*756T>C (n.*756T>C) c.1151T>C (p.Phe384Ser) c.1247T>C (p.Phe416Ser) c.171+379101T>C (n.171+379101T>C) c.941T>C (p.Phe314Ser) | |
X | g.37805101T>G | CA412977810 | CYBB | c.*756T>G (n.*756T>G) c.1151T>G (p.Phe384Cys) c.1247T>G (p.Phe416Cys) c.171+379101T>G (n.171+379101T>G) c.941T>G (p.Phe314Cys) | |
X | g.37805102C>A | CA412977811 | CYBB | c.*757C>A (n.*757C>A) c.1152C>A (p.Phe384Leu) c.1248C>A (p.Phe416Leu) c.171+379102C>A (n.171+379102C>A) c.942C>A (p.Phe314Leu) | |
X | g.37805102C= | CA2424683374 | CYBB | c.*757C= (n.*757C=) c.1152C= (p.Phe384=) c.1248C= (p.Phe416=) c.171+379102C= (n.171+379102C=) c.942C= (p.Phe314=) | |
X | g.37805102C>G | CA412977812 | CYBB | c.*757C>G (n.*757C>G) c.1152C>G (p.Phe384Leu) c.1248C>G (p.Phe416Leu) c.171+379102C>G (n.171+379102C>G) c.942C>G (p.Phe314Leu) | |
X | g.37805102C>T | CA515677746 | CYBB | c.*757C>T (n.*757C>T) c.1152C>T (p.Phe384=) c.1248C>T (p.Phe416=) c.171+379102C>T (n.171+379102C>T) c.942C>T (p.Phe314=) | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.37805103G>A | CA10383853 | CYBB | c.*758G>A (n.*758G>A) c.1153G>A (p.Ala385Thr) c.1249G>A (p.Ala417Thr) c.171+379103G>A (n.171+379103G>A) c.943G>A (p.Ala315Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.37805103G>C | CA412977814 | CYBB | c.*758G>C (n.*758G>C) c.1153G>C (p.Ala385Pro) c.1249G>C (p.Ala417Pro) c.171+379103G>C (n.171+379103G>C) c.943G>C (p.Ala315Pro) | |
X | g.37805103G= | CA2424683375 | CYBB | c.*758G= (n.*758G=) c.1153G= (p.Ala385=) c.1249G= (p.Ala417=) c.171+379103G= (n.171+379103G=) c.943G= (p.Ala315=) | |
X | g.37805103G>T | CA412977813 | CYBB | c.*758G>T (n.*758G>T) c.1153G>T (p.Ala385Ser) c.1249G>T (p.Ala417Ser) c.171+379103G>T (n.171+379103G>T) c.943G>T (p.Ala315Ser) | ClinVar gnomAD v4 |
X | g.37805104del | CA2579582884 | CYBB | c.*759del (n.*759del) c.1154del (p.Ala385AspfsTer18) c.1250del (p.Ala417AspfsTer18) c.171+379104del (n.171+379104del) c.944del (p.Ala315AspfsTer18) | |
X | g.37805104C>A | CA412977815 | CYBB | c.*759C>A (n.*759C>A) c.1154C>A (p.Ala385Glu) c.1250C>A (p.Ala417Glu) c.171+379104C>A (n.171+379104C>A) c.944C>A (p.Ala315Glu) | dbSNP |
X | g.37805104C= | CA2424683376 | CYBB | c.*759C= (n.*759C=) c.1154C= (p.Ala385=) c.1250C= (p.Ala417=) c.171+379104C= (n.171+379104C=) c.944C= (p.Ala315=) | |
X | g.37805104C>G | CA412977816 | CYBB | c.*759C>G (n.*759C>G) c.1154C>G (p.Ala385Gly) c.1250C>G (p.Ala417Gly) c.171+379104C>G (n.171+379104C>G) c.944C>G (p.Ala315Gly) | |
