UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.44901548T>A | CA410476071 | ITGB2 | c.685A>T (p.Asn229Tyr) c.658A>T (p.Asn220Tyr) c.514A>T (p.Asn172Tyr) n.828A>T c.*512A>T (n.*512A>T) c.478A>T (p.Asn160Tyr) | |
| 21 | g.44901548T>C | CA410476072 | ITGB2 | c.685A>G (p.Asn229Asp) c.658A>G (p.Asn220Asp) c.514A>G (p.Asn172Asp) n.828A>G c.*512A>G (n.*512A>G) c.478A>G (p.Asn160Asp) | |
| 21 | g.44901548T>G | CA410476073 | ITGB2 | c.685A>C (p.Asn229His) c.658A>C (p.Asn220His) c.514A>C (p.Asn172His) n.828A>C c.*512A>C (n.*512A>C) c.478A>C (p.Asn160His) | |
| 21 | g.44901549T>A | CA512551686 | ITGB2 | c.684A>T (p.Gly228=) c.657A>T (p.Gly219=) c.513A>T (p.Gly171=) n.827A>T c.*511A>T (n.*511A>T) c.477A>T (p.Gly159=) | |
| 21 | g.44901549T>C | CA512551687 | ITGB2 | c.684A>G (p.Gly228=) c.657A>G (p.Gly219=) c.513A>G (p.Gly171=) n.827A>G c.*511A>G (n.*511A>G) c.477A>G (p.Gly159=) | |
| 21 | g.44901549T>G | CA512551688 | ITGB2 | c.684A>C (p.Gly228=) c.657A>C (p.Gly219=) c.513A>C (p.Gly171=) n.827A>C c.*511A>C (n.*511A>C) c.477A>C (p.Gly159=) | |
| 21 | g.44901550C>A | CA410476074 | ITGB2 | c.683G>T (p.Gly228Val) c.656G>T (p.Gly219Val) c.512G>T (p.Gly171Val) n.826G>T c.*510G>T (n.*510G>T) c.476G>T (p.Gly159Val) | |
| 21 | g.44901550C= | CA2391880203 | ITGB2 | c.683G= (p.Gly228=) c.656G= (p.Gly219=) c.512G= (p.Gly171=) n.826G= c.*510G= (n.*510G=) c.476G= (p.Gly159=) | |
| 21 | g.44901550C>G | CA321851387 | ITGB2 | c.683G>C (p.Gly228Ala) c.656G>C (p.Gly219Ala) c.512G>C (p.Gly171Ala) n.826G>C c.*510G>C (n.*510G>C) c.476G>C (p.Gly159Ala) | dbSNP |
| 21 | g.44901550C>T | CA410476075 | ITGB2 | c.683G>A (p.Gly228Glu) c.656G>A (p.Gly219Glu) c.512G>A (p.Gly171Glu) n.826G>A c.*510G>A (n.*510G>A) c.476G>A (p.Gly159Glu) | |
| 21 | g.44901551C>A | CA410476076 | ITGB2 | c.682G>T (p.Gly228Ter) c.655G>T (p.Gly219Ter) c.511G>T (p.Gly171Ter) n.825G>T n.563G>T c.*509G>T (n.*509G>T) c.475G>T (p.Gly159Ter) | |
| 21 | g.44901551C= | CA2391880204 | ITGB2 | c.682G= (p.Gly228=) c.655G= (p.Gly219=) c.511G= (p.Gly171=) n.825G= n.563G= c.*509G= (n.*509G=) c.475G= (p.Gly159=) | |
| 21 | g.44901551C>G | CA410476077 | ITGB2 | c.682G>C (p.Gly228Arg) c.655G>C (p.Gly219Arg) c.511G>C (p.Gly171Arg) n.825G>C n.563G>C c.*509G>C (n.*509G>C) c.475G>C (p.Gly159Arg) | |
| 21 | g.44901551C>T | CA410476078 | ITGB2 | c.682G>A (p.Gly228Arg) c.655G>A (p.Gly219Arg) c.511G>A (p.Gly171Arg) n.825G>A n.563G>A c.*509G>A (n.*509G>A) c.475G>A (p.Gly159Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.44901552G>A | CA10063132 | ITGB2 | c.681C>T (p.Ser227=) c.654C>T (p.Ser218=) c.510C>T (p.Ser170=) n.824C>T n.562C>T c.*508C>T (n.*508C>T) c.474C>T (p.Ser158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44901552G>C | CA512551690 | ITGB2 | c.681C>G (p.Ser227=) c.654C>G (p.Ser218=) c.510C>G (p.Ser170=) n.824C>G n.562C>G c.*508C>G (n.*508C>G) c.474C>G (p.Ser158=) | |
| 21 | g.44901552G= | CA2391880205 | ITGB2 | c.681C= (p.Ser227=) c.654C= (p.Ser218=) c.510C= (p.Ser170=) n.824C= n.562C= c.*508C= (n.*508C=) c.474C= (p.Ser158=) | |
| 21 | g.44901552G>T | CA512551689 | ITGB2 | c.681C>A (p.Ser227=) c.654C>A (p.Ser218=) c.510C>A (p.Ser170=) n.824C>A n.562C>A c.*508C>A (n.*508C>A) c.474C>A (p.Ser158=) | |
| 21 | g.44901553G>A | CA10063133 | ITGB2 | c.680C>T (p.Ser227Phe) c.653C>T (p.Ser218Phe) c.509C>T (p.Ser170Phe) n.823C>T n.561C>T c.*507C>T (n.*507C>T) c.473C>T (p.Ser158Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44901553G>C | CA410476079 | ITGB2 | c.680C>G (p.Ser227Cys) c.653C>G (p.Ser218Cys) c.509C>G (p.Ser170Cys) n.823C>G n.561C>G c.*507C>G (n.*507C>G) c.473C>G (p.Ser158Cys) | |
| 21 | g.44901553G= | CA2391880206 | ITGB2 | c.680C= (p.Ser227=) c.653C= (p.Ser218=) c.509C= (p.Ser170=) n.823C= n.561C= c.*507C= (n.*507C=) c.473C= (p.Ser158=) | |
| 21 | g.44901553G>T | CA410476080 | ITGB2 | c.680C>A (p.Ser227Tyr) c.653C>A (p.Ser218Tyr) c.509C>A (p.Ser170Tyr) n.823C>A n.561C>A c.*507C>A (n.*507C>A) c.473C>A (p.Ser158Tyr) | |
| 21 | g.44901554A>C | CA410476081 | ITGB2 | c.679T>G (p.Ser227Ala) c.652T>G (p.Ser218Ala) c.508T>G (p.Ser170Ala) n.822T>G n.560T>G c.*506T>G (n.*506T>G) c.472T>G (p.Ser158Ala) | |
| 21 | g.44901554A>G | CA410476082 | ITGB2 | c.679T>C (p.Ser227Pro) c.652T>C (p.Ser218Pro) c.508T>C (p.Ser170Pro) n.822T>C n.560T>C c.*506T>C (n.*506T>C) c.472T>C (p.Ser158Pro) | |
| 21 | g.44901554A>T | CA410476083 | ITGB2 | c.679T>A (p.Ser227Thr) c.652T>A (p.Ser218Thr) c.508T>A (p.Ser170Thr) n.822T>A n.560T>A c.*506T>A (n.*506T>A) c.472T>A (p.Ser158Thr) | |
| 21 | g.44901555A>C | CA410476084 | ITGB2 | c.678T>G (p.Ile226Met) c.651T>G (p.Ile217Met) c.507T>G (p.Ile169Met) n.821T>G n.559T>G c.*505T>G (n.*505T>G) c.471T>G (p.Ile157Met) | |
| 21 | g.44901555A>G | CA512551691 | ITGB2 | c.678T>C (p.Ile226=) c.651T>C (p.Ile217=) c.507T>C (p.Ile169=) n.821T>C n.559T>C c.*505T>C (n.*505T>C) c.471T>C (p.Ile157=) | |
| 21 | g.44901555A>T | CA512551692 | ITGB2 | c.678T>A (p.Ile226=) c.651T>A (p.Ile217=) c.507T>A (p.Ile169=) n.821T>A n.559T>A c.*505T>A (n.*505T>A) c.471T>A (p.Ile157=) | |
| 21 | g.44901556A>C | CA410476085 | ITGB2 | c.677T>G (p.Ile226Ser) c.650T>G (p.Ile217Ser) c.506T>G (p.Ile169Ser) n.820T>G n.558T>G c.*504T>G (n.*504T>G) c.470T>G (p.Ile157Ser) | |
| 21 | g.44901556A>G | CA410476086 | ITGB2 | c.677T>C (p.Ile226Thr) c.650T>C (p.Ile217Thr) c.506T>C (p.Ile169Thr) n.820T>C n.558T>C c.*504T>C (n.*504T>C) c.470T>C (p.Ile157Thr) | |
| 21 | g.44901556A>T | CA410476087 | ITGB2 | c.677T>A (p.Ile226Asn) c.650T>A (p.Ile217Asn) c.506T>A (p.Ile169Asn) n.820T>A n.558T>A c.*504T>A (n.*504T>A) c.470T>A (p.Ile157Asn) | |
| 21 | g.44901557T>A | CA410476088 | ITGB2 | c.676A>T (p.Ile226Phe) c.649A>T (p.Ile217Phe) c.505A>T (p.Ile169Phe) n.819A>T n.557A>T c.*503A>T (n.*503A>T) c.469A>T (p.Ile157Phe) | |
| 21 | g.44901557T>C | CA410476089 | ITGB2 | c.676A>G (p.Ile226Val) c.649A>G (p.Ile217Val) c.505A>G (p.Ile169Val) n.819A>G n.557A>G c.*503A>G (n.*503A>G) c.469A>G (p.Ile157Val) | gnomAD v4 |
| 21 | g.44901557T>G | CA410476090 | ITGB2 | c.676A>C (p.Ile226Leu) c.649A>C (p.Ile217Leu) c.505A>C (p.Ile169Leu) n.819A>C n.557A>C c.*503A>C (n.*503A>C) c.469A>C (p.Ile157Leu) | |
| 21 | g.44901558C>A | CA512551693 | ITGB2 | c.675G>T (p.Leu225=) c.648G>T (p.Leu216=) c.504G>T (p.Leu168=) n.818G>T n.556G>T c.*502G>T (n.*502G>T) c.468G>T (p.Leu156=) | |
| 21 | g.44901558C>G | CA512551694 | ITGB2 | c.675G>C (p.Leu225=) c.648G>C (p.Leu216=) c.504G>C (p.Leu168=) n.818G>C n.556G>C c.*502G>C (n.*502G>C) c.468G>C (p.Leu156=) | |
| 21 | g.44901558C>T | CA512551695 | ITGB2 | c.675G>A (p.Leu225=) c.648G>A (p.Leu216=) c.504G>A (p.Leu168=) n.818G>A n.556G>A c.*502G>A (n.*502G>A) c.468G>A (p.Leu156=) | gnomAD v4 |
| 21 | g.44901559A>C | CA410476091 | ITGB2 | c.674T>G (p.Leu225Arg) c.647T>G (p.Leu216Arg) c.503T>G (p.Leu168Arg) n.817T>G n.555T>G c.*501T>G (n.*501T>G) c.467T>G (p.Leu156Arg) | |
| 21 | g.44901559A>G | CA410476093 | ITGB2 | c.674T>C (p.Leu225Pro) c.647T>C (p.Leu216Pro) c.503T>C (p.Leu168Pro) n.817T>C n.555T>C c.*501T>C (n.*501T>C) c.467T>C (p.Leu156Pro) | |
| 21 | g.44901559A>T | CA410476092 | ITGB2 | c.674T>A (p.Leu225Gln) c.647T>A (p.Leu216Gln) c.503T>A (p.Leu168Gln) n.817T>A n.555T>A c.*501T>A (n.*501T>A) c.467T>A (p.Leu156Gln) | |
| 21 | g.44901560G>A | CA512551696 | ITGB2 | c.673C>T (p.Leu225=) c.646C>T (p.Leu216=) c.502C>T (p.Leu168=) n.816C>T n.554C>T c.*500C>T (n.*500C>T) c.466C>T (p.Leu156=) | |
| 21 | g.44901560G>C | CA410476094 | ITGB2 | c.673C>G (p.Leu225Val) c.646C>G (p.Leu216Val) c.502C>G (p.Leu168Val) n.816C>G n.554C>G c.*500C>G (n.*500C>G) c.466C>G (p.Leu156Val) | |
| 21 | g.44901560G>T | CA410476095 | ITGB2 | c.673C>A (p.Leu225Met) c.646C>A (p.Leu216Met) c.502C>A (p.Leu168Met) n.816C>A n.554C>A c.*500C>A (n.*500C>A) c.466C>A (p.Leu156Met) | |
| 21 | g.44901561C>A | CA410476096 | ITGB2 | c.672G>T (p.Gln224His) c.645G>T (p.Gln215His) c.501G>T (p.Gln167His) n.815G>T n.553G>T c.*499G>T (n.*499G>T) c.465G>T (p.Gln155His) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.44901561C= | CA2391880207 | ITGB2 | c.672G= (p.Gln224=) c.645G= (p.Gln215=) c.501G= (p.Gln167=) n.815G= n.553G= c.*499G= (n.*499G=) c.465G= (p.Gln155=) | |
