| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.46725964del | CA2574810795 | F2 | c.665del (p.Gln222ArgfsTer6) c.635del (p.Gln212ArgfsTer6) n.445del c.617del (p.Gln206ArgfsTer6) n.709del n.700del | |
| 11 | g.46725964A>C | CA380264963 | F2 | c.665A>C (p.Gln222Pro) c.635A>C (p.Gln212Pro) n.445A>C c.617A>C (p.Gln206Pro) n.709A>C n.700A>C | |
| 11 | g.46725964A>G | CA380264964 | F2 | c.665A>G (p.Gln222Arg) c.635A>G (p.Gln212Arg) n.445A>G c.617A>G (p.Gln206Arg) n.709A>G n.700A>G | |
| 11 | g.46725964A>T | CA380264965 | F2 | c.665A>T (p.Gln222Leu) c.635A>T (p.Gln212Leu) n.445A>T c.617A>T (p.Gln206Leu) n.709A>T n.700A>T | |
| 11 | g.46725965G>A | CA474043646 | F2 | c.666G>A (p.Gln222=) c.636G>A (p.Gln212=) n.446G>A c.618G>A (p.Gln206=) n.710G>A n.701G>A | |
| 11 | g.46725965G>C | CA380264967 | F2 | c.666G>C (p.Gln222His) c.636G>C (p.Gln212His) n.446G>C c.618G>C (p.Gln206His) n.710G>C n.701G>C | |
| 11 | g.46725965G>T | CA380264969 | F2 | c.666G>T (p.Gln222His) c.636G>T (p.Gln212His) n.446G>T c.618G>T (p.Gln206His) n.710G>T n.701G>T | |
| 11 | g.46725966G>A | CA380264971 | F2 | c.667G>A (p.Gly223Arg) c.637G>A (p.Gly213Arg) n.447G>A c.619G>A (p.Gly207Arg) n.711G>A n.702G>A | |
| 11 | g.46725966G>C | CA380264972 | F2 | c.667G>C (p.Gly223Arg) c.637G>C (p.Gly213Arg) n.447G>C c.619G>C (p.Gly207Arg) n.711G>C n.702G>C | |
| 11 | g.46725966G>T | CA380264973 | F2 | c.667G>T (p.Gly223Trp) c.637G>T (p.Gly213Trp) n.447G>T c.619G>T (p.Gly207Trp) n.711G>T n.702G>T | |
| 11 | g.46725967G>A | CA380264974 | F2 | c.668G>A (p.Gly223Glu) c.638G>A (p.Gly213Glu) n.448G>A c.620G>A (p.Gly207Glu) n.712G>A n.703G>A | |
| 11 | g.46725967G>C | CA380264975 | F2 | c.668G>C (p.Gly223Ala) c.638G>C (p.Gly213Ala) n.448G>C c.620G>C (p.Gly207Ala) n.712G>C n.703G>C | |
| 11 | g.46725967G>T | CA380264977 | F2 | c.668G>T (p.Gly223Val) c.638G>T (p.Gly213Val) n.448G>T c.620G>T (p.Gly207Val) n.712G>T n.703G>T | |
| 11 | g.46725968G>A | CA221652005 | F2 | c.669G>A (p.Gly223=) c.639G>A (p.Gly213=) n.449G>A c.621G>A (p.Gly207=) n.713G>A n.704G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46725968G>C | CA474043655 | F2 | c.669G>C (p.Gly223=) c.639G>C (p.Gly213=) n.449G>C c.621G>C (p.Gly207=) n.713G>C n.704G>C | |
| 11 | g.46725968G= | CA1969072077 | F2 | c.669G= (p.Gly223=) c.639G= (p.Gly213=) n.449G= c.621G= (p.Gly207=) n.713G= n.704G= | |
| 11 | g.46725968G>T | CA474043653 | F2 | c.669G>T (p.Gly223=) c.639G>T (p.Gly213=) n.449G>T c.621G>T (p.Gly207=) n.713G>T n.704G>T | |
| 11 | g.46725969C>A | CA380264979 | F2 | c.670C>A (p.Arg224Ser) c.640C>A (p.Arg214Ser) n.450C>A c.622C>A (p.Arg208Ser) n.714C>A n.705C>A | gnomAD v4 |
| 11 | g.46725969C= | CA1969072081 | F2 | c.670C= (p.Arg224=) c.640C= (p.Arg214=) n.450C= c.622C= (p.Arg208=) n.714C= n.705C= | |
| 11 | g.46725969C>G | CA380264981 | F2 | c.670C>G (p.Arg224Gly) c.640C>G (p.Arg214Gly) n.450C>G c.622C>G (p.Arg208Gly) n.714C>G n.705C>G | dbSNP |
| 11 | g.46725969C>T | CA5967033 | F2 | c.670C>T (p.Arg224Cys) c.640C>T (p.Arg214Cys) n.450C>T c.622C>T (p.Arg208Cys) n.714C>T n.705C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46725970G>A | CA5967034 | F2 | c.671G>A (p.Arg224His) c.641G>A (p.Arg214His) n.451G>A c.623G>A (p.Arg208His) n.715G>A n.706G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46725970G>C | CA380264983 | F2 | c.671G>C (p.Arg224Pro) c.641G>C (p.Arg214Pro) n.451G>C c.623G>C (p.Arg208Pro) n.715G>C n.706G>C | |
| 11 | g.46725970G= | CA1969072086 | F2 | c.671G= (p.Arg224=) c.641G= (p.Arg214=) n.451G= c.623G= (p.Arg208=) n.715G= n.706G= | |
| 11 | g.46725970G>T | CA380264985 | F2 | c.671G>T (p.Arg224Leu) c.641G>T (p.Arg214Leu) n.451G>T c.623G>T (p.Arg208Leu) n.715G>T n.706G>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.46725971C>A | CA474043659 | F2 | c.672C>A (p.Arg224=) c.642C>A (p.Arg214=) n.452C>A c.624C>A (p.Arg208=) n.716C>A n.707C>A | |
| 11 | g.46725971C= | CA1969072092 | F2 | c.672C= (p.Arg224=) c.642C= (p.Arg214=) n.452C= c.624C= (p.Arg208=) n.716C= n.707C= | |
| 11 | g.46725971C>G | CA474043660 | F2 | c.672C>G (p.Arg224=) c.642C>G (p.Arg214=) n.452C>G c.624C>G (p.Arg208=) n.716C>G n.707C>G | |
| 11 | g.46725971C>T | CA5967035 | F2 | c.672C>T (p.Arg224=) c.642C>T (p.Arg214=) n.452C>T c.624C>T (p.Arg208=) n.716C>T n.707C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46725972C>A | CA380264989 | F2 | c.673C>A (p.Leu225Met) c.643C>A (p.Leu215Met) n.453C>A c.625C>A (p.Leu209Met) n.717C>A n.708C>A | |
| 11 | g.46725972C>G | CA380264988 | F2 | c.673C>G (p.Leu225Val) c.643C>G (p.Leu215Val) n.453C>G c.625C>G (p.Leu209Val) n.717C>G n.708C>G | |
| 11 | g.46725972C>T | CA474043663 | F2 | c.673C>T (p.Leu225=) c.643C>T (p.Leu215=) n.453C>T c.625C>T (p.Leu209=) n.717C>T n.708C>T | |
| 11 | g.46725973T>A | CA380264991 | F2 | c.674T>A (p.Leu225Gln) c.644T>A (p.Leu215Gln) n.454T>A c.626T>A (p.Leu209Gln) n.718T>A n.709T>A | |
| 11 | g.46725973T>C | CA380264993 | F2 | c.674T>C (p.Leu225Pro) c.644T>C (p.Leu215Pro) n.454T>C c.626T>C (p.Leu209Pro) n.718T>C n.709T>C | |
| 11 | g.46725973T>G | CA380264995 | F2 | c.674T>G (p.Leu225Arg) c.644T>G (p.Leu215Arg) n.454T>G c.626T>G (p.Leu209Arg) n.718T>G n.709T>G | |
| 11 | g.46725974G>A | CA474043664 | F2 | c.675G>A (p.Leu225=) c.645G>A (p.Leu215=) n.455G>A c.627G>A (p.Leu209=) n.719G>A n.710G>A | |
| 11 | g.46725974G>C | CA5967036 | F2 | c.675G>C (p.Leu225=) c.645G>C (p.Leu215=) n.455G>C c.627G>C (p.Leu209=) n.719G>C n.710G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.46725974G= | CA1969072094 | F2 | c.675G= (p.Leu225=) c.645G= (p.Leu215=) n.455G= c.627G= (p.Leu209=) n.719G= n.710G= | |
| 11 | g.46725974G>T | CA474043668 | F2 | c.675G>T (p.Leu225=) c.645G>T (p.Leu215=) n.455G>T c.627G>T (p.Leu209=) n.719G>T n.710G>T | |
| 11 | g.46725975G>A | CA380264996 | F2 | c.676G>A (p.Ala226Thr) c.646G>A (p.Ala216Thr) n.456G>A c.628G>A (p.Ala210Thr) n.720G>A n.711G>A | dbSNP |
| 11 | g.46725975G>C | CA380264997 | F2 | c.676G>C (p.Ala226Pro) c.646G>C (p.Ala216Pro) n.456G>C c.628G>C (p.Ala210Pro) n.720G>C n.711G>C | |
| 11 | g.46725975G= | CA1969072100 | F2 | c.676G= (p.Ala226=) c.646G= (p.Ala216=) n.456G= c.628G= (p.Ala210=) n.720G= n.711G= | |
| 11 | g.46725975G>T | CA380264998 | F2 | c.676G>T (p.Ala226Ser) c.646G>T (p.Ala216Ser) n.456G>T c.628G>T (p.Ala210Ser) n.720G>T n.711G>T | |
