Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53537589T>A | CA413154966 | HUWE1 | c.11888A>T (p.His3963Leu) c.12104A>T (p.His4035Leu) c.2571A>T n.239A>T c.12077A>T (p.His4026Leu) c.12353A>T (p.His4118Leu) c.12350A>T (p.His4117Leu) c.12308A>T (p.His4103Leu) c.12305A>T (p.His4102Leu) c.12302A>T (p.His4101Leu) c.12254A>T (p.His4085Leu) c.11951A>T (p.His3984Leu) c.12485A>T (p.His4162Leu) c.12482A>T (p.His4161Leu) c.12464A>T (p.His4155Leu) c.12440A>T (p.His4147Leu) c.12437A>T (p.His4146Leu) c.12434A>T (p.His4145Leu) c.12386A>T (p.His4129Leu) c.12374A>T (p.His4125Leu) c.12236A>T (p.His4079Leu) c.12083A>T (p.His4028Leu) | |
X | g.53537589T>C | CA413154959 | HUWE1 | c.11888A>G (p.His3963Arg) c.12104A>G (p.His4035Arg) c.2571A>G n.239A>G c.12077A>G (p.His4026Arg) c.12353A>G (p.His4118Arg) c.12350A>G (p.His4117Arg) c.12308A>G (p.His4103Arg) c.12305A>G (p.His4102Arg) c.12302A>G (p.His4101Arg) c.12254A>G (p.His4085Arg) c.11951A>G (p.His3984Arg) c.12485A>G (p.His4162Arg) c.12482A>G (p.His4161Arg) c.12464A>G (p.His4155Arg) c.12440A>G (p.His4147Arg) c.12437A>G (p.His4146Arg) c.12434A>G (p.His4145Arg) c.12386A>G (p.His4129Arg) c.12374A>G (p.His4125Arg) c.12236A>G (p.His4079Arg) c.12083A>G (p.His4028Arg) | |
X | g.53537589T>G | CA413154944 | HUWE1 | c.11888A>C (p.His3963Pro) c.12104A>C (p.His4035Pro) c.2571A>C n.239A>C c.12077A>C (p.His4026Pro) c.12353A>C (p.His4118Pro) c.12350A>C (p.His4117Pro) c.12308A>C (p.His4103Pro) c.12305A>C (p.His4102Pro) c.12302A>C (p.His4101Pro) c.12254A>C (p.His4085Pro) c.11951A>C (p.His3984Pro) c.12485A>C (p.His4162Pro) c.12482A>C (p.His4161Pro) c.12464A>C (p.His4155Pro) c.12440A>C (p.His4147Pro) c.12437A>C (p.His4146Pro) c.12434A>C (p.His4145Pro) c.12386A>C (p.His4129Pro) c.12374A>C (p.His4125Pro) c.12236A>C (p.His4079Pro) c.12083A>C (p.His4028Pro) | |
X | g.53537590G>A | CA413154970 | HUWE1 | c.11887C>T (p.His3963Tyr) c.12103C>T (p.His4035Tyr) c.2570C>T n.238C>T c.12076C>T (p.His4026Tyr) c.12352C>T (p.His4118Tyr) c.12349C>T (p.His4117Tyr) c.12307C>T (p.His4103Tyr) c.12304C>T (p.His4102Tyr) c.12301C>T (p.His4101Tyr) c.12253C>T (p.His4085Tyr) c.11950C>T (p.His3984Tyr) c.12484C>T (p.His4162Tyr) c.12481C>T (p.His4161Tyr) c.12463C>T (p.His4155Tyr) c.12439C>T (p.His4147Tyr) c.12436C>T (p.His4146Tyr) c.12433C>T (p.His4145Tyr) c.12385C>T (p.His4129Tyr) c.12373C>T (p.His4125Tyr) c.12235C>T (p.His4079Tyr) c.12082C>T (p.His4028Tyr) | |
X | g.53537590G>C | CA413154977 | HUWE1 | c.11887C>G (p.His3963Asp) c.12103C>G (p.His4035Asp) c.2570C>G n.238C>G c.12076C>G (p.His4026Asp) c.12352C>G (p.His4118Asp) c.12349C>G (p.His4117Asp) c.12307C>G (p.His4103Asp) c.12304C>G (p.His4102Asp) c.12301C>G (p.His4101Asp) c.12253C>G (p.His4085Asp) c.11950C>G (p.His3984Asp) c.12484C>G (p.His4162Asp) c.12481C>G (p.His4161Asp) c.12463C>G (p.His4155Asp) c.12439C>G (p.His4147Asp) c.12436C>G (p.His4146Asp) c.12433C>G (p.His4145Asp) c.12385C>G (p.His4129Asp) c.12373C>G (p.His4125Asp) c.12235C>G (p.His4079Asp) c.12082C>G (p.His4028Asp) | |
X | g.53537590G>T | CA413154973 | HUWE1 | c.11887C>A (p.His3963Asn) c.12103C>A (p.His4035Asn) c.2570C>A n.238C>A c.12076C>A (p.His4026Asn) c.12352C>A (p.His4118Asn) c.12349C>A (p.His4117Asn) c.12307C>A (p.His4103Asn) c.12304C>A (p.His4102Asn) c.12301C>A (p.His4101Asn) c.12253C>A (p.His4085Asn) c.11950C>A (p.His3984Asn) c.12484C>A (p.His4162Asn) c.12481C>A (p.His4161Asn) c.12463C>A (p.His4155Asn) c.12439C>A (p.His4147Asn) c.12436C>A (p.His4146Asn) c.12433C>A (p.His4145Asn) c.12385C>A (p.His4129Asn) c.12373C>A (p.His4125Asn) c.12235C>A (p.His4079Asn) c.12082C>A (p.His4028Asn) | |
X | g.53537591C>A | CA516423678 | HUWE1 | c.11886G>T (p.Leu3962=) c.12102G>T (p.Leu4034=) c.2569G>T n.237G>T c.12075G>T (p.Leu4025=) c.12351G>T (p.Leu4117=) c.12348G>T (p.Leu4116=) c.12306G>T (p.Leu4102=) c.12303G>T (p.Leu4101=) c.12300G>T (p.Leu4100=) c.12252G>T (p.Leu4084=) c.11949G>T (p.Leu3983=) c.12483G>T (p.Leu4161=) c.12480G>T (p.Leu4160=) c.12462G>T (p.Leu4154=) c.12438G>T (p.Leu4146=) c.12435G>T (p.Leu4145=) c.12432G>T (p.Leu4144=) c.12384G>T (p.Leu4128=) c.12372G>T (p.Leu4124=) c.12234G>T (p.Leu4078=) c.12081G>T (p.Leu4027=) | |
X | g.53537591C= | CA2429870456 | HUWE1 | c.11886G= (p.Leu3962=) c.12102G= (p.Leu4034=) c.2569G= n.237G= c.12075G= (p.Leu4025=) c.12351G= (p.Leu4117=) c.12348G= (p.Leu4116=) c.12306G= (p.Leu4102=) c.12303G= (p.Leu4101=) c.12300G= (p.Leu4100=) c.12252G= (p.Leu4084=) c.11949G= (p.Leu3983=) c.12483G= (p.Leu4161=) c.12480G= (p.Leu4160=) c.12462G= (p.Leu4154=) c.12438G= (p.Leu4146=) c.12435G= (p.Leu4145=) c.12432G= (p.Leu4144=) c.12384G= (p.Leu4128=) c.12372G= (p.Leu4124=) c.12234G= (p.Leu4078=) c.12081G= (p.Leu4027=) | |
X | g.53537591C>G | CA516423679 | HUWE1 | c.11886G>C (p.Leu3962=) c.12102G>C (p.Leu4034=) c.2569G>C n.237G>C c.12075G>C (p.Leu4025=) c.12351G>C (p.Leu4117=) c.12348G>C (p.Leu4116=) c.12306G>C (p.Leu4102=) c.12303G>C (p.Leu4101=) c.12300G>C (p.Leu4100=) c.12252G>C (p.Leu4084=) c.11949G>C (p.Leu3983=) c.12483G>C (p.Leu4161=) c.12480G>C (p.Leu4160=) c.12462G>C (p.Leu4154=) c.12438G>C (p.Leu4146=) c.12435G>C (p.Leu4145=) c.12432G>C (p.Leu4144=) c.12384G>C (p.Leu4128=) c.12372G>C (p.Leu4124=) c.12234G>C (p.Leu4078=) c.12081G>C (p.Leu4027=) | |
X | g.53537591C>T | CA10421280 | HUWE1 | c.11886G>A (p.Leu3962=) c.12102G>A (p.Leu4034=) c.2569G>A n.237G>A c.12075G>A (p.Leu4025=) c.12351G>A (p.Leu4117=) c.12348G>A (p.Leu4116=) c.12306G>A (p.Leu4102=) c.12303G>A (p.Leu4101=) c.12300G>A (p.Leu4100=) c.12252G>A (p.Leu4084=) c.11949G>A (p.Leu3983=) c.12483G>A (p.Leu4161=) c.12480G>A (p.Leu4160=) c.12462G>A (p.Leu4154=) c.12438G>A (p.Leu4146=) c.12435G>A (p.Leu4145=) c.12432G>A (p.Leu4144=) c.12384G>A (p.Leu4128=) c.12372G>A (p.Leu4124=) c.12234G>A (p.Leu4078=) c.12081G>A (p.Leu4027=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53537592A>C | CA413154985 | HUWE1 | c.11885T>G (p.Leu3962Arg) c.12101T>G (p.Leu4034Arg) c.2568T>G n.236T>G c.12074T>G (p.Leu4025Arg) c.12350T>G (p.Leu4117Arg) c.12347T>G (p.Leu4116Arg) c.12305T>G (p.Leu4102Arg) c.12302T>G (p.Leu4101Arg) c.12299T>G (p.Leu4100Arg) c.12251T>G (p.Leu4084Arg) c.11948T>G (p.Leu3983Arg) c.12482T>G (p.Leu4161Arg) c.12479T>G (p.Leu4160Arg) c.12461T>G (p.Leu4154Arg) c.12437T>G (p.Leu4146Arg) c.12434T>G (p.Leu4145Arg) c.12431T>G (p.Leu4144Arg) c.12383T>G (p.Leu4128Arg) c.12371T>G (p.Leu4124Arg) c.12233T>G (p.Leu4078Arg) c.12080T>G (p.Leu4027Arg) | |
X | g.53537592A>G | CA413154989 | HUWE1 | c.11885T>C (p.Leu3962Pro) c.12101T>C (p.Leu4034Pro) c.2568T>C n.236T>C c.12074T>C (p.Leu4025Pro) c.12350T>C (p.Leu4117Pro) c.12347T>C (p.Leu4116Pro) c.12305T>C (p.Leu4102Pro) c.12302T>C (p.Leu4101Pro) c.12299T>C (p.Leu4100Pro) c.12251T>C (p.Leu4084Pro) c.11948T>C (p.Leu3983Pro) c.12482T>C (p.Leu4161Pro) c.12479T>C (p.Leu4160Pro) c.12461T>C (p.Leu4154Pro) c.12437T>C (p.Leu4146Pro) c.12434T>C (p.Leu4145Pro) c.12431T>C (p.Leu4144Pro) c.12383T>C (p.Leu4128Pro) c.12371T>C (p.Leu4124Pro) c.12233T>C (p.Leu4078Pro) c.12080T>C (p.Leu4027Pro) | |
X | g.53537592A>T | CA413155000 | HUWE1 | c.11885T>A (p.Leu3962Gln) c.12101T>A (p.Leu4034Gln) c.2568T>A n.236T>A c.12074T>A (p.Leu4025Gln) c.12350T>A (p.Leu4117Gln) c.12347T>A (p.Leu4116Gln) c.12305T>A (p.Leu4102Gln) c.12302T>A (p.Leu4101Gln) c.12299T>A (p.Leu4100Gln) c.12251T>A (p.Leu4084Gln) c.11948T>A (p.Leu3983Gln) c.12482T>A (p.Leu4161Gln) c.12479T>A (p.Leu4160Gln) c.12461T>A (p.Leu4154Gln) c.12437T>A (p.Leu4146Gln) c.12434T>A (p.Leu4145Gln) c.12431T>A (p.Leu4144Gln) c.12383T>A (p.Leu4128Gln) c.12371T>A (p.Leu4124Gln) c.12233T>A (p.Leu4078Gln) c.12080T>A (p.Leu4027Gln) | |
X | g.53537593G>A | CA516423685 | HUWE1 | c.11884C>T (p.Leu3962=) c.12100C>T (p.Leu4034=) c.2567C>T n.235C>T c.12073C>T (p.Leu4025=) c.12349C>T (p.Leu4117=) c.12346C>T (p.Leu4116=) c.12304C>T (p.Leu4102=) c.12301C>T (p.Leu4101=) c.12298C>T (p.Leu4100=) c.12250C>T (p.Leu4084=) c.11947C>T (p.Leu3983=) c.12481C>T (p.Leu4161=) c.12478C>T (p.Leu4160=) c.12460C>T (p.Leu4154=) c.12436C>T (p.Leu4146=) c.12433C>T (p.Leu4145=) c.12430C>T (p.Leu4144=) c.12382C>T (p.Leu4128=) c.12370C>T (p.Leu4124=) c.12232C>T (p.Leu4078=) c.12079C>T (p.Leu4027=) | COSMIC COSMIC |
X | g.53537593G>C | CA413155017 | HUWE1 | c.11884C>G (p.Leu3962Val) c.12100C>G (p.Leu4034Val) c.2567C>G n.235C>G c.12073C>G (p.Leu4025Val) c.12349C>G (p.Leu4117Val) c.12346C>G (p.Leu4116Val) c.12304C>G (p.Leu4102Val) c.12301C>G (p.Leu4101Val) c.12298C>G (p.Leu4100Val) c.12250C>G (p.Leu4084Val) c.11947C>G (p.Leu3983Val) c.12481C>G (p.Leu4161Val) c.12478C>G (p.Leu4160Val) c.12460C>G (p.Leu4154Val) c.12436C>G (p.Leu4146Val) c.12433C>G (p.Leu4145Val) c.12430C>G (p.Leu4144Val) c.12382C>G (p.Leu4128Val) c.12370C>G (p.Leu4124Val) c.12232C>G (p.Leu4078Val) c.12079C>G (p.Leu4027Val) | |
X | g.53537593G>T | CA413155022 | HUWE1 | c.11884C>A (p.Leu3962Met) c.12100C>A (p.Leu4034Met) c.2567C>A n.235C>A c.12073C>A (p.Leu4025Met) c.12349C>A (p.Leu4117Met) c.12346C>A (p.Leu4116Met) c.12304C>A (p.Leu4102Met) c.12301C>A (p.Leu4101Met) c.12298C>A (p.Leu4100Met) c.12250C>A (p.Leu4084Met) c.11947C>A (p.Leu3983Met) c.12481C>A (p.Leu4161Met) c.12478C>A (p.Leu4160Met) c.12460C>A (p.Leu4154Met) c.12436C>A (p.Leu4146Met) c.12433C>A (p.Leu4145Met) c.12430C>A (p.Leu4144Met) c.12382C>A (p.Leu4128Met) c.12370C>A (p.Leu4124Met) c.12232C>A (p.Leu4078Met) c.12079C>A (p.Leu4027Met) | |
X | g.53537594C>A | CA413155026 | HUWE1 | c.11883G>T (p.Glu3961Asp) c.12099G>T (p.Glu4033Asp) c.2566G>T n.234G>T c.12072G>T (p.Glu4024Asp) c.12348G>T (p.Glu4116Asp) c.12345G>T (p.Glu4115Asp) c.12303G>T (p.Glu4101Asp) c.12300G>T (p.Glu4100Asp) c.12297G>T (p.Glu4099Asp) c.12249G>T (p.Glu4083Asp) c.11946G>T (p.Glu3982Asp) c.12480G>T (p.Glu4160Asp) c.12477G>T (p.Glu4159Asp) c.12459G>T (p.Glu4153Asp) c.12435G>T (p.Glu4145Asp) c.12432G>T (p.Glu4144Asp) c.12429G>T (p.Glu4143Asp) c.12381G>T (p.Glu4127Asp) c.12369G>T (p.Glu4123Asp) c.12231G>T (p.Glu4077Asp) c.12078G>T (p.Glu4026Asp) | |
X | g.53537594C>G | CA413155032 | HUWE1 | c.11883G>C (p.Glu3961Asp) c.12099G>C (p.Glu4033Asp) c.2566G>C n.234G>C c.12072G>C (p.Glu4024Asp) c.12348G>C (p.Glu4116Asp) c.12345G>C (p.Glu4115Asp) c.12303G>C (p.Glu4101Asp) c.12300G>C (p.Glu4100Asp) c.12297G>C (p.Glu4099Asp) c.12249G>C (p.Glu4083Asp) c.11946G>C (p.Glu3982Asp) c.12480G>C (p.Glu4160Asp) c.12477G>C (p.Glu4159Asp) c.12459G>C (p.Glu4153Asp) c.12435G>C (p.Glu4145Asp) c.12432G>C (p.Glu4144Asp) c.12429G>C (p.Glu4143Asp) c.12381G>C (p.Glu4127Asp) c.12369G>C (p.Glu4123Asp) c.12231G>C (p.Glu4077Asp) c.12078G>C (p.Glu4026Asp) | |
X | g.53537594C>T | CA516423694 | HUWE1 | c.11883G>A (p.Glu3961=) c.12099G>A (p.Glu4033=) c.2566G>A n.234G>A c.12072G>A (p.Glu4024=) c.12348G>A (p.Glu4116=) c.12345G>A (p.Glu4115=) c.12303G>A (p.Glu4101=) c.12300G>A (p.Glu4100=) c.12297G>A (p.Glu4099=) c.12249G>A (p.Glu4083=) c.11946G>A (p.Glu3982=) c.12480G>A (p.Glu4160=) c.12477G>A (p.Glu4159=) c.12459G>A (p.Glu4153=) c.12435G>A (p.Glu4145=) c.12432G>A (p.Glu4144=) c.12429G>A (p.Glu4143=) c.12381G>A (p.Glu4127=) c.12369G>A (p.Glu4123=) c.12231G>A (p.Glu4077=) c.12078G>A (p.Glu4026=) | dbSNP gnomAD v4 |
X | g.53537595T>A | CA413155037 | HUWE1 | c.11882A>T (p.Glu3961Val) c.12098A>T (p.Glu4033Val) c.2565A>T n.233A>T c.12071A>T (p.Glu4024Val) c.12347A>T (p.Glu4116Val) c.12344A>T (p.Glu4115Val) c.12302A>T (p.Glu4101Val) c.12299A>T (p.Glu4100Val) c.12296A>T (p.Glu4099Val) c.12248A>T (p.Glu4083Val) c.11945A>T (p.Glu3982Val) c.12479A>T (p.Glu4160Val) c.12476A>T (p.Glu4159Val) c.12458A>T (p.Glu4153Val) c.12434A>T (p.Glu4145Val) c.12431A>T (p.Glu4144Val) c.12428A>T (p.Glu4143Val) c.12380A>T (p.Glu4127Val) c.12368A>T (p.Glu4123Val) c.12230A>T (p.Glu4077Val) c.12077A>T (p.Glu4026Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53537595T>C | CA413155048 | HUWE1 | c.11882A>G (p.Glu3961Gly) c.12098A>G (p.Glu4033Gly) c.2565A>G n.233A>G c.12071A>G (p.Glu4024Gly) c.12347A>G (p.Glu4116Gly) c.12344A>G (p.Glu4115Gly) c.12302A>G (p.Glu4101Gly) c.12299A>G (p.Glu4100Gly) c.12296A>G (p.Glu4099Gly) c.12248A>G (p.Glu4083Gly) c.11945A>G (p.Glu3982Gly) c.12479A>G (p.Glu4160Gly) c.12476A>G (p.Glu4159Gly) c.12458A>G (p.Glu4153Gly) c.12434A>G (p.Glu4145Gly) c.12431A>G (p.Glu4144Gly) c.12428A>G (p.Glu4143Gly) c.12380A>G (p.Glu4127Gly) c.12368A>G (p.Glu4123Gly) c.12230A>G (p.Glu4077Gly) c.12077A>G (p.Glu4026Gly) | |
X | g.53537595T>G | CA413155052 | HUWE1 | c.11882A>C (p.Glu3961Ala) c.12098A>C (p.Glu4033Ala) c.2565A>C n.233A>C c.12071A>C (p.Glu4024Ala) c.12347A>C (p.Glu4116Ala) c.12344A>C (p.Glu4115Ala) c.12302A>C (p.Glu4101Ala) c.12299A>C (p.Glu4100Ala) c.12296A>C (p.Glu4099Ala) c.12248A>C (p.Glu4083Ala) c.11945A>C (p.Glu3982Ala) c.12479A>C (p.Glu4160Ala) c.12476A>C (p.Glu4159Ala) c.12458A>C (p.Glu4153Ala) c.12434A>C (p.Glu4145Ala) c.12431A>C (p.Glu4144Ala) c.12428A>C (p.Glu4143Ala) c.12380A>C (p.Glu4127Ala) c.12368A>C (p.Glu4123Ala) c.12230A>C (p.Glu4077Ala) c.12077A>C (p.Glu4026Ala) | |
X | g.53537595T= | CA2429870457 | HUWE1 | c.11882A= (p.Glu3961=) c.12098A= (p.Glu4033=) c.2565A= n.233A= c.12071A= (p.Glu4024=) c.12347A= (p.Glu4116=) c.12344A= (p.Glu4115=) c.12302A= (p.Glu4101=) c.12299A= (p.Glu4100=) c.12296A= (p.Glu4099=) c.12248A= (p.Glu4083=) c.11945A= (p.Glu3982=) c.12479A= (p.Glu4160=) c.12476A= (p.Glu4159=) c.12458A= (p.Glu4153=) c.12434A= (p.Glu4145=) c.12431A= (p.Glu4144=) c.12428A= (p.Glu4143=) c.12380A= (p.Glu4127=) c.12368A= (p.Glu4123=) c.12230A= (p.Glu4077=) c.12077A= (p.Glu4026=) | |
X | g.53537596C>A | CA413155068 | HUWE1 | c.11881G>T (p.Glu3961Ter) c.12097G>T (p.Glu4033Ter) c.2564G>T n.232G>T c.12070G>T (p.Glu4024Ter) c.12346G>T (p.Glu4116Ter) c.12343G>T (p.Glu4115Ter) c.12301G>T (p.Glu4101Ter) c.12298G>T (p.Glu4100Ter) c.12295G>T (p.Glu4099Ter) c.12247G>T (p.Glu4083Ter) c.11944G>T (p.Glu3982Ter) c.12478G>T (p.Glu4160Ter) c.12475G>T (p.Glu4159Ter) c.12457G>T (p.Glu4153Ter) c.12433G>T (p.Glu4145Ter) c.12430G>T (p.Glu4144Ter) c.12427G>T (p.Glu4143Ter) c.12379G>T (p.Glu4127Ter) c.12367G>T (p.Glu4123Ter) c.12229G>T (p.Glu4077Ter) c.12076G>T (p.Glu4026Ter) | |
X | g.53537596C>G | CA413155066 | HUWE1 | c.11881G>C (p.Glu3961Gln) c.12097G>C (p.Glu4033Gln) c.2564G>C n.232G>C c.12070G>C (p.Glu4024Gln) c.12346G>C (p.Glu4116Gln) c.12343G>C (p.Glu4115Gln) c.12301G>C (p.Glu4101Gln) c.12298G>C (p.Glu4100Gln) c.12295G>C (p.Glu4099Gln) c.12247G>C (p.Glu4083Gln) c.11944G>C (p.Glu3982Gln) c.12478G>C (p.Glu4160Gln) c.12475G>C (p.Glu4159Gln) c.12457G>C (p.Glu4153Gln) c.12433G>C (p.Glu4145Gln) c.12430G>C (p.Glu4144Gln) c.12427G>C (p.Glu4143Gln) c.12379G>C (p.Glu4127Gln) c.12367G>C (p.Glu4123Gln) c.12229G>C (p.Glu4077Gln) c.12076G>C (p.Glu4026Gln) | |
X | g.53537596C>T | CA413155061 | HUWE1 | c.11881G>A (p.Glu3961Lys) c.12097G>A (p.Glu4033Lys) c.2564G>A n.232G>A c.12070G>A (p.Glu4024Lys) c.12346G>A (p.Glu4116Lys) c.12343G>A (p.Glu4115Lys) c.12301G>A (p.Glu4101Lys) c.12298G>A (p.Glu4100Lys) c.12295G>A (p.Glu4099Lys) c.12247G>A (p.Glu4083Lys) c.11944G>A (p.Glu3982Lys) c.12478G>A (p.Glu4160Lys) c.12475G>A (p.Glu4159Lys) c.12457G>A (p.Glu4153Lys) c.12433G>A (p.Glu4145Lys) c.12430G>A (p.Glu4144Lys) c.12427G>A (p.Glu4143Lys) c.12379G>A (p.Glu4127Lys) c.12367G>A (p.Glu4123Lys) c.12229G>A (p.Glu4077Lys) c.12076G>A (p.Glu4026Lys) | |
X | g.53537597A>C | CA516423707 | HUWE1 | c.11880T>G (p.Arg3960=) c.12096T>G (p.Arg4032=) c.2563T>G n.231T>G c.12069T>G (p.Arg4023=) c.12345T>G (p.Arg4115=) c.12342T>G (p.Arg4114=) c.12300T>G (p.Arg4100=) c.12297T>G (p.Arg4099=) c.12294T>G (p.Arg4098=) c.12246T>G (p.Arg4082=) c.11943T>G (p.Arg3981=) c.12477T>G (p.Arg4159=) c.12474T>G (p.Arg4158=) c.12456T>G (p.Arg4152=) c.12432T>G (p.Arg4144=) c.12429T>G (p.Arg4143=) c.12426T>G (p.Arg4142=) c.12378T>G (p.Arg4126=) c.12366T>G (p.Arg4122=) c.12228T>G (p.Arg4076=) c.12075T>G (p.Arg4025=) | |
X | g.53537597A>G | CA516423709 | HUWE1 | c.11880T>C (p.Arg3960=) c.12096T>C (p.Arg4032=) c.2563T>C n.231T>C c.12069T>C (p.Arg4023=) c.12345T>C (p.Arg4115=) c.12342T>C (p.Arg4114=) c.12300T>C (p.Arg4100=) c.12297T>C (p.Arg4099=) c.12294T>C (p.Arg4098=) c.12246T>C (p.Arg4082=) c.11943T>C (p.Arg3981=) c.12477T>C (p.Arg4159=) c.12474T>C (p.Arg4158=) c.12456T>C (p.Arg4152=) c.12432T>C (p.Arg4144=) c.12429T>C (p.Arg4143=) c.12426T>C (p.Arg4142=) c.12378T>C (p.Arg4126=) c.12366T>C (p.Arg4122=) c.12228T>C (p.Arg4076=) c.12075T>C (p.Arg4025=) | |
X | g.53537597A>T | CA516423711 | HUWE1 | c.11880T>A (p.Arg3960=) c.12096T>A (p.Arg4032=) c.2563T>A n.231T>A c.12069T>A (p.Arg4023=) c.12345T>A (p.Arg4115=) c.12342T>A (p.Arg4114=) c.12300T>A (p.Arg4100=) c.12297T>A (p.Arg4099=) c.12294T>A (p.Arg4098=) c.12246T>A (p.Arg4082=) c.11943T>A (p.Arg3981=) c.12477T>A (p.Arg4159=) c.12474T>A (p.Arg4158=) c.12456T>A (p.Arg4152=) c.12432T>A (p.Arg4144=) c.12429T>A (p.Arg4143=) c.12426T>A (p.Arg4142=) c.12378T>A (p.Arg4126=) c.12366T>A (p.Arg4122=) c.12228T>A (p.Arg4076=) c.12075T>A (p.Arg4025=) | |
X | g.53537598C>A | CA413155071 | HUWE1 | c.11879G>T (p.Arg3960Leu) c.12095G>T (p.Arg4032Leu) c.2562G>T n.230G>T c.12068G>T (p.Arg4023Leu) c.12344G>T (p.Arg4115Leu) c.12341G>T (p.Arg4114Leu) c.12299G>T (p.Arg4100Leu) c.12296G>T (p.Arg4099Leu) c.12293G>T (p.Arg4098Leu) c.12245G>T (p.Arg4082Leu) c.11942G>T (p.Arg3981Leu) c.12476G>T (p.Arg4159Leu) c.12473G>T (p.Arg4158Leu) c.12455G>T (p.Arg4152Leu) c.12431G>T (p.Arg4144Leu) c.12428G>T (p.Arg4143Leu) c.12425G>T (p.Arg4142Leu) c.12377G>T (p.Arg4126Leu) c.12365G>T (p.Arg4122Leu) c.12227G>T (p.Arg4076Leu) c.12074G>T (p.Arg4025Leu) | |
X | g.53537598C>G | CA413155073 | HUWE1 | c.11879G>C (p.Arg3960Pro) c.12095G>C (p.Arg4032Pro) c.2562G>C n.230G>C c.12068G>C (p.Arg4023Pro) c.12344G>C (p.Arg4115Pro) c.12341G>C (p.Arg4114Pro) c.12299G>C (p.Arg4100Pro) c.12296G>C (p.Arg4099Pro) c.12293G>C (p.Arg4098Pro) c.12245G>C (p.Arg4082Pro) c.11942G>C (p.Arg3981Pro) c.12476G>C (p.Arg4159Pro) c.12473G>C (p.Arg4158Pro) c.12455G>C (p.Arg4152Pro) c.12431G>C (p.Arg4144Pro) c.12428G>C (p.Arg4143Pro) c.12425G>C (p.Arg4142Pro) c.12377G>C (p.Arg4126Pro) c.12365G>C (p.Arg4122Pro) c.12227G>C (p.Arg4076Pro) c.12074G>C (p.Arg4025Pro) | |
X | g.53537598C>T | CA413155078 | HUWE1 | c.11879G>A (p.Arg3960His) c.12095G>A (p.Arg4032His) c.2562G>A n.230G>A c.12068G>A (p.Arg4023His) c.12344G>A (p.Arg4115His) c.12341G>A (p.Arg4114His) c.12299G>A (p.Arg4100His) c.12296G>A (p.Arg4099His) c.12293G>A (p.Arg4098His) c.12245G>A (p.Arg4082His) c.11942G>A (p.Arg3981His) c.12476G>A (p.Arg4159His) c.12473G>A (p.Arg4158His) c.12455G>A (p.Arg4152His) c.12431G>A (p.Arg4144His) c.12428G>A (p.Arg4143His) c.12425G>A (p.Arg4142His) c.12377G>A (p.Arg4126His) c.12365G>A (p.Arg4122His) c.12227G>A (p.Arg4076His) c.12074G>A (p.Arg4025His) | |
X | g.53537599G>A | CA413155089 | HUWE1 | c.11878C>T (p.Arg3960Cys) c.12094C>T (p.Arg4032Cys) c.2561C>T n.229C>T c.12067C>T (p.Arg4023Cys) c.12343C>T (p.Arg4115Cys) c.12340C>T (p.Arg4114Cys) c.12298C>T (p.Arg4100Cys) c.12295C>T (p.Arg4099Cys) c.12292C>T (p.Arg4098Cys) c.12244C>T (p.Arg4082Cys) c.11941C>T (p.Arg3981Cys) c.12475C>T (p.Arg4159Cys) c.12472C>T (p.Arg4158Cys) c.12454C>T (p.Arg4152Cys) c.12430C>T (p.Arg4144Cys) c.12427C>T (p.Arg4143Cys) c.12424C>T (p.Arg4142Cys) c.12376C>T (p.Arg4126Cys) c.12364C>T (p.Arg4122Cys) c.12226C>T (p.Arg4076Cys) c.12073C>T (p.Arg4025Cys) | COSMIC |
X | g.53537599G>C | CA413155092 | HUWE1 | c.11878C>G (p.Arg3960Gly) c.12094C>G (p.Arg4032Gly) c.2561C>G n.229C>G c.12067C>G (p.Arg4023Gly) c.12343C>G (p.Arg4115Gly) c.12340C>G (p.Arg4114Gly) c.12298C>G (p.Arg4100Gly) c.12295C>G (p.Arg4099Gly) c.12292C>G (p.Arg4098Gly) c.12244C>G (p.Arg4082Gly) c.11941C>G (p.Arg3981Gly) c.12475C>G (p.Arg4159Gly) c.12472C>G (p.Arg4158Gly) c.12454C>G (p.Arg4152Gly) c.12430C>G (p.Arg4144Gly) c.12427C>G (p.Arg4143Gly) c.12424C>G (p.Arg4142Gly) c.12376C>G (p.Arg4126Gly) c.12364C>G (p.Arg4122Gly) c.12226C>G (p.Arg4076Gly) c.12073C>G (p.Arg4025Gly) | |
X | g.53537599G>T | CA413155097 | HUWE1 | c.11878C>A (p.Arg3960Ser) c.12094C>A (p.Arg4032Ser) c.2561C>A n.229C>A c.12067C>A (p.Arg4023Ser) c.12343C>A (p.Arg4115Ser) c.12340C>A (p.Arg4114Ser) c.12298C>A (p.Arg4100Ser) c.12295C>A (p.Arg4099Ser) c.12292C>A (p.Arg4098Ser) c.12244C>A (p.Arg4082Ser) c.11941C>A (p.Arg3981Ser) c.12475C>A (p.Arg4159Ser) c.12472C>A (p.Arg4158Ser) c.12454C>A (p.Arg4152Ser) c.12430C>A (p.Arg4144Ser) c.12427C>A (p.Arg4143Ser) c.12424C>A (p.Arg4142Ser) c.12376C>A (p.Arg4126Ser) c.12364C>A (p.Arg4122Ser) c.12226C>A (p.Arg4076Ser) c.12073C>A (p.Arg4025Ser) | |
X | g.53537600A>C | CA413155116 | HUWE1 | c.11877T>G (p.Tyr3959Ter) c.12093T>G (p.Tyr4031Ter) c.2560T>G n.228T>G c.12066T>G (p.Tyr4022Ter) c.12342T>G (p.Tyr4114Ter) c.12339T>G (p.Tyr4113Ter) c.12297T>G (p.Tyr4099Ter) c.12294T>G (p.Tyr4098Ter) c.12291T>G (p.Tyr4097Ter) c.12243T>G (p.Tyr4081Ter) c.11940T>G (p.Tyr3980Ter) c.12474T>G (p.Tyr4158Ter) c.12471T>G (p.Tyr4157Ter) c.12453T>G (p.Tyr4151Ter) c.12429T>G (p.Tyr4143Ter) c.12426T>G (p.Tyr4142Ter) c.12423T>G (p.Tyr4141Ter) c.12375T>G (p.Tyr4125Ter) c.12363T>G (p.Tyr4121Ter) c.12225T>G (p.Tyr4075Ter) c.12072T>G (p.Tyr4024Ter) | |
X | g.53537600A>G | CA516423721 | HUWE1 | c.11877T>C (p.Tyr3959=) c.12093T>C (p.Tyr4031=) c.2560T>C n.228T>C c.12066T>C (p.Tyr4022=) c.12342T>C (p.Tyr4114=) c.12339T>C (p.Tyr4113=) c.12297T>C (p.Tyr4099=) c.12294T>C (p.Tyr4098=) c.12291T>C (p.Tyr4097=) c.12243T>C (p.Tyr4081=) c.11940T>C (p.Tyr3980=) c.12474T>C (p.Tyr4158=) c.12471T>C (p.Tyr4157=) c.12453T>C (p.Tyr4151=) c.12429T>C (p.Tyr4143=) c.12426T>C (p.Tyr4142=) c.12423T>C (p.Tyr4141=) c.12375T>C (p.Tyr4125=) c.12363T>C (p.Tyr4121=) c.12225T>C (p.Tyr4075=) c.12072T>C (p.Tyr4024=) | |
X | g.53537600A>T | CA413155131 | HUWE1 | c.11877T>A (p.Tyr3959Ter) c.12093T>A (p.Tyr4031Ter) c.2560T>A n.228T>A c.12066T>A (p.Tyr4022Ter) c.12342T>A (p.Tyr4114Ter) c.12339T>A (p.Tyr4113Ter) c.12297T>A (p.Tyr4099Ter) c.12294T>A (p.Tyr4098Ter) c.12291T>A (p.Tyr4097Ter) c.12243T>A (p.Tyr4081Ter) c.11940T>A (p.Tyr3980Ter) c.12474T>A (p.Tyr4158Ter) c.12471T>A (p.Tyr4157Ter) c.12453T>A (p.Tyr4151Ter) c.12429T>A (p.Tyr4143Ter) c.12426T>A (p.Tyr4142Ter) c.12423T>A (p.Tyr4141Ter) c.12375T>A (p.Tyr4125Ter) c.12363T>A (p.Tyr4121Ter) c.12225T>A (p.Tyr4075Ter) c.12072T>A (p.Tyr4024Ter) | |
X | g.53537601T>A | CA413155141 | HUWE1 | c.11876A>T (p.Tyr3959Phe) c.12092A>T (p.Tyr4031Phe) c.2559A>T n.227A>T c.12065A>T (p.Tyr4022Phe) c.12341A>T (p.Tyr4114Phe) c.12338A>T (p.Tyr4113Phe) c.12296A>T (p.Tyr4099Phe) c.12293A>T (p.Tyr4098Phe) c.12290A>T (p.Tyr4097Phe) c.12242A>T (p.Tyr4081Phe) c.11939A>T (p.Tyr3980Phe) c.12473A>T (p.Tyr4158Phe) c.12470A>T (p.Tyr4157Phe) c.12452A>T (p.Tyr4151Phe) c.12428A>T (p.Tyr4143Phe) c.12425A>T (p.Tyr4142Phe) c.12422A>T (p.Tyr4141Phe) c.12374A>T (p.Tyr4125Phe) c.12362A>T (p.Tyr4121Phe) c.12224A>T (p.Tyr4075Phe) c.12071A>T (p.Tyr4024Phe) | |
X | g.53537601T>C | CA413155148 | HUWE1 | c.11876A>G (p.Tyr3959Cys) c.12092A>G (p.Tyr4031Cys) c.2559A>G n.227A>G c.12065A>G (p.Tyr4022Cys) c.12341A>G (p.Tyr4114Cys) c.12338A>G (p.Tyr4113Cys) c.12296A>G (p.Tyr4099Cys) c.12293A>G (p.Tyr4098Cys) c.12290A>G (p.Tyr4097Cys) c.12242A>G (p.Tyr4081Cys) c.11939A>G (p.Tyr3980Cys) c.12473A>G (p.Tyr4158Cys) c.12470A>G (p.Tyr4157Cys) c.12452A>G (p.Tyr4151Cys) c.12428A>G (p.Tyr4143Cys) c.12425A>G (p.Tyr4142Cys) c.12422A>G (p.Tyr4141Cys) c.12374A>G (p.Tyr4125Cys) c.12362A>G (p.Tyr4121Cys) c.12224A>G (p.Tyr4075Cys) c.12071A>G (p.Tyr4024Cys) | |