| 21 | g.44901561C>G | CA410476097 | ITGB2 | c.672G>C (p.Gln224His) c.645G>C (p.Gln215His) c.501G>C (p.Gln167His) n.815G>C n.553G>C c.*499G>C (n.*499G>C) c.465G>C (p.Gln155His) | dbSNP |
| 21 | g.44901561C>T | CA512551697 | ITGB2 | c.672G>A (p.Gln224=) c.645G>A (p.Gln215=) c.501G>A (p.Gln167=) n.815G>A n.553G>A c.*499G>A (n.*499G>A) c.465G>A (p.Gln155=) | dbSNP gnomAD v4 |
| 21 | g.44901562T>A | CA410476098 | ITGB2 | c.671A>T (p.Gln224Leu) c.644A>T (p.Gln215Leu) c.500A>T (p.Gln167Leu) n.814A>T n.552A>T c.*498A>T (n.*498A>T) c.464A>T (p.Gln155Leu) | |
| 21 | g.44901562T>C | CA410476099 | ITGB2 | c.671A>G (p.Gln224Arg) c.644A>G (p.Gln215Arg) c.500A>G (p.Gln167Arg) n.814A>G n.552A>G c.*498A>G (n.*498A>G) c.464A>G (p.Gln155Arg) | |
| 21 | g.44901562T>G | CA410476100 | ITGB2 | c.671A>C (p.Gln224Pro) c.644A>C (p.Gln215Pro) c.500A>C (p.Gln167Pro) n.814A>C n.552A>C c.*498A>C (n.*498A>C) c.464A>C (p.Gln155Pro) | |
| 21 | g.44901563G>A | CA410476101 | ITGB2 | c.670C>T (p.Gln224Ter) c.643C>T (p.Gln215Ter) c.499C>T (p.Gln167Ter) n.813C>T n.551C>T c.*497C>T (n.*497C>T) c.463C>T (p.Gln155Ter) | |
| 21 | g.44901563G>C | CA410476102 | ITGB2 | c.670C>G (p.Gln224Glu) c.643C>G (p.Gln215Glu) c.499C>G (p.Gln167Glu) n.813C>G n.551C>G c.*497C>G (n.*497C>G) c.463C>G (p.Gln155Glu) | |
| 21 | g.44901563G>T | CA410476103 | ITGB2 | c.670C>A (p.Gln224Lys) c.643C>A (p.Gln215Lys) c.499C>A (p.Gln167Lys) n.813C>A n.551C>A c.*497C>A (n.*497C>A) c.463C>A (p.Gln155Lys) | |
| 21 | g.44901564_44901570dup | CA2654867296 | ITGB2 | c.664_670dup (p.Gln224ArgfsTer?) c.637_643dup (p.Gln215ArgfsTer?) c.493_499dup (p.Gln167ArgfsTer?) n.807_813dup n.545_551dup c.*491_*497dup (n.*491_*497dup) c.457_463dup (p.Gln155ArgfsTer?) | gnomAD v4 |
| 21 | g.44901564C>A | CA410476104 | ITGB2 | c.669G>T (p.Lys223Asn) c.642G>T (p.Lys214Asn) c.498G>T (p.Lys166Asn) n.812G>T n.550G>T c.*496G>T (n.*496G>T) c.462G>T (p.Lys154Asn) | |
| 21 | g.44901564C= | CA2391880208 | ITGB2 | c.669G= (p.Lys223=) c.642G= (p.Lys214=) c.498G= (p.Lys166=) n.812G= n.550G= c.*496G= (n.*496G=) c.462G= (p.Lys154=) | |
| 21 | g.44901564C>G | CA410476105 | ITGB2 | c.669G>C (p.Lys223Asn) c.642G>C (p.Lys214Asn) c.498G>C (p.Lys166Asn) n.812G>C n.550G>C c.*496G>C (n.*496G>C) c.462G>C (p.Lys154Asn) | |
| 21 | g.44901564C>T | CA512551698 | ITGB2 | c.669G>A (p.Lys223=) c.642G>A (p.Lys214=) c.498G>A (p.Lys166=) n.812G>A n.550G>A c.*496G>A (n.*496G>A) c.462G>A (p.Lys154=) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44901565T>A | CA410476108 | ITGB2 | c.668A>T (p.Lys223Met) c.641A>T (p.Lys214Met) c.497A>T (p.Lys166Met) n.811A>T n.549A>T c.*495A>T (n.*495A>T) c.461A>T (p.Lys154Met) | |
| 21 | g.44901565T>C | CA410476106 | ITGB2 | c.668A>G (p.Lys223Arg) c.641A>G (p.Lys214Arg) c.497A>G (p.Lys166Arg) n.811A>G n.549A>G c.*495A>G (n.*495A>G) c.461A>G (p.Lys154Arg) | |
| 21 | g.44901565T>G | CA410476107 | ITGB2 | c.668A>C (p.Lys223Thr) c.641A>C (p.Lys214Thr) c.497A>C (p.Lys166Thr) n.811A>C n.549A>C c.*495A>C (n.*495A>C) c.461A>C (p.Lys154Thr) | |
| 21 | g.44901565T= | CA2391880209 | ITGB2 | c.668A= (p.Lys223=) c.641A= (p.Lys214=) c.497A= (p.Lys166=) n.811A= n.549A= c.*495A= (n.*495A=) c.461A= (p.Lys154=) | |
| 21 | g.44901566T>A | CA410476109 | ITGB2 | c.667A>T (p.Lys223Ter) c.640A>T (p.Lys214Ter) c.496A>T (p.Lys166Ter) n.810A>T n.548A>T c.*494A>T (n.*494A>T) c.460A>T (p.Lys154Ter) | |
| 21 | g.44901566T>C | CA410476110 | ITGB2 | c.667A>G (p.Lys223Glu) c.640A>G (p.Lys214Glu) c.496A>G (p.Lys166Glu) n.810A>G n.548A>G c.*494A>G (n.*494A>G) c.460A>G (p.Lys154Glu) | |
| 21 | g.44901566T>G | CA410476111 | ITGB2 | c.667A>C (p.Lys223Gln) c.640A>C (p.Lys214Gln) c.496A>C (p.Lys166Gln) n.810A>C n.548A>C c.*494A>C (n.*494A>C) c.460A>C (p.Lys154Gln) | |
| 21 | g.44901566_44901568dup | CA10063134 | ITGB2 | c.665_667dup (p.Gly222_Lys223insArg) c.638_640dup (p.Gly213_Lys214insArg) c.494_496dup (p.Gly165_Lys166insArg) n.808_810dup n.546_548dup c.*492_*494dup (n.*492_*494dup) c.458_460dup (p.Gly153_Lys154insArg) | dbSNP ExAC |
| 21 | g.44901567C>A | CA512551700 | ITGB2 | c.666G>T (p.Gly222=) c.639G>T (p.Gly213=) c.495G>T (p.Gly165=) n.809G>T n.547G>T c.*493G>T (n.*493G>T) c.459G>T (p.Gly153=) | |
| 21 | g.44901567C= | CA2391880210 | ITGB2 | c.666G= (p.Gly222=) c.639G= (p.Gly213=) c.495G= (p.Gly165=) n.809G= n.547G= c.*493G= (n.*493G=) c.459G= (p.Gly153=) | |
| 21 | g.44901567C>G | CA512551699 | ITGB2 | c.666G>C (p.Gly222=) c.639G>C (p.Gly213=) c.495G>C (p.Gly165=) n.809G>C n.547G>C c.*493G>C (n.*493G>C) c.459G>C (p.Gly153=) | dbSNP |
| 21 | g.44901567C>T | CA321851394 | ITGB2 | c.666G>A (p.Gly222=) c.639G>A (p.Gly213=) c.495G>A (p.Gly165=) n.809G>A n.547G>A c.*493G>A (n.*493G>A) c.459G>A (p.Gly153=) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44901568C>A | CA410476112 | ITGB2 | c.665G>T (p.Gly222Val) c.638G>T (p.Gly213Val) c.494G>T (p.Gly165Val) n.808G>T n.546G>T c.*492G>T (n.*492G>T) c.458G>T (p.Gly153Val) | |
| 21 | g.44901568C>G | CA410476113 | ITGB2 | c.665G>C (p.Gly222Ala) c.638G>C (p.Gly213Ala) c.494G>C (p.Gly165Ala) n.808G>C n.546G>C c.*492G>C (n.*492G>C) c.458G>C (p.Gly153Ala) | |
| 21 | g.44901568C>T | CA410476114 | ITGB2 | c.665G>A (p.Gly222Glu) c.638G>A (p.Gly213Glu) c.494G>A (p.Gly165Glu) n.808G>A n.546G>A c.*492G>A (n.*492G>A) c.458G>A (p.Gly153Glu) | |
| 21 | g.44901569C>A | CA410476115 | ITGB2 | c.664G>T (p.Gly222Trp) c.637G>T (p.Gly213Trp) c.493G>T (p.Gly165Trp) n.807G>T n.545G>T c.*491G>T (n.*491G>T) c.457G>T (p.Gly153Trp) | |
| 21 | g.44901569C= | CA2391880211 | ITGB2 | c.664G= (p.Gly222=) c.637G= (p.Gly213=) c.493G= (p.Gly165=) n.807G= n.545G= c.*491G= (n.*491G=) c.457G= (p.Gly153=) | |
| 21 | g.44901569C>G | CA410476116 | ITGB2 | c.664G>C (p.Gly222Arg) c.637G>C (p.Gly213Arg) c.493G>C (p.Gly165Arg) n.807G>C n.545G>C c.*491G>C (n.*491G>C) c.457G>C (p.Gly153Arg) | |
| 21 | g.44901569C>T | CA10063135 | ITGB2 | c.664G>A (p.Gly222Arg) c.637G>A (p.Gly213Arg) c.493G>A (p.Gly165Arg) n.807G>A n.545G>A c.*491G>A (n.*491G>A) c.457G>A (p.Gly153Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44901570G>A | CA10063136 | ITGB2 | c.663C>T (p.Val221=) c.636C>T (p.Val212=) c.492C>T (p.Val164=) n.806C>T n.544C>T c.*490C>T (n.*490C>T) c.456C>T (p.Val152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.44901570G>C | CA512551701 | ITGB2 | c.663C>G (p.Val221=) c.636C>G (p.Val212=) c.492C>G (p.Val164=) n.806C>G n.544C>G c.*490C>G (n.*490C>G) c.456C>G (p.Val152=) | |
| 21 | g.44901570G= | CA2391880212 | ITGB2 | c.663C= (p.Val221=) c.636C= (p.Val212=) c.492C= (p.Val164=) n.806C= n.544C= c.*490C= (n.*490C=) c.456C= (p.Val152=) | |
| 21 | g.44901570G>T | CA512551702 | ITGB2 | c.663C>A (p.Val221=) c.636C>A (p.Val212=) c.492C>A (p.Val164=) n.806C>A n.544C>A c.*490C>A (n.*490C>A) c.456C>A (p.Val152=) | |
| 21 | g.44901571A= | CA2391880213 | ITGB2 | c.662T= (p.Val221=) c.635T= (p.Val212=) c.491T= (p.Val164=) n.805T= n.543T= c.*489T= (n.*489T=) c.455T= (p.Val152=) | |
| 21 | g.44901571A>C | CA410476118 | ITGB2 | c.662T>G (p.Val221Gly) c.635T>G (p.Val212Gly) c.491T>G (p.Val164Gly) n.805T>G n.543T>G c.*489T>G (n.*489T>G) c.455T>G (p.Val152Gly) | |
| 21 | g.44901571A>G | CA10063137 | ITGB2 | c.662T>C (p.Val221Ala) c.635T>C (p.Val212Ala) c.491T>C (p.Val164Ala) n.805T>C n.543T>C c.*489T>C (n.*489T>C) c.455T>C (p.Val152Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44901571A>T | CA410476117 | ITGB2 | c.662T>A (p.Val221Asp) c.635T>A (p.Val212Asp) c.491T>A (p.Val164Asp) n.805T>A n.543T>A c.*489T>A (n.*489T>A) c.455T>A (p.Val152Asp) | ClinVar |
| 21 | g.44901572C>A | CA410476121 | ITGB2 | c.661G>T (p.Val221Phe) c.634G>T (p.Val212Phe) c.490G>T (p.Val164Phe) n.804G>T n.542G>T c.*488G>T (n.*488G>T) c.454G>T (p.Val152Phe) | |
| 21 | g.44901572C>G | CA410476119 | ITGB2 | c.661G>C (p.Val221Leu) c.634G>C (p.Val212Leu) c.490G>C (p.Val164Leu) n.804G>C n.542G>C c.*488G>C (n.*488G>C) c.454G>C (p.Val152Leu) | |
| 21 | g.44901572C>T | CA410476120 | ITGB2 | c.661G>A (p.Val221Ile) c.634G>A (p.Val212Ile) c.490G>A (p.Val164Ile) n.804G>A n.542G>A c.*488G>A (n.*488G>A) c.454G>A (p.Val152Ile) | |