X | g.37805104C>T | CA412977817 | CYBB | c.*759C>T (n.*759C>T) c.1154C>T (p.Ala385Val) c.1250C>T (p.Ala417Val) c.171+379104C>T (n.171+379104C>T) c.944C>T (p.Ala315Val) | |
X | g.37805105A>C | CA515677762 | CYBB | c.*760A>C (n.*760A>C) c.1155A>C (p.Ala385=) c.1251A>C (p.Ala417=) c.171+379105A>C (n.171+379105A>C) c.945A>C (p.Ala315=) | |
X | g.37805105A>G | CA515677761 | CYBB | c.*760A>G (n.*760A>G) c.1155A>G (p.Ala385=) c.1251A>G (p.Ala417=) c.171+379105A>G (n.171+379105A>G) c.945A>G (p.Ala315=) | |
X | g.37805105A>T | CA515677758 | CYBB | c.*760A>T (n.*760A>T) c.1155A>T (p.Ala385=) c.1251A>T (p.Ala417=) c.171+379105A>T (n.171+379105A>T) c.945A>T (p.Ala315=) | gnomAD v4 |
X | g.37805106T>A | CA412977818 | CYBB | c.*761T>A (n.*761T>A) c.1156T>A (p.Ser386Thr) c.1252T>A (p.Ser418Thr) c.171+379106T>A (n.171+379106T>A) c.946T>A (p.Ser316Thr) | |
X | g.37805106T>C | CA412977819 | CYBB | c.*761T>C (n.*761T>C) c.1156T>C (p.Ser386Pro) c.1252T>C (p.Ser418Pro) c.171+379106T>C (n.171+379106T>C) c.946T>C (p.Ser316Pro) | |
X | g.37805106T>G | CA412977820 | CYBB | c.*761T>G (n.*761T>G) c.1156T>G (p.Ser386Ala) c.1252T>G (p.Ser418Ala) c.171+379106T>G (n.171+379106T>G) c.946T>G (p.Ser316Ala) | |
X | g.37805107C>A | CA412977823 | CYBB | c.*762C>A (n.*762C>A) c.1157C>A (p.Ser386Tyr) c.1253C>A (p.Ser418Tyr) c.171+379107C>A (n.171+379107C>A) c.947C>A (p.Ser316Tyr) | |
X | g.37805107C>G | CA412977822 | CYBB | c.*762C>G (n.*762C>G) c.1157C>G (p.Ser386Cys) c.1253C>G (p.Ser418Cys) c.171+379107C>G (n.171+379107C>G) c.947C>G (p.Ser316Cys) | |
X | g.37805107C>T | CA412977821 | CYBB | c.*762C>T (n.*762C>T) c.1157C>T (p.Ser386Phe) c.1253C>T (p.Ser418Phe) c.171+379107C>T (n.171+379107C>T) c.947C>T (p.Ser316Phe) | |
X | g.37805108C>A | CA515677777 | CYBB | c.*763C>A (n.*763C>A) c.1158C>A (p.Ser386=) c.1254C>A (p.Ser418=) c.171+379108C>A (n.171+379108C>A) c.948C>A (p.Ser316=) | |
X | g.37805108C>G | CA515677775 | CYBB | c.*763C>G (n.*763C>G) c.1158C>G (p.Ser386=) c.1254C>G (p.Ser418=) c.171+379108C>G (n.171+379108C>G) c.948C>G (p.Ser316=) | |
X | g.37805108C>T | CA515677773 | CYBB | c.*763C>T (n.*763C>T) c.1158C>T (p.Ser386=) c.1254C>T (p.Ser418=) c.171+379108C>T (n.171+379108C>T) c.948C>T (p.Ser316=) | |
X | g.37805109A>C | CA412977824 | CYBB | c.*764A>C (n.*764A>C) c.1159A>C (p.Ile387Leu) c.1255A>C (p.Ile419Leu) c.171+379109A>C (n.171+379109A>C) c.949A>C (p.Ile317Leu) | |