| 11 | g.46725976C>A | CA380264999 | F2 | c.677C>A (p.Ala226Glu) c.647C>A (p.Ala216Glu) n.457C>A c.629C>A (p.Ala210Glu) n.721C>A n.712C>A | |
| 11 | g.46725976C= | CA1969072103 | F2 | c.677C= (p.Ala226=) c.647C= (p.Ala216=) n.457C= c.629C= (p.Ala210=) n.721C= n.712C= | |
| 11 | g.46725976C>G | CA380265000 | F2 | c.677C>G (p.Ala226Gly) c.647C>G (p.Ala216Gly) n.457C>G c.629C>G (p.Ala210Gly) n.721C>G n.712C>G | |
| 11 | g.46725976C>T | CA380265001 | F2 | c.677C>T (p.Ala226Val) c.647C>T (p.Ala216Val) n.457C>T c.629C>T (p.Ala210Val) n.721C>T n.712C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.46725977G>A | CA5967037 | F2 | c.678G>A (p.Ala226=) c.648G>A (p.Ala216=) n.458G>A c.630G>A (p.Ala210=) n.722G>A n.713G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46725977G>C | CA474043674 | F2 | c.678G>C (p.Ala226=) c.648G>C (p.Ala216=) n.458G>C c.630G>C (p.Ala210=) n.722G>C n.713G>C | |
| 11 | g.46725977G= | CA1969072106 | F2 | c.678G= (p.Ala226=) c.648G= (p.Ala216=) n.458G= c.630G= (p.Ala210=) n.722G= n.713G= | |
| 11 | g.46725977G>T | CA474043673 | F2 | c.678G>T (p.Ala226=) c.648G>T (p.Ala216=) n.458G>T c.630G>T (p.Ala210=) n.722G>T n.713G>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.46725978G>A | CA380265004 | F2 | c.679G>A (p.Val227Met) c.649G>A (p.Val217Met) n.459G>A c.631G>A (p.Val211Met) n.723G>A n.714G>A | gnomAD v4 |
| 11 | g.46725978G>C | CA380265006 | F2 | c.679G>C (p.Val227Leu) c.649G>C (p.Val217Leu) n.459G>C c.631G>C (p.Val211Leu) n.723G>C n.714G>C | |
| 11 | g.46725978G>T | CA380265007 | F2 | c.679G>T (p.Val227Leu) c.649G>T (p.Val217Leu) n.459G>T c.631G>T (p.Val211Leu) n.723G>T n.714G>T | |
| 11 | g.46725979T>A | CA380265012 | F2 | c.680T>A (p.Val227Glu) c.650T>A (p.Val217Glu) n.460T>A c.632T>A (p.Val211Glu) n.724T>A n.715T>A | gnomAD v4 |
| 11 | g.46725979T>C | CA5967038 | F2 | c.680T>C (p.Val227Ala) c.650T>C (p.Val217Ala) n.460T>C c.632T>C (p.Val211Ala) n.724T>C n.715T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.46725979T>G | CA380265009 | F2 | c.680T>G (p.Val227Gly) c.650T>G (p.Val217Gly) n.460T>G c.632T>G (p.Val211Gly) n.724T>G n.715T>G | |
| 11 | g.46725979T= | CA1969072109 | F2 | c.680T= (p.Val227=) c.650T= (p.Val217=) n.460T= c.632T= (p.Val211=) n.724T= n.715T= | |
| 11 | g.46725980G>A | CA474043679 | F2 | c.681G>A (p.Val227=) c.651G>A (p.Val217=) n.461G>A c.633G>A (p.Val211=) n.725G>A n.716G>A | |
| 11 | g.46725980G>C | CA474043680 | F2 | c.681G>C (p.Val227=) c.651G>C (p.Val217=) n.461G>C c.633G>C (p.Val211=) n.725G>C n.716G>C | |
| 11 | g.46725980G= | CA1969072112 | F2 | c.681G= (p.Val227=) c.651G= (p.Val217=) n.461G= c.633G= (p.Val211=) n.725G= n.716G= | |
| 11 | g.46725980G>T | CA5967039 | F2 | c.681G>T (p.Val227=) c.651G>T (p.Val217=) n.461G>T c.633G>T (p.Val211=) n.725G>T n.716G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.46725981A>C | CA380265014 | F2 | c.682A>C (p.Thr228Pro) c.652A>C (p.Thr218Pro) n.462A>C c.634A>C (p.Thr212Pro) n.726A>C n.717A>C | |
| 11 | g.46725981A>G | CA380265017 | F2 | c.682A>G (p.Thr228Ala) c.652A>G (p.Thr218Ala) n.462A>G c.634A>G (p.Thr212Ala) n.726A>G n.717A>G | |
| 11 | g.46725981A>T | CA380265016 | F2 | c.682A>T (p.Thr228Ser) c.652A>T (p.Thr218Ser) n.462A>T c.634A>T (p.Thr212Ser) n.726A>T n.717A>T | |
| 11 | g.46725982C>A | CA380265019 | F2 | c.683C>A (p.Thr228Asn) c.653C>A (p.Thr218Asn) n.463C>A c.635C>A (p.Thr212Asn) n.727C>A n.718C>A | |
| 11 | g.46725982C= | CA1969072116 | F2 | c.683C= (p.Thr228=) c.653C= (p.Thr218=) n.463C= c.635C= (p.Thr212=) n.727C= n.718C= | |
| 11 | g.46725982C>G | CA380265022 | F2 | c.683C>G (p.Thr228Ser) c.653C>G (p.Thr218Ser) n.463C>G c.635C>G (p.Thr212Ser) n.727C>G n.718C>G | gnomAD v4 |
| 11 | g.46725982C>T | CA380265020 | F2 | c.683C>T (p.Thr228Ile) c.653C>T (p.Thr218Ile) n.463C>T c.635C>T (p.Thr212Ile) n.727C>T n.718C>T | dbSNP gnomAD v2 |
| 11 | g.46725983C>A | CA474043689 | F2 | c.684C>A (p.Thr228=) c.654C>A (p.Thr218=) n.464C>A c.636C>A (p.Thr212=) n.728C>A n.719C>A | |
| 11 | g.46725983C>G | CA474043690 | F2 | c.684C>G (p.Thr228=) c.654C>G (p.Thr218=) n.464C>G c.636C>G (p.Thr212=) n.728C>G n.719C>G | |
| 11 | g.46725983C>T | CA474043692 | F2 | c.684C>T (p.Thr228=) c.654C>T (p.Thr218=) n.464C>T c.636C>T (p.Thr212=) n.728C>T n.719C>T | COSMIC |
| 11 | g.46725984A>C | CA380265023 | F2 | c.685A>C (p.Thr229Pro) c.655A>C (p.Thr219Pro) n.465A>C c.637A>C (p.Thr213Pro) n.729A>C n.720A>C | |
| 11 | g.46725984A>G | CA380265024 | F2 | c.685A>G (p.Thr229Ala) c.655A>G (p.Thr219Ala) n.465A>G c.637A>G (p.Thr213Ala) n.729A>G n.720A>G | |
| 11 | g.46725984A>T | CA380265026 | F2 | c.685A>T (p.Thr229Ser) c.655A>T (p.Thr219Ser) n.465A>T c.637A>T (p.Thr213Ser) n.729A>T n.720A>T | |
| 11 | g.46725985C>A | CA380265027 | F2 | c.686C>A (p.Thr229Lys) c.656C>A (p.Thr219Lys) n.466C>A c.638C>A (p.Thr213Lys) n.730C>A n.721C>A | |
| 11 | g.46725985C>G | CA380265029 | F2 | c.686C>G (p.Thr229Arg) c.656C>G (p.Thr219Arg) n.466C>G c.638C>G (p.Thr213Arg) n.730C>G n.721C>G | |
| 11 | g.46725985C>T | CA380265031 | F2 | c.686C>T (p.Thr229Ile) c.656C>T (p.Thr219Ile) n.466C>T c.638C>T (p.Thr213Ile) n.730C>T n.721C>T | |
| 11 | g.46725986A>C | CA474043696 | F2 | c.687A>C (p.Thr229=) c.657A>C (p.Thr219=) n.467A>C c.639A>C (p.Thr213=) n.731A>C n.722A>C | |
| 11 | g.46725986A>G | CA474043697 | F2 | c.687A>G (p.Thr229=) c.657A>G (p.Thr219=) n.467A>G c.639A>G (p.Thr213=) n.731A>G n.722A>G | |
| 11 | g.46725986A>T | CA474043698 | F2 | c.687A>T (p.Thr229=) c.657A>T (p.Thr219=) n.467A>T c.639A>T (p.Thr213=) n.731A>T n.722A>T | |
| 11 | g.46725987C>A | CA380265033 | F2 | c.688C>A (p.His230Asn) c.658C>A (p.His220Asn) n.468C>A c.640C>A (p.His214Asn) n.732C>A n.723C>A | |
| 11 | g.46725987C>G | CA380265034 | F2 | c.688C>G (p.His230Asp) c.658C>G (p.His220Asp) n.468C>G c.640C>G (p.His214Asp) n.732C>G n.723C>G | |
| 11 | g.46725987C>T | CA380265037 | F2 | c.688C>T (p.His230Tyr) c.658C>T (p.His220Tyr) n.468C>T c.640C>T (p.His214Tyr) n.732C>T n.723C>T | |
| 11 | g.46725988A>C | CA380265042 | F2 | c.689A>C (p.His230Pro) c.659A>C (p.His220Pro) n.469A>C c.641A>C (p.His214Pro) n.733A>C n.724A>C | |
| 11 | g.46725988A>G | CA380265041 | F2 | c.689A>G (p.His230Arg) c.659A>G (p.His220Arg) n.469A>G c.641A>G (p.His214Arg) n.733A>G n.724A>G | ClinVar gnomAD v4 |