| 21 | g.44901573C>A | CA410476122 | ITGB2 | c.660G>T (p.Glu220Asp) c.633G>T (p.Glu211Asp) c.489G>T (p.Glu163Asp) n.803G>T n.541G>T c.*487G>T (n.*487G>T) c.453G>T (p.Glu151Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44901573C= | CA2391880214 | ITGB2 | c.660G= (p.Glu220=) c.633G= (p.Glu211=) c.489G= (p.Glu163=) n.803G= n.541G= c.*487G= (n.*487G=) c.453G= (p.Glu151=) | |
| 21 | g.44901573C>G | CA410476123 | ITGB2 | c.660G>C (p.Glu220Asp) c.633G>C (p.Glu211Asp) c.489G>C (p.Glu163Asp) n.803G>C n.541G>C c.*487G>C (n.*487G>C) c.453G>C (p.Glu151Asp) | |
| 21 | g.44901573C>T | CA512551703 | ITGB2 | c.660G>A (p.Glu220=) c.633G>A (p.Glu211=) c.489G>A (p.Glu163=) n.803G>A n.541G>A c.*487G>A (n.*487G>A) c.453G>A (p.Glu151=) | dbSNP gnomAD v4 |
| 21 | g.44901574T>A | CA410476124 | ITGB2 | c.659A>T (p.Glu220Val) c.632A>T (p.Glu211Val) c.488A>T (p.Glu163Val) n.802A>T n.540A>T c.*486A>T (n.*486A>T) c.452A>T (p.Glu151Val) | |
| 21 | g.44901574T>C | CA410476125 | ITGB2 | c.659A>G (p.Glu220Gly) c.632A>G (p.Glu211Gly) c.488A>G (p.Glu163Gly) n.802A>G n.540A>G c.*486A>G (n.*486A>G) c.452A>G (p.Glu151Gly) | |
| 21 | g.44901574T>G | CA410476126 | ITGB2 | c.659A>C (p.Glu220Ala) c.632A>C (p.Glu211Ala) c.488A>C (p.Glu163Ala) n.802A>C n.540A>C c.*486A>C (n.*486A>C) c.452A>C (p.Glu151Ala) | COSMIC |
| 21 | g.44901575C>A | CA410476127 | ITGB2 | c.658G>T (p.Glu220Ter) c.631G>T (p.Glu211Ter) c.487G>T (p.Glu163Ter) n.801G>T n.539G>T c.*485G>T (n.*485G>T) c.451G>T (p.Glu151Ter) | gnomAD v4 |
| 21 | g.44901575C= | CA2391880215 | ITGB2 | c.658G= (p.Glu220=) c.631G= (p.Glu211=) c.487G= (p.Glu163=) n.801G= n.539G= c.*485G= (n.*485G=) c.451G= (p.Glu151=) | |
| 21 | g.44901575C>G | CA10063139 | ITGB2 | c.658G>C (p.Glu220Gln) c.631G>C (p.Glu211Gln) c.487G>C (p.Glu163Gln) n.801G>C n.539G>C c.*485G>C (n.*485G>C) c.451G>C (p.Glu151Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 21 | g.44901575C>T | CA10063138 | ITGB2 | c.658G>A (p.Glu220Lys) c.631G>A (p.Glu211Lys) c.487G>A (p.Glu163Lys) n.801G>A n.539G>A c.*485G>A (n.*485G>A) c.451G>A (p.Glu151Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44901576G>A | CA10063140 | ITGB2 | c.657C>T (p.Thr219=) c.630C>T (p.Thr210=) c.486C>T (p.Thr162=) n.800C>T n.538C>T c.*484C>T (n.*484C>T) c.450C>T (p.Thr150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44901576G>C | CA512551705 | ITGB2 | c.657C>G (p.Thr219=) c.630C>G (p.Thr210=) c.486C>G (p.Thr162=) n.800C>G n.538C>G c.*484C>G (n.*484C>G) c.450C>G (p.Thr150=) | gnomAD v4 |
| 21 | g.44901576G= | CA2391880216 | ITGB2 | c.657C= (p.Thr219=) c.630C= (p.Thr210=) c.486C= (p.Thr162=) n.800C= n.538C= c.*484C= (n.*484C=) c.450C= (p.Thr150=) | |
| 21 | g.44901576G>T | CA512551704 | ITGB2 | c.657C>A (p.Thr219=) c.630C>A (p.Thr210=) c.486C>A (p.Thr162=) n.800C>A n.538C>A c.*484C>A (n.*484C>A) c.450C>A (p.Thr150=) | dbSNP gnomAD v4 |
| 21 | g.44901577G>A | CA410476130 | ITGB2 | c.656C>T (p.Thr219Ile) c.629C>T (p.Thr210Ile) c.485C>T (p.Thr162Ile) n.799C>T n.537C>T c.*483C>T (n.*483C>T) c.449C>T (p.Thr150Ile) | gnomAD v4 |
| 21 | g.44901577G>C | CA410476129 | ITGB2 | c.656C>G (p.Thr219Ser) c.629C>G (p.Thr210Ser) c.485C>G (p.Thr162Ser) n.799C>G n.537C>G c.*483C>G (n.*483C>G) c.449C>G (p.Thr150Ser) | |
| 21 | g.44901577G>T | CA410476128 | ITGB2 | c.656C>A (p.Thr219Asn) c.629C>A (p.Thr210Asn) c.485C>A (p.Thr162Asn) n.799C>A n.537C>A c.*483C>A (n.*483C>A) c.449C>A (p.Thr150Asn) | |
| 21 | g.44901578T>A | CA410476131 | ITGB2 | c.655A>T (p.Thr219Ser) c.628A>T (p.Thr210Ser) c.484A>T (p.Thr162Ser) n.798A>T n.536A>T c.*482A>T (n.*482A>T) c.448A>T (p.Thr150Ser) | |
| 21 | g.44901578T>C | CA410476132 | ITGB2 | c.655A>G (p.Thr219Ala) c.628A>G (p.Thr210Ala) c.484A>G (p.Thr162Ala) n.798A>G n.536A>G c.*482A>G (n.*482A>G) c.448A>G (p.Thr150Ala) | gnomAD v4 |
| 21 | g.44901578T>G | CA410476133 | ITGB2 | c.655A>C (p.Thr219Pro) c.628A>C (p.Thr210Pro) c.484A>C (p.Thr162Pro) n.798A>C n.536A>C c.*482A>C (n.*482A>C) c.448A>C (p.Thr150Pro) | |
| 21 | g.44901579C>A | CA410476134 | ITGB2 | c.654G>T (p.Gln218His) c.627G>T (p.Gln209His) c.483G>T (p.Gln161His) n.797G>T n.535G>T c.*481G>T (n.*481G>T) c.447G>T (p.Gln149His) | |
| 21 | g.44901579C= | CA2391880217 | ITGB2 | c.654G= (p.Gln218=) c.627G= (p.Gln209=) c.483G= (p.Gln161=) n.797G= n.535G= c.*481G= (n.*481G=) c.447G= (p.Gln149=) | |
| 21 | g.44901579C>G | CA410476135 | ITGB2 | c.654G>C (p.Gln218His) c.627G>C (p.Gln209His) c.483G>C (p.Gln161His) n.797G>C n.535G>C c.*481G>C (n.*481G>C) c.447G>C (p.Gln149His) | dbSNP |
| 21 | g.44901579C>T | CA512551706 | ITGB2 | c.654G>A (p.Gln218=) c.627G>A (p.Gln209=) c.483G>A (p.Gln161=) n.797G>A n.535G>A c.*481G>A (n.*481G>A) c.447G>A (p.Gln149=) | |
| 21 | g.44901580T>A | CA410476136 | ITGB2 | c.653A>T (p.Gln218Leu) c.626A>T (p.Gln209Leu) c.482A>T (p.Gln161Leu) n.796A>T n.534A>T c.*480A>T (n.*480A>T) c.446A>T (p.Gln149Leu) | |
| 21 | g.44901580T>C | CA410476137 | ITGB2 | c.653A>G (p.Gln218Arg) c.626A>G (p.Gln209Arg) c.482A>G (p.Gln161Arg) n.796A>G n.534A>G c.*480A>G (n.*480A>G) c.446A>G (p.Gln149Arg) | |
| 21 | g.44901580T>G | CA410476138 | ITGB2 | c.653A>C (p.Gln218Pro) c.626A>C (p.Gln209Pro) c.482A>C (p.Gln161Pro) n.796A>C n.534A>C c.*480A>C (n.*480A>C) c.446A>C (p.Gln149Pro) | |
| 21 | g.44901581G>A | CA410476139 | ITGB2 | c.652C>T (p.Gln218Ter) c.625C>T (p.Gln209Ter) c.481C>T (p.Gln161Ter) n.795C>T n.533C>T c.*479C>T (n.*479C>T) c.445C>T (p.Gln149Ter) | |
| 21 | g.44901581G>C | CA410476140 | ITGB2 | c.652C>G (p.Gln218Glu) c.625C>G (p.Gln209Glu) c.481C>G (p.Gln161Glu) n.795C>G n.533C>G c.*479C>G (n.*479C>G) c.445C>G (p.Gln149Glu) | |
| 21 | g.44901581G>T | CA410476141 | ITGB2 | c.652C>A (p.Gln218Lys) c.625C>A (p.Gln209Lys) c.481C>A (p.Gln161Lys) n.795C>A n.533C>A c.*479C>A (n.*479C>A) c.445C>A (p.Gln149Lys) | |
| 21 | g.44901582A>C | CA410476142 | ITGB2 | c.651T>G (p.Phe217Leu) c.624T>G (p.Phe208Leu) c.480T>G (p.Phe160Leu) n.794T>G n.532T>G c.*478T>G (n.*478T>G) c.444T>G (p.Phe148Leu) | |
| 21 | g.44901582A>G | CA512551707 | ITGB2 | c.651T>C (p.Phe217=) c.624T>C (p.Phe208=) c.480T>C (p.Phe160=) n.794T>C n.532T>C c.*478T>C (n.*478T>C) c.444T>C (p.Phe148=) | |
| 21 | g.44901582A>T | CA410476143 | ITGB2 | c.651T>A (p.Phe217Leu) c.624T>A (p.Phe208Leu) c.480T>A (p.Phe160Leu) n.794T>A n.532T>A c.*478T>A (n.*478T>A) c.444T>A (p.Phe148Leu) | |
| 21 | g.44901583A>C | CA410476146 | ITGB2 | c.650T>G (p.Phe217Cys) c.623T>G (p.Phe208Cys) c.479T>G (p.Phe160Cys) n.793T>G n.531T>G c.*477T>G (n.*477T>G) c.443T>G (p.Phe148Cys) | |
| 21 | g.44901583A>G | CA410476145 | ITGB2 | c.650T>C (p.Phe217Ser) c.623T>C (p.Phe208Ser) c.479T>C (p.Phe160Ser) n.793T>C n.531T>C c.*477T>C (n.*477T>C) c.443T>C (p.Phe148Ser) | |
| 21 | g.44901583A>T | CA410476144 | ITGB2 | c.650T>A (p.Phe217Tyr) c.623T>A (p.Phe208Tyr) c.479T>A (p.Phe160Tyr) n.793T>A n.531T>A c.*477T>A (n.*477T>A) c.443T>A (p.Phe148Tyr) | |
| 21 | g.44901584A>C | CA410476149 | ITGB2 | c.649T>G (p.Phe217Val) c.622T>G (p.Phe208Val) c.478T>G (p.Phe160Val) n.792T>G n.530T>G c.*476T>G (n.*476T>G) c.442T>G (p.Phe148Val) | |
| 21 | g.44901584A>G | CA410476147 | ITGB2 | c.649T>C (p.Phe217Leu) c.622T>C (p.Phe208Leu) c.478T>C (p.Phe160Leu) n.792T>C n.530T>C c.*476T>C (n.*476T>C) c.442T>C (p.Phe148Leu) | |
| 21 | g.44901584A>T | CA410476148 | ITGB2 | c.649T>A (p.Phe217Ile) c.622T>A (p.Phe208Ile) c.478T>A (p.Phe160Ile) n.792T>A n.530T>A c.*476T>A (n.*476T>A) c.442T>A (p.Phe148Ile) | |
| 21 | g.44901585C>A | CA410476150 | ITGB2 | c.648G>T (p.Gln216His) c.621G>T (p.Gln207His) c.477G>T (p.Gln159His) n.791G>T n.529G>T c.*475G>T (n.*475G>T) c.441G>T (p.Gln147His) | |
| 21 | g.44901585C>G | CA410476151 | ITGB2 | c.648G>C (p.Gln216His) c.621G>C (p.Gln207His) c.477G>C (p.Gln159His) n.791G>C n.529G>C c.*475G>C (n.*475G>C) c.441G>C (p.Gln147His) | |
| 21 | g.44901585C>T | CA512551708 | ITGB2 | c.648G>A (p.Gln216=) c.621G>A (p.Gln207=) c.477G>A (p.Gln159=) n.791G>A n.529G>A c.*475G>A (n.*475G>A) c.441G>A (p.Gln147=) | gnomAD v4 |
| 21 | g.44901586T>A | CA410476152 | ITGB2 | c.647A>T (p.Gln216Leu) c.620A>T (p.Gln207Leu) c.476A>T (p.Gln159Leu) n.790A>T n.528A>T c.*474A>T (n.*474A>T) c.440A>T (p.Gln147Leu) | gnomAD v4 |