X | g.37805109A>G | CA412977825 | CYBB | c.*764A>G (n.*764A>G) c.1159A>G (p.Ile387Val) c.1255A>G (p.Ile419Val) c.171+379109A>G (n.171+379109A>G) c.949A>G (p.Ile317Val) | |
X | g.37805109A>T | CA412977826 | CYBB | c.*764A>T (n.*764A>T) c.1159A>T (p.Ile387Phe) c.1255A>T (p.Ile419Phe) c.171+379109A>T (n.171+379109A>T) c.949A>T (p.Ile317Phe) | |
X | g.37805109dup | CA2695233207 | CYBB | c.*764dup (n.*764dup) c.1159dup (p.Ile387AsnfsTer12) c.1255dup (p.Ile419AsnfsTer12) c.171+379109dup (n.171+379109dup) c.949dup (p.Ile317AsnfsTer12) | |
X | g.37805110T>A | CA412977827 | CYBB | c.*765T>A (n.*765T>A) c.1160T>A (p.Ile387Asn) c.1256T>A (p.Ile419Asn) c.171+379110T>A (n.171+379110T>A) c.950T>A (p.Ile317Asn) | |
X | g.37805110T>C | CA412977828 | CYBB | c.*765T>C (n.*765T>C) c.1160T>C (p.Ile387Thr) c.1256T>C (p.Ile419Thr) c.171+379110T>C (n.171+379110T>C) c.950T>C (p.Ile317Thr) | |
X | g.37805110T>G | CA412977829 | CYBB | c.*765T>G (n.*765T>G) c.1160T>G (p.Ile387Ser) c.1256T>G (p.Ile419Ser) c.171+379110T>G (n.171+379110T>G) c.950T>G (p.Ile317Ser) | |
X | g.37805111T>A | CA515677788 | CYBB | c.*766T>A (n.*766T>A) c.1161T>A (p.Ile387=) c.1257T>A (p.Ile419=) c.171+379111T>A (n.171+379111T>A) c.951T>A (p.Ile317=) | |
X | g.37805111T>C | CA515677792 | CYBB | c.*766T>C (n.*766T>C) c.1161T>C (p.Ile387=) c.1257T>C (p.Ile419=) c.171+379111T>C (n.171+379111T>C) c.951T>C (p.Ile317=) | |
X | g.37805111T>G | CA412977830 | CYBB | c.*766T>G (n.*766T>G) c.1161T>G (p.Ile387Met) c.1257T>G (p.Ile419Met) c.171+379111T>G (n.171+379111T>G) c.951T>G (p.Ile317Met) | |
X | g.37805112C>A | CA412977831 | CYBB | c.*767C>A (n.*767C>A) c.1162C>A (p.Leu388Ile) c.1258C>A (p.Leu420Ile) c.171+379112C>A (n.171+379112C>A) c.952C>A (p.Leu318Ile) | |
X | g.37805112C>G | CA412977832 | CYBB | c.*767C>G (n.*767C>G) c.1162C>G (p.Leu388Val) c.1258C>G (p.Leu420Val) c.171+379112C>G (n.171+379112C>G) c.952C>G (p.Leu318Val) | |
X | g.37805112C>T | CA412977833 | CYBB | c.*767C>T (n.*767C>T) c.1162C>T (p.Leu388Phe) c.1258C>T (p.Leu420Phe) c.171+379112C>T (n.171+379112C>T) c.952C>T (p.Leu318Phe) | |
X | g.37805113T>A | CA412977834 | CYBB | c.*768T>A (n.*768T>A) c.1163T>A (p.Leu388His) c.1259T>A (p.Leu420His) c.171+379113T>A (n.171+379113T>A) c.953T>A (p.Leu318His) | |
