Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.44893410A=CA2391875869ITGB2c.1290T= (p.Asn430=)
c.1218T= (p.Asn406=)
c.1047T= (p.Asn349=)
n.618T=
n.2787T=
c.*1045T= (n.*1045T=)
c.1011T= (p.Asn337=)
21g.44893410A>CCA10062897ITGB2c.1290T>G (p.Asn430Lys)
c.1218T>G (p.Asn406Lys)
c.1047T>G (p.Asn349Lys)
n.618T>G
n.2787T>G
c.*1045T>G (n.*1045T>G)
c.1011T>G (p.Asn337Lys)
dbSNP ExAC gnomAD v4
21g.44893410A>GCA512551494ITGB2c.1290T>C (p.Asn430=)
c.1218T>C (p.Asn406=)
c.1047T>C (p.Asn349=)
n.618T>C
n.2787T>C
c.*1045T>C (n.*1045T>C)
c.1011T>C (p.Asn337=)
gnomAD v4
21g.44893410A>TCA410485626ITGB2c.1290T>A (p.Asn430Lys)
c.1218T>A (p.Asn406Lys)
c.1047T>A (p.Asn349Lys)
n.618T>A
n.2787T>A
c.*1045T>A (n.*1045T>A)
c.1011T>A (p.Asn337Lys)
gnomAD v4
21g.44893411T>ACA410485632ITGB2c.1289A>T (p.Asn430Ile)
c.1217A>T (p.Asn406Ile)
c.1046A>T (p.Asn349Ile)
n.617A>T
n.2786A>T
c.*1044A>T (n.*1044A>T)
c.1010A>T (p.Asn337Ile)
21g.44893411T>CCA410485629ITGB2c.1289A>G (p.Asn430Ser)
c.1217A>G (p.Asn406Ser)
c.1046A>G (p.Asn349Ser)
n.617A>G
n.2786A>G
c.*1044A>G (n.*1044A>G)
c.1010A>G (p.Asn337Ser)
21g.44893411T>GCA410485630ITGB2c.1289A>C (p.Asn430Thr)
c.1217A>C (p.Asn406Thr)
c.1046A>C (p.Asn349Thr)
n.617A>C
n.2786A>C
c.*1044A>C (n.*1044A>C)
c.1010A>C (p.Asn337Thr)
21g.44893412T>ACA410485634ITGB2c.1288A>T (p.Asn430Tyr)
c.1216A>T (p.Asn406Tyr)
c.1045A>T (p.Asn349Tyr)
n.616A>T
n.2785A>T
c.*1043A>T (n.*1043A>T)
c.1009A>T (p.Asn337Tyr)
21g.44893412T>CCA410485635ITGB2c.1288A>G (p.Asn430Asp)
c.1216A>G (p.Asn406Asp)
c.1045A>G (p.Asn349Asp)
n.616A>G
n.2785A>G
c.*1043A>G (n.*1043A>G)
c.1009A>G (p.Asn337Asp)
21g.44893412T>GCA410485637ITGB2c.1288A>C (p.Asn430His)
c.1216A>C (p.Asn406His)
c.1045A>C (p.Asn349His)
n.616A>C
n.2785A>C
c.*1043A>C (n.*1043A>C)
c.1009A>C (p.Asn337His)
21g.44893413G>ACA512551495ITGB2c.1287C>T (p.Ile429=)
c.1215C>T (p.Ile405=)
c.1044C>T (p.Ile348=)
n.615C>T
n.2784C>T
c.*1042C>T (n.*1042C>T)
c.1008C>T (p.Ile336=)
dbSNP
21g.44893413G>CCA410485638ITGB2c.1287C>G (p.Ile429Met)
c.1215C>G (p.Ile405Met)
c.1044C>G (p.Ile348Met)
n.615C>G
n.2784C>G
c.*1042C>G (n.*1042C>G)
c.1008C>G (p.Ile336Met)
21g.44893413G=CA2391875870ITGB2c.1287C= (p.Ile429=)
c.1215C= (p.Ile405=)
c.1044C= (p.Ile348=)
n.615C=
n.2784C=
c.*1042C= (n.*1042C=)
c.1008C= (p.Ile336=)
21g.44893413G>TCA10062898ITGB2c.1287C>A (p.Ile429=)
c.1215C>A (p.Ile405=)
c.1044C>A (p.Ile348=)
n.615C>A
n.2784C>A
c.*1042C>A (n.*1042C>A)
c.1008C>A (p.Ile336=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44893414A>CCA410485640ITGB2c.1286T>G (p.Ile429Ser)
c.1214T>G (p.Ile405Ser)
c.1043T>G (p.Ile348Ser)
n.614T>G
n.2783T>G
c.*1041T>G (n.*1041T>G)
c.1007T>G (p.Ile336Ser)
21g.44893414A>GCA410485642ITGB2c.1286T>C (p.Ile429Thr)
c.1214T>C (p.Ile405Thr)
c.1043T>C (p.Ile348Thr)
n.614T>C
n.2783T>C
c.*1041T>C (n.*1041T>C)
c.1007T>C (p.Ile336Thr)
gnomAD v4
21g.44893414A>TCA410485644ITGB2c.1286T>A (p.Ile429Asn)
c.1214T>A (p.Ile405Asn)
c.1043T>A (p.Ile348Asn)
n.614T>A
n.2783T>A
c.*1041T>A (n.*1041T>A)
c.1007T>A (p.Ile336Asn)
21g.44893415T>ACA410485645ITGB2c.1285A>T (p.Ile429Phe)
c.1213A>T (p.Ile405Phe)
c.1042A>T (p.Ile348Phe)
n.613A>T
n.2782A>T
c.*1040A>T (n.*1040A>T)
c.1006A>T (p.Ile336Phe)
21g.44893415T>CCA10062899ITGB2c.1285A>G (p.Ile429Val)
c.1213A>G (p.Ile405Val)
c.1042A>G (p.Ile348Val)
n.613A>G
n.2782A>G
c.*1040A>G (n.*1040A>G)
c.1006A>G (p.Ile336Val)
dbSNP ExAC gnomAD v2 gnomAD v4
21g.44893415T>GCA410485648ITGB2c.1285A>C (p.Ile429Leu)
c.1213A>C (p.Ile405Leu)
c.1042A>C (p.Ile348Leu)
n.613A>C
n.2782A>C
c.*1040A>C (n.*1040A>C)
c.1006A>C (p.Ile336Leu)
21g.44893415T=CA2391875871ITGB2c.1285A= (p.Ile429=)
c.1213A= (p.Ile405=)
c.1042A= (p.Ile348=)
n.613A=
n.2782A=
c.*1040A= (n.*1040A=)
c.1006A= (p.Ile336=)
21g.44893416C>ACA410485652ITGB2c.1284G>T (p.Gln428His)
c.1212G>T (p.Gln404His)
c.1041G>T (p.Gln347His)
n.612G>T
n.2781G>T
c.*1039G>T (n.*1039G>T)
c.1005G>T (p.Gln335His)
21g.44893416C=CA2391875872ITGB2c.1284G= (p.Gln428=)
c.1212G= (p.Gln404=)
c.1041G= (p.Gln347=)
n.612G=
n.2781G=
c.*1039G= (n.*1039G=)
c.1005G= (p.Gln335=)
21g.44893416C>GCA410485650ITGB2c.1284G>C (p.Gln428His)
c.1212G>C (p.Gln404His)
c.1041G>C (p.Gln347His)
n.612G>C
n.2781G>C
c.*1039G>C (n.*1039G>C)
c.1005G>C (p.Gln335His)
21g.44893416C>TCA10062900ITGB2c.1284G>A (p.Gln428=)
c.1212G>A (p.Gln404=)
c.1041G>A (p.Gln347=)
n.612G>A
n.2781G>A
c.*1039G>A (n.*1039G>A)
c.1005G>A (p.Gln335=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.44893417T>ACA410485654ITGB2c.1283A>T (p.Gln428Leu)
c.1211A>T (p.Gln404Leu)
c.1040A>T (p.Gln347Leu)
n.611A>T
n.2780A>T
c.*1038A>T (n.*1038A>T)
c.1004A>T (p.Gln335Leu)
21g.44893417T>CCA410485655ITGB2c.1283A>G (p.Gln428Arg)
c.1211A>G (p.Gln404Arg)
c.1040A>G (p.Gln347Arg)
n.611A>G
n.2780A>G
c.*1038A>G (n.*1038A>G)
c.1004A>G (p.Gln335Arg)
21g.44893417T>GCA410485657ITGB2c.1283A>C (p.Gln428Pro)
c.1211A>C (p.Gln404Pro)
c.1040A>C (p.Gln347Pro)
n.611A>C
n.2780A>C
c.*1038A>C (n.*1038A>C)
c.1004A>C (p.Gln335Pro)
21g.44893418G>ACA410485659ITGB2c.1282C>T (p.Gln428Ter)
c.1210C>T (p.Gln404Ter)
c.1039C>T (p.Gln347Ter)
n.610C>T
n.2779C>T
c.*1037C>T (n.*1037C>T)
c.1003C>T (p.Gln335Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.44893418G>CCA410485661ITGB2c.1282C>G (p.Gln428Glu)
c.1210C>G (p.Gln404Glu)
c.1039C>G (p.Gln347Glu)
n.610C>G
n.2779C>G
c.*1037C>G (n.*1037C>G)
c.1003C>G (p.Gln335Glu)
21g.44893418G=CA2391875873ITGB2c.1282C= (p.Gln428=)
c.1210C= (p.Gln404=)
c.1039C= (p.Gln347=)
n.610C=
n.2779C=
c.*1037C= (n.*1037C=)
c.1003C= (p.Gln335=)
21g.44893418G>TCA410485662ITGB2c.1282C>A (p.Gln428Lys)
c.1210C>A (p.Gln404Lys)
c.1039C>A (p.Gln347Lys)
n.610C>A
n.2779C>A
c.*1037C>A (n.*1037C>A)
c.1003C>A (p.Gln335Lys)
21g.44893419C>ACA512551502ITGB2c.1281G>T (p.Val427=)
c.1209G>T (p.Val403=)
c.1038G>T (p.Val346=)
n.609G>T
n.2778G>T
c.*1036G>T (n.*1036G>T)
c.1002G>T (p.Val334=)
21g.44893419C>GCA512551501ITGB2c.1281G>C (p.Val427=)
c.1209G>C (p.Val403=)
c.1038G>C (p.Val346=)
n.609G>C
n.2778G>C
c.*1036G>C (n.*1036G>C)
c.1002G>C (p.Val334=)
21g.44893419C>TCA512551500ITGB2c.1281G>A (p.Val427=)
c.1209G>A (p.Val403=)
c.1038G>A (p.Val346=)
n.609G>A
n.2778G>A
c.*1036G>A (n.*1036G>A)
c.1002G>A (p.Val334=)
21g.44893420A>CCA410485664ITGB2c.1280T>G (p.Val427Gly)
c.1208T>G (p.Val403Gly)
c.1037T>G (p.Val346Gly)
n.608T>G
n.2777T>G
c.*1035T>G (n.*1035T>G)
c.1001T>G (p.Val334Gly)
21g.44893420A>GCA410485665ITGB2c.1280T>C (p.Val427Ala)
c.1208T>C (p.Val403Ala)
c.1037T>C (p.Val346Ala)
n.608T>C
n.2777T>C
c.*1035T>C (n.*1035T>C)
c.1001T>C (p.Val334Ala)
21g.44893420A>TCA410485667ITGB2c.1280T>A (p.Val427Glu)
c.1208T>A (p.Val403Glu)
c.1037T>A (p.Val346Glu)
n.608T>A
n.2777T>A
c.*1035T>A (n.*1035T>A)
c.1001T>A (p.Val334Glu)
21g.44893421C>ACA410485669ITGB2c.1279G>T (p.Val427Leu)
c.1207G>T (p.Val403Leu)
c.1036G>T (p.Val346Leu)
n.607G>T
n.2776G>T
c.*1034G>T (n.*1034G>T)
c.1000G>T (p.Val334Leu)
21g.44893421C=CA2391875874ITGB2c.1279G= (p.Val427=)
c.1207G= (p.Val403=)
c.1036G= (p.Val346=)
n.607G=
n.2776G=
c.*1034G= (n.*1034G=)
c.1000G= (p.Val334=)
21g.44893421C>GCA410485671ITGB2c.1279G>C (p.Val427Leu)
c.1207G>C (p.Val403Leu)
c.1036G>C (p.Val346Leu)
n.607G>C
n.2776G>C
c.*1034G>C (n.*1034G>C)
c.1000G>C (p.Val334Leu)
21g.44893421C>TCA10062901ITGB2c.1279G>A (p.Val427Met)
c.1207G>A (p.Val403Met)
c.1036G>A (p.Val346Met)
n.607G>A
n.2776G>A
c.*1034G>A (n.*1034G>A)
c.1000G>A (p.Val334Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.44893422_44893423delCA2654866986ITGB2c.1278_1279del (p.Val427AlafsTer?)
c.1206_1207del (p.Val403AlafsTer?)
c.1035_1036del (p.Val346AlafsTer?)
n.606_607del
n.2775_2776del
c.*1033_*1034del (n.*1033_*1034del)
c.999_1000del (p.Val334AlafsTer?)