| 21 | g.44901586T>C | CA10063141 | ITGB2 | c.647A>G (p.Gln216Arg) c.620A>G (p.Gln207Arg) c.476A>G (p.Gln159Arg) n.790A>G n.528A>G c.*474A>G (n.*474A>G) c.440A>G (p.Gln147Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44901586T>G | CA410476153 | ITGB2 | c.647A>C (p.Gln216Pro) c.620A>C (p.Gln207Pro) c.476A>C (p.Gln159Pro) n.790A>C n.528A>C c.*474A>C (n.*474A>C) c.440A>C (p.Gln147Pro) | |
| 21 | g.44901586T= | CA2391880218 | ITGB2 | c.647A= (p.Gln216=) c.620A= (p.Gln207=) c.476A= (p.Gln159=) n.790A= n.528A= c.*474A= (n.*474A=) c.440A= (p.Gln147=) | |
| 21 | g.44901587G>A | CA410476154 | ITGB2 | c.646C>T (p.Gln216Ter) c.619C>T (p.Gln207Ter) c.475C>T (p.Gln159Ter) n.789C>T n.527C>T c.*473C>T (n.*473C>T) c.439C>T (p.Gln147Ter) | |
| 21 | g.44901587G>C | CA321851403 | ITGB2 | c.646C>G (p.Gln216Glu) c.619C>G (p.Gln207Glu) c.475C>G (p.Gln159Glu) n.789C>G n.527C>G c.*473C>G (n.*473C>G) c.439C>G (p.Gln147Glu) | ClinVar dbSNP gnomAD v4 |
| 21 | g.44901587G= | CA2391880219 | ITGB2 | c.646C= (p.Gln216=) c.619C= (p.Gln207=) c.475C= (p.Gln159=) n.789C= n.527C= c.*473C= (n.*473C=) c.439C= (p.Gln147=) | |
| 21 | g.44901587G>T | CA410476155 | ITGB2 | c.646C>A (p.Gln216Lys) c.619C>A (p.Gln207Lys) c.475C>A (p.Gln159Lys) n.789C>A n.527C>A c.*473C>A (n.*473C>A) c.439C>A (p.Gln147Lys) | |
| 21 | g.44901588G>A | CA512551710 | ITGB2 | c.645C>T (p.Asn215=) c.618C>T (p.Asn206=) c.474C>T (p.Asn158=) n.788C>T n.526C>T c.*472C>T (n.*472C>T) c.438C>T (p.Asn146=) | |
| 21 | g.44901588G>C | CA410476156 | ITGB2 | c.645C>G (p.Asn215Lys) c.618C>G (p.Asn206Lys) c.474C>G (p.Asn158Lys) n.788C>G n.526C>G c.*472C>G (n.*472C>G) c.438C>G (p.Asn146Lys) | COSMIC |
| 21 | g.44901588G>T | CA410476157 | ITGB2 | c.645C>A (p.Asn215Lys) c.618C>A (p.Asn206Lys) c.474C>A (p.Asn158Lys) n.788C>A n.526C>A c.*472C>A (n.*472C>A) c.438C>A (p.Asn146Lys) | |
| 21 | g.44901589T>A | CA410476159 | ITGB2 | c.644A>T (p.Asn215Ile) c.617A>T (p.Asn206Ile) c.473A>T (p.Asn158Ile) n.787A>T n.525A>T c.*471A>T (n.*471A>T) c.437A>T (p.Asn146Ile) | |
| 21 | g.44901589T>C | CA410476160 | ITGB2 | c.644A>G (p.Asn215Ser) c.617A>G (p.Asn206Ser) c.473A>G (p.Asn158Ser) n.787A>G n.525A>G c.*471A>G (n.*471A>G) c.437A>G (p.Asn146Ser) | dbSNP |
| 21 | g.44901589T>G | CA410476158 | ITGB2 | c.644A>C (p.Asn215Thr) c.617A>C (p.Asn206Thr) c.473A>C (p.Asn158Thr) n.787A>C n.525A>C c.*471A>C (n.*471A>C) c.437A>C (p.Asn146Thr) | |
| 21 | g.44901590T>A | CA410476161 | ITGB2 | c.643A>T (p.Asn215Tyr) c.616A>T (p.Asn206Tyr) c.472A>T (p.Asn158Tyr) n.786A>T n.524A>T c.*470A>T (n.*470A>T) c.436A>T (p.Asn146Tyr) | |
| 21 | g.44901590T>C | CA10063142 | ITGB2 | c.643A>G (p.Asn215Asp) c.616A>G (p.Asn206Asp) c.472A>G (p.Asn158Asp) n.786A>G n.524A>G c.*470A>G (n.*470A>G) c.436A>G (p.Asn146Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44901590T>G | CA410476162 | ITGB2 | c.643A>C (p.Asn215His) c.616A>C (p.Asn206His) c.472A>C (p.Asn158His) n.786A>C n.524A>C c.*470A>C (n.*470A>C) c.436A>C (p.Asn146His) | |
| 21 | g.44901590T= | CA2391880220 | ITGB2 | c.643A= (p.Asn215=) c.616A= (p.Asn206=) c.472A= (p.Asn158=) n.786A= n.524A= c.*470A= (n.*470A=) c.436A= (p.Asn146=) | |
| 21 | g.44901591G>A | CA512551711 | ITGB2 | c.642C>T (p.Ser214=) c.615C>T (p.Ser205=) c.471C>T (p.Ser157=) n.785C>T n.523C>T c.*469C>T (n.*469C>T) c.435C>T (p.Ser145=) | |
| 21 | g.44901591G>C | CA512551712 | ITGB2 | c.642C>G (p.Ser214=) c.615C>G (p.Ser205=) c.471C>G (p.Ser157=) n.785C>G n.523C>G c.*469C>G (n.*469C>G) c.435C>G (p.Ser145=) | |
| 21 | g.44901591G>T | CA512551713 | ITGB2 | c.642C>A (p.Ser214=) c.615C>A (p.Ser205=) c.471C>A (p.Ser157=) n.785C>A n.523C>A c.*469C>A (n.*469C>A) c.435C>A (p.Ser145=) | |
| 21 | g.44901592G>A | CA410476163 | ITGB2 | c.641C>T (p.Ser214Phe) c.614C>T (p.Ser205Phe) c.470C>T (p.Ser157Phe) n.784C>T n.522C>T c.*468C>T (n.*468C>T) c.434C>T (p.Ser145Phe) | |
| 21 | g.44901592G>C | CA410476164 | ITGB2 | c.641C>G (p.Ser214Cys) c.614C>G (p.Ser205Cys) c.470C>G (p.Ser157Cys) n.784C>G n.522C>G c.*468C>G (n.*468C>G) c.434C>G (p.Ser145Cys) | |
| 21 | g.44901592G>T | CA410476165 | ITGB2 | c.641C>A (p.Ser214Tyr) c.614C>A (p.Ser205Tyr) c.470C>A (p.Ser157Tyr) n.784C>A n.522C>A c.*468C>A (n.*468C>A) c.434C>A (p.Ser145Tyr) | |
| 21 | g.44901593A>C | CA410476166 | ITGB2 | c.640T>G (p.Ser214Ala) c.613T>G (p.Ser205Ala) c.469T>G (p.Ser157Ala) n.783T>G n.521T>G c.*467T>G (n.*467T>G) c.433T>G (p.Ser145Ala) | |
| 21 | g.44901593A>G | CA410476168 | ITGB2 | c.640T>C (p.Ser214Pro) c.613T>C (p.Ser205Pro) c.469T>C (p.Ser157Pro) n.783T>C n.521T>C c.*467T>C (n.*467T>C) c.433T>C (p.Ser145Pro) | |
| 21 | g.44901593A>T | CA410476167 | ITGB2 | c.640T>A (p.Ser214Thr) c.613T>A (p.Ser205Thr) c.469T>A (p.Ser157Thr) n.783T>A n.521T>A c.*467T>A (n.*467T>A) c.433T>A (p.Ser145Thr) | |
| 21 | g.44901593_44901596delinsAGTT | CA2391880221 | ITGB2 | c.637_640delinsAACT (p.Asn213=) c.610_613delinsAACT (p.Asn204=) c.466_469delinsAACT (p.Asn156=) n.780_783delinsAACT n.518_521delinsAACT c.*464_*467delinsAACT (n.*464_*467delinsAACT) c.430_433delinsAACT (p.Asn144=) | |
| 21 | g.44901594G>A | CA512551714 | ITGB2 | c.639C>T (p.Asn213=) c.612C>T (p.Asn204=) c.468C>T (p.Asn156=) n.782C>T n.520C>T c.*466C>T (n.*466C>T) c.432C>T (p.Asn144=) | ClinVar |
| 21 | g.44901594G>C | CA410476169 | ITGB2 | c.639C>G (p.Asn213Lys) c.612C>G (p.Asn204Lys) c.468C>G (p.Asn156Lys) n.782C>G n.520C>G c.*466C>G (n.*466C>G) c.432C>G (p.Asn144Lys) | |
| 21 | g.44901594G>T | CA410476170 | ITGB2 | c.639C>A (p.Asn213Lys) c.612C>A (p.Asn204Lys) c.468C>A (p.Asn156Lys) n.782C>A n.520C>A c.*466C>A (n.*466C>A) c.432C>A (p.Asn144Lys) | |
| 21 | g.44901598_44901600del | CA638496042 | ITGB2 | c.637_639del (p.Asn213del) c.610_612del (p.Asn204del) c.466_468del (p.Asn156del) n.780_782del n.518_520del c.*464_*466del (n.*464_*466del) c.430_432del (p.Asn144del) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44901595T>A | CA410476171 | ITGB2 | c.638A>T (p.Asn213Ile) c.611A>T (p.Asn204Ile) c.467A>T (p.Asn156Ile) n.781A>T n.519A>T c.*465A>T (n.*465A>T) c.431A>T (p.Asn144Ile) | |
| 21 | g.44901595T>C | CA410476172 | ITGB2 | c.638A>G (p.Asn213Ser) c.611A>G (p.Asn204Ser) c.467A>G (p.Asn156Ser) n.781A>G n.519A>G c.*465A>G (n.*465A>G) c.431A>G (p.Asn144Ser) | gnomAD v4 COSMIC |
| 21 | g.44901595T>G | CA410476173 | ITGB2 | c.638A>C (p.Asn213Thr) c.611A>C (p.Asn204Thr) c.467A>C (p.Asn156Thr) n.781A>C n.519A>C c.*465A>C (n.*465A>C) c.431A>C (p.Asn144Thr) | |
| 21 | g.44901596T>A | CA410476175 | ITGB2 | c.637A>T (p.Asn213Tyr) c.610A>T (p.Asn204Tyr) c.466A>T (p.Asn156Tyr) n.780A>T n.518A>T c.*464A>T (n.*464A>T) c.430A>T (p.Asn144Tyr) | |
| 21 | g.44901596T>C | CA410476176 | ITGB2 | c.637A>G (p.Asn213Asp) c.610A>G (p.Asn204Asp) c.466A>G (p.Asn156Asp) n.780A>G n.518A>G c.*464A>G (n.*464A>G) c.430A>G (p.Asn144Asp) | |
| 21 | g.44901596T>G | CA410476174 | ITGB2 | c.637A>C (p.Asn213His) c.610A>C (p.Asn204His) c.466A>C (p.Asn156His) n.780A>C n.518A>C c.*464A>C (n.*464A>C) c.430A>C (p.Asn144His) | |
| 21 | g.44901597G>A | CA512551715 | ITGB2 | c.636C>T (p.Asn212=) c.609C>T (p.Asn203=) c.465C>T (p.Asn155=) n.779C>T n.517C>T c.*463C>T (n.*463C>T) c.429C>T (p.Asn143=) | ClinVar dbSNP |
| 21 | g.44901597G>C | CA410476177 | ITGB2 | c.636C>G (p.Asn212Lys) c.609C>G (p.Asn203Lys) c.465C>G (p.Asn155Lys) n.779C>G n.517C>G c.*463C>G (n.*463C>G) c.429C>G (p.Asn143Lys) | |
| 21 | g.44901597G= | CA2391880222 | ITGB2 | c.636C= (p.Asn212=) c.609C= (p.Asn203=) c.465C= (p.Asn155=) n.779C= n.517C= c.*463C= (n.*463C=) c.429C= (p.Asn143=) | |
| 21 | g.44901597G>T | CA410476178 | ITGB2 | c.636C>A (p.Asn212Lys) c.609C>A (p.Asn203Lys) c.465C>A (p.Asn155Lys) n.779C>A n.517C>A c.*463C>A (n.*463C>A) c.429C>A (p.Asn143Lys) | |
| 21 | g.44901598T>A | CA410476179 | ITGB2 | c.635A>T (p.Asn212Ile) c.608A>T (p.Asn203Ile) c.464A>T (p.Asn155Ile) n.778A>T n.516A>T c.*462A>T (n.*462A>T) c.428A>T (p.Asn143Ile) | |
| 21 | g.44901598T>C | CA410476180 | ITGB2 | c.635A>G (p.Asn212Ser) c.608A>G (p.Asn203Ser) c.464A>G (p.Asn155Ser) n.778A>G n.516A>G c.*462A>G (n.*462A>G) c.428A>G (p.Asn143Ser) | |
| 21 | g.44901598T>G | CA410476181 | ITGB2 | c.635A>C (p.Asn212Thr) c.608A>C (p.Asn203Thr) c.464A>C (p.Asn155Thr) n.778A>C n.516A>C c.*462A>C (n.*462A>C) c.428A>C (p.Asn143Thr) | |