X | g.37805113T>C | CA219689 | CYBB | c.*768T>C (n.*768T>C) c.1163T>C (p.Leu388Pro) c.1259T>C (p.Leu420Pro) c.171+379113T>C (n.171+379113T>C) c.953T>C (p.Leu318Pro) | ClinVar dbSNP |
X | g.37805113T>G | CA412977835 | CYBB | c.*768T>G (n.*768T>G) c.1163T>G (p.Leu388Arg) c.1259T>G (p.Leu420Arg) c.171+379113T>G (n.171+379113T>G) c.953T>G (p.Leu318Arg) | |
X | g.37805113T= | CA2424683377 | CYBB | c.*768T= (n.*768T=) c.1163T= (p.Leu388=) c.1259T= (p.Leu420=) c.171+379113T= (n.171+379113T=) c.953T= (p.Leu318=) | |
X | g.37805114C>A | CA515677806 | CYBB | c.*769C>A (n.*769C>A) c.1164C>A (p.Leu388=) c.1260C>A (p.Leu420=) c.171+379114C>A (n.171+379114C>A) c.954C>A (p.Leu318=) | |
X | g.37805114C= | CA2424683378 | CYBB | c.*769C= (n.*769C=) c.1164C= (p.Leu388=) c.1260C= (p.Leu420=) c.171+379114C= (n.171+379114C=) c.954C= (p.Leu318=) | |
X | g.37805114C>G | CA515677808 | CYBB | c.*769C>G (n.*769C>G) c.1164C>G (p.Leu388=) c.1260C>G (p.Leu420=) c.171+379114C>G (n.171+379114C>G) c.954C>G (p.Leu318=) | |
X | g.37805114C>T | CA515677810 | CYBB | c.*769C>T (n.*769C>T) c.1164C>T (p.Leu388=) c.1260C>T (p.Leu420=) c.171+379114C>T (n.171+379114C>T) c.954C>T (p.Leu318=) | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.37805115A>C | CA412977838 | CYBB | c.*770A>C (n.*770A>C) c.1165A>C (p.Lys389Gln) c.1261A>C (p.Lys421Gln) c.171+379115A>C (n.171+379115A>C) c.955A>C (p.Lys319Gln) | |
X | g.37805115A>G | CA412977837 | CYBB | c.*770A>G (n.*770A>G) c.1165A>G (p.Lys389Glu) c.1261A>G (p.Lys421Glu) c.171+379115A>G (n.171+379115A>G) c.955A>G (p.Lys319Glu) | |
X | g.37805115A>T | CA412977836 | CYBB | c.*770A>T (n.*770A>T) c.1165A>T (p.Lys389Ter) c.1261A>T (p.Lys421Ter) c.171+379115A>T (n.171+379115A>T) c.955A>T (p.Lys319Ter) | |
X | g.37805116dup | CA2695233208 | CYBB | c.*771dup (n.*771dup) c.1166dup (p.Ser390ValfsTer9) c.1262dup (p.Ser422ValfsTer9) c.171+379116dup (n.171+379116dup) c.956dup (p.Ser320ValfsTer9) | |
X | g.37805116A>C | CA412977839 | CYBB | c.*771A>C (n.*771A>C) c.1166A>C (p.Lys389Thr) c.1262A>C (p.Lys421Thr) c.171+379116A>C (n.171+379116A>C) c.956A>C (p.Lys319Thr) | |
X | g.37805116A>G | CA412977840 | CYBB | c.*771A>G (n.*771A>G) c.1166A>G (p.Lys389Arg) c.1262A>G (p.Lys421Arg) c.171+379116A>G (n.171+379116A>G) c.956A>G (p.Lys319Arg) | |
X | g.37805116A>T | CA412977841 | CYBB | c.*771A>T (n.*771A>T) c.1166A>T (p.Lys389Met) c.1262A>T (p.Lys421Met) c.171+379116A>T (n.171+379116A>T) c.956A>T (p.Lys319Met) | |