gnomAD v4
21g.44893422G>ACA10062902ITGB2c.1278C>T (p.Gly426=)
c.1206C>T (p.Gly402=)
c.1035C>T (p.Gly345=)
n.606C>T
n.2775C>T
c.*1033C>T (n.*1033C>T)
c.999C>T (p.Gly333=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.44893422G>CCA512551506ITGB2c.1278C>G (p.Gly426=)
c.1206C>G (p.Gly402=)
c.1035C>G (p.Gly345=)
n.606C>G
n.2775C>G
c.*1033C>G (n.*1033C>G)
c.999C>G (p.Gly333=)
21g.44893422G=CA2391875875ITGB2c.1278C= (p.Gly426=)
c.1206C= (p.Gly402=)
c.1035C= (p.Gly345=)
n.606C=
n.2775C=
c.*1033C= (n.*1033C=)
c.999C= (p.Gly333=)
21g.44893422G>TCA512551507ITGB2c.1278C>A (p.Gly426=)
c.1206C>A (p.Gly402=)
c.1035C>A (p.Gly345=)
n.606C>A
n.2775C>A
c.*1033C>A (n.*1033C>A)
c.999C>A (p.Gly333=)
21g.44893423C>ACA410485678ITGB2c.1277G>T (p.Gly426Val)
c.1205G>T (p.Gly402Val)
c.1034G>T (p.Gly345Val)
n.605G>T
n.2774G>T
c.*1032G>T (n.*1032G>T)
c.998G>T (p.Gly333Val)
21g.44893423C>GCA410485674ITGB2c.1277G>C (p.Gly426Ala)
c.1205G>C (p.Gly402Ala)
c.1034G>C (p.Gly345Ala)
n.605G>C
n.2774G>C
c.*1032G>C (n.*1032G>C)
c.998G>C (p.Gly333Ala)
21g.44893423C>TCA410485676ITGB2c.1277G>A (p.Gly426Asp)
c.1205G>A (p.Gly402Asp)
c.1034G>A (p.Gly345Asp)
n.605G>A
n.2774G>A
c.*1032G>A (n.*1032G>A)
c.998G>A (p.Gly333Asp)
ClinVar dbSNP gnomAD v4
21g.44893424C>ACA410485679ITGB2c.1276G>T (p.Gly426Cys)
c.1204G>T (p.Gly402Cys)
c.1033G>T (p.Gly345Cys)
n.604G>T
n.2773G>T
c.*1031G>T (n.*1031G>T)
c.997G>T (p.Gly333Cys)
21g.44893424C>GCA410485681ITGB2c.1276G>C (p.Gly426Arg)
c.1204G>C (p.Gly402Arg)
c.1033G>C (p.Gly345Arg)
n.604G>C
n.2773G>C
c.*1031G>C (n.*1031G>C)
c.997G>C (p.Gly333Arg)
21g.44893424C>TCA410485683ITGB2c.1276G>A (p.Gly426Ser)
c.1204G>A (p.Gly402Ser)
c.1033G>A (p.Gly345Ser)
n.604G>A
n.2773G>A
c.*1031G>A (n.*1031G>A)
c.997G>A (p.Gly333Ser)
gnomAD v4
21g.44893425A>CCA410485685ITGB2c.1275T>G (p.Asp425Glu)
c.1203T>G (p.Asp401Glu)
c.1032T>G (p.Asp344Glu)
n.603T>G
n.2772T>G
c.*1030T>G (n.*1030T>G)
c.996T>G (p.Asp332Glu)
21g.44893425A>GCA512551509ITGB2c.1275T>C (p.Asp425=)
c.1203T>C (p.Asp401=)
c.1032T>C (p.Asp344=)
n.603T>C
n.2772T>C
c.*1030T>C (n.*1030T>C)
c.996T>C (p.Asp332=)
gnomAD v4
21g.44893425A>TCA410485686ITGB2c.1275T>A (p.Asp425Glu)
c.1203T>A (p.Asp401Glu)
c.1032T>A (p.Asp344Glu)
n.603T>A
n.2772T>A
c.*1030T>A (n.*1030T>A)
c.996T>A (p.Asp332Glu)
dbSNP
21g.44893426T>ACA410485689ITGB2c.1274A>T (p.Asp425Val)
c.1202A>T (p.Asp401Val)
c.1031A>T (p.Asp344Val)
n.602A>T
n.2771A>T
c.*1029A>T (n.*1029A>T)
c.995A>T (p.Asp332Val)
21g.44893426T>CCA410485690ITGB2c.1274A>G (p.Asp425Gly)
c.1202A>G (p.Asp401Gly)
c.1031A>G (p.Asp344Gly)
n.602A>G
n.2771A>G
c.*1029A>G (n.*1029A>G)
c.995A>G (p.Asp332Gly)
ClinVar dbSNP gnomAD v4
21g.44893426T>GCA410485692ITGB2c.1274A>C (p.Asp425Ala)
c.1202A>C (p.Asp401Ala)
c.1031A>C (p.Asp344Ala)
n.602A>C
n.2771A>C
c.*1029A>C (n.*1029A>C)
c.995A>C (p.Asp332Ala)
21g.44893426T=CA2391875876ITGB2c.1274A= (p.Asp425=)
c.1202A= (p.Asp401=)
c.1031A= (p.Asp344=)
n.602A=
n.2771A=
c.*1029A= (n.*1029A=)
c.995A= (p.Asp332=)
21g.44893427C>ACA410485693ITGB2c.1273G>T (p.Asp425Tyr)
c.1201G>T (p.Asp401Tyr)
c.1030G>T (p.Asp344Tyr)
n.601G>T
n.2770G>T
c.*1028G>T (n.*1028G>T)
c.994G>T (p.Asp332Tyr)
21g.44893427C>GCA410485695ITGB2c.1273G>C (p.Asp425His)
c.1201G>C (p.Asp401His)
c.1030G>C (p.Asp344His)
n.601G>C
n.2770G>C
c.*1028G>C (n.*1028G>C)
c.994G>C (p.Asp332His)
21g.44893427C>TCA410485697ITGB2c.1273G>A (p.Asp425Asn)
c.1201G>A (p.Asp401Asn)
c.1030G>A (p.Asp344Asn)
n.601G>A
n.2770G>A
c.*1028G>A (n.*1028G>A)
c.994G>A (p.Asp332Asn)
21g.44893428A=CA2391875877ITGB2c.1272T= (p.Cys424=)
c.1200T= (p.Cys400=)
c.1029T= (p.Cys343=)
n.600T=
n.2769T=
c.*1027T= (n.*1027T=)
c.993T= (p.Cys331=)
21g.44893428A>CCA410485701ITGB2c.1272T>G (p.Cys424Trp)
c.1200T>G (p.Cys400Trp)
c.1029T>G (p.Cys343Trp)
n.600T>G
n.2769T>G
c.*1027T>G (n.*1027T>G)
c.993T>G (p.Cys331Trp)
21g.44893428A>GCA10062903ITGB2c.1272T>C (p.Cys424=)
c.1200T>C (p.Cys400=)
c.1029T>C (p.Cys343=)
n.600T>C
n.2769T>C
c.*1027T>C (n.*1027T>C)
c.993T>C (p.Cys331=)
dbSNP ExAC gnomAD v3 gnomAD v4
21g.44893428A>TCA410485699ITGB2c.1272T>A (p.Cys424Ter)
c.1200T>A (p.Cys400Ter)
c.1029T>A (p.Cys343Ter)
n.600T>A
n.2769T>A
c.*1027T>A (n.*1027T>A)
c.993T>A (p.Cys331Ter)
21g.44893429C>ACA410485702ITGB2c.1271G>T (p.Cys424Phe)
c.1199G>T (p.Cys400Phe)
c.1028G>T (p.Cys343Phe)
n.599G>T
n.2768G>T
c.*1026G>T (n.*1026G>T)
c.992G>T (p.Cys331Phe)
21g.44893429C>GCA410485704ITGB2c.1271G>C (p.Cys424Ser)
c.1199G>C (p.Cys400Ser)
c.1028G>C (p.Cys343Ser)
n.599G>C
n.2768G>C
c.*1026G>C (n.*1026G>C)
c.992G>C (p.Cys331Ser)
21g.44893429C>TCA410485706ITGB2c.1271G>A (p.Cys424Tyr)
c.1199G>A (p.Cys400Tyr)
c.1028G>A (p.Cys343Tyr)
n.599G>A
n.2768G>A
c.*1026G>A (n.*1026G>A)
c.992G>A (p.Cys331Tyr)
21g.44893430A=CA2391875878ITGB2c.1270T= (p.Cys424=)
c.1198T= (p.Cys400=)
c.1027T= (p.Cys343=)
n.598T=
n.2767T=
c.*1025T= (n.*1025T=)
c.991T= (p.Cys331=)
21g.44893430A>CCA10062904ITGB2c.1270T>G (p.Cys424Gly)
c.1198T>G (p.Cys400Gly)
c.1027T>G (p.Cys343Gly)
n.598T>G
n.2767T>G
c.*1025T>G (n.*1025T>G)
c.991T>G (p.Cys331Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
21g.44893430A>GCA10062905ITGB2c.1270T>C (p.Cys424Arg)
c.1198T>C (p.Cys400Arg)
c.1027T>C (p.Cys343Arg)
n.598T>C
n.2767T>C
c.*1025T>C (n.*1025T>C)
c.991T>C (p.Cys331Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
21g.44893430A>TCA410485708ITGB2c.1270T>A (p.Cys424Ser)
c.1198T>A (p.Cys400Ser)
c.1027T>A (p.Cys343Ser)
n.598T>A
n.2767T>A
c.*1025T>A (n.*1025T>A)
c.991T>A (p.Cys331Ser)
21g.44893431G>ACA512551514ITGB2c.1269C>T (p.Asp423=)
c.1197C>T (p.Asp399=)
c.1026C>T (p.Asp342=)
n.597C>T
n.2766C>T
c.*1024C>T (n.*1024C>T)
c.990C>T (p.Asp330=)
21g.44893431G>CCA410485711ITGB2c.1269C>G (p.Asp423Glu)
c.1197C>G (p.Asp399Glu)
c.1026C>G (p.Asp342Glu)
n.597C>G
n.2766C>G
c.*1024C>G (n.*1024C>G)
c.990C>G (p.Asp330Glu)
21g.44893431G>TCA410485710ITGB2c.1269C>A (p.Asp423Glu)
c.1197C>A (p.Asp399Glu)
c.1026C>A (p.Asp342Glu)
n.597C>A
n.2766C>A
c.*1024C>A (n.*1024C>A)
c.990C>A (p.Asp330Glu)
21g.44893432T>ACA410485712ITGB2c.1268A>T (p.Asp423Val)
c.1196A>T (p.Asp399Val)
c.1025A>T (p.Asp342Val)
n.596A>T
n.2765A>T
c.*1023A>T (n.*1023A>T)
c.989A>T (p.Asp330Val)
21g.44893432T>CCA410485714ITGB2c.1268A>G (p.Asp423Gly)
c.1196A>G (p.Asp399Gly)
c.1025A>G (p.Asp342Gly)
n.596A>G
n.2765A>G
c.*1023A>G (n.*1023A>G)
c.989A>G (p.Asp330Gly)
21g.44893432T>GCA410485716ITGB2c.1268A>C (p.Asp423Ala)
c.1196A>C (p.Asp399Ala)
c.1025A>C (p.Asp342Ala)
n.596A>C
n.2765A>C
c.*1023A>C (n.*1023A>C)
c.989A>C (p.Asp330Ala)
21g.44893433C>ACA410485718ITGB2c.1267G>T (p.Asp423Tyr)
c.1195G>T (p.Asp399Tyr)
c.1024G>T (p.Asp342Tyr)
n.595G>T
n.2764G>T
c.*1022G>T (n.*1022G>T)
c.988G>T (p.Asp330Tyr)
gnomAD v4
21g.44893433C=CA2391875879ITGB2c.1267G= (p.Asp423=)
c.1195G= (p.Asp399=)
c.1024G= (p.Asp342=)
n.595G=
n.2764G=
c.*1022G= (n.*1022G=)
c.988G= (p.Asp330=)
21g.44893433C>GCA410485719ITGB2c.1267G>C (p.Asp423His)
c.1195G>C (p.Asp399His)
c.1024G>C (p.Asp342His)
n.595G>C
n.2764G>C
c.*1022G>C (n.*1022G>C)
c.988G>C (p.Asp330His)
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.44893433C>TCA410485721ITGB2c.1267G>A (p.Asp423Asn)
c.1195G>A (p.Asp399Asn)
c.1024G>A (p.Asp342Asn)
n.595G>A
n.2764G>A
c.*1022G>A (n.*1022G>A)
c.988G>A (p.Asp330Asn)
21g.44893434A>CCA512551516ITGB2c.1266T>G (p.Gly422=)
c.1194T>G (p.Gly398=)
c.1023T>G (p.Gly341=)
n.594T>G
n.2763T>G
c.*1021T>G (n.*1021T>G)
c.987T>G (p.Gly329=)
21g.44893434A>GCA512551517ITGB2c.1266T>C (p.Gly422=)
c.1194T>C (p.Gly398=)
c.1023T>C (p.Gly341=)
n.594T>C
n.2763T>C
c.*1021T>C (n.*1021T>C)
c.987T>C (p.Gly329=)
21g.44893434A>TCA512551518ITGB2c.1266T>A (p.Gly422=)
c.1194T>A (p.Gly398=)
c.1023T>A (p.Gly341=)
n.594T>A
n.2763T>A
c.*1021T>A (n.*1021T>A)
c.987T>A (p.Gly329=)
21g.44893435C>ACA410485726ITGB2c.1265G>T (p.Gly422Val)