| 21 | g.44901599del | CA2654867410 | ITGB2 | c.635del (p.Asn212ThrfsTer14) c.608del (p.Asn203ThrfsTer14) c.464del (p.Asn155ThrfsTer14) n.778del n.516del c.*462del (n.*462del) c.428del (p.Asn143ThrfsTer14) | gnomAD v4 |
| 21 | g.44901599T>A | CA410476182 | ITGB2 | c.634A>T (p.Asn212Tyr) c.607A>T (p.Asn203Tyr) c.463A>T (p.Asn155Tyr) n.777A>T n.515A>T c.*461A>T (n.*461A>T) c.427A>T (p.Asn143Tyr) | |
| 21 | g.44901599T>C | CA10063143 | ITGB2 | c.634A>G (p.Asn212Asp) c.607A>G (p.Asn203Asp) c.463A>G (p.Asn155Asp) n.777A>G n.515A>G c.*461A>G (n.*461A>G) c.427A>G (p.Asn143Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44901599T>G | CA410476183 | ITGB2 | c.634A>C (p.Asn212His) c.607A>C (p.Asn203His) c.463A>C (p.Asn155His) n.777A>C n.515A>C c.*461A>C (n.*461A>C) c.427A>C (p.Asn143His) | |
| 21 | g.44901599T= | CA2391880223 | ITGB2 | c.634A= (p.Asn212=) c.607A= (p.Asn203=) c.463A= (p.Asn155=) n.777A= n.515A= c.*461A= (n.*461A=) c.427A= (p.Asn143=) | |
| 21 | g.44901600G>A | CA512551716 | ITGB2 | c.633C>T (p.Thr211=) c.606C>T (p.Thr202=) c.462C>T (p.Thr154=) n.776C>T n.514C>T c.*460C>T (n.*460C>T) c.426C>T (p.Thr142=) | dbSNP |
| 21 | g.44901600G>C | CA512551717 | ITGB2 | c.633C>G (p.Thr211=) c.606C>G (p.Thr202=) c.462C>G (p.Thr154=) n.776C>G n.514C>G c.*460C>G (n.*460C>G) c.426C>G (p.Thr142=) | gnomAD v4 |
| 21 | g.44901600G= | CA2391880224 | ITGB2 | c.633C= (p.Thr211=) c.606C= (p.Thr202=) c.462C= (p.Thr154=) n.776C= n.514C= c.*460C= (n.*460C=) c.426C= (p.Thr142=) | |
| 21 | g.44901600G>T | CA512551718 | ITGB2 | c.633C>A (p.Thr211=) c.606C>A (p.Thr202=) c.462C>A (p.Thr154=) n.776C>A n.514C>A c.*460C>A (n.*460C>A) c.426C>A (p.Thr142=) | |
| 21 | g.44901601G>A | CA410476184 | ITGB2 | c.632C>T (p.Thr211Ile) c.605C>T (p.Thr202Ile) c.461C>T (p.Thr154Ile) n.775C>T n.513C>T c.*459C>T (n.*459C>T) c.425C>T (p.Thr142Ile) | dbSNP |
| 21 | g.44901601G>C | CA410476185 | ITGB2 | c.632C>G (p.Thr211Ser) c.605C>G (p.Thr202Ser) c.461C>G (p.Thr154Ser) n.775C>G n.513C>G c.*459C>G (n.*459C>G) c.425C>G (p.Thr142Ser) | |
| 21 | g.44901601G= | CA2391880225 | ITGB2 | c.632C= (p.Thr211=) c.605C= (p.Thr202=) c.461C= (p.Thr154=) n.775C= n.513C= c.*459C= (n.*459C=) c.425C= (p.Thr142=) | |
| 21 | g.44901601G>T | CA410476186 | ITGB2 | c.632C>A (p.Thr211Asn) c.605C>A (p.Thr202Asn) c.461C>A (p.Thr154Asn) n.775C>A n.513C>A c.*459C>A (n.*459C>A) c.425C>A (p.Thr142Asn) | |
| 21 | g.44901602T>A | CA410476187 | ITGB2 | c.631A>T (p.Thr211Ser) c.604A>T (p.Thr202Ser) c.460A>T (p.Thr154Ser) n.774A>T n.512A>T c.*458A>T (n.*458A>T) c.424A>T (p.Thr142Ser) | |
| 21 | g.44901602T>C | CA410476188 | ITGB2 | c.631A>G (p.Thr211Ala) c.604A>G (p.Thr202Ala) c.460A>G (p.Thr154Ala) n.774A>G n.512A>G c.*458A>G (n.*458A>G) c.424A>G (p.Thr142Ala) | |
| 21 | g.44901602T>G | CA410476189 | ITGB2 | c.631A>C (p.Thr211Pro) c.604A>C (p.Thr202Pro) c.460A>C (p.Thr154Pro) n.774A>C n.512A>C c.*458A>C (n.*458A>C) c.424A>C (p.Thr142Pro) | |
| 21 | g.44901603C>A | CA10063144 | ITGB2 | c.630G>T (p.Leu210=) c.603G>T (p.Leu201=) c.459G>T (p.Leu153=) n.773G>T n.511G>T c.*457G>T (n.*457G>T) c.423G>T (p.Leu141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44901603C= | CA2391880226 | ITGB2 | c.630G= (p.Leu210=) c.603G= (p.Leu201=) c.459G= (p.Leu153=) n.773G= n.511G= c.*457G= (n.*457G=) c.423G= (p.Leu141=) | |
| 21 | g.44901603C>G | CA512551720 | ITGB2 | c.630G>C (p.Leu210=) c.603G>C (p.Leu201=) c.459G>C (p.Leu153=) n.773G>C n.511G>C c.*457G>C (n.*457G>C) c.423G>C (p.Leu141=) | |
| 21 | g.44901603C>T | CA512551719 | ITGB2 | c.630G>A (p.Leu210=) c.603G>A (p.Leu201=) c.459G>A (p.Leu153=) n.773G>A n.511G>A c.*457G>A (n.*457G>A) c.423G>A (p.Leu141=) | |
| 21 | g.44901604A>C | CA410476190 | ITGB2 | c.629T>G (p.Leu210Arg) c.602T>G (p.Leu201Arg) c.458T>G (p.Leu153Arg) n.772T>G n.510T>G c.*456T>G (n.*456T>G) c.422T>G (p.Leu141Arg) | |
| 21 | g.44901604A>G | CA410476192 | ITGB2 | c.629T>C (p.Leu210Pro) c.602T>C (p.Leu201Pro) c.458T>C (p.Leu153Pro) n.772T>C n.510T>C c.*456T>C (n.*456T>C) c.422T>C (p.Leu141Pro) | |
| 21 | g.44901604A>T | CA410476191 | ITGB2 | c.629T>A (p.Leu210Gln) c.602T>A (p.Leu201Gln) c.458T>A (p.Leu153Gln) n.772T>A n.510T>A c.*456T>A (n.*456T>A) c.422T>A (p.Leu141Gln) | |
| 21 | g.44901605G>A | CA512551721 | ITGB2 | c.628C>T (p.Leu210=) c.601C>T (p.Leu201=) c.457C>T (p.Leu153=) n.771C>T n.509C>T c.*455C>T (n.*455C>T) c.421C>T (p.Leu141=) | |
| 21 | g.44901605G>C | CA410476193 | ITGB2 | c.628C>G (p.Leu210Val) c.601C>G (p.Leu201Val) c.457C>G (p.Leu153Val) n.771C>G n.509C>G c.*455C>G (n.*455C>G) c.421C>G (p.Leu141Val) | |
| 21 | g.44901605G>T | CA410476194 | ITGB2 | c.628C>A (p.Leu210Met) c.601C>A (p.Leu201Met) c.457C>A (p.Leu153Met) n.771C>A n.509C>A c.*455C>A (n.*455C>A) c.421C>A (p.Leu141Met) | |
| 21 | g.44901606C>A | CA410476195 | ITGB2 | c.627G>T (p.Lys209Asn) c.600G>T (p.Lys200Asn) c.456G>T (p.Lys152Asn) n.770G>T n.508G>T c.*454G>T (n.*454G>T) c.420G>T (p.Lys140Asn) | gnomAD v4 |
| 21 | g.44901606C>G | CA410476196 | ITGB2 | c.627G>C (p.Lys209Asn) c.600G>C (p.Lys200Asn) c.456G>C (p.Lys152Asn) n.770G>C n.508G>C c.*454G>C (n.*454G>C) c.420G>C (p.Lys140Asn) | |
| 21 | g.44901606C>T | CA512551722 | ITGB2 | c.627G>A (p.Lys209=) c.600G>A (p.Lys200=) c.456G>A (p.Lys152=) n.770G>A n.508G>A c.*454G>A (n.*454G>A) c.420G>A (p.Lys140=) | |
| 21 | g.44901607T>A | CA410476197 | ITGB2 | c.626A>T (p.Lys209Met) c.599A>T (p.Lys200Met) c.455A>T (p.Lys152Met) n.769A>T n.507A>T c.*453A>T (n.*453A>T) c.419A>T (p.Lys140Met) | |
| 21 | g.44901607T>C | CA410476198 | ITGB2 | c.626A>G (p.Lys209Arg) c.599A>G (p.Lys200Arg) c.455A>G (p.Lys152Arg) n.769A>G n.507A>G c.*453A>G (n.*453A>G) c.419A>G (p.Lys140Arg) | |
| 21 | g.44901607T>G | CA410476199 | ITGB2 | c.626A>C (p.Lys209Thr) c.599A>C (p.Lys200Thr) c.455A>C (p.Lys152Thr) n.769A>C n.507A>C c.*453A>C (n.*453A>C) c.419A>C (p.Lys140Thr) | |
| 21 | g.44901608T>A | CA410476200 | ITGB2 | c.625A>T (p.Lys209Ter) c.598A>T (p.Lys200Ter) c.454A>T (p.Lys152Ter) n.768A>T n.506A>T c.*452A>T (n.*452A>T) c.418A>T (p.Lys140Ter) | |
| 21 | g.44901608T>C | CA410476201 | ITGB2 | c.625A>G (p.Lys209Glu) c.598A>G (p.Lys200Glu) c.454A>G (p.Lys152Glu) n.768A>G n.506A>G c.*452A>G (n.*452A>G) c.418A>G (p.Lys140Glu) | |
| 21 | g.44901608T>G | CA10063145 | ITGB2 | c.625A>C (p.Lys209Gln) c.598A>C (p.Lys200Gln) c.454A>C (p.Lys152Gln) n.768A>C n.506A>C c.*452A>C (n.*452A>C) c.418A>C (p.Lys140Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44901608T= | CA2391880227 | ITGB2 | c.625A= (p.Lys209=) c.598A= (p.Lys200=) c.454A= (p.Lys152=) n.768A= n.506A= c.*452A= (n.*452A=) c.418A= (p.Lys140=) | |
| 21 | g.44901609C>A | CA512551723 | ITGB2 | c.624G>T (p.Leu208=) c.597G>T (p.Leu199=) c.453G>T (p.Leu151=) n.767G>T n.505G>T c.*451G>T (n.*451G>T) c.417G>T (p.Leu139=) | |
| 21 | g.44901609C>G | CA512551724 | ITGB2 | c.624G>C (p.Leu208=) c.597G>C (p.Leu199=) c.453G>C (p.Leu151=) n.767G>C n.505G>C c.*451G>C (n.*451G>C) c.417G>C (p.Leu139=) | gnomAD v4 |
| 21 | g.44901609C>T | CA512551725 | ITGB2 | c.624G>A (p.Leu208=) c.597G>A (p.Leu199=) c.453G>A (p.Leu151=) n.767G>A n.505G>A c.*451G>A (n.*451G>A) c.417G>A (p.Leu139=) | |
| 21 | g.44901610A>C | CA410476204 | ITGB2 | c.623T>G (p.Leu208Arg) c.596T>G (p.Leu199Arg) c.452T>G (p.Leu151Arg) n.766T>G n.504T>G c.*450T>G (n.*450T>G) c.416T>G (p.Leu139Arg) | |
| 21 | g.44901610A>G | CA410476203 | ITGB2 | c.623T>C (p.Leu208Pro) c.596T>C (p.Leu199Pro) c.452T>C (p.Leu151Pro) n.766T>C n.504T>C c.*450T>C (n.*450T>C) c.416T>C (p.Leu139Pro) | |
| 21 | g.44901610A>T | CA410476202 | ITGB2 | c.623T>A (p.Leu208Gln) c.596T>A (p.Leu199Gln) c.452T>A (p.Leu151Gln) n.766T>A n.504T>A c.*450T>A (n.*450T>A) c.416T>A (p.Leu139Gln) | |
| 21 | g.44901611G>A | CA10063146 | ITGB2 | c.622C>T (p.Leu208=) c.595C>T (p.Leu199=) c.451C>T (p.Leu151=) n.765C>T n.503C>T c.*449C>T (n.*449C>T) c.415C>T (p.Leu139=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44901611G>C | CA410476205 | ITGB2 | c.622C>G (p.Leu208Val) c.595C>G (p.Leu199Val) c.451C>G (p.Leu151Val) n.765C>G n.503C>G c.*449C>G (n.*449C>G) c.415C>G (p.Leu139Val) | |
| 21 | g.44901611G= | CA2391880228 | ITGB2 | c.622C= (p.Leu208=) c.595C= (p.Leu199=) c.451C= (p.Leu151=) n.765C= n.503C= c.*449C= (n.*449C=) c.415C= (p.Leu139=) | |