X | g.37805117G>A | CA515677824 | CYBB | c.*772G>A (n.*772G>A) c.1167G>A (p.Lys389=) c.1263G>A (p.Lys421=) c.171+379117G>A (n.171+379117G>A) c.957G>A (p.Lys319=) | |
X | g.37805117G>C | CA412977842 | CYBB | c.*772G>C (n.*772G>C) c.1167G>C (p.Lys389Asn) c.1263G>C (p.Lys421Asn) c.171+379117G>C (n.171+379117G>C) c.957G>C (p.Lys319Asn) | |
X | g.37805117G>T | CA412977843 | CYBB | c.*772G>T (n.*772G>T) c.1167G>T (p.Lys389Asn) c.1263G>T (p.Lys421Asn) c.171+379117G>T (n.171+379117G>T) c.957G>T (p.Lys319Asn) | |
X | g.37805119_37805127del | CA2695233209 | CYBB | c.*774_*782del (n.*774_*782del) c.1169_1177del (p.Ser390_Trp392del) c.1265_1273del (p.Ser422_Trp424del) c.171+379119_171+379127del (n.171+379119_171+379127del) c.959_967del (p.Ser320_Trp322del) | |
X | g.37805118T>A | CA412977844 | CYBB | c.*773T>A (n.*773T>A) c.1168T>A (p.Ser390Thr) c.1264T>A (p.Ser422Thr) c.171+379118T>A (n.171+379118T>A) c.958T>A (p.Ser320Thr) | |
X | g.37805118T>C | CA219691 | CYBB | c.*773T>C (n.*773T>C) c.1168T>C (p.Ser390Pro) c.1264T>C (p.Ser422Pro) c.171+379118T>C (n.171+379118T>C) c.958T>C (p.Ser320Pro) | ClinVar dbSNP |
X | g.37805118T>G | CA412977845 | CYBB | c.*773T>G (n.*773T>G) c.1168T>G (p.Ser390Ala) c.1264T>G (p.Ser422Ala) c.171+379118T>G (n.171+379118T>G) c.958T>G (p.Ser320Ala) | |
X | g.37805118T= | CA2424683379 | CYBB | c.*773T= (n.*773T=) c.1168T= (p.Ser390=) c.1264T= (p.Ser422=) c.171+379118T= (n.171+379118T=) c.958T= (p.Ser320=) | |
X | g.37805119C>A | CA412977846 | CYBB | c.*774C>A (n.*774C>A) c.1169C>A (p.Ser390Ter) c.1265C>A (p.Ser422Ter) c.171+379119C>A (n.171+379119C>A) c.959C>A (p.Ser320Ter) | |
X | g.37805119C>G | CA412977847 | CYBB | c.*774C>G (n.*774C>G) c.1169C>G (p.Ser390Ter) c.1265C>G (p.Ser422Ter) c.171+379119C>G (n.171+379119C>G) c.959C>G (p.Ser320Ter) | |
X | g.37805119C>T | CA412977848 | CYBB | c.*774C>T (n.*774C>T) c.1169C>T (p.Ser390Leu) c.1265C>T (p.Ser422Leu) c.171+379119C>T (n.171+379119C>T) c.959C>T (p.Ser320Leu) | |
X | g.37805120A>C | CA515677840 | CYBB | c.*775A>C (n.*775A>C) c.1170A>C (p.Ser390=) c.1266A>C (p.Ser422=) c.171+379120A>C (n.171+379120A>C) c.960A>C (p.Ser320=) | ClinVar |
X | g.37805120A>G | CA515677843 | CYBB | c.*775A>G (n.*775A>G) c.1170A>G (p.Ser390=) c.1266A>G (p.Ser422=) c.171+379120A>G (n.171+379120A>G) c.960A>G (p.Ser320=) | ClinVar gnomAD v4 |
X | g.37805120A>T | CA515677846 | CYBB | c.*775A>T (n.*775A>T) c.1170A>T (p.Ser390=) c.1266A>T (p.Ser422=) c.171+379120A>T (n.171+379120A>T) c.960A>T (p.Ser320=) | |