X | g.53537601T>G | CA413155151 | HUWE1 | c.11876A>C (p.Tyr3959Ser) c.12092A>C (p.Tyr4031Ser) c.2559A>C n.227A>C c.12065A>C (p.Tyr4022Ser) c.12341A>C (p.Tyr4114Ser) c.12338A>C (p.Tyr4113Ser) c.12296A>C (p.Tyr4099Ser) c.12293A>C (p.Tyr4098Ser) c.12290A>C (p.Tyr4097Ser) c.12242A>C (p.Tyr4081Ser) c.11939A>C (p.Tyr3980Ser) c.12473A>C (p.Tyr4158Ser) c.12470A>C (p.Tyr4157Ser) c.12452A>C (p.Tyr4151Ser) c.12428A>C (p.Tyr4143Ser) c.12425A>C (p.Tyr4142Ser) c.12422A>C (p.Tyr4141Ser) c.12374A>C (p.Tyr4125Ser) c.12362A>C (p.Tyr4121Ser) c.12224A>C (p.Tyr4075Ser) c.12071A>C (p.Tyr4024Ser) | |
X | g.53537602A>C | CA413155164 | HUWE1 | c.11875T>G (p.Tyr3959Asp) c.12091T>G (p.Tyr4031Asp) c.2558T>G n.226T>G c.12064T>G (p.Tyr4022Asp) c.12340T>G (p.Tyr4114Asp) c.12337T>G (p.Tyr4113Asp) c.12295T>G (p.Tyr4099Asp) c.12292T>G (p.Tyr4098Asp) c.12289T>G (p.Tyr4097Asp) c.12241T>G (p.Tyr4081Asp) c.11938T>G (p.Tyr3980Asp) c.12472T>G (p.Tyr4158Asp) c.12469T>G (p.Tyr4157Asp) c.12451T>G (p.Tyr4151Asp) c.12427T>G (p.Tyr4143Asp) c.12424T>G (p.Tyr4142Asp) c.12421T>G (p.Tyr4141Asp) c.12373T>G (p.Tyr4125Asp) c.12361T>G (p.Tyr4121Asp) c.12223T>G (p.Tyr4075Asp) c.12070T>G (p.Tyr4024Asp) | |
X | g.53537602A>G | CA413155162 | HUWE1 | c.11875T>C (p.Tyr3959His) c.12091T>C (p.Tyr4031His) c.2558T>C n.226T>C c.12064T>C (p.Tyr4022His) c.12340T>C (p.Tyr4114His) c.12337T>C (p.Tyr4113His) c.12295T>C (p.Tyr4099His) c.12292T>C (p.Tyr4098His) c.12289T>C (p.Tyr4097His) c.12241T>C (p.Tyr4081His) c.11938T>C (p.Tyr3980His) c.12472T>C (p.Tyr4158His) c.12469T>C (p.Tyr4157His) c.12451T>C (p.Tyr4151His) c.12427T>C (p.Tyr4143His) c.12424T>C (p.Tyr4142His) c.12421T>C (p.Tyr4141His) c.12373T>C (p.Tyr4125His) c.12361T>C (p.Tyr4121His) c.12223T>C (p.Tyr4075His) c.12070T>C (p.Tyr4024His) | |
X | g.53537602A>T | CA413155160 | HUWE1 | c.11875T>A (p.Tyr3959Asn) c.12091T>A (p.Tyr4031Asn) c.2558T>A n.226T>A c.12064T>A (p.Tyr4022Asn) c.12340T>A (p.Tyr4114Asn) c.12337T>A (p.Tyr4113Asn) c.12295T>A (p.Tyr4099Asn) c.12292T>A (p.Tyr4098Asn) c.12289T>A (p.Tyr4097Asn) c.12241T>A (p.Tyr4081Asn) c.11938T>A (p.Tyr3980Asn) c.12472T>A (p.Tyr4158Asn) c.12469T>A (p.Tyr4157Asn) c.12451T>A (p.Tyr4151Asn) c.12427T>A (p.Tyr4143Asn) c.12424T>A (p.Tyr4142Asn) c.12421T>A (p.Tyr4141Asn) c.12373T>A (p.Tyr4125Asn) c.12361T>A (p.Tyr4121Asn) c.12223T>A (p.Tyr4075Asn) c.12070T>A (p.Tyr4024Asn) | |
X | g.53537603G>A | CA516423738 | HUWE1 | c.11874C>T (p.Ser3958=) c.12090C>T (p.Ser4030=) c.2557C>T n.225C>T c.12063C>T (p.Ser4021=) c.12339C>T (p.Ser4113=) c.12336C>T (p.Ser4112=) c.12294C>T (p.Ser4098=) c.12291C>T (p.Ser4097=) c.12288C>T (p.Ser4096=) c.12240C>T (p.Ser4080=) c.11937C>T (p.Ser3979=) c.12471C>T (p.Ser4157=) c.12468C>T (p.Ser4156=) c.12450C>T (p.Ser4150=) c.12426C>T (p.Ser4142=) c.12423C>T (p.Ser4141=) c.12420C>T (p.Ser4140=) c.12372C>T (p.Ser4124=) c.12360C>T (p.Ser4120=) c.12222C>T (p.Ser4074=) c.12069C>T (p.Ser4023=) | |
X | g.53537603G>C | CA516423734 | HUWE1 | c.11874C>G (p.Ser3958=) c.12090C>G (p.Ser4030=) c.2557C>G n.225C>G c.12063C>G (p.Ser4021=) c.12339C>G (p.Ser4113=) c.12336C>G (p.Ser4112=) c.12294C>G (p.Ser4098=) c.12291C>G (p.Ser4097=) c.12288C>G (p.Ser4096=) c.12240C>G (p.Ser4080=) c.11937C>G (p.Ser3979=) c.12471C>G (p.Ser4157=) c.12468C>G (p.Ser4156=) c.12450C>G (p.Ser4150=) c.12426C>G (p.Ser4142=) c.12423C>G (p.Ser4141=) c.12420C>G (p.Ser4140=) c.12372C>G (p.Ser4124=) c.12360C>G (p.Ser4120=) c.12222C>G (p.Ser4074=) c.12069C>G (p.Ser4023=) | |
X | g.53537603G>T | CA516423736 | HUWE1 | c.11874C>A (p.Ser3958=) c.12090C>A (p.Ser4030=) c.2557C>A n.225C>A c.12063C>A (p.Ser4021=) c.12339C>A (p.Ser4113=) c.12336C>A (p.Ser4112=) c.12294C>A (p.Ser4098=) c.12291C>A (p.Ser4097=) c.12288C>A (p.Ser4096=) c.12240C>A (p.Ser4080=) c.11937C>A (p.Ser3979=) c.12471C>A (p.Ser4157=) c.12468C>A (p.Ser4156=) c.12450C>A (p.Ser4150=) c.12426C>A (p.Ser4142=) c.12423C>A (p.Ser4141=) c.12420C>A (p.Ser4140=) c.12372C>A (p.Ser4124=) c.12360C>A (p.Ser4120=) c.12222C>A (p.Ser4074=) c.12069C>A (p.Ser4023=) | |
X | g.53537604G>A | CA413155168 | HUWE1 | c.11873C>T (p.Ser3958Phe) c.12089C>T (p.Ser4030Phe) c.2556C>T n.224C>T c.12062C>T (p.Ser4021Phe) c.12338C>T (p.Ser4113Phe) c.12335C>T (p.Ser4112Phe) c.12293C>T (p.Ser4098Phe) c.12290C>T (p.Ser4097Phe) c.12287C>T (p.Ser4096Phe) c.12239C>T (p.Ser4080Phe) c.11936C>T (p.Ser3979Phe) c.12470C>T (p.Ser4157Phe) c.12467C>T (p.Ser4156Phe) c.12449C>T (p.Ser4150Phe) c.12425C>T (p.Ser4142Phe) c.12422C>T (p.Ser4141Phe) c.12419C>T (p.Ser4140Phe) c.12371C>T (p.Ser4124Phe) c.12359C>T (p.Ser4120Phe) c.12221C>T (p.Ser4074Phe) c.12068C>T (p.Ser4023Phe) | |
X | g.53537604G>C | CA413155186 | HUWE1 | c.11873C>G (p.Ser3958Cys) c.12089C>G (p.Ser4030Cys) c.2556C>G n.224C>G c.12062C>G (p.Ser4021Cys) c.12338C>G (p.Ser4113Cys) c.12335C>G (p.Ser4112Cys) c.12293C>G (p.Ser4098Cys) c.12290C>G (p.Ser4097Cys) c.12287C>G (p.Ser4096Cys) c.12239C>G (p.Ser4080Cys) c.11936C>G (p.Ser3979Cys) c.12470C>G (p.Ser4157Cys) c.12467C>G (p.Ser4156Cys) c.12449C>G (p.Ser4150Cys) c.12425C>G (p.Ser4142Cys) c.12422C>G (p.Ser4141Cys) c.12419C>G (p.Ser4140Cys) c.12371C>G (p.Ser4124Cys) c.12359C>G (p.Ser4120Cys) c.12221C>G (p.Ser4074Cys) c.12068C>G (p.Ser4023Cys) | |
X | g.53537604G>T | CA413155190 | HUWE1 | c.11873C>A (p.Ser3958Tyr) c.12089C>A (p.Ser4030Tyr) c.2556C>A n.224C>A c.12062C>A (p.Ser4021Tyr) c.12338C>A (p.Ser4113Tyr) c.12335C>A (p.Ser4112Tyr) c.12293C>A (p.Ser4098Tyr) c.12290C>A (p.Ser4097Tyr) c.12287C>A (p.Ser4096Tyr) c.12239C>A (p.Ser4080Tyr) c.11936C>A (p.Ser3979Tyr) c.12470C>A (p.Ser4157Tyr) c.12467C>A (p.Ser4156Tyr) c.12449C>A (p.Ser4150Tyr) c.12425C>A (p.Ser4142Tyr) c.12422C>A (p.Ser4141Tyr) c.12419C>A (p.Ser4140Tyr) c.12371C>A (p.Ser4124Tyr) c.12359C>A (p.Ser4120Tyr) c.12221C>A (p.Ser4074Tyr) c.12068C>A (p.Ser4023Tyr) | |
X | g.53537605A>C | CA413155196 | HUWE1 | c.11872T>G (p.Ser3958Ala) c.12088T>G (p.Ser4030Ala) c.2555T>G n.223T>G c.12061T>G (p.Ser4021Ala) c.12337T>G (p.Ser4113Ala) c.12334T>G (p.Ser4112Ala) c.12292T>G (p.Ser4098Ala) c.12289T>G (p.Ser4097Ala) c.12286T>G (p.Ser4096Ala) c.12238T>G (p.Ser4080Ala) c.11935T>G (p.Ser3979Ala) c.12469T>G (p.Ser4157Ala) c.12466T>G (p.Ser4156Ala) c.12448T>G (p.Ser4150Ala) c.12424T>G (p.Ser4142Ala) c.12421T>G (p.Ser4141Ala) c.12418T>G (p.Ser4140Ala) c.12370T>G (p.Ser4124Ala) c.12358T>G (p.Ser4120Ala) c.12220T>G (p.Ser4074Ala) c.12067T>G (p.Ser4023Ala) | |
X | g.53537605A>G | CA413155203 | HUWE1 | c.11872T>C (p.Ser3958Pro) c.12088T>C (p.Ser4030Pro) c.2555T>C n.223T>C c.12061T>C (p.Ser4021Pro) c.12337T>C (p.Ser4113Pro) c.12334T>C (p.Ser4112Pro) c.12292T>C (p.Ser4098Pro) c.12289T>C (p.Ser4097Pro) c.12286T>C (p.Ser4096Pro) c.12238T>C (p.Ser4080Pro) c.11935T>C (p.Ser3979Pro) c.12469T>C (p.Ser4157Pro) c.12466T>C (p.Ser4156Pro) c.12448T>C (p.Ser4150Pro) c.12424T>C (p.Ser4142Pro) c.12421T>C (p.Ser4141Pro) c.12418T>C (p.Ser4140Pro) c.12370T>C (p.Ser4124Pro) c.12358T>C (p.Ser4120Pro) c.12220T>C (p.Ser4074Pro) c.12067T>C (p.Ser4023Pro) | |
X | g.53537605A>T | CA413155211 | HUWE1 | c.11872T>A (p.Ser3958Thr) c.12088T>A (p.Ser4030Thr) c.2555T>A n.223T>A c.12061T>A (p.Ser4021Thr) c.12337T>A (p.Ser4113Thr) c.12334T>A (p.Ser4112Thr) c.12292T>A (p.Ser4098Thr) c.12289T>A (p.Ser4097Thr) c.12286T>A (p.Ser4096Thr) c.12238T>A (p.Ser4080Thr) c.11935T>A (p.Ser3979Thr) c.12469T>A (p.Ser4157Thr) c.12466T>A (p.Ser4156Thr) c.12448T>A (p.Ser4150Thr) c.12424T>A (p.Ser4142Thr) c.12421T>A (p.Ser4141Thr) c.12418T>A (p.Ser4140Thr) c.12370T>A (p.Ser4124Thr) c.12358T>A (p.Ser4120Thr) c.12220T>A (p.Ser4074Thr) c.12067T>A (p.Ser4023Thr) | |
X | g.53537606G>A | CA329184690 | HUWE1 | c.11871C>T (p.Asp3957=) c.12087C>T (p.Asp4029=) c.2554C>T n.222C>T c.12060C>T (p.Asp4020=) c.12336C>T (p.Asp4112=) c.12333C>T (p.Asp4111=) c.12291C>T (p.Asp4097=) c.12288C>T (p.Asp4096=) c.12285C>T (p.Asp4095=) c.12237C>T (p.Asp4079=) c.11934C>T (p.Asp3978=) c.12468C>T (p.Asp4156=) c.12465C>T (p.Asp4155=) c.12447C>T (p.Asp4149=) c.12423C>T (p.Asp4141=) c.12420C>T (p.Asp4140=) c.12417C>T (p.Asp4139=) c.12369C>T (p.Asp4123=) c.12357C>T (p.Asp4119=) c.12219C>T (p.Asp4073=) c.12066C>T (p.Asp4022=) | dbSNP |
X | g.53537606G>C | CA413155221 | HUWE1 | c.11871C>G (p.Asp3957Glu) c.12087C>G (p.Asp4029Glu) c.2554C>G n.222C>G c.12060C>G (p.Asp4020Glu) c.12336C>G (p.Asp4112Glu) c.12333C>G (p.Asp4111Glu) c.12291C>G (p.Asp4097Glu) c.12288C>G (p.Asp4096Glu) c.12285C>G (p.Asp4095Glu) c.12237C>G (p.Asp4079Glu) c.11934C>G (p.Asp3978Glu) c.12468C>G (p.Asp4156Glu) c.12465C>G (p.Asp4155Glu) c.12447C>G (p.Asp4149Glu) c.12423C>G (p.Asp4141Glu) c.12420C>G (p.Asp4140Glu) c.12417C>G (p.Asp4139Glu) c.12369C>G (p.Asp4123Glu) c.12357C>G (p.Asp4119Glu) c.12219C>G (p.Asp4073Glu) c.12066C>G (p.Asp4022Glu) | |
X | g.53537606G= | CA2429870458 | HUWE1 | c.11871C= (p.Asp3957=) c.12087C= (p.Asp4029=) c.2554C= n.222C= c.12060C= (p.Asp4020=) c.12336C= (p.Asp4112=) c.12333C= (p.Asp4111=) c.12291C= (p.Asp4097=) c.12288C= (p.Asp4096=) c.12285C= (p.Asp4095=) c.12237C= (p.Asp4079=) c.11934C= (p.Asp3978=) c.12468C= (p.Asp4156=) c.12465C= (p.Asp4155=) c.12447C= (p.Asp4149=) c.12423C= (p.Asp4141=) c.12420C= (p.Asp4140=) c.12417C= (p.Asp4139=) c.12369C= (p.Asp4123=) c.12357C= (p.Asp4119=) c.12219C= (p.Asp4073=) c.12066C= (p.Asp4022=) | |
X | g.53537606G>T | CA413155228 | HUWE1 | c.11871C>A (p.Asp3957Glu) c.12087C>A (p.Asp4029Glu) c.2554C>A n.222C>A c.12060C>A (p.Asp4020Glu) c.12336C>A (p.Asp4112Glu) c.12333C>A (p.Asp4111Glu) c.12291C>A (p.Asp4097Glu) c.12288C>A (p.Asp4096Glu) c.12285C>A (p.Asp4095Glu) c.12237C>A (p.Asp4079Glu) c.11934C>A (p.Asp3978Glu) c.12468C>A (p.Asp4156Glu) c.12465C>A (p.Asp4155Glu) c.12447C>A (p.Asp4149Glu) c.12423C>A (p.Asp4141Glu) c.12420C>A (p.Asp4140Glu) c.12417C>A (p.Asp4139Glu) c.12369C>A (p.Asp4123Glu) c.12357C>A (p.Asp4119Glu) c.12219C>A (p.Asp4073Glu) c.12066C>A (p.Asp4022Glu) | |
X | g.53537607T>A | CA413155234 | HUWE1 | c.11870A>T (p.Asp3957Val) c.12086A>T (p.Asp4029Val) c.2553A>T n.221A>T c.12059A>T (p.Asp4020Val) c.12335A>T (p.Asp4112Val) c.12332A>T (p.Asp4111Val) c.12290A>T (p.Asp4097Val) c.12287A>T (p.Asp4096Val) c.12284A>T (p.Asp4095Val) c.12236A>T (p.Asp4079Val) c.11933A>T (p.Asp3978Val) c.12467A>T (p.Asp4156Val) c.12464A>T (p.Asp4155Val) c.12446A>T (p.Asp4149Val) c.12422A>T (p.Asp4141Val) c.12419A>T (p.Asp4140Val) c.12416A>T (p.Asp4139Val) c.12368A>T (p.Asp4123Val) c.12356A>T (p.Asp4119Val) c.12218A>T (p.Asp4073Val) c.12065A>T (p.Asp4022Val) | |
X | g.53537607T>C | CA413155240 | HUWE1 | c.11870A>G (p.Asp3957Gly) c.12086A>G (p.Asp4029Gly) c.2553A>G n.221A>G c.12059A>G (p.Asp4020Gly) c.12335A>G (p.Asp4112Gly) c.12332A>G (p.Asp4111Gly) c.12290A>G (p.Asp4097Gly) c.12287A>G (p.Asp4096Gly) c.12284A>G (p.Asp4095Gly) c.12236A>G (p.Asp4079Gly) c.11933A>G (p.Asp3978Gly) c.12467A>G (p.Asp4156Gly) c.12464A>G (p.Asp4155Gly) c.12446A>G (p.Asp4149Gly) c.12422A>G (p.Asp4141Gly) c.12419A>G (p.Asp4140Gly) c.12416A>G (p.Asp4139Gly) c.12368A>G (p.Asp4123Gly) c.12356A>G (p.Asp4119Gly) c.12218A>G (p.Asp4073Gly) c.12065A>G (p.Asp4022Gly) | |
X | g.53537607T>G | CA413155245 | HUWE1 | c.11870A>C (p.Asp3957Ala) c.12086A>C (p.Asp4029Ala) c.2553A>C n.221A>C c.12059A>C (p.Asp4020Ala) c.12335A>C (p.Asp4112Ala) c.12332A>C (p.Asp4111Ala) c.12290A>C (p.Asp4097Ala) c.12287A>C (p.Asp4096Ala) c.12284A>C (p.Asp4095Ala) c.12236A>C (p.Asp4079Ala) c.11933A>C (p.Asp3978Ala) c.12467A>C (p.Asp4156Ala) c.12464A>C (p.Asp4155Ala) c.12446A>C (p.Asp4149Ala) c.12422A>C (p.Asp4141Ala) c.12419A>C (p.Asp4140Ala) c.12416A>C (p.Asp4139Ala) c.12368A>C (p.Asp4123Ala) c.12356A>C (p.Asp4119Ala) c.12218A>C (p.Asp4073Ala) c.12065A>C (p.Asp4022Ala) | |
X | g.53537608C>A | CA413155249 | HUWE1 | c.11869G>T (p.Asp3957Tyr) c.12085G>T (p.Asp4029Tyr) c.2552G>T n.220G>T c.12058G>T (p.Asp4020Tyr) c.12334G>T (p.Asp4112Tyr) c.12331G>T (p.Asp4111Tyr) c.12289G>T (p.Asp4097Tyr) c.12286G>T (p.Asp4096Tyr) c.12283G>T (p.Asp4095Tyr) c.12235G>T (p.Asp4079Tyr) c.11932G>T (p.Asp3978Tyr) c.12466G>T (p.Asp4156Tyr) c.12463G>T (p.Asp4155Tyr) c.12445G>T (p.Asp4149Tyr) c.12421G>T (p.Asp4141Tyr) c.12418G>T (p.Asp4140Tyr) c.12415G>T (p.Asp4139Tyr) c.12367G>T (p.Asp4123Tyr) c.12355G>T (p.Asp4119Tyr) c.12217G>T (p.Asp4073Tyr) c.12064G>T (p.Asp4022Tyr) | |
X | g.53537608C>G | CA413155247 | HUWE1 | c.11869G>C (p.Asp3957His) c.12085G>C (p.Asp4029His) c.2552G>C n.220G>C c.12058G>C (p.Asp4020His) c.12334G>C (p.Asp4112His) c.12331G>C (p.Asp4111His) c.12289G>C (p.Asp4097His) c.12286G>C (p.Asp4096His) c.12283G>C (p.Asp4095His) c.12235G>C (p.Asp4079His) c.11932G>C (p.Asp3978His) c.12466G>C (p.Asp4156His) c.12463G>C (p.Asp4155His) c.12445G>C (p.Asp4149His) c.12421G>C (p.Asp4141His) c.12418G>C (p.Asp4140His) c.12415G>C (p.Asp4139His) c.12367G>C (p.Asp4123His) c.12355G>C (p.Asp4119His) c.12217G>C (p.Asp4073His) c.12064G>C (p.Asp4022His) | |
X | g.53537608C>T | CA413155246 | HUWE1 | c.11869G>A (p.Asp3957Asn) c.12085G>A (p.Asp4029Asn) c.2552G>A n.220G>A c.12058G>A (p.Asp4020Asn) c.12334G>A (p.Asp4112Asn) c.12331G>A (p.Asp4111Asn) c.12289G>A (p.Asp4097Asn) c.12286G>A (p.Asp4096Asn) c.12283G>A (p.Asp4095Asn) c.12235G>A (p.Asp4079Asn) c.11932G>A (p.Asp3978Asn) c.12466G>A (p.Asp4156Asn) c.12463G>A (p.Asp4155Asn) c.12445G>A (p.Asp4149Asn) c.12421G>A (p.Asp4141Asn) c.12418G>A (p.Asp4140Asn) c.12415G>A (p.Asp4139Asn) c.12367G>A (p.Asp4123Asn) c.12355G>A (p.Asp4119Asn) c.12217G>A (p.Asp4073Asn) c.12064G>A (p.Asp4022Asn) | |
X | g.53537609T>A | CA413155256 | HUWE1 | c.11868A>T (p.Glu3956Asp) c.12084A>T (p.Glu4028Asp) c.2551A>T n.219A>T c.12057A>T (p.Glu4019Asp) c.12333A>T (p.Glu4111Asp) c.12330A>T (p.Glu4110Asp) c.12288A>T (p.Glu4096Asp) c.12285A>T (p.Glu4095Asp) c.12282A>T (p.Glu4094Asp) c.12234A>T (p.Glu4078Asp) c.11931A>T (p.Glu3977Asp) c.12465A>T (p.Glu4155Asp) c.12462A>T (p.Glu4154Asp) c.12444A>T (p.Glu4148Asp) c.12420A>T (p.Glu4140Asp) c.12417A>T (p.Glu4139Asp) c.12414A>T (p.Glu4138Asp) c.12366A>T (p.Glu4122Asp) c.12354A>T (p.Glu4118Asp) c.12216A>T (p.Glu4072Asp) c.12063A>T (p.Glu4021Asp) | |
X | g.53537609T>C | CA516423758 | HUWE1 | c.11868A>G (p.Glu3956=) c.12084A>G (p.Glu4028=) c.2551A>G n.219A>G c.12057A>G (p.Glu4019=) c.12333A>G (p.Glu4111=) c.12330A>G (p.Glu4110=) c.12288A>G (p.Glu4096=) c.12285A>G (p.Glu4095=) c.12282A>G (p.Glu4094=) c.12234A>G (p.Glu4078=) c.11931A>G (p.Glu3977=) c.12465A>G (p.Glu4155=) c.12462A>G (p.Glu4154=) c.12444A>G (p.Glu4148=) c.12420A>G (p.Glu4140=) c.12417A>G (p.Glu4139=) c.12414A>G (p.Glu4138=) c.12366A>G (p.Glu4122=) c.12354A>G (p.Glu4118=) c.12216A>G (p.Glu4072=) c.12063A>G (p.Glu4021=) | |
X | g.53537609T>G | CA413155258 | HUWE1 | c.11868A>C (p.Glu3956Asp) c.12084A>C (p.Glu4028Asp) c.2551A>C n.219A>C c.12057A>C (p.Glu4019Asp) c.12333A>C (p.Glu4111Asp) c.12330A>C (p.Glu4110Asp) c.12288A>C (p.Glu4096Asp) c.12285A>C (p.Glu4095Asp) c.12282A>C (p.Glu4094Asp) c.12234A>C (p.Glu4078Asp) c.11931A>C (p.Glu3977Asp) c.12465A>C (p.Glu4155Asp) c.12462A>C (p.Glu4154Asp) c.12444A>C (p.Glu4148Asp) c.12420A>C (p.Glu4140Asp) c.12417A>C (p.Glu4139Asp) c.12414A>C (p.Glu4138Asp) c.12366A>C (p.Glu4122Asp) c.12354A>C (p.Glu4118Asp) c.12216A>C (p.Glu4072Asp) c.12063A>C (p.Glu4021Asp) | |
X | g.53537610T>A | CA413155265 | HUWE1 | c.11867A>T (p.Glu3956Val) c.12083A>T (p.Glu4028Val) c.2550A>T n.218A>T c.12056A>T (p.Glu4019Val) c.12332A>T (p.Glu4111Val) c.12329A>T (p.Glu4110Val) c.12287A>T (p.Glu4096Val) c.12284A>T (p.Glu4095Val) c.12281A>T (p.Glu4094Val) c.12233A>T (p.Glu4078Val) c.11930A>T (p.Glu3977Val) c.12464A>T (p.Glu4155Val) c.12461A>T (p.Glu4154Val) c.12443A>T (p.Glu4148Val) c.12419A>T (p.Glu4140Val) c.12416A>T (p.Glu4139Val) c.12413A>T (p.Glu4138Val) c.12365A>T (p.Glu4122Val) c.12353A>T (p.Glu4118Val) c.12215A>T (p.Glu4072Val) c.12062A>T (p.Glu4021Val) | |
X | g.53537610T>C | CA413155266 | HUWE1 | c.11867A>G (p.Glu3956Gly) c.12083A>G (p.Glu4028Gly) c.2550A>G n.218A>G c.12056A>G (p.Glu4019Gly) c.12332A>G (p.Glu4111Gly) c.12329A>G (p.Glu4110Gly) c.12287A>G (p.Glu4096Gly) c.12284A>G (p.Glu4095Gly) c.12281A>G (p.Glu4094Gly) c.12233A>G (p.Glu4078Gly) c.11930A>G (p.Glu3977Gly) c.12464A>G (p.Glu4155Gly) c.12461A>G (p.Glu4154Gly) c.12443A>G (p.Glu4148Gly) c.12419A>G (p.Glu4140Gly) c.12416A>G (p.Glu4139Gly) c.12413A>G (p.Glu4138Gly) c.12365A>G (p.Glu4122Gly) c.12353A>G (p.Glu4118Gly) c.12215A>G (p.Glu4072Gly) c.12062A>G (p.Glu4021Gly) | |
X | g.53537610T>G | CA413155267 | HUWE1 | c.11867A>C (p.Glu3956Ala) c.12083A>C (p.Glu4028Ala) c.2550A>C n.218A>C c.12056A>C (p.Glu4019Ala) c.12332A>C (p.Glu4111Ala) c.12329A>C (p.Glu4110Ala) c.12287A>C (p.Glu4096Ala) c.12284A>C (p.Glu4095Ala) c.12281A>C (p.Glu4094Ala) c.12233A>C (p.Glu4078Ala) c.11930A>C (p.Glu3977Ala) c.12464A>C (p.Glu4155Ala) c.12461A>C (p.Glu4154Ala) c.12443A>C (p.Glu4148Ala) c.12419A>C (p.Glu4140Ala) c.12416A>C (p.Glu4139Ala) c.12413A>C (p.Glu4138Ala) c.12365A>C (p.Glu4122Ala) c.12353A>C (p.Glu4118Ala) c.12215A>C (p.Glu4072Ala) c.12062A>C (p.Glu4021Ala) | |
X | g.53537611C>A | CA413155268 | HUWE1 | c.11866G>T (p.Glu3956Ter) c.12082G>T (p.Glu4028Ter) c.2549G>T n.217G>T c.12055G>T (p.Glu4019Ter) c.12331G>T (p.Glu4111Ter) c.12328G>T (p.Glu4110Ter) c.12286G>T (p.Glu4096Ter) c.12283G>T (p.Glu4095Ter) c.12280G>T (p.Glu4094Ter) c.12232G>T (p.Glu4078Ter) c.11929G>T (p.Glu3977Ter) c.12463G>T (p.Glu4155Ter) c.12460G>T (p.Glu4154Ter) c.12442G>T (p.Glu4148Ter) c.12418G>T (p.Glu4140Ter) c.12415G>T (p.Glu4139Ter) c.12412G>T (p.Glu4138Ter) c.12364G>T (p.Glu4122Ter) c.12352G>T (p.Glu4118Ter) c.12214G>T (p.Glu4072Ter) c.12061G>T (p.Glu4021Ter) | |
X | g.53537611C>G | CA413155272 | HUWE1 | c.11866G>C (p.Glu3956Gln) c.12082G>C (p.Glu4028Gln) c.2549G>C n.217G>C c.12055G>C (p.Glu4019Gln) c.12331G>C (p.Glu4111Gln) c.12328G>C (p.Glu4110Gln) c.12286G>C (p.Glu4096Gln) c.12283G>C (p.Glu4095Gln) c.12280G>C (p.Glu4094Gln) c.12232G>C (p.Glu4078Gln) c.11929G>C (p.Glu3977Gln) c.12463G>C (p.Glu4155Gln) c.12460G>C (p.Glu4154Gln) c.12442G>C (p.Glu4148Gln) c.12418G>C (p.Glu4140Gln) c.12415G>C (p.Glu4139Gln) c.12412G>C (p.Glu4138Gln) c.12364G>C (p.Glu4122Gln) c.12352G>C (p.Glu4118Gln) c.12214G>C (p.Glu4072Gln) c.12061G>C (p.Glu4021Gln) | |
X | g.53537611C>T | CA413155274 | HUWE1 | c.11866G>A (p.Glu3956Lys) c.12082G>A (p.Glu4028Lys) c.2549G>A n.217G>A c.12055G>A (p.Glu4019Lys) c.12331G>A (p.Glu4111Lys) c.12328G>A (p.Glu4110Lys) c.12286G>A (p.Glu4096Lys) c.12283G>A (p.Glu4095Lys) c.12280G>A (p.Glu4094Lys) c.12232G>A (p.Glu4078Lys) c.11929G>A (p.Glu3977Lys) c.12463G>A (p.Glu4155Lys) c.12460G>A (p.Glu4154Lys) c.12442G>A (p.Glu4148Lys) c.12418G>A (p.Glu4140Lys) c.12415G>A (p.Glu4139Lys) c.12412G>A (p.Glu4138Lys) c.12364G>A (p.Glu4122Lys) c.12352G>A (p.Glu4118Lys) c.12214G>A (p.Glu4072Lys) c.12061G>A (p.Glu4021Lys) | |
X | g.53537612A>C | CA413155282 | HUWE1 | c.11865T>G (p.Phe3955Leu) c.12081T>G (p.Phe4027Leu) c.2548T>G n.216T>G c.12054T>G (p.Phe4018Leu) c.12330T>G (p.Phe4110Leu) c.12327T>G (p.Phe4109Leu) c.12285T>G (p.Phe4095Leu) c.12282T>G (p.Phe4094Leu) c.12279T>G (p.Phe4093Leu) c.12231T>G (p.Phe4077Leu) c.11928T>G (p.Phe3976Leu) c.12462T>G (p.Phe4154Leu) c.12459T>G (p.Phe4153Leu) c.12441T>G (p.Phe4147Leu) c.12417T>G (p.Phe4139Leu) c.12414T>G (p.Phe4138Leu) c.12411T>G (p.Phe4137Leu) c.12363T>G (p.Phe4121Leu) c.12351T>G (p.Phe4117Leu) c.12213T>G (p.Phe4071Leu) c.12060T>G (p.Phe4020Leu) | |
X | g.53537612A>G | CA516423772 | HUWE1 | c.11865T>C (p.Phe3955=) c.12081T>C (p.Phe4027=) c.2548T>C n.216T>C c.12054T>C (p.Phe4018=) c.12330T>C (p.Phe4110=) c.12327T>C (p.Phe4109=) c.12285T>C (p.Phe4095=) c.12282T>C (p.Phe4094=) c.12279T>C (p.Phe4093=) c.12231T>C (p.Phe4077=) c.11928T>C (p.Phe3976=) c.12462T>C (p.Phe4154=) c.12459T>C (p.Phe4153=) c.12441T>C (p.Phe4147=) c.12417T>C (p.Phe4139=) c.12414T>C (p.Phe4138=) c.12411T>C (p.Phe4137=) c.12363T>C (p.Phe4121=) c.12351T>C (p.Phe4117=) c.12213T>C (p.Phe4071=) c.12060T>C (p.Phe4020=) | |
X | g.53537612A>T | CA413155289 | HUWE1 | c.11865T>A (p.Phe3955Leu) c.12081T>A (p.Phe4027Leu) c.2548T>A n.216T>A c.12054T>A (p.Phe4018Leu) c.12330T>A (p.Phe4110Leu) c.12327T>A (p.Phe4109Leu) c.12285T>A (p.Phe4095Leu) c.12282T>A (p.Phe4094Leu) c.12279T>A (p.Phe4093Leu) c.12231T>A (p.Phe4077Leu) c.11928T>A (p.Phe3976Leu) c.12462T>A (p.Phe4154Leu) c.12459T>A (p.Phe4153Leu) c.12441T>A (p.Phe4147Leu) c.12417T>A (p.Phe4139Leu) c.12414T>A (p.Phe4138Leu) c.12411T>A (p.Phe4137Leu) c.12363T>A (p.Phe4121Leu) c.12351T>A (p.Phe4117Leu) c.12213T>A (p.Phe4071Leu) c.12060T>A (p.Phe4020Leu) | |
X | g.53537613A>C | CA413155295 | HUWE1 | c.11864T>G (p.Phe3955Cys) c.12080T>G (p.Phe4027Cys) c.2547T>G n.215T>G c.12053T>G (p.Phe4018Cys) c.12329T>G (p.Phe4110Cys) c.12326T>G (p.Phe4109Cys) c.12284T>G (p.Phe4095Cys) c.12281T>G (p.Phe4094Cys) c.12278T>G (p.Phe4093Cys) c.12230T>G (p.Phe4077Cys) c.11927T>G (p.Phe3976Cys) c.12461T>G (p.Phe4154Cys) c.12458T>G (p.Phe4153Cys) c.12440T>G (p.Phe4147Cys) c.12416T>G (p.Phe4139Cys) c.12413T>G (p.Phe4138Cys) c.12410T>G (p.Phe4137Cys) c.12362T>G (p.Phe4121Cys) c.12350T>G (p.Phe4117Cys) c.12212T>G (p.Phe4071Cys) c.12059T>G (p.Phe4020Cys) | |
X | g.53537613A>G | CA413155300 | HUWE1 | c.11864T>C (p.Phe3955Ser) c.12080T>C (p.Phe4027Ser) c.2547T>C n.215T>C c.12053T>C (p.Phe4018Ser) c.12329T>C (p.Phe4110Ser) c.12326T>C (p.Phe4109Ser) c.12284T>C (p.Phe4095Ser) c.12281T>C (p.Phe4094Ser) c.12278T>C (p.Phe4093Ser) c.12230T>C (p.Phe4077Ser) c.11927T>C (p.Phe3976Ser) c.12461T>C (p.Phe4154Ser) c.12458T>C (p.Phe4153Ser) c.12440T>C (p.Phe4147Ser) c.12416T>C (p.Phe4139Ser) c.12413T>C (p.Phe4138Ser) c.12410T>C (p.Phe4137Ser) c.12362T>C (p.Phe4121Ser) c.12350T>C (p.Phe4117Ser) c.12212T>C (p.Phe4071Ser) c.12059T>C (p.Phe4020Ser) | |
X | g.53537613A>T | CA413155306 | HUWE1 | c.11864T>A (p.Phe3955Tyr) c.12080T>A (p.Phe4027Tyr) c.2547T>A n.215T>A c.12053T>A (p.Phe4018Tyr) c.12329T>A (p.Phe4110Tyr) c.12326T>A (p.Phe4109Tyr) c.12284T>A (p.Phe4095Tyr) c.12281T>A (p.Phe4094Tyr) c.12278T>A (p.Phe4093Tyr) c.12230T>A (p.Phe4077Tyr) c.11927T>A (p.Phe3976Tyr) c.12461T>A (p.Phe4154Tyr) c.12458T>A (p.Phe4153Tyr) c.12440T>A (p.Phe4147Tyr) c.12416T>A (p.Phe4139Tyr) c.12413T>A (p.Phe4138Tyr) c.12410T>A (p.Phe4137Tyr) c.12362T>A (p.Phe4121Tyr) c.12350T>A (p.Phe4117Tyr) c.12212T>A (p.Phe4071Tyr) c.12059T>A (p.Phe4020Tyr) | |
X | g.53537614A>C | CA413155328 | HUWE1 | c.11863T>G (p.Phe3955Val) c.12079T>G (p.Phe4027Val) c.2546T>G n.214T>G c.12052T>G (p.Phe4018Val) c.12328T>G (p.Phe4110Val) c.12325T>G (p.Phe4109Val) c.12283T>G (p.Phe4095Val) c.12280T>G (p.Phe4094Val) c.12277T>G (p.Phe4093Val) c.12229T>G (p.Phe4077Val) c.11926T>G (p.Phe3976Val) c.12460T>G (p.Phe4154Val) c.12457T>G (p.Phe4153Val) c.12439T>G (p.Phe4147Val) c.12415T>G (p.Phe4139Val) c.12412T>G (p.Phe4138Val) c.12409T>G (p.Phe4137Val) c.12361T>G (p.Phe4121Val) c.12349T>G (p.Phe4117Val) c.12211T>G (p.Phe4071Val) c.12058T>G (p.Phe4020Val) | |
X | g.53537614A>G | CA413155333 | HUWE1 | c.11863T>C (p.Phe3955Leu) c.12079T>C (p.Phe4027Leu) c.2546T>C n.214T>C c.12052T>C (p.Phe4018Leu) c.12328T>C (p.Phe4110Leu) c.12325T>C (p.Phe4109Leu) c.12283T>C (p.Phe4095Leu) c.12280T>C (p.Phe4094Leu) c.12277T>C (p.Phe4093Leu) c.12229T>C (p.Phe4077Leu) c.11926T>C (p.Phe3976Leu) c.12460T>C (p.Phe4154Leu) c.12457T>C (p.Phe4153Leu) c.12439T>C (p.Phe4147Leu) c.12415T>C (p.Phe4139Leu) c.12412T>C (p.Phe4138Leu) c.12409T>C (p.Phe4137Leu) c.12361T>C (p.Phe4121Leu) c.12349T>C (p.Phe4117Leu) c.12211T>C (p.Phe4071Leu) c.12058T>C (p.Phe4020Leu) | |
X | g.53537614A>T | CA413155312 | HUWE1 | c.11863T>A (p.Phe3955Ile) c.12079T>A (p.Phe4027Ile) c.2546T>A n.214T>A c.12052T>A (p.Phe4018Ile) c.12328T>A (p.Phe4110Ile) c.12325T>A (p.Phe4109Ile) c.12283T>A (p.Phe4095Ile) c.12280T>A (p.Phe4094Ile) c.12277T>A (p.Phe4093Ile) c.12229T>A (p.Phe4077Ile) c.11926T>A (p.Phe3976Ile) c.12460T>A (p.Phe4154Ile) c.12457T>A (p.Phe4153Ile) c.12439T>A (p.Phe4147Ile) c.12415T>A (p.Phe4139Ile) c.12412T>A (p.Phe4138Ile) c.12409T>A (p.Phe4137Ile) c.12361T>A (p.Phe4121Ile) c.12349T>A (p.Phe4117Ile) c.12211T>A (p.Phe4071Ile) c.12058T>A (p.Phe4020Ile) | |