| 21 | g.44901611G>T | CA410476206 | ITGB2 | c.622C>A (p.Leu208Met) c.595C>A (p.Leu199Met) c.451C>A (p.Leu151Met) n.765C>A n.503C>A c.*449C>A (n.*449C>A) c.415C>A (p.Leu139Met) | |
| 21 | g.44901612C>A | CA512551727 | ITGB2 | c.621G>T (p.Val207=) c.594G>T (p.Val198=) c.450G>T (p.Val150=) n.764G>T n.502G>T c.*448G>T (n.*448G>T) c.414G>T (p.Val138=) | |
| 21 | g.44901612C= | CA2391880229 | ITGB2 | c.621G= (p.Val207=) c.594G= (p.Val198=) c.450G= (p.Val150=) n.764G= n.502G= c.*448G= (n.*448G=) c.414G= (p.Val138=) | |
| 21 | g.44901612C>G | CA512551726 | ITGB2 | c.621G>C (p.Val207=) c.594G>C (p.Val198=) c.450G>C (p.Val150=) n.764G>C n.502G>C c.*448G>C (n.*448G>C) c.414G>C (p.Val138=) | |
| 21 | g.44901612C>T | CA10063147 | ITGB2 | c.621G>A (p.Val207=) c.594G>A (p.Val198=) c.450G>A (p.Val150=) n.764G>A n.502G>A c.*448G>A (n.*448G>A) c.414G>A (p.Val138=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44901613A>C | CA410476207 | ITGB2 | c.620T>G (p.Val207Gly) c.593T>G (p.Val198Gly) c.449T>G (p.Val150Gly) n.763T>G n.501T>G c.*447T>G (n.*447T>G) c.413T>G (p.Val138Gly) | |
| 21 | g.44901613A>G | CA410476208 | ITGB2 | c.620T>C (p.Val207Ala) c.593T>C (p.Val198Ala) c.449T>C (p.Val150Ala) n.763T>C n.501T>C c.*447T>C (n.*447T>C) c.413T>C (p.Val138Ala) | |
| 21 | g.44901613A>T | CA410476209 | ITGB2 | c.620T>A (p.Val207Glu) c.593T>A (p.Val198Glu) c.449T>A (p.Val150Glu) n.763T>A n.501T>A c.*447T>A (n.*447T>A) c.413T>A (p.Val138Glu) | |
| 21 | g.44901614C>A | CA410476210 | ITGB2 | c.619G>T (p.Val207Leu) c.592G>T (p.Val198Leu) c.448G>T (p.Val150Leu) n.762G>T n.500G>T c.*446G>T (n.*446G>T) c.412G>T (p.Val138Leu) | gnomAD v4 |
| 21 | g.44901614C= | CA2391880230 | ITGB2 | c.619G= (p.Val207=) c.592G= (p.Val198=) c.448G= (p.Val150=) n.762G= n.500G= c.*446G= (n.*446G=) c.412G= (p.Val138=) | |
| 21 | g.44901614C>G | CA410476211 | ITGB2 | c.619G>C (p.Val207Leu) c.592G>C (p.Val198Leu) c.448G>C (p.Val150Leu) n.762G>C n.500G>C c.*446G>C (n.*446G>C) c.412G>C (p.Val138Leu) | |
| 21 | g.44901614C>T | CA410476212 | ITGB2 | c.619G>A (p.Val207Met) c.592G>A (p.Val198Met) c.448G>A (p.Val150Met) n.762G>A n.500G>A c.*446G>A (n.*446G>A) c.412G>A (p.Val138Met) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.44901615G>A | CA10063148 | ITGB2 | c.618C>T (p.His206=) c.591C>T (p.His197=) c.447C>T (p.His149=) n.761C>T n.499C>T c.*445C>T (n.*445C>T) c.411C>T (p.His137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44901615G>C | CA410476213 | ITGB2 | c.618C>G (p.His206Gln) c.591C>G (p.His197Gln) c.447C>G (p.His149Gln) n.761C>G n.499C>G c.*445C>G (n.*445C>G) c.411C>G (p.His137Gln) | |
| 21 | g.44901615G= | CA2391880231 | ITGB2 | c.618C= (p.His206=) c.591C= (p.His197=) c.447C= (p.His149=) n.761C= n.499C= c.*445C= (n.*445C=) c.411C= (p.His137=) | |
| 21 | g.44901615G>T | CA410476214 | ITGB2 | c.618C>A (p.His206Gln) c.591C>A (p.His197Gln) c.447C>A (p.His149Gln) n.761C>A n.499C>A c.*445C>A (n.*445C>A) c.411C>A (p.His137Gln) | dbSNP |
| 21 | g.44901616T>A | CA410476217 | ITGB2 | c.617A>T (p.His206Leu) c.590A>T (p.His197Leu) c.446A>T (p.His149Leu) n.760A>T n.498A>T c.*444A>T (n.*444A>T) c.410A>T (p.His137Leu) | gnomAD v4 |
| 21 | g.44901616T>C | CA410476215 | ITGB2 | c.617A>G (p.His206Arg) c.590A>G (p.His197Arg) c.446A>G (p.His149Arg) n.760A>G n.498A>G c.*444A>G (n.*444A>G) c.410A>G (p.His137Arg) | |
| 21 | g.44901616T>G | CA410476216 | ITGB2 | c.617A>C (p.His206Pro) c.590A>C (p.His197Pro) c.446A>C (p.His149Pro) n.760A>C n.498A>C c.*444A>C (n.*444A>C) c.410A>C (p.His137Pro) | |
| 21 | g.44901617G>A | CA410476218 | ITGB2 | c.616C>T (p.His206Tyr) c.589C>T (p.His197Tyr) c.445C>T (p.His149Tyr) n.759C>T n.497C>T c.*443C>T (n.*443C>T) c.409C>T (p.His137Tyr) | ClinVar gnomAD v4 |
| 21 | g.44901617G>C | CA410476219 | ITGB2 | c.616C>G (p.His206Asp) c.589C>G (p.His197Asp) c.445C>G (p.His149Asp) n.759C>G n.497C>G c.*443C>G (n.*443C>G) c.409C>G (p.His137Asp) | |
| 21 | g.44901617G>T | CA410476220 | ITGB2 | c.616C>A (p.His206Asn) c.589C>A (p.His197Asn) c.445C>A (p.His149Asn) n.759C>A n.497C>A c.*443C>A (n.*443C>A) c.409C>A (p.His137Asn) | |
| 21 | g.44901618C>A | CA410476221 | ITGB2 | c.615G>T (p.Arg205Ser) c.588G>T (p.Arg196Ser) c.444G>T (p.Arg148Ser) n.758G>T n.496G>T c.*442G>T (n.*442G>T) c.408G>T (p.Arg136Ser) | gnomAD v4 |
| 21 | g.44901618C>G | CA410476222 | ITGB2 | c.615G>C (p.Arg205Ser) c.588G>C (p.Arg196Ser) c.444G>C (p.Arg148Ser) n.758G>C n.496G>C c.*442G>C (n.*442G>C) c.408G>C (p.Arg136Ser) | |
| 21 | g.44901618C>T | CA512551728 | ITGB2 | c.615G>A (p.Arg205=) c.588G>A (p.Arg196=) c.444G>A (p.Arg148=) n.758G>A n.496G>A c.*442G>A (n.*442G>A) c.408G>A (p.Arg136=) | |
| 21 | g.44901619del | CA2654867474 | ITGB2 | c.615del (p.Arg205SerfsTer4) c.588del (p.Arg196SerfsTer4) c.444del (p.Arg148SerfsTer4) n.758del n.496del c.*442del (n.*442del) c.408del (p.Arg136SerfsTer4) | gnomAD v4 |
| 21 | g.44901618_44901619insT | CA2695230305 | ITGB2 | c.614_615insA (p.His206AlafsTer?) c.587_588insA (p.His197AlafsTer?) c.443_444insA (p.His149AlafsTer?) n.757_758insA n.495_496insA c.*441_*442insA (n.*441_*442insA) c.407_408insA (p.His137AlafsTer?) | |
| 21 | g.44901619C>A | CA410476223 | ITGB2 | c.614G>T (p.Arg205Met) c.587G>T (p.Arg196Met) c.443G>T (p.Arg148Met) n.757G>T n.495G>T c.*441G>T (n.*441G>T) c.407G>T (p.Arg136Met) | |
| 21 | g.44901619C= | CA2391880232 | ITGB2 | c.614G= (p.Arg205=) c.587G= (p.Arg196=) c.443G= (p.Arg148=) n.757G= n.495G= c.*441G= (n.*441G=) c.407G= (p.Arg136=) | |
| 21 | g.44901619C>G | CA10063149 | ITGB2 | c.614G>C (p.Arg205Thr) c.587G>C (p.Arg196Thr) c.443G>C (p.Arg148Thr) n.757G>C n.495G>C c.*441G>C (n.*441G>C) c.407G>C (p.Arg136Thr) | dbSNP ExAC gnomAD v2 |
| 21 | g.44901619C>T | CA410476224 | ITGB2 | c.614G>A (p.Arg205Lys) c.587G>A (p.Arg196Lys) c.443G>A (p.Arg148Lys) n.757G>A n.495G>A c.*441G>A (n.*441G>A) c.407G>A (p.Arg136Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44901620T>A | CA410476225 | ITGB2 | c.613A>T (p.Arg205Trp) c.586A>T (p.Arg196Trp) c.442A>T (p.Arg148Trp) n.756A>T n.494A>T c.*440A>T (n.*440A>T) c.406A>T (p.Arg136Trp) | |
| 21 | g.44901620T>C | CA410476226 | ITGB2 | c.613A>G (p.Arg205Gly) c.586A>G (p.Arg196Gly) c.442A>G (p.Arg148Gly) n.756A>G n.494A>G c.*440A>G (n.*440A>G) c.406A>G (p.Arg136Gly) | |
| 21 | g.44901620T>G | CA512551729 | ITGB2 | c.613A>C (p.Arg205=) c.586A>C (p.Arg196=) c.442A>C (p.Arg148=) n.756A>C n.494A>C c.*440A>C (n.*440A>C) c.406A>C (p.Arg136=) | |
| 21 | g.44901621G>A | CA512551730 | ITGB2 | c.612C>T (p.Phe204=) c.585C>T (p.Phe195=) c.441C>T (p.Phe147=) n.755C>T n.493C>T c.*439C>T (n.*439C>T) c.405C>T (p.Phe135=) | dbSNP COSMIC |
| 21 | g.44901621G>C | CA410476227 | ITGB2 | c.612C>G (p.Phe204Leu) c.585C>G (p.Phe195Leu) c.441C>G (p.Phe147Leu) n.755C>G n.493C>G c.*439C>G (n.*439C>G) c.405C>G (p.Phe135Leu) | |
| 21 | g.44901621G= | CA2391880233 | ITGB2 | c.612C= (p.Phe204=) c.585C= (p.Phe195=) c.441C= (p.Phe147=) n.755C= n.493C= c.*439C= (n.*439C=) c.405C= (p.Phe135=) | |
| 21 | g.44901621G>T | CA410476228 | ITGB2 | c.612C>A (p.Phe204Leu) c.585C>A (p.Phe195Leu) c.441C>A (p.Phe147Leu) n.755C>A n.493C>A c.*439C>A (n.*439C>A) c.405C>A (p.Phe135Leu) | |
| 21 | g.44901622A>C | CA410476230 | ITGB2 | c.611T>G (p.Phe204Cys) c.584T>G (p.Phe195Cys) c.440T>G (p.Phe147Cys) n.754T>G n.492T>G c.*438T>G (n.*438T>G) c.404T>G (p.Phe135Cys) | |
| 21 | g.44901622A>G | CA410476231 | ITGB2 | c.611T>C (p.Phe204Ser) c.584T>C (p.Phe195Ser) c.440T>C (p.Phe147Ser) n.754T>C n.492T>C c.*438T>C (n.*438T>C) c.404T>C (p.Phe135Ser) | |
| 21 | g.44901622A>T | CA410476229 | ITGB2 | c.611T>A (p.Phe204Tyr) c.584T>A (p.Phe195Tyr) c.440T>A (p.Phe147Tyr) n.754T>A n.492T>A c.*438T>A (n.*438T>A) c.404T>A (p.Phe135Tyr) | |
| 21 | g.44901623A>C | CA410476233 | ITGB2 | c.610T>G (p.Phe204Val) c.583T>G (p.Phe195Val) c.439T>G (p.Phe147Val) n.753T>G n.491T>G c.*437T>G (n.*437T>G) c.403T>G (p.Phe135Val) | |
| 21 | g.44901623A>G | CA410476232 | ITGB2 | c.610T>C (p.Phe204Leu) c.583T>C (p.Phe195Leu) c.439T>C (p.Phe147Leu) n.753T>C n.491T>C c.*437T>C (n.*437T>C) c.403T>C (p.Phe135Leu) | |