c.1193G>T (p.Gly398Val)
c.1022G>T (p.Gly341Val)
n.593G>T
n.2762G>T
c.*1020G>T (n.*1020G>T)
c.986G>T (p.Gly329Val)
21g.44893435C>GCA410485723ITGB2c.1265G>C (p.Gly422Ala)
c.1193G>C (p.Gly398Ala)
c.1022G>C (p.Gly341Ala)
n.593G>C
n.2762G>C
c.*1020G>C (n.*1020G>C)
c.986G>C (p.Gly329Ala)
21g.44893435C>TCA410485724ITGB2c.1265G>A (p.Gly422Asp)
c.1193G>A (p.Gly398Asp)
c.1022G>A (p.Gly341Asp)
n.593G>A
n.2762G>A
c.*1020G>A (n.*1020G>A)
c.986G>A (p.Gly329Asp)
gnomAD v4
21g.44893436delCA2654867011ITGB2c.1265del (p.Gly422ValfsTer16)
c.1193del (p.Gly398ValfsTer16)
c.1022del (p.Gly341ValfsTer16)
n.593del
n.2762del
c.*1020del (n.*1020del)
c.986del (p.Gly329ValfsTer16)
gnomAD v4
21g.44893436C>ACA410485728ITGB2c.1264G>T (p.Gly422Cys)
c.1192G>T (p.Gly398Cys)
c.1021G>T (p.Gly341Cys)
n.592G>T
n.2761G>T
c.*1019G>T (n.*1019G>T)
c.985G>T (p.Gly329Cys)
COSMIC
21g.44893436C=CA2391875880ITGB2c.1264G= (p.Gly422=)
c.1192G= (p.Gly398=)
c.1021G= (p.Gly341=)
n.592G=
n.2761G=
c.*1019G= (n.*1019G=)
c.985G= (p.Gly329=)
21g.44893436C>GCA410485730ITGB2c.1264G>C (p.Gly422Arg)
c.1192G>C (p.Gly398Arg)
c.1021G>C (p.Gly341Arg)
n.592G>C
n.2761G>C
c.*1019G>C (n.*1019G>C)
c.985G>C (p.Gly329Arg)
gnomAD v4
21g.44893436C>TCA410485732ITGB2c.1264G>A (p.Gly422Ser)
c.1192G>A (p.Gly398Ser)
c.1021G>A (p.Gly341Ser)
n.592G>A
n.2761G>A
c.*1019G>A (n.*1019G>A)
c.985G>A (p.Gly329Ser)
dbSNP
21g.44893437T>ACA410485733ITGB2c.1263A>T (p.Arg421Ser)
c.1191A>T (p.Arg397Ser)
c.1020A>T (p.Arg340Ser)
n.591A>T
n.2760A>T
c.*1018A>T (n.*1018A>T)
c.984A>T (p.Arg328Ser)
gnomAD v4
21g.44893437T>CCA512551522ITGB2c.1263A>G (p.Arg421=)
c.1191A>G (p.Arg397=)
c.1020A>G (p.Arg340=)
n.591A>G
n.2760A>G
c.*1018A>G (n.*1018A>G)
c.984A>G (p.Arg328=)
21g.44893437T>GCA410485735ITGB2c.1263A>C (p.Arg421Ser)
c.1191A>C (p.Arg397Ser)
c.1020A>C (p.Arg340Ser)
n.591A>C
n.2760A>C
c.*1018A>C (n.*1018A>C)
c.984A>C (p.Arg328Ser)
21g.44893438C>ACA410485736ITGB2c.1262G>T (p.Arg421Ile)
c.1190G>T (p.Arg397Ile)
c.1019G>T (p.Arg340Ile)
n.590G>T
n.2759G>T
c.*1017G>T (n.*1017G>T)
c.983G>T (p.Arg328Ile)
21g.44893438C=CA2391875881ITGB2c.1262G= (p.Arg421=)
c.1190G= (p.Arg397=)
c.1019G= (p.Arg340=)
n.590G=
n.2759G=
c.*1017G= (n.*1017G=)
c.983G= (p.Arg328=)
21g.44893438C>GCA321897506ITGB2c.1262G>C (p.Arg421Thr)
c.1190G>C (p.Arg397Thr)
c.1019G>C (p.Arg340Thr)
n.590G>C
n.2759G>C
c.*1017G>C (n.*1017G>C)
c.983G>C (p.Arg328Thr)
dbSNP
21g.44893438C>TCA410485738ITGB2c.1262G>A (p.Arg421Lys)
c.1190G>A (p.Arg397Lys)
c.1019G>A (p.Arg340Lys)
n.590G>A
n.2759G>A
c.*1017G>A (n.*1017G>A)
c.983G>A (p.Arg328Lys)
21g.44893439T>ACA410485739ITGB2c.1261A>T (p.Arg421Ter)
c.1189A>T (p.Arg397Ter)
c.1018A>T (p.Arg340Ter)
n.589A>T
n.2758A>T
c.*1016A>T (n.*1016A>T)
c.982A>T (p.Arg328Ter)
21g.44893439T>CCA410485741ITGB2c.1261A>G (p.Arg421Gly)
c.1189A>G (p.Arg397Gly)
c.1018A>G (p.Arg340Gly)
n.589A>G
n.2758A>G
c.*1016A>G (n.*1016A>G)
c.982A>G (p.Arg328Gly)
21g.44893439T>GCA512551523ITGB2c.1261A>C (p.Arg421=)
c.1189A>C (p.Arg397=)
c.1018A>C (p.Arg340=)
n.589A>C
n.2758A>C
c.*1016A>C (n.*1016A>C)
c.982A>C (p.Arg328=)
21g.44893440G>ACA512551524ITGB2c.1260C>T (p.Pro420=)
c.1188C>T (p.Pro396=)
c.1017C>T (p.Pro339=)
n.588C>T
n.2757C>T
c.*1015C>T (n.*1015C>T)
c.981C>T (p.Pro327=)
dbSNP gnomAD v2
21g.44893440G>CCA512551525ITGB2c.1260C>G (p.Pro420=)
c.1188C>G (p.Pro396=)
c.1017C>G (p.Pro339=)
n.588C>G
n.2757C>G
c.*1015C>G (n.*1015C>G)
c.981C>G (p.Pro327=)
21g.44893440G=CA2391875882ITGB2c.1260C= (p.Pro420=)
c.1188C= (p.Pro396=)
c.1017C= (p.Pro339=)
n.588C=
n.2757C=
c.*1015C= (n.*1015C=)
c.981C= (p.Pro327=)
21g.44893440G>TCA512551526ITGB2c.1260C>A (p.Pro420=)
c.1188C>A (p.Pro396=)
c.1017C>A (p.Pro339=)
n.588C>A
n.2757C>A
c.*1015C>A (n.*1015C>A)
c.981C>A (p.Pro327=)
21g.44893441G>ACA321897508ITGB2c.1259C>T (p.Pro420Leu)
c.1187C>T (p.Pro396Leu)
c.1016C>T (p.Pro339Leu)
n.587C>T
n.2756C>T
c.*1014C>T (n.*1014C>T)
c.980C>T (p.Pro327Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.44893441G>CCA410485743ITGB2c.1259C>G (p.Pro420Arg)
c.1187C>G (p.Pro396Arg)
c.1016C>G (p.Pro339Arg)
n.587C>G
n.2756C>G
c.*1014C>G (n.*1014C>G)
c.980C>G (p.Pro327Arg)
21g.44893441G=CA2391875883ITGB2c.1259C= (p.Pro420=)
c.1187C= (p.Pro396=)
c.1016C= (p.Pro339=)
n.587C=
n.2756C=
c.*1014C= (n.*1014C=)
c.980C= (p.Pro327=)
21g.44893441G>TCA410485745ITGB2c.1259C>A (p.Pro420His)
c.1187C>A (p.Pro396His)
c.1016C>A (p.Pro339His)
n.587C>A
n.2756C>A
c.*1014C>A (n.*1014C>A)
c.980C>A (p.Pro327His)
21g.44893442G>ACA321897509ITGB2c.1258C>T (p.Pro420Ser)
c.1186C>T (p.Pro396Ser)
c.1015C>T (p.Pro339Ser)
n.586C>T
n.2755C>T
c.*1013C>T (n.*1013C>T)
c.979C>T (p.Pro327Ser)
dbSNP
21g.44893442G>CCA410485749ITGB2c.1258C>G (p.Pro420Ala)
c.1186C>G (p.Pro396Ala)
c.1015C>G (p.Pro339Ala)
n.586C>G
n.2755C>G
c.*1013C>G (n.*1013C>G)
c.979C>G (p.Pro327Ala)
21g.44893442G=CA2391875884ITGB2c.1258C= (p.Pro420=)
c.1186C= (p.Pro396=)
c.1015C= (p.Pro339=)
n.586C=
n.2755C=
c.*1013C= (n.*1013C=)
c.979C= (p.Pro327=)
21g.44893442G>TCA410485748ITGB2c.1258C>A (p.Pro420Thr)
c.1186C>A (p.Pro396Thr)
c.1015C>A (p.Pro339Thr)
n.586C>A
n.2755C>A
c.*1013C>A (n.*1013C>A)
c.979C>A (p.Pro327Thr)
21g.44893443C>ACA410485750ITGB2c.1257G>T (p.Gln419His)
c.1185G>T (p.Gln395His)
c.1014G>T (p.Gln338His)
n.585G>T
n.2754G>T
c.*1012G>T (n.*1012G>T)
c.978G>T (p.Gln326His)
21g.44893443C=CA2391875885ITGB2c.1257G= (p.Gln419=)
c.1185G= (p.Gln395=)
c.1014G= (p.Gln338=)
n.585G=
n.2754G=
c.*1012G= (n.*1012G=)
c.978G= (p.Gln326=)
21g.44893443C>GCA410485752ITGB2c.1257G>C (p.Gln419His)
c.1185G>C (p.Gln395His)
c.1014G>C (p.Gln338His)
n.585G>C
n.2754G>C
c.*1012G>C (n.*1012G>C)
c.978G>C (p.Gln326His)
dbSNP gnomAD v2 gnomAD v4
21g.44893443C>TCA512551527ITGB2c.1257G>A (p.Gln419=)
c.1185G>A (p.Gln395=)
c.1014G>A (p.Gln338=)
n.585G>A
n.2754G>A
c.*1012G>A (n.*1012G>A)
c.978G>A (p.Gln326=)
21g.44893444T>ACA410485754ITGB2c.1256A>T (p.Gln419Leu)
c.1184A>T (p.Gln395Leu)
c.1013A>T (p.Gln338Leu)
n.584A>T
n.2753A>T
c.*1011A>T (n.*1011A>T)
c.977A>T (p.Gln326Leu)
21g.44893444T>CCA410485756ITGB2c.1256A>G (p.Gln419Arg)
c.1184A>G (p.Gln395Arg)
c.1013A>G (p.Gln338Arg)
n.584A>G
n.2753A>G
c.*1011A>G (n.*1011A>G)
c.977A>G (p.Gln326Arg)
21g.44893444T>GCA410485757ITGB2c.1256A>C (p.Gln419Pro)
c.1184A>C (p.Gln395Pro)
c.1013A>C (p.Gln338Pro)
n.584A>C
n.2753A>C
c.*1011A>C (n.*1011A>C)
c.977A>C (p.Gln326Pro)
21g.44893445G>ACA10062906ITGB2c.1255C>T (p.Gln419Ter)
c.1183C>T (p.Gln395Ter)
c.1012C>T (p.Gln338Ter)
n.583C>T
n.2752C>T
c.*1010C>T (n.*1010C>T)
c.976C>T (p.Gln326Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
21g.44893445G>CCA410485759ITGB2c.1255C>G (p.Gln419Glu)
c.1183C>G (p.Gln395Glu)
c.1012C>G (p.Gln338Glu)
n.583C>G
n.2752C>G
c.*1010C>G (n.*1010C>G)
c.976C>G (p.Gln326Glu)
gnomAD v4
21g.44893445G=CA2391875886ITGB2c.1255C= (p.Gln419=)
c.1183C= (p.Gln395=)
c.1012C= (p.Gln338=)
n.583C=
n.2752C=
c.*1010C= (n.*1010C=)
c.976C= (p.Gln326=)
21g.44893445G>TCA410485761ITGB2c.1255C>A (p.Gln419Lys)
c.1183C>A (p.Gln395Lys)
c.1012C>A (p.Gln338Lys)
n.583C>A
n.2752C>A
c.*1010C>A (n.*1010C>A)
c.976C>A (p.Gln326Lys)
21g.44893446G>ACA512551528ITGB2c.1254C>T (p.Asn418=)
c.1182C>T (p.Asn394=)
c.1011C>T (p.Asn337=)
n.582C>T
n.2751C>T
c.*1009C>T (n.*1009C>T)
c.975C>T (p.Asn325=)
21g.44893446G>CCA410485762ITGB2c.1254C>G (p.Asn418Lys)
c.1182C>G (p.Asn394Lys)
c.1011C>G (p.Asn337Lys)
n.582C>G
n.2751C>G
c.*1009C>G (n.*1009C>G)
c.975C>G (p.Asn325Lys)
21g.44893446G>TCA410485764ITGB2c.1254C>A (p.Asn418Lys)
c.1182C>A (p.Asn394Lys)
c.1011C>A (p.Asn337Lys)
n.582C>A
n.2751C>A
c.*1009C>A (n.*1009C>A)
c.975C>A (p.Asn325Lys)
gnomAD v4
21g.44893447T>ACA410485766ITGB2c.1253A>T (p.Asn418Ile)
c.1181A>T (p.Asn394Ile)
c.1010A>T (p.Asn337Ile)
n.581A>T
n.2750A>T
c.*1008A>T (n.*1008A>T)
c.974A>T (p.Asn325Ile)