X | g.53537615C>A | CA516423780 | HUWE1 | c.11862G>T (p.Val3954=) c.12078G>T (p.Val4026=) c.2545G>T n.213G>T c.12051G>T (p.Val4017=) c.12327G>T (p.Val4109=) c.12324G>T (p.Val4108=) c.12282G>T (p.Val4094=) c.12279G>T (p.Val4093=) c.12276G>T (p.Val4092=) c.12228G>T (p.Val4076=) c.11925G>T (p.Val3975=) c.12459G>T (p.Val4153=) c.12456G>T (p.Val4152=) c.12438G>T (p.Val4146=) c.12414G>T (p.Val4138=) c.12411G>T (p.Val4137=) c.12408G>T (p.Val4136=) c.12360G>T (p.Val4120=) c.12348G>T (p.Val4116=) c.12210G>T (p.Val4070=) c.12057G>T (p.Val4019=) | |
X | g.53537615C= | CA2429870459 | HUWE1 | c.11862G= (p.Val3954=) c.12078G= (p.Val4026=) c.2545G= n.213G= c.12051G= (p.Val4017=) c.12327G= (p.Val4109=) c.12324G= (p.Val4108=) c.12282G= (p.Val4094=) c.12279G= (p.Val4093=) c.12276G= (p.Val4092=) c.12228G= (p.Val4076=) c.11925G= (p.Val3975=) c.12459G= (p.Val4153=) c.12456G= (p.Val4152=) c.12438G= (p.Val4146=) c.12414G= (p.Val4138=) c.12411G= (p.Val4137=) c.12408G= (p.Val4136=) c.12360G= (p.Val4120=) c.12348G= (p.Val4116=) c.12210G= (p.Val4070=) c.12057G= (p.Val4019=) | |
X | g.53537615C>G | CA516423782 | HUWE1 | c.11862G>C (p.Val3954=) c.12078G>C (p.Val4026=) c.2545G>C n.213G>C c.12051G>C (p.Val4017=) c.12327G>C (p.Val4109=) c.12324G>C (p.Val4108=) c.12282G>C (p.Val4094=) c.12279G>C (p.Val4093=) c.12276G>C (p.Val4092=) c.12228G>C (p.Val4076=) c.11925G>C (p.Val3975=) c.12459G>C (p.Val4153=) c.12456G>C (p.Val4152=) c.12438G>C (p.Val4146=) c.12414G>C (p.Val4138=) c.12411G>C (p.Val4137=) c.12408G>C (p.Val4136=) c.12360G>C (p.Val4120=) c.12348G>C (p.Val4116=) c.12210G>C (p.Val4070=) c.12057G>C (p.Val4019=) | |
X | g.53537615C>T | CA10421281 | HUWE1 | c.11862G>A (p.Val3954=) c.12078G>A (p.Val4026=) c.2545G>A n.213G>A c.12051G>A (p.Val4017=) c.12327G>A (p.Val4109=) c.12324G>A (p.Val4108=) c.12282G>A (p.Val4094=) c.12279G>A (p.Val4093=) c.12276G>A (p.Val4092=) c.12228G>A (p.Val4076=) c.11925G>A (p.Val3975=) c.12459G>A (p.Val4153=) c.12456G>A (p.Val4152=) c.12438G>A (p.Val4146=) c.12414G>A (p.Val4138=) c.12411G>A (p.Val4137=) c.12408G>A (p.Val4136=) c.12360G>A (p.Val4120=) c.12348G>A (p.Val4116=) c.12210G>A (p.Val4070=) c.12057G>A (p.Val4019=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53537616A>C | CA413155341 | HUWE1 | c.11861T>G (p.Val3954Gly) c.12077T>G (p.Val4026Gly) c.2544T>G n.212T>G c.12050T>G (p.Val4017Gly) c.12326T>G (p.Val4109Gly) c.12323T>G (p.Val4108Gly) c.12281T>G (p.Val4094Gly) c.12278T>G (p.Val4093Gly) c.12275T>G (p.Val4092Gly) c.12227T>G (p.Val4076Gly) c.11924T>G (p.Val3975Gly) c.12458T>G (p.Val4153Gly) c.12455T>G (p.Val4152Gly) c.12437T>G (p.Val4146Gly) c.12413T>G (p.Val4138Gly) c.12410T>G (p.Val4137Gly) c.12407T>G (p.Val4136Gly) c.12359T>G (p.Val4120Gly) c.12347T>G (p.Val4116Gly) c.12209T>G (p.Val4070Gly) c.12056T>G (p.Val4019Gly) | |
X | g.53537616A>G | CA413155349 | HUWE1 | c.11861T>C (p.Val3954Ala) c.12077T>C (p.Val4026Ala) c.2544T>C n.212T>C c.12050T>C (p.Val4017Ala) c.12326T>C (p.Val4109Ala) c.12323T>C (p.Val4108Ala) c.12281T>C (p.Val4094Ala) c.12278T>C (p.Val4093Ala) c.12275T>C (p.Val4092Ala) c.12227T>C (p.Val4076Ala) c.11924T>C (p.Val3975Ala) c.12458T>C (p.Val4153Ala) c.12455T>C (p.Val4152Ala) c.12437T>C (p.Val4146Ala) c.12413T>C (p.Val4138Ala) c.12410T>C (p.Val4137Ala) c.12407T>C (p.Val4136Ala) c.12359T>C (p.Val4120Ala) c.12347T>C (p.Val4116Ala) c.12209T>C (p.Val4070Ala) c.12056T>C (p.Val4019Ala) | |
X | g.53537616A>T | CA413155348 | HUWE1 | c.11861T>A (p.Val3954Glu) c.12077T>A (p.Val4026Glu) c.2544T>A n.212T>A c.12050T>A (p.Val4017Glu) c.12326T>A (p.Val4109Glu) c.12323T>A (p.Val4108Glu) c.12281T>A (p.Val4094Glu) c.12278T>A (p.Val4093Glu) c.12275T>A (p.Val4092Glu) c.12227T>A (p.Val4076Glu) c.11924T>A (p.Val3975Glu) c.12458T>A (p.Val4153Glu) c.12455T>A (p.Val4152Glu) c.12437T>A (p.Val4146Glu) c.12413T>A (p.Val4138Glu) c.12410T>A (p.Val4137Glu) c.12407T>A (p.Val4136Glu) c.12359T>A (p.Val4120Glu) c.12347T>A (p.Val4116Glu) c.12209T>A (p.Val4070Glu) c.12056T>A (p.Val4019Glu) | |
X | g.53537617C>A | CA413155350 | HUWE1 | c.11860G>T (p.Val3954Leu) c.12076G>T (p.Val4026Leu) c.2543G>T n.211G>T c.12049G>T (p.Val4017Leu) c.12325G>T (p.Val4109Leu) c.12322G>T (p.Val4108Leu) c.12280G>T (p.Val4094Leu) c.12277G>T (p.Val4093Leu) c.12274G>T (p.Val4092Leu) c.12226G>T (p.Val4076Leu) c.11923G>T (p.Val3975Leu) c.12457G>T (p.Val4153Leu) c.12454G>T (p.Val4152Leu) c.12436G>T (p.Val4146Leu) c.12412G>T (p.Val4138Leu) c.12409G>T (p.Val4137Leu) c.12406G>T (p.Val4136Leu) c.12358G>T (p.Val4120Leu) c.12346G>T (p.Val4116Leu) c.12208G>T (p.Val4070Leu) c.12055G>T (p.Val4019Leu) | |
X | g.53537617C>G | CA413155354 | HUWE1 | c.11860G>C (p.Val3954Leu) c.12076G>C (p.Val4026Leu) c.2543G>C n.211G>C c.12049G>C (p.Val4017Leu) c.12325G>C (p.Val4109Leu) c.12322G>C (p.Val4108Leu) c.12280G>C (p.Val4094Leu) c.12277G>C (p.Val4093Leu) c.12274G>C (p.Val4092Leu) c.12226G>C (p.Val4076Leu) c.11923G>C (p.Val3975Leu) c.12457G>C (p.Val4153Leu) c.12454G>C (p.Val4152Leu) c.12436G>C (p.Val4146Leu) c.12412G>C (p.Val4138Leu) c.12409G>C (p.Val4137Leu) c.12406G>C (p.Val4136Leu) c.12358G>C (p.Val4120Leu) c.12346G>C (p.Val4116Leu) c.12208G>C (p.Val4070Leu) c.12055G>C (p.Val4019Leu) | |
X | g.53537617C>T | CA413155356 | HUWE1 | c.11860G>A (p.Val3954Met) c.12076G>A (p.Val4026Met) c.2543G>A n.211G>A c.12049G>A (p.Val4017Met) c.12325G>A (p.Val4109Met) c.12322G>A (p.Val4108Met) c.12280G>A (p.Val4094Met) c.12277G>A (p.Val4093Met) c.12274G>A (p.Val4092Met) c.12226G>A (p.Val4076Met) c.11923G>A (p.Val3975Met) c.12457G>A (p.Val4153Met) c.12454G>A (p.Val4152Met) c.12436G>A (p.Val4146Met) c.12412G>A (p.Val4138Met) c.12409G>A (p.Val4137Met) c.12406G>A (p.Val4136Met) c.12358G>A (p.Val4120Met) c.12346G>A (p.Val4116Met) c.12208G>A (p.Val4070Met) c.12055G>A (p.Val4019Met) | |
X | g.53537618A= | CA2429870460 | HUWE1 | c.11859T= (p.His3953=) c.12075T= (p.His4025=) c.2542T= n.210T= c.12048T= (p.His4016=) c.12324T= (p.His4108=) c.12321T= (p.His4107=) c.12279T= (p.His4093=) c.12276T= (p.His4092=) c.12273T= (p.His4091=) c.12225T= (p.His4075=) c.11922T= (p.His3974=) c.12456T= (p.His4152=) c.12453T= (p.His4151=) c.12435T= (p.His4145=) c.12411T= (p.His4137=) c.12408T= (p.His4136=) c.12405T= (p.His4135=) c.12357T= (p.His4119=) c.12345T= (p.His4115=) c.12207T= (p.His4069=) c.12054T= (p.His4018=) | |
X | g.53537618A>C | CA413155359 | HUWE1 | c.11859T>G (p.His3953Gln) c.12075T>G (p.His4025Gln) c.2542T>G n.210T>G c.12048T>G (p.His4016Gln) c.12324T>G (p.His4108Gln) c.12321T>G (p.His4107Gln) c.12279T>G (p.His4093Gln) c.12276T>G (p.His4092Gln) c.12273T>G (p.His4091Gln) c.12225T>G (p.His4075Gln) c.11922T>G (p.His3974Gln) c.12456T>G (p.His4152Gln) c.12453T>G (p.His4151Gln) c.12435T>G (p.His4145Gln) c.12411T>G (p.His4137Gln) c.12408T>G (p.His4136Gln) c.12405T>G (p.His4135Gln) c.12357T>G (p.His4119Gln) c.12345T>G (p.His4115Gln) c.12207T>G (p.His4069Gln) c.12054T>G (p.His4018Gln) | |
X | g.53537618A>G | CA10421282 | HUWE1 | c.11859T>C (p.His3953=) c.12075T>C (p.His4025=) c.2542T>C n.210T>C c.12048T>C (p.His4016=) c.12324T>C (p.His4108=) c.12321T>C (p.His4107=) c.12279T>C (p.His4093=) c.12276T>C (p.His4092=) c.12273T>C (p.His4091=) c.12225T>C (p.His4075=) c.11922T>C (p.His3974=) c.12456T>C (p.His4152=) c.12453T>C (p.His4151=) c.12435T>C (p.His4145=) c.12411T>C (p.His4137=) c.12408T>C (p.His4136=) c.12405T>C (p.His4135=) c.12357T>C (p.His4119=) c.12345T>C (p.His4115=) c.12207T>C (p.His4069=) c.12054T>C (p.His4018=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53537618A>T | CA413155366 | HUWE1 | c.11859T>A (p.His3953Gln) c.12075T>A (p.His4025Gln) c.2542T>A n.210T>A c.12048T>A (p.His4016Gln) c.12324T>A (p.His4108Gln) c.12321T>A (p.His4107Gln) c.12279T>A (p.His4093Gln) c.12276T>A (p.His4092Gln) c.12273T>A (p.His4091Gln) c.12225T>A (p.His4075Gln) c.11922T>A (p.His3974Gln) c.12456T>A (p.His4152Gln) c.12453T>A (p.His4151Gln) c.12435T>A (p.His4145Gln) c.12411T>A (p.His4137Gln) c.12408T>A (p.His4136Gln) c.12405T>A (p.His4135Gln) c.12357T>A (p.His4119Gln) c.12345T>A (p.His4115Gln) c.12207T>A (p.His4069Gln) c.12054T>A (p.His4018Gln) | |
X | g.53537619T>A | CA413155370 | HUWE1 | c.11858A>T (p.His3953Leu) c.12074A>T (p.His4025Leu) c.2541A>T n.209A>T c.12047A>T (p.His4016Leu) c.12323A>T (p.His4108Leu) c.12320A>T (p.His4107Leu) c.12278A>T (p.His4093Leu) c.12275A>T (p.His4092Leu) c.12272A>T (p.His4091Leu) c.12224A>T (p.His4075Leu) c.11921A>T (p.His3974Leu) c.12455A>T (p.His4152Leu) c.12452A>T (p.His4151Leu) c.12434A>T (p.His4145Leu) c.12410A>T (p.His4137Leu) c.12407A>T (p.His4136Leu) c.12404A>T (p.His4135Leu) c.12356A>T (p.His4119Leu) c.12344A>T (p.His4115Leu) c.12206A>T (p.His4069Leu) c.12053A>T (p.His4018Leu) | |
X | g.53537619T>C | CA413155372 | HUWE1 | c.11858A>G (p.His3953Arg) c.12074A>G (p.His4025Arg) c.2541A>G n.209A>G c.12047A>G (p.His4016Arg) c.12323A>G (p.His4108Arg) c.12320A>G (p.His4107Arg) c.12278A>G (p.His4093Arg) c.12275A>G (p.His4092Arg) c.12272A>G (p.His4091Arg) c.12224A>G (p.His4075Arg) c.11921A>G (p.His3974Arg) c.12455A>G (p.His4152Arg) c.12452A>G (p.His4151Arg) c.12434A>G (p.His4145Arg) c.12410A>G (p.His4137Arg) c.12407A>G (p.His4136Arg) c.12404A>G (p.His4135Arg) c.12356A>G (p.His4119Arg) c.12344A>G (p.His4115Arg) c.12206A>G (p.His4069Arg) c.12053A>G (p.His4018Arg) | ClinVar |
X | g.53537619T>G | CA413155375 | HUWE1 | c.11858A>C (p.His3953Pro) c.12074A>C (p.His4025Pro) c.2541A>C n.209A>C c.12047A>C (p.His4016Pro) c.12323A>C (p.His4108Pro) c.12320A>C (p.His4107Pro) c.12278A>C (p.His4093Pro) c.12275A>C (p.His4092Pro) c.12272A>C (p.His4091Pro) c.12224A>C (p.His4075Pro) c.11921A>C (p.His3974Pro) c.12455A>C (p.His4152Pro) c.12452A>C (p.His4151Pro) c.12434A>C (p.His4145Pro) c.12410A>C (p.His4137Pro) c.12407A>C (p.His4136Pro) c.12404A>C (p.His4135Pro) c.12356A>C (p.His4119Pro) c.12344A>C (p.His4115Pro) c.12206A>C (p.His4069Pro) c.12053A>C (p.His4018Pro) | |
X | g.53537620G>A | CA413155379 | HUWE1 | c.11857C>T (p.His3953Tyr) c.12073C>T (p.His4025Tyr) c.2540C>T n.208C>T c.12046C>T (p.His4016Tyr) c.12322C>T (p.His4108Tyr) c.12319C>T (p.His4107Tyr) c.12277C>T (p.His4093Tyr) c.12274C>T (p.His4092Tyr) c.12271C>T (p.His4091Tyr) c.12223C>T (p.His4075Tyr) c.11920C>T (p.His3974Tyr) c.12454C>T (p.His4152Tyr) c.12451C>T (p.His4151Tyr) c.12433C>T (p.His4145Tyr) c.12409C>T (p.His4137Tyr) c.12406C>T (p.His4136Tyr) c.12403C>T (p.His4135Tyr) c.12355C>T (p.His4119Tyr) c.12343C>T (p.His4115Tyr) c.12205C>T (p.His4069Tyr) c.12052C>T (p.His4018Tyr) | |
X | g.53537620G>C | CA413155383 | HUWE1 | c.11857C>G (p.His3953Asp) c.12073C>G (p.His4025Asp) c.2540C>G n.208C>G c.12046C>G (p.His4016Asp) c.12322C>G (p.His4108Asp) c.12319C>G (p.His4107Asp) c.12277C>G (p.His4093Asp) c.12274C>G (p.His4092Asp) c.12271C>G (p.His4091Asp) c.12223C>G (p.His4075Asp) c.11920C>G (p.His3974Asp) c.12454C>G (p.His4152Asp) c.12451C>G (p.His4151Asp) c.12433C>G (p.His4145Asp) c.12409C>G (p.His4137Asp) c.12406C>G (p.His4136Asp) c.12403C>G (p.His4135Asp) c.12355C>G (p.His4119Asp) c.12343C>G (p.His4115Asp) c.12205C>G (p.His4069Asp) c.12052C>G (p.His4018Asp) | |
X | g.53537620G>T | CA413155387 | HUWE1 | c.11857C>A (p.His3953Asn) c.12073C>A (p.His4025Asn) c.2540C>A n.208C>A c.12046C>A (p.His4016Asn) c.12322C>A (p.His4108Asn) c.12319C>A (p.His4107Asn) c.12277C>A (p.His4093Asn) c.12274C>A (p.His4092Asn) c.12271C>A (p.His4091Asn) c.12223C>A (p.His4075Asn) c.11920C>A (p.His3974Asn) c.12454C>A (p.His4152Asn) c.12451C>A (p.His4151Asn) c.12433C>A (p.His4145Asn) c.12409C>A (p.His4137Asn) c.12406C>A (p.His4136Asn) c.12403C>A (p.His4135Asn) c.12355C>A (p.His4119Asn) c.12343C>A (p.His4115Asn) c.12205C>A (p.His4069Asn) c.12052C>A (p.His4018Asn) | |
X | g.53537621G>A | CA516423803 | HUWE1 | c.11856C>T (p.Asp3952=) c.12072C>T (p.Asp4024=) c.2539C>T n.207C>T c.12045C>T (p.Asp4015=) c.12321C>T (p.Asp4107=) c.12318C>T (p.Asp4106=) c.12276C>T (p.Asp4092=) c.12273C>T (p.Asp4091=) c.12270C>T (p.Asp4090=) c.12222C>T (p.Asp4074=) c.11919C>T (p.Asp3973=) c.12453C>T (p.Asp4151=) c.12450C>T (p.Asp4150=) c.12432C>T (p.Asp4144=) c.12408C>T (p.Asp4136=) c.12405C>T (p.Asp4135=) c.12402C>T (p.Asp4134=) c.12354C>T (p.Asp4118=) c.12342C>T (p.Asp4114=) c.12204C>T (p.Asp4068=) c.12051C>T (p.Asp4017=) | |
X | g.53537621G>C | CA413155388 | HUWE1 | c.11856C>G (p.Asp3952Glu) c.12072C>G (p.Asp4024Glu) c.2539C>G n.207C>G c.12045C>G (p.Asp4015Glu) c.12321C>G (p.Asp4107Glu) c.12318C>G (p.Asp4106Glu) c.12276C>G (p.Asp4092Glu) c.12273C>G (p.Asp4091Glu) c.12270C>G (p.Asp4090Glu) c.12222C>G (p.Asp4074Glu) c.11919C>G (p.Asp3973Glu) c.12453C>G (p.Asp4151Glu) c.12450C>G (p.Asp4150Glu) c.12432C>G (p.Asp4144Glu) c.12408C>G (p.Asp4136Glu) c.12405C>G (p.Asp4135Glu) c.12402C>G (p.Asp4134Glu) c.12354C>G (p.Asp4118Glu) c.12342C>G (p.Asp4114Glu) c.12204C>G (p.Asp4068Glu) c.12051C>G (p.Asp4017Glu) | |
X | g.53537621G>T | CA413155389 | HUWE1 | c.11856C>A (p.Asp3952Glu) c.12072C>A (p.Asp4024Glu) c.2539C>A n.207C>A c.12045C>A (p.Asp4015Glu) c.12321C>A (p.Asp4107Glu) c.12318C>A (p.Asp4106Glu) c.12276C>A (p.Asp4092Glu) c.12273C>A (p.Asp4091Glu) c.12270C>A (p.Asp4090Glu) c.12222C>A (p.Asp4074Glu) c.11919C>A (p.Asp3973Glu) c.12453C>A (p.Asp4151Glu) c.12450C>A (p.Asp4150Glu) c.12432C>A (p.Asp4144Glu) c.12408C>A (p.Asp4136Glu) c.12405C>A (p.Asp4135Glu) c.12402C>A (p.Asp4134Glu) c.12354C>A (p.Asp4118Glu) c.12342C>A (p.Asp4114Glu) c.12204C>A (p.Asp4068Glu) c.12051C>A (p.Asp4017Glu) | |
X | g.53537622T>A | CA413155393 | HUWE1 | c.11855A>T (p.Asp3952Val) c.12071A>T (p.Asp4024Val) c.2538A>T n.206A>T c.12044A>T (p.Asp4015Val) c.12320A>T (p.Asp4107Val) c.12317A>T (p.Asp4106Val) c.12275A>T (p.Asp4092Val) c.12272A>T (p.Asp4091Val) c.12269A>T (p.Asp4090Val) c.12221A>T (p.Asp4074Val) c.11918A>T (p.Asp3973Val) c.12452A>T (p.Asp4151Val) c.12449A>T (p.Asp4150Val) c.12431A>T (p.Asp4144Val) c.12407A>T (p.Asp4136Val) c.12404A>T (p.Asp4135Val) c.12401A>T (p.Asp4134Val) c.12353A>T (p.Asp4118Val) c.12341A>T (p.Asp4114Val) c.12203A>T (p.Asp4068Val) c.12050A>T (p.Asp4017Val) | |
X | g.53537622T>C | CA413155400 | HUWE1 | c.11855A>G (p.Asp3952Gly) c.12071A>G (p.Asp4024Gly) c.2538A>G n.206A>G c.12044A>G (p.Asp4015Gly) c.12320A>G (p.Asp4107Gly) c.12317A>G (p.Asp4106Gly) c.12275A>G (p.Asp4092Gly) c.12272A>G (p.Asp4091Gly) c.12269A>G (p.Asp4090Gly) c.12221A>G (p.Asp4074Gly) c.11918A>G (p.Asp3973Gly) c.12452A>G (p.Asp4151Gly) c.12449A>G (p.Asp4150Gly) c.12431A>G (p.Asp4144Gly) c.12407A>G (p.Asp4136Gly) c.12404A>G (p.Asp4135Gly) c.12401A>G (p.Asp4134Gly) c.12353A>G (p.Asp4118Gly) c.12341A>G (p.Asp4114Gly) c.12203A>G (p.Asp4068Gly) c.12050A>G (p.Asp4017Gly) | |
X | g.53537622T>G | CA413155405 | HUWE1 | c.11855A>C (p.Asp3952Ala) c.12071A>C (p.Asp4024Ala) c.2538A>C n.206A>C c.12044A>C (p.Asp4015Ala) c.12320A>C (p.Asp4107Ala) c.12317A>C (p.Asp4106Ala) c.12275A>C (p.Asp4092Ala) c.12272A>C (p.Asp4091Ala) c.12269A>C (p.Asp4090Ala) c.12221A>C (p.Asp4074Ala) c.11918A>C (p.Asp3973Ala) c.12452A>C (p.Asp4151Ala) c.12449A>C (p.Asp4150Ala) c.12431A>C (p.Asp4144Ala) c.12407A>C (p.Asp4136Ala) c.12404A>C (p.Asp4135Ala) c.12401A>C (p.Asp4134Ala) c.12353A>C (p.Asp4118Ala) c.12341A>C (p.Asp4114Ala) c.12203A>C (p.Asp4068Ala) c.12050A>C (p.Asp4017Ala) | |
X | g.53537623C>A | CA413155417 | HUWE1 | c.11854G>T (p.Asp3952Tyr) c.12070G>T (p.Asp4024Tyr) c.2537G>T n.205G>T c.12043G>T (p.Asp4015Tyr) c.12319G>T (p.Asp4107Tyr) c.12316G>T (p.Asp4106Tyr) c.12274G>T (p.Asp4092Tyr) c.12271G>T (p.Asp4091Tyr) c.12268G>T (p.Asp4090Tyr) c.12220G>T (p.Asp4074Tyr) c.11917G>T (p.Asp3973Tyr) c.12451G>T (p.Asp4151Tyr) c.12448G>T (p.Asp4150Tyr) c.12430G>T (p.Asp4144Tyr) c.12406G>T (p.Asp4136Tyr) c.12403G>T (p.Asp4135Tyr) c.12400G>T (p.Asp4134Tyr) c.12352G>T (p.Asp4118Tyr) c.12340G>T (p.Asp4114Tyr) c.12202G>T (p.Asp4068Tyr) c.12049G>T (p.Asp4017Tyr) | |
X | g.53537623C>G | CA413155423 | HUWE1 | c.11854G>C (p.Asp3952His) c.12070G>C (p.Asp4024His) c.2537G>C n.205G>C c.12043G>C (p.Asp4015His) c.12319G>C (p.Asp4107His) c.12316G>C (p.Asp4106His) c.12274G>C (p.Asp4092His) c.12271G>C (p.Asp4091His) c.12268G>C (p.Asp4090His) c.12220G>C (p.Asp4074His) c.11917G>C (p.Asp3973His) c.12451G>C (p.Asp4151His) c.12448G>C (p.Asp4150His) c.12430G>C (p.Asp4144His) c.12406G>C (p.Asp4136His) c.12403G>C (p.Asp4135His) c.12400G>C (p.Asp4134His) c.12352G>C (p.Asp4118His) c.12340G>C (p.Asp4114His) c.12202G>C (p.Asp4068His) c.12049G>C (p.Asp4017His) | |
X | g.53537623C>T | CA413155427 | HUWE1 | c.11854G>A (p.Asp3952Asn) c.12070G>A (p.Asp4024Asn) c.2537G>A n.205G>A c.12043G>A (p.Asp4015Asn) c.12319G>A (p.Asp4107Asn) c.12316G>A (p.Asp4106Asn) c.12274G>A (p.Asp4092Asn) c.12271G>A (p.Asp4091Asn) c.12268G>A (p.Asp4090Asn) c.12220G>A (p.Asp4074Asn) c.11917G>A (p.Asp3973Asn) c.12451G>A (p.Asp4151Asn) c.12448G>A (p.Asp4150Asn) c.12430G>A (p.Asp4144Asn) c.12406G>A (p.Asp4136Asn) c.12403G>A (p.Asp4135Asn) c.12400G>A (p.Asp4134Asn) c.12352G>A (p.Asp4118Asn) c.12340G>A (p.Asp4114Asn) c.12202G>A (p.Asp4068Asn) c.12049G>A (p.Asp4017Asn) | |
X | g.53537624A>C | CA516423821 | HUWE1 | c.11853T>G (p.Arg3951=) c.12069T>G (p.Arg4023=) c.2536T>G n.204T>G c.12042T>G (p.Arg4014=) c.12318T>G (p.Arg4106=) c.12315T>G (p.Arg4105=) c.12273T>G (p.Arg4091=) c.12270T>G (p.Arg4090=) c.12267T>G (p.Arg4089=) c.12219T>G (p.Arg4073=) c.11916T>G (p.Arg3972=) c.12450T>G (p.Arg4150=) c.12447T>G (p.Arg4149=) c.12429T>G (p.Arg4143=) c.12405T>G (p.Arg4135=) c.12402T>G (p.Arg4134=) c.12399T>G (p.Arg4133=) c.12351T>G (p.Arg4117=) c.12339T>G (p.Arg4113=) c.12201T>G (p.Arg4067=) c.12048T>G (p.Arg4016=) | |
X | g.53537624A>G | CA516423817 | HUWE1 | c.11853T>C (p.Arg3951=) c.12069T>C (p.Arg4023=) c.2536T>C n.204T>C c.12042T>C (p.Arg4014=) c.12318T>C (p.Arg4106=) c.12315T>C (p.Arg4105=) c.12273T>C (p.Arg4091=) c.12270T>C (p.Arg4090=) c.12267T>C (p.Arg4089=) c.12219T>C (p.Arg4073=) c.11916T>C (p.Arg3972=) c.12450T>C (p.Arg4150=) c.12447T>C (p.Arg4149=) c.12429T>C (p.Arg4143=) c.12405T>C (p.Arg4135=) c.12402T>C (p.Arg4134=) c.12399T>C (p.Arg4133=) c.12351T>C (p.Arg4117=) c.12339T>C (p.Arg4113=) c.12201T>C (p.Arg4067=) c.12048T>C (p.Arg4016=) | |
X | g.53537624A>T | CA516423819 | HUWE1 | c.11853T>A (p.Arg3951=) c.12069T>A (p.Arg4023=) c.2536T>A n.204T>A c.12042T>A (p.Arg4014=) c.12318T>A (p.Arg4106=) c.12315T>A (p.Arg4105=) c.12273T>A (p.Arg4091=) c.12270T>A (p.Arg4090=) c.12267T>A (p.Arg4089=) c.12219T>A (p.Arg4073=) c.11916T>A (p.Arg3972=) c.12450T>A (p.Arg4150=) c.12447T>A (p.Arg4149=) c.12429T>A (p.Arg4143=) c.12405T>A (p.Arg4135=) c.12402T>A (p.Arg4134=) c.12399T>A (p.Arg4133=) c.12351T>A (p.Arg4117=) c.12339T>A (p.Arg4113=) c.12201T>A (p.Arg4067=) c.12048T>A (p.Arg4016=) | |
X | g.53537625C>A | CA413155431 | HUWE1 | c.11852G>T (p.Arg3951Leu) c.12068G>T (p.Arg4023Leu) c.2535G>T n.203G>T c.12041G>T (p.Arg4014Leu) c.12317G>T (p.Arg4106Leu) c.12314G>T (p.Arg4105Leu) c.12272G>T (p.Arg4091Leu) c.12269G>T (p.Arg4090Leu) c.12266G>T (p.Arg4089Leu) c.12218G>T (p.Arg4073Leu) c.11915G>T (p.Arg3972Leu) c.12449G>T (p.Arg4150Leu) c.12446G>T (p.Arg4149Leu) c.12428G>T (p.Arg4143Leu) c.12404G>T (p.Arg4135Leu) c.12401G>T (p.Arg4134Leu) c.12398G>T (p.Arg4133Leu) c.12350G>T (p.Arg4117Leu) c.12338G>T (p.Arg4113Leu) c.12200G>T (p.Arg4067Leu) c.12047G>T (p.Arg4016Leu) | |
X | g.53537625C>G | CA413155437 | HUWE1 | c.11852G>C (p.Arg3951Pro) c.12068G>C (p.Arg4023Pro) c.2535G>C n.203G>C c.12041G>C (p.Arg4014Pro) c.12317G>C (p.Arg4106Pro) c.12314G>C (p.Arg4105Pro) c.12272G>C (p.Arg4091Pro) c.12269G>C (p.Arg4090Pro) c.12266G>C (p.Arg4089Pro) c.12218G>C (p.Arg4073Pro) c.11915G>C (p.Arg3972Pro) c.12449G>C (p.Arg4150Pro) c.12446G>C (p.Arg4149Pro) c.12428G>C (p.Arg4143Pro) c.12404G>C (p.Arg4135Pro) c.12401G>C (p.Arg4134Pro) c.12398G>C (p.Arg4133Pro) c.12350G>C (p.Arg4117Pro) c.12338G>C (p.Arg4113Pro) c.12200G>C (p.Arg4067Pro) c.12047G>C (p.Arg4016Pro) | |
X | g.53537625C>T | CA413155441 | HUWE1 | c.11852G>A (p.Arg3951His) c.12068G>A (p.Arg4023His) c.2535G>A n.203G>A c.12041G>A (p.Arg4014His) c.12317G>A (p.Arg4106His) c.12314G>A (p.Arg4105His) c.12272G>A (p.Arg4091His) c.12269G>A (p.Arg4090His) c.12266G>A (p.Arg4089His) c.12218G>A (p.Arg4073His) c.11915G>A (p.Arg3972His) c.12449G>A (p.Arg4150His) c.12446G>A (p.Arg4149His) c.12428G>A (p.Arg4143His) c.12404G>A (p.Arg4135His) c.12401G>A (p.Arg4134His) c.12398G>A (p.Arg4133His) c.12350G>A (p.Arg4117His) c.12338G>A (p.Arg4113His) c.12200G>A (p.Arg4067His) c.12047G>A (p.Arg4016His) | gnomAD v4 |
X | g.53537626G>A | CA413155445 | HUWE1 | c.11851C>T (p.Arg3951Cys) c.12067C>T (p.Arg4023Cys) c.2534C>T n.202C>T c.12040C>T (p.Arg4014Cys) c.12316C>T (p.Arg4106Cys) c.12313C>T (p.Arg4105Cys) c.12271C>T (p.Arg4091Cys) c.12268C>T (p.Arg4090Cys) c.12265C>T (p.Arg4089Cys) c.12217C>T (p.Arg4073Cys) c.11914C>T (p.Arg3972Cys) c.12448C>T (p.Arg4150Cys) c.12445C>T (p.Arg4149Cys) c.12427C>T (p.Arg4143Cys) c.12403C>T (p.Arg4135Cys) c.12400C>T (p.Arg4134Cys) c.12397C>T (p.Arg4133Cys) c.12349C>T (p.Arg4117Cys) c.12337C>T (p.Arg4113Cys) c.12199C>T (p.Arg4067Cys) c.12046C>T (p.Arg4016Cys) | ClinVar dbSNP COSMIC COSMIC |
X | g.53537626G>C | CA413155447 | HUWE1 | c.11851C>G (p.Arg3951Gly) c.12067C>G (p.Arg4023Gly) c.2534C>G n.202C>G c.12040C>G (p.Arg4014Gly) c.12316C>G (p.Arg4106Gly) c.12313C>G (p.Arg4105Gly) c.12271C>G (p.Arg4091Gly) c.12268C>G (p.Arg4090Gly) c.12265C>G (p.Arg4089Gly) c.12217C>G (p.Arg4073Gly) c.11914C>G (p.Arg3972Gly) c.12448C>G (p.Arg4150Gly) c.12445C>G (p.Arg4149Gly) c.12427C>G (p.Arg4143Gly) c.12403C>G (p.Arg4135Gly) c.12400C>G (p.Arg4134Gly) c.12397C>G (p.Arg4133Gly) c.12349C>G (p.Arg4117Gly) c.12337C>G (p.Arg4113Gly) c.12199C>G (p.Arg4067Gly) c.12046C>G (p.Arg4016Gly) | |
X | g.53537626G= | CA2429870461 | HUWE1 | c.11851C= (p.Arg3951=) c.12067C= (p.Arg4023=) c.2534C= n.202C= c.12040C= (p.Arg4014=) c.12316C= (p.Arg4106=) c.12313C= (p.Arg4105=) c.12271C= (p.Arg4091=) c.12268C= (p.Arg4090=) c.12265C= (p.Arg4089=) c.12217C= (p.Arg4073=) c.11914C= (p.Arg3972=) c.12448C= (p.Arg4150=) c.12445C= (p.Arg4149=) c.12427C= (p.Arg4143=) c.12403C= (p.Arg4135=) c.12400C= (p.Arg4134=) c.12397C= (p.Arg4133=) c.12349C= (p.Arg4117=) c.12337C= (p.Arg4113=) c.12199C= (p.Arg4067=) c.12046C= (p.Arg4016=) | |
X | g.53537626G>T | CA413155448 | HUWE1 | c.11851C>A (p.Arg3951Ser) c.12067C>A (p.Arg4023Ser) c.2534C>A n.202C>A c.12040C>A (p.Arg4014Ser) c.12316C>A (p.Arg4106Ser) c.12313C>A (p.Arg4105Ser) c.12271C>A (p.Arg4091Ser) c.12268C>A (p.Arg4090Ser) c.12265C>A (p.Arg4089Ser) c.12217C>A (p.Arg4073Ser) c.11914C>A (p.Arg3972Ser) c.12448C>A (p.Arg4150Ser) c.12445C>A (p.Arg4149Ser) c.12427C>A (p.Arg4143Ser) c.12403C>A (p.Arg4135Ser) c.12400C>A (p.Arg4134Ser) c.12397C>A (p.Arg4133Ser) c.12349C>A (p.Arg4117Ser) c.12337C>A (p.Arg4113Ser) c.12199C>A (p.Arg4067Ser) c.12046C>A (p.Arg4016Ser) | gnomAD v4 |
X | g.53537627A>C | CA516423831 | HUWE1 | c.11850T>G (p.Arg3950=) c.12066T>G (p.Arg4022=) c.2533T>G n.201T>G c.12039T>G (p.Arg4013=) c.12315T>G (p.Arg4105=) c.12312T>G (p.Arg4104=) c.12270T>G (p.Arg4090=) c.12267T>G (p.Arg4089=) c.12264T>G (p.Arg4088=) c.12216T>G (p.Arg4072=) c.11913T>G (p.Arg3971=) c.12447T>G (p.Arg4149=) c.12444T>G (p.Arg4148=) c.12426T>G (p.Arg4142=) c.12402T>G (p.Arg4134=) c.12399T>G (p.Arg4133=) c.12396T>G (p.Arg4132=) c.12348T>G (p.Arg4116=) c.12336T>G (p.Arg4112=) c.12198T>G (p.Arg4066=) c.12045T>G (p.Arg4015=) | |