| 21 | g.44901623A>T | CA410476234 | ITGB2 | c.610T>A (p.Phe204Ile) c.583T>A (p.Phe195Ile) c.439T>A (p.Phe147Ile) n.753T>A n.491T>A c.*437T>A (n.*437T>A) c.403T>A (p.Phe135Ile) | |
| 21 | g.44901624G>A | CA512551731 | ITGB2 | c.609C>T (p.Ala203=) c.582C>T (p.Ala194=) c.438C>T (p.Ala146=) n.752C>T n.490C>T c.*436C>T (n.*436C>T) c.402C>T (p.Ala134=) | |
| 21 | g.44901624G>C | CA512551732 | ITGB2 | c.609C>G (p.Ala203=) c.582C>G (p.Ala194=) c.438C>G (p.Ala146=) n.752C>G n.490C>G c.*436C>G (n.*436C>G) c.402C>G (p.Ala134=) | |
| 21 | g.44901624G>T | CA512551733 | ITGB2 | c.609C>A (p.Ala203=) c.582C>A (p.Ala194=) c.438C>A (p.Ala146=) n.752C>A n.490C>A c.*436C>A (n.*436C>A) c.402C>A (p.Ala134=) | |
| 21 | g.44901625G>A | CA410476235 | ITGB2 | c.608C>T (p.Ala203Val) c.581C>T (p.Ala194Val) c.437C>T (p.Ala146Val) n.751C>T n.489C>T c.*435C>T (n.*435C>T) c.401C>T (p.Ala134Val) | |
| 21 | g.44901625G>C | CA410476237 | ITGB2 | c.608C>G (p.Ala203Gly) c.581C>G (p.Ala194Gly) c.437C>G (p.Ala146Gly) n.751C>G n.489C>G c.*435C>G (n.*435C>G) c.401C>G (p.Ala134Gly) | |
| 21 | g.44901625G>T | CA410476236 | ITGB2 | c.608C>A (p.Ala203Asp) c.581C>A (p.Ala194Asp) c.437C>A (p.Ala146Asp) n.751C>A n.489C>A c.*435C>A (n.*435C>A) c.401C>A (p.Ala134Asp) | |
| 21 | g.44901626C>A | CA410476238 | ITGB2 | c.607G>T (p.Ala203Ser) c.580G>T (p.Ala194Ser) c.436G>T (p.Ala146Ser) n.750G>T n.488G>T c.*434G>T (n.*434G>T) c.400G>T (p.Ala134Ser) | |
| 21 | g.44901626C>G | CA410476239 | ITGB2 | c.607G>C (p.Ala203Pro) c.580G>C (p.Ala194Pro) c.436G>C (p.Ala146Pro) n.750G>C n.488G>C c.*434G>C (n.*434G>C) c.400G>C (p.Ala134Pro) | |
| 21 | g.44901626C>T | CA410476240 | ITGB2 | c.607G>A (p.Ala203Thr) c.580G>A (p.Ala194Thr) c.436G>A (p.Ala146Thr) n.750G>A n.488G>A c.*434G>A (n.*434G>A) c.400G>A (p.Ala134Thr) | |
| 21 | g.44901627A>C | CA410476241 | ITGB2 | c.606T>G (p.Phe202Leu) c.579T>G (p.Phe193Leu) c.435T>G (p.Phe145Leu) n.749T>G n.487T>G c.*433T>G (n.*433T>G) c.399T>G (p.Phe133Leu) | |
| 21 | g.44901627A>G | CA512551734 | ITGB2 | c.606T>C (p.Phe202=) c.579T>C (p.Phe193=) c.435T>C (p.Phe145=) n.749T>C n.487T>C c.*433T>C (n.*433T>C) c.399T>C (p.Phe133=) | |
| 21 | g.44901627A>T | CA410476242 | ITGB2 | c.606T>A (p.Phe202Leu) c.579T>A (p.Phe193Leu) c.435T>A (p.Phe145Leu) n.749T>A n.487T>A c.*433T>A (n.*433T>A) c.399T>A (p.Phe133Leu) | |
| 21 | g.44901628A>C | CA410476243 | ITGB2 | c.605T>G (p.Phe202Cys) c.578T>G (p.Phe193Cys) c.434T>G (p.Phe145Cys) n.748T>G n.486T>G c.*432T>G (n.*432T>G) c.398T>G (p.Phe133Cys) | |
| 21 | g.44901628A>G | CA410476244 | ITGB2 | c.605T>C (p.Phe202Ser) c.578T>C (p.Phe193Ser) c.434T>C (p.Phe145Ser) n.748T>C n.486T>C c.*432T>C (n.*432T>C) c.398T>C (p.Phe133Ser) | gnomAD v4 |
| 21 | g.44901628A>T | CA410476245 | ITGB2 | c.605T>A (p.Phe202Tyr) c.578T>A (p.Phe193Tyr) c.434T>A (p.Phe145Tyr) n.748T>A n.486T>A c.*432T>A (n.*432T>A) c.398T>A (p.Phe133Tyr) | |
| 21 | g.44901629A>C | CA410476246 | ITGB2 | c.604T>G (p.Phe202Val) c.577T>G (p.Phe193Val) c.433T>G (p.Phe145Val) n.747T>G n.485T>G c.*431T>G (n.*431T>G) c.397T>G (p.Phe133Val) | |
| 21 | g.44901629A>G | CA410476247 | ITGB2 | c.604T>C (p.Phe202Leu) c.577T>C (p.Phe193Leu) c.433T>C (p.Phe145Leu) n.747T>C n.485T>C c.*431T>C (n.*431T>C) c.397T>C (p.Phe133Leu) | gnomAD v4 |
| 21 | g.44901629A>T | CA410476248 | ITGB2 | c.604T>A (p.Phe202Ile) c.577T>A (p.Phe193Ile) c.433T>A (p.Phe145Ile) n.747T>A n.485T>A c.*431T>A (n.*431T>A) c.397T>A (p.Phe133Ile) | |
| 21 | g.44901630C>A | CA512551735 | ITGB2 | c.603G>T (p.Pro201=) c.576G>T (p.Pro192=) c.432G>T (p.Pro144=) n.746G>T n.484G>T c.*430G>T (n.*430G>T) c.396G>T (p.Pro132=) | |
| 21 | g.44901630C= | CA2391880234 | ITGB2 | c.603G= (p.Pro201=) c.576G= (p.Pro192=) c.432G= (p.Pro144=) n.746G= n.484G= c.*430G= (n.*430G=) c.396G= (p.Pro132=) | |
| 21 | g.44901630C>G | CA512551736 | ITGB2 | c.603G>C (p.Pro201=) c.576G>C (p.Pro192=) c.432G>C (p.Pro144=) n.746G>C n.484G>C c.*430G>C (n.*430G>C) c.396G>C (p.Pro132=) | |
| 21 | g.44901630C>T | CA10063150 | ITGB2 | c.603G>A (p.Pro201=) c.576G>A (p.Pro192=) c.432G>A (p.Pro144=) n.746G>A n.484G>A c.*430G>A (n.*430G>A) c.396G>A (p.Pro132=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.44901631G>A | CA10063151 | ITGB2 | c.602C>T (p.Pro201Leu) c.575C>T (p.Pro192Leu) c.431C>T (p.Pro144Leu) n.745C>T n.483C>T c.*429C>T (n.*429C>T) c.395C>T (p.Pro132Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44901631G>C | CA410476250 | ITGB2 | c.602C>G (p.Pro201Arg) c.575C>G (p.Pro192Arg) c.431C>G (p.Pro144Arg) n.745C>G n.483C>G c.*429C>G (n.*429C>G) c.395C>G (p.Pro132Arg) | |
| 21 | g.44901631G= | CA2391880235 | ITGB2 | c.602C= (p.Pro201=) c.575C= (p.Pro192=) c.431C= (p.Pro144=) n.745C= n.483C= c.*429C= (n.*429C=) c.395C= (p.Pro132=) | |
| 21 | g.44901631G>T | CA410476249 | ITGB2 | c.602C>A (p.Pro201Gln) c.575C>A (p.Pro192Gln) c.431C>A (p.Pro144Gln) n.745C>A n.483C>A c.*429C>A (n.*429C>A) c.395C>A (p.Pro132Gln) | gnomAD v4 |
| 21 | g.44901635del | CA2695230306 | ITGB2 | c.602del (p.Pro201ArgfsTer8) c.575del (p.Pro192ArgfsTer8) c.431del (p.Pro144ArgfsTer8) n.745del n.483del c.*429del (n.*429del) c.395del (p.Pro132ArgfsTer8) | |
| 21 | g.44901632G>A | CA410476251 | ITGB2 | c.601C>T (p.Pro201Ser) c.574C>T (p.Pro192Ser) c.430C>T (p.Pro144Ser) n.744C>T n.482C>T c.*428C>T (n.*428C>T) c.394C>T (p.Pro132Ser) | dbSNP |
| 21 | g.44901632G>C | CA410476252 | ITGB2 | c.601C>G (p.Pro201Ala) c.574C>G (p.Pro192Ala) c.430C>G (p.Pro144Ala) n.744C>G n.482C>G c.*428C>G (n.*428C>G) c.394C>G (p.Pro132Ala) | |
| 21 | g.44901632G= | CA2391880236 | ITGB2 | c.601C= (p.Pro201=) c.574C= (p.Pro192=) c.430C= (p.Pro144=) n.744C= n.482C= c.*428C= (n.*428C=) c.394C= (p.Pro132=) | |
| 21 | g.44901632G>T | CA410476253 | ITGB2 | c.601C>A (p.Pro201Thr) c.574C>A (p.Pro192Thr) c.430C>A (p.Pro144Thr) n.744C>A n.482C>A c.*428C>A (n.*428C>A) c.394C>A (p.Pro132Thr) | |
| 21 | g.44901633G>A | CA512551737 | ITGB2 | c.600C>T (p.Pro200=) c.573C>T (p.Pro191=) c.429C>T (p.Pro143=) n.743C>T n.481C>T c.*427C>T (n.*427C>T) c.393C>T (p.Pro131=) | |
| 21 | g.44901633G>C | CA512551738 | ITGB2 | c.600C>G (p.Pro200=) c.573C>G (p.Pro191=) c.429C>G (p.Pro143=) n.743C>G n.481C>G c.*427C>G (n.*427C>G) c.393C>G (p.Pro131=) | |
| 21 | g.44901633G>T | CA512551739 | ITGB2 | c.600C>A (p.Pro200=) c.573C>A (p.Pro191=) c.429C>A (p.Pro143=) n.743C>A n.481C>A c.*427C>A (n.*427C>A) c.393C>A (p.Pro131=) | |
| 21 | g.44901634G>A | CA10063152 | ITGB2 | c.599C>T (p.Pro200Leu) c.572C>T (p.Pro191Leu) c.428C>T (p.Pro143Leu) n.742C>T n.480C>T c.*426C>T (n.*426C>T) c.392C>T (p.Pro131Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 21 | g.44901634G>C | CA410476254 | ITGB2 | c.599C>G (p.Pro200Arg) c.572C>G (p.Pro191Arg) c.428C>G (p.Pro143Arg) n.742C>G n.480C>G c.*426C>G (n.*426C>G) c.392C>G (p.Pro131Arg) | |
| 21 | g.44901634G= | CA2391880237 | ITGB2 | c.599C= (p.Pro200=) c.572C= (p.Pro191=) c.428C= (p.Pro143=) n.742C= n.480C= c.*426C= (n.*426C=) c.392C= (p.Pro131=) | |
| 21 | g.44901634G>T | CA410476255 | ITGB2 | c.599C>A (p.Pro200His) c.572C>A (p.Pro191His) c.428C>A (p.Pro143His) n.742C>A n.480C>A c.*426C>A (n.*426C>A) c.392C>A (p.Pro131His) | |
| 21 | g.44901635G>A | CA10063153 | ITGB2 | c.598C>T (p.Pro200Ser) c.571C>T (p.Pro191Ser) c.427C>T (p.Pro143Ser) n.741C>T n.479C>T c.*425C>T (n.*425C>T) c.391C>T (p.Pro131Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44901635G>C | CA410476256 | ITGB2 | c.598C>G (p.Pro200Ala) c.571C>G (p.Pro191Ala) c.427C>G (p.Pro143Ala) n.741C>G n.479C>G c.*425C>G (n.*425C>G) c.391C>G (p.Pro131Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.44901635G= | CA2391880238 | ITGB2 | c.598C= (p.Pro200=) c.571C= (p.Pro191=) c.427C= (p.Pro143=) n.741C= n.479C= c.*425C= (n.*425C=) c.391C= (p.Pro131=) | |
| 21 | g.44901635G>T | CA410476257 | ITGB2 | c.598C>A (p.Pro200Thr) c.571C>A (p.Pro191Thr) c.427C>A (p.Pro143Thr) n.741C>A n.479C>A c.*425C>A (n.*425C>A) c.391C>A (p.Pro131Thr) | gnomAD v4 |
| 21 | g.44901636C>A | CA410476259 | ITGB2 | c.597G>T (p.Gln199His) c.570G>T (p.Gln190His) c.426G>T (p.Gln142His) n.740G>T n.478G>T c.*424G>T (n.*424G>T) c.390G>T (p.Gln130His) | gnomAD v4 |