X | g.37805121G>A | CA412977849 | CYBB | c.*776G>A (n.*776G>A) c.1171G>A (p.Val391Ile) c.1267G>A (p.Val423Ile) c.171+379121G>A (n.171+379121G>A) c.961G>A (p.Val321Ile) | |
X | g.37805121G>C | CA412977850 | CYBB | c.*776G>C (n.*776G>C) c.1171G>C (p.Val391Leu) c.1267G>C (p.Val423Leu) c.171+379121G>C (n.171+379121G>C) c.961G>C (p.Val321Leu) | |
X | g.37805121G>T | CA412977851 | CYBB | c.*776G>T (n.*776G>T) c.1171G>T (p.Val391Phe) c.1267G>T (p.Val423Phe) c.171+379121G>T (n.171+379121G>T) c.961G>T (p.Val321Phe) | gnomAD v4 |
X | g.37805122T>A | CA412977854 | CYBB | c.*777T>A (n.*777T>A) c.1172T>A (p.Val391Asp) c.1268T>A (p.Val423Asp) c.171+379122T>A (n.171+379122T>A) c.962T>A (p.Val321Asp) | |
X | g.37805122T>C | CA412977853 | CYBB | c.*777T>C (n.*777T>C) c.1172T>C (p.Val391Ala) c.1268T>C (p.Val423Ala) c.171+379122T>C (n.171+379122T>C) c.962T>C (p.Val321Ala) | |
X | g.37805122T>G | CA412977852 | CYBB | c.*777T>G (n.*777T>G) c.1172T>G (p.Val391Gly) c.1268T>G (p.Val423Gly) c.171+379122T>G (n.171+379122T>G) c.962T>G (p.Val321Gly) | |
X | g.37805123C>A | CA10383854 | CYBB | c.*778C>A (n.*778C>A) c.1173C>A (p.Val391=) c.1269C>A (p.Val423=) c.171+379123C>A (n.171+379123C>A) c.963C>A (p.Val321=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
X | g.37805123C= | CA2424683380 | CYBB | c.*778C= (n.*778C=) c.1173C= (p.Val391=) c.1269C= (p.Val423=) c.171+379123C= (n.171+379123C=) c.963C= (p.Val321=) | |
X | g.37805123C>G | CA515677859 | CYBB | c.*778C>G (n.*778C>G) c.1173C>G (p.Val391=) c.1269C>G (p.Val423=) c.171+379123C>G (n.171+379123C>G) c.963C>G (p.Val321=) | |
X | g.37805123C>T | CA515677861 | CYBB | c.*778C>T (n.*778C>T) c.1173C>T (p.Val391=) c.1269C>T (p.Val423=) c.171+379123C>T (n.171+379123C>T) c.963C>T (p.Val321=) | |
X | g.37805124T>A | CA412977855 | CYBB | c.*779T>A (n.*779T>A) c.1174T>A (p.Trp392Arg) c.1270T>A (p.Trp424Arg) c.171+379124T>A (n.171+379124T>A) c.964T>A (p.Trp322Arg) | |
X | g.37805124T>C | CA412977856 | CYBB | c.*779T>C (n.*779T>C) c.1174T>C (p.Trp392Arg) c.1270T>C (p.Trp424Arg) c.171+379124T>C (n.171+379124T>C) c.964T>C (p.Trp322Arg) | |
X | g.37805124T>G | CA412977857 | CYBB | c.*779T>G (n.*779T>G) c.1174T>G (p.Trp392Gly) c.1270T>G (p.Trp424Gly) c.171+379124T>G (n.171+379124T>G) c.964T>G (p.Trp322Gly) | |