X | g.53537627A>G | CA516423833 | HUWE1 | c.11850T>C (p.Arg3950=) c.12066T>C (p.Arg4022=) c.2533T>C n.201T>C c.12039T>C (p.Arg4013=) c.12315T>C (p.Arg4105=) c.12312T>C (p.Arg4104=) c.12270T>C (p.Arg4090=) c.12267T>C (p.Arg4089=) c.12264T>C (p.Arg4088=) c.12216T>C (p.Arg4072=) c.11913T>C (p.Arg3971=) c.12447T>C (p.Arg4149=) c.12444T>C (p.Arg4148=) c.12426T>C (p.Arg4142=) c.12402T>C (p.Arg4134=) c.12399T>C (p.Arg4133=) c.12396T>C (p.Arg4132=) c.12348T>C (p.Arg4116=) c.12336T>C (p.Arg4112=) c.12198T>C (p.Arg4066=) c.12045T>C (p.Arg4015=) | |
X | g.53537627A>T | CA516423835 | HUWE1 | c.11850T>A (p.Arg3950=) c.12066T>A (p.Arg4022=) c.2533T>A n.201T>A c.12039T>A (p.Arg4013=) c.12315T>A (p.Arg4105=) c.12312T>A (p.Arg4104=) c.12270T>A (p.Arg4090=) c.12267T>A (p.Arg4089=) c.12264T>A (p.Arg4088=) c.12216T>A (p.Arg4072=) c.11913T>A (p.Arg3971=) c.12447T>A (p.Arg4149=) c.12444T>A (p.Arg4148=) c.12426T>A (p.Arg4142=) c.12402T>A (p.Arg4134=) c.12399T>A (p.Arg4133=) c.12396T>A (p.Arg4132=) c.12348T>A (p.Arg4116=) c.12336T>A (p.Arg4112=) c.12198T>A (p.Arg4066=) c.12045T>A (p.Arg4015=) | |
X | g.53537628C>A | CA329184697 | HUWE1 | c.11849G>T (p.Arg3950Leu) c.12065G>T (p.Arg4022Leu) c.2532G>T n.200G>T c.12038G>T (p.Arg4013Leu) c.12314G>T (p.Arg4105Leu) c.12311G>T (p.Arg4104Leu) c.12269G>T (p.Arg4090Leu) c.12266G>T (p.Arg4089Leu) c.12263G>T (p.Arg4088Leu) c.12215G>T (p.Arg4072Leu) c.11912G>T (p.Arg3971Leu) c.12446G>T (p.Arg4149Leu) c.12443G>T (p.Arg4148Leu) c.12425G>T (p.Arg4142Leu) c.12401G>T (p.Arg4134Leu) c.12398G>T (p.Arg4133Leu) c.12395G>T (p.Arg4132Leu) c.12347G>T (p.Arg4116Leu) c.12335G>T (p.Arg4112Leu) c.12197G>T (p.Arg4066Leu) c.12044G>T (p.Arg4015Leu) | dbSNP |
X | g.53537628C= | CA2429870462 | HUWE1 | c.11849G= (p.Arg3950=) c.12065G= (p.Arg4022=) c.2532G= n.200G= c.12038G= (p.Arg4013=) c.12314G= (p.Arg4105=) c.12311G= (p.Arg4104=) c.12269G= (p.Arg4090=) c.12266G= (p.Arg4089=) c.12263G= (p.Arg4088=) c.12215G= (p.Arg4072=) c.11912G= (p.Arg3971=) c.12446G= (p.Arg4149=) c.12443G= (p.Arg4148=) c.12425G= (p.Arg4142=) c.12401G= (p.Arg4134=) c.12398G= (p.Arg4133=) c.12395G= (p.Arg4132=) c.12347G= (p.Arg4116=) c.12335G= (p.Arg4112=) c.12197G= (p.Arg4066=) c.12044G= (p.Arg4015=) | |
X | g.53537628C>G | CA413155464 | HUWE1 | c.11849G>C (p.Arg3950Pro) c.12065G>C (p.Arg4022Pro) c.2532G>C n.200G>C c.12038G>C (p.Arg4013Pro) c.12314G>C (p.Arg4105Pro) c.12311G>C (p.Arg4104Pro) c.12269G>C (p.Arg4090Pro) c.12266G>C (p.Arg4089Pro) c.12263G>C (p.Arg4088Pro) c.12215G>C (p.Arg4072Pro) c.11912G>C (p.Arg3971Pro) c.12446G>C (p.Arg4149Pro) c.12443G>C (p.Arg4148Pro) c.12425G>C (p.Arg4142Pro) c.12401G>C (p.Arg4134Pro) c.12398G>C (p.Arg4133Pro) c.12395G>C (p.Arg4132Pro) c.12347G>C (p.Arg4116Pro) c.12335G>C (p.Arg4112Pro) c.12197G>C (p.Arg4066Pro) c.12044G>C (p.Arg4015Pro) | |
X | g.53537628C>T | CA413155455 | HUWE1 | c.11849G>A (p.Arg3950His) c.12065G>A (p.Arg4022His) c.2532G>A n.200G>A c.12038G>A (p.Arg4013His) c.12314G>A (p.Arg4105His) c.12311G>A (p.Arg4104His) c.12269G>A (p.Arg4090His) c.12266G>A (p.Arg4089His) c.12263G>A (p.Arg4088His) c.12215G>A (p.Arg4072His) c.11912G>A (p.Arg3971His) c.12446G>A (p.Arg4149His) c.12443G>A (p.Arg4148His) c.12425G>A (p.Arg4142His) c.12401G>A (p.Arg4134His) c.12398G>A (p.Arg4133His) c.12395G>A (p.Arg4132His) c.12347G>A (p.Arg4116His) c.12335G>A (p.Arg4112His) c.12197G>A (p.Arg4066His) c.12044G>A (p.Arg4015His) | gnomAD v4 |
X | g.53537629G>A | CA413155468 | HUWE1 | c.11848C>T (p.Arg3950Cys) c.12064C>T (p.Arg4022Cys) c.2531C>T n.199C>T c.12037C>T (p.Arg4013Cys) c.12313C>T (p.Arg4105Cys) c.12310C>T (p.Arg4104Cys) c.12268C>T (p.Arg4090Cys) c.12265C>T (p.Arg4089Cys) c.12262C>T (p.Arg4088Cys) c.12214C>T (p.Arg4072Cys) c.11911C>T (p.Arg3971Cys) c.12445C>T (p.Arg4149Cys) c.12442C>T (p.Arg4148Cys) c.12424C>T (p.Arg4142Cys) c.12400C>T (p.Arg4134Cys) c.12397C>T (p.Arg4133Cys) c.12394C>T (p.Arg4132Cys) c.12346C>T (p.Arg4116Cys) c.12334C>T (p.Arg4112Cys) c.12196C>T (p.Arg4066Cys) c.12043C>T (p.Arg4015Cys) | COSMIC COSMIC |
X | g.53537629G>C | CA413155472 | HUWE1 | c.11848C>G (p.Arg3950Gly) c.12064C>G (p.Arg4022Gly) c.2531C>G n.199C>G c.12037C>G (p.Arg4013Gly) c.12313C>G (p.Arg4105Gly) c.12310C>G (p.Arg4104Gly) c.12268C>G (p.Arg4090Gly) c.12265C>G (p.Arg4089Gly) c.12262C>G (p.Arg4088Gly) c.12214C>G (p.Arg4072Gly) c.11911C>G (p.Arg3971Gly) c.12445C>G (p.Arg4149Gly) c.12442C>G (p.Arg4148Gly) c.12424C>G (p.Arg4142Gly) c.12400C>G (p.Arg4134Gly) c.12397C>G (p.Arg4133Gly) c.12394C>G (p.Arg4132Gly) c.12346C>G (p.Arg4116Gly) c.12334C>G (p.Arg4112Gly) c.12196C>G (p.Arg4066Gly) c.12043C>G (p.Arg4015Gly) | |
X | g.53537629G>T | CA413155480 | HUWE1 | c.11848C>A (p.Arg3950Ser) c.12064C>A (p.Arg4022Ser) c.2531C>A n.199C>A c.12037C>A (p.Arg4013Ser) c.12313C>A (p.Arg4105Ser) c.12310C>A (p.Arg4104Ser) c.12268C>A (p.Arg4090Ser) c.12265C>A (p.Arg4089Ser) c.12262C>A (p.Arg4088Ser) c.12214C>A (p.Arg4072Ser) c.11911C>A (p.Arg3971Ser) c.12445C>A (p.Arg4149Ser) c.12442C>A (p.Arg4148Ser) c.12424C>A (p.Arg4142Ser) c.12400C>A (p.Arg4134Ser) c.12397C>A (p.Arg4133Ser) c.12394C>A (p.Arg4132Ser) c.12346C>A (p.Arg4116Ser) c.12334C>A (p.Arg4112Ser) c.12196C>A (p.Arg4066Ser) c.12043C>A (p.Arg4015Ser) | |
X | g.53537630del | CA2579616695 | HUWE1 | c.11848del (p.Arg3950ValfsTer21) c.12064del (p.Arg4022ValfsTer21) c.2531del n.199del c.12037del (p.Arg4013ValfsTer21) c.12313del (p.Arg4105ValfsTer21) c.12310del (p.Arg4104ValfsTer21) c.12268del (p.Arg4090ValfsTer21) c.12265del (p.Arg4089ValfsTer21) c.12262del (p.Arg4088ValfsTer21) c.12214del (p.Arg4072ValfsTer21) c.11911del (p.Arg3971ValfsTer21) c.12445del (p.Arg4149ValfsTer21) c.12442del (p.Arg4148ValfsTer21) c.12424del (p.Arg4142ValfsTer21) c.12400del (p.Arg4134ValfsTer21) c.12397del (p.Arg4133ValfsTer21) c.12394del (p.Arg4132ValfsTer21) c.12346del (p.Arg4116ValfsTer21) c.12334del (p.Arg4112ValfsTer21) c.12196del (p.Arg4066ValfsTer21) c.12043del (p.Arg4015ValfsTer21) | |
X | g.53537630G>A | CA516423840 | HUWE1 | c.11847C>T (p.Val3949=) c.12063C>T (p.Val4021=) c.2530C>T n.198C>T c.12036C>T (p.Val4012=) c.12312C>T (p.Val4104=) c.12309C>T (p.Val4103=) c.12267C>T (p.Val4089=) c.12264C>T (p.Val4088=) c.12261C>T (p.Val4087=) c.12213C>T (p.Val4071=) c.11910C>T (p.Val3970=) c.12444C>T (p.Val4148=) c.12441C>T (p.Val4147=) c.12423C>T (p.Val4141=) c.12399C>T (p.Val4133=) c.12396C>T (p.Val4132=) c.12393C>T (p.Val4131=) c.12345C>T (p.Val4115=) c.12333C>T (p.Val4111=) c.12195C>T (p.Val4065=) c.12042C>T (p.Val4014=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53537630G>C | CA516423841 | HUWE1 | c.11847C>G (p.Val3949=) c.12063C>G (p.Val4021=) c.2530C>G n.198C>G c.12036C>G (p.Val4012=) c.12312C>G (p.Val4104=) c.12309C>G (p.Val4103=) c.12267C>G (p.Val4089=) c.12264C>G (p.Val4088=) c.12261C>G (p.Val4087=) c.12213C>G (p.Val4071=) c.11910C>G (p.Val3970=) c.12444C>G (p.Val4148=) c.12441C>G (p.Val4147=) c.12423C>G (p.Val4141=) c.12399C>G (p.Val4133=) c.12396C>G (p.Val4132=) c.12393C>G (p.Val4131=) c.12345C>G (p.Val4115=) c.12333C>G (p.Val4111=) c.12195C>G (p.Val4065=) c.12042C>G (p.Val4014=) | |
X | g.53537630G= | CA2429870463 | HUWE1 | c.11847C= (p.Val3949=) c.12063C= (p.Val4021=) c.2530C= n.198C= c.12036C= (p.Val4012=) c.12312C= (p.Val4104=) c.12309C= (p.Val4103=) c.12267C= (p.Val4089=) c.12264C= (p.Val4088=) c.12261C= (p.Val4087=) c.12213C= (p.Val4071=) c.11910C= (p.Val3970=) c.12444C= (p.Val4148=) c.12441C= (p.Val4147=) c.12423C= (p.Val4141=) c.12399C= (p.Val4133=) c.12396C= (p.Val4132=) c.12393C= (p.Val4131=) c.12345C= (p.Val4115=) c.12333C= (p.Val4111=) c.12195C= (p.Val4065=) c.12042C= (p.Val4014=) | |
X | g.53537630G>T | CA516423842 | HUWE1 | c.11847C>A (p.Val3949=) c.12063C>A (p.Val4021=) c.2530C>A n.198C>A c.12036C>A (p.Val4012=) c.12312C>A (p.Val4104=) c.12309C>A (p.Val4103=) c.12267C>A (p.Val4089=) c.12264C>A (p.Val4088=) c.12261C>A (p.Val4087=) c.12213C>A (p.Val4071=) c.11910C>A (p.Val3970=) c.12444C>A (p.Val4148=) c.12441C>A (p.Val4147=) c.12423C>A (p.Val4141=) c.12399C>A (p.Val4133=) c.12396C>A (p.Val4132=) c.12393C>A (p.Val4131=) c.12345C>A (p.Val4115=) c.12333C>A (p.Val4111=) c.12195C>A (p.Val4065=) c.12042C>A (p.Val4014=) | |
X | g.53537631A>C | CA413155484 | HUWE1 | c.11846T>G (p.Val3949Gly) c.12062T>G (p.Val4021Gly) c.2529T>G n.197T>G c.12035T>G (p.Val4012Gly) c.12311T>G (p.Val4104Gly) c.12308T>G (p.Val4103Gly) c.12266T>G (p.Val4089Gly) c.12263T>G (p.Val4088Gly) c.12260T>G (p.Val4087Gly) c.12212T>G (p.Val4071Gly) c.11909T>G (p.Val3970Gly) c.12443T>G (p.Val4148Gly) c.12440T>G (p.Val4147Gly) c.12422T>G (p.Val4141Gly) c.12398T>G (p.Val4133Gly) c.12395T>G (p.Val4132Gly) c.12392T>G (p.Val4131Gly) c.12344T>G (p.Val4115Gly) c.12332T>G (p.Val4111Gly) c.12194T>G (p.Val4065Gly) c.12041T>G (p.Val4014Gly) | |
X | g.53537631A>G | CA413155486 | HUWE1 | c.11846T>C (p.Val3949Ala) c.12062T>C (p.Val4021Ala) c.2529T>C n.197T>C c.12035T>C (p.Val4012Ala) c.12311T>C (p.Val4104Ala) c.12308T>C (p.Val4103Ala) c.12266T>C (p.Val4089Ala) c.12263T>C (p.Val4088Ala) c.12260T>C (p.Val4087Ala) c.12212T>C (p.Val4071Ala) c.11909T>C (p.Val3970Ala) c.12443T>C (p.Val4148Ala) c.12440T>C (p.Val4147Ala) c.12422T>C (p.Val4141Ala) c.12398T>C (p.Val4133Ala) c.12395T>C (p.Val4132Ala) c.12392T>C (p.Val4131Ala) c.12344T>C (p.Val4115Ala) c.12332T>C (p.Val4111Ala) c.12194T>C (p.Val4065Ala) c.12041T>C (p.Val4014Ala) | |
X | g.53537631A>T | CA413155490 | HUWE1 | c.11846T>A (p.Val3949Asp) c.12062T>A (p.Val4021Asp) c.2529T>A n.197T>A c.12035T>A (p.Val4012Asp) c.12311T>A (p.Val4104Asp) c.12308T>A (p.Val4103Asp) c.12266T>A (p.Val4089Asp) c.12263T>A (p.Val4088Asp) c.12260T>A (p.Val4087Asp) c.12212T>A (p.Val4071Asp) c.11909T>A (p.Val3970Asp) c.12443T>A (p.Val4148Asp) c.12440T>A (p.Val4147Asp) c.12422T>A (p.Val4141Asp) c.12398T>A (p.Val4133Asp) c.12395T>A (p.Val4132Asp) c.12392T>A (p.Val4131Asp) c.12344T>A (p.Val4115Asp) c.12332T>A (p.Val4111Asp) c.12194T>A (p.Val4065Asp) c.12041T>A (p.Val4014Asp) | |
X | g.53537632C>A | CA413155497 | HUWE1 | c.11845G>T (p.Val3949Phe) c.12061G>T (p.Val4021Phe) c.2528G>T n.196G>T c.12034G>T (p.Val4012Phe) c.12310G>T (p.Val4104Phe) c.12307G>T (p.Val4103Phe) c.12265G>T (p.Val4089Phe) c.12262G>T (p.Val4088Phe) c.12259G>T (p.Val4087Phe) c.12211G>T (p.Val4071Phe) c.11908G>T (p.Val3970Phe) c.12442G>T (p.Val4148Phe) c.12439G>T (p.Val4147Phe) c.12421G>T (p.Val4141Phe) c.12397G>T (p.Val4133Phe) c.12394G>T (p.Val4132Phe) c.12391G>T (p.Val4131Phe) c.12343G>T (p.Val4115Phe) c.12331G>T (p.Val4111Phe) c.12193G>T (p.Val4065Phe) c.12040G>T (p.Val4014Phe) | |
X | g.53537632C>G | CA413155501 | HUWE1 | c.11845G>C (p.Val3949Leu) c.12061G>C (p.Val4021Leu) c.2528G>C n.196G>C c.12034G>C (p.Val4012Leu) c.12310G>C (p.Val4104Leu) c.12307G>C (p.Val4103Leu) c.12265G>C (p.Val4089Leu) c.12262G>C (p.Val4088Leu) c.12259G>C (p.Val4087Leu) c.12211G>C (p.Val4071Leu) c.11908G>C (p.Val3970Leu) c.12442G>C (p.Val4148Leu) c.12439G>C (p.Val4147Leu) c.12421G>C (p.Val4141Leu) c.12397G>C (p.Val4133Leu) c.12394G>C (p.Val4132Leu) c.12391G>C (p.Val4131Leu) c.12343G>C (p.Val4115Leu) c.12331G>C (p.Val4111Leu) c.12193G>C (p.Val4065Leu) c.12040G>C (p.Val4014Leu) | |
X | g.53537632C>T | CA413155512 | HUWE1 | c.11845G>A (p.Val3949Ile) c.12061G>A (p.Val4021Ile) c.2528G>A n.196G>A c.12034G>A (p.Val4012Ile) c.12310G>A (p.Val4104Ile) c.12307G>A (p.Val4103Ile) c.12265G>A (p.Val4089Ile) c.12262G>A (p.Val4088Ile) c.12259G>A (p.Val4087Ile) c.12211G>A (p.Val4071Ile) c.11908G>A (p.Val3970Ile) c.12442G>A (p.Val4148Ile) c.12439G>A (p.Val4147Ile) c.12421G>A (p.Val4141Ile) c.12397G>A (p.Val4133Ile) c.12394G>A (p.Val4132Ile) c.12391G>A (p.Val4131Ile) c.12343G>A (p.Val4115Ile) c.12331G>A (p.Val4111Ile) c.12193G>A (p.Val4065Ile) c.12040G>A (p.Val4014Ile) | gnomAD v4 |
X | g.53537633A>C | CA413155516 | HUWE1 | c.11844T>G (p.His3948Gln) c.12060T>G (p.His4020Gln) c.2527T>G n.195T>G c.12033T>G (p.His4011Gln) c.12309T>G (p.His4103Gln) c.12306T>G (p.His4102Gln) c.12264T>G (p.His4088Gln) c.12261T>G (p.His4087Gln) c.12258T>G (p.His4086Gln) c.12210T>G (p.His4070Gln) c.11907T>G (p.His3969Gln) c.12441T>G (p.His4147Gln) c.12438T>G (p.His4146Gln) c.12420T>G (p.His4140Gln) c.12396T>G (p.His4132Gln) c.12393T>G (p.His4131Gln) c.12390T>G (p.His4130Gln) c.12342T>G (p.His4114Gln) c.12330T>G (p.His4110Gln) c.12192T>G (p.His4064Gln) c.12039T>G (p.His4013Gln) | |
X | g.53537633A>G | CA516423853 | HUWE1 | c.11844T>C (p.His3948=) c.12060T>C (p.His4020=) c.2527T>C n.195T>C c.12033T>C (p.His4011=) c.12309T>C (p.His4103=) c.12306T>C (p.His4102=) c.12264T>C (p.His4088=) c.12261T>C (p.His4087=) c.12258T>C (p.His4086=) c.12210T>C (p.His4070=) c.11907T>C (p.His3969=) c.12441T>C (p.His4147=) c.12438T>C (p.His4146=) c.12420T>C (p.His4140=) c.12396T>C (p.His4132=) c.12393T>C (p.His4131=) c.12390T>C (p.His4130=) c.12342T>C (p.His4114=) c.12330T>C (p.His4110=) c.12192T>C (p.His4064=) c.12039T>C (p.His4013=) | |
X | g.53537633A>T | CA413155520 | HUWE1 | c.11844T>A (p.His3948Gln) c.12060T>A (p.His4020Gln) c.2527T>A n.195T>A c.12033T>A (p.His4011Gln) c.12309T>A (p.His4103Gln) c.12306T>A (p.His4102Gln) c.12264T>A (p.His4088Gln) c.12261T>A (p.His4087Gln) c.12258T>A (p.His4086Gln) c.12210T>A (p.His4070Gln) c.11907T>A (p.His3969Gln) c.12441T>A (p.His4147Gln) c.12438T>A (p.His4146Gln) c.12420T>A (p.His4140Gln) c.12396T>A (p.His4132Gln) c.12393T>A (p.His4131Gln) c.12390T>A (p.His4130Gln) c.12342T>A (p.His4114Gln) c.12330T>A (p.His4110Gln) c.12192T>A (p.His4064Gln) c.12039T>A (p.His4013Gln) | |
X | g.53537634T>A | CA413155542 | HUWE1 | c.11843A>T (p.His3948Leu) c.12059A>T (p.His4020Leu) c.2526A>T n.194A>T c.12032A>T (p.His4011Leu) c.12308A>T (p.His4103Leu) c.12305A>T (p.His4102Leu) c.12263A>T (p.His4088Leu) c.12260A>T (p.His4087Leu) c.12257A>T (p.His4086Leu) c.12209A>T (p.His4070Leu) c.11906A>T (p.His3969Leu) c.12440A>T (p.His4147Leu) c.12437A>T (p.His4146Leu) c.12419A>T (p.His4140Leu) c.12395A>T (p.His4132Leu) c.12392A>T (p.His4131Leu) c.12389A>T (p.His4130Leu) c.12341A>T (p.His4114Leu) c.12329A>T (p.His4110Leu) c.12191A>T (p.His4064Leu) c.12038A>T (p.His4013Leu) | |
X | g.53537634T>C | CA413155537 | HUWE1 | c.11843A>G (p.His3948Arg) c.12059A>G (p.His4020Arg) c.2526A>G n.194A>G c.12032A>G (p.His4011Arg) c.12308A>G (p.His4103Arg) c.12305A>G (p.His4102Arg) c.12263A>G (p.His4088Arg) c.12260A>G (p.His4087Arg) c.12257A>G (p.His4086Arg) c.12209A>G (p.His4070Arg) c.11906A>G (p.His3969Arg) c.12440A>G (p.His4147Arg) c.12437A>G (p.His4146Arg) c.12419A>G (p.His4140Arg) c.12395A>G (p.His4132Arg) c.12392A>G (p.His4131Arg) c.12389A>G (p.His4130Arg) c.12341A>G (p.His4114Arg) c.12329A>G (p.His4110Arg) c.12191A>G (p.His4064Arg) c.12038A>G (p.His4013Arg) | |
X | g.53537634T>G | CA413155528 | HUWE1 | c.11843A>C (p.His3948Pro) c.12059A>C (p.His4020Pro) c.2526A>C n.194A>C c.12032A>C (p.His4011Pro) c.12308A>C (p.His4103Pro) c.12305A>C (p.His4102Pro) c.12263A>C (p.His4088Pro) c.12260A>C (p.His4087Pro) c.12257A>C (p.His4086Pro) c.12209A>C (p.His4070Pro) c.11906A>C (p.His3969Pro) c.12440A>C (p.His4147Pro) c.12437A>C (p.His4146Pro) c.12419A>C (p.His4140Pro) c.12395A>C (p.His4132Pro) c.12392A>C (p.His4131Pro) c.12389A>C (p.His4130Pro) c.12341A>C (p.His4114Pro) c.12329A>C (p.His4110Pro) c.12191A>C (p.His4064Pro) c.12038A>C (p.His4013Pro) | |
X | g.53537635G>A | CA413155549 | HUWE1 | c.11842C>T (p.His3948Tyr) c.12058C>T (p.His4020Tyr) c.2525C>T n.193C>T c.12031C>T (p.His4011Tyr) c.12307C>T (p.His4103Tyr) c.12304C>T (p.His4102Tyr) c.12262C>T (p.His4088Tyr) c.12259C>T (p.His4087Tyr) c.12256C>T (p.His4086Tyr) c.12208C>T (p.His4070Tyr) c.11905C>T (p.His3969Tyr) c.12439C>T (p.His4147Tyr) c.12436C>T (p.His4146Tyr) c.12418C>T (p.His4140Tyr) c.12394C>T (p.His4132Tyr) c.12391C>T (p.His4131Tyr) c.12388C>T (p.His4130Tyr) c.12340C>T (p.His4114Tyr) c.12328C>T (p.His4110Tyr) c.12190C>T (p.His4064Tyr) c.12037C>T (p.His4013Tyr) | |
X | g.53537635G>C | CA413155556 | HUWE1 | c.11842C>G (p.His3948Asp) c.12058C>G (p.His4020Asp) c.2525C>G n.193C>G c.12031C>G (p.His4011Asp) c.12307C>G (p.His4103Asp) c.12304C>G (p.His4102Asp) c.12262C>G (p.His4088Asp) c.12259C>G (p.His4087Asp) c.12256C>G (p.His4086Asp) c.12208C>G (p.His4070Asp) c.11905C>G (p.His3969Asp) c.12439C>G (p.His4147Asp) c.12436C>G (p.His4146Asp) c.12418C>G (p.His4140Asp) c.12394C>G (p.His4132Asp) c.12391C>G (p.His4131Asp) c.12388C>G (p.His4130Asp) c.12340C>G (p.His4114Asp) c.12328C>G (p.His4110Asp) c.12190C>G (p.His4064Asp) c.12037C>G (p.His4013Asp) | |
X | g.53537635G>T | CA413155566 | HUWE1 | c.11842C>A (p.His3948Asn) c.12058C>A (p.His4020Asn) c.2525C>A n.193C>A c.12031C>A (p.His4011Asn) c.12307C>A (p.His4103Asn) c.12304C>A (p.His4102Asn) c.12262C>A (p.His4088Asn) c.12259C>A (p.His4087Asn) c.12256C>A (p.His4086Asn) c.12208C>A (p.His4070Asn) c.11905C>A (p.His3969Asn) c.12439C>A (p.His4147Asn) c.12436C>A (p.His4146Asn) c.12418C>A (p.His4140Asn) c.12394C>A (p.His4132Asn) c.12391C>A (p.His4131Asn) c.12388C>A (p.His4130Asn) c.12340C>A (p.His4114Asn) c.12328C>A (p.His4110Asn) c.12190C>A (p.His4064Asn) c.12037C>A (p.His4013Asn) | |
X | g.53537636C>A | CA329184709 | HUWE1 | c.11841G>T (p.Val3947=) c.12057G>T (p.Val4019=) c.2524G>T n.192G>T c.12030G>T (p.Val4010=) c.12306G>T (p.Val4102=) c.12303G>T (p.Val4101=) c.12261G>T (p.Val4087=) c.12258G>T (p.Val4086=) c.12255G>T (p.Val4085=) c.12207G>T (p.Val4069=) c.11904G>T (p.Val3968=) c.12438G>T (p.Val4146=) c.12435G>T (p.Val4145=) c.12417G>T (p.Val4139=) c.12393G>T (p.Val4131=) c.12390G>T (p.Val4130=) c.12387G>T (p.Val4129=) c.12339G>T (p.Val4113=) c.12327G>T (p.Val4109=) c.12189G>T (p.Val4063=) c.12036G>T (p.Val4012=) | dbSNP |
X | g.53537636C= | CA2429870464 | HUWE1 | c.11841G= (p.Val3947=) c.12057G= (p.Val4019=) c.2524G= n.192G= c.12030G= (p.Val4010=) c.12306G= (p.Val4102=) c.12303G= (p.Val4101=) c.12261G= (p.Val4087=) c.12258G= (p.Val4086=) c.12255G= (p.Val4085=) c.12207G= (p.Val4069=) c.11904G= (p.Val3968=) c.12438G= (p.Val4146=) c.12435G= (p.Val4145=) c.12417G= (p.Val4139=) c.12393G= (p.Val4131=) c.12390G= (p.Val4130=) c.12387G= (p.Val4129=) c.12339G= (p.Val4113=) c.12327G= (p.Val4109=) c.12189G= (p.Val4063=) c.12036G= (p.Val4012=) | |
X | g.53537636C>G | CA516423866 | HUWE1 | c.11841G>C (p.Val3947=) c.12057G>C (p.Val4019=) c.2524G>C n.192G>C c.12030G>C (p.Val4010=) c.12306G>C (p.Val4102=) c.12303G>C (p.Val4101=) c.12261G>C (p.Val4087=) c.12258G>C (p.Val4086=) c.12255G>C (p.Val4085=) c.12207G>C (p.Val4069=) c.11904G>C (p.Val3968=) c.12438G>C (p.Val4146=) c.12435G>C (p.Val4145=) c.12417G>C (p.Val4139=) c.12393G>C (p.Val4131=) c.12390G>C (p.Val4130=) c.12387G>C (p.Val4129=) c.12339G>C (p.Val4113=) c.12327G>C (p.Val4109=) c.12189G>C (p.Val4063=) c.12036G>C (p.Val4012=) | |
X | g.53537636C>T | CA516423868 | HUWE1 | c.11841G>A (p.Val3947=) c.12057G>A (p.Val4019=) c.2524G>A n.192G>A c.12030G>A (p.Val4010=) c.12306G>A (p.Val4102=) c.12303G>A (p.Val4101=) c.12261G>A (p.Val4087=) c.12258G>A (p.Val4086=) c.12255G>A (p.Val4085=) c.12207G>A (p.Val4069=) c.11904G>A (p.Val3968=) c.12438G>A (p.Val4146=) c.12435G>A (p.Val4145=) c.12417G>A (p.Val4139=) c.12393G>A (p.Val4131=) c.12390G>A (p.Val4130=) c.12387G>A (p.Val4129=) c.12339G>A (p.Val4113=) c.12327G>A (p.Val4109=) c.12189G>A (p.Val4063=) c.12036G>A (p.Val4012=) | |
X | g.53537637A>C | CA413155595 | HUWE1 | c.11840T>G (p.Val3947Gly) c.12056T>G (p.Val4019Gly) c.2523T>G n.191T>G c.12029T>G (p.Val4010Gly) c.12305T>G (p.Val4102Gly) c.12302T>G (p.Val4101Gly) c.12260T>G (p.Val4087Gly) c.12257T>G (p.Val4086Gly) c.12254T>G (p.Val4085Gly) c.12206T>G (p.Val4069Gly) c.11903T>G (p.Val3968Gly) c.12437T>G (p.Val4146Gly) c.12434T>G (p.Val4145Gly) c.12416T>G (p.Val4139Gly) c.12392T>G (p.Val4131Gly) c.12389T>G (p.Val4130Gly) c.12386T>G (p.Val4129Gly) c.12338T>G (p.Val4113Gly) c.12326T>G (p.Val4109Gly) c.12188T>G (p.Val4063Gly) c.12035T>G (p.Val4012Gly) | |
X | g.53537637A>G | CA413155599 | HUWE1 | c.11840T>C (p.Val3947Ala) c.12056T>C (p.Val4019Ala) c.2523T>C n.191T>C c.12029T>C (p.Val4010Ala) c.12305T>C (p.Val4102Ala) c.12302T>C (p.Val4101Ala) c.12260T>C (p.Val4087Ala) c.12257T>C (p.Val4086Ala) c.12254T>C (p.Val4085Ala) c.12206T>C (p.Val4069Ala) c.11903T>C (p.Val3968Ala) c.12437T>C (p.Val4146Ala) c.12434T>C (p.Val4145Ala) c.12416T>C (p.Val4139Ala) c.12392T>C (p.Val4131Ala) c.12389T>C (p.Val4130Ala) c.12386T>C (p.Val4129Ala) c.12338T>C (p.Val4113Ala) c.12326T>C (p.Val4109Ala) c.12188T>C (p.Val4063Ala) c.12035T>C (p.Val4012Ala) | |
X | g.53537637A>T | CA413155602 | HUWE1 | c.11840T>A (p.Val3947Glu) c.12056T>A (p.Val4019Glu) c.2523T>A n.191T>A c.12029T>A (p.Val4010Glu) c.12305T>A (p.Val4102Glu) c.12302T>A (p.Val4101Glu) c.12260T>A (p.Val4087Glu) c.12257T>A (p.Val4086Glu) c.12254T>A (p.Val4085Glu) c.12206T>A (p.Val4069Glu) c.11903T>A (p.Val3968Glu) c.12437T>A (p.Val4146Glu) c.12434T>A (p.Val4145Glu) c.12416T>A (p.Val4139Glu) c.12392T>A (p.Val4131Glu) c.12389T>A (p.Val4130Glu) c.12386T>A (p.Val4129Glu) c.12338T>A (p.Val4113Glu) c.12326T>A (p.Val4109Glu) c.12188T>A (p.Val4063Glu) c.12035T>A (p.Val4012Glu) | |
X | g.53537638C>A | CA413155603 | HUWE1 | c.11839G>T (p.Val3947Leu) c.12055G>T (p.Val4019Leu) c.2522G>T n.190G>T c.12028G>T (p.Val4010Leu) c.12304G>T (p.Val4102Leu) c.12301G>T (p.Val4101Leu) c.12259G>T (p.Val4087Leu) c.12256G>T (p.Val4086Leu) c.12253G>T (p.Val4085Leu) c.12205G>T (p.Val4069Leu) c.11902G>T (p.Val3968Leu) c.12436G>T (p.Val4146Leu) c.12433G>T (p.Val4145Leu) c.12415G>T (p.Val4139Leu) c.12391G>T (p.Val4131Leu) c.12388G>T (p.Val4130Leu) c.12385G>T (p.Val4129Leu) c.12337G>T (p.Val4113Leu) c.12325G>T (p.Val4109Leu) c.12187G>T (p.Val4063Leu) c.12034G>T (p.Val4012Leu) | |
X | g.53537638C>G | CA413155604 | HUWE1 | c.11839G>C (p.Val3947Leu) c.12055G>C (p.Val4019Leu) c.2522G>C n.190G>C c.12028G>C (p.Val4010Leu) c.12304G>C (p.Val4102Leu) c.12301G>C (p.Val4101Leu) c.12259G>C (p.Val4087Leu) c.12256G>C (p.Val4086Leu) c.12253G>C (p.Val4085Leu) c.12205G>C (p.Val4069Leu) c.11902G>C (p.Val3968Leu) c.12436G>C (p.Val4146Leu) c.12433G>C (p.Val4145Leu) c.12415G>C (p.Val4139Leu) c.12391G>C (p.Val4131Leu) c.12388G>C (p.Val4130Leu) c.12385G>C (p.Val4129Leu) c.12337G>C (p.Val4113Leu) c.12325G>C (p.Val4109Leu) c.12187G>C (p.Val4063Leu) c.12034G>C (p.Val4012Leu) | |
X | g.53537638C>T | CA413155606 | HUWE1 | c.11839G>A (p.Val3947Met) c.12055G>A (p.Val4019Met) c.2522G>A n.190G>A c.12028G>A (p.Val4010Met) c.12304G>A (p.Val4102Met) c.12301G>A (p.Val4101Met) c.12259G>A (p.Val4087Met) c.12256G>A (p.Val4086Met) c.12253G>A (p.Val4085Met) c.12205G>A (p.Val4069Met) c.11902G>A (p.Val3968Met) c.12436G>A (p.Val4146Met) c.12433G>A (p.Val4145Met) c.12415G>A (p.Val4139Met) c.12391G>A (p.Val4131Met) c.12388G>A (p.Val4130Met) c.12385G>A (p.Val4129Met) c.12337G>A (p.Val4113Met) c.12325G>A (p.Val4109Met) c.12187G>A (p.Val4063Met) c.12034G>A (p.Val4012Met) | |
X | g.53537639A>C | CA516423876 | HUWE1 | c.11838T>G (p.Ala3946=) c.12054T>G (p.Ala4018=) c.2521T>G n.189T>G c.12027T>G (p.Ala4009=) c.12303T>G (p.Ala4101=) c.12300T>G (p.Ala4100=) c.12258T>G (p.Ala4086=) c.12255T>G (p.Ala4085=) c.12252T>G (p.Ala4084=) c.12204T>G (p.Ala4068=) c.11901T>G (p.Ala3967=) c.12435T>G (p.Ala4145=) c.12432T>G (p.Ala4144=) c.12414T>G (p.Ala4138=) c.12390T>G (p.Ala4130=) c.12387T>G (p.Ala4129=) c.12384T>G (p.Ala4128=) c.12336T>G (p.Ala4112=) c.12324T>G (p.Ala4108=) c.12186T>G (p.Ala4062=) c.12033T>G (p.Ala4011=) | |
X | g.53537639A>G | CA516423878 | HUWE1 | c.11838T>C (p.Ala3946=) c.12054T>C (p.Ala4018=) c.2521T>C n.189T>C c.12027T>C (p.Ala4009=) c.12303T>C (p.Ala4101=) c.12300T>C (p.Ala4100=) c.12258T>C (p.Ala4086=) c.12255T>C (p.Ala4085=) c.12252T>C (p.Ala4084=) c.12204T>C (p.Ala4068=) c.11901T>C (p.Ala3967=) c.12435T>C (p.Ala4145=) c.12432T>C (p.Ala4144=) c.12414T>C (p.Ala4138=) c.12390T>C (p.Ala4130=) c.12387T>C (p.Ala4129=) c.12384T>C (p.Ala4128=) c.12336T>C (p.Ala4112=) c.12324T>C (p.Ala4108=) c.12186T>C (p.Ala4062=) c.12033T>C (p.Ala4011=) | |