| 11 | g.46725988A>T | CA380265038 | F2 | c.689A>T (p.His230Leu) c.659A>T (p.His220Leu) n.469A>T c.641A>T (p.His214Leu) n.733A>T n.724A>T | |
| 11 | g.46725988_46725990del | CA2613334506 | F2 | c.689_691del (p.His230_Gly231delinsArg) c.659_661del (p.His220_Gly221delinsArg) n.469_471del c.641_643del (p.His214_Gly215delinsArg) n.733_735del n.724_726del | gnomAD v4 |
| 11 | g.46725989T>A | CA380265045 | F2 | c.690T>A (p.His230Gln) c.660T>A (p.His220Gln) n.470T>A c.642T>A (p.His214Gln) n.734T>A n.725T>A | |
| 11 | g.46725989T>C | CA474043703 | F2 | c.690T>C (p.His230=) c.660T>C (p.His220=) n.470T>C c.642T>C (p.His214=) n.734T>C n.725T>C | |
| 11 | g.46725989T>G | CA380265046 | F2 | c.690T>G (p.His230Gln) c.660T>G (p.His220Gln) n.470T>G c.642T>G (p.His214Gln) n.734T>G n.725T>G | |
| 11 | g.46725990G>A | CA380265050 | F2 | c.691G>A (p.Gly231Arg) c.661G>A (p.Gly221Arg) n.471G>A c.643G>A (p.Gly215Arg) n.735G>A n.726G>A | gnomAD v4 |
| 11 | g.46725990G>C | CA380265051 | F2 | c.691G>C (p.Gly231Arg) c.661G>C (p.Gly221Arg) n.471G>C c.643G>C (p.Gly215Arg) n.735G>C n.726G>C | |
| 11 | g.46725990G>T | CA380265053 | F2 | c.691G>T (p.Gly231Trp) c.661G>T (p.Gly221Trp) n.471G>T c.643G>T (p.Gly215Trp) n.735G>T n.726G>T | |
| 11 | g.46725991G>A | CA380265055 | F2 | c.692G>A (p.Gly231Glu) c.662G>A (p.Gly221Glu) n.472G>A c.644G>A (p.Gly215Glu) n.736G>A n.727G>A | gnomAD v4 COSMIC |
| 11 | g.46725991G>C | CA380265056 | F2 | c.692G>C (p.Gly231Ala) c.662G>C (p.Gly221Ala) n.472G>C c.644G>C (p.Gly215Ala) n.736G>C n.727G>C | gnomAD v4 |
| 11 | g.46725991G>T | CA380265057 | F2 | c.692G>T (p.Gly231Val) c.662G>T (p.Gly221Val) n.472G>T c.644G>T (p.Gly215Val) n.736G>T n.727G>T | |
| 11 | g.46725992G>A | CA474043708 | F2 | c.693G>A (p.Gly231=) c.663G>A (p.Gly221=) n.473G>A c.645G>A (p.Gly215=) n.737G>A n.728G>A | gnomAD v4 |
| 11 | g.46725992G>C | CA474043709 | F2 | c.693G>C (p.Gly231=) c.663G>C (p.Gly221=) n.473G>C c.645G>C (p.Gly215=) n.737G>C n.728G>C | |
| 11 | g.46725992G= | CA1969072121 | F2 | c.693G= (p.Gly231=) c.663G= (p.Gly221=) n.473G= c.645G= (p.Gly215=) n.737G= n.728G= | |
| 11 | g.46725992G>T | CA474043710 | F2 | c.693G>T (p.Gly231=) c.663G>T (p.Gly221=) n.473G>T c.645G>T (p.Gly215=) n.737G>T n.728G>T | dbSNP gnomAD v4 |
| 11 | g.46725993C>A | CA380265058 | F2 | c.694C>A (p.Leu232Ile) c.664C>A (p.Leu222Ile) n.474C>A c.646C>A (p.Leu216Ile) n.738C>A n.729C>A | |
| 11 | g.46725993C= | CA1969072124 | F2 | c.694C= (p.Leu232=) c.664C= (p.Leu222=) n.474C= c.646C= (p.Leu216=) n.738C= n.729C= | |
| 11 | g.46725993C>G | CA380265060 | F2 | c.694C>G (p.Leu232Val) c.664C>G (p.Leu222Val) n.474C>G c.646C>G (p.Leu216Val) n.738C>G n.729C>G | |
| 11 | g.46725993C>T | CA380265061 | F2 | c.694C>T (p.Leu232Phe) c.664C>T (p.Leu222Phe) n.474C>T c.646C>T (p.Leu216Phe) n.738C>T n.729C>T | dbSNP gnomAD v4 |
| 11 | g.46725994T>A | CA380265066 | F2 | c.695T>A (p.Leu232His) c.665T>A (p.Leu222His) n.475T>A c.647T>A (p.Leu216His) n.739T>A n.730T>A | ClinVar gnomAD v4 |
| 11 | g.46725994T>C | CA380265068 | F2 | c.695T>C (p.Leu232Pro) c.665T>C (p.Leu222Pro) n.475T>C c.647T>C (p.Leu216Pro) n.739T>C n.730T>C | gnomAD v4 |
| 11 | g.46725994T>G | CA380265063 | F2 | c.695T>G (p.Leu232Arg) c.665T>G (p.Leu222Arg) n.475T>G c.647T>G (p.Leu216Arg) n.739T>G n.730T>G | |
| 11 | g.46725995C>A | CA474043712 | F2 | c.696C>A (p.Leu232=) c.666C>A (p.Leu222=) n.476C>A c.648C>A (p.Leu216=) n.740C>A n.731C>A | |
| 11 | g.46725995C>G | CA474043713 | F2 | c.696C>G (p.Leu232=) c.666C>G (p.Leu222=) n.476C>G c.648C>G (p.Leu216=) n.740C>G n.731C>G | |
| 11 | g.46725995C>T | CA474043714 | F2 | c.696C>T (p.Leu232=) c.666C>T (p.Leu222=) n.476C>T c.648C>T (p.Leu216=) n.740C>T n.731C>T | ClinVar gnomAD v4 |
| 11 | g.46725998del | CA2613334515 | F2 | c.699del (p.Cys234AlafsTer12) c.669del (p.Cys224AlafsTer12) n.479del c.651del (p.Cys218AlafsTer12) n.743del n.734del | gnomAD v4 |
| 11 | g.46725995_46725996insA | CA2613334519 | F2 | c.696_697insA (p.Pro233ThrfsTer?) c.666_667insA (p.Pro223ThrfsTer?) n.476_477insA c.648_649insA (p.Pro217ThrfsTer?) n.740_741insA n.731_732insA | gnomAD v4 |
| 11 | g.46725996C>A | CA5967040 | F2 | c.697C>A (p.Pro233Thr) c.667C>A (p.Pro223Thr) n.477C>A c.649C>A (p.Pro217Thr) n.741C>A n.732C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.46725996C= | CA1969072127 | F2 | c.697C= (p.Pro233=) c.667C= (p.Pro223=) n.477C= c.649C= (p.Pro217=) n.741C= n.732C= | |
| 11 | g.46725996C>G | CA380265071 | F2 | c.697C>G (p.Pro233Ala) c.667C>G (p.Pro223Ala) n.477C>G c.649C>G (p.Pro217Ala) n.741C>G n.732C>G | |
| 11 | g.46725996C>T | CA380265073 | F2 | c.697C>T (p.Pro233Ser) c.667C>T (p.Pro223Ser) n.477C>T c.649C>T (p.Pro217Ser) n.741C>T n.732C>T | gnomAD v4 |
| 11 | g.46725997C>A | CA380265075 | F2 | c.698C>A (p.Pro233His) c.668C>A (p.Pro223His) n.478C>A c.650C>A (p.Pro217His) n.742C>A n.733C>A | |
| 11 | g.46725997C= | CA1969072130 | F2 | c.698C= (p.Pro233=) c.668C= (p.Pro223=) n.478C= c.650C= (p.Pro217=) n.742C= n.733C= | |
| 11 | g.46725997C>G | CA380265078 | F2 | c.698C>G (p.Pro233Arg) c.668C>G (p.Pro223Arg) n.478C>G c.650C>G (p.Pro217Arg) n.742C>G n.733C>G | |
| 11 | g.46725997C>T | CA380265080 | F2 | c.698C>T (p.Pro233Leu) c.668C>T (p.Pro223Leu) n.478C>T c.650C>T (p.Pro217Leu) n.742C>T n.733C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.46725998C>A | CA474043715 | F2 | c.699C>A (p.Pro233=) c.669C>A (p.Pro223=) n.479C>A c.651C>A (p.Pro217=) n.743C>A n.734C>A | |
| 11 | g.46725998C= | CA1969072133 | F2 | c.699C= (p.Pro233=) c.669C= (p.Pro223=) n.479C= c.651C= (p.Pro217=) n.743C= n.734C= | |
| 11 | g.46725998C>G | CA474043717 | F2 | c.699C>G (p.Pro233=) c.669C>G (p.Pro223=) n.479C>G c.651C>G (p.Pro217=) n.743C>G n.734C>G | |
| 11 | g.46725998C>T | CA474043716 | F2 | c.699C>T (p.Pro233=) c.669C>T (p.Pro223=) n.479C>T c.651C>T (p.Pro217=) n.743C>T n.734C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.46725999T>A | CA380265082 | F2 | c.700T>A (p.Cys234Ser) c.670T>A (p.Cys224Ser) n.480T>A c.652T>A (p.Cys218Ser) n.744T>A n.735T>A | |
| 11 | g.46725999T>C | CA380265085 | F2 | c.700T>C (p.Cys234Arg) c.670T>C (p.Cys224Arg) n.480T>C c.652T>C (p.Cys218Arg) n.744T>C n.735T>C | |
| 11 | g.46725999T>G | CA380265086 | F2 | c.700T>G (p.Cys234Gly) c.670T>G (p.Cys224Gly) n.480T>G c.652T>G (p.Cys218Gly) n.744T>G n.735T>G | |