21g.44893447T>CCA410485767ITGB2c.1253A>G (p.Asn418Ser)
c.1181A>G (p.Asn394Ser)
c.1010A>G (p.Asn337Ser)
n.581A>G
n.2750A>G
c.*1008A>G (n.*1008A>G)
c.974A>G (p.Asn325Ser)
21g.44893447T>GCA410485769ITGB2c.1253A>C (p.Asn418Thr)
c.1181A>C (p.Asn394Thr)
c.1010A>C (p.Asn337Thr)
n.581A>C
n.2750A>C
c.*1008A>C (n.*1008A>C)
c.974A>C (p.Asn325Thr)
21g.44893448T>ACA410485771ITGB2c.1252A>T (p.Asn418Tyr)
c.1180A>T (p.Asn394Tyr)
c.1009A>T (p.Asn337Tyr)
n.580A>T
n.2749A>T
c.*1007A>T (n.*1007A>T)
c.973A>T (p.Asn325Tyr)
21g.44893448T>CCA410485774ITGB2c.1252A>G (p.Asn418Asp)
c.1180A>G (p.Asn394Asp)
c.1009A>G (p.Asn337Asp)
n.580A>G
n.2749A>G
c.*1007A>G (n.*1007A>G)
c.973A>G (p.Asn325Asp)
21g.44893448T>GCA410485773ITGB2c.1252A>C (p.Asn418His)
c.1180A>C (p.Asn394His)
c.1009A>C (p.Asn337His)
n.580A>C
n.2749A>C
c.*1007A>C (n.*1007A>C)
c.973A>C (p.Asn325His)
21g.44893451_44893463delCA2580098846ITGB2c.1240_1252del (p.Val414ThrfsTer20)
c.1168_1180del (p.Val390ThrfsTer20)
c.997_1009del (p.Val333ThrfsTer20)
n.568_580del
n.2737_2749del
c.*995_*1007del (n.*995_*1007del)
c.961_973del (p.Val321ThrfsTer20)
ClinVar
21g.44893449C>ACA410485775ITGB2c.1251G>T (p.Arg417Ser)
c.1179G>T (p.Arg393Ser)
c.1008G>T (p.Arg336Ser)
n.579G>T
n.2748G>T
c.*1006G>T (n.*1006G>T)
c.972G>T (p.Arg324Ser)
21g.44893449C=CA2391875887ITGB2c.1251G= (p.Arg417=)
c.1179G= (p.Arg393=)
c.1008G= (p.Arg336=)
n.579G=
n.2748G=
c.*1006G= (n.*1006G=)
c.972G= (p.Arg324=)
21g.44893449C>GCA410485776ITGB2c.1251G>C (p.Arg417Ser)
c.1179G>C (p.Arg393Ser)
c.1008G>C (p.Arg336Ser)
n.579G>C
n.2748G>C
c.*1006G>C (n.*1006G>C)
c.972G>C (p.Arg324Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.44893449C>TCA512551531ITGB2c.1251G>A (p.Arg417=)
c.1179G>A (p.Arg393=)
c.1008G>A (p.Arg336=)
n.579G>A
n.2748G>A
c.*1006G>A (n.*1006G>A)
c.972G>A (p.Arg324=)
21g.44893450C>ACA410485778ITGB2c.1250G>T (p.Arg417Met)
c.1178G>T (p.Arg393Met)
c.1007G>T (p.Arg336Met)
n.578G>T
n.2747G>T
c.*1005G>T (n.*1005G>T)
c.971G>T (p.Arg324Met)
21g.44893450C>GCA410485780ITGB2c.1250G>C (p.Arg417Thr)
c.1178G>C (p.Arg393Thr)
c.1007G>C (p.Arg336Thr)
n.578G>C
n.2747G>C
c.*1005G>C (n.*1005G>C)
c.971G>C (p.Arg324Thr)
21g.44893450C>TCA410485782ITGB2c.1250G>A (p.Arg417Lys)
c.1178G>A (p.Arg393Lys)
c.1007G>A (p.Arg336Lys)
n.578G>A
n.2747G>A
c.*1005G>A (n.*1005G>A)
c.971G>A (p.Arg324Lys)
21g.44893451T>ACA410485784ITGB2c.1249A>T (p.Arg417Trp)
c.1177A>T (p.Arg393Trp)
c.1006A>T (p.Arg336Trp)
n.577A>T
n.2746A>T
c.*1004A>T (n.*1004A>T)
c.970A>T (p.Arg324Trp)
21g.44893451T>CCA410485786ITGB2c.1249A>G (p.Arg417Gly)
c.1177A>G (p.Arg393Gly)
c.1006A>G (p.Arg336Gly)
n.577A>G
n.2746A>G
c.*1004A>G (n.*1004A>G)
c.970A>G (p.Arg324Gly)
ClinVar dbSNP
21g.44893451T>GCA512551532ITGB2c.1249A>C (p.Arg417=)
c.1177A>C (p.Arg393=)
c.1006A>C (p.Arg336=)
n.577A>C
n.2746A>C
c.*1004A>C (n.*1004A>C)
c.970A>C (p.Arg324=)
21g.44893451T=CA2391875888ITGB2c.1249A= (p.Arg417=)
c.1177A= (p.Arg393=)
c.1006A= (p.Arg336=)
n.577A=
n.2746A=
c.*1004A= (n.*1004A=)
c.970A= (p.Arg324=)
21g.44893452G>ACA10062908ITGB2c.1248C>T (p.His416=)
c.1176C>T (p.His392=)
c.1005C>T (p.His335=)
n.576C>T
n.2745C>T
c.*1003C>T (n.*1003C>T)
c.969C>T (p.His323=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44893452G>CCA10062907ITGB2c.1248C>G (p.His416Gln)
c.1176C>G (p.His392Gln)
c.1005C>G (p.His335Gln)
n.576C>G
n.2745C>G
c.*1003C>G (n.*1003C>G)
c.969C>G (p.His323Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44893452G=CA2391875889ITGB2c.1248C= (p.His416=)
c.1176C= (p.His392=)
c.1005C= (p.His335=)
n.576C=
n.2745C=
c.*1003C= (n.*1003C=)
c.969C= (p.His323=)
21g.44893452G>TCA410485788ITGB2c.1248C>A (p.His416Gln)
c.1176C>A (p.His392Gln)
c.1005C>A (p.His335Gln)
n.576C>A
n.2745C>A
c.*1003C>A (n.*1003C>A)
c.969C>A (p.His323Gln)
21g.44893453T>ACA410485790ITGB2c.1247A>T (p.His416Leu)
c.1175A>T (p.His392Leu)
c.1004A>T (p.His335Leu)
n.575A>T
n.2744A>T
c.*1002A>T (n.*1002A>T)
c.968A>T (p.His323Leu)
21g.44893453T>CCA410485793ITGB2c.1247A>G (p.His416Arg)
c.1175A>G (p.His392Arg)
c.1004A>G (p.His335Arg)
n.575A>G
n.2744A>G
c.*1002A>G (n.*1002A>G)
c.968A>G (p.His323Arg)
dbSNP
21g.44893453T>GCA410485792ITGB2c.1247A>C (p.His416Pro)
c.1175A>C (p.His392Pro)
c.1004A>C (p.His335Pro)
n.575A>C
n.2744A>C
c.*1002A>C (n.*1002A>C)
c.968A>C (p.His323Pro)
21g.44893453T=CA2391875890ITGB2c.1247A= (p.His416=)
c.1175A= (p.His392=)
c.1004A= (p.His335=)
n.575A=
n.2744A=
c.*1002A= (n.*1002A=)
c.968A= (p.His323=)
21g.44893454delCA2577624338ITGB2c.1246del (p.His416ThrfsTer22)
c.1174del (p.His392ThrfsTer22)
c.1003del (p.His335ThrfsTer22)
n.574del
n.2743del
c.*1001del (n.*1001del)
c.967del (p.His323ThrfsTer22)
21g.44893454G>ACA410485795ITGB2c.1246C>T (p.His416Tyr)
c.1174C>T (p.His392Tyr)
c.1003C>T (p.His335Tyr)
n.574C>T
n.2743C>T
c.*1001C>T (n.*1001C>T)
c.967C>T (p.His323Tyr)
21g.44893454G>CCA410485798ITGB2c.1246C>G (p.His416Asp)
c.1174C>G (p.His392Asp)
c.1003C>G (p.His335Asp)
n.574C>G
n.2743C>G
c.*1001C>G (n.*1001C>G)
c.967C>G (p.His323Asp)
21g.44893454G>TCA410485797ITGB2c.1246C>A (p.His416Asn)
c.1174C>A (p.His392Asn)
c.1003C>A (p.His335Asn)
n.574C>A
n.2743C>A
c.*1001C>A (n.*1001C>A)
c.967C>A (p.His323Asn)
21g.44893455C>ACA10062910ITGB2c.1245G>T (p.Thr415=)
c.1173G>T (p.Thr391=)
c.1002G>T (p.Thr334=)
n.573G>T
n.2742G>T
c.*1000G>T (n.*1000G>T)
c.966G>T (p.Thr322=)
dbSNP ExAC gnomAD v2 gnomAD v4
21g.44893455C=CA2391875891ITGB2c.1245G= (p.Thr415=)
c.1173G= (p.Thr391=)
c.1002G= (p.Thr334=)
n.573G=
n.2742G=
c.*1000G= (n.*1000G=)
c.966G= (p.Thr322=)
21g.44893455C>GCA512551533ITGB2c.1245G>C (p.Thr415=)
c.1173G>C (p.Thr391=)
c.1002G>C (p.Thr334=)
n.573G>C
n.2742G>C
c.*1000G>C (n.*1000G>C)
c.966G>C (p.Thr322=)
21g.44893455C>TCA10062909ITGB2c.1245G>A (p.Thr415=)
c.1173G>A (p.Thr391=)
c.1002G>A (p.Thr334=)
n.573G>A
n.2742G>A
c.*1000G>A (n.*1000G>A)
c.966G>A (p.Thr322=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.44893456G>ACA10062911ITGB2c.1244C>T (p.Thr415Met)
c.1172C>T (p.Thr391Met)
c.1001C>T (p.Thr334Met)
n.572C>T
n.2741C>T
c.*999C>T (n.*999C>T)
c.965C>T (p.Thr322Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44893456G>CCA410485802ITGB2c.1244C>G (p.Thr415Arg)
c.1172C>G (p.Thr391Arg)
c.1001C>G (p.Thr334Arg)
n.572C>G
n.2741C>G
c.*999C>G (n.*999C>G)
c.965C>G (p.Thr322Arg)
21g.44893456G=CA2391875892ITGB2c.1244C= (p.Thr415=)
c.1172C= (p.Thr391=)
c.1001C= (p.Thr334=)
n.572C=
n.2741C=
c.*999C= (n.*999C=)
c.965C= (p.Thr322=)
21g.44893456G>TCA410485803ITGB2c.1244C>A (p.Thr415Lys)
c.1172C>A (p.Thr391Lys)
c.1001C>A (p.Thr334Lys)
n.572C>A
n.2741C>A
c.*999C>A (n.*999C>A)
c.965C>A (p.Thr322Lys)
gnomAD v4
21g.44893457T>ACA410485805ITGB2c.1243A>T (p.Thr415Ser)
c.1171A>T (p.Thr391Ser)
c.1000A>T (p.Thr334Ser)
n.571A>T
n.2740A>T
c.*998A>T (n.*998A>T)
c.964A>T (p.Thr322Ser)
gnomAD v4
21g.44893457T>CCA410485806ITGB2c.1243A>G (p.Thr415Ala)
c.1171A>G (p.Thr391Ala)
c.1000A>G (p.Thr334Ala)
n.571A>G
n.2740A>G
c.*998A>G (n.*998A>G)
c.964A>G (p.Thr322Ala)
gnomAD v4
21g.44893457T>GCA410485808ITGB2c.1243A>C (p.Thr415Pro)
c.1171A>C (p.Thr391Pro)
c.1000A>C (p.Thr334Pro)
n.571A>C
n.2740A>C
c.*998A>C (n.*998A>C)
c.964A>C (p.Thr322Pro)
21g.44893458C>ACA512551534ITGB2c.1242G>T (p.Val414=)
c.1170G>T (p.Val390=)
c.999G>T (p.Val333=)
n.570G>T
n.2739G>T
c.*997G>T (n.*997G>T)
c.963G>T (p.Val321=)
21g.44893458C>GCA512551535ITGB2c.1242G>C (p.Val414=)
c.1170G>C (p.Val390=)
c.999G>C (p.Val333=)
n.570G>C
n.2739G>C
c.*997G>C (n.*997G>C)
c.963G>C (p.Val321=)
21g.44893458C>TCA512551536ITGB2c.1242G>A (p.Val414=)
c.1170G>A (p.Val390=)
c.999G>A (p.Val333=)
n.570G>A
n.2739G>A
c.*997G>A (n.*997G>A)
c.963G>A (p.Val321=)
21g.44893459A>CCA410485809ITGB2c.1241T>G (p.Val414Gly)
c.1169T>G (p.Val390Gly)
c.998T>G (p.Val333Gly)
n.569T>G
n.2738T>G
c.*996T>G (n.*996T>G)