X | g.53537639A>T | CA516423881 | HUWE1 | c.11838T>A (p.Ala3946=) c.12054T>A (p.Ala4018=) c.2521T>A n.189T>A c.12027T>A (p.Ala4009=) c.12303T>A (p.Ala4101=) c.12300T>A (p.Ala4100=) c.12258T>A (p.Ala4086=) c.12255T>A (p.Ala4085=) c.12252T>A (p.Ala4084=) c.12204T>A (p.Ala4068=) c.11901T>A (p.Ala3967=) c.12435T>A (p.Ala4145=) c.12432T>A (p.Ala4144=) c.12414T>A (p.Ala4138=) c.12390T>A (p.Ala4130=) c.12387T>A (p.Ala4129=) c.12384T>A (p.Ala4128=) c.12336T>A (p.Ala4112=) c.12324T>A (p.Ala4108=) c.12186T>A (p.Ala4062=) c.12033T>A (p.Ala4011=) | |
X | g.53537640G>A | CA413155612 | HUWE1 | c.11837C>T (p.Ala3946Val) c.12053C>T (p.Ala4018Val) c.2520C>T n.188C>T c.12026C>T (p.Ala4009Val) c.12302C>T (p.Ala4101Val) c.12299C>T (p.Ala4100Val) c.12257C>T (p.Ala4086Val) c.12254C>T (p.Ala4085Val) c.12251C>T (p.Ala4084Val) c.12203C>T (p.Ala4068Val) c.11900C>T (p.Ala3967Val) c.12434C>T (p.Ala4145Val) c.12431C>T (p.Ala4144Val) c.12413C>T (p.Ala4138Val) c.12389C>T (p.Ala4130Val) c.12386C>T (p.Ala4129Val) c.12383C>T (p.Ala4128Val) c.12335C>T (p.Ala4112Val) c.12323C>T (p.Ala4108Val) c.12185C>T (p.Ala4062Val) c.12032C>T (p.Ala4011Val) | gnomAD v4 |
X | g.53537640G>C | CA413155615 | HUWE1 | c.11837C>G (p.Ala3946Gly) c.12053C>G (p.Ala4018Gly) c.2520C>G n.188C>G c.12026C>G (p.Ala4009Gly) c.12302C>G (p.Ala4101Gly) c.12299C>G (p.Ala4100Gly) c.12257C>G (p.Ala4086Gly) c.12254C>G (p.Ala4085Gly) c.12251C>G (p.Ala4084Gly) c.12203C>G (p.Ala4068Gly) c.11900C>G (p.Ala3967Gly) c.12434C>G (p.Ala4145Gly) c.12431C>G (p.Ala4144Gly) c.12413C>G (p.Ala4138Gly) c.12389C>G (p.Ala4130Gly) c.12386C>G (p.Ala4129Gly) c.12383C>G (p.Ala4128Gly) c.12335C>G (p.Ala4112Gly) c.12323C>G (p.Ala4108Gly) c.12185C>G (p.Ala4062Gly) c.12032C>G (p.Ala4011Gly) | |
X | g.53537640G>T | CA413155619 | HUWE1 | c.11837C>A (p.Ala3946Asp) c.12053C>A (p.Ala4018Asp) c.2520C>A n.188C>A c.12026C>A (p.Ala4009Asp) c.12302C>A (p.Ala4101Asp) c.12299C>A (p.Ala4100Asp) c.12257C>A (p.Ala4086Asp) c.12254C>A (p.Ala4085Asp) c.12251C>A (p.Ala4084Asp) c.12203C>A (p.Ala4068Asp) c.11900C>A (p.Ala3967Asp) c.12434C>A (p.Ala4145Asp) c.12431C>A (p.Ala4144Asp) c.12413C>A (p.Ala4138Asp) c.12389C>A (p.Ala4130Asp) c.12386C>A (p.Ala4129Asp) c.12383C>A (p.Ala4128Asp) c.12335C>A (p.Ala4112Asp) c.12323C>A (p.Ala4108Asp) c.12185C>A (p.Ala4062Asp) c.12032C>A (p.Ala4011Asp) | |
X | g.53537641C>A | CA413155632 | HUWE1 | c.11836G>T (p.Ala3946Ser) c.12052G>T (p.Ala4018Ser) c.2519G>T n.187G>T c.12025G>T (p.Ala4009Ser) c.12301G>T (p.Ala4101Ser) c.12298G>T (p.Ala4100Ser) c.12256G>T (p.Ala4086Ser) c.12253G>T (p.Ala4085Ser) c.12250G>T (p.Ala4084Ser) c.12202G>T (p.Ala4068Ser) c.11899G>T (p.Ala3967Ser) c.12433G>T (p.Ala4145Ser) c.12430G>T (p.Ala4144Ser) c.12412G>T (p.Ala4138Ser) c.12388G>T (p.Ala4130Ser) c.12385G>T (p.Ala4129Ser) c.12382G>T (p.Ala4128Ser) c.12334G>T (p.Ala4112Ser) c.12322G>T (p.Ala4108Ser) c.12184G>T (p.Ala4062Ser) c.12031G>T (p.Ala4011Ser) | |
X | g.53537641C>G | CA413155633 | HUWE1 | c.11836G>C (p.Ala3946Pro) c.12052G>C (p.Ala4018Pro) c.2519G>C n.187G>C c.12025G>C (p.Ala4009Pro) c.12301G>C (p.Ala4101Pro) c.12298G>C (p.Ala4100Pro) c.12256G>C (p.Ala4086Pro) c.12253G>C (p.Ala4085Pro) c.12250G>C (p.Ala4084Pro) c.12202G>C (p.Ala4068Pro) c.11899G>C (p.Ala3967Pro) c.12433G>C (p.Ala4145Pro) c.12430G>C (p.Ala4144Pro) c.12412G>C (p.Ala4138Pro) c.12388G>C (p.Ala4130Pro) c.12385G>C (p.Ala4129Pro) c.12382G>C (p.Ala4128Pro) c.12334G>C (p.Ala4112Pro) c.12322G>C (p.Ala4108Pro) c.12184G>C (p.Ala4062Pro) c.12031G>C (p.Ala4011Pro) | |
X | g.53537641C>T | CA413155625 | HUWE1 | c.11836G>A (p.Ala3946Thr) c.12052G>A (p.Ala4018Thr) c.2519G>A n.187G>A c.12025G>A (p.Ala4009Thr) c.12301G>A (p.Ala4101Thr) c.12298G>A (p.Ala4100Thr) c.12256G>A (p.Ala4086Thr) c.12253G>A (p.Ala4085Thr) c.12250G>A (p.Ala4084Thr) c.12202G>A (p.Ala4068Thr) c.11899G>A (p.Ala3967Thr) c.12433G>A (p.Ala4145Thr) c.12430G>A (p.Ala4144Thr) c.12412G>A (p.Ala4138Thr) c.12388G>A (p.Ala4130Thr) c.12385G>A (p.Ala4129Thr) c.12382G>A (p.Ala4128Thr) c.12334G>A (p.Ala4112Thr) c.12322G>A (p.Ala4108Thr) c.12184G>A (p.Ala4062Thr) c.12031G>A (p.Ala4011Thr) | |
X | g.53537642C>A | CA413155636 | HUWE1 | c.11835G>T (p.Met3945Ile) c.12051G>T (p.Met4017Ile) c.2518G>T n.186G>T c.12024G>T (p.Met4008Ile) c.12300G>T (p.Met4100Ile) c.12297G>T (p.Met4099Ile) c.12255G>T (p.Met4085Ile) c.12252G>T (p.Met4084Ile) c.12249G>T (p.Met4083Ile) c.12201G>T (p.Met4067Ile) c.11898G>T (p.Met3966Ile) c.12432G>T (p.Met4144Ile) c.12429G>T (p.Met4143Ile) c.12411G>T (p.Met4137Ile) c.12387G>T (p.Met4129Ile) c.12384G>T (p.Met4128Ile) c.12381G>T (p.Met4127Ile) c.12333G>T (p.Met4111Ile) c.12321G>T (p.Met4107Ile) c.12183G>T (p.Met4061Ile) c.12030G>T (p.Met4010Ile) | |
X | g.53537642C>G | CA413155639 | HUWE1 | c.11835G>C (p.Met3945Ile) c.12051G>C (p.Met4017Ile) c.2518G>C n.186G>C c.12024G>C (p.Met4008Ile) c.12300G>C (p.Met4100Ile) c.12297G>C (p.Met4099Ile) c.12255G>C (p.Met4085Ile) c.12252G>C (p.Met4084Ile) c.12249G>C (p.Met4083Ile) c.12201G>C (p.Met4067Ile) c.11898G>C (p.Met3966Ile) c.12432G>C (p.Met4144Ile) c.12429G>C (p.Met4143Ile) c.12411G>C (p.Met4137Ile) c.12387G>C (p.Met4129Ile) c.12384G>C (p.Met4128Ile) c.12381G>C (p.Met4127Ile) c.12333G>C (p.Met4111Ile) c.12321G>C (p.Met4107Ile) c.12183G>C (p.Met4061Ile) c.12030G>C (p.Met4010Ile) | |
X | g.53537642C>T | CA413155643 | HUWE1 | c.11835G>A (p.Met3945Ile) c.12051G>A (p.Met4017Ile) c.2518G>A n.186G>A c.12024G>A (p.Met4008Ile) c.12300G>A (p.Met4100Ile) c.12297G>A (p.Met4099Ile) c.12255G>A (p.Met4085Ile) c.12252G>A (p.Met4084Ile) c.12249G>A (p.Met4083Ile) c.12201G>A (p.Met4067Ile) c.11898G>A (p.Met3966Ile) c.12432G>A (p.Met4144Ile) c.12429G>A (p.Met4143Ile) c.12411G>A (p.Met4137Ile) c.12387G>A (p.Met4129Ile) c.12384G>A (p.Met4128Ile) c.12381G>A (p.Met4127Ile) c.12333G>A (p.Met4111Ile) c.12321G>A (p.Met4107Ile) c.12183G>A (p.Met4061Ile) c.12030G>A (p.Met4010Ile) | |
X | g.53537643A>C | CA413155650 | HUWE1 | c.11834T>G (p.Met3945Arg) c.12050T>G (p.Met4017Arg) c.2517T>G n.185T>G c.12023T>G (p.Met4008Arg) c.12299T>G (p.Met4100Arg) c.12296T>G (p.Met4099Arg) c.12254T>G (p.Met4085Arg) c.12251T>G (p.Met4084Arg) c.12248T>G (p.Met4083Arg) c.12200T>G (p.Met4067Arg) c.11897T>G (p.Met3966Arg) c.12431T>G (p.Met4144Arg) c.12428T>G (p.Met4143Arg) c.12410T>G (p.Met4137Arg) c.12386T>G (p.Met4129Arg) c.12383T>G (p.Met4128Arg) c.12380T>G (p.Met4127Arg) c.12332T>G (p.Met4111Arg) c.12320T>G (p.Met4107Arg) c.12182T>G (p.Met4061Arg) c.12029T>G (p.Met4010Arg) | |
X | g.53537643A>G | CA413155654 | HUWE1 | c.11834T>C (p.Met3945Thr) c.12050T>C (p.Met4017Thr) c.2517T>C n.185T>C c.12023T>C (p.Met4008Thr) c.12299T>C (p.Met4100Thr) c.12296T>C (p.Met4099Thr) c.12254T>C (p.Met4085Thr) c.12251T>C (p.Met4084Thr) c.12248T>C (p.Met4083Thr) c.12200T>C (p.Met4067Thr) c.11897T>C (p.Met3966Thr) c.12431T>C (p.Met4144Thr) c.12428T>C (p.Met4143Thr) c.12410T>C (p.Met4137Thr) c.12386T>C (p.Met4129Thr) c.12383T>C (p.Met4128Thr) c.12380T>C (p.Met4127Thr) c.12332T>C (p.Met4111Thr) c.12320T>C (p.Met4107Thr) c.12182T>C (p.Met4061Thr) c.12029T>C (p.Met4010Thr) | |
X | g.53537643A>T | CA413155661 | HUWE1 | c.11834T>A (p.Met3945Lys) c.12050T>A (p.Met4017Lys) c.2517T>A n.185T>A c.12023T>A (p.Met4008Lys) c.12299T>A (p.Met4100Lys) c.12296T>A (p.Met4099Lys) c.12254T>A (p.Met4085Lys) c.12251T>A (p.Met4084Lys) c.12248T>A (p.Met4083Lys) c.12200T>A (p.Met4067Lys) c.11897T>A (p.Met3966Lys) c.12431T>A (p.Met4144Lys) c.12428T>A (p.Met4143Lys) c.12410T>A (p.Met4137Lys) c.12386T>A (p.Met4129Lys) c.12383T>A (p.Met4128Lys) c.12380T>A (p.Met4127Lys) c.12332T>A (p.Met4111Lys) c.12320T>A (p.Met4107Lys) c.12182T>A (p.Met4061Lys) c.12029T>A (p.Met4010Lys) | |
X | g.53537644T>A | CA413155685 | HUWE1 | c.11833A>T (p.Met3945Leu) c.12049A>T (p.Met4017Leu) c.2516A>T n.184A>T c.12022A>T (p.Met4008Leu) c.12298A>T (p.Met4100Leu) c.12295A>T (p.Met4099Leu) c.12253A>T (p.Met4085Leu) c.12250A>T (p.Met4084Leu) c.12247A>T (p.Met4083Leu) c.12199A>T (p.Met4067Leu) c.11896A>T (p.Met3966Leu) c.12430A>T (p.Met4144Leu) c.12427A>T (p.Met4143Leu) c.12409A>T (p.Met4137Leu) c.12385A>T (p.Met4129Leu) c.12382A>T (p.Met4128Leu) c.12379A>T (p.Met4127Leu) c.12331A>T (p.Met4111Leu) c.12319A>T (p.Met4107Leu) c.12181A>T (p.Met4061Leu) c.12028A>T (p.Met4010Leu) | |
X | g.53537644T>C | CA413155670 | HUWE1 | c.11833A>G (p.Met3945Val) c.12049A>G (p.Met4017Val) c.2516A>G n.184A>G c.12022A>G (p.Met4008Val) c.12298A>G (p.Met4100Val) c.12295A>G (p.Met4099Val) c.12253A>G (p.Met4085Val) c.12250A>G (p.Met4084Val) c.12247A>G (p.Met4083Val) c.12199A>G (p.Met4067Val) c.11896A>G (p.Met3966Val) c.12430A>G (p.Met4144Val) c.12427A>G (p.Met4143Val) c.12409A>G (p.Met4137Val) c.12385A>G (p.Met4129Val) c.12382A>G (p.Met4128Val) c.12379A>G (p.Met4127Val) c.12331A>G (p.Met4111Val) c.12319A>G (p.Met4107Val) c.12181A>G (p.Met4061Val) c.12028A>G (p.Met4010Val) | gnomAD v4 |
X | g.53537644T>G | CA413155681 | HUWE1 | c.11833A>C (p.Met3945Leu) c.12049A>C (p.Met4017Leu) c.2516A>C n.184A>C c.12022A>C (p.Met4008Leu) c.12298A>C (p.Met4100Leu) c.12295A>C (p.Met4099Leu) c.12253A>C (p.Met4085Leu) c.12250A>C (p.Met4084Leu) c.12247A>C (p.Met4083Leu) c.12199A>C (p.Met4067Leu) c.11896A>C (p.Met3966Leu) c.12430A>C (p.Met4144Leu) c.12427A>C (p.Met4143Leu) c.12409A>C (p.Met4137Leu) c.12385A>C (p.Met4129Leu) c.12382A>C (p.Met4128Leu) c.12379A>C (p.Met4127Leu) c.12331A>C (p.Met4111Leu) c.12319A>C (p.Met4107Leu) c.12181A>C (p.Met4061Leu) c.12028A>C (p.Met4010Leu) | |
X | g.53537645G>A | CA516423901 | HUWE1 | c.11832C>T (p.Asp3944=) c.12048C>T (p.Asp4016=) c.2515C>T n.183C>T c.12021C>T (p.Asp4007=) c.12297C>T (p.Asp4099=) c.12294C>T (p.Asp4098=) c.12252C>T (p.Asp4084=) c.12249C>T (p.Asp4083=) c.12246C>T (p.Asp4082=) c.12198C>T (p.Asp4066=) c.11895C>T (p.Asp3965=) c.12429C>T (p.Asp4143=) c.12426C>T (p.Asp4142=) c.12408C>T (p.Asp4136=) c.12384C>T (p.Asp4128=) c.12381C>T (p.Asp4127=) c.12378C>T (p.Asp4126=) c.12330C>T (p.Asp4110=) c.12318C>T (p.Asp4106=) c.12180C>T (p.Asp4060=) c.12027C>T (p.Asp4009=) | |
X | g.53537645G>C | CA413155690 | HUWE1 | c.11832C>G (p.Asp3944Glu) c.12048C>G (p.Asp4016Glu) c.2515C>G n.183C>G c.12021C>G (p.Asp4007Glu) c.12297C>G (p.Asp4099Glu) c.12294C>G (p.Asp4098Glu) c.12252C>G (p.Asp4084Glu) c.12249C>G (p.Asp4083Glu) c.12246C>G (p.Asp4082Glu) c.12198C>G (p.Asp4066Glu) c.11895C>G (p.Asp3965Glu) c.12429C>G (p.Asp4143Glu) c.12426C>G (p.Asp4142Glu) c.12408C>G (p.Asp4136Glu) c.12384C>G (p.Asp4128Glu) c.12381C>G (p.Asp4127Glu) c.12378C>G (p.Asp4126Glu) c.12330C>G (p.Asp4110Glu) c.12318C>G (p.Asp4106Glu) c.12180C>G (p.Asp4060Glu) c.12027C>G (p.Asp4009Glu) | |
X | g.53537645G>T | CA413155692 | HUWE1 | c.11832C>A (p.Asp3944Glu) c.12048C>A (p.Asp4016Glu) c.2515C>A n.183C>A c.12021C>A (p.Asp4007Glu) c.12297C>A (p.Asp4099Glu) c.12294C>A (p.Asp4098Glu) c.12252C>A (p.Asp4084Glu) c.12249C>A (p.Asp4083Glu) c.12246C>A (p.Asp4082Glu) c.12198C>A (p.Asp4066Glu) c.11895C>A (p.Asp3965Glu) c.12429C>A (p.Asp4143Glu) c.12426C>A (p.Asp4142Glu) c.12408C>A (p.Asp4136Glu) c.12384C>A (p.Asp4128Glu) c.12381C>A (p.Asp4127Glu) c.12378C>A (p.Asp4126Glu) c.12330C>A (p.Asp4110Glu) c.12318C>A (p.Asp4106Glu) c.12180C>A (p.Asp4060Glu) c.12027C>A (p.Asp4009Glu) | gnomAD v4 |
X | g.53537646T>A | CA413155700 | HUWE1 | c.11831A>T (p.Asp3944Val) c.12047A>T (p.Asp4016Val) c.2514A>T n.182A>T c.12020A>T (p.Asp4007Val) c.12296A>T (p.Asp4099Val) c.12293A>T (p.Asp4098Val) c.12251A>T (p.Asp4084Val) c.12248A>T (p.Asp4083Val) c.12245A>T (p.Asp4082Val) c.12197A>T (p.Asp4066Val) c.11894A>T (p.Asp3965Val) c.12428A>T (p.Asp4143Val) c.12425A>T (p.Asp4142Val) c.12407A>T (p.Asp4136Val) c.12383A>T (p.Asp4128Val) c.12380A>T (p.Asp4127Val) c.12377A>T (p.Asp4126Val) c.12329A>T (p.Asp4110Val) c.12317A>T (p.Asp4106Val) c.12179A>T (p.Asp4060Val) c.12026A>T (p.Asp4009Val) | |
X | g.53537646T>C | CA413155703 | HUWE1 | c.11831A>G (p.Asp3944Gly) c.12047A>G (p.Asp4016Gly) c.2514A>G n.182A>G c.12020A>G (p.Asp4007Gly) c.12296A>G (p.Asp4099Gly) c.12293A>G (p.Asp4098Gly) c.12251A>G (p.Asp4084Gly) c.12248A>G (p.Asp4083Gly) c.12245A>G (p.Asp4082Gly) c.12197A>G (p.Asp4066Gly) c.11894A>G (p.Asp3965Gly) c.12428A>G (p.Asp4143Gly) c.12425A>G (p.Asp4142Gly) c.12407A>G (p.Asp4136Gly) c.12383A>G (p.Asp4128Gly) c.12380A>G (p.Asp4127Gly) c.12377A>G (p.Asp4126Gly) c.12329A>G (p.Asp4110Gly) c.12317A>G (p.Asp4106Gly) c.12179A>G (p.Asp4060Gly) c.12026A>G (p.Asp4009Gly) | |
X | g.53537646T>G | CA413155707 | HUWE1 | c.11831A>C (p.Asp3944Ala) c.12047A>C (p.Asp4016Ala) c.2514A>C n.182A>C c.12020A>C (p.Asp4007Ala) c.12296A>C (p.Asp4099Ala) c.12293A>C (p.Asp4098Ala) c.12251A>C (p.Asp4084Ala) c.12248A>C (p.Asp4083Ala) c.12245A>C (p.Asp4082Ala) c.12197A>C (p.Asp4066Ala) c.11894A>C (p.Asp3965Ala) c.12428A>C (p.Asp4143Ala) c.12425A>C (p.Asp4142Ala) c.12407A>C (p.Asp4136Ala) c.12383A>C (p.Asp4128Ala) c.12380A>C (p.Asp4127Ala) c.12377A>C (p.Asp4126Ala) c.12329A>C (p.Asp4110Ala) c.12317A>C (p.Asp4106Ala) c.12179A>C (p.Asp4060Ala) c.12026A>C (p.Asp4009Ala) | |
X | g.53537647C>A | CA413155731 | HUWE1 | c.11830G>T (p.Asp3944Tyr) c.12046G>T (p.Asp4016Tyr) c.2513G>T n.181G>T c.12019G>T (p.Asp4007Tyr) c.12295G>T (p.Asp4099Tyr) c.12292G>T (p.Asp4098Tyr) c.12250G>T (p.Asp4084Tyr) c.12247G>T (p.Asp4083Tyr) c.12244G>T (p.Asp4082Tyr) c.12196G>T (p.Asp4066Tyr) c.11893G>T (p.Asp3965Tyr) c.12427G>T (p.Asp4143Tyr) c.12424G>T (p.Asp4142Tyr) c.12406G>T (p.Asp4136Tyr) c.12382G>T (p.Asp4128Tyr) c.12379G>T (p.Asp4127Tyr) c.12376G>T (p.Asp4126Tyr) c.12328G>T (p.Asp4110Tyr) c.12316G>T (p.Asp4106Tyr) c.12178G>T (p.Asp4060Tyr) c.12025G>T (p.Asp4009Tyr) | |
X | g.53537647C>G | CA413155712 | HUWE1 | c.11830G>C (p.Asp3944His) c.12046G>C (p.Asp4016His) c.2513G>C n.181G>C c.12019G>C (p.Asp4007His) c.12295G>C (p.Asp4099His) c.12292G>C (p.Asp4098His) c.12250G>C (p.Asp4084His) c.12247G>C (p.Asp4083His) c.12244G>C (p.Asp4082His) c.12196G>C (p.Asp4066His) c.11893G>C (p.Asp3965His) c.12427G>C (p.Asp4143His) c.12424G>C (p.Asp4142His) c.12406G>C (p.Asp4136His) c.12382G>C (p.Asp4128His) c.12379G>C (p.Asp4127His) c.12376G>C (p.Asp4126His) c.12328G>C (p.Asp4110His) c.12316G>C (p.Asp4106His) c.12178G>C (p.Asp4060His) c.12025G>C (p.Asp4009His) | |
X | g.53537647C>T | CA413155727 | HUWE1 | c.11830G>A (p.Asp3944Asn) c.12046G>A (p.Asp4016Asn) c.2513G>A n.181G>A c.12019G>A (p.Asp4007Asn) c.12295G>A (p.Asp4099Asn) c.12292G>A (p.Asp4098Asn) c.12250G>A (p.Asp4084Asn) c.12247G>A (p.Asp4083Asn) c.12244G>A (p.Asp4082Asn) c.12196G>A (p.Asp4066Asn) c.11893G>A (p.Asp3965Asn) c.12427G>A (p.Asp4143Asn) c.12424G>A (p.Asp4142Asn) c.12406G>A (p.Asp4136Asn) c.12382G>A (p.Asp4128Asn) c.12379G>A (p.Asp4127Asn) c.12376G>A (p.Asp4126Asn) c.12328G>A (p.Asp4110Asn) c.12316G>A (p.Asp4106Asn) c.12178G>A (p.Asp4060Asn) c.12025G>A (p.Asp4009Asn) | |
X | g.53537648T>A | CA413155732 | HUWE1 | c.11829A>T (p.Glu3943Asp) c.12045A>T (p.Glu4015Asp) c.2512A>T n.180A>T c.12018A>T (p.Glu4006Asp) c.12294A>T (p.Glu4098Asp) c.12291A>T (p.Glu4097Asp) c.12249A>T (p.Glu4083Asp) c.12246A>T (p.Glu4082Asp) c.12243A>T (p.Glu4081Asp) c.12195A>T (p.Glu4065Asp) c.11892A>T (p.Glu3964Asp) c.12426A>T (p.Glu4142Asp) c.12423A>T (p.Glu4141Asp) c.12405A>T (p.Glu4135Asp) c.12381A>T (p.Glu4127Asp) c.12378A>T (p.Glu4126Asp) c.12375A>T (p.Glu4125Asp) c.12327A>T (p.Glu4109Asp) c.12315A>T (p.Glu4105Asp) c.12177A>T (p.Glu4059Asp) c.12024A>T (p.Glu4008Asp) | |
X | g.53537648T>C | CA516423910 | HUWE1 | c.11829A>G (p.Glu3943=) c.12045A>G (p.Glu4015=) c.2512A>G n.180A>G c.12018A>G (p.Glu4006=) c.12294A>G (p.Glu4098=) c.12291A>G (p.Glu4097=) c.12249A>G (p.Glu4083=) c.12246A>G (p.Glu4082=) c.12243A>G (p.Glu4081=) c.12195A>G (p.Glu4065=) c.11892A>G (p.Glu3964=) c.12426A>G (p.Glu4142=) c.12423A>G (p.Glu4141=) c.12405A>G (p.Glu4135=) c.12381A>G (p.Glu4127=) c.12378A>G (p.Glu4126=) c.12375A>G (p.Glu4125=) c.12327A>G (p.Glu4109=) c.12315A>G (p.Glu4105=) c.12177A>G (p.Glu4059=) c.12024A>G (p.Glu4008=) | |
X | g.53537648T>G | CA413155733 | HUWE1 | c.11829A>C (p.Glu3943Asp) c.12045A>C (p.Glu4015Asp) c.2512A>C n.180A>C c.12018A>C (p.Glu4006Asp) c.12294A>C (p.Glu4098Asp) c.12291A>C (p.Glu4097Asp) c.12249A>C (p.Glu4083Asp) c.12246A>C (p.Glu4082Asp) c.12243A>C (p.Glu4081Asp) c.12195A>C (p.Glu4065Asp) c.11892A>C (p.Glu3964Asp) c.12426A>C (p.Glu4142Asp) c.12423A>C (p.Glu4141Asp) c.12405A>C (p.Glu4135Asp) c.12381A>C (p.Glu4127Asp) c.12378A>C (p.Glu4126Asp) c.12375A>C (p.Glu4125Asp) c.12327A>C (p.Glu4109Asp) c.12315A>C (p.Glu4105Asp) c.12177A>C (p.Glu4059Asp) c.12024A>C (p.Glu4008Asp) | |
X | g.53537649T>A | CA413155743 | HUWE1 | c.11828A>T (p.Glu3943Val) c.12044A>T (p.Glu4015Val) c.2511A>T n.179A>T c.12017A>T (p.Glu4006Val) c.12293A>T (p.Glu4098Val) c.12290A>T (p.Glu4097Val) c.12248A>T (p.Glu4083Val) c.12245A>T (p.Glu4082Val) c.12242A>T (p.Glu4081Val) c.12194A>T (p.Glu4065Val) c.11891A>T (p.Glu3964Val) c.12425A>T (p.Glu4142Val) c.12422A>T (p.Glu4141Val) c.12404A>T (p.Glu4135Val) c.12380A>T (p.Glu4127Val) c.12377A>T (p.Glu4126Val) c.12374A>T (p.Glu4125Val) c.12326A>T (p.Glu4109Val) c.12314A>T (p.Glu4105Val) c.12176A>T (p.Glu4059Val) c.12023A>T (p.Glu4008Val) | |
X | g.53537649T>C | CA413155746 | HUWE1 | c.11828A>G (p.Glu3943Gly) c.12044A>G (p.Glu4015Gly) c.2511A>G n.179A>G c.12017A>G (p.Glu4006Gly) c.12293A>G (p.Glu4098Gly) c.12290A>G (p.Glu4097Gly) c.12248A>G (p.Glu4083Gly) c.12245A>G (p.Glu4082Gly) c.12242A>G (p.Glu4081Gly) c.12194A>G (p.Glu4065Gly) c.11891A>G (p.Glu3964Gly) c.12425A>G (p.Glu4142Gly) c.12422A>G (p.Glu4141Gly) c.12404A>G (p.Glu4135Gly) c.12380A>G (p.Glu4127Gly) c.12377A>G (p.Glu4126Gly) c.12374A>G (p.Glu4125Gly) c.12326A>G (p.Glu4109Gly) c.12314A>G (p.Glu4105Gly) c.12176A>G (p.Glu4059Gly) c.12023A>G (p.Glu4008Gly) | |
X | g.53537649T>G | CA413155751 | HUWE1 | c.11828A>C (p.Glu3943Ala) c.12044A>C (p.Glu4015Ala) c.2511A>C n.179A>C c.12017A>C (p.Glu4006Ala) c.12293A>C (p.Glu4098Ala) c.12290A>C (p.Glu4097Ala) c.12248A>C (p.Glu4083Ala) c.12245A>C (p.Glu4082Ala) c.12242A>C (p.Glu4081Ala) c.12194A>C (p.Glu4065Ala) c.11891A>C (p.Glu3964Ala) c.12425A>C (p.Glu4142Ala) c.12422A>C (p.Glu4141Ala) c.12404A>C (p.Glu4135Ala) c.12380A>C (p.Glu4127Ala) c.12377A>C (p.Glu4126Ala) c.12374A>C (p.Glu4125Ala) c.12326A>C (p.Glu4109Ala) c.12314A>C (p.Glu4105Ala) c.12176A>C (p.Glu4059Ala) c.12023A>C (p.Glu4008Ala) | |
X | g.53537650C>A | CA413155754 | HUWE1 | c.11827G>T (p.Glu3943Ter) c.12043G>T (p.Glu4015Ter) c.2510G>T n.178G>T c.12016G>T (p.Glu4006Ter) c.12292G>T (p.Glu4098Ter) c.12289G>T (p.Glu4097Ter) c.12247G>T (p.Glu4083Ter) c.12244G>T (p.Glu4082Ter) c.12241G>T (p.Glu4081Ter) c.12193G>T (p.Glu4065Ter) c.11890G>T (p.Glu3964Ter) c.12424G>T (p.Glu4142Ter) c.12421G>T (p.Glu4141Ter) c.12403G>T (p.Glu4135Ter) c.12379G>T (p.Glu4127Ter) c.12376G>T (p.Glu4126Ter) c.12373G>T (p.Glu4125Ter) c.12325G>T (p.Glu4109Ter) c.12313G>T (p.Glu4105Ter) c.12175G>T (p.Glu4059Ter) c.12022G>T (p.Glu4008Ter) | |
X | g.53537650C>G | CA413155757 | HUWE1 | c.11827G>C (p.Glu3943Gln) c.12043G>C (p.Glu4015Gln) c.2510G>C n.178G>C c.12016G>C (p.Glu4006Gln) c.12292G>C (p.Glu4098Gln) c.12289G>C (p.Glu4097Gln) c.12247G>C (p.Glu4083Gln) c.12244G>C (p.Glu4082Gln) c.12241G>C (p.Glu4081Gln) c.12193G>C (p.Glu4065Gln) c.11890G>C (p.Glu3964Gln) c.12424G>C (p.Glu4142Gln) c.12421G>C (p.Glu4141Gln) c.12403G>C (p.Glu4135Gln) c.12379G>C (p.Glu4127Gln) c.12376G>C (p.Glu4126Gln) c.12373G>C (p.Glu4125Gln) c.12325G>C (p.Glu4109Gln) c.12313G>C (p.Glu4105Gln) c.12175G>C (p.Glu4059Gln) c.12022G>C (p.Glu4008Gln) | |
X | g.53537650C>T | CA413155761 | HUWE1 | c.11827G>A (p.Glu3943Lys) c.12043G>A (p.Glu4015Lys) c.2510G>A n.178G>A c.12016G>A (p.Glu4006Lys) c.12292G>A (p.Glu4098Lys) c.12289G>A (p.Glu4097Lys) c.12247G>A (p.Glu4083Lys) c.12244G>A (p.Glu4082Lys) c.12241G>A (p.Glu4081Lys) c.12193G>A (p.Glu4065Lys) c.11890G>A (p.Glu3964Lys) c.12424G>A (p.Glu4142Lys) c.12421G>A (p.Glu4141Lys) c.12403G>A (p.Glu4135Lys) c.12379G>A (p.Glu4127Lys) c.12376G>A (p.Glu4126Lys) c.12373G>A (p.Glu4125Lys) c.12325G>A (p.Glu4109Lys) c.12313G>A (p.Glu4105Lys) c.12175G>A (p.Glu4059Lys) c.12022G>A (p.Glu4008Lys) | |
X | g.53537651T>A | CA413155766 | HUWE1 | c.11826A>T (p.Lys3942Asn) c.12042A>T (p.Lys4014Asn) c.2509A>T n.177A>T c.12015A>T (p.Lys4005Asn) c.12291A>T (p.Lys4097Asn) c.12288A>T (p.Lys4096Asn) c.12246A>T (p.Lys4082Asn) c.12243A>T (p.Lys4081Asn) c.12240A>T (p.Lys4080Asn) c.12192A>T (p.Lys4064Asn) c.11889A>T (p.Lys3963Asn) c.12423A>T (p.Lys4141Asn) c.12420A>T (p.Lys4140Asn) c.12402A>T (p.Lys4134Asn) c.12378A>T (p.Lys4126Asn) c.12375A>T (p.Lys4125Asn) c.12372A>T (p.Lys4124Asn) c.12324A>T (p.Lys4108Asn) c.12312A>T (p.Lys4104Asn) c.12174A>T (p.Lys4058Asn) c.12021A>T (p.Lys4007Asn) | |
X | g.53537651T>C | CA516423923 | HUWE1 | c.11826A>G (p.Lys3942=) c.12042A>G (p.Lys4014=) c.2509A>G n.177A>G c.12015A>G (p.Lys4005=) c.12291A>G (p.Lys4097=) c.12288A>G (p.Lys4096=) c.12246A>G (p.Lys4082=) c.12243A>G (p.Lys4081=) c.12240A>G (p.Lys4080=) c.12192A>G (p.Lys4064=) c.11889A>G (p.Lys3963=) c.12423A>G (p.Lys4141=) c.12420A>G (p.Lys4140=) c.12402A>G (p.Lys4134=) c.12378A>G (p.Lys4126=) c.12375A>G (p.Lys4125=) c.12372A>G (p.Lys4124=) c.12324A>G (p.Lys4108=) c.12312A>G (p.Lys4104=) c.12174A>G (p.Lys4058=) c.12021A>G (p.Lys4007=) | |
X | g.53537651T>G | CA413155769 | HUWE1 | c.11826A>C (p.Lys3942Asn) c.12042A>C (p.Lys4014Asn) c.2509A>C n.177A>C c.12015A>C (p.Lys4005Asn) c.12291A>C (p.Lys4097Asn) c.12288A>C (p.Lys4096Asn) c.12246A>C (p.Lys4082Asn) c.12243A>C (p.Lys4081Asn) c.12240A>C (p.Lys4080Asn) c.12192A>C (p.Lys4064Asn) c.11889A>C (p.Lys3963Asn) c.12423A>C (p.Lys4141Asn) c.12420A>C (p.Lys4140Asn) c.12402A>C (p.Lys4134Asn) c.12378A>C (p.Lys4126Asn) c.12375A>C (p.Lys4125Asn) c.12372A>C (p.Lys4124Asn) c.12324A>C (p.Lys4108Asn) c.12312A>C (p.Lys4104Asn) c.12174A>C (p.Lys4058Asn) c.12021A>C (p.Lys4007Asn) | |
X | g.53537652T>A | CA413155778 | HUWE1 | c.11825A>T (p.Lys3942Ile) c.12041A>T (p.Lys4014Ile) c.2508A>T n.176A>T c.12014A>T (p.Lys4005Ile) c.12290A>T (p.Lys4097Ile) c.12287A>T (p.Lys4096Ile) c.12245A>T (p.Lys4082Ile) c.12242A>T (p.Lys4081Ile) c.12239A>T (p.Lys4080Ile) c.12191A>T (p.Lys4064Ile) c.11888A>T (p.Lys3963Ile) c.12422A>T (p.Lys4141Ile) c.12419A>T (p.Lys4140Ile) c.12401A>T (p.Lys4134Ile) c.12377A>T (p.Lys4126Ile) c.12374A>T (p.Lys4125Ile) c.12371A>T (p.Lys4124Ile) c.12323A>T (p.Lys4108Ile) c.12311A>T (p.Lys4104Ile) c.12173A>T (p.Lys4058Ile) c.12020A>T (p.Lys4007Ile) | |
X | g.53537652T>C | CA413155779 | HUWE1 | c.11825A>G (p.Lys3942Arg) c.12041A>G (p.Lys4014Arg) c.2508A>G n.176A>G c.12014A>G (p.Lys4005Arg) c.12290A>G (p.Lys4097Arg) c.12287A>G (p.Lys4096Arg) c.12245A>G (p.Lys4082Arg) c.12242A>G (p.Lys4081Arg) c.12239A>G (p.Lys4080Arg) c.12191A>G (p.Lys4064Arg) c.11888A>G (p.Lys3963Arg) c.12422A>G (p.Lys4141Arg) c.12419A>G (p.Lys4140Arg) c.12401A>G (p.Lys4134Arg) c.12377A>G (p.Lys4126Arg) c.12374A>G (p.Lys4125Arg) c.12371A>G (p.Lys4124Arg) c.12323A>G (p.Lys4108Arg) c.12311A>G (p.Lys4104Arg) c.12173A>G (p.Lys4058Arg) c.12020A>G (p.Lys4007Arg) | |
X | g.53537652T>G | CA413155780 | HUWE1 | c.11825A>C (p.Lys3942Thr) c.12041A>C (p.Lys4014Thr) c.2508A>C n.176A>C c.12014A>C (p.Lys4005Thr) c.12290A>C (p.Lys4097Thr) c.12287A>C (p.Lys4096Thr) c.12245A>C (p.Lys4082Thr) c.12242A>C (p.Lys4081Thr) c.12239A>C (p.Lys4080Thr) c.12191A>C (p.Lys4064Thr) c.11888A>C (p.Lys3963Thr) c.12422A>C (p.Lys4141Thr) c.12419A>C (p.Lys4140Thr) c.12401A>C (p.Lys4134Thr) c.12377A>C (p.Lys4126Thr) c.12374A>C (p.Lys4125Thr) c.12371A>C (p.Lys4124Thr) c.12323A>C (p.Lys4108Thr) c.12311A>C (p.Lys4104Thr) c.12173A>C (p.Lys4058Thr) c.12020A>C (p.Lys4007Thr) | |