| 11 | g.46726000G>A | CA380265089 | F2 | c.701G>A (p.Cys234Tyr) c.671G>A (p.Cys224Tyr) n.481G>A c.653G>A (p.Cys218Tyr) n.745G>A n.736G>A | |
| 11 | g.46726000G>C | CA380265090 | F2 | c.701G>C (p.Cys234Ser) c.671G>C (p.Cys224Ser) n.481G>C c.653G>C (p.Cys218Ser) n.745G>C n.736G>C | |
| 11 | g.46726000G>T | CA380265091 | F2 | c.701G>T (p.Cys234Phe) c.671G>T (p.Cys224Phe) n.481G>T c.653G>T (p.Cys218Phe) n.745G>T n.736G>T | |
| 11 | g.46726001C>A | CA380265096 | F2 | c.702C>A (p.Cys234Ter) c.672C>A (p.Cys224Ter) n.482C>A c.654C>A (p.Cys218Ter) n.746C>A n.737C>A | |
| 11 | g.46726001C>G | CA380265094 | F2 | c.702C>G (p.Cys234Trp) c.672C>G (p.Cys224Trp) n.482C>G c.654C>G (p.Cys218Trp) n.746C>G n.737C>G | |
| 11 | g.46726001C>T | CA474043720 | F2 | c.702C>T (p.Cys234=) c.672C>T (p.Cys224=) n.482C>T c.654C>T (p.Cys218=) n.746C>T n.737C>T | |
| 11 | g.46726002C>A | CA380265099 | F2 | c.703C>A (p.Leu235Met) c.673C>A (p.Leu225Met) n.483C>A c.655C>A (p.Leu219Met) n.747C>A n.738C>A | |
| 11 | g.46726002C= | CA1969072137 | F2 | c.703C= (p.Leu235=) c.673C= (p.Leu225=) n.483C= c.655C= (p.Leu219=) n.747C= n.738C= | |
| 11 | g.46726002C>G | CA380265101 | F2 | c.703C>G (p.Leu235Val) c.673C>G (p.Leu225Val) n.483C>G c.655C>G (p.Leu219Val) n.747C>G n.738C>G | |
| 11 | g.46726002C>T | CA474043721 | F2 | c.703C>T (p.Leu235=) c.673C>T (p.Leu225=) n.483C>T c.655C>T (p.Leu219=) n.747C>T n.738C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.46726003T>A | CA380265104 | F2 | c.704T>A (p.Leu235Gln) c.674T>A (p.Leu225Gln) n.484T>A c.656T>A (p.Leu219Gln) n.748T>A n.739T>A | |
| 11 | g.46726003T>C | CA380265107 | F2 | c.704T>C (p.Leu235Pro) c.674T>C (p.Leu225Pro) n.484T>C c.656T>C (p.Leu219Pro) n.748T>C n.739T>C | |
| 11 | g.46726003T>G | CA380265109 | F2 | c.704T>G (p.Leu235Arg) c.674T>G (p.Leu225Arg) n.484T>G c.656T>G (p.Leu219Arg) n.748T>G n.739T>G | |
| 11 | g.46726004G>A | CA474043723 | F2 | c.705G>A (p.Leu235=) c.675G>A (p.Leu225=) n.485G>A c.657G>A (p.Leu219=) n.749G>A n.740G>A | |
| 11 | g.46726004G>C | CA474043724 | F2 | c.705G>C (p.Leu235=) c.675G>C (p.Leu225=) n.485G>C c.657G>C (p.Leu219=) n.749G>C n.740G>C | |
| 11 | g.46726004G>T | CA474043725 | F2 | c.705G>T (p.Leu235=) c.675G>T (p.Leu225=) n.485G>T c.657G>T (p.Leu219=) n.749G>T n.740G>T | |
| 11 | g.46726005G>A | CA5967041 | F2 | c.706G>A (p.Ala236Thr) c.676G>A (p.Ala226Thr) n.486G>A c.658G>A (p.Ala220Thr) n.750G>A n.741G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726005G>C | CA380265112 | F2 | c.706G>C (p.Ala236Pro) c.676G>C (p.Ala226Pro) n.486G>C c.658G>C (p.Ala220Pro) n.750G>C n.741G>C | |
| 11 | g.46726005G= | CA1969072142 | F2 | c.706G= (p.Ala236=) c.676G= (p.Ala226=) n.486G= c.658G= (p.Ala220=) n.750G= n.741G= | |
| 11 | g.46726005G>T | CA380265115 | F2 | c.706G>T (p.Ala236Ser) c.676G>T (p.Ala226Ser) n.486G>T c.658G>T (p.Ala220Ser) n.750G>T n.741G>T | gnomAD v4 |
| 11 | g.46726006C>A | CA380265116 | F2 | c.707C>A (p.Ala236Asp) c.677C>A (p.Ala226Asp) n.487C>A c.659C>A (p.Ala220Asp) n.751C>A n.742C>A | |
| 11 | g.46726006C>G | CA380265118 | F2 | c.707C>G (p.Ala236Gly) c.677C>G (p.Ala226Gly) n.487C>G c.659C>G (p.Ala220Gly) n.751C>G n.742C>G | |
| 11 | g.46726006C>T | CA380265119 | F2 | c.707C>T (p.Ala236Val) c.677C>T (p.Ala226Val) n.487C>T c.659C>T (p.Ala220Val) n.751C>T n.742C>T | |
| 11 | g.46726007C>A | CA474043726 | F2 | c.708C>A (p.Ala236=) c.678C>A (p.Ala226=) n.488C>A c.660C>A (p.Ala220=) n.752C>A n.743C>A | |
| 11 | g.46726007C= | CA1969072146 | F2 | c.708C= (p.Ala236=) c.678C= (p.Ala226=) n.488C= c.660C= (p.Ala220=) n.752C= n.743C= | |
| 11 | g.46726007C>G | CA474043727 | F2 | c.708C>G (p.Ala236=) c.678C>G (p.Ala226=) n.488C>G c.660C>G (p.Ala220=) n.752C>G n.743C>G | |
| 11 | g.46726007C>T | CA221652038 | F2 | c.708C>T (p.Ala236=) c.678C>T (p.Ala226=) n.488C>T c.660C>T (p.Ala220=) n.752C>T n.743C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726008T>A | CA380265121 | F2 | c.709T>A (p.Trp237Arg) c.679T>A (p.Trp227Arg) n.489T>A c.661T>A (p.Trp221Arg) n.753T>A n.744T>A | |
| 11 | g.46726008T>C | CA380265122 | F2 | c.709T>C (p.Trp237Arg) c.679T>C (p.Trp227Arg) n.489T>C c.661T>C (p.Trp221Arg) n.753T>C n.744T>C | |
| 11 | g.46726008T>G | CA380265123 | F2 | c.709T>G (p.Trp237Gly) c.679T>G (p.Trp227Gly) n.489T>G c.661T>G (p.Trp221Gly) n.753T>G n.744T>G | |
| 11 | g.46726009G>A | CA380265127 | F2 | c.710G>A (p.Trp237Ter) c.680G>A (p.Trp227Ter) n.490G>A c.662G>A (p.Trp221Ter) n.754G>A n.745G>A | |
| 11 | g.46726009G>C | CA380265129 | F2 | c.710G>C (p.Trp237Ser) c.680G>C (p.Trp227Ser) n.490G>C c.662G>C (p.Trp221Ser) n.754G>C n.745G>C | |
| 11 | g.46726009G>T | CA380265125 | F2 | c.710G>T (p.Trp237Leu) c.680G>T (p.Trp227Leu) n.490G>T c.662G>T (p.Trp221Leu) n.754G>T n.745G>T | |
| 11 | g.46726010G>A | CA380265135 | F2 | c.711G>A (p.Trp237Ter) c.681G>A (p.Trp227Ter) n.491G>A c.663G>A (p.Trp221Ter) n.755G>A n.746G>A | gnomAD v4 |
| 11 | g.46726010G>C | CA380265131 | F2 | c.711G>C (p.Trp237Cys) c.681G>C (p.Trp227Cys) n.491G>C c.663G>C (p.Trp221Cys) n.755G>C n.746G>C | |
| 11 | g.46726010G>T | CA380265132 | F2 | c.711G>T (p.Trp237Cys) c.681G>T (p.Trp227Cys) n.491G>T c.663G>T (p.Trp221Cys) n.755G>T n.746G>T | |
| 11 | g.46726011G>A | CA380265137 | F2 | c.712G>A (p.Ala238Thr) c.682G>A (p.Ala228Thr) n.492G>A c.664G>A (p.Ala222Thr) n.756G>A n.747G>A | |
| 11 | g.46726011G>C | CA380265139 | F2 | c.712G>C (p.Ala238Pro) c.682G>C (p.Ala228Pro) n.492G>C c.664G>C (p.Ala222Pro) n.756G>C n.747G>C | |
| 11 | g.46726011G= | CA1969072149 | F2 | c.712G= (p.Ala238=) c.682G= (p.Ala228=) n.492G= c.664G= (p.Ala222=) n.756G= n.747G= | |
| 11 | g.46726011G>T | CA380265140 | F2 | c.712G>T (p.Ala238Ser) c.682G>T (p.Ala228Ser) n.492G>T c.664G>T (p.Ala222Ser) n.756G>T n.747G>T | |
| 11 | g.46726012C>A | CA380265146 | F2 | c.713C>A (p.Ala238Asp) c.683C>A (p.Ala228Asp) n.493C>A c.665C>A (p.Ala222Asp) n.757C>A n.748C>A | |
| 11 | g.46726012C>G | CA380265144 | F2 | c.713C>G (p.Ala238Gly) c.683C>G (p.Ala228Gly) n.493C>G c.665C>G (p.Ala222Gly) n.757C>G n.748C>G | |
| 11 | g.46726012C>T | CA380265142 | F2 | c.713C>T (p.Ala238Val) c.683C>T (p.Ala228Val) n.493C>T c.665C>T (p.Ala222Val) n.757C>T n.748C>T | |