c.962T>G (p.Val321Gly)
21g.44893459A>GCA410485810ITGB2c.1241T>C (p.Val414Ala)
c.1169T>C (p.Val390Ala)
c.998T>C (p.Val333Ala)
n.569T>C
n.2738T>C
c.*996T>C (n.*996T>C)
c.962T>C (p.Val321Ala)
21g.44893459A>TCA410485812ITGB2c.1241T>A (p.Val414Glu)
c.1169T>A (p.Val390Glu)
c.998T>A (p.Val333Glu)
n.569T>A
n.2738T>A
c.*996T>A (n.*996T>A)
c.962T>A (p.Val321Glu)
21g.44893460C>ACA410485814ITGB2c.1240G>T (p.Val414Leu)
c.1168G>T (p.Val390Leu)
c.997G>T (p.Val333Leu)
n.568G>T
n.2737G>T
c.*995G>T (n.*995G>T)
c.961G>T (p.Val321Leu)
21g.44893460C>GCA410485815ITGB2c.1240G>C (p.Val414Leu)
c.1168G>C (p.Val390Leu)
c.997G>C (p.Val333Leu)
n.568G>C
n.2737G>C
c.*995G>C (n.*995G>C)
c.961G>C (p.Val321Leu)
21g.44893460C>TCA410485816ITGB2c.1240G>A (p.Val414Met)
c.1168G>A (p.Val390Met)
c.997G>A (p.Val333Met)
n.568G>A
n.2737G>A
c.*995G>A (n.*995G>A)
c.961G>A (p.Val321Met)
gnomAD v4
21g.44893461T>ACA512551540ITGB2c.1239A>T (p.Gly413=)
c.1167A>T (p.Gly389=)
c.996A>T (p.Gly332=)
n.567A>T
n.2736A>T
c.*994A>T (n.*994A>T)
c.960A>T (p.Gly320=)
21g.44893461T>CCA512551542ITGB2c.1239A>G (p.Gly413=)
c.1167A>G (p.Gly389=)
c.996A>G (p.Gly332=)
n.567A>G
n.2736A>G
c.*994A>G (n.*994A>G)
c.960A>G (p.Gly320=)
dbSNP gnomAD v3 gnomAD v4
21g.44893461T>GCA512551541ITGB2c.1239A>C (p.Gly413=)
c.1167A>C (p.Gly389=)
c.996A>C (p.Gly332=)
n.567A>C
n.2736A>C
c.*994A>C (n.*994A>C)
c.960A>C (p.Gly320=)
21g.44893461T=CA2391875893ITGB2c.1239A= (p.Gly413=)
c.1167A= (p.Gly389=)
c.996A= (p.Gly332=)
n.567A=
n.2736A=
c.*994A= (n.*994A=)
c.960A= (p.Gly320=)
21g.44893462C>ACA410485821ITGB2c.1238G>T (p.Gly413Val)
c.1166G>T (p.Gly389Val)
c.995G>T (p.Gly332Val)
n.566G>T
n.2735G>T
c.*993G>T (n.*993G>T)
c.959G>T (p.Gly320Val)
21g.44893462C=CA2391875894ITGB2c.1238G= (p.Gly413=)
c.1166G= (p.Gly389=)
c.995G= (p.Gly332=)
n.566G=
n.2735G=
c.*993G= (n.*993G=)
c.959G= (p.Gly320=)
21g.44893462C>GCA410485818ITGB2c.1238G>C (p.Gly413Ala)
c.1166G>C (p.Gly389Ala)
c.995G>C (p.Gly332Ala)
n.566G>C
n.2735G>C
c.*993G>C (n.*993G>C)
c.959G>C (p.Gly320Ala)
21g.44893462C>TCA410485819ITGB2c.1238G>A (p.Gly413Glu)
c.1166G>A (p.Gly389Glu)
c.995G>A (p.Gly332Glu)
n.566G>A
n.2735G>A
c.*993G>A (n.*993G>A)
c.959G>A (p.Gly320Glu)
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.44893463C>ACA410485822ITGB2c.1237G>T (p.Gly413Ter)
c.1165G>T (p.Gly389Ter)
c.994G>T (p.Gly332Ter)
n.565G>T
n.2734G>T
c.*992G>T (n.*992G>T)
c.958G>T (p.Gly320Ter)
21g.44893463C=CA2391875895ITGB2c.1237G= (p.Gly413=)
c.1165G= (p.Gly389=)
c.994G= (p.Gly332=)
n.565G=
n.2734G=
c.*992G= (n.*992G=)
c.958G= (p.Gly320=)
21g.44893463C>GCA410485824ITGB2c.1237G>C (p.Gly413Arg)
c.1165G>C (p.Gly389Arg)
c.994G>C (p.Gly332Arg)
n.565G>C
n.2734G>C
c.*992G>C (n.*992G>C)
c.958G>C (p.Gly320Arg)
21g.44893463C>TCA10062912ITGB2c.1237G>A (p.Gly413Arg)
c.1165G>A (p.Gly389Arg)
c.994G>A (p.Gly332Arg)
n.565G>A
n.2734G>A
c.*992G>A (n.*992G>A)
c.958G>A (p.Gly320Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.44893464A>CCA410485825ITGB2c.1236T>G (p.Asn412Lys)
c.1164T>G (p.Asn388Lys)
c.993T>G (p.Asn331Lys)
n.564T>G
n.2733T>G
c.*991T>G (n.*991T>G)
c.957T>G (p.Asn319Lys)
21g.44893464A>GCA512551543ITGB2c.1236T>C (p.Asn412=)
c.1164T>C (p.Asn388=)
c.993T>C (p.Asn331=)
n.564T>C
n.2733T>C
c.*991T>C (n.*991T>C)
c.957T>C (p.Asn319=)
gnomAD v4
21g.44893464A>TCA410485827ITGB2c.1236T>A (p.Asn412Lys)
c.1164T>A (p.Asn388Lys)
c.993T>A (p.Asn331Lys)
n.564T>A
n.2733T>A
c.*991T>A (n.*991T>A)
c.957T>A (p.Asn319Lys)
gnomAD v4
21g.44893465T>ACA410485829ITGB2c.1235A>T (p.Asn412Ile)
c.1163A>T (p.Asn388Ile)
c.992A>T (p.Asn331Ile)
n.563A>T
n.2732A>T
c.*990A>T (n.*990A>T)
c.956A>T (p.Asn319Ile)
21g.44893465T>CCA410485831ITGB2c.1235A>G (p.Asn412Ser)
c.1163A>G (p.Asn388Ser)
c.992A>G (p.Asn331Ser)
n.563A>G
n.2732A>G
c.*990A>G (n.*990A>G)
c.956A>G (p.Asn319Ser)
gnomAD v4
21g.44893465T>GCA410485832ITGB2c.1235A>C (p.Asn412Thr)
c.1163A>C (p.Asn388Thr)
c.992A>C (p.Asn331Thr)
n.563A>C
n.2732A>C
c.*990A>C (n.*990A>C)
c.956A>C (p.Asn319Thr)
21g.44893466T>ACA410485834ITGB2c.1234A>T (p.Asn412Tyr)
c.1162A>T (p.Asn388Tyr)
c.991A>T (p.Asn331Tyr)
n.562A>T
n.2731A>T
c.*989A>T (n.*989A>T)
c.955A>T (p.Asn319Tyr)
21g.44893466T>CCA410485836ITGB2c.1234A>G (p.Asn412Asp)
c.1162A>G (p.Asn388Asp)
c.991A>G (p.Asn331Asp)
n.562A>G
n.2731A>G
c.*989A>G (n.*989A>G)
c.955A>G (p.Asn319Asp)
21g.44893466T>GCA410485837ITGB2c.1234A>C (p.Asn412His)
c.1162A>C (p.Asn388His)
c.991A>C (p.Asn331His)
n.562A>C
n.2731A>C
c.*989A>C (n.*989A>C)
c.955A>C (p.Asn319His)
21g.44893467G>ACA512551545ITGB2c.1233C>T (p.Ser411=)
c.1161C>T (p.Ser387=)
c.990C>T (p.Ser330=)
n.561C>T
n.2730C>T
c.*988C>T (n.*988C>T)
c.954C>T (p.Ser318=)
COSMIC
21g.44893467G>CCA410485840ITGB2c.1233C>G (p.Ser411Arg)
c.1161C>G (p.Ser387Arg)
c.990C>G (p.Ser330Arg)
n.561C>G
n.2730C>G
c.*988C>G (n.*988C>G)
c.954C>G (p.Ser318Arg)
21g.44893467G>TCA410485839ITGB2c.1233C>A (p.Ser411Arg)
c.1161C>A (p.Ser387Arg)
c.990C>A (p.Ser330Arg)
n.561C>A
n.2730C>A
c.*988C>A (n.*988C>A)
c.954C>A (p.Ser318Arg)
21g.44893468C>ACA410485842ITGB2c.1232G>T (p.Ser411Ile)
c.1160G>T (p.Ser387Ile)
c.989G>T (p.Ser330Ile)
n.560G>T
n.2729G>T
c.*987G>T (n.*987G>T)
c.953G>T (p.Ser318Ile)
dbSNP gnomAD v2 gnomAD v4
21g.44893468C=CA2391875896ITGB2c.1232G= (p.Ser411=)
c.1160G= (p.Ser387=)
c.989G= (p.Ser330=)
n.560G=
n.2729G=
c.*987G= (n.*987G=)
c.953G= (p.Ser318=)
21g.44893468C>GCA410485844ITGB2c.1232G>C (p.Ser411Thr)
c.1160G>C (p.Ser387Thr)
c.989G>C (p.Ser330Thr)
n.560G>C
n.2729G>C
c.*987G>C (n.*987G>C)
c.953G>C (p.Ser318Thr)
21g.44893468C>TCA410485846ITGB2c.1232G>A (p.Ser411Asn)
c.1160G>A (p.Ser387Asn)
c.989G>A (p.Ser330Asn)
n.560G>A
n.2729G>A
c.*987G>A (n.*987G>A)
c.953G>A (p.Ser318Asn)
gnomAD v4
21g.44893469T>ACA410485848ITGB2c.1231A>T (p.Ser411Cys)
c.1159A>T (p.Ser387Cys)
c.988A>T (p.Ser330Cys)
n.559A>T
n.2728A>T
c.*986A>T (n.*986A>T)
c.952A>T (p.Ser318Cys)
21g.44893469T>CCA410485849ITGB2c.1231A>G (p.Ser411Gly)
c.1159A>G (p.Ser387Gly)
c.988A>G (p.Ser330Gly)
n.559A>G
n.2728A>G
c.*986A>G (n.*986A>G)
c.952A>G (p.Ser318Gly)
21g.44893469T>GCA410485851ITGB2c.1231A>C (p.Ser411Arg)
c.1159A>C (p.Ser387Arg)
c.988A>C (p.Ser330Arg)
n.559A>C
n.2728A>C
c.*986A>C (n.*986A>C)
c.952A>C (p.Ser318Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
21g.44893469T=CA2391875897ITGB2c.1231A= (p.Ser411=)
c.1159A= (p.Ser387=)
c.988A= (p.Ser330=)
n.559A=
n.2728A=
c.*986A= (n.*986A=)
c.952A= (p.Ser318=)
21g.44893470G>ACA512551546ITGB2c.1230C>T (p.Cys410=)
c.1158C>T (p.Cys386=)
c.987C>T (p.Cys329=)
n.558C>T
n.2727C>T
c.*985C>T (n.*985C>T)
c.951C>T (p.Cys317=)
gnomAD v4
21g.44893470G>CCA410485854ITGB2c.1230C>G (p.Cys410Trp)
c.1158C>G (p.Cys386Trp)
c.987C>G (p.Cys329Trp)
n.558C>G
n.2727C>G
c.*985C>G (n.*985C>G)
c.951C>G (p.Cys317Trp)
21g.44893470G>TCA410485853ITGB2c.1230C>A (p.Cys410Ter)
c.1158C>A (p.Cys386Ter)
c.987C>A (p.Cys329Ter)
n.558C>A
n.2727C>A
c.*985C>A (n.*985C>A)
c.951C>A (p.Cys317Ter)
21g.44893471C>ACA410485856ITGB2c.1229G>T (p.Cys410Phe)
c.1157G>T (p.Cys386Phe)
c.986G>T (p.Cys329Phe)
n.557G>T
n.2726G>T
c.*984G>T (n.*984G>T)
c.950G>T (p.Cys317Phe)
21g.44893471C>GCA410485858ITGB2c.1229G>C (p.Cys410Ser)
c.1157G>C (p.Cys386Ser)
c.986G>C (p.Cys329Ser)
n.557G>C
n.2726G>C
c.*984G>C (n.*984G>C)
c.950G>C (p.Cys317Ser)
21g.44893471C>TCA410485860ITGB2c.1229G>A (p.Cys410Tyr)
c.1157G>A (p.Cys386Tyr)
c.986G>A (p.Cys329Tyr)
n.557G>A
n.2726G>A
c.*984G>A (n.*984G>A)
c.950G>A (p.Cys317Tyr)
21g.44893472A>CCA410485861ITGB2c.1228T>G (p.Cys410Gly)
c.1156T>G (p.Cys386Gly)
c.985T>G (p.Cys329Gly)
n.556T>G
n.2725T>G
c.*983T>G (n.*983T>G)
c.949T>G (p.Cys317Gly)
21g.44893472A>GCA410485862ITGB2c.1228T>C (p.Cys410Arg)
c.1156T>C (p.Cys386Arg)
c.985T>C (p.Cys329Arg)
n.556T>C
n.2725T>C
c.*983T>C (n.*983T>C)
c.949T>C (p.Cys317Arg)