X | g.53537653T>A | CA413155782 | HUWE1 | c.11824A>T (p.Lys3942Ter) c.12040A>T (p.Lys4014Ter) c.2507A>T n.175A>T c.12013A>T (p.Lys4005Ter) c.12289A>T (p.Lys4097Ter) c.12286A>T (p.Lys4096Ter) c.12244A>T (p.Lys4082Ter) c.12241A>T (p.Lys4081Ter) c.12238A>T (p.Lys4080Ter) c.12190A>T (p.Lys4064Ter) c.11887A>T (p.Lys3963Ter) c.12421A>T (p.Lys4141Ter) c.12418A>T (p.Lys4140Ter) c.12400A>T (p.Lys4134Ter) c.12376A>T (p.Lys4126Ter) c.12373A>T (p.Lys4125Ter) c.12370A>T (p.Lys4124Ter) c.12322A>T (p.Lys4108Ter) c.12310A>T (p.Lys4104Ter) c.12172A>T (p.Lys4058Ter) c.12019A>T (p.Lys4007Ter) | |
X | g.53537653T>C | CA413155789 | HUWE1 | c.11824A>G (p.Lys3942Glu) c.12040A>G (p.Lys4014Glu) c.2507A>G n.175A>G c.12013A>G (p.Lys4005Glu) c.12289A>G (p.Lys4097Glu) c.12286A>G (p.Lys4096Glu) c.12244A>G (p.Lys4082Glu) c.12241A>G (p.Lys4081Glu) c.12238A>G (p.Lys4080Glu) c.12190A>G (p.Lys4064Glu) c.11887A>G (p.Lys3963Glu) c.12421A>G (p.Lys4141Glu) c.12418A>G (p.Lys4140Glu) c.12400A>G (p.Lys4134Glu) c.12376A>G (p.Lys4126Glu) c.12373A>G (p.Lys4125Glu) c.12370A>G (p.Lys4124Glu) c.12322A>G (p.Lys4108Glu) c.12310A>G (p.Lys4104Glu) c.12172A>G (p.Lys4058Glu) c.12019A>G (p.Lys4007Glu) | |
X | g.53537653T>G | CA413155785 | HUWE1 | c.11824A>C (p.Lys3942Gln) c.12040A>C (p.Lys4014Gln) c.2507A>C n.175A>C c.12013A>C (p.Lys4005Gln) c.12289A>C (p.Lys4097Gln) c.12286A>C (p.Lys4096Gln) c.12244A>C (p.Lys4082Gln) c.12241A>C (p.Lys4081Gln) c.12238A>C (p.Lys4080Gln) c.12190A>C (p.Lys4064Gln) c.11887A>C (p.Lys3963Gln) c.12421A>C (p.Lys4141Gln) c.12418A>C (p.Lys4140Gln) c.12400A>C (p.Lys4134Gln) c.12376A>C (p.Lys4126Gln) c.12373A>C (p.Lys4125Gln) c.12370A>C (p.Lys4124Gln) c.12322A>C (p.Lys4108Gln) c.12310A>C (p.Lys4104Gln) c.12172A>C (p.Lys4058Gln) c.12019A>C (p.Lys4007Gln) | |
X | g.53537654C>A | CA516423934 | HUWE1 | c.11823G>T (p.Arg3941=) c.12039G>T (p.Arg4013=) c.2506G>T n.174G>T c.12012G>T (p.Arg4004=) c.12288G>T (p.Arg4096=) c.12285G>T (p.Arg4095=) c.12243G>T (p.Arg4081=) c.12240G>T (p.Arg4080=) c.12237G>T (p.Arg4079=) c.12189G>T (p.Arg4063=) c.11886G>T (p.Arg3962=) c.12420G>T (p.Arg4140=) c.12417G>T (p.Arg4139=) c.12399G>T (p.Arg4133=) c.12375G>T (p.Arg4125=) c.12372G>T (p.Arg4124=) c.12369G>T (p.Arg4123=) c.12321G>T (p.Arg4107=) c.12309G>T (p.Arg4103=) c.12171G>T (p.Arg4057=) c.12018G>T (p.Arg4006=) | |
X | g.53537654C>G | CA516423937 | HUWE1 | c.11823G>C (p.Arg3941=) c.12039G>C (p.Arg4013=) c.2506G>C n.174G>C c.12012G>C (p.Arg4004=) c.12288G>C (p.Arg4096=) c.12285G>C (p.Arg4095=) c.12243G>C (p.Arg4081=) c.12240G>C (p.Arg4080=) c.12237G>C (p.Arg4079=) c.12189G>C (p.Arg4063=) c.11886G>C (p.Arg3962=) c.12420G>C (p.Arg4140=) c.12417G>C (p.Arg4139=) c.12399G>C (p.Arg4133=) c.12375G>C (p.Arg4125=) c.12372G>C (p.Arg4124=) c.12369G>C (p.Arg4123=) c.12321G>C (p.Arg4107=) c.12309G>C (p.Arg4103=) c.12171G>C (p.Arg4057=) c.12018G>C (p.Arg4006=) | |
X | g.53537654C>T | CA516423938 | HUWE1 | c.11823G>A (p.Arg3941=) c.12039G>A (p.Arg4013=) c.2506G>A n.174G>A c.12012G>A (p.Arg4004=) c.12288G>A (p.Arg4096=) c.12285G>A (p.Arg4095=) c.12243G>A (p.Arg4081=) c.12240G>A (p.Arg4080=) c.12237G>A (p.Arg4079=) c.12189G>A (p.Arg4063=) c.11886G>A (p.Arg3962=) c.12420G>A (p.Arg4140=) c.12417G>A (p.Arg4139=) c.12399G>A (p.Arg4133=) c.12375G>A (p.Arg4125=) c.12372G>A (p.Arg4124=) c.12369G>A (p.Arg4123=) c.12321G>A (p.Arg4107=) c.12309G>A (p.Arg4103=) c.12171G>A (p.Arg4057=) c.12018G>A (p.Arg4006=) | |
X | g.53537655C>A | CA413155792 | HUWE1 | c.11822G>T (p.Arg3941Leu) c.12038G>T (p.Arg4013Leu) c.2505G>T n.173G>T c.12011G>T (p.Arg4004Leu) c.12287G>T (p.Arg4096Leu) c.12284G>T (p.Arg4095Leu) c.12242G>T (p.Arg4081Leu) c.12239G>T (p.Arg4080Leu) c.12236G>T (p.Arg4079Leu) c.12188G>T (p.Arg4063Leu) c.11885G>T (p.Arg3962Leu) c.12419G>T (p.Arg4140Leu) c.12416G>T (p.Arg4139Leu) c.12398G>T (p.Arg4133Leu) c.12374G>T (p.Arg4125Leu) c.12371G>T (p.Arg4124Leu) c.12368G>T (p.Arg4123Leu) c.12320G>T (p.Arg4107Leu) c.12308G>T (p.Arg4103Leu) c.12170G>T (p.Arg4057Leu) c.12017G>T (p.Arg4006Leu) | |
X | g.53537655C= | CA2429870465 | HUWE1 | c.11822G= (p.Arg3941=) c.12038G= (p.Arg4013=) c.2505G= n.173G= c.12011G= (p.Arg4004=) c.12287G= (p.Arg4096=) c.12284G= (p.Arg4095=) c.12242G= (p.Arg4081=) c.12239G= (p.Arg4080=) c.12236G= (p.Arg4079=) c.12188G= (p.Arg4063=) c.11885G= (p.Arg3962=) c.12419G= (p.Arg4140=) c.12416G= (p.Arg4139=) c.12398G= (p.Arg4133=) c.12374G= (p.Arg4125=) c.12371G= (p.Arg4124=) c.12368G= (p.Arg4123=) c.12320G= (p.Arg4107=) c.12308G= (p.Arg4103=) c.12170G= (p.Arg4057=) c.12017G= (p.Arg4006=) | |
X | g.53537655C>G | CA413155799 | HUWE1 | c.11822G>C (p.Arg3941Pro) c.12038G>C (p.Arg4013Pro) c.2505G>C n.173G>C c.12011G>C (p.Arg4004Pro) c.12287G>C (p.Arg4096Pro) c.12284G>C (p.Arg4095Pro) c.12242G>C (p.Arg4081Pro) c.12239G>C (p.Arg4080Pro) c.12236G>C (p.Arg4079Pro) c.12188G>C (p.Arg4063Pro) c.11885G>C (p.Arg3962Pro) c.12419G>C (p.Arg4140Pro) c.12416G>C (p.Arg4139Pro) c.12398G>C (p.Arg4133Pro) c.12374G>C (p.Arg4125Pro) c.12371G>C (p.Arg4124Pro) c.12368G>C (p.Arg4123Pro) c.12320G>C (p.Arg4107Pro) c.12308G>C (p.Arg4103Pro) c.12170G>C (p.Arg4057Pro) c.12017G>C (p.Arg4006Pro) | |
X | g.53537655C>T | CA10421283 | HUWE1 | c.11822G>A (p.Arg3941Gln) c.12038G>A (p.Arg4013Gln) c.2505G>A n.173G>A c.12011G>A (p.Arg4004Gln) c.12287G>A (p.Arg4096Gln) c.12284G>A (p.Arg4095Gln) c.12242G>A (p.Arg4081Gln) c.12239G>A (p.Arg4080Gln) c.12236G>A (p.Arg4079Gln) c.12188G>A (p.Arg4063Gln) c.11885G>A (p.Arg3962Gln) c.12419G>A (p.Arg4140Gln) c.12416G>A (p.Arg4139Gln) c.12398G>A (p.Arg4133Gln) c.12374G>A (p.Arg4125Gln) c.12371G>A (p.Arg4124Gln) c.12368G>A (p.Arg4123Gln) c.12320G>A (p.Arg4107Gln) c.12308G>A (p.Arg4103Gln) c.12170G>A (p.Arg4057Gln) c.12017G>A (p.Arg4006Gln) | ClinVar dbSNP ExAC gnomAD v4 COSMIC COSMIC |
X | g.53537656G>A | CA121140 | HUWE1 | c.11821C>T (p.Arg3941Trp) c.12037C>T (p.Arg4013Trp) c.2504C>T n.172C>T c.12010C>T (p.Arg4004Trp) c.12286C>T (p.Arg4096Trp) c.12283C>T (p.Arg4095Trp) c.12241C>T (p.Arg4081Trp) c.12238C>T (p.Arg4080Trp) c.12235C>T (p.Arg4079Trp) c.12187C>T (p.Arg4063Trp) c.11884C>T (p.Arg3962Trp) c.12418C>T (p.Arg4140Trp) c.12415C>T (p.Arg4139Trp) c.12397C>T (p.Arg4133Trp) c.12373C>T (p.Arg4125Trp) c.12370C>T (p.Arg4124Trp) c.12367C>T (p.Arg4123Trp) c.12319C>T (p.Arg4107Trp) c.12307C>T (p.Arg4103Trp) c.12169C>T (p.Arg4057Trp) c.12016C>T (p.Arg4006Trp) | ClinVar dbSNP COSMIC COSMIC |
X | g.53537656G>C | CA413155809 | HUWE1 | c.11821C>G (p.Arg3941Gly) c.12037C>G (p.Arg4013Gly) c.2504C>G n.172C>G c.12010C>G (p.Arg4004Gly) c.12286C>G (p.Arg4096Gly) c.12283C>G (p.Arg4095Gly) c.12241C>G (p.Arg4081Gly) c.12238C>G (p.Arg4080Gly) c.12235C>G (p.Arg4079Gly) c.12187C>G (p.Arg4063Gly) c.11884C>G (p.Arg3962Gly) c.12418C>G (p.Arg4140Gly) c.12415C>G (p.Arg4139Gly) c.12397C>G (p.Arg4133Gly) c.12373C>G (p.Arg4125Gly) c.12370C>G (p.Arg4124Gly) c.12367C>G (p.Arg4123Gly) c.12319C>G (p.Arg4107Gly) c.12307C>G (p.Arg4103Gly) c.12169C>G (p.Arg4057Gly) c.12016C>G (p.Arg4006Gly) | |
X | g.53537656G= | CA2429870466 | HUWE1 | c.11821C= (p.Arg3941=) c.12037C= (p.Arg4013=) c.2504C= n.172C= c.12010C= (p.Arg4004=) c.12286C= (p.Arg4096=) c.12283C= (p.Arg4095=) c.12241C= (p.Arg4081=) c.12238C= (p.Arg4080=) c.12235C= (p.Arg4079=) c.12187C= (p.Arg4063=) c.11884C= (p.Arg3962=) c.12418C= (p.Arg4140=) c.12415C= (p.Arg4139=) c.12397C= (p.Arg4133=) c.12373C= (p.Arg4125=) c.12370C= (p.Arg4124=) c.12367C= (p.Arg4123=) c.12319C= (p.Arg4107=) c.12307C= (p.Arg4103=) c.12169C= (p.Arg4057=) c.12016C= (p.Arg4006=) | |
X | g.53537656G>T | CA516423943 | HUWE1 | c.11821C>A (p.Arg3941=) c.12037C>A (p.Arg4013=) c.2504C>A n.172C>A c.12010C>A (p.Arg4004=) c.12286C>A (p.Arg4096=) c.12283C>A (p.Arg4095=) c.12241C>A (p.Arg4081=) c.12238C>A (p.Arg4080=) c.12235C>A (p.Arg4079=) c.12187C>A (p.Arg4063=) c.11884C>A (p.Arg3962=) c.12418C>A (p.Arg4140=) c.12415C>A (p.Arg4139=) c.12397C>A (p.Arg4133=) c.12373C>A (p.Arg4125=) c.12370C>A (p.Arg4124=) c.12367C>A (p.Arg4123=) c.12319C>A (p.Arg4107=) c.12307C>A (p.Arg4103=) c.12169C>A (p.Arg4057=) c.12016C>A (p.Arg4006=) | |
X | g.53537657G>A | CA516423947 | HUWE1 | c.11820C>T (p.Leu3940=) c.12036C>T (p.Leu4012=) c.2503C>T n.171C>T c.12009C>T (p.Leu4003=) c.12285C>T (p.Leu4095=) c.12282C>T (p.Leu4094=) c.12240C>T (p.Leu4080=) c.12237C>T (p.Leu4079=) c.12234C>T (p.Leu4078=) c.12186C>T (p.Leu4062=) c.11883C>T (p.Leu3961=) c.12417C>T (p.Leu4139=) c.12414C>T (p.Leu4138=) c.12396C>T (p.Leu4132=) c.12372C>T (p.Leu4124=) c.12369C>T (p.Leu4123=) c.12366C>T (p.Leu4122=) c.12318C>T (p.Leu4106=) c.12306C>T (p.Leu4102=) c.12168C>T (p.Leu4056=) c.12015C>T (p.Leu4005=) | |
X | g.53537657G>C | CA516423948 | HUWE1 | c.11820C>G (p.Leu3940=) c.12036C>G (p.Leu4012=) c.2503C>G n.171C>G c.12009C>G (p.Leu4003=) c.12285C>G (p.Leu4095=) c.12282C>G (p.Leu4094=) c.12240C>G (p.Leu4080=) c.12237C>G (p.Leu4079=) c.12234C>G (p.Leu4078=) c.12186C>G (p.Leu4062=) c.11883C>G (p.Leu3961=) c.12417C>G (p.Leu4139=) c.12414C>G (p.Leu4138=) c.12396C>G (p.Leu4132=) c.12372C>G (p.Leu4124=) c.12369C>G (p.Leu4123=) c.12366C>G (p.Leu4122=) c.12318C>G (p.Leu4106=) c.12306C>G (p.Leu4102=) c.12168C>G (p.Leu4056=) c.12015C>G (p.Leu4005=) | |
X | g.53537657G>T | CA516423952 | HUWE1 | c.11820C>A (p.Leu3940=) c.12036C>A (p.Leu4012=) c.2503C>A n.171C>A c.12009C>A (p.Leu4003=) c.12285C>A (p.Leu4095=) c.12282C>A (p.Leu4094=) c.12240C>A (p.Leu4080=) c.12237C>A (p.Leu4079=) c.12234C>A (p.Leu4078=) c.12186C>A (p.Leu4062=) c.11883C>A (p.Leu3961=) c.12417C>A (p.Leu4139=) c.12414C>A (p.Leu4138=) c.12396C>A (p.Leu4132=) c.12372C>A (p.Leu4124=) c.12369C>A (p.Leu4123=) c.12366C>A (p.Leu4122=) c.12318C>A (p.Leu4106=) c.12306C>A (p.Leu4102=) c.12168C>A (p.Leu4056=) c.12015C>A (p.Leu4005=) | |
X | g.53537658A>C | CA413155814 | HUWE1 | c.11819T>G (p.Leu3940Arg) c.12035T>G (p.Leu4012Arg) c.2502T>G n.170T>G c.12008T>G (p.Leu4003Arg) c.12284T>G (p.Leu4095Arg) c.12281T>G (p.Leu4094Arg) c.12239T>G (p.Leu4080Arg) c.12236T>G (p.Leu4079Arg) c.12233T>G (p.Leu4078Arg) c.12185T>G (p.Leu4062Arg) c.11882T>G (p.Leu3961Arg) c.12416T>G (p.Leu4139Arg) c.12413T>G (p.Leu4138Arg) c.12395T>G (p.Leu4132Arg) c.12371T>G (p.Leu4124Arg) c.12368T>G (p.Leu4123Arg) c.12365T>G (p.Leu4122Arg) c.12317T>G (p.Leu4106Arg) c.12305T>G (p.Leu4102Arg) c.12167T>G (p.Leu4056Arg) c.12014T>G (p.Leu4005Arg) | |
X | g.53537658A>G | CA413155817 | HUWE1 | c.11819T>C (p.Leu3940Pro) c.12035T>C (p.Leu4012Pro) c.2502T>C n.170T>C c.12008T>C (p.Leu4003Pro) c.12284T>C (p.Leu4095Pro) c.12281T>C (p.Leu4094Pro) c.12239T>C (p.Leu4080Pro) c.12236T>C (p.Leu4079Pro) c.12233T>C (p.Leu4078Pro) c.12185T>C (p.Leu4062Pro) c.11882T>C (p.Leu3961Pro) c.12416T>C (p.Leu4139Pro) c.12413T>C (p.Leu4138Pro) c.12395T>C (p.Leu4132Pro) c.12371T>C (p.Leu4124Pro) c.12368T>C (p.Leu4123Pro) c.12365T>C (p.Leu4122Pro) c.12317T>C (p.Leu4106Pro) c.12305T>C (p.Leu4102Pro) c.12167T>C (p.Leu4056Pro) c.12014T>C (p.Leu4005Pro) | |
X | g.53537658A>T | CA413155820 | HUWE1 | c.11819T>A (p.Leu3940His) c.12035T>A (p.Leu4012His) c.2502T>A n.170T>A c.12008T>A (p.Leu4003His) c.12284T>A (p.Leu4095His) c.12281T>A (p.Leu4094His) c.12239T>A (p.Leu4080His) c.12236T>A (p.Leu4079His) c.12233T>A (p.Leu4078His) c.12185T>A (p.Leu4062His) c.11882T>A (p.Leu3961His) c.12416T>A (p.Leu4139His) c.12413T>A (p.Leu4138His) c.12395T>A (p.Leu4132His) c.12371T>A (p.Leu4124His) c.12368T>A (p.Leu4123His) c.12365T>A (p.Leu4122His) c.12317T>A (p.Leu4106His) c.12305T>A (p.Leu4102His) c.12167T>A (p.Leu4056His) c.12014T>A (p.Leu4005His) | |
X | g.53537659G>A | CA413155821 | HUWE1 | c.11818C>T (p.Leu3940Phe) c.12034C>T (p.Leu4012Phe) c.2501C>T n.169C>T c.12007C>T (p.Leu4003Phe) c.12283C>T (p.Leu4095Phe) c.12280C>T (p.Leu4094Phe) c.12238C>T (p.Leu4080Phe) c.12235C>T (p.Leu4079Phe) c.12232C>T (p.Leu4078Phe) c.12184C>T (p.Leu4062Phe) c.11881C>T (p.Leu3961Phe) c.12415C>T (p.Leu4139Phe) c.12412C>T (p.Leu4138Phe) c.12394C>T (p.Leu4132Phe) c.12370C>T (p.Leu4124Phe) c.12367C>T (p.Leu4123Phe) c.12364C>T (p.Leu4122Phe) c.12316C>T (p.Leu4106Phe) c.12304C>T (p.Leu4102Phe) c.12166C>T (p.Leu4056Phe) c.12013C>T (p.Leu4005Phe) | |
X | g.53537659G>C | CA413155822 | HUWE1 | c.11818C>G (p.Leu3940Val) c.12034C>G (p.Leu4012Val) c.2501C>G n.169C>G c.12007C>G (p.Leu4003Val) c.12283C>G (p.Leu4095Val) c.12280C>G (p.Leu4094Val) c.12238C>G (p.Leu4080Val) c.12235C>G (p.Leu4079Val) c.12232C>G (p.Leu4078Val) c.12184C>G (p.Leu4062Val) c.11881C>G (p.Leu3961Val) c.12415C>G (p.Leu4139Val) c.12412C>G (p.Leu4138Val) c.12394C>G (p.Leu4132Val) c.12370C>G (p.Leu4124Val) c.12367C>G (p.Leu4123Val) c.12364C>G (p.Leu4122Val) c.12316C>G (p.Leu4106Val) c.12304C>G (p.Leu4102Val) c.12166C>G (p.Leu4056Val) c.12013C>G (p.Leu4005Val) | |
X | g.53537659G>T | CA413155825 | HUWE1 | c.11818C>A (p.Leu3940Ile) c.12034C>A (p.Leu4012Ile) c.2501C>A n.169C>A c.12007C>A (p.Leu4003Ile) c.12283C>A (p.Leu4095Ile) c.12280C>A (p.Leu4094Ile) c.12238C>A (p.Leu4080Ile) c.12235C>A (p.Leu4079Ile) c.12232C>A (p.Leu4078Ile) c.12184C>A (p.Leu4062Ile) c.11881C>A (p.Leu3961Ile) c.12415C>A (p.Leu4139Ile) c.12412C>A (p.Leu4138Ile) c.12394C>A (p.Leu4132Ile) c.12370C>A (p.Leu4124Ile) c.12367C>A (p.Leu4123Ile) c.12364C>A (p.Leu4122Ile) c.12316C>A (p.Leu4106Ile) c.12304C>A (p.Leu4102Ile) c.12166C>A (p.Leu4056Ile) c.12013C>A (p.Leu4005Ile) | |
X | g.53537660C>A | CA516423964 | HUWE1 | c.11817G>T (p.Gly3939=) c.12033G>T (p.Gly4011=) c.2500G>T n.168G>T c.12006G>T (p.Gly4002=) c.12282G>T (p.Gly4094=) c.12279G>T (p.Gly4093=) c.12237G>T (p.Gly4079=) c.12234G>T (p.Gly4078=) c.12231G>T (p.Gly4077=) c.12183G>T (p.Gly4061=) c.11880G>T (p.Gly3960=) c.12414G>T (p.Gly4138=) c.12411G>T (p.Gly4137=) c.12393G>T (p.Gly4131=) c.12369G>T (p.Gly4123=) c.12366G>T (p.Gly4122=) c.12363G>T (p.Gly4121=) c.12315G>T (p.Gly4105=) c.12303G>T (p.Gly4101=) c.12165G>T (p.Gly4055=) c.12012G>T (p.Gly4004=) | |
X | g.53537660C= | CA2429870467 | HUWE1 | c.11817G= (p.Gly3939=) c.12033G= (p.Gly4011=) c.2500G= n.168G= c.12006G= (p.Gly4002=) c.12282G= (p.Gly4094=) c.12279G= (p.Gly4093=) c.12237G= (p.Gly4079=) c.12234G= (p.Gly4078=) c.12231G= (p.Gly4077=) c.12183G= (p.Gly4061=) c.11880G= (p.Gly3960=) c.12414G= (p.Gly4138=) c.12411G= (p.Gly4137=) c.12393G= (p.Gly4131=) c.12369G= (p.Gly4123=) c.12366G= (p.Gly4122=) c.12363G= (p.Gly4121=) c.12315G= (p.Gly4105=) c.12303G= (p.Gly4101=) c.12165G= (p.Gly4055=) c.12012G= (p.Gly4004=) | |
X | g.53537660C>G | CA516423963 | HUWE1 | c.11817G>C (p.Gly3939=) c.12033G>C (p.Gly4011=) c.2500G>C n.168G>C c.12006G>C (p.Gly4002=) c.12282G>C (p.Gly4094=) c.12279G>C (p.Gly4093=) c.12237G>C (p.Gly4079=) c.12234G>C (p.Gly4078=) c.12231G>C (p.Gly4077=) c.12183G>C (p.Gly4061=) c.11880G>C (p.Gly3960=) c.12414G>C (p.Gly4138=) c.12411G>C (p.Gly4137=) c.12393G>C (p.Gly4131=) c.12369G>C (p.Gly4123=) c.12366G>C (p.Gly4122=) c.12363G>C (p.Gly4121=) c.12315G>C (p.Gly4105=) c.12303G>C (p.Gly4101=) c.12165G>C (p.Gly4055=) c.12012G>C (p.Gly4004=) | |
X | g.53537660C>T | CA329184716 | HUWE1 | c.11817G>A (p.Gly3939=) c.12033G>A (p.Gly4011=) c.2500G>A n.168G>A c.12006G>A (p.Gly4002=) c.12282G>A (p.Gly4094=) c.12279G>A (p.Gly4093=) c.12237G>A (p.Gly4079=) c.12234G>A (p.Gly4078=) c.12231G>A (p.Gly4077=) c.12183G>A (p.Gly4061=) c.11880G>A (p.Gly3960=) c.12414G>A (p.Gly4138=) c.12411G>A (p.Gly4137=) c.12393G>A (p.Gly4131=) c.12369G>A (p.Gly4123=) c.12366G>A (p.Gly4122=) c.12363G>A (p.Gly4121=) c.12315G>A (p.Gly4105=) c.12303G>A (p.Gly4101=) c.12165G>A (p.Gly4055=) c.12012G>A (p.Gly4004=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53537661C>A | CA413155830 | HUWE1 | c.11816G>T (p.Gly3939Val) c.12032G>T (p.Gly4011Val) c.2499G>T n.167G>T c.12005G>T (p.Gly4002Val) c.12281G>T (p.Gly4094Val) c.12278G>T (p.Gly4093Val) c.12236G>T (p.Gly4079Val) c.12233G>T (p.Gly4078Val) c.12230G>T (p.Gly4077Val) c.12182G>T (p.Gly4061Val) c.11879G>T (p.Gly3960Val) c.12413G>T (p.Gly4138Val) c.12410G>T (p.Gly4137Val) c.12392G>T (p.Gly4131Val) c.12368G>T (p.Gly4123Val) c.12365G>T (p.Gly4122Val) c.12362G>T (p.Gly4121Val) c.12314G>T (p.Gly4105Val) c.12302G>T (p.Gly4101Val) c.12164G>T (p.Gly4055Val) c.12011G>T (p.Gly4004Val) | |
X | g.53537661C= | CA2429870468 | HUWE1 | c.11816G= (p.Gly3939=) c.12032G= (p.Gly4011=) c.2499G= n.167G= c.12005G= (p.Gly4002=) c.12281G= (p.Gly4094=) c.12278G= (p.Gly4093=) c.12236G= (p.Gly4079=) c.12233G= (p.Gly4078=) c.12230G= (p.Gly4077=) c.12182G= (p.Gly4061=) c.11879G= (p.Gly3960=) c.12413G= (p.Gly4138=) c.12410G= (p.Gly4137=) c.12392G= (p.Gly4131=) c.12368G= (p.Gly4123=) c.12365G= (p.Gly4122=) c.12362G= (p.Gly4121=) c.12314G= (p.Gly4105=) c.12302G= (p.Gly4101=) c.12164G= (p.Gly4055=) c.12011G= (p.Gly4004=) | |
X | g.53537661C>G | CA413155836 | HUWE1 | c.11816G>C (p.Gly3939Ala) c.12032G>C (p.Gly4011Ala) c.2499G>C n.167G>C c.12005G>C (p.Gly4002Ala) c.12281G>C (p.Gly4094Ala) c.12278G>C (p.Gly4093Ala) c.12236G>C (p.Gly4079Ala) c.12233G>C (p.Gly4078Ala) c.12230G>C (p.Gly4077Ala) c.12182G>C (p.Gly4061Ala) c.11879G>C (p.Gly3960Ala) c.12413G>C (p.Gly4138Ala) c.12410G>C (p.Gly4137Ala) c.12392G>C (p.Gly4131Ala) c.12368G>C (p.Gly4123Ala) c.12365G>C (p.Gly4122Ala) c.12362G>C (p.Gly4121Ala) c.12314G>C (p.Gly4105Ala) c.12302G>C (p.Gly4101Ala) c.12164G>C (p.Gly4055Ala) c.12011G>C (p.Gly4004Ala) | |
X | g.53537661C>T | CA413155828 | HUWE1 | c.11816G>A (p.Gly3939Glu) c.12032G>A (p.Gly4011Glu) c.2499G>A n.167G>A c.12005G>A (p.Gly4002Glu) c.12281G>A (p.Gly4094Glu) c.12278G>A (p.Gly4093Glu) c.12236G>A (p.Gly4079Glu) c.12233G>A (p.Gly4078Glu) c.12230G>A (p.Gly4077Glu) c.12182G>A (p.Gly4061Glu) c.11879G>A (p.Gly3960Glu) c.12413G>A (p.Gly4138Glu) c.12410G>A (p.Gly4137Glu) c.12392G>A (p.Gly4131Glu) c.12368G>A (p.Gly4123Glu) c.12365G>A (p.Gly4122Glu) c.12362G>A (p.Gly4121Glu) c.12314G>A (p.Gly4105Glu) c.12302G>A (p.Gly4101Glu) c.12164G>A (p.Gly4055Glu) c.12011G>A (p.Gly4004Glu) | dbSNP gnomAD v2 COSMIC COSMIC |
X | g.53537662C>A | CA413155840 | HUWE1 | c.11815G>T (p.Gly3939Trp) c.12031G>T (p.Gly4011Trp) c.2498G>T n.166G>T c.12004G>T (p.Gly4002Trp) c.12280G>T (p.Gly4094Trp) c.12277G>T (p.Gly4093Trp) c.12235G>T (p.Gly4079Trp) c.12232G>T (p.Gly4078Trp) c.12229G>T (p.Gly4077Trp) c.12181G>T (p.Gly4061Trp) c.11878G>T (p.Gly3960Trp) c.12412G>T (p.Gly4138Trp) c.12409G>T (p.Gly4137Trp) c.12391G>T (p.Gly4131Trp) c.12367G>T (p.Gly4123Trp) c.12364G>T (p.Gly4122Trp) c.12361G>T (p.Gly4121Trp) c.12313G>T (p.Gly4105Trp) c.12301G>T (p.Gly4101Trp) c.12163G>T (p.Gly4055Trp) c.12010G>T (p.Gly4004Trp) | COSMIC COSMIC |
X | g.53537662C>G | CA413155843 | HUWE1 | c.11815G>C (p.Gly3939Arg) c.12031G>C (p.Gly4011Arg) c.2498G>C n.166G>C c.12004G>C (p.Gly4002Arg) c.12280G>C (p.Gly4094Arg) c.12277G>C (p.Gly4093Arg) c.12235G>C (p.Gly4079Arg) c.12232G>C (p.Gly4078Arg) c.12229G>C (p.Gly4077Arg) c.12181G>C (p.Gly4061Arg) c.11878G>C (p.Gly3960Arg) c.12412G>C (p.Gly4138Arg) c.12409G>C (p.Gly4137Arg) c.12391G>C (p.Gly4131Arg) c.12367G>C (p.Gly4123Arg) c.12364G>C (p.Gly4122Arg) c.12361G>C (p.Gly4121Arg) c.12313G>C (p.Gly4105Arg) c.12301G>C (p.Gly4101Arg) c.12163G>C (p.Gly4055Arg) c.12010G>C (p.Gly4004Arg) | |
X | g.53537662C>T | CA413155846 | HUWE1 | c.11815G>A (p.Gly3939Arg) c.12031G>A (p.Gly4011Arg) c.2498G>A n.166G>A c.12004G>A (p.Gly4002Arg) c.12280G>A (p.Gly4094Arg) c.12277G>A (p.Gly4093Arg) c.12235G>A (p.Gly4079Arg) c.12232G>A (p.Gly4078Arg) c.12229G>A (p.Gly4077Arg) c.12181G>A (p.Gly4061Arg) c.11878G>A (p.Gly3960Arg) c.12412G>A (p.Gly4138Arg) c.12409G>A (p.Gly4137Arg) c.12391G>A (p.Gly4131Arg) c.12367G>A (p.Gly4123Arg) c.12364G>A (p.Gly4122Arg) c.12361G>A (p.Gly4121Arg) c.12313G>A (p.Gly4105Arg) c.12301G>A (p.Gly4101Arg) c.12163G>A (p.Gly4055Arg) c.12010G>A (p.Gly4004Arg) | |
X | g.53537663C>A | CA413155849 | HUWE1 | c.11814G>T (p.Glu3938Asp) c.12030G>T (p.Glu4010Asp) c.2497G>T n.165G>T c.12003G>T (p.Glu4001Asp) c.12279G>T (p.Glu4093Asp) c.12276G>T (p.Glu4092Asp) c.12234G>T (p.Glu4078Asp) c.12231G>T (p.Glu4077Asp) c.12228G>T (p.Glu4076Asp) c.12180G>T (p.Glu4060Asp) c.11877G>T (p.Glu3959Asp) c.12411G>T (p.Glu4137Asp) c.12408G>T (p.Glu4136Asp) c.12390G>T (p.Glu4130Asp) c.12366G>T (p.Glu4122Asp) c.12363G>T (p.Glu4121Asp) c.12360G>T (p.Glu4120Asp) c.12312G>T (p.Glu4104Asp) c.12300G>T (p.Glu4100Asp) c.12162G>T (p.Glu4054Asp) c.12009G>T (p.Glu4003Asp) | |
X | g.53537663C>G | CA413155852 | HUWE1 | c.11814G>C (p.Glu3938Asp) c.12030G>C (p.Glu4010Asp) c.2497G>C n.165G>C c.12003G>C (p.Glu4001Asp) c.12279G>C (p.Glu4093Asp) c.12276G>C (p.Glu4092Asp) c.12234G>C (p.Glu4078Asp) c.12231G>C (p.Glu4077Asp) c.12228G>C (p.Glu4076Asp) c.12180G>C (p.Glu4060Asp) c.11877G>C (p.Glu3959Asp) c.12411G>C (p.Glu4137Asp) c.12408G>C (p.Glu4136Asp) c.12390G>C (p.Glu4130Asp) c.12366G>C (p.Glu4122Asp) c.12363G>C (p.Glu4121Asp) c.12360G>C (p.Glu4120Asp) c.12312G>C (p.Glu4104Asp) c.12300G>C (p.Glu4100Asp) c.12162G>C (p.Glu4054Asp) c.12009G>C (p.Glu4003Asp) | |
X | g.53537663C>T | CA516423980 | HUWE1 | c.11814G>A (p.Glu3938=) c.12030G>A (p.Glu4010=) c.2497G>A n.165G>A c.12003G>A (p.Glu4001=) c.12279G>A (p.Glu4093=) c.12276G>A (p.Glu4092=) c.12234G>A (p.Glu4078=) c.12231G>A (p.Glu4077=) c.12228G>A (p.Glu4076=) c.12180G>A (p.Glu4060=) c.11877G>A (p.Glu3959=) c.12411G>A (p.Glu4137=) c.12408G>A (p.Glu4136=) c.12390G>A (p.Glu4130=) c.12366G>A (p.Glu4122=) c.12363G>A (p.Glu4121=) c.12360G>A (p.Glu4120=) c.12312G>A (p.Glu4104=) c.12300G>A (p.Glu4100=) c.12162G>A (p.Glu4054=) c.12009G>A (p.Glu4003=) | |
X | g.53537664T>A | CA413155857 | HUWE1 | c.11813A>T (p.Glu3938Val) c.12029A>T (p.Glu4010Val) c.2496A>T n.164A>T c.12002A>T (p.Glu4001Val) c.12278A>T (p.Glu4093Val) c.12275A>T (p.Glu4092Val) c.12233A>T (p.Glu4078Val) c.12230A>T (p.Glu4077Val) c.12227A>T (p.Glu4076Val) c.12179A>T (p.Glu4060Val) c.11876A>T (p.Glu3959Val) c.12410A>T (p.Glu4137Val) c.12407A>T (p.Glu4136Val) c.12389A>T (p.Glu4130Val) c.12365A>T (p.Glu4122Val) c.12362A>T (p.Glu4121Val) c.12359A>T (p.Glu4120Val) c.12311A>T (p.Glu4104Val) c.12299A>T (p.Glu4100Val) c.12161A>T (p.Glu4054Val) c.12008A>T (p.Glu4003Val) | |
X | g.53537664T>C | CA413155855 | HUWE1 | c.11813A>G (p.Glu3938Gly) c.12029A>G (p.Glu4010Gly) c.2496A>G n.164A>G c.12002A>G (p.Glu4001Gly) c.12278A>G (p.Glu4093Gly) c.12275A>G (p.Glu4092Gly) c.12233A>G (p.Glu4078Gly) c.12230A>G (p.Glu4077Gly) c.12227A>G (p.Glu4076Gly) c.12179A>G (p.Glu4060Gly) c.11876A>G (p.Glu3959Gly) c.12410A>G (p.Glu4137Gly) c.12407A>G (p.Glu4136Gly) c.12389A>G (p.Glu4130Gly) c.12365A>G (p.Glu4122Gly) c.12362A>G (p.Glu4121Gly) c.12359A>G (p.Glu4120Gly) c.12311A>G (p.Glu4104Gly) c.12299A>G (p.Glu4100Gly) c.12161A>G (p.Glu4054Gly) c.12008A>G (p.Glu4003Gly) | |
X | g.53537664T>G | CA413155856 | HUWE1 | c.11813A>C (p.Glu3938Ala) c.12029A>C (p.Glu4010Ala) c.2496A>C n.164A>C c.12002A>C (p.Glu4001Ala) c.12278A>C (p.Glu4093Ala) c.12275A>C (p.Glu4092Ala) c.12233A>C (p.Glu4078Ala) c.12230A>C (p.Glu4077Ala) c.12227A>C (p.Glu4076Ala) c.12179A>C (p.Glu4060Ala) c.11876A>C (p.Glu3959Ala) c.12410A>C (p.Glu4137Ala) c.12407A>C (p.Glu4136Ala) c.12389A>C (p.Glu4130Ala) c.12365A>C (p.Glu4122Ala) c.12362A>C (p.Glu4121Ala) c.12359A>C (p.Glu4120Ala) c.12311A>C (p.Glu4104Ala) c.12299A>C (p.Glu4100Ala) c.12161A>C (p.Glu4054Ala) c.12008A>C (p.Glu4003Ala) | |