| 11 | g.46726013dup | CA599372386 | F2 | c.714dup (p.Ser239GlnfsTer?) c.684dup (p.Ser229GlnfsTer?) n.494dup c.666dup (p.Ser223GlnfsTer?) n.758dup n.749dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726013C>A | CA474043732 | F2 | c.714C>A (p.Ala238=) c.684C>A (p.Ala228=) n.494C>A c.666C>A (p.Ala222=) n.758C>A n.749C>A | |
| 11 | g.46726013C>G | CA474043734 | F2 | c.714C>G (p.Ala238=) c.684C>G (p.Ala228=) n.494C>G c.666C>G (p.Ala222=) n.758C>G n.749C>G | |
| 11 | g.46726013C>T | CA474043735 | F2 | c.714C>T (p.Ala238=) c.684C>T (p.Ala228=) n.494C>T c.666C>T (p.Ala222=) n.758C>T n.749C>T | |
| 11 | g.46726014A= | CA1969072154 | F2 | c.715A= (p.Ser239=) c.685A= (p.Ser229=) n.495A= c.667A= (p.Ser223=) n.759A= n.750A= | |
| 11 | g.46726014A>C | CA380265147 | F2 | c.715A>C (p.Ser239Arg) c.685A>C (p.Ser229Arg) n.495A>C c.667A>C (p.Ser223Arg) n.759A>C n.750A>C | |
| 11 | g.46726014A>G | CA5967042 | F2 | c.715A>G (p.Ser239Gly) c.685A>G (p.Ser229Gly) n.495A>G c.667A>G (p.Ser223Gly) n.759A>G n.750A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726014A>T | CA380265149 | F2 | c.715A>T (p.Ser239Cys) c.685A>T (p.Ser229Cys) n.495A>T c.667A>T (p.Ser223Cys) n.759A>T n.750A>T | |
| 11 | g.46726015G>A | CA5967043 | F2 | c.716G>A (p.Ser239Asn) c.686G>A (p.Ser229Asn) n.496G>A c.668G>A (p.Ser223Asn) n.760G>A n.751G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.46726015G>C | CA380265152 | F2 | c.716G>C (p.Ser239Thr) c.686G>C (p.Ser229Thr) n.496G>C c.668G>C (p.Ser223Thr) n.760G>C n.751G>C | |
| 11 | g.46726015G= | CA1969072159 | F2 | c.716G= (p.Ser239=) c.686G= (p.Ser229=) n.496G= c.668G= (p.Ser223=) n.760G= n.751G= | |
| 11 | g.46726015G>T | CA380265155 | F2 | c.716G>T (p.Ser239Ile) c.686G>T (p.Ser229Ile) n.496G>T c.668G>T (p.Ser223Ile) n.760G>T n.751G>T | |
| 11 | g.46726016C>A | CA380265158 | F2 | c.717C>A (p.Ser239Arg) c.687C>A (p.Ser229Arg) n.497C>A c.669C>A (p.Ser223Arg) n.761C>A n.752C>A | |
| 11 | g.46726016C= | CA1969072163 | F2 | c.717C= (p.Ser239=) c.687C= (p.Ser229=) n.497C= c.669C= (p.Ser223=) n.761C= n.752C= | |
| 11 | g.46726016C>G | CA380265160 | F2 | c.717C>G (p.Ser239Arg) c.687C>G (p.Ser229Arg) n.497C>G c.669C>G (p.Ser223Arg) n.761C>G n.752C>G | |
| 11 | g.46726016C>T | CA5967044 | F2 | c.717C>T (p.Ser239=) c.687C>T (p.Ser229=) n.497C>T c.669C>T (p.Ser223=) n.761C>T n.752C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726017G>A | CA5967045 | F2 | c.718G>A (p.Ala240Thr) c.688G>A (p.Ala230Thr) n.498G>A c.670G>A (p.Ala224Thr) n.762G>A n.753G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726017G>C | CA380265163 | F2 | c.718G>C (p.Ala240Pro) c.688G>C (p.Ala230Pro) n.498G>C c.670G>C (p.Ala224Pro) n.762G>C n.753G>C | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.46726017G= | CA1969072166 | F2 | c.718G= (p.Ala240=) c.688G= (p.Ala230=) n.498G= c.670G= (p.Ala224=) n.762G= n.753G= | |
| 11 | g.46726017G>T | CA380265166 | F2 | c.718G>T (p.Ala240Ser) c.688G>T (p.Ala230Ser) n.498G>T c.670G>T (p.Ala224Ser) n.762G>T n.753G>T | dbSNP COSMIC |
| 11 | g.46726018C>A | CA380265168 | F2 | c.719C>A (p.Ala240Glu) c.689C>A (p.Ala230Glu) n.499C>A c.671C>A (p.Ala224Glu) n.763C>A n.754C>A | |
| 11 | g.46726018C>G | CA380265170 | F2 | c.719C>G (p.Ala240Gly) c.689C>G (p.Ala230Gly) n.499C>G c.671C>G (p.Ala224Gly) n.763C>G n.754C>G | |
| 11 | g.46726018C>T | CA380265172 | F2 | c.719C>T (p.Ala240Val) c.689C>T (p.Ala230Val) n.499C>T c.671C>T (p.Ala224Val) n.763C>T n.754C>T | |
| 11 | g.46726019A= | CA1969072170 | F2 | c.720A= (p.Ala240=) c.690A= (p.Ala230=) n.500A= c.672A= (p.Ala224=) n.764A= n.755A= | |
| 11 | g.46726019A>C | CA221652051 | F2 | c.720A>C (p.Ala240=) c.690A>C (p.Ala230=) n.500A>C c.672A>C (p.Ala224=) n.764A>C n.755A>C | dbSNP |
| 11 | g.46726019A>G | CA474043738 | F2 | c.720A>G (p.Ala240=) c.690A>G (p.Ala230=) n.500A>G c.672A>G (p.Ala224=) n.764A>G n.755A>G | gnomAD v4 |
| 11 | g.46726019A>T | CA474043737 | F2 | c.720A>T (p.Ala240=) c.690A>T (p.Ala230=) n.500A>T c.672A>T (p.Ala224=) n.764A>T n.755A>T | |
| 11 | g.46726020C>A | CA380265176 | F2 | c.721C>A (p.Gln241Lys) c.691C>A (p.Gln231Lys) n.501C>A c.673C>A (p.Gln225Lys) n.765C>A n.756C>A | |
| 11 | g.46726020C>G | CA380265178 | F2 | c.721C>G (p.Gln241Glu) c.691C>G (p.Gln231Glu) n.501C>G c.673C>G (p.Gln225Glu) n.765C>G n.756C>G | |
| 11 | g.46726020C>T | CA380265179 | F2 | c.721C>T (p.Gln241Ter) c.691C>T (p.Gln231Ter) n.501C>T c.673C>T (p.Gln225Ter) n.765C>T n.756C>T | |
| 11 | g.46726021A= | CA1969072175 | F2 | c.722A= (p.Gln241=) c.692A= (p.Gln231=) n.502A= c.674A= (p.Gln225=) n.766A= n.757A= | |
| 11 | g.46726021A>C | CA380265181 | F2 | c.722A>C (p.Gln241Pro) c.692A>C (p.Gln231Pro) n.502A>C c.674A>C (p.Gln225Pro) n.766A>C n.757A>C | |
| 11 | g.46726021A>G | CA380265184 | F2 | c.722A>G (p.Gln241Arg) c.692A>G (p.Gln231Arg) n.502A>G c.674A>G (p.Gln225Arg) n.766A>G n.757A>G | dbSNP |
| 11 | g.46726021A>T | CA380265187 | F2 | c.722A>T (p.Gln241Leu) c.692A>T (p.Gln231Leu) n.502A>T c.674A>T (p.Gln225Leu) n.766A>T n.757A>T | |
| 11 | g.46726022G>A | CA474043739 | F2 | c.723G>A (p.Gln241=) c.693G>A (p.Gln231=) n.503G>A c.675G>A (p.Gln225=) n.767G>A n.758G>A | gnomAD v4 |
| 11 | g.46726022G>C | CA380265189 | F2 | c.723G>C (p.Gln241His) c.693G>C (p.Gln231His) n.503G>C c.675G>C (p.Gln225His) n.767G>C n.758G>C | |
| 11 | g.46726022G>T | CA380265191 | F2 | c.723G>T (p.Gln241His) c.693G>T (p.Gln231His) n.503G>T c.675G>T (p.Gln225His) n.767G>T n.758G>T | |
| 11 | g.46726023G>A | CA380265193 | F2 | c.724G>A (p.Ala242Thr) c.694G>A (p.Ala232Thr) n.504G>A c.676G>A (p.Ala226Thr) n.768G>A n.759G>A | |
| 11 | g.46726023G>C | CA380265196 | F2 | c.724G>C (p.Ala242Pro) c.694G>C (p.Ala232Pro) n.504G>C c.676G>C (p.Ala226Pro) n.768G>C n.759G>C | |
| 11 | g.46726023G>T | CA380265197 | F2 | c.724G>T (p.Ala242Ser) c.694G>T (p.Ala232Ser) n.504G>T c.676G>T (p.Ala226Ser) n.768G>T n.759G>T | |
| 11 | g.46726024C>A | CA380265200 | F2 | c.725C>A (p.Ala242Asp) c.695C>A (p.Ala232Asp) n.505C>A c.677C>A (p.Ala226Asp) n.769C>A n.760C>A | |
| 11 | g.46726024C>G | CA380265202 | F2 | c.725C>G (p.Ala242Gly) c.695C>G (p.Ala232Gly) n.505C>G c.677C>G (p.Ala226Gly) n.769C>G n.760C>G | |
| 11 | g.46726024C>T | CA380265203 | F2 | c.725C>T (p.Ala242Val) c.695C>T (p.Ala232Val) n.505C>T c.677C>T (p.Ala226Val) n.769C>T n.760C>T | |
| 11 | g.46726025C>A | CA474043740 | F2 | c.726C>A (p.Ala242=) c.696C>A (p.Ala232=) n.506C>A c.678C>A (p.Ala226=) n.770C>A n.761C>A | |