X | g.37805125G>A | CA412977858 | CYBB | c.*780G>A (n.*780G>A) c.1175G>A (p.Trp392Ter) c.1271G>A (p.Trp424Ter) c.171+379125G>A (n.171+379125G>A) c.965G>A (p.Trp322Ter) | ClinVar dbSNP gnomAD v4 |
X | g.37805125G>C | CA412977859 | CYBB | c.*780G>C (n.*780G>C) c.1175G>C (p.Trp392Ser) c.1271G>C (p.Trp424Ser) c.171+379125G>C (n.171+379125G>C) c.965G>C (p.Trp322Ser) | |
X | g.37805125G>T | CA412977860 | CYBB | c.*780G>T (n.*780G>T) c.1175G>T (p.Trp392Leu) c.1271G>T (p.Trp424Leu) c.171+379125G>T (n.171+379125G>T) c.965G>T (p.Trp322Leu) | |
X | g.37805126del | CA2695233210 | CYBB | c.*781del (n.*781del) c.1176del (p.Trp392CysfsTer11) c.1272del (p.Trp424CysfsTer11) c.171+379126del (n.171+379126del) c.966del (p.Trp322CysfsTer11) | |
X | g.37805126G>A | CA10603479 | CYBB | c.*781G>A (n.*781G>A) c.1176G>A (p.Trp392Ter) c.1272G>A (p.Trp424Ter) c.171+379126G>A (n.171+379126G>A) c.966G>A (p.Trp322Ter) | ClinVar dbSNP |
X | g.37805126G>C | CA412977861 | CYBB | c.*781G>C (n.*781G>C) c.1176G>C (p.Trp392Cys) c.1272G>C (p.Trp424Cys) c.171+379126G>C (n.171+379126G>C) c.966G>C (p.Trp322Cys) | |
X | g.37805126G= | CA2424683381 | CYBB | c.*781G= (n.*781G=) c.1176G= (p.Trp392=) c.1272G= (p.Trp424=) c.171+379126G= (n.171+379126G=) c.966G= (p.Trp322=) | |
X | g.37805126G>T | CA412977862 | CYBB | c.*781G>T (n.*781G>T) c.1176G>T (p.Trp392Cys) c.1272G>T (p.Trp424Cys) c.171+379126G>T (n.171+379126G>T) c.966G>T (p.Trp322Cys) | |
X | g.37805127T>A | CA412977863 | CYBB | c.*782T>A (n.*782T>A) c.1177T>A (p.Tyr393Asn) c.1273T>A (p.Tyr425Asn) c.171+379127T>A (n.171+379127T>A) c.967T>A (p.Tyr323Asn) | |
X | g.37805127T>C | CA412977864 | CYBB | c.*782T>C (n.*782T>C) c.1177T>C (p.Tyr393His) c.1273T>C (p.Tyr425His) c.171+379127T>C (n.171+379127T>C) c.967T>C (p.Tyr323His) | |
X | g.37805127T>G | CA412977865 | CYBB | c.*782T>G (n.*782T>G) c.1177T>G (p.Tyr393Asp) c.1273T>G (p.Tyr425Asp) c.171+379127T>G (n.171+379127T>G) c.967T>G (p.Tyr323Asp) | |
X | g.37805128A>C | CA412977868 | CYBB | c.*783A>C (n.*783A>C) c.1178A>C (p.Tyr393Ser) c.1274A>C (p.Tyr425Ser) c.171+379128A>C (n.171+379128A>C) c.968A>C (p.Tyr323Ser) | |
X | g.37805128A>G | CA412977867 | CYBB | c.*783A>G (n.*783A>G) c.1178A>G (p.Tyr393Cys) c.1274A>G (p.Tyr425Cys) c.171+379128A>G (n.171+379128A>G) c.968A>G (p.Tyr323Cys) | gnomAD v4 |
X | g.37805128A>T | CA412977866 | CYBB | c.*783A>T (n.*783A>T) c.1178A>T (p.Tyr393Phe) c.1274A>T (p.Tyr425Phe) c.171+379128A>T (n.171+379128A>T) c.968A>T (p.Tyr323Phe) |