X | g.53537665C>A | CA413155859 | HUWE1 | c.11812G>T (p.Glu3938Ter) c.12028G>T (p.Glu4010Ter) c.2495G>T n.163G>T c.12001G>T (p.Glu4001Ter) c.12277G>T (p.Glu4093Ter) c.12274G>T (p.Glu4092Ter) c.12232G>T (p.Glu4078Ter) c.12229G>T (p.Glu4077Ter) c.12226G>T (p.Glu4076Ter) c.12178G>T (p.Glu4060Ter) c.11875G>T (p.Glu3959Ter) c.12409G>T (p.Glu4137Ter) c.12406G>T (p.Glu4136Ter) c.12388G>T (p.Glu4130Ter) c.12364G>T (p.Glu4122Ter) c.12361G>T (p.Glu4121Ter) c.12358G>T (p.Glu4120Ter) c.12310G>T (p.Glu4104Ter) c.12298G>T (p.Glu4100Ter) c.12160G>T (p.Glu4054Ter) c.12007G>T (p.Glu4003Ter) | |
X | g.53537665C>G | CA413155861 | HUWE1 | c.11812G>C (p.Glu3938Gln) c.12028G>C (p.Glu4010Gln) c.2495G>C n.163G>C c.12001G>C (p.Glu4001Gln) c.12277G>C (p.Glu4093Gln) c.12274G>C (p.Glu4092Gln) c.12232G>C (p.Glu4078Gln) c.12229G>C (p.Glu4077Gln) c.12226G>C (p.Glu4076Gln) c.12178G>C (p.Glu4060Gln) c.11875G>C (p.Glu3959Gln) c.12409G>C (p.Glu4137Gln) c.12406G>C (p.Glu4136Gln) c.12388G>C (p.Glu4130Gln) c.12364G>C (p.Glu4122Gln) c.12361G>C (p.Glu4121Gln) c.12358G>C (p.Glu4120Gln) c.12310G>C (p.Glu4104Gln) c.12298G>C (p.Glu4100Gln) c.12160G>C (p.Glu4054Gln) c.12007G>C (p.Glu4003Gln) | |
X | g.53537665C>T | CA413155867 | HUWE1 | c.11812G>A (p.Glu3938Lys) c.12028G>A (p.Glu4010Lys) c.2495G>A n.163G>A c.12001G>A (p.Glu4001Lys) c.12277G>A (p.Glu4093Lys) c.12274G>A (p.Glu4092Lys) c.12232G>A (p.Glu4078Lys) c.12229G>A (p.Glu4077Lys) c.12226G>A (p.Glu4076Lys) c.12178G>A (p.Glu4060Lys) c.11875G>A (p.Glu3959Lys) c.12409G>A (p.Glu4137Lys) c.12406G>A (p.Glu4136Lys) c.12388G>A (p.Glu4130Lys) c.12364G>A (p.Glu4122Lys) c.12361G>A (p.Glu4121Lys) c.12358G>A (p.Glu4120Lys) c.12310G>A (p.Glu4104Lys) c.12298G>A (p.Glu4100Lys) c.12160G>A (p.Glu4054Lys) c.12007G>A (p.Glu4003Lys) | |
X | g.53537666A>C | CA413155872 | HUWE1 | c.11811T>G (p.Asp3937Glu) c.12027T>G (p.Asp4009Glu) c.2494T>G n.162T>G c.12000T>G (p.Asp4000Glu) c.12276T>G (p.Asp4092Glu) c.12273T>G (p.Asp4091Glu) c.12231T>G (p.Asp4077Glu) c.12228T>G (p.Asp4076Glu) c.12225T>G (p.Asp4075Glu) c.12177T>G (p.Asp4059Glu) c.11874T>G (p.Asp3958Glu) c.12408T>G (p.Asp4136Glu) c.12405T>G (p.Asp4135Glu) c.12387T>G (p.Asp4129Glu) c.12363T>G (p.Asp4121Glu) c.12360T>G (p.Asp4120Glu) c.12357T>G (p.Asp4119Glu) c.12309T>G (p.Asp4103Glu) c.12297T>G (p.Asp4099Glu) c.12159T>G (p.Asp4053Glu) c.12006T>G (p.Asp4002Glu) | |
X | g.53537666A>G | CA516423991 | HUWE1 | c.11811T>C (p.Asp3937=) c.12027T>C (p.Asp4009=) c.2494T>C n.162T>C c.12000T>C (p.Asp4000=) c.12276T>C (p.Asp4092=) c.12273T>C (p.Asp4091=) c.12231T>C (p.Asp4077=) c.12228T>C (p.Asp4076=) c.12225T>C (p.Asp4075=) c.12177T>C (p.Asp4059=) c.11874T>C (p.Asp3958=) c.12408T>C (p.Asp4136=) c.12405T>C (p.Asp4135=) c.12387T>C (p.Asp4129=) c.12363T>C (p.Asp4121=) c.12360T>C (p.Asp4120=) c.12357T>C (p.Asp4119=) c.12309T>C (p.Asp4103=) c.12297T>C (p.Asp4099=) c.12159T>C (p.Asp4053=) c.12006T>C (p.Asp4002=) | |
X | g.53537666A>T | CA413155887 | HUWE1 | c.11811T>A (p.Asp3937Glu) c.12027T>A (p.Asp4009Glu) c.2494T>A n.162T>A c.12000T>A (p.Asp4000Glu) c.12276T>A (p.Asp4092Glu) c.12273T>A (p.Asp4091Glu) c.12231T>A (p.Asp4077Glu) c.12228T>A (p.Asp4076Glu) c.12225T>A (p.Asp4075Glu) c.12177T>A (p.Asp4059Glu) c.11874T>A (p.Asp3958Glu) c.12408T>A (p.Asp4136Glu) c.12405T>A (p.Asp4135Glu) c.12387T>A (p.Asp4129Glu) c.12363T>A (p.Asp4121Glu) c.12360T>A (p.Asp4120Glu) c.12357T>A (p.Asp4119Glu) c.12309T>A (p.Asp4103Glu) c.12297T>A (p.Asp4099Glu) c.12159T>A (p.Asp4053Glu) c.12006T>A (p.Asp4002Glu) | |
X | g.53537667T>A | CA413155902 | HUWE1 | c.11810A>T (p.Asp3937Val) c.12026A>T (p.Asp4009Val) c.2493A>T n.161A>T c.11999A>T (p.Asp4000Val) c.12275A>T (p.Asp4092Val) c.12272A>T (p.Asp4091Val) c.12230A>T (p.Asp4077Val) c.12227A>T (p.Asp4076Val) c.12224A>T (p.Asp4075Val) c.12176A>T (p.Asp4059Val) c.11873A>T (p.Asp3958Val) c.12407A>T (p.Asp4136Val) c.12404A>T (p.Asp4135Val) c.12386A>T (p.Asp4129Val) c.12362A>T (p.Asp4121Val) c.12359A>T (p.Asp4120Val) c.12356A>T (p.Asp4119Val) c.12308A>T (p.Asp4103Val) c.12296A>T (p.Asp4099Val) c.12158A>T (p.Asp4053Val) c.12005A>T (p.Asp4002Val) | |
X | g.53537667T>C | CA413155900 | HUWE1 | c.11810A>G (p.Asp3937Gly) c.12026A>G (p.Asp4009Gly) c.2493A>G n.161A>G c.11999A>G (p.Asp4000Gly) c.12275A>G (p.Asp4092Gly) c.12272A>G (p.Asp4091Gly) c.12230A>G (p.Asp4077Gly) c.12227A>G (p.Asp4076Gly) c.12224A>G (p.Asp4075Gly) c.12176A>G (p.Asp4059Gly) c.11873A>G (p.Asp3958Gly) c.12407A>G (p.Asp4136Gly) c.12404A>G (p.Asp4135Gly) c.12386A>G (p.Asp4129Gly) c.12362A>G (p.Asp4121Gly) c.12359A>G (p.Asp4120Gly) c.12356A>G (p.Asp4119Gly) c.12308A>G (p.Asp4103Gly) c.12296A>G (p.Asp4099Gly) c.12158A>G (p.Asp4053Gly) c.12005A>G (p.Asp4002Gly) | |
X | g.53537667T>G | CA413155897 | HUWE1 | c.11810A>C (p.Asp3937Ala) c.12026A>C (p.Asp4009Ala) c.2493A>C n.161A>C c.11999A>C (p.Asp4000Ala) c.12275A>C (p.Asp4092Ala) c.12272A>C (p.Asp4091Ala) c.12230A>C (p.Asp4077Ala) c.12227A>C (p.Asp4076Ala) c.12224A>C (p.Asp4075Ala) c.12176A>C (p.Asp4059Ala) c.11873A>C (p.Asp3958Ala) c.12407A>C (p.Asp4136Ala) c.12404A>C (p.Asp4135Ala) c.12386A>C (p.Asp4129Ala) c.12362A>C (p.Asp4121Ala) c.12359A>C (p.Asp4120Ala) c.12356A>C (p.Asp4119Ala) c.12308A>C (p.Asp4103Ala) c.12296A>C (p.Asp4099Ala) c.12158A>C (p.Asp4053Ala) c.12005A>C (p.Asp4002Ala) | |
X | g.53537668C>A | CA413155909 | HUWE1 | c.11809G>T (p.Asp3937Tyr) c.12025G>T (p.Asp4009Tyr) c.2492G>T n.160G>T c.11998G>T (p.Asp4000Tyr) c.12274G>T (p.Asp4092Tyr) c.12271G>T (p.Asp4091Tyr) c.12229G>T (p.Asp4077Tyr) c.12226G>T (p.Asp4076Tyr) c.12223G>T (p.Asp4075Tyr) c.12175G>T (p.Asp4059Tyr) c.11872G>T (p.Asp3958Tyr) c.12406G>T (p.Asp4136Tyr) c.12403G>T (p.Asp4135Tyr) c.12385G>T (p.Asp4129Tyr) c.12361G>T (p.Asp4121Tyr) c.12358G>T (p.Asp4120Tyr) c.12355G>T (p.Asp4119Tyr) c.12307G>T (p.Asp4103Tyr) c.12295G>T (p.Asp4099Tyr) c.12157G>T (p.Asp4053Tyr) c.12004G>T (p.Asp4002Tyr) | |
X | g.53537668C>G | CA413155918 | HUWE1 | c.11809G>C (p.Asp3937His) c.12025G>C (p.Asp4009His) c.2492G>C n.160G>C c.11998G>C (p.Asp4000His) c.12274G>C (p.Asp4092His) c.12271G>C (p.Asp4091His) c.12229G>C (p.Asp4077His) c.12226G>C (p.Asp4076His) c.12223G>C (p.Asp4075His) c.12175G>C (p.Asp4059His) c.11872G>C (p.Asp3958His) c.12406G>C (p.Asp4136His) c.12403G>C (p.Asp4135His) c.12385G>C (p.Asp4129His) c.12361G>C (p.Asp4121His) c.12358G>C (p.Asp4120His) c.12355G>C (p.Asp4119His) c.12307G>C (p.Asp4103His) c.12295G>C (p.Asp4099His) c.12157G>C (p.Asp4053His) c.12004G>C (p.Asp4002His) | |
X | g.53537668C>T | CA413155914 | HUWE1 | c.11809G>A (p.Asp3937Asn) c.12025G>A (p.Asp4009Asn) c.2492G>A n.160G>A c.11998G>A (p.Asp4000Asn) c.12274G>A (p.Asp4092Asn) c.12271G>A (p.Asp4091Asn) c.12229G>A (p.Asp4077Asn) c.12226G>A (p.Asp4076Asn) c.12223G>A (p.Asp4075Asn) c.12175G>A (p.Asp4059Asn) c.11872G>A (p.Asp3958Asn) c.12406G>A (p.Asp4136Asn) c.12403G>A (p.Asp4135Asn) c.12385G>A (p.Asp4129Asn) c.12361G>A (p.Asp4121Asn) c.12358G>A (p.Asp4120Asn) c.12355G>A (p.Asp4119Asn) c.12307G>A (p.Asp4103Asn) c.12295G>A (p.Asp4099Asn) c.12157G>A (p.Asp4053Asn) c.12004G>A (p.Asp4002Asn) | |
X | g.53537669T>A | CA413155923 | HUWE1 | c.11808A>T (p.Leu3936Phe) c.12024A>T (p.Leu4008Phe) c.2491A>T n.159A>T c.11997A>T (p.Leu3999Phe) c.12273A>T (p.Leu4091Phe) c.12270A>T (p.Leu4090Phe) c.12228A>T (p.Leu4076Phe) c.12225A>T (p.Leu4075Phe) c.12222A>T (p.Leu4074Phe) c.12174A>T (p.Leu4058Phe) c.11871A>T (p.Leu3957Phe) c.12405A>T (p.Leu4135Phe) c.12402A>T (p.Leu4134Phe) c.12384A>T (p.Leu4128Phe) c.12360A>T (p.Leu4120Phe) c.12357A>T (p.Leu4119Phe) c.12354A>T (p.Leu4118Phe) c.12306A>T (p.Leu4102Phe) c.12294A>T (p.Leu4098Phe) c.12156A>T (p.Leu4052Phe) c.12003A>T (p.Leu4001Phe) | |
X | g.53537669T>C | CA516424010 | HUWE1 | c.11808A>G (p.Leu3936=) c.12024A>G (p.Leu4008=) c.2491A>G n.159A>G c.11997A>G (p.Leu3999=) c.12273A>G (p.Leu4091=) c.12270A>G (p.Leu4090=) c.12228A>G (p.Leu4076=) c.12225A>G (p.Leu4075=) c.12222A>G (p.Leu4074=) c.12174A>G (p.Leu4058=) c.11871A>G (p.Leu3957=) c.12405A>G (p.Leu4135=) c.12402A>G (p.Leu4134=) c.12384A>G (p.Leu4128=) c.12360A>G (p.Leu4120=) c.12357A>G (p.Leu4119=) c.12354A>G (p.Leu4118=) c.12306A>G (p.Leu4102=) c.12294A>G (p.Leu4098=) c.12156A>G (p.Leu4052=) c.12003A>G (p.Leu4001=) | gnomAD v4 |
X | g.53537669T>G | CA413155924 | HUWE1 | c.11808A>C (p.Leu3936Phe) c.12024A>C (p.Leu4008Phe) c.2491A>C n.159A>C c.11997A>C (p.Leu3999Phe) c.12273A>C (p.Leu4091Phe) c.12270A>C (p.Leu4090Phe) c.12228A>C (p.Leu4076Phe) c.12225A>C (p.Leu4075Phe) c.12222A>C (p.Leu4074Phe) c.12174A>C (p.Leu4058Phe) c.11871A>C (p.Leu3957Phe) c.12405A>C (p.Leu4135Phe) c.12402A>C (p.Leu4134Phe) c.12384A>C (p.Leu4128Phe) c.12360A>C (p.Leu4120Phe) c.12357A>C (p.Leu4119Phe) c.12354A>C (p.Leu4118Phe) c.12306A>C (p.Leu4102Phe) c.12294A>C (p.Leu4098Phe) c.12156A>C (p.Leu4052Phe) c.12003A>C (p.Leu4001Phe) | |
X | g.53537670A>C | CA413155927 | HUWE1 | c.11807T>G (p.Leu3936Ter) c.12023T>G (p.Leu4008Ter) c.2490T>G n.158T>G c.11996T>G (p.Leu3999Ter) c.12272T>G (p.Leu4091Ter) c.12269T>G (p.Leu4090Ter) c.12227T>G (p.Leu4076Ter) c.12224T>G (p.Leu4075Ter) c.12221T>G (p.Leu4074Ter) c.12173T>G (p.Leu4058Ter) c.11870T>G (p.Leu3957Ter) c.12404T>G (p.Leu4135Ter) c.12401T>G (p.Leu4134Ter) c.12383T>G (p.Leu4128Ter) c.12359T>G (p.Leu4120Ter) c.12356T>G (p.Leu4119Ter) c.12353T>G (p.Leu4118Ter) c.12305T>G (p.Leu4102Ter) c.12293T>G (p.Leu4098Ter) c.12155T>G (p.Leu4052Ter) c.12002T>G (p.Leu4001Ter) | |
X | g.53537670A>G | CA413155931 | HUWE1 | c.11807T>C (p.Leu3936Ser) c.12023T>C (p.Leu4008Ser) c.2490T>C n.158T>C c.11996T>C (p.Leu3999Ser) c.12272T>C (p.Leu4091Ser) c.12269T>C (p.Leu4090Ser) c.12227T>C (p.Leu4076Ser) c.12224T>C (p.Leu4075Ser) c.12221T>C (p.Leu4074Ser) c.12173T>C (p.Leu4058Ser) c.11870T>C (p.Leu3957Ser) c.12404T>C (p.Leu4135Ser) c.12401T>C (p.Leu4134Ser) c.12383T>C (p.Leu4128Ser) c.12359T>C (p.Leu4120Ser) c.12356T>C (p.Leu4119Ser) c.12353T>C (p.Leu4118Ser) c.12305T>C (p.Leu4102Ser) c.12293T>C (p.Leu4098Ser) c.12155T>C (p.Leu4052Ser) c.12002T>C (p.Leu4001Ser) | |
X | g.53537670A>T | CA413155930 | HUWE1 | c.11807T>A (p.Leu3936Ter) c.12023T>A (p.Leu4008Ter) c.2490T>A n.158T>A c.11996T>A (p.Leu3999Ter) c.12272T>A (p.Leu4091Ter) c.12269T>A (p.Leu4090Ter) c.12227T>A (p.Leu4076Ter) c.12224T>A (p.Leu4075Ter) c.12221T>A (p.Leu4074Ter) c.12173T>A (p.Leu4058Ter) c.11870T>A (p.Leu3957Ter) c.12404T>A (p.Leu4135Ter) c.12401T>A (p.Leu4134Ter) c.12383T>A (p.Leu4128Ter) c.12359T>A (p.Leu4120Ter) c.12356T>A (p.Leu4119Ter) c.12353T>A (p.Leu4118Ter) c.12305T>A (p.Leu4102Ter) c.12293T>A (p.Leu4098Ter) c.12155T>A (p.Leu4052Ter) c.12002T>A (p.Leu4001Ter) | |
X | g.53537671A>C | CA413155939 | HUWE1 | c.11806T>G (p.Leu3936Val) c.12022T>G (p.Leu4008Val) c.2489T>G n.157T>G c.11995T>G (p.Leu3999Val) c.12271T>G (p.Leu4091Val) c.12268T>G (p.Leu4090Val) c.12226T>G (p.Leu4076Val) c.12223T>G (p.Leu4075Val) c.12220T>G (p.Leu4074Val) c.12172T>G (p.Leu4058Val) c.11869T>G (p.Leu3957Val) c.12403T>G (p.Leu4135Val) c.12400T>G (p.Leu4134Val) c.12382T>G (p.Leu4128Val) c.12358T>G (p.Leu4120Val) c.12355T>G (p.Leu4119Val) c.12352T>G (p.Leu4118Val) c.12304T>G (p.Leu4102Val) c.12292T>G (p.Leu4098Val) c.12154T>G (p.Leu4052Val) c.12001T>G (p.Leu4001Val) | |
X | g.53537671A>G | CA516424017 | HUWE1 | c.11806T>C (p.Leu3936=) c.12022T>C (p.Leu4008=) c.2489T>C n.157T>C c.11995T>C (p.Leu3999=) c.12271T>C (p.Leu4091=) c.12268T>C (p.Leu4090=) c.12226T>C (p.Leu4076=) c.12223T>C (p.Leu4075=) c.12220T>C (p.Leu4074=) c.12172T>C (p.Leu4058=) c.11869T>C (p.Leu3957=) c.12403T>C (p.Leu4135=) c.12400T>C (p.Leu4134=) c.12382T>C (p.Leu4128=) c.12358T>C (p.Leu4120=) c.12355T>C (p.Leu4119=) c.12352T>C (p.Leu4118=) c.12304T>C (p.Leu4102=) c.12292T>C (p.Leu4098=) c.12154T>C (p.Leu4052=) c.12001T>C (p.Leu4001=) | |
X | g.53537671A>T | CA413155945 | HUWE1 | c.11806T>A (p.Leu3936Ile) c.12022T>A (p.Leu4008Ile) c.2489T>A n.157T>A c.11995T>A (p.Leu3999Ile) c.12271T>A (p.Leu4091Ile) c.12268T>A (p.Leu4090Ile) c.12226T>A (p.Leu4076Ile) c.12223T>A (p.Leu4075Ile) c.12220T>A (p.Leu4074Ile) c.12172T>A (p.Leu4058Ile) c.11869T>A (p.Leu3957Ile) c.12403T>A (p.Leu4135Ile) c.12400T>A (p.Leu4134Ile) c.12382T>A (p.Leu4128Ile) c.12358T>A (p.Leu4120Ile) c.12355T>A (p.Leu4119Ile) c.12352T>A (p.Leu4118Ile) c.12304T>A (p.Leu4102Ile) c.12292T>A (p.Leu4098Ile) c.12154T>A (p.Leu4052Ile) c.12001T>A (p.Leu4001Ile) | |
X | g.53537672A>C | CA516424021 | HUWE1 | c.11805T>G (p.Arg3935=) c.12021T>G (p.Arg4007=) c.2488T>G n.156T>G c.11994T>G (p.Arg3998=) c.12270T>G (p.Arg4090=) c.12267T>G (p.Arg4089=) c.12225T>G (p.Arg4075=) c.12222T>G (p.Arg4074=) c.12219T>G (p.Arg4073=) c.12171T>G (p.Arg4057=) c.11868T>G (p.Arg3956=) c.12402T>G (p.Arg4134=) c.12399T>G (p.Arg4133=) c.12381T>G (p.Arg4127=) c.12357T>G (p.Arg4119=) c.12354T>G (p.Arg4118=) c.12351T>G (p.Arg4117=) c.12303T>G (p.Arg4101=) c.12291T>G (p.Arg4097=) c.12153T>G (p.Arg4051=) c.12000T>G (p.Arg4000=) | gnomAD v4 |
X | g.53537672A>G | CA516424023 | HUWE1 | c.11805T>C (p.Arg3935=) c.12021T>C (p.Arg4007=) c.2488T>C n.156T>C c.11994T>C (p.Arg3998=) c.12270T>C (p.Arg4090=) c.12267T>C (p.Arg4089=) c.12225T>C (p.Arg4075=) c.12222T>C (p.Arg4074=) c.12219T>C (p.Arg4073=) c.12171T>C (p.Arg4057=) c.11868T>C (p.Arg3956=) c.12402T>C (p.Arg4134=) c.12399T>C (p.Arg4133=) c.12381T>C (p.Arg4127=) c.12357T>C (p.Arg4119=) c.12354T>C (p.Arg4118=) c.12351T>C (p.Arg4117=) c.12303T>C (p.Arg4101=) c.12291T>C (p.Arg4097=) c.12153T>C (p.Arg4051=) c.12000T>C (p.Arg4000=) | |
X | g.53537672A>T | CA516424024 | HUWE1 | c.11805T>A (p.Arg3935=) c.12021T>A (p.Arg4007=) c.2488T>A n.156T>A c.11994T>A (p.Arg3998=) c.12270T>A (p.Arg4090=) c.12267T>A (p.Arg4089=) c.12225T>A (p.Arg4075=) c.12222T>A (p.Arg4074=) c.12219T>A (p.Arg4073=) c.12171T>A (p.Arg4057=) c.11868T>A (p.Arg3956=) c.12402T>A (p.Arg4134=) c.12399T>A (p.Arg4133=) c.12381T>A (p.Arg4127=) c.12357T>A (p.Arg4119=) c.12354T>A (p.Arg4118=) c.12351T>A (p.Arg4117=) c.12303T>A (p.Arg4101=) c.12291T>A (p.Arg4097=) c.12153T>A (p.Arg4051=) c.12000T>A (p.Arg4000=) | |
X | g.53537673C>A | CA413155957 | HUWE1 | c.11804G>T (p.Arg3935Leu) c.12020G>T (p.Arg4007Leu) c.2487G>T n.155G>T c.11993G>T (p.Arg3998Leu) c.12269G>T (p.Arg4090Leu) c.12266G>T (p.Arg4089Leu) c.12224G>T (p.Arg4075Leu) c.12221G>T (p.Arg4074Leu) c.12218G>T (p.Arg4073Leu) c.12170G>T (p.Arg4057Leu) c.11867G>T (p.Arg3956Leu) c.12401G>T (p.Arg4134Leu) c.12398G>T (p.Arg4133Leu) c.12380G>T (p.Arg4127Leu) c.12356G>T (p.Arg4119Leu) c.12353G>T (p.Arg4118Leu) c.12350G>T (p.Arg4117Leu) c.12302G>T (p.Arg4101Leu) c.12290G>T (p.Arg4097Leu) c.12152G>T (p.Arg4051Leu) c.11999G>T (p.Arg4000Leu) | |
X | g.53537673C= | CA2429870469 | HUWE1 | c.11804G= (p.Arg3935=) c.12020G= (p.Arg4007=) c.2487G= n.155G= c.11993G= (p.Arg3998=) c.12269G= (p.Arg4090=) c.12266G= (p.Arg4089=) c.12224G= (p.Arg4075=) c.12221G= (p.Arg4074=) c.12218G= (p.Arg4073=) c.12170G= (p.Arg4057=) c.11867G= (p.Arg3956=) c.12401G= (p.Arg4134=) c.12398G= (p.Arg4133=) c.12380G= (p.Arg4127=) c.12356G= (p.Arg4119=) c.12353G= (p.Arg4118=) c.12350G= (p.Arg4117=) c.12302G= (p.Arg4101=) c.12290G= (p.Arg4097=) c.12152G= (p.Arg4051=) c.11999G= (p.Arg4000=) | |
X | g.53537673C>G | CA413155962 | HUWE1 | c.11804G>C (p.Arg3935Pro) c.12020G>C (p.Arg4007Pro) c.2487G>C n.155G>C c.11993G>C (p.Arg3998Pro) c.12269G>C (p.Arg4090Pro) c.12266G>C (p.Arg4089Pro) c.12224G>C (p.Arg4075Pro) c.12221G>C (p.Arg4074Pro) c.12218G>C (p.Arg4073Pro) c.12170G>C (p.Arg4057Pro) c.11867G>C (p.Arg3956Pro) c.12401G>C (p.Arg4134Pro) c.12398G>C (p.Arg4133Pro) c.12380G>C (p.Arg4127Pro) c.12356G>C (p.Arg4119Pro) c.12353G>C (p.Arg4118Pro) c.12350G>C (p.Arg4117Pro) c.12302G>C (p.Arg4101Pro) c.12290G>C (p.Arg4097Pro) c.12152G>C (p.Arg4051Pro) c.11999G>C (p.Arg4000Pro) | |
X | g.53537673C>T | CA413155981 | HUWE1 | c.11804G>A (p.Arg3935His) c.12020G>A (p.Arg4007His) c.2487G>A n.155G>A c.11993G>A (p.Arg3998His) c.12269G>A (p.Arg4090His) c.12266G>A (p.Arg4089His) c.12224G>A (p.Arg4075His) c.12221G>A (p.Arg4074His) c.12218G>A (p.Arg4073His) c.12170G>A (p.Arg4057His) c.11867G>A (p.Arg3956His) c.12401G>A (p.Arg4134His) c.12398G>A (p.Arg4133His) c.12380G>A (p.Arg4127His) c.12356G>A (p.Arg4119His) c.12353G>A (p.Arg4118His) c.12350G>A (p.Arg4117His) c.12302G>A (p.Arg4101His) c.12290G>A (p.Arg4097His) c.12152G>A (p.Arg4051His) c.11999G>A (p.Arg4000His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53537674G>A | CA413155989 | HUWE1 | c.11803C>T (p.Arg3935Cys) c.12019C>T (p.Arg4007Cys) c.2486C>T n.154C>T c.11992C>T (p.Arg3998Cys) c.12268C>T (p.Arg4090Cys) c.12265C>T (p.Arg4089Cys) c.12223C>T (p.Arg4075Cys) c.12220C>T (p.Arg4074Cys) c.12217C>T (p.Arg4073Cys) c.12169C>T (p.Arg4057Cys) c.11866C>T (p.Arg3956Cys) c.12400C>T (p.Arg4134Cys) c.12397C>T (p.Arg4133Cys) c.12379C>T (p.Arg4127Cys) c.12355C>T (p.Arg4119Cys) c.12352C>T (p.Arg4118Cys) c.12349C>T (p.Arg4117Cys) c.12301C>T (p.Arg4101Cys) c.12289C>T (p.Arg4097Cys) c.12151C>T (p.Arg4051Cys) c.11998C>T (p.Arg4000Cys) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53537674G>C | CA413155995 | HUWE1 | c.11803C>G (p.Arg3935Gly) c.12019C>G (p.Arg4007Gly) c.2486C>G n.154C>G c.11992C>G (p.Arg3998Gly) c.12268C>G (p.Arg4090Gly) c.12265C>G (p.Arg4089Gly) c.12223C>G (p.Arg4075Gly) c.12220C>G (p.Arg4074Gly) c.12217C>G (p.Arg4073Gly) c.12169C>G (p.Arg4057Gly) c.11866C>G (p.Arg3956Gly) c.12400C>G (p.Arg4134Gly) c.12397C>G (p.Arg4133Gly) c.12379C>G (p.Arg4127Gly) c.12355C>G (p.Arg4119Gly) c.12352C>G (p.Arg4118Gly) c.12349C>G (p.Arg4117Gly) c.12301C>G (p.Arg4101Gly) c.12289C>G (p.Arg4097Gly) c.12151C>G (p.Arg4051Gly) c.11998C>G (p.Arg4000Gly) | |
X | g.53537674G= | CA2429870470 | HUWE1 | c.11803C= (p.Arg3935=) c.12019C= (p.Arg4007=) c.2486C= n.154C= c.11992C= (p.Arg3998=) c.12268C= (p.Arg4090=) c.12265C= (p.Arg4089=) c.12223C= (p.Arg4075=) c.12220C= (p.Arg4074=) c.12217C= (p.Arg4073=) c.12169C= (p.Arg4057=) c.11866C= (p.Arg3956=) c.12400C= (p.Arg4134=) c.12397C= (p.Arg4133=) c.12379C= (p.Arg4127=) c.12355C= (p.Arg4119=) c.12352C= (p.Arg4118=) c.12349C= (p.Arg4117=) c.12301C= (p.Arg4101=) c.12289C= (p.Arg4097=) c.12151C= (p.Arg4051=) c.11998C= (p.Arg4000=) | |
X | g.53537674G>T | CA413155999 | HUWE1 | c.11803C>A (p.Arg3935Ser) c.12019C>A (p.Arg4007Ser) c.2486C>A n.154C>A c.11992C>A (p.Arg3998Ser) c.12268C>A (p.Arg4090Ser) c.12265C>A (p.Arg4089Ser) c.12223C>A (p.Arg4075Ser) c.12220C>A (p.Arg4074Ser) c.12217C>A (p.Arg4073Ser) c.12169C>A (p.Arg4057Ser) c.11866C>A (p.Arg3956Ser) c.12400C>A (p.Arg4134Ser) c.12397C>A (p.Arg4133Ser) c.12379C>A (p.Arg4127Ser) c.12355C>A (p.Arg4119Ser) c.12352C>A (p.Arg4118Ser) c.12349C>A (p.Arg4117Ser) c.12301C>A (p.Arg4101Ser) c.12289C>A (p.Arg4097Ser) c.12151C>A (p.Arg4051Ser) c.11998C>A (p.Arg4000Ser) | |
X | g.53537675C>A | CA413156006 | HUWE1 | c.11802G>T (p.Glu3934Asp) c.12018G>T (p.Glu4006Asp) c.2485G>T n.153G>T c.11991G>T (p.Glu3997Asp) c.12267G>T (p.Glu4089Asp) c.12264G>T (p.Glu4088Asp) c.12222G>T (p.Glu4074Asp) c.12219G>T (p.Glu4073Asp) c.12216G>T (p.Glu4072Asp) c.12168G>T (p.Glu4056Asp) c.11865G>T (p.Glu3955Asp) c.12399G>T (p.Glu4133Asp) c.12396G>T (p.Glu4132Asp) c.12378G>T (p.Glu4126Asp) c.12354G>T (p.Glu4118Asp) c.12351G>T (p.Glu4117Asp) c.12348G>T (p.Glu4116Asp) c.12300G>T (p.Glu4100Asp) c.12288G>T (p.Glu4096Asp) c.12150G>T (p.Glu4050Asp) c.11997G>T (p.Glu3999Asp) | COSMIC COSMIC |
X | g.53537675C= | CA2429870471 | HUWE1 | c.11802G= (p.Glu3934=) c.12018G= (p.Glu4006=) c.2485G= n.153G= c.11991G= (p.Glu3997=) c.12267G= (p.Glu4089=) c.12264G= (p.Glu4088=) c.12222G= (p.Glu4074=) c.12219G= (p.Glu4073=) c.12216G= (p.Glu4072=) c.12168G= (p.Glu4056=) c.11865G= (p.Glu3955=) c.12399G= (p.Glu4133=) c.12396G= (p.Glu4132=) c.12378G= (p.Glu4126=) c.12354G= (p.Glu4118=) c.12351G= (p.Glu4117=) c.12348G= (p.Glu4116=) c.12300G= (p.Glu4100=) c.12288G= (p.Glu4096=) c.12150G= (p.Glu4050=) c.11997G= (p.Glu3999=) | |
X | g.53537675C>G | CA413156008 | HUWE1 | c.11802G>C (p.Glu3934Asp) c.12018G>C (p.Glu4006Asp) c.2485G>C n.153G>C c.11991G>C (p.Glu3997Asp) c.12267G>C (p.Glu4089Asp) c.12264G>C (p.Glu4088Asp) c.12222G>C (p.Glu4074Asp) c.12219G>C (p.Glu4073Asp) c.12216G>C (p.Glu4072Asp) c.12168G>C (p.Glu4056Asp) c.11865G>C (p.Glu3955Asp) c.12399G>C (p.Glu4133Asp) c.12396G>C (p.Glu4132Asp) c.12378G>C (p.Glu4126Asp) c.12354G>C (p.Glu4118Asp) c.12351G>C (p.Glu4117Asp) c.12348G>C (p.Glu4116Asp) c.12300G>C (p.Glu4100Asp) c.12288G>C (p.Glu4096Asp) c.12150G>C (p.Glu4050Asp) c.11997G>C (p.Glu3999Asp) | |
X | g.53537675C>T | CA10421284 | HUWE1 | c.11802G>A (p.Glu3934=) c.12018G>A (p.Glu4006=) c.2485G>A n.153G>A c.11991G>A (p.Glu3997=) c.12267G>A (p.Glu4089=) c.12264G>A (p.Glu4088=) c.12222G>A (p.Glu4074=) c.12219G>A (p.Glu4073=) c.12216G>A (p.Glu4072=) c.12168G>A (p.Glu4056=) c.11865G>A (p.Glu3955=) c.12399G>A (p.Glu4133=) c.12396G>A (p.Glu4132=) c.12378G>A (p.Glu4126=) c.12354G>A (p.Glu4118=) c.12351G>A (p.Glu4117=) c.12348G>A (p.Glu4116=) c.12300G>A (p.Glu4100=) c.12288G>A (p.Glu4096=) c.12150G>A (p.Glu4050=) c.11997G>A (p.Glu3999=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53537676T>A | CA413156028 | HUWE1 | c.11801A>T (p.Glu3934Val) c.12017A>T (p.Glu4006Val) c.2484A>T n.152A>T c.11990A>T (p.Glu3997Val) c.12266A>T (p.Glu4089Val) c.12263A>T (p.Glu4088Val) c.12221A>T (p.Glu4074Val) c.12218A>T (p.Glu4073Val) c.12215A>T (p.Glu4072Val) c.12167A>T (p.Glu4056Val) c.11864A>T (p.Glu3955Val) c.12398A>T (p.Glu4133Val) c.12395A>T (p.Glu4132Val) c.12377A>T (p.Glu4126Val) c.12353A>T (p.Glu4118Val) c.12350A>T (p.Glu4117Val) c.12347A>T (p.Glu4116Val) c.12299A>T (p.Glu4100Val) c.12287A>T (p.Glu4096Val) c.12149A>T (p.Glu4050Val) c.11996A>T (p.Glu3999Val) | |
X | g.53537676T>C | CA413156018 | HUWE1 | c.11801A>G (p.Glu3934Gly) c.12017A>G (p.Glu4006Gly) c.2484A>G n.152A>G c.11990A>G (p.Glu3997Gly) c.12266A>G (p.Glu4089Gly) c.12263A>G (p.Glu4088Gly) c.12221A>G (p.Glu4074Gly) c.12218A>G (p.Glu4073Gly) c.12215A>G (p.Glu4072Gly) c.12167A>G (p.Glu4056Gly) c.11864A>G (p.Glu3955Gly) c.12398A>G (p.Glu4133Gly) c.12395A>G (p.Glu4132Gly) c.12377A>G (p.Glu4126Gly) c.12353A>G (p.Glu4118Gly) c.12350A>G (p.Glu4117Gly) c.12347A>G (p.Glu4116Gly) c.12299A>G (p.Glu4100Gly) c.12287A>G (p.Glu4096Gly) c.12149A>G (p.Glu4050Gly) c.11996A>G (p.Glu3999Gly) | gnomAD v4 |
X | g.53537676T>G | CA413156021 | HUWE1 | c.11801A>C (p.Glu3934Ala) c.12017A>C (p.Glu4006Ala) c.2484A>C n.152A>C c.11990A>C (p.Glu3997Ala) c.12266A>C (p.Glu4089Ala) c.12263A>C (p.Glu4088Ala) c.12221A>C (p.Glu4074Ala) c.12218A>C (p.Glu4073Ala) c.12215A>C (p.Glu4072Ala) c.12167A>C (p.Glu4056Ala) c.11864A>C (p.Glu3955Ala) c.12398A>C (p.Glu4133Ala) c.12395A>C (p.Glu4132Ala) c.12377A>C (p.Glu4126Ala) c.12353A>C (p.Glu4118Ala) c.12350A>C (p.Glu4117Ala) c.12347A>C (p.Glu4116Ala) c.12299A>C (p.Glu4100Ala) c.12287A>C (p.Glu4096Ala) c.12149A>C (p.Glu4050Ala) c.11996A>C (p.Glu3999Ala) | |
X | g.53537677C>A | CA413156036 | HUWE1 | c.11800G>T (p.Glu3934Ter) c.12016G>T (p.Glu4006Ter) c.2483G>T n.151G>T c.11989G>T (p.Glu3997Ter) c.12265G>T (p.Glu4089Ter) c.12262G>T (p.Glu4088Ter) c.12220G>T (p.Glu4074Ter) c.12217G>T (p.Glu4073Ter) c.12214G>T (p.Glu4072Ter) c.12166G>T (p.Glu4056Ter) c.11863G>T (p.Glu3955Ter) c.12397G>T (p.Glu4133Ter) c.12394G>T (p.Glu4132Ter) c.12376G>T (p.Glu4126Ter) c.12352G>T (p.Glu4118Ter) c.12349G>T (p.Glu4117Ter) c.12346G>T (p.Glu4116Ter) c.12298G>T (p.Glu4100Ter) c.12286G>T (p.Glu4096Ter) c.12148G>T (p.Glu4050Ter) c.11995G>T (p.Glu3999Ter) | gnomAD v4 |
X | g.53537677C>G | CA413156038 | HUWE1 | c.11800G>C (p.Glu3934Gln) c.12016G>C (p.Glu4006Gln) c.2483G>C n.151G>C c.11989G>C (p.Glu3997Gln) c.12265G>C (p.Glu4089Gln) c.12262G>C (p.Glu4088Gln) c.12220G>C (p.Glu4074Gln) c.12217G>C (p.Glu4073Gln) c.12214G>C (p.Glu4072Gln) c.12166G>C (p.Glu4056Gln) c.11863G>C (p.Glu3955Gln) c.12397G>C (p.Glu4133Gln) c.12394G>C (p.Glu4132Gln) c.12376G>C (p.Glu4126Gln) c.12352G>C (p.Glu4118Gln) c.12349G>C (p.Glu4117Gln) c.12346G>C (p.Glu4116Gln) c.12298G>C (p.Glu4100Gln) c.12286G>C (p.Glu4096Gln) c.12148G>C (p.Glu4050Gln) c.11995G>C (p.Glu3999Gln) | |