21g.44893472A>TCA410485864ITGB2c.1228T>A (p.Cys410Ser)
c.1156T>A (p.Cys386Ser)
c.985T>A (p.Cys329Ser)
n.556T>A
n.2725T>A
c.*983T>A (n.*983T>A)
c.949T>A (p.Cys317Ser)
21g.44893473G>ACA10062913ITGB2c.1227C>T (p.Phe409=)
c.1155C>T (p.Phe385=)
c.984C>T (p.Phe328=)
n.555C>T
n.2724C>T
c.*982C>T (n.*982C>T)
c.948C>T (p.Phe316=)
dbSNP ExAC gnomAD v2 gnomAD v4
21g.44893473G>CCA410485868ITGB2c.1227C>G (p.Phe409Leu)
c.1155C>G (p.Phe385Leu)
c.984C>G (p.Phe328Leu)
n.555C>G
n.2724C>G
c.*982C>G (n.*982C>G)
c.948C>G (p.Phe316Leu)
21g.44893473G=CA2391875898ITGB2c.1227C= (p.Phe409=)
c.1155C= (p.Phe385=)
c.984C= (p.Phe328=)
n.555C=
n.2724C=
c.*982C= (n.*982C=)
c.948C= (p.Phe316=)
21g.44893473G>TCA410485867ITGB2c.1227C>A (p.Phe409Leu)
c.1155C>A (p.Phe385Leu)
c.984C>A (p.Phe328Leu)
n.555C>A
n.2724C>A
c.*982C>A (n.*982C>A)
c.948C>A (p.Phe316Leu)
21g.44893474A>CCA410485870ITGB2c.1226T>G (p.Phe409Cys)
c.1154T>G (p.Phe385Cys)
c.983T>G (p.Phe328Cys)
n.554T>G
n.2723T>G
c.*981T>G (n.*981T>G)
c.947T>G (p.Phe316Cys)
21g.44893474A>GCA410485872ITGB2c.1226T>C (p.Phe409Ser)
c.1154T>C (p.Phe385Ser)
c.983T>C (p.Phe328Ser)
n.554T>C
n.2723T>C
c.*981T>C (n.*981T>C)
c.947T>C (p.Phe316Ser)
21g.44893474A>TCA410485874ITGB2c.1226T>A (p.Phe409Tyr)
c.1154T>A (p.Phe385Tyr)
c.983T>A (p.Phe328Tyr)
n.554T>A
n.2723T>A
c.*981T>A (n.*981T>A)
c.947T>A (p.Phe316Tyr)
21g.44893475A>CCA410485876ITGB2c.1225T>G (p.Phe409Val)
c.1153T>G (p.Phe385Val)
c.982T>G (p.Phe328Val)
n.553T>G
n.2722T>G
c.*980T>G (n.*980T>G)
c.946T>G (p.Phe316Val)
21g.44893475A>GCA410485877ITGB2c.1225T>C (p.Phe409Leu)
c.1153T>C (p.Phe385Leu)
c.982T>C (p.Phe328Leu)
n.553T>C
n.2722T>C
c.*980T>C (n.*980T>C)
c.946T>C (p.Phe316Leu)
21g.44893475A>TCA410485879ITGB2c.1225T>A (p.Phe409Ile)
c.1153T>A (p.Phe385Ile)
c.982T>A (p.Phe328Ile)
n.553T>A
n.2722T>A
c.*980T>A (n.*980T>A)
c.946T>A (p.Phe316Ile)
21g.44893476G>ACA512551548ITGB2c.1224C>T (p.Ser408=)
c.1152C>T (p.Ser384=)
c.981C>T (p.Ser327=)
n.552C>T
n.2721C>T
c.*979C>T (n.*979C>T)
c.945C>T (p.Ser315=)
COSMIC
21g.44893476G>CCA512551550ITGB2c.1224C>G (p.Ser408=)
c.1152C>G (p.Ser384=)
c.981C>G (p.Ser327=)
n.552C>G
n.2721C>G
c.*979C>G (n.*979C>G)
c.945C>G (p.Ser315=)
21g.44893476G>TCA512551549ITGB2c.1224C>A (p.Ser408=)
c.1152C>A (p.Ser384=)
c.981C>A (p.Ser327=)
n.552C>A
n.2721C>A
c.*979C>A (n.*979C>A)
c.945C>A (p.Ser315=)
21g.44893477G>ACA410485880ITGB2c.1223C>T (p.Ser408Phe)
c.1151C>T (p.Ser384Phe)
c.980C>T (p.Ser327Phe)
n.551C>T
n.2720C>T
c.*978C>T (n.*978C>T)
c.944C>T (p.Ser315Phe)
21g.44893477G>CCA410485881ITGB2c.1223C>G (p.Ser408Cys)
c.1151C>G (p.Ser384Cys)
c.980C>G (p.Ser327Cys)
n.551C>G
n.2720C>G
c.*978C>G (n.*978C>G)
c.944C>G (p.Ser315Cys)
21g.44893477G>TCA410485882ITGB2c.1223C>A (p.Ser408Tyr)
c.1151C>A (p.Ser384Tyr)
c.980C>A (p.Ser327Tyr)
n.551C>A
n.2720C>A
c.*978C>A (n.*978C>A)
c.944C>A (p.Ser315Tyr)
gnomAD v4
21g.44893478A>CCA410485884ITGB2c.1222T>G (p.Ser408Ala)
c.1150T>G (p.Ser384Ala)
c.979T>G (p.Ser327Ala)
n.550T>G
n.2719T>G
c.*977T>G (n.*977T>G)
c.943T>G (p.Ser315Ala)
21g.44893478A>GCA410485886ITGB2c.1222T>C (p.Ser408Pro)
c.1150T>C (p.Ser384Pro)
c.979T>C (p.Ser327Pro)
n.550T>C
n.2719T>C
c.*977T>C (n.*977T>C)
c.943T>C (p.Ser315Pro)
21g.44893478A>TCA410485887ITGB2c.1222T>A (p.Ser408Thr)
c.1150T>A (p.Ser384Thr)
c.979T>A (p.Ser327Thr)
n.550T>A
n.2719T>A
c.*977T>A (n.*977T>A)
c.943T>A (p.Ser315Thr)
21g.44893479G>ACA512551552ITGB2c.1221C>T (p.Asp407=)
c.1149C>T (p.Asp383=)
c.978C>T (p.Asp326=)
n.549C>T
n.2718C>T
c.*976C>T (n.*976C>T)
c.942C>T (p.Asp314=)
21g.44893479G>CCA410485891ITGB2c.1221C>G (p.Asp407Glu)
c.1149C>G (p.Asp383Glu)
c.978C>G (p.Asp326Glu)
n.549C>G
n.2718C>G
c.*976C>G (n.*976C>G)
c.942C>G (p.Asp314Glu)
21g.44893479G>TCA410485889ITGB2c.1221C>A (p.Asp407Glu)
c.1149C>A (p.Asp383Glu)
c.978C>A (p.Asp326Glu)
n.549C>A
n.2718C>A
c.*976C>A (n.*976C>A)
c.942C>A (p.Asp314Glu)
21g.44893480T>ACA410485892ITGB2c.1220A>T (p.Asp407Val)
c.1148A>T (p.Asp383Val)
c.977A>T (p.Asp326Val)
n.548A>T
n.2717A>T
c.*975A>T (n.*975A>T)
c.941A>T (p.Asp314Val)
gnomAD v4
21g.44893480T>CCA410485894ITGB2c.1220A>G (p.Asp407Gly)
c.1148A>G (p.Asp383Gly)
c.977A>G (p.Asp326Gly)
n.548A>G
n.2717A>G
c.*975A>G (n.*975A>G)
c.941A>G (p.Asp314Gly)
21g.44893480T>GCA410485893ITGB2c.1220A>C (p.Asp407Ala)
c.1148A>C (p.Asp383Ala)
c.977A>C (p.Asp326Ala)
n.548A>C
n.2717A>C
c.*975A>C (n.*975A>C)
c.941A>C (p.Asp314Ala)
21g.44893481C>ACA10062914ITGB2c.1219G>T (p.Asp407Tyr)
c.1147G>T (p.Asp383Tyr)
c.976G>T (p.Asp326Tyr)
n.547G>T
n.2716G>T
c.*974G>T (n.*974G>T)
c.940G>T (p.Asp314Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
21g.44893481C=CA2391875899ITGB2c.1219G= (p.Asp407=)
c.1147G= (p.Asp383=)
c.976G= (p.Asp326=)
n.547G=
n.2716G=
c.*974G= (n.*974G=)
c.940G= (p.Asp314=)
21g.44893481C>GCA410485897ITGB2c.1219G>C (p.Asp407His)
c.1147G>C (p.Asp383His)
c.976G>C (p.Asp326His)
n.547G>C
n.2716G>C
c.*974G>C (n.*974G>C)
c.940G>C (p.Asp314His)
21g.44893481C>TCA10062915ITGB2c.1219G>A (p.Asp407Asn)
c.1147G>A (p.Asp383Asn)
c.976G>A (p.Asp326Asn)
n.547G>A
n.2716G>A
c.*974G>A (n.*974G>A)
c.940G>A (p.Asp314Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
21g.44893482G>ACA10062916ITGB2c.1218C>T (p.Tyr406=)
c.1146C>T (p.Tyr382=)
c.975C>T (p.Tyr325=)
n.546C>T
n.2715C>T
c.*973C>T (n.*973C>T)
c.939C>T (p.Tyr313=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.44893482G>CCA410485899ITGB2c.1218C>G (p.Tyr406Ter)
c.1146C>G (p.Tyr382Ter)
c.975C>G (p.Tyr325Ter)
n.546C>G
n.2715C>G
c.*973C>G (n.*973C>G)
c.939C>G (p.Tyr313Ter)
21g.44893482G=CA2391875900ITGB2c.1218C= (p.Tyr406=)
c.1146C= (p.Tyr382=)
c.975C= (p.Tyr325=)
n.546C=
n.2715C=
c.*973C= (n.*973C=)
c.939C= (p.Tyr313=)
21g.44893482G>TCA321897588ITGB2c.1218C>A (p.Tyr406Ter)
c.1146C>A (p.Tyr382Ter)
c.975C>A (p.Tyr325Ter)
n.546C>A
n.2715C>A
c.*973C>A (n.*973C>A)
c.939C>A (p.Tyr313Ter)
dbSNP gnomAD v4
21g.44893483T>ACA410485902ITGB2c.1217A>T (p.Tyr406Phe)
c.1145A>T (p.Tyr382Phe)
c.974A>T (p.Tyr325Phe)
n.545A>T
n.2714A>T
c.*972A>T (n.*972A>T)
c.938A>T (p.Tyr313Phe)
21g.44893483T>CCA410485903ITGB2c.1217A>G (p.Tyr406Cys)
c.1145A>G (p.Tyr382Cys)
c.974A>G (p.Tyr325Cys)
n.545A>G
n.2714A>G
c.*972A>G (n.*972A>G)
c.938A>G (p.Tyr313Cys)
dbSNP
21g.44893483T>GCA410485904ITGB2c.1217A>C (p.Tyr406Ser)
c.1145A>C (p.Tyr382Ser)
c.974A>C (p.Tyr325Ser)
n.545A>C
n.2714A>C
c.*972A>C (n.*972A>C)
c.938A>C (p.Tyr313Ser)
21g.44893483T=CA2391875901ITGB2c.1217A= (p.Tyr406=)
c.1145A= (p.Tyr382=)
c.974A= (p.Tyr325=)
n.545A=
n.2714A=
c.*972A= (n.*972A=)
c.938A= (p.Tyr313=)
21g.44893484A=CA2391875903ITGB2c.1216T= (p.Tyr406=)
c.1144T= (p.Tyr382=)
c.973T= (p.Tyr325=)
n.544T=
n.2713T=
c.*971T= (n.*971T=)
c.937T= (p.Tyr313=)
21g.44893484A>CCA410485906ITGB2c.1216T>G (p.Tyr406Asp)
c.1144T>G (p.Tyr382Asp)
c.973T>G (p.Tyr325Asp)
n.544T>G
n.2713T>G
c.*971T>G (n.*971T>G)
c.937T>G (p.Tyr313Asp)
21g.44893484A>GCA10062917ITGB2c.1216T>C (p.Tyr406His)
c.1144T>C (p.Tyr382His)
c.973T>C (p.Tyr325His)
n.544T>C
n.2713T>C
c.*971T>C (n.*971T>C)
c.937T>C (p.Tyr313His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44893484A>TCA410485908ITGB2c.1216T>A (p.Tyr406Asn)
c.1144T>A (p.Tyr382Asn)
c.973T>A (p.Tyr325Asn)
n.544T>A
n.2713T>A
c.*971T>A (n.*971T>A)
c.937T>A (p.Tyr313Asn)
21g.44893484_44893485delinsAGCA2391875902ITGB2c.1215_1216delinsCT (p.Thr405=)
c.1143_1144delinsCT (p.Thr381=)
c.972_973delinsCT (p.Thr324=)
n.543_544delinsCT
n.2712_2713delinsCT
c.*970_*971delinsCT (n.*970_*971delinsCT)
c.936_937delinsCT (p.Thr312=)
21g.44893485G>ACA512551553ITGB2c.1215C>T (p.Thr405=)
c.1143C>T (p.Thr381=)
c.972C>T (p.Thr324=)
n.543C>T
n.2712C>T
c.*970C>T (n.*970C>T)
c.936C>T (p.Thr312=)
dbSNP
21g.44893485G>CCA512551554ITGB2c.1215C>G (p.Thr405=)
c.1143C>G (p.Thr381=)
c.972C>G (p.Thr324=)
n.543C>G
n.2712C>G