| 11 | g.46726025C>G | CA474043742 | F2 | c.726C>G (p.Ala242=) c.696C>G (p.Ala232=) n.506C>G c.678C>G (p.Ala226=) n.770C>G n.761C>G | |
| 11 | g.46726025C>T | CA474043741 | F2 | c.726C>T (p.Ala242=) c.696C>T (p.Ala232=) n.506C>T c.678C>T (p.Ala226=) n.770C>T n.761C>T | ClinVar gnomAD v4 |
| 11 | g.46726026A= | CA1969072177 | F2 | c.727A= (p.Lys243=) c.697A= (p.Lys233=) n.507A= c.679A= (p.Lys227=) n.771A= n.762A= | |
| 11 | g.46726026A>C | CA380265206 | F2 | c.727A>C (p.Lys243Gln) c.697A>C (p.Lys233Gln) n.507A>C c.679A>C (p.Lys227Gln) n.771A>C n.762A>C | |
| 11 | g.46726026A>G | CA380265204 | F2 | c.727A>G (p.Lys243Glu) c.697A>G (p.Lys233Glu) n.507A>G c.679A>G (p.Lys227Glu) n.771A>G n.762A>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.46726026A>T | CA380265205 | F2 | c.727A>T (p.Lys243Ter) c.697A>T (p.Lys233Ter) n.507A>T c.679A>T (p.Lys227Ter) n.771A>T n.762A>T | |
| 11 | g.46726027A>C | CA380265207 | F2 | c.728A>C (p.Lys243Thr) c.698A>C (p.Lys233Thr) n.508A>C c.680A>C (p.Lys227Thr) n.772A>C n.763A>C | |
| 11 | g.46726027A>G | CA380265210 | F2 | c.728A>G (p.Lys243Arg) c.698A>G (p.Lys233Arg) n.508A>G c.680A>G (p.Lys227Arg) n.772A>G n.763A>G | |
| 11 | g.46726027A>T | CA380265212 | F2 | c.728A>T (p.Lys243Met) c.698A>T (p.Lys233Met) n.508A>T c.680A>T (p.Lys227Met) n.772A>T n.763A>T | |
| 11 | g.46726028G>A | CA474043743 | F2 | c.729G>A (p.Lys243=) c.699G>A (p.Lys233=) n.509G>A c.681G>A (p.Lys227=) n.773G>A n.764G>A | |
| 11 | g.46726028G>C | CA380265214 | F2 | c.729G>C (p.Lys243Asn) c.699G>C (p.Lys233Asn) n.509G>C c.681G>C (p.Lys227Asn) n.773G>C n.764G>C | |
| 11 | g.46726028G>T | CA380265217 | F2 | c.729G>T (p.Lys243Asn) c.699G>T (p.Lys233Asn) n.509G>T c.681G>T (p.Lys227Asn) n.773G>T n.764G>T | |
| 11 | g.46726029G>A | CA380265223 | F2 | c.730G>A (p.Ala244Thr) c.700G>A (p.Ala234Thr) n.510G>A c.682G>A (p.Ala228Thr) n.774G>A n.765G>A | |
| 11 | g.46726029G>C | CA380265226 | F2 | c.730G>C (p.Ala244Pro) c.700G>C (p.Ala234Pro) n.510G>C c.682G>C (p.Ala228Pro) n.774G>C n.765G>C | dbSNP |
| 11 | g.46726029G= | CA1969072184 | F2 | c.730G= (p.Ala244=) c.700G= (p.Ala234=) n.510G= c.682G= (p.Ala228=) n.774G= n.765G= | |
| 11 | g.46726029G>T | CA10634977 | F2 | c.730G>T (p.Ala244Ser) c.700G>T (p.Ala234Ser) n.510G>T c.682G>T (p.Ala228Ser) n.774G>T n.765G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.46726030C>A | CA380265228 | F2 | c.731C>A (p.Ala244Asp) c.701C>A (p.Ala234Asp) n.511C>A c.683C>A (p.Ala228Asp) n.775C>A n.766C>A | |
| 11 | g.46726030C>G | CA380265230 | F2 | c.731C>G (p.Ala244Gly) c.701C>G (p.Ala234Gly) n.511C>G c.683C>G (p.Ala228Gly) n.775C>G n.766C>G | |
| 11 | g.46726030C>T | CA380265232 | F2 | c.731C>T (p.Ala244Val) c.701C>T (p.Ala234Val) n.511C>T c.683C>T (p.Ala228Val) n.775C>T n.766C>T | gnomAD v4 |
| 11 | g.46726031C>A | CA474043744 | F2 | c.732C>A (p.Ala244=) c.702C>A (p.Ala234=) n.512C>A c.684C>A (p.Ala228=) n.776C>A n.767C>A | |
| 11 | g.46726031C>G | CA474043745 | F2 | c.732C>G (p.Ala244=) c.702C>G (p.Ala234=) n.512C>G c.684C>G (p.Ala228=) n.776C>G n.767C>G | |
| 11 | g.46726031C>T | CA474043746 | F2 | c.732C>T (p.Ala244=) c.702C>T (p.Ala234=) n.512C>T c.684C>T (p.Ala228=) n.776C>T n.767C>T | |
| 11 | g.46726032C>A | CA380265234 | F2 | c.733C>A (p.Leu245Met) c.703C>A (p.Leu235Met) n.513C>A c.685C>A (p.Leu229Met) n.777C>A n.768C>A | |
| 11 | g.46726032C= | CA1969072191 | F2 | c.733C= (p.Leu245=) c.703C= (p.Leu235=) n.513C= c.685C= (p.Leu229=) n.777C= n.768C= | |
| 11 | g.46726032C>G | CA221652052 | F2 | c.733C>G (p.Leu245Val) c.703C>G (p.Leu235Val) n.513C>G c.685C>G (p.Leu229Val) n.777C>G n.768C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726032C>T | CA474043747 | F2 | c.733C>T (p.Leu245=) c.703C>T (p.Leu235=) n.513C>T c.685C>T (p.Leu229=) n.777C>T n.768C>T | |
| 11 | g.46726032_46726033delinsCT | CA1969072190 | F2 | c.733_734delinsCT (p.Leu245=) c.703_704delinsCT (p.Leu235=) n.513_514delinsCT c.685_686delinsCT (p.Leu229=) n.777_778delinsCT n.768_769delinsCT | |
| 11 | g.46726033del | CA174094 | F2 | c.734del (p.Leu245ArgfsTer?) c.704del (p.Leu235ArgfsTer?) n.514del c.686del (p.Leu229ArgfsTer?) n.778del n.769del | ClinVar dbSNP COSMIC |
| 11 | g.46726033T>A | CA380265238 | F2 | c.734T>A (p.Leu245Gln) c.704T>A (p.Leu235Gln) n.514T>A c.686T>A (p.Leu229Gln) n.778T>A n.769T>A | |
| 11 | g.46726033T>C | CA5967046 | F2 | c.734T>C (p.Leu245Pro) c.704T>C (p.Leu235Pro) n.514T>C c.686T>C (p.Leu229Pro) n.778T>C n.769T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46726033T>G | CA380265241 | F2 | c.734T>G (p.Leu245Arg) c.704T>G (p.Leu235Arg) n.514T>G c.686T>G (p.Leu229Arg) n.778T>G n.769T>G | dbSNP |
| 11 | g.46726033T= | CA1969072194 | F2 | c.734T= (p.Leu245=) c.704T= (p.Leu235=) n.514T= c.686T= (p.Leu229=) n.778T= n.769T= | |
| 11 | g.46726034G>A | CA474043748 | F2 | c.735G>A (p.Leu245=) c.705G>A (p.Leu235=) n.515G>A c.687G>A (p.Leu229=) n.779G>A n.770G>A | |
| 11 | g.46726034G>C | CA474043749 | F2 | c.735G>C (p.Leu245=) c.705G>C (p.Leu235=) n.515G>C c.687G>C (p.Leu229=) n.779G>C n.770G>C | |
| 11 | g.46726034G>T | CA474043750 | F2 | c.735G>T (p.Leu245=) c.705G>T (p.Leu235=) n.515G>T c.687G>T (p.Leu229=) n.779G>T n.770G>T | |
| 11 | g.46726035A>C | CA380265245 | F2 | c.736A>C (p.Ser246Arg) c.706A>C (p.Ser236Arg) n.516A>C c.688A>C (p.Ser230Arg) n.780A>C n.771A>C | |
| 11 | g.46726035A>G | CA380265247 | F2 | c.736A>G (p.Ser246Gly) c.706A>G (p.Ser236Gly) n.516A>G c.688A>G (p.Ser230Gly) n.780A>G n.771A>G | |
| 11 | g.46726035A>T | CA380265248 | F2 | c.736A>T (p.Ser246Cys) c.706A>T (p.Ser236Cys) n.516A>T c.688A>T (p.Ser230Cys) n.780A>T n.771A>T | |
| 11 | g.46726036G>A | CA380265253 | F2 | c.737G>A (p.Ser246Asn) c.707G>A (p.Ser236Asn) n.517G>A c.689G>A (p.Ser230Asn) n.781G>A n.772G>A | gnomAD v4 |
| 11 | g.46726036G>C | CA380265255 | F2 | c.737G>C (p.Ser246Thr) c.707G>C (p.Ser236Thr) n.517G>C c.689G>C (p.Ser230Thr) n.781G>C n.772G>C | |
| 11 | g.46726036G>T | CA380265252 | F2 | c.737G>T (p.Ser246Ile) c.707G>T (p.Ser236Ile) n.517G>T c.689G>T (p.Ser230Ile) n.781G>T n.772G>T | |
| 11 | g.46726037C>A | CA380265257 | F2 | c.738C>A (p.Ser246Arg) c.708C>A (p.Ser236Arg) n.518C>A c.690C>A (p.Ser230Arg) n.782C>A n.773C>A | |
| 11 | g.46726037C>G | CA380265259 | F2 | c.738C>G (p.Ser246Arg) c.708C>G (p.Ser236Arg) n.518C>G c.690C>G (p.Ser230Arg) n.782C>G n.773C>G | |