X | g.53537677C>T | CA413156041 | HUWE1 | c.11800G>A (p.Glu3934Lys) c.12016G>A (p.Glu4006Lys) c.2483G>A n.151G>A c.11989G>A (p.Glu3997Lys) c.12265G>A (p.Glu4089Lys) c.12262G>A (p.Glu4088Lys) c.12220G>A (p.Glu4074Lys) c.12217G>A (p.Glu4073Lys) c.12214G>A (p.Glu4072Lys) c.12166G>A (p.Glu4056Lys) c.11863G>A (p.Glu3955Lys) c.12397G>A (p.Glu4133Lys) c.12394G>A (p.Glu4132Lys) c.12376G>A (p.Glu4126Lys) c.12352G>A (p.Glu4118Lys) c.12349G>A (p.Glu4117Lys) c.12346G>A (p.Glu4116Lys) c.12298G>A (p.Glu4100Lys) c.12286G>A (p.Glu4096Lys) c.12148G>A (p.Glu4050Lys) c.11995G>A (p.Glu3999Lys) | |
X | g.53537678C>A | CA516424050 | HUWE1 | c.11799G>T (p.Leu3933=) c.12015G>T (p.Leu4005=) c.2482G>T n.150G>T c.11988G>T (p.Leu3996=) c.12264G>T (p.Leu4088=) c.12261G>T (p.Leu4087=) c.12219G>T (p.Leu4073=) c.12216G>T (p.Leu4072=) c.12213G>T (p.Leu4071=) c.12165G>T (p.Leu4055=) c.11862G>T (p.Leu3954=) c.12396G>T (p.Leu4132=) c.12393G>T (p.Leu4131=) c.12375G>T (p.Leu4125=) c.12351G>T (p.Leu4117=) c.12348G>T (p.Leu4116=) c.12345G>T (p.Leu4115=) c.12297G>T (p.Leu4099=) c.12285G>T (p.Leu4095=) c.12147G>T (p.Leu4049=) c.11994G>T (p.Leu3998=) | |
X | g.53537678C>G | CA516424052 | HUWE1 | c.11799G>C (p.Leu3933=) c.12015G>C (p.Leu4005=) c.2482G>C n.150G>C c.11988G>C (p.Leu3996=) c.12264G>C (p.Leu4088=) c.12261G>C (p.Leu4087=) c.12219G>C (p.Leu4073=) c.12216G>C (p.Leu4072=) c.12213G>C (p.Leu4071=) c.12165G>C (p.Leu4055=) c.11862G>C (p.Leu3954=) c.12396G>C (p.Leu4132=) c.12393G>C (p.Leu4131=) c.12375G>C (p.Leu4125=) c.12351G>C (p.Leu4117=) c.12348G>C (p.Leu4116=) c.12345G>C (p.Leu4115=) c.12297G>C (p.Leu4099=) c.12285G>C (p.Leu4095=) c.12147G>C (p.Leu4049=) c.11994G>C (p.Leu3998=) | |
X | g.53537678C>T | CA516424054 | HUWE1 | c.11799G>A (p.Leu3933=) c.12015G>A (p.Leu4005=) c.2482G>A n.150G>A c.11988G>A (p.Leu3996=) c.12264G>A (p.Leu4088=) c.12261G>A (p.Leu4087=) c.12219G>A (p.Leu4073=) c.12216G>A (p.Leu4072=) c.12213G>A (p.Leu4071=) c.12165G>A (p.Leu4055=) c.11862G>A (p.Leu3954=) c.12396G>A (p.Leu4132=) c.12393G>A (p.Leu4131=) c.12375G>A (p.Leu4125=) c.12351G>A (p.Leu4117=) c.12348G>A (p.Leu4116=) c.12345G>A (p.Leu4115=) c.12297G>A (p.Leu4099=) c.12285G>A (p.Leu4095=) c.12147G>A (p.Leu4049=) c.11994G>A (p.Leu3998=) | gnomAD v4 COSMIC COSMIC |
X | g.53537679A>C | CA413156051 | HUWE1 | c.11798T>G (p.Leu3933Arg) c.12014T>G (p.Leu4005Arg) c.2481T>G n.149T>G c.11987T>G (p.Leu3996Arg) c.12263T>G (p.Leu4088Arg) c.12260T>G (p.Leu4087Arg) c.12218T>G (p.Leu4073Arg) c.12215T>G (p.Leu4072Arg) c.12212T>G (p.Leu4071Arg) c.12164T>G (p.Leu4055Arg) c.11861T>G (p.Leu3954Arg) c.12395T>G (p.Leu4132Arg) c.12392T>G (p.Leu4131Arg) c.12374T>G (p.Leu4125Arg) c.12350T>G (p.Leu4117Arg) c.12347T>G (p.Leu4116Arg) c.12344T>G (p.Leu4115Arg) c.12296T>G (p.Leu4099Arg) c.12284T>G (p.Leu4095Arg) c.12146T>G (p.Leu4049Arg) c.11993T>G (p.Leu3998Arg) | |
X | g.53537679A>G | CA413156068 | HUWE1 | c.11798T>C (p.Leu3933Pro) c.12014T>C (p.Leu4005Pro) c.2481T>C n.149T>C c.11987T>C (p.Leu3996Pro) c.12263T>C (p.Leu4088Pro) c.12260T>C (p.Leu4087Pro) c.12218T>C (p.Leu4073Pro) c.12215T>C (p.Leu4072Pro) c.12212T>C (p.Leu4071Pro) c.12164T>C (p.Leu4055Pro) c.11861T>C (p.Leu3954Pro) c.12395T>C (p.Leu4132Pro) c.12392T>C (p.Leu4131Pro) c.12374T>C (p.Leu4125Pro) c.12350T>C (p.Leu4117Pro) c.12347T>C (p.Leu4116Pro) c.12344T>C (p.Leu4115Pro) c.12296T>C (p.Leu4099Pro) c.12284T>C (p.Leu4095Pro) c.12146T>C (p.Leu4049Pro) c.11993T>C (p.Leu3998Pro) | |
X | g.53537679A>T | CA413156072 | HUWE1 | c.11798T>A (p.Leu3933Gln) c.12014T>A (p.Leu4005Gln) c.2481T>A n.149T>A c.11987T>A (p.Leu3996Gln) c.12263T>A (p.Leu4088Gln) c.12260T>A (p.Leu4087Gln) c.12218T>A (p.Leu4073Gln) c.12215T>A (p.Leu4072Gln) c.12212T>A (p.Leu4071Gln) c.12164T>A (p.Leu4055Gln) c.11861T>A (p.Leu3954Gln) c.12395T>A (p.Leu4132Gln) c.12392T>A (p.Leu4131Gln) c.12374T>A (p.Leu4125Gln) c.12350T>A (p.Leu4117Gln) c.12347T>A (p.Leu4116Gln) c.12344T>A (p.Leu4115Gln) c.12296T>A (p.Leu4099Gln) c.12284T>A (p.Leu4095Gln) c.12146T>A (p.Leu4049Gln) c.11993T>A (p.Leu3998Gln) | |
X | g.53537680G>A | CA516424067 | HUWE1 | c.11797C>T (p.Leu3933=) c.12013C>T (p.Leu4005=) c.2480C>T n.148C>T c.11986C>T (p.Leu3996=) c.12262C>T (p.Leu4088=) c.12259C>T (p.Leu4087=) c.12217C>T (p.Leu4073=) c.12214C>T (p.Leu4072=) c.12211C>T (p.Leu4071=) c.12163C>T (p.Leu4055=) c.11860C>T (p.Leu3954=) c.12394C>T (p.Leu4132=) c.12391C>T (p.Leu4131=) c.12373C>T (p.Leu4125=) c.12349C>T (p.Leu4117=) c.12346C>T (p.Leu4116=) c.12343C>T (p.Leu4115=) c.12295C>T (p.Leu4099=) c.12283C>T (p.Leu4095=) c.12145C>T (p.Leu4049=) c.11992C>T (p.Leu3998=) | |
X | g.53537680G>C | CA413156080 | HUWE1 | c.11797C>G (p.Leu3933Val) c.12013C>G (p.Leu4005Val) c.2480C>G n.148C>G c.11986C>G (p.Leu3996Val) c.12262C>G (p.Leu4088Val) c.12259C>G (p.Leu4087Val) c.12217C>G (p.Leu4073Val) c.12214C>G (p.Leu4072Val) c.12211C>G (p.Leu4071Val) c.12163C>G (p.Leu4055Val) c.11860C>G (p.Leu3954Val) c.12394C>G (p.Leu4132Val) c.12391C>G (p.Leu4131Val) c.12373C>G (p.Leu4125Val) c.12349C>G (p.Leu4117Val) c.12346C>G (p.Leu4116Val) c.12343C>G (p.Leu4115Val) c.12295C>G (p.Leu4099Val) c.12283C>G (p.Leu4095Val) c.12145C>G (p.Leu4049Val) c.11992C>G (p.Leu3998Val) | |
X | g.53537680G>T | CA413156083 | HUWE1 | c.11797C>A (p.Leu3933Met) c.12013C>A (p.Leu4005Met) c.2480C>A n.148C>A c.11986C>A (p.Leu3996Met) c.12262C>A (p.Leu4088Met) c.12259C>A (p.Leu4087Met) c.12217C>A (p.Leu4073Met) c.12214C>A (p.Leu4072Met) c.12211C>A (p.Leu4071Met) c.12163C>A (p.Leu4055Met) c.11860C>A (p.Leu3954Met) c.12394C>A (p.Leu4132Met) c.12391C>A (p.Leu4131Met) c.12373C>A (p.Leu4125Met) c.12349C>A (p.Leu4117Met) c.12346C>A (p.Leu4116Met) c.12343C>A (p.Leu4115Met) c.12295C>A (p.Leu4099Met) c.12283C>A (p.Leu4095Met) c.12145C>A (p.Leu4049Met) c.11992C>A (p.Leu3998Met) | |
X | g.53537681C>A | CA413156089 | HUWE1 | c.11796G>T (p.Glu3932Asp) c.12012G>T (p.Glu4004Asp) c.2479G>T n.147G>T c.11985G>T (p.Glu3995Asp) c.12261G>T (p.Glu4087Asp) c.12258G>T (p.Glu4086Asp) c.12216G>T (p.Glu4072Asp) c.12213G>T (p.Glu4071Asp) c.12210G>T (p.Glu4070Asp) c.12162G>T (p.Glu4054Asp) c.11859G>T (p.Glu3953Asp) c.12393G>T (p.Glu4131Asp) c.12390G>T (p.Glu4130Asp) c.12372G>T (p.Glu4124Asp) c.12348G>T (p.Glu4116Asp) c.12345G>T (p.Glu4115Asp) c.12342G>T (p.Glu4114Asp) c.12294G>T (p.Glu4098Asp) c.12282G>T (p.Glu4094Asp) c.12144G>T (p.Glu4048Asp) c.11991G>T (p.Glu3997Asp) | |
X | g.53537681C>G | CA413156095 | HUWE1 | c.11796G>C (p.Glu3932Asp) c.12012G>C (p.Glu4004Asp) c.2479G>C n.147G>C c.11985G>C (p.Glu3995Asp) c.12261G>C (p.Glu4087Asp) c.12258G>C (p.Glu4086Asp) c.12216G>C (p.Glu4072Asp) c.12213G>C (p.Glu4071Asp) c.12210G>C (p.Glu4070Asp) c.12162G>C (p.Glu4054Asp) c.11859G>C (p.Glu3953Asp) c.12393G>C (p.Glu4131Asp) c.12390G>C (p.Glu4130Asp) c.12372G>C (p.Glu4124Asp) c.12348G>C (p.Glu4116Asp) c.12345G>C (p.Glu4115Asp) c.12342G>C (p.Glu4114Asp) c.12294G>C (p.Glu4098Asp) c.12282G>C (p.Glu4094Asp) c.12144G>C (p.Glu4048Asp) c.11991G>C (p.Glu3997Asp) | |
X | g.53537681C>T | CA516424072 | HUWE1 | c.11796G>A (p.Glu3932=) c.12012G>A (p.Glu4004=) c.2479G>A n.147G>A c.11985G>A (p.Glu3995=) c.12261G>A (p.Glu4087=) c.12258G>A (p.Glu4086=) c.12216G>A (p.Glu4072=) c.12213G>A (p.Glu4071=) c.12210G>A (p.Glu4070=) c.12162G>A (p.Glu4054=) c.11859G>A (p.Glu3953=) c.12393G>A (p.Glu4131=) c.12390G>A (p.Glu4130=) c.12372G>A (p.Glu4124=) c.12348G>A (p.Glu4116=) c.12345G>A (p.Glu4115=) c.12342G>A (p.Glu4114=) c.12294G>A (p.Glu4098=) c.12282G>A (p.Glu4094=) c.12144G>A (p.Glu4048=) c.11991G>A (p.Glu3997=) | COSMIC COSMIC |
X | g.53537682T>A | CA413156103 | HUWE1 | c.11795A>T (p.Glu3932Val) c.12011A>T (p.Glu4004Val) c.2478A>T n.146A>T c.11984A>T (p.Glu3995Val) c.12260A>T (p.Glu4087Val) c.12257A>T (p.Glu4086Val) c.12215A>T (p.Glu4072Val) c.12212A>T (p.Glu4071Val) c.12209A>T (p.Glu4070Val) c.12161A>T (p.Glu4054Val) c.11858A>T (p.Glu3953Val) c.12392A>T (p.Glu4131Val) c.12389A>T (p.Glu4130Val) c.12371A>T (p.Glu4124Val) c.12347A>T (p.Glu4116Val) c.12344A>T (p.Glu4115Val) c.12341A>T (p.Glu4114Val) c.12293A>T (p.Glu4098Val) c.12281A>T (p.Glu4094Val) c.12143A>T (p.Glu4048Val) c.11990A>T (p.Glu3997Val) | |
X | g.53537682T>C | CA413156101 | HUWE1 | c.11795A>G (p.Glu3932Gly) c.12011A>G (p.Glu4004Gly) c.2478A>G n.146A>G c.11984A>G (p.Glu3995Gly) c.12260A>G (p.Glu4087Gly) c.12257A>G (p.Glu4086Gly) c.12215A>G (p.Glu4072Gly) c.12212A>G (p.Glu4071Gly) c.12209A>G (p.Glu4070Gly) c.12161A>G (p.Glu4054Gly) c.11858A>G (p.Glu3953Gly) c.12392A>G (p.Glu4131Gly) c.12389A>G (p.Glu4130Gly) c.12371A>G (p.Glu4124Gly) c.12347A>G (p.Glu4116Gly) c.12344A>G (p.Glu4115Gly) c.12341A>G (p.Glu4114Gly) c.12293A>G (p.Glu4098Gly) c.12281A>G (p.Glu4094Gly) c.12143A>G (p.Glu4048Gly) c.11990A>G (p.Glu3997Gly) | |
X | g.53537682T>G | CA413156099 | HUWE1 | c.11795A>C (p.Glu3932Ala) c.12011A>C (p.Glu4004Ala) c.2478A>C n.146A>C c.11984A>C (p.Glu3995Ala) c.12260A>C (p.Glu4087Ala) c.12257A>C (p.Glu4086Ala) c.12215A>C (p.Glu4072Ala) c.12212A>C (p.Glu4071Ala) c.12209A>C (p.Glu4070Ala) c.12161A>C (p.Glu4054Ala) c.11858A>C (p.Glu3953Ala) c.12392A>C (p.Glu4131Ala) c.12389A>C (p.Glu4130Ala) c.12371A>C (p.Glu4124Ala) c.12347A>C (p.Glu4116Ala) c.12344A>C (p.Glu4115Ala) c.12341A>C (p.Glu4114Ala) c.12293A>C (p.Glu4098Ala) c.12281A>C (p.Glu4094Ala) c.12143A>C (p.Glu4048Ala) c.11990A>C (p.Glu3997Ala) | |
X | g.53537683C>A | CA413156106 | HUWE1 | c.11794G>T (p.Glu3932Ter) c.12010G>T (p.Glu4004Ter) c.2477G>T n.145G>T c.11983G>T (p.Glu3995Ter) c.12259G>T (p.Glu4087Ter) c.12256G>T (p.Glu4086Ter) c.12214G>T (p.Glu4072Ter) c.12211G>T (p.Glu4071Ter) c.12208G>T (p.Glu4070Ter) c.12160G>T (p.Glu4054Ter) c.11857G>T (p.Glu3953Ter) c.12391G>T (p.Glu4131Ter) c.12388G>T (p.Glu4130Ter) c.12370G>T (p.Glu4124Ter) c.12346G>T (p.Glu4116Ter) c.12343G>T (p.Glu4115Ter) c.12340G>T (p.Glu4114Ter) c.12292G>T (p.Glu4098Ter) c.12280G>T (p.Glu4094Ter) c.12142G>T (p.Glu4048Ter) c.11989G>T (p.Glu3997Ter) | |
X | g.53537683C>G | CA413156111 | HUWE1 | c.11794G>C (p.Glu3932Gln) c.12010G>C (p.Glu4004Gln) c.2477G>C n.145G>C c.11983G>C (p.Glu3995Gln) c.12259G>C (p.Glu4087Gln) c.12256G>C (p.Glu4086Gln) c.12214G>C (p.Glu4072Gln) c.12211G>C (p.Glu4071Gln) c.12208G>C (p.Glu4070Gln) c.12160G>C (p.Glu4054Gln) c.11857G>C (p.Glu3953Gln) c.12391G>C (p.Glu4131Gln) c.12388G>C (p.Glu4130Gln) c.12370G>C (p.Glu4124Gln) c.12346G>C (p.Glu4116Gln) c.12343G>C (p.Glu4115Gln) c.12340G>C (p.Glu4114Gln) c.12292G>C (p.Glu4098Gln) c.12280G>C (p.Glu4094Gln) c.12142G>C (p.Glu4048Gln) c.11989G>C (p.Glu3997Gln) | |
X | g.53537683C>T | CA413156115 | HUWE1 | c.11794G>A (p.Glu3932Lys) c.12010G>A (p.Glu4004Lys) c.2477G>A n.145G>A c.11983G>A (p.Glu3995Lys) c.12259G>A (p.Glu4087Lys) c.12256G>A (p.Glu4086Lys) c.12214G>A (p.Glu4072Lys) c.12211G>A (p.Glu4071Lys) c.12208G>A (p.Glu4070Lys) c.12160G>A (p.Glu4054Lys) c.11857G>A (p.Glu3953Lys) c.12391G>A (p.Glu4131Lys) c.12388G>A (p.Glu4130Lys) c.12370G>A (p.Glu4124Lys) c.12346G>A (p.Glu4116Lys) c.12343G>A (p.Glu4115Lys) c.12340G>A (p.Glu4114Lys) c.12292G>A (p.Glu4098Lys) c.12280G>A (p.Glu4094Lys) c.12142G>A (p.Glu4048Lys) c.11989G>A (p.Glu3997Lys) | |
X | g.53537684T>A | CA413156122 | HUWE1 | c.11793A>T (p.Gln3931His) c.12009A>T (p.Gln4003His) c.2476A>T n.144A>T c.11982A>T (p.Gln3994His) c.12258A>T (p.Gln4086His) c.12255A>T (p.Gln4085His) c.12213A>T (p.Gln4071His) c.12210A>T (p.Gln4070His) c.12207A>T (p.Gln4069His) c.12159A>T (p.Gln4053His) c.11856A>T (p.Gln3952His) c.12390A>T (p.Gln4130His) c.12387A>T (p.Gln4129His) c.12369A>T (p.Gln4123His) c.12345A>T (p.Gln4115His) c.12342A>T (p.Gln4114His) c.12339A>T (p.Gln4113His) c.12291A>T (p.Gln4097His) c.12279A>T (p.Gln4093His) c.12141A>T (p.Gln4047His) c.11988A>T (p.Gln3996His) | |
X | g.53537684T>C | CA516424101 | HUWE1 | c.11793A>G (p.Gln3931=) c.12009A>G (p.Gln4003=) c.2476A>G n.144A>G c.11982A>G (p.Gln3994=) c.12258A>G (p.Gln4086=) c.12255A>G (p.Gln4085=) c.12213A>G (p.Gln4071=) c.12210A>G (p.Gln4070=) c.12207A>G (p.Gln4069=) c.12159A>G (p.Gln4053=) c.11856A>G (p.Gln3952=) c.12390A>G (p.Gln4130=) c.12387A>G (p.Gln4129=) c.12369A>G (p.Gln4123=) c.12345A>G (p.Gln4115=) c.12342A>G (p.Gln4114=) c.12339A>G (p.Gln4113=) c.12291A>G (p.Gln4097=) c.12279A>G (p.Gln4093=) c.12141A>G (p.Gln4047=) c.11988A>G (p.Gln3996=) | |
X | g.53537684T>G | CA413156123 | HUWE1 | c.11793A>C (p.Gln3931His) c.12009A>C (p.Gln4003His) c.2476A>C n.144A>C c.11982A>C (p.Gln3994His) c.12258A>C (p.Gln4086His) c.12255A>C (p.Gln4085His) c.12213A>C (p.Gln4071His) c.12210A>C (p.Gln4070His) c.12207A>C (p.Gln4069His) c.12159A>C (p.Gln4053His) c.11856A>C (p.Gln3952His) c.12390A>C (p.Gln4130His) c.12387A>C (p.Gln4129His) c.12369A>C (p.Gln4123His) c.12345A>C (p.Gln4115His) c.12342A>C (p.Gln4114His) c.12339A>C (p.Gln4113His) c.12291A>C (p.Gln4097His) c.12279A>C (p.Gln4093His) c.12141A>C (p.Gln4047His) c.11988A>C (p.Gln3996His) | |
X | g.53537685T>A | CA413156128 | HUWE1 | c.11792A>T (p.Gln3931Leu) c.12008A>T (p.Gln4003Leu) c.2475A>T n.143A>T c.11981A>T (p.Gln3994Leu) c.12257A>T (p.Gln4086Leu) c.12254A>T (p.Gln4085Leu) c.12212A>T (p.Gln4071Leu) c.12209A>T (p.Gln4070Leu) c.12206A>T (p.Gln4069Leu) c.12158A>T (p.Gln4053Leu) c.11855A>T (p.Gln3952Leu) c.12389A>T (p.Gln4130Leu) c.12386A>T (p.Gln4129Leu) c.12368A>T (p.Gln4123Leu) c.12344A>T (p.Gln4115Leu) c.12341A>T (p.Gln4114Leu) c.12338A>T (p.Gln4113Leu) c.12290A>T (p.Gln4097Leu) c.12278A>T (p.Gln4093Leu) c.12140A>T (p.Gln4047Leu) c.11987A>T (p.Gln3996Leu) | |
X | g.53537685T>C | CA413156137 | HUWE1 | c.11792A>G (p.Gln3931Arg) c.12008A>G (p.Gln4003Arg) c.2475A>G n.143A>G c.11981A>G (p.Gln3994Arg) c.12257A>G (p.Gln4086Arg) c.12254A>G (p.Gln4085Arg) c.12212A>G (p.Gln4071Arg) c.12209A>G (p.Gln4070Arg) c.12206A>G (p.Gln4069Arg) c.12158A>G (p.Gln4053Arg) c.11855A>G (p.Gln3952Arg) c.12389A>G (p.Gln4130Arg) c.12386A>G (p.Gln4129Arg) c.12368A>G (p.Gln4123Arg) c.12344A>G (p.Gln4115Arg) c.12341A>G (p.Gln4114Arg) c.12338A>G (p.Gln4113Arg) c.12290A>G (p.Gln4097Arg) c.12278A>G (p.Gln4093Arg) c.12140A>G (p.Gln4047Arg) c.11987A>G (p.Gln3996Arg) | |
X | g.53537685T>G | CA413156139 | HUWE1 | c.11792A>C (p.Gln3931Pro) c.12008A>C (p.Gln4003Pro) c.2475A>C n.143A>C c.11981A>C (p.Gln3994Pro) c.12257A>C (p.Gln4086Pro) c.12254A>C (p.Gln4085Pro) c.12212A>C (p.Gln4071Pro) c.12209A>C (p.Gln4070Pro) c.12206A>C (p.Gln4069Pro) c.12158A>C (p.Gln4053Pro) c.11855A>C (p.Gln3952Pro) c.12389A>C (p.Gln4130Pro) c.12386A>C (p.Gln4129Pro) c.12368A>C (p.Gln4123Pro) c.12344A>C (p.Gln4115Pro) c.12341A>C (p.Gln4114Pro) c.12338A>C (p.Gln4113Pro) c.12290A>C (p.Gln4097Pro) c.12278A>C (p.Gln4093Pro) c.12140A>C (p.Gln4047Pro) c.11987A>C (p.Gln3996Pro) | |
X | g.53537686G>A | CA413156147 | HUWE1 | c.11791C>T (p.Gln3931Ter) c.12007C>T (p.Gln4003Ter) c.2474C>T n.142C>T c.11980C>T (p.Gln3994Ter) c.12256C>T (p.Gln4086Ter) c.12253C>T (p.Gln4085Ter) c.12211C>T (p.Gln4071Ter) c.12208C>T (p.Gln4070Ter) c.12205C>T (p.Gln4069Ter) c.12157C>T (p.Gln4053Ter) c.11854C>T (p.Gln3952Ter) c.12388C>T (p.Gln4130Ter) c.12385C>T (p.Gln4129Ter) c.12367C>T (p.Gln4123Ter) c.12343C>T (p.Gln4115Ter) c.12340C>T (p.Gln4114Ter) c.12337C>T (p.Gln4113Ter) c.12289C>T (p.Gln4097Ter) c.12277C>T (p.Gln4093Ter) c.12139C>T (p.Gln4047Ter) c.11986C>T (p.Gln3996Ter) | |
X | g.53537686G>C | CA413156151 | HUWE1 | c.11791C>G (p.Gln3931Glu) c.12007C>G (p.Gln4003Glu) c.2474C>G n.142C>G c.11980C>G (p.Gln3994Glu) c.12256C>G (p.Gln4086Glu) c.12253C>G (p.Gln4085Glu) c.12211C>G (p.Gln4071Glu) c.12208C>G (p.Gln4070Glu) c.12205C>G (p.Gln4069Glu) c.12157C>G (p.Gln4053Glu) c.11854C>G (p.Gln3952Glu) c.12388C>G (p.Gln4130Glu) c.12385C>G (p.Gln4129Glu) c.12367C>G (p.Gln4123Glu) c.12343C>G (p.Gln4115Glu) c.12340C>G (p.Gln4114Glu) c.12337C>G (p.Gln4113Glu) c.12289C>G (p.Gln4097Glu) c.12277C>G (p.Gln4093Glu) c.12139C>G (p.Gln4047Glu) c.11986C>G (p.Gln3996Glu) | |
X | g.53537686G>T | CA413156153 | HUWE1 | c.11791C>A (p.Gln3931Lys) c.12007C>A (p.Gln4003Lys) c.2474C>A n.142C>A c.11980C>A (p.Gln3994Lys) c.12256C>A (p.Gln4086Lys) c.12253C>A (p.Gln4085Lys) c.12211C>A (p.Gln4071Lys) c.12208C>A (p.Gln4070Lys) c.12205C>A (p.Gln4069Lys) c.12157C>A (p.Gln4053Lys) c.11854C>A (p.Gln3952Lys) c.12388C>A (p.Gln4130Lys) c.12385C>A (p.Gln4129Lys) c.12367C>A (p.Gln4123Lys) c.12343C>A (p.Gln4115Lys) c.12340C>A (p.Gln4114Lys) c.12337C>A (p.Gln4113Lys) c.12289C>A (p.Gln4097Lys) c.12277C>A (p.Gln4093Lys) c.12139C>A (p.Gln4047Lys) c.11986C>A (p.Gln3996Lys) | |
X | g.53537687del | CA2510281335 | HUWE1 | c.11791del (p.Gln3931LysfsTer6) c.12007del (p.Gln4003LysfsTer6) c.2474del n.142del c.11980del (p.Gln3994LysfsTer6) c.12256del (p.Gln4086LysfsTer6) c.12253del (p.Gln4085LysfsTer6) c.12211del (p.Gln4071LysfsTer6) c.12208del (p.Gln4070LysfsTer6) c.12205del (p.Gln4069LysfsTer6) c.12157del (p.Gln4053LysfsTer6) c.11854del (p.Gln3952LysfsTer6) c.12388del (p.Gln4130LysfsTer6) c.12385del (p.Gln4129LysfsTer6) c.12367del (p.Gln4123LysfsTer6) c.12343del (p.Gln4115LysfsTer6) c.12340del (p.Gln4114LysfsTer6) c.12337del (p.Gln4113LysfsTer6) c.12289del (p.Gln4097LysfsTer6) c.12277del (p.Gln4093LysfsTer6) c.12139del (p.Gln4047LysfsTer6) c.11986del (p.Gln3996LysfsTer6) | |
X | g.53537687G>A | CA516424111 | HUWE1 | c.11790C>T (p.Arg3930=) c.12006C>T (p.Arg4002=) c.2473C>T n.141C>T c.11979C>T (p.Arg3993=) c.12255C>T (p.Arg4085=) c.12252C>T (p.Arg4084=) c.12210C>T (p.Arg4070=) c.12207C>T (p.Arg4069=) c.12204C>T (p.Arg4068=) c.12156C>T (p.Arg4052=) c.11853C>T (p.Arg3951=) c.12387C>T (p.Arg4129=) c.12384C>T (p.Arg4128=) c.12366C>T (p.Arg4122=) c.12342C>T (p.Arg4114=) c.12339C>T (p.Arg4113=) c.12336C>T (p.Arg4112=) c.12288C>T (p.Arg4096=) c.12276C>T (p.Arg4092=) c.12138C>T (p.Arg4046=) c.11985C>T (p.Arg3995=) | COSMIC COSMIC |
X | g.53537687G>C | CA516424116 | HUWE1 | c.11790C>G (p.Arg3930=) c.12006C>G (p.Arg4002=) c.2473C>G n.141C>G c.11979C>G (p.Arg3993=) c.12255C>G (p.Arg4085=) c.12252C>G (p.Arg4084=) c.12210C>G (p.Arg4070=) c.12207C>G (p.Arg4069=) c.12204C>G (p.Arg4068=) c.12156C>G (p.Arg4052=) c.11853C>G (p.Arg3951=) c.12387C>G (p.Arg4129=) c.12384C>G (p.Arg4128=) c.12366C>G (p.Arg4122=) c.12342C>G (p.Arg4114=) c.12339C>G (p.Arg4113=) c.12336C>G (p.Arg4112=) c.12288C>G (p.Arg4096=) c.12276C>G (p.Arg4092=) c.12138C>G (p.Arg4046=) c.11985C>G (p.Arg3995=) | |
X | g.53537687G>T | CA516424113 | HUWE1 | c.11790C>A (p.Arg3930=) c.12006C>A (p.Arg4002=) c.2473C>A n.141C>A c.11979C>A (p.Arg3993=) c.12255C>A (p.Arg4085=) c.12252C>A (p.Arg4084=) c.12210C>A (p.Arg4070=) c.12207C>A (p.Arg4069=) c.12204C>A (p.Arg4068=) c.12156C>A (p.Arg4052=) c.11853C>A (p.Arg3951=) c.12387C>A (p.Arg4129=) c.12384C>A (p.Arg4128=) c.12366C>A (p.Arg4122=) c.12342C>A (p.Arg4114=) c.12339C>A (p.Arg4113=) c.12336C>A (p.Arg4112=) c.12288C>A (p.Arg4096=) c.12276C>A (p.Arg4092=) c.12138C>A (p.Arg4046=) c.11985C>A (p.Arg3995=) | |
X | g.53537688C>A | CA413156171 | HUWE1 | c.11789G>T (p.Arg3930Leu) c.12005G>T (p.Arg4002Leu) c.2472G>T n.140G>T c.11978G>T (p.Arg3993Leu) c.12254G>T (p.Arg4085Leu) c.12251G>T (p.Arg4084Leu) c.12209G>T (p.Arg4070Leu) c.12206G>T (p.Arg4069Leu) c.12203G>T (p.Arg4068Leu) c.12155G>T (p.Arg4052Leu) c.11852G>T (p.Arg3951Leu) c.12386G>T (p.Arg4129Leu) c.12383G>T (p.Arg4128Leu) c.12365G>T (p.Arg4122Leu) c.12341G>T (p.Arg4114Leu) c.12338G>T (p.Arg4113Leu) c.12335G>T (p.Arg4112Leu) c.12287G>T (p.Arg4096Leu) c.12275G>T (p.Arg4092Leu) c.12137G>T (p.Arg4046Leu) c.11984G>T (p.Arg3995Leu) | |
X | g.53537688C= | CA2429870472 | HUWE1 | c.11789G= (p.Arg3930=) c.12005G= (p.Arg4002=) c.2472G= n.140G= c.11978G= (p.Arg3993=) c.12254G= (p.Arg4085=) c.12251G= (p.Arg4084=) c.12209G= (p.Arg4070=) c.12206G= (p.Arg4069=) c.12203G= (p.Arg4068=) c.12155G= (p.Arg4052=) c.11852G= (p.Arg3951=) c.12386G= (p.Arg4129=) c.12383G= (p.Arg4128=) c.12365G= (p.Arg4122=) c.12341G= (p.Arg4114=) c.12338G= (p.Arg4113=) c.12335G= (p.Arg4112=) c.12287G= (p.Arg4096=) c.12275G= (p.Arg4092=) c.12137G= (p.Arg4046=) c.11984G= (p.Arg3995=) | |
X | g.53537688C>G | CA413156164 | HUWE1 | c.11789G>C (p.Arg3930Pro) c.12005G>C (p.Arg4002Pro) c.2472G>C n.140G>C c.11978G>C (p.Arg3993Pro) c.12254G>C (p.Arg4085Pro) c.12251G>C (p.Arg4084Pro) c.12209G>C (p.Arg4070Pro) c.12206G>C (p.Arg4069Pro) c.12203G>C (p.Arg4068Pro) c.12155G>C (p.Arg4052Pro) c.11852G>C (p.Arg3951Pro) c.12386G>C (p.Arg4129Pro) c.12383G>C (p.Arg4128Pro) c.12365G>C (p.Arg4122Pro) c.12341G>C (p.Arg4114Pro) c.12338G>C (p.Arg4113Pro) c.12335G>C (p.Arg4112Pro) c.12287G>C (p.Arg4096Pro) c.12275G>C (p.Arg4092Pro) c.12137G>C (p.Arg4046Pro) c.11984G>C (p.Arg3995Pro) | |
X | g.53537688C>T | CA10421285 | HUWE1 | c.11789G>A (p.Arg3930His) c.12005G>A (p.Arg4002His) c.2472G>A n.140G>A c.11978G>A (p.Arg3993His) c.12254G>A (p.Arg4085His) c.12251G>A (p.Arg4084His) c.12209G>A (p.Arg4070His) c.12206G>A (p.Arg4069His) c.12203G>A (p.Arg4068His) c.12155G>A (p.Arg4052His) c.11852G>A (p.Arg3951His) c.12386G>A (p.Arg4129His) c.12383G>A (p.Arg4128His) c.12365G>A (p.Arg4122His) c.12341G>A (p.Arg4114His) c.12338G>A (p.Arg4113His) c.12335G>A (p.Arg4112His) c.12287G>A (p.Arg4096His) c.12275G>A (p.Arg4092His) c.12137G>A (p.Arg4046His) c.11984G>A (p.Arg3995His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.53537689G>A | CA413156181 | HUWE1 | c.11788C>T (p.Arg3930Cys) c.12004C>T (p.Arg4002Cys) c.2471C>T n.139C>T c.11977C>T (p.Arg3993Cys) c.12253C>T (p.Arg4085Cys) c.12250C>T (p.Arg4084Cys) c.12208C>T (p.Arg4070Cys) c.12205C>T (p.Arg4069Cys) c.12202C>T (p.Arg4068Cys) c.12154C>T (p.Arg4052Cys) c.11851C>T (p.Arg3951Cys) c.12385C>T (p.Arg4129Cys) c.12382C>T (p.Arg4128Cys) c.12364C>T (p.Arg4122Cys) c.12340C>T (p.Arg4114Cys) c.12337C>T (p.Arg4113Cys) c.12334C>T (p.Arg4112Cys) c.12286C>T (p.Arg4096Cys) c.12274C>T (p.Arg4092Cys) c.12136C>T (p.Arg4046Cys) c.11983C>T (p.Arg3995Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.53537689G>C | CA413156185 | HUWE1 | c.11788C>G (p.Arg3930Gly) c.12004C>G (p.Arg4002Gly) c.2471C>G n.139C>G c.11977C>G (p.Arg3993Gly) c.12253C>G (p.Arg4085Gly) c.12250C>G (p.Arg4084Gly) c.12208C>G (p.Arg4070Gly) c.12205C>G (p.Arg4069Gly) c.12202C>G (p.Arg4068Gly) c.12154C>G (p.Arg4052Gly) c.11851C>G (p.Arg3951Gly) c.12385C>G (p.Arg4129Gly) c.12382C>G (p.Arg4128Gly) c.12364C>G (p.Arg4122Gly) c.12340C>G (p.Arg4114Gly) c.12337C>G (p.Arg4113Gly) c.12334C>G (p.Arg4112Gly) c.12286C>G (p.Arg4096Gly) c.12274C>G (p.Arg4092Gly) c.12136C>G (p.Arg4046Gly) c.11983C>G (p.Arg3995Gly) | |
X | g.53537689G= | CA2429870473 | HUWE1 | c.11788C= (p.Arg3930=) c.12004C= (p.Arg4002=) c.2471C= n.139C= c.11977C= (p.Arg3993=) c.12253C= (p.Arg4085=) c.12250C= (p.Arg4084=) c.12208C= (p.Arg4070=) c.12205C= (p.Arg4069=) c.12202C= (p.Arg4068=) c.12154C= (p.Arg4052=) c.11851C= (p.Arg3951=) c.12385C= (p.Arg4129=) c.12382C= (p.Arg4128=) c.12364C= (p.Arg4122=) c.12340C= (p.Arg4114=) c.12337C= (p.Arg4113=) c.12334C= (p.Arg4112=) c.12286C= (p.Arg4096=) c.12274C= (p.Arg4092=) c.12136C= (p.Arg4046=) c.11983C= (p.Arg3995=) | |
X | g.53537689G>T | CA413156191 | HUWE1 | c.11788C>A (p.Arg3930Ser) c.12004C>A (p.Arg4002Ser) c.2471C>A n.139C>A c.11977C>A (p.Arg3993Ser) c.12253C>A (p.Arg4085Ser) c.12250C>A (p.Arg4084Ser) c.12208C>A (p.Arg4070Ser) c.12205C>A (p.Arg4069Ser) c.12202C>A (p.Arg4068Ser) c.12154C>A (p.Arg4052Ser) c.11851C>A (p.Arg3951Ser) c.12385C>A (p.Arg4129Ser) c.12382C>A (p.Arg4128Ser) c.12364C>A (p.Arg4122Ser) c.12340C>A (p.Arg4114Ser) c.12337C>A (p.Arg4113Ser) c.12334C>A (p.Arg4112Ser) c.12286C>A (p.Arg4096Ser) c.12274C>A (p.Arg4092Ser) c.12136C>A (p.Arg4046Ser) c.11983C>A (p.Arg3995Ser) |