c.*970C>G (n.*970C>G)
c.936C>G (p.Thr312=)
21g.44893485G=CA2391875904ITGB2c.1215C= (p.Thr405=)
c.1143C= (p.Thr381=)
c.972C= (p.Thr324=)
n.543C=
n.2712C=
c.*970C= (n.*970C=)
c.936C= (p.Thr312=)
21g.44893485G>TCA512551555ITGB2c.1215C>A (p.Thr405=)
c.1143C>A (p.Thr381=)
c.972C>A (p.Thr324=)
n.543C>A
n.2712C>A
c.*970C>A (n.*970C>A)
c.936C>A (p.Thr312=)
COSMIC
21g.44893486delCA249759ITGB2c.1215del (p.Tyr406ThrfsTer9)
c.1143del (p.Tyr382ThrfsTer9)
c.972del (p.Tyr325ThrfsTer9)
n.543del
n.2712del
c.*970del (n.*970del)
c.936del (p.Tyr313ThrfsTer9)
ClinVar dbSNP gnomAD v4
21g.44893486G>ACA410485910ITGB2c.1214C>T (p.Thr405Ile)
c.1142C>T (p.Thr381Ile)
c.971C>T (p.Thr324Ile)
n.542C>T
n.2711C>T
c.*969C>T (n.*969C>T)
c.935C>T (p.Thr312Ile)
dbSNP gnomAD v3 gnomAD v4
21g.44893486G>CCA410485912ITGB2c.1214C>G (p.Thr405Ser)
c.1142C>G (p.Thr381Ser)
c.971C>G (p.Thr324Ser)
n.542C>G
n.2711C>G
c.*969C>G (n.*969C>G)
c.935C>G (p.Thr312Ser)
21g.44893486G=CA2391875905ITGB2c.1214C= (p.Thr405=)
c.1142C= (p.Thr381=)
c.971C= (p.Thr324=)
n.542C=
n.2711C=
c.*969C= (n.*969C=)
c.935C= (p.Thr312=)
21g.44893486G>TCA410485914ITGB2c.1214C>A (p.Thr405Asn)
c.1142C>A (p.Thr381Asn)
c.971C>A (p.Thr324Asn)
n.542C>A
n.2711C>A
c.*969C>A (n.*969C>A)
c.935C>A (p.Thr312Asn)
21g.44893487T>ACA410485915ITGB2c.1213A>T (p.Thr405Ser)
c.1141A>T (p.Thr381Ser)
c.970A>T (p.Thr324Ser)
n.541A>T
n.2710A>T
c.*968A>T (n.*968A>T)
c.934A>T (p.Thr312Ser)
21g.44893487T>CCA410485917ITGB2c.1213A>G (p.Thr405Ala)
c.1141A>G (p.Thr381Ala)
c.970A>G (p.Thr324Ala)
n.541A>G
n.2710A>G
c.*968A>G (n.*968A>G)
c.934A>G (p.Thr312Ala)
gnomAD v4
21g.44893487T>GCA410485919ITGB2c.1213A>C (p.Thr405Pro)
c.1141A>C (p.Thr381Pro)
c.970A>C (p.Thr324Pro)
n.541A>C
n.2710A>C
c.*968A>C (n.*968A>C)
c.934A>C (p.Thr312Pro)
21g.44893488G>ACA512551557ITGB2c.1212C>T (p.Val404=)
c.1140C>T (p.Val380=)
c.969C>T (p.Val323=)
n.540C>T
n.2709C>T
c.*967C>T (n.*967C>T)
c.933C>T (p.Val311=)
21g.44893488G>CCA512551558ITGB2c.1212C>G (p.Val404=)
c.1140C>G (p.Val380=)
c.969C>G (p.Val323=)
n.540C>G
n.2709C>G
c.*967C>G (n.*967C>G)
c.933C>G (p.Val311=)
21g.44893488G>TCA512551556ITGB2c.1212C>A (p.Val404=)
c.1140C>A (p.Val380=)
c.969C>A (p.Val323=)
n.540C>A
n.2709C>A
c.*967C>A (n.*967C>A)
c.933C>A (p.Val311=)
21g.44893489A>CCA410485921ITGB2c.1211T>G (p.Val404Gly)
c.1139T>G (p.Val380Gly)
c.968T>G (p.Val323Gly)
n.539T>G
n.2708T>G
c.*966T>G (n.*966T>G)
c.932T>G (p.Val311Gly)
21g.44893489A>GCA410485923ITGB2c.1211T>C (p.Val404Ala)
c.1139T>C (p.Val380Ala)
c.968T>C (p.Val323Ala)
n.539T>C
n.2708T>C
c.*966T>C (n.*966T>C)
c.932T>C (p.Val311Ala)
21g.44893489A>TCA410485925ITGB2c.1211T>A (p.Val404Asp)
c.1139T>A (p.Val380Asp)
c.968T>A (p.Val323Asp)
n.539T>A
n.2708T>A
c.*966T>A (n.*966T>A)
c.932T>A (p.Val311Asp)
21g.44893490C>ACA410485926ITGB2c.1210G>T (p.Val404Phe)
c.1138G>T (p.Val380Phe)
c.967G>T (p.Val323Phe)
n.538G>T
n.2707G>T
c.*965G>T (n.*965G>T)
c.931G>T (p.Val311Phe)
21g.44893490C=CA2391875906ITGB2c.1210G= (p.Val404=)
c.1138G= (p.Val380=)
c.967G= (p.Val323=)
n.538G=
n.2707G=
c.*965G= (n.*965G=)
c.931G= (p.Val311=)
21g.44893490C>GCA410485928ITGB2c.1210G>C (p.Val404Leu)
c.1138G>C (p.Val380Leu)
c.967G>C (p.Val323Leu)
n.538G>C
n.2707G>C
c.*965G>C (n.*965G>C)
c.931G>C (p.Val311Leu)
ClinVar dbSNP gnomAD v4
21g.44893490C>TCA410485929ITGB2c.1210G>A (p.Val404Ile)
c.1138G>A (p.Val380Ile)
c.967G>A (p.Val323Ile)
n.538G>A
n.2707G>A
c.*965G>A (n.*965G>A)
c.931G>A (p.Val311Ile)
gnomAD v4
21g.44893491T>ACA410485932ITGB2c.1209A>T (p.Lys403Asn)
c.1137A>T (p.Lys379Asn)
c.966A>T (p.Lys322Asn)
n.537A>T
n.2706A>T
c.*964A>T (n.*964A>T)
c.930A>T (p.Lys310Asn)
21g.44893491T>CCA512551559ITGB2c.1209A>G (p.Lys403=)
c.1137A>G (p.Lys379=)
c.966A>G (p.Lys322=)
n.537A>G
n.2706A>G
c.*964A>G (n.*964A>G)
c.930A>G (p.Lys310=)
21g.44893491T>GCA410485933ITGB2c.1209A>C (p.Lys403Asn)
c.1137A>C (p.Lys379Asn)
c.966A>C (p.Lys322Asn)
n.537A>C
n.2706A>C
c.*964A>C (n.*964A>C)
c.930A>C (p.Lys310Asn)
21g.44893493delCA2654867068ITGB2c.1209del (p.Val404SerfsTer11)
c.1137del (p.Val380SerfsTer11)
c.966del (p.Val323SerfsTer11)
n.537del
n.2706del
c.*964del (n.*964del)
c.930del (p.Val311SerfsTer11)
gnomAD v4
21g.44893492T>ACA410485939ITGB2c.1208A>T (p.Lys403Ile)
c.1136A>T (p.Lys379Ile)
c.965A>T (p.Lys322Ile)
n.536A>T
n.2705A>T
c.*963A>T (n.*963A>T)
c.929A>T (p.Lys310Ile)
21g.44893492T>CCA410485935ITGB2c.1208A>G (p.Lys403Arg)
c.1136A>G (p.Lys379Arg)
c.965A>G (p.Lys322Arg)
n.536A>G
n.2705A>G
c.*963A>G (n.*963A>G)
c.929A>G (p.Lys310Arg)
21g.44893492T>GCA410485937ITGB2c.1208A>C (p.Lys403Thr)
c.1136A>C (p.Lys379Thr)
c.965A>C (p.Lys322Thr)
n.536A>C
n.2705A>C
c.*963A>C (n.*963A>C)
c.929A>C (p.Lys310Thr)
21g.44893493T>ACA410485940ITGB2c.1207A>T (p.Lys403Ter)
c.1135A>T (p.Lys379Ter)
c.964A>T (p.Lys322Ter)
n.535A>T
n.2704A>T
c.*962A>T (n.*962A>T)
c.928A>T (p.Lys310Ter)
21g.44893493T>CCA410485941ITGB2c.1207A>G (p.Lys403Glu)
c.1135A>G (p.Lys379Glu)
c.964A>G (p.Lys322Glu)
n.535A>G
n.2704A>G
c.*962A>G (n.*962A>G)
c.928A>G (p.Lys310Glu)
21g.44893493T>GCA410485943ITGB2c.1207A>C (p.Lys403Gln)
c.1135A>C (p.Lys379Gln)
c.964A>C (p.Lys322Gln)
n.535A>C
n.2704A>C
c.*962A>C (n.*962A>C)
c.928A>C (p.Lys310Gln)
21g.44893494C>ACA512551560ITGB2c.1206G>T (p.Leu402=)
c.1134G>T (p.Leu378=)
c.963G>T (p.Leu321=)
n.534G>T
n.2703G>T
c.*961G>T (n.*961G>T)
c.927G>T (p.Leu309=)
21g.44893494C>GCA512551561ITGB2c.1206G>C (p.Leu402=)
c.1134G>C (p.Leu378=)
c.963G>C (p.Leu321=)
n.534G>C
n.2703G>C
c.*961G>C (n.*961G>C)
c.927G>C (p.Leu309=)
21g.44893494C>TCA512551562ITGB2c.1206G>A (p.Leu402=)
c.1134G>A (p.Leu378=)
c.963G>A (p.Leu321=)
n.534G>A
n.2703G>A
c.*961G>A (n.*961G>A)
c.927G>A (p.Leu309=)
21g.44893495A>CCA410485944ITGB2c.1205T>G (p.Leu402Arg)
c.1133T>G (p.Leu378Arg)
c.962T>G (p.Leu321Arg)
n.533T>G
n.2702T>G
c.*960T>G (n.*960T>G)
c.926T>G (p.Leu309Arg)
21g.44893495A>GCA410485946ITGB2c.1205T>C (p.Leu402Pro)
c.1133T>C (p.Leu378Pro)
c.962T>C (p.Leu321Pro)
n.533T>C
n.2702T>C
c.*960T>C (n.*960T>C)
c.926T>C (p.Leu309Pro)
21g.44893495A>TCA410485947ITGB2c.1205T>A (p.Leu402Gln)
c.1133T>A (p.Leu378Gln)
c.962T>A (p.Leu321Gln)
n.533T>A
n.2702T>A
c.*960T>A (n.*960T>A)
c.926T>A (p.Leu309Gln)
21g.44893496G>ACA512551563ITGB2c.1204C>T (p.Leu402=)
c.1132C>T (p.Leu378=)
c.961C>T (p.Leu321=)
n.532C>T
n.2701C>T
c.*959C>T (n.*959C>T)
c.925C>T (p.Leu309=)
21g.44893496G>CCA410485949ITGB2c.1204C>G (p.Leu402Val)
c.1132C>G (p.Leu378Val)
c.961C>G (p.Leu321Val)
n.532C>G
n.2701C>G
c.*959C>G (n.*959C>G)
c.925C>G (p.Leu309Val)
21g.44893496G>TCA410485951ITGB2c.1204C>A (p.Leu402Met)
c.1132C>A (p.Leu378Met)
c.961C>A (p.Leu321Met)
n.532C>A
n.2701C>A
c.*959C>A (n.*959C>A)
c.925C>A (p.Leu309Met)
21g.44893497G>ACA512551565ITGB2c.1203C>T (p.Thr401=)
c.1131C>T (p.Thr377=)
c.960C>T (p.Thr320=)
n.531C>T
n.2700C>T
c.*958C>T (n.*958C>T)
c.924C>T (p.Thr308=)
dbSNP gnomAD v3 gnomAD v4
21g.44893497G>CCA10062918ITGB2c.1203C>G (p.Thr401=)
c.1131C>G (p.Thr377=)
c.960C>G (p.Thr320=)
n.531C>G
n.2700C>G
c.*958C>G (n.*958C>G)
c.924C>G (p.Thr308=)
dbSNP ExAC gnomAD v2 gnomAD v4
21g.44893497G=CA2391875907ITGB2c.1203C= (p.Thr401=)
c.1131C= (p.Thr377=)
c.960C= (p.Thr320=)
n.531C=
n.2700C=
c.*958C= (n.*958C=)
c.924C= (p.Thr308=)
21g.44893497G>TCA512551564ITGB2c.1203C>A (p.Thr401=)
c.1131C>A (p.Thr377=)
c.960C>A (p.Thr320=)
n.531C>A
n.2700C>A
c.*958C>A (n.*958C>A)
c.924C>A (p.Thr308=)
21g.44893497_44893498delinsAACA2580098945ITGB2c.1202_1203delinsTT (p.Thr401Ile)
c.1130_1131delinsTT (p.Thr377Ile)
c.959_960delinsTT (p.Thr320Ile)
n.530_531delinsTT
n.2699_2700delinsTT
c.*957_*958delinsTT (n.*957_*958delinsTT)
c.923_924delinsTT (p.Thr308Ile)
ClinVar
21g.44893498G>ACA410485952ITGB2c.1202C>T (p.Thr401Ile)
c.1130C>T (p.Thr377Ile)
c.959C>T (p.Thr320Ile)
n.530C>T
n.2699C>T
c.*957C>T (n.*957C>T)