| 11 | g.46726037C>T | CA474043751 | F2 | c.738C>T (p.Ser246=) c.708C>T (p.Ser236=) n.518C>T c.690C>T (p.Ser230=) n.782C>T n.773C>T | |
| 11 | g.46726038A>C | CA380265262 | F2 | c.739A>C (p.Lys247Gln) c.709A>C (p.Lys237Gln) n.519A>C c.691A>C (p.Lys231Gln) n.783A>C n.774A>C | |
| 11 | g.46726038A>G | CA380265264 | F2 | c.739A>G (p.Lys247Glu) c.709A>G (p.Lys237Glu) n.519A>G c.691A>G (p.Lys231Glu) n.783A>G n.774A>G | gnomAD v4 |
| 11 | g.46726038A>T | CA380265266 | F2 | c.739A>T (p.Lys247Ter) c.709A>T (p.Lys237Ter) n.519A>T c.691A>T (p.Lys231Ter) n.783A>T n.774A>T | |
| 11 | g.46726039A>C | CA380265268 | F2 | c.740A>C (p.Lys247Thr) c.710A>C (p.Lys237Thr) n.520A>C c.692A>C (p.Lys231Thr) n.784A>C n.775A>C | |
| 11 | g.46726039A>G | CA380265270 | F2 | c.740A>G (p.Lys247Arg) c.710A>G (p.Lys237Arg) n.520A>G c.692A>G (p.Lys231Arg) n.784A>G n.775A>G | |
| 11 | g.46726039A>T | CA380265273 | F2 | c.740A>T (p.Lys247Met) c.710A>T (p.Lys237Met) n.520A>T c.692A>T (p.Lys231Met) n.784A>T n.775A>T | |
| 11 | g.46726040G>A | CA474043752 | F2 | c.741G>A (p.Lys247=) c.711G>A (p.Lys237=) n.521G>A c.693G>A (p.Lys231=) n.785G>A n.776G>A | |
| 11 | g.46726040G>C | CA380265274 | F2 | c.741G>C (p.Lys247Asn) c.711G>C (p.Lys237Asn) n.521G>C c.693G>C (p.Lys231Asn) n.785G>C n.776G>C | gnomAD v4 |
| 11 | g.46726040G>T | CA380265276 | F2 | c.741G>T (p.Lys247Asn) c.711G>T (p.Lys237Asn) n.521G>T c.693G>T (p.Lys231Asn) n.785G>T n.776G>T | |
| 11 | g.46726041C>A | CA380265277 | F2 | c.742C>A (p.His248Asn) c.712C>A (p.His238Asn) n.522C>A c.694C>A (p.His232Asn) n.786C>A n.777C>A | |
| 11 | g.46726041C>G | CA380265279 | F2 | c.742C>G (p.His248Asp) c.712C>G (p.His238Asp) n.522C>G c.694C>G (p.His232Asp) n.786C>G n.777C>G | gnomAD v4 |
| 11 | g.46726041C>T | CA380265281 | F2 | c.742C>T (p.His248Tyr) c.712C>T (p.His238Tyr) n.522C>T c.694C>T (p.His232Tyr) n.786C>T n.777C>T | |
| 11 | g.46726042A= | CA1969072197 | F2 | c.743A= (p.His248=) c.713A= (p.His238=) n.523A= c.695A= (p.His232=) n.787A= n.778A= | |
| 11 | g.46726042A>C | CA380265286 | F2 | c.743A>C (p.His248Pro) c.713A>C (p.His238Pro) n.523A>C c.695A>C (p.His232Pro) n.787A>C n.778A>C | |
| 11 | g.46726042A>G | CA380265285 | F2 | c.743A>G (p.His248Arg) c.713A>G (p.His238Arg) n.523A>G c.695A>G (p.His232Arg) n.787A>G n.778A>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.46726042A>T | CA380265282 | F2 | c.743A>T (p.His248Leu) c.713A>T (p.His238Leu) n.523A>T c.695A>T (p.His232Leu) n.787A>T n.778A>T | |
| 11 | g.46726043C>A | CA380265288 | F2 | c.744C>A (p.His248Gln) c.714C>A (p.His238Gln) n.524C>A c.696C>A (p.His232Gln) n.788C>A n.779C>A | |
| 11 | g.46726043C>G | CA380265290 | F2 | c.744C>G (p.His248Gln) c.714C>G (p.His238Gln) n.524C>G c.696C>G (p.His232Gln) n.788C>G n.779C>G | |
| 11 | g.46726043C>T | CA474043753 | F2 | c.744C>T (p.His248=) c.714C>T (p.His238=) n.524C>T c.696C>T (p.His232=) n.788C>T n.779C>T | |
| 11 | g.46726044C>A | CA380265293 | F2 | c.745C>A (p.Gln249Lys) c.715C>A (p.Gln239Lys) n.525C>A c.697C>A (p.Gln233Lys) n.789C>A n.780C>A | |
| 11 | g.46726044C>G | CA380265294 | F2 | c.745C>G (p.Gln249Glu) c.715C>G (p.Gln239Glu) n.525C>G c.697C>G (p.Gln233Glu) n.789C>G n.780C>G | |
| 11 | g.46726044C>T | CA380265297 | F2 | c.745C>T (p.Gln249Ter) c.715C>T (p.Gln239Ter) n.525C>T c.697C>T (p.Gln233Ter) n.789C>T n.780C>T | |
| 11 | g.46726045A>C | CA380265298 | F2 | c.746A>C (p.Gln249Pro) c.716A>C (p.Gln239Pro) n.526A>C c.698A>C (p.Gln233Pro) n.790A>C n.781A>C | |
| 11 | g.46726045A>G | CA380265302 | F2 | c.746A>G (p.Gln249Arg) c.716A>G (p.Gln239Arg) n.526A>G c.698A>G (p.Gln233Arg) n.790A>G n.781A>G | gnomAD v4 |
| 11 | g.46726045A>T | CA380265303 | F2 | c.746A>T (p.Gln249Leu) c.716A>T (p.Gln239Leu) n.526A>T c.698A>T (p.Gln233Leu) n.790A>T n.781A>T | |
| 11 | g.46726046G>A | CA474043754 | F2 | c.747G>A (p.Gln249=) c.717G>A (p.Gln239=) n.527G>A c.699G>A (p.Gln233=) n.791G>A n.782G>A | |
| 11 | g.46726046G>C | CA380265304 | F2 | c.747G>C (p.Gln249His) c.717G>C (p.Gln239His) n.527G>C c.699G>C (p.Gln233His) n.791G>C n.782G>C | gnomAD v4 |
| 11 | g.46726046G>T | CA380265306 | F2 | c.747G>T (p.Gln249His) c.717G>T (p.Gln239His) n.527G>T c.699G>T (p.Gln233His) n.791G>T n.782G>T | |
| 11 | g.46726047G>A | CA380265308 | F2 | c.748G>A (p.Asp250Asn) c.718G>A (p.Asp240Asn) n.528G>A c.700G>A (p.Asp234Asn) n.792G>A n.783G>A | |
| 11 | g.46726047G>C | CA380265310 | F2 | c.748G>C (p.Asp250His) c.718G>C (p.Asp240His) n.528G>C c.700G>C (p.Asp234His) n.792G>C n.783G>C | |
| 11 | g.46726047G>T | CA380265312 | F2 | c.748G>T (p.Asp250Tyr) c.718G>T (p.Asp240Tyr) n.528G>T c.700G>T (p.Asp234Tyr) n.792G>T n.783G>T | |
| 11 | g.46726048A>C | CA380265318 | F2 | c.749A>C (p.Asp250Ala) c.719A>C (p.Asp240Ala) n.529A>C c.701A>C (p.Asp234Ala) n.793A>C n.784A>C | |
| 11 | g.46726048A>G | CA380265316 | F2 | c.749A>G (p.Asp250Gly) c.719A>G (p.Asp240Gly) n.529A>G c.701A>G (p.Asp234Gly) n.793A>G n.784A>G | gnomAD v4 |
| 11 | g.46726048A>T | CA380265315 | F2 | c.749A>T (p.Asp250Val) c.719A>T (p.Asp240Val) n.529A>T c.701A>T (p.Asp234Val) n.793A>T n.784A>T | |
| 11 | g.46726049C>A | CA380265323 | F2 | c.750C>A (p.Asp250Glu) c.720C>A (p.Asp240Glu) n.530C>A c.702C>A (p.Asp234Glu) n.794C>A n.785C>A | |
| 11 | g.46726049C>G | CA380265320 | F2 | c.750C>G (p.Asp250Glu) c.720C>G (p.Asp240Glu) n.530C>G c.702C>G (p.Asp234Glu) n.794C>G n.785C>G | |
| 11 | g.46726049C>T | CA474043755 | F2 | c.750C>T (p.Asp250=) c.720C>T (p.Asp240=) n.530C>T c.702C>T (p.Asp234=) n.794C>T n.785C>T | |
| 11 | g.46726050T>A | CA380265326 | F2 | c.751T>A (p.Phe251Ile) c.721T>A (p.Phe241Ile) n.531T>A c.703T>A (p.Phe235Ile) n.795T>A n.786T>A | |
| 11 | g.46726050T>C | CA380265327 | F2 | c.751T>C (p.Phe251Leu) c.721T>C (p.Phe241Leu) n.531T>C c.703T>C (p.Phe235Leu) n.795T>C n.786T>C | |
| 11 | g.46726050T>G | CA380265328 | F2 | c.751T>G (p.Phe251Val) c.721T>G (p.Phe241Val) n.531T>G c.703T>G (p.Phe235Val) n.795T>G n.786T>G | |
| 11 | g.46726051T>A | CA380265331 | F2 | c.752T>A (p.Phe251Tyr) c.722T>A (p.Phe241Tyr) n.532T>A c.704T>A (p.Phe235Tyr) n.796T>A n.787T>A | gnomAD v4 |
| 11 | g.46726051T>C | CA380265334 | F2 | c.752T>C (p.Phe251Ser) c.722T>C (p.Phe241Ser) n.532T>C c.704T>C (p.Phe235Ser) n.796T>C n.787T>C | |