| 21 | g.44901636C= | CA2391880239 | ITGB2 | c.597G= (p.Gln199=) c.570G= (p.Gln190=) c.426G= (p.Gln142=) n.740G= n.478G= c.*424G= (n.*424G=) c.390G= (p.Gln130=) | |
| 21 | g.44901636C>G | CA410476258 | ITGB2 | c.597G>C (p.Gln199His) c.570G>C (p.Gln190His) c.426G>C (p.Gln142His) n.740G>C n.478G>C c.*424G>C (n.*424G>C) c.390G>C (p.Gln130His) | |
| 21 | g.44901636C>T | CA512551740 | ITGB2 | c.597G>A (p.Gln199=) c.570G>A (p.Gln190=) c.426G>A (p.Gln142=) n.740G>A n.478G>A c.*424G>A (n.*424G>A) c.390G>A (p.Gln130=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 21 | g.44901637T>A | CA410476260 | ITGB2 | c.596A>T (p.Gln199Leu) c.569A>T (p.Gln190Leu) c.425A>T (p.Gln142Leu) n.739A>T n.477A>T c.*423A>T (n.*423A>T) c.389A>T (p.Gln130Leu) | |
| 21 | g.44901637T>C | CA410476261 | ITGB2 | c.596A>G (p.Gln199Arg) c.569A>G (p.Gln190Arg) c.425A>G (p.Gln142Arg) n.739A>G n.477A>G c.*423A>G (n.*423A>G) c.389A>G (p.Gln130Arg) | |
| 21 | g.44901637T>G | CA410476262 | ITGB2 | c.596A>C (p.Gln199Pro) c.569A>C (p.Gln190Pro) c.425A>C (p.Gln142Pro) n.739A>C n.477A>C c.*423A>C (n.*423A>C) c.389A>C (p.Gln130Pro) | |
| 21 | g.44901638G>A | CA410476263 | ITGB2 | c.595C>T (p.Gln199Ter) c.568C>T (p.Gln190Ter) c.424C>T (p.Gln142Ter) n.738C>T n.476C>T c.*422C>T (n.*422C>T) c.388C>T (p.Gln130Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44901638G>C | CA410476264 | ITGB2 | c.595C>G (p.Gln199Glu) c.568C>G (p.Gln190Glu) c.424C>G (p.Gln142Glu) n.738C>G n.476C>G c.*422C>G (n.*422C>G) c.388C>G (p.Gln130Glu) | |
| 21 | g.44901638G= | CA2391880240 | ITGB2 | c.595C= (p.Gln199=) c.568C= (p.Gln190=) c.424C= (p.Gln142=) n.738C= n.476C= c.*422C= (n.*422C=) c.388C= (p.Gln130=) | |
| 21 | g.44901638G>T | CA410476265 | ITGB2 | c.595C>A (p.Gln199Lys) c.568C>A (p.Gln190Lys) c.424C>A (p.Gln142Lys) n.738C>A n.476C>A c.*422C>A (n.*422C>A) c.388C>A (p.Gln130Lys) | |
| 21 | g.44901639G>A | CA512551741 | ITGB2 | c.594C>T (p.Cys198=) c.567C>T (p.Cys189=) c.423C>T (p.Cys141=) n.737C>T n.475C>T c.*421C>T (n.*421C>T) c.387C>T (p.Cys129=) | gnomAD v4 |
| 21 | g.44901639G>C | CA410476267 | ITGB2 | c.594C>G (p.Cys198Trp) c.567C>G (p.Cys189Trp) c.423C>G (p.Cys141Trp) n.737C>G n.475C>G c.*421C>G (n.*421C>G) c.387C>G (p.Cys129Trp) | |
| 21 | g.44901639G>T | CA410476266 | ITGB2 | c.594C>A (p.Cys198Ter) c.567C>A (p.Cys189Ter) c.423C>A (p.Cys141Ter) n.737C>A n.475C>A c.*421C>A (n.*421C>A) c.387C>A (p.Cys129Ter) | |
| 21 | g.44901640C>A | CA410476268 | ITGB2 | c.593G>T (p.Cys198Phe) c.566G>T (p.Cys189Phe) c.422G>T (p.Cys141Phe) n.736G>T n.474G>T c.*420G>T (n.*420G>T) c.386G>T (p.Cys129Phe) | gnomAD v4 |
| 21 | g.44901640C>G | CA410476269 | ITGB2 | c.593G>C (p.Cys198Ser) c.566G>C (p.Cys189Ser) c.422G>C (p.Cys141Ser) n.736G>C n.474G>C c.*420G>C (n.*420G>C) c.386G>C (p.Cys129Ser) | |
| 21 | g.44901640C>T | CA410476270 | ITGB2 | c.593G>A (p.Cys198Tyr) c.566G>A (p.Cys189Tyr) c.422G>A (p.Cys141Tyr) n.736G>A n.474G>A c.*420G>A (n.*420G>A) c.386G>A (p.Cys129Tyr) | |
| 21 | g.44901641A>C | CA410476271 | ITGB2 | c.592T>G (p.Cys198Gly) c.565T>G (p.Cys189Gly) c.421T>G (p.Cys141Gly) n.735T>G n.473T>G c.*419T>G (n.*419T>G) c.385T>G (p.Cys129Gly) | |
| 21 | g.44901641A>G | CA410476272 | ITGB2 | c.592T>C (p.Cys198Arg) c.565T>C (p.Cys189Arg) c.421T>C (p.Cys141Arg) n.735T>C n.473T>C c.*419T>C (n.*419T>C) c.385T>C (p.Cys129Arg) | |
| 21 | g.44901641A>T | CA410476273 | ITGB2 | c.592T>A (p.Cys198Ser) c.565T>A (p.Cys189Ser) c.421T>A (p.Cys141Ser) n.735T>A n.473T>A c.*419T>A (n.*419T>A) c.385T>A (p.Cys129Ser) | |
| 21 | g.44901642C>A | CA410476274 | ITGB2 | c.591G>T (p.Glu197Asp) c.564G>T (p.Glu188Asp) c.420G>T (p.Glu140Asp) n.734G>T n.472G>T c.*418G>T (n.*418G>T) c.384G>T (p.Glu128Asp) | |
| 21 | g.44901642C= | CA2391880241 | ITGB2 | c.591G= (p.Glu197=) c.564G= (p.Glu188=) c.420G= (p.Glu140=) n.734G= n.472G= c.*418G= (n.*418G=) c.384G= (p.Glu128=) | |
| 21 | g.44901642C>G | CA10063154 | ITGB2 | c.591G>C (p.Glu197Asp) c.564G>C (p.Glu188Asp) c.420G>C (p.Glu140Asp) n.734G>C n.472G>C c.*418G>C (n.*418G>C) c.384G>C (p.Glu128Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44901642C>T | CA10063155 | ITGB2 | c.591G>A (p.Glu197=) c.564G>A (p.Glu188=) c.420G>A (p.Glu140=) n.734G>A n.472G>A c.*418G>A (n.*418G>A) c.384G>A (p.Glu128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44901643T>A | CA410476275 | ITGB2 | c.590A>T (p.Glu197Val) c.563A>T (p.Glu188Val) c.419A>T (p.Glu140Val) n.733A>T n.471A>T c.*417A>T (n.*417A>T) c.383A>T (p.Glu128Val) | |
| 21 | g.44901643T>C | CA410476276 | ITGB2 | c.590A>G (p.Glu197Gly) c.563A>G (p.Glu188Gly) c.419A>G (p.Glu140Gly) n.733A>G n.471A>G c.*417A>G (n.*417A>G) c.383A>G (p.Glu128Gly) | |
| 21 | g.44901643T>G | CA410476277 | ITGB2 | c.590A>C (p.Glu197Ala) c.563A>C (p.Glu188Ala) c.419A>C (p.Glu140Ala) n.733A>C n.471A>C c.*417A>C (n.*417A>C) c.383A>C (p.Glu128Ala) | |
| 21 | g.44901644C>A | CA410476278 | ITGB2 | c.589G>T (p.Glu197Ter) c.562G>T (p.Glu188Ter) c.418G>T (p.Glu140Ter) n.732G>T n.470G>T c.*416G>T (n.*416G>T) c.382G>T (p.Glu128Ter) | |
| 21 | g.44901644C= | CA2391880242 | ITGB2 | c.589G= (p.Glu197=) c.562G= (p.Glu188=) c.418G= (p.Glu140=) n.732G= n.470G= c.*416G= (n.*416G=) c.382G= (p.Glu128=) | |
| 21 | g.44901644C>G | CA410476279 | ITGB2 | c.589G>C (p.Glu197Gln) c.562G>C (p.Glu188Gln) c.418G>C (p.Glu140Gln) n.732G>C n.470G>C c.*416G>C (n.*416G>C) c.382G>C (p.Glu128Gln) | |
| 21 | g.44901644C>T | CA10063156 | ITGB2 | c.589G>A (p.Glu197Lys) c.562G>A (p.Glu188Lys) c.418G>A (p.Glu140Lys) n.732G>A n.470G>A c.*416G>A (n.*416G>A) c.382G>A (p.Glu128Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44901645T>A | CA410476280 | ITGB2 | c.588A>T (p.Lys196Asn) c.561A>T (p.Lys187Asn) c.417A>T (p.Lys139Asn) n.731A>T n.469A>T c.*415A>T (n.*415A>T) c.381A>T (p.Lys127Asn) | |
| 21 | g.44901645T>C | CA512551742 | ITGB2 | c.588A>G (p.Lys196=) c.561A>G (p.Lys187=) c.417A>G (p.Lys139=) n.731A>G n.469A>G c.*415A>G (n.*415A>G) c.381A>G (p.Lys127=) | dbSNP |
| 21 | g.44901645T>G | CA410476281 | ITGB2 | c.588A>C (p.Lys196Asn) c.561A>C (p.Lys187Asn) c.417A>C (p.Lys139Asn) n.731A>C n.469A>C c.*415A>C (n.*415A>C) c.381A>C (p.Lys127Asn) | |
| 21 | g.44901646_44901647del | CA2577624466 | ITGB2 | c.587_588del (p.Lys196ArgfsTer?) c.560_561del (p.Lys187ArgfsTer?) c.416_417del (p.Lys139ArgfsTer?) n.730_731del n.468_469del c.*414_*415del (n.*414_*415del) c.380_381del (p.Lys127ArgfsTer?) | |
| 21 | g.44901646T>A | CA410476282 | ITGB2 | c.587A>T (p.Lys196Ile) c.560A>T (p.Lys187Ile) c.416A>T (p.Lys139Ile) n.730A>T n.468A>T c.*414A>T (n.*414A>T) c.380A>T (p.Lys127Ile) | |
| 21 | g.44901646T>C | CA410476283 | ITGB2 | c.587A>G (p.Lys196Arg) c.560A>G (p.Lys187Arg) c.416A>G (p.Lys139Arg) n.730A>G n.468A>G c.*414A>G (n.*414A>G) c.380A>G (p.Lys127Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44901646T>G | CA120443 | ITGB2 | c.587A>C (p.Lys196Thr) c.560A>C (p.Lys187Thr) c.416A>C (p.Lys139Thr) n.730A>C n.468A>C c.*414A>C (n.*414A>C) c.380A>C (p.Lys127Thr) | ClinVar dbSNP |
| 21 | g.44901646T= | CA2391880243 | ITGB2 | c.587A= (p.Lys196=) c.560A= (p.Lys187=) c.416A= (p.Lys139=) n.730A= n.468A= c.*414A= (n.*414A=) c.380A= (p.Lys127=) | |
| 21 | g.44901647T>A | CA410476285 | ITGB2 | c.586A>T (p.Lys196Ter) c.559A>T (p.Lys187Ter) c.415A>T (p.Lys139Ter) n.729A>T n.467A>T c.*413A>T (n.*413A>T) c.379A>T (p.Lys127Ter) | |
| 21 | g.44901647T>C | CA410476286 | ITGB2 | c.586A>G (p.Lys196Glu) c.559A>G (p.Lys187Glu) c.415A>G (p.Lys139Glu) n.729A>G n.467A>G c.*413A>G (n.*413A>G) c.379A>G (p.Lys127Glu) | |
| 21 | g.44901647T>G | CA410476284 | ITGB2 | c.586A>C (p.Lys196Gln) c.559A>C (p.Lys187Gln) c.415A>C (p.Lys139Gln) n.729A>C n.467A>C c.*413A>C (n.*413A>C) c.379A>C (p.Lys127Gln) | |
| 21 | g.44901648C>A | CA410476288 | ITGB2 | c.585G>T (p.Glu195Asp) c.558G>T (p.Glu186Asp) c.414G>T (p.Glu138Asp) n.728G>T n.466G>T c.*412G>T (n.*412G>T) c.378G>T (p.Glu126Asp) | |
| 21 | g.44901648C>G | CA410476287 | ITGB2 | c.585G>C (p.Glu195Asp) c.558G>C (p.Glu186Asp) c.414G>C (p.Glu138Asp) n.728G>C n.466G>C c.*412G>C (n.*412G>C) c.378G>C (p.Glu126Asp) | |
| 21 | g.44901648C>T | CA512551743 | ITGB2 | c.585G>A (p.Glu195=) c.558G>A (p.Glu186=) c.414G>A (p.Glu138=) n.728G>A n.466G>A c.*412G>A (n.*412G>A) c.378G>A (p.Glu126=) |