c.923C>T (p.Thr308Ile)
dbSNP gnomAD v3 gnomAD v4
21g.44893498G>CCA410485954ITGB2c.1202C>G (p.Thr401Ser)
c.1130C>G (p.Thr377Ser)
c.959C>G (p.Thr320Ser)
n.530C>G
n.2699C>G
c.*957C>G (n.*957C>G)
c.923C>G (p.Thr308Ser)
21g.44893498G=CA2391875908ITGB2c.1202C= (p.Thr401=)
c.1130C= (p.Thr377=)
c.959C= (p.Thr320=)
n.530C=
n.2699C=
c.*957C= (n.*957C=)
c.923C= (p.Thr308=)
21g.44893498G>TCA410485956ITGB2c.1202C>A (p.Thr401Asn)
c.1130C>A (p.Thr377Asn)
c.959C>A (p.Thr320Asn)
n.530C>A
n.2699C>A
c.*957C>A (n.*957C>A)
c.923C>A (p.Thr308Asn)
dbSNP gnomAD v3 gnomAD v4
21g.44893499T>ACA410485960ITGB2c.1201A>T (p.Thr401Ser)
c.1129A>T (p.Thr377Ser)
c.958A>T (p.Thr320Ser)
n.529A>T
n.2698A>T
c.*956A>T (n.*956A>T)
c.922A>T (p.Thr308Ser)
21g.44893499T>CCA410485959ITGB2c.1201A>G (p.Thr401Ala)
c.1129A>G (p.Thr377Ala)
c.958A>G (p.Thr320Ala)
n.529A>G
n.2698A>G
c.*956A>G (n.*956A>G)
c.922A>G (p.Thr308Ala)
21g.44893499T>GCA410485958ITGB2c.1201A>C (p.Thr401Pro)
c.1129A>C (p.Thr377Pro)
c.958A>C (p.Thr320Pro)
n.529A>C
n.2698A>C
c.*956A>C (n.*956A>C)
c.922A>C (p.Thr308Pro)
21g.44893500G>ACA512551567ITGB2c.1200C>T (p.Asp400=)
c.1128C>T (p.Asp376=)
c.957C>T (p.Asp319=)
n.528C>T
n.2697C>T
c.*955C>T (n.*955C>T)
c.921C>T (p.Asp307=)
21g.44893500G>CCA410485962ITGB2c.1200C>G (p.Asp400Glu)
c.1128C>G (p.Asp376Glu)
c.957C>G (p.Asp319Glu)
n.528C>G
n.2697C>G
c.*955C>G (n.*955C>G)
c.921C>G (p.Asp307Glu)
21g.44893500G>TCA410485963ITGB2c.1200C>A (p.Asp400Glu)
c.1128C>A (p.Asp376Glu)
c.957C>A (p.Asp319Glu)
n.528C>A
n.2697C>A
c.*955C>A (n.*955C>A)
c.921C>A (p.Asp307Glu)
21g.44893501T>ACA410485966ITGB2c.1199A>T (p.Asp400Val)
c.1127A>T (p.Asp376Val)
c.956A>T (p.Asp319Val)
n.527A>T
n.2696A>T
c.*954A>T (n.*954A>T)
c.920A>T (p.Asp307Val)
21g.44893501T>CCA410485967ITGB2c.1199A>G (p.Asp400Gly)
c.1127A>G (p.Asp376Gly)
c.956A>G (p.Asp319Gly)
n.527A>G
n.2696A>G
c.*954A>G (n.*954A>G)
c.920A>G (p.Asp307Gly)
21g.44893501T>GCA410485969ITGB2c.1199A>C (p.Asp400Ala)
c.1127A>C (p.Asp376Ala)
c.956A>C (p.Asp319Ala)
n.527A>C
n.2696A>C
c.*954A>C (n.*954A>C)
c.920A>C (p.Asp307Ala)
21g.44893502C>ACA410485971ITGB2c.1198G>T (p.Asp400Tyr)
c.1126G>T (p.Asp376Tyr)
c.955G>T (p.Asp319Tyr)
n.526G>T
n.2695G>T
c.*953G>T (n.*953G>T)
c.919G>T (p.Asp307Tyr)
gnomAD v4
21g.44893502C=CA2391875909ITGB2c.1198G= (p.Asp400=)
c.1126G= (p.Asp376=)
c.955G= (p.Asp319=)
n.526G=
n.2695G=
c.*953G= (n.*953G=)
c.919G= (p.Asp307=)
21g.44893502C>GCA410485972ITGB2c.1198G>C (p.Asp400His)
c.1126G>C (p.Asp376His)
c.955G>C (p.Asp319His)
n.526G>C
n.2695G>C
c.*953G>C (n.*953G>C)
c.919G>C (p.Asp307His)
gnomAD v4
21g.44893502C>TCA10062919ITGB2c.1198G>A (p.Asp400Asn)
c.1126G>A (p.Asp376Asn)
c.955G>A (p.Asp319Asn)
n.526G>A
n.2695G>A
c.*953G>A (n.*953G>A)
c.919G>A (p.Asp307Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44893503G>ACA10062921ITGB2c.1197C>T (p.Pro399=)
c.1125C>T (p.Pro375=)
c.954C>T (p.Pro318=)
n.525C>T
n.2694C>T
c.*952C>T (n.*952C>T)
c.918C>T (p.Pro306=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44893503G>CCA10062920ITGB2c.1197C>G (p.Pro399=)
c.1125C>G (p.Pro375=)
c.954C>G (p.Pro318=)
n.525C>G
n.2694C>G
c.*952C>G (n.*952C>G)
c.918C>G (p.Pro306=)
ClinVar dbSNP ExAC gnomAD v4
21g.44893503G=CA2391875910ITGB2c.1197C= (p.Pro399=)
c.1125C= (p.Pro375=)
c.954C= (p.Pro318=)
n.525C=
n.2694C=
c.*952C= (n.*952C=)
c.918C= (p.Pro306=)
21g.44893503G>TCA512551568ITGB2c.1197C>A (p.Pro399=)
c.1125C>A (p.Pro375=)
c.954C>A (p.Pro318=)
n.525C>A
n.2694C>A
c.*952C>A (n.*952C>A)
c.918C>A (p.Pro306=)
21g.44893504G>ACA410485977ITGB2c.1196C>T (p.Pro399Leu)
c.1124C>T (p.Pro375Leu)
c.953C>T (p.Pro318Leu)
n.524C>T
n.2693C>T
c.*951C>T (n.*951C>T)
c.917C>T (p.Pro306Leu)
gnomAD v4
21g.44893504G>CCA410485978ITGB2c.1196C>G (p.Pro399Arg)
c.1124C>G (p.Pro375Arg)
c.953C>G (p.Pro318Arg)
n.524C>G
n.2693C>G
c.*951C>G (n.*951C>G)
c.917C>G (p.Pro306Arg)
21g.44893504G>TCA410485980ITGB2c.1196C>A (p.Pro399His)
c.1124C>A (p.Pro375His)
c.953C>A (p.Pro318His)
n.524C>A
n.2693C>A
c.*951C>A (n.*951C>A)
c.917C>A (p.Pro306His)
21g.44893504_44893505insTCA2654867081ITGB2c.1195_1196insA (p.Pro399HisfsTer25)
c.1123_1124insA (p.Pro375HisfsTer25)
c.952_953insA (p.Pro318HisfsTer25)
n.523_524insA
n.2692_2693insA
c.*950_*951insA (n.*950_*951insA)
c.916_917insA (p.Pro306HisfsTer25)
gnomAD v4
21g.44893505G>ACA410485984ITGB2c.1195C>T (p.Pro399Ser)
c.1123C>T (p.Pro375Ser)
c.952C>T (p.Pro318Ser)
n.523C>T
n.2692C>T
c.*950C>T (n.*950C>T)
c.916C>T (p.Pro306Ser)
21g.44893505G>CCA410485986ITGB2c.1195C>G (p.Pro399Ala)
c.1123C>G (p.Pro375Ala)
c.952C>G (p.Pro318Ala)
n.523C>G
n.2692C>G
c.*950C>G (n.*950C>G)
c.916C>G (p.Pro306Ala)
21g.44893505G>TCA410485982ITGB2c.1195C>A (p.Pro399Thr)
c.1123C>A (p.Pro375Thr)
c.952C>A (p.Pro318Thr)
n.523C>A
n.2692C>A
c.*950C>A (n.*950C>A)
c.916C>A (p.Pro306Thr)
21g.44893506G>ACA321897618ITGB2c.1194C>T (p.Leu398=)
c.1122C>T (p.Leu374=)
c.951C>T (p.Leu317=)
n.522C>T
n.2691C>T
c.*949C>T (n.*949C>T)
c.915C>T (p.Leu305=)
dbSNP gnomAD v3 gnomAD v4
21g.44893506G>CCA512551569ITGB2c.1194C>G (p.Leu398=)
c.1122C>G (p.Leu374=)
c.951C>G (p.Leu317=)
n.522C>G
n.2691C>G
c.*949C>G (n.*949C>G)
c.915C>G (p.Leu305=)
gnomAD v4
21g.44893506G=CA2391875911ITGB2c.1194C= (p.Leu398=)
c.1122C= (p.Leu374=)
c.951C= (p.Leu317=)
n.522C=
n.2691C=
c.*949C= (n.*949C=)
c.915C= (p.Leu305=)
21g.44893506G>TCA512551570ITGB2c.1194C>A (p.Leu398=)
c.1122C>A (p.Leu374=)
c.951C>A (p.Leu317=)
n.522C>A
n.2691C>A
c.*949C>A (n.*949C>A)
c.915C>A (p.Leu305=)
21g.44893507A>CCA410485987ITGB2c.1193T>G (p.Leu398Arg)
c.1121T>G (p.Leu374Arg)
c.950T>G (p.Leu317Arg)
n.521T>G
n.2690T>G
c.*948T>G (n.*948T>G)
c.914T>G (p.Leu305Arg)
21g.44893507A>GCA410485990ITGB2c.1193T>C (p.Leu398Pro)
c.1121T>C (p.Leu374Pro)
c.950T>C (p.Leu317Pro)
n.521T>C
n.2690T>C
c.*948T>C (n.*948T>C)
c.914T>C (p.Leu305Pro)
21g.44893507A>TCA410485988ITGB2c.1193T>A (p.Leu398His)
c.1121T>A (p.Leu374His)
c.950T>A (p.Leu317His)
n.521T>A
n.2690T>A
c.*948T>A (n.*948T>A)
c.914T>A (p.Leu305His)
21g.44893508G>ACA410485992ITGB2c.1192C>T (p.Leu398Phe)
c.1120C>T (p.Leu374Phe)
c.949C>T (p.Leu317Phe)
n.520C>T
n.2689C>T
c.*947C>T (n.*947C>T)
c.913C>T (p.Leu305Phe)
21g.44893508G>CCA410485994ITGB2c.1192C>G (p.Leu398Val)
c.1120C>G (p.Leu374Val)
c.949C>G (p.Leu317Val)
n.520C>G
n.2689C>G
c.*947C>G (n.*947C>G)
c.913C>G (p.Leu305Val)
21g.44893508G>TCA410485996ITGB2c.1192C>A (p.Leu398Ile)
c.1120C>A (p.Leu374Ile)
c.949C>A (p.Leu317Ile)
n.520C>A
n.2689C>A
c.*947C>A (n.*947C>A)
c.913C>A (p.Leu305Ile)
21g.44893508_44893509insTCA2654867087ITGB2c.1191_1192insA (p.Leu398ThrfsTer26)
c.1119_1120insA (p.Leu374ThrfsTer26)
c.948_949insA (p.Leu317ThrfsTer26)
n.519_520insA
n.2688_2689insA
c.*946_*947insA (n.*946_*947insA)
c.912_913insA (p.Leu305ThrfsTer26)
gnomAD v4
21g.44893509G>ACA512551571ITGB2c.1191C>T (p.Ala397=)
c.1119C>T (p.Ala373=)
c.948C>T (p.Ala316=)
n.519C>T
n.2688C>T
c.*946C>T (n.*946C>T)
c.912C>T (p.Ala304=)
21g.44893509G>CCA512551573ITGB2c.1191C>G (p.Ala397=)
c.1119C>G (p.Ala373=)
c.948C>G (p.Ala316=)
n.519C>G
n.2688C>G
c.*946C>G (n.*946C>G)
c.912C>G (p.Ala304=)
21g.44893509G>TCA512551572ITGB2c.1191C>A (p.Ala397=)
c.1119C>A (p.Ala373=)
c.948C>A (p.Ala316=)
n.519C>A
n.2688C>A
c.*946C>A (n.*946C>A)
c.912C>A (p.Ala304=)
gnomAD v4
21g.44893510G>ACA410485998ITGB2c.1190C>T (p.Ala397Val)
c.1118C>T (p.Ala373Val)
c.947C>T (p.Ala316Val)
n.518C>T
n.2687C>T
c.*945C>T (n.*945C>T)
c.911C>T (p.Ala304Val)
21g.44893510G>CCA410486000ITGB2c.1190C>G (p.Ala397Gly)
c.1118C>G (p.Ala373Gly)
c.947C>G (p.Ala316Gly)
n.518C>G
n.2687C>G
c.*945C>G (n.*945C>G)
c.911C>G (p.Ala304Gly)
21g.44893510G>TCA410486002ITGB2c.1190C>A (p.Ala397Asp)
c.1118C>A (p.Ala373Asp)
c.947C>A (p.Ala316Asp)
n.518C>A
n.2687C>A
c.*945C>A (n.*945C>A)
c.911C>A (p.Ala304Asp)

Number of alleles fetched