| 11 | g.46726051T>G | CA380265335 | F2 | c.752T>G (p.Phe251Cys) c.722T>G (p.Phe241Cys) n.532T>G c.704T>G (p.Phe235Cys) n.796T>G n.787T>G | |
| 11 | g.46726052C>A | CA380265337 | F2 | c.753C>A (p.Phe251Leu) c.723C>A (p.Phe241Leu) n.533C>A c.705C>A (p.Phe235Leu) n.797C>A n.788C>A | |
| 11 | g.46726052C>G | CA380265340 | F2 | c.753C>G (p.Phe251Leu) c.723C>G (p.Phe241Leu) n.533C>G c.705C>G (p.Phe235Leu) n.797C>G n.788C>G | |
| 11 | g.46726052C>T | CA474043756 | F2 | c.753C>T (p.Phe251=) c.723C>T (p.Phe241=) n.533C>T c.705C>T (p.Phe235=) n.797C>T n.788C>T | |
| 11 | g.46726053A= | CA1969072199 | F2 | c.754A= (p.Asn252=) c.724A= (p.Asn242=) n.534A= c.706A= (p.Asn236=) n.798A= n.789A= | |
| 11 | g.46726053A>C | CA380265344 | F2 | c.754A>C (p.Asn252His) c.724A>C (p.Asn242His) n.534A>C c.706A>C (p.Asn236His) n.798A>C n.789A>C | dbSNP gnomAD v4 |
| 11 | g.46726053A>G | CA380265345 | F2 | c.754A>G (p.Asn252Asp) c.724A>G (p.Asn242Asp) n.534A>G c.706A>G (p.Asn236Asp) n.798A>G n.789A>G | |
| 11 | g.46726053A>T | CA380265346 | F2 | c.754A>T (p.Asn252Tyr) c.724A>T (p.Asn242Tyr) n.534A>T c.706A>T (p.Asn236Tyr) n.798A>T n.789A>T | |
| 11 | g.46726054A= | CA1969072201 | F2 | c.755A= (p.Asn252=) c.725A= (p.Asn242=) n.535A= c.707A= (p.Asn236=) n.799A= n.790A= | |
| 11 | g.46726054A>C | CA221652057 | F2 | c.755A>C (p.Asn252Thr) c.725A>C (p.Asn242Thr) n.535A>C c.707A>C (p.Asn236Thr) n.799A>C n.790A>C | dbSNP gnomAD v4 |
| 11 | g.46726054A>G | CA380265352 | F2 | c.755A>G (p.Asn252Ser) c.725A>G (p.Asn242Ser) n.535A>G c.707A>G (p.Asn236Ser) n.799A>G n.790A>G | COSMIC |
| 11 | g.46726054A>T | CA380265349 | F2 | c.755A>T (p.Asn252Ile) c.725A>T (p.Asn242Ile) n.535A>T c.707A>T (p.Asn236Ile) n.799A>T n.790A>T | |
| 11 | g.46726055C>A | CA380265355 | F2 | c.756C>A (p.Asn252Lys) c.726C>A (p.Asn242Lys) n.536C>A c.708C>A (p.Asn236Lys) n.800C>A n.791C>A | |
| 11 | g.46726055C>G | CA380265357 | F2 | c.756C>G (p.Asn252Lys) c.726C>G (p.Asn242Lys) n.536C>G c.708C>G (p.Asn236Lys) n.800C>G n.791C>G | |
| 11 | g.46726055C>T | CA474043757 | F2 | c.756C>T (p.Asn252=) c.726C>T (p.Asn242=) n.536C>T c.708C>T (p.Asn236=) n.800C>T n.791C>T | |
| 11 | g.46726056T>A | CA380265360 | F2 | c.757T>A (p.Ser253Thr) c.727T>A (p.Ser243Thr) n.537T>A c.709T>A (p.Ser237Thr) n.801T>A n.792T>A | |
| 11 | g.46726056T>C | CA380265361 | F2 | c.757T>C (p.Ser253Pro) c.727T>C (p.Ser243Pro) n.537T>C c.709T>C (p.Ser237Pro) n.801T>C n.792T>C | |
| 11 | g.46726056T>G | CA380265364 | F2 | c.757T>G (p.Ser253Ala) c.727T>G (p.Ser243Ala) n.537T>G c.709T>G (p.Ser237Ala) n.801T>G n.792T>G | |
| 11 | g.46726057C>A | CA380265368 | F2 | c.758C>A (p.Ser253Ter) c.728C>A (p.Ser243Ter) n.538C>A c.710C>A (p.Ser237Ter) n.802C>A n.793C>A | |
| 11 | g.46726057C>G | CA380265365 | F2 | c.758C>G (p.Ser253Ter) c.728C>G (p.Ser243Ter) n.538C>G c.710C>G (p.Ser237Ter) n.802C>G n.793C>G | |
| 11 | g.46726057C>T | CA380265366 | F2 | c.758C>T (p.Ser253Leu) c.728C>T (p.Ser243Leu) n.538C>T c.710C>T (p.Ser237Leu) n.802C>T n.793C>T | |
| 11 | g.46726058A= | CA1969072203 | F2 | c.759A= (p.Ser253=) c.729A= (p.Ser243=) n.539A= c.711A= (p.Ser237=) n.803A= n.794A= | |
| 11 | g.46726058A>C | CA474043758 | F2 | c.759A>C (p.Ser253=) c.729A>C (p.Ser243=) n.539A>C c.711A>C (p.Ser237=) n.803A>C n.794A>C | |
| 11 | g.46726058A>G | CA474043759 | F2 | c.759A>G (p.Ser253=) c.729A>G (p.Ser243=) n.539A>G c.711A>G (p.Ser237=) n.803A>G n.794A>G | |
| 11 | g.46726058A>T | CA221652058 | F2 | c.759A>T (p.Ser253=) c.729A>T (p.Ser243=) n.539A>T c.711A>T (p.Ser237=) n.803A>T n.794A>T | dbSNP gnomAD v4 |
| 11 | g.46726059G>A | CA380265372 | F2 | c.760G>A (p.Ala254Thr) c.730G>A (p.Ala244Thr) n.540G>A c.712G>A (p.Ala238Thr) n.804G>A n.795G>A | |
| 11 | g.46726059G>C | CA380265378 | F2 | c.760G>C (p.Ala254Pro) c.730G>C (p.Ala244Pro) n.540G>C c.712G>C (p.Ala238Pro) n.804G>C n.795G>C | gnomAD v4 |
| 11 | g.46726059G>T | CA380265380 | F2 | c.760G>T (p.Ala254Ser) c.730G>T (p.Ala244Ser) n.540G>T c.712G>T (p.Ala238Ser) n.804G>T n.795G>T | |
| 11 | g.46726060C>A | CA380265381 | F2 | c.761C>A (p.Ala254Asp) c.731C>A (p.Ala244Asp) n.541C>A c.713C>A (p.Ala238Asp) n.805C>A n.796C>A | |
| 11 | g.46726060C>G | CA380265385 | F2 | c.761C>G (p.Ala254Gly) c.731C>G (p.Ala244Gly) n.541C>G c.713C>G (p.Ala238Gly) n.805C>G n.796C>G | |
| 11 | g.46726060C>T | CA380265386 | F2 | c.761C>T (p.Ala254Val) c.731C>T (p.Ala244Val) n.541C>T c.713C>T (p.Ala238Val) n.805C>T n.796C>T | |
| 11 | g.46726061T>A | CA474043760 | F2 | c.762T>A (p.Ala254=) c.732T>A (p.Ala244=) n.542T>A c.714T>A (p.Ala238=) n.806T>A n.797T>A | |
| 11 | g.46726061T>C | CA474043761 | F2 | c.762T>C (p.Ala254=) c.732T>C (p.Ala244=) n.542T>C c.714T>C (p.Ala238=) n.806T>C n.797T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.46726061T>G | CA474043762 | F2 | c.762T>G (p.Ala254=) c.732T>G (p.Ala244=) n.542T>G c.714T>G (p.Ala238=) n.806T>G n.797T>G | |
| 11 | g.46726062G>A | CA5967047 | F2 | c.763G>A (p.Val255Met) c.733G>A (p.Val245Met) n.543G>A c.715G>A (p.Val239Met) n.807G>A n.798G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.46726062G>C | CA221652069 | F2 | c.763G>C (p.Val255Leu) c.733G>C (p.Val245Leu) n.543G>C c.715G>C (p.Val239Leu) n.807G>C n.798G>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.46726062G= | CA1969072205 | F2 | c.763G= (p.Val255=) c.733G= (p.Val245=) n.543G= c.715G= (p.Val239=) n.807G= n.798G= | |
| 11 | g.46726062G>T | CA380265387 | F2 | c.763G>T (p.Val255Leu) c.733G>T (p.Val245Leu) n.543G>T c.715G>T (p.Val239Leu) n.807G>T n.798G>T | |
| 11 | g.46726063T>A | CA380265396 | F2 | c.764T>A (p.Val255Glu) c.734T>A (p.Val245Glu) n.544T>A c.716T>A (p.Val239Glu) n.808T>A n.799T>A | |
| 11 | g.46726063T>C | CA380265400 | F2 | c.764T>C (p.Val255Ala) c.734T>C (p.Val245Ala) n.544T>C c.716T>C (p.Val239Ala) n.808T>C n.799T>C | |
| 11 | g.46726063T>G | CA380265403 | F2 | c.764T>G (p.Val255Gly) c.734T>G (p.Val245Gly) n.544T>G c.716T>G (p.Val239Gly) n.808T>G n.799T>G | |
| 11 | g.46726064G>A | CA474043763 | F2 | c.765G>A (p.Val255=) c.735G>A (p.Val245=) n.545G>A c.717G>A (p.Val239=) n.809G>A n.800G>A | |
| 11 | g.46726064G>C | CA474043764 | F2 | c.765G>C (p.Val255=) c.735G>C (p.Val245=) n.545G>C c.717G>C (p.Val239=) n.809G>C n.800G>C | |
| 11 | g.46726064G>T | CA474043765 | F2 | c.765G>T (p.Val255=) c.735G>T (p.Val245=) n.545G>T c.717G>T (p.Val239=) n.809G>T n.800G>T |