Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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)
21g.44893511C>ACA410486005ITGB2c.1189G>T (p.Ala397Ser)
c.1117G>T (p.Ala373Ser)
c.946G>T (p.Ala316Ser)
n.517G>T
n.2686G>T
c.*944G>T (n.*944G>T)
c.910G>T (p.Ala304Ser)
21g.44893511C=CA2391875912ITGB2c.1189G= (p.Ala397=)
c.1117G= (p.Ala373=)
c.946G= (p.Ala316=)
n.517G=
n.2686G=
c.*944G= (n.*944G=)
c.910G= (p.Ala304=)
21g.44893511C>GCA410486004ITGB2c.1189G>C (p.Ala397Pro)
c.1117G>C (p.Ala373Pro)
c.946G>C (p.Ala316Pro)
n.517G>C
n.2686G>C
c.*944G>C (n.*944G>C)
c.910G>C (p.Ala304Pro)
 gnomAD v4
21g.44893511C>TCA10062922ITGB2c.1189G>A (p.Ala397Thr)
c.1117G>A (p.Ala373Thr)
c.946G>A (p.Ala316Thr)
n.517G>A
n.2686G>A
c.*944G>A (n.*944G>A)
c.910G>A (p.Ala304Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44893512G>ACA10062923ITGB2c.1188C>T (p.Asn396=)
c.1116C>T (p.Asn372=)
c.945C>T (p.Asn315=)
n.516C>T
n.2685C>T
c.*943C>T (n.*943C>T)
c.909C>T (p.Asn303=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44893512G>CCA410486007ITGB2c.1188C>G (p.Asn396Lys)
c.1116C>G (p.Asn372Lys)
c.945C>G (p.Asn315Lys)
n.516C>G
n.2685C>G
c.*943C>G (n.*943C>G)
c.909C>G (p.Asn303Lys)
 gnomAD v4
21g.44893512G=CA2391875913ITGB2c.1188C= (p.Asn396=)
c.1116C= (p.Asn372=)
c.945C= (p.Asn315=)
n.516C=
n.2685C=
c.*943C= (n.*943C=)
c.909C= (p.Asn303=)
21g.44893512G>TCA410486010ITGB2c.1188C>A (p.Asn396Lys)
c.1116C>A (p.Asn372Lys)
c.945C>A (p.Asn315Lys)
n.516C>A
n.2685C>A
c.*943C>A (n.*943C>A)
c.909C>A (p.Asn303Lys)
21g.44893513T>ACA410486012ITGB2c.1187A>T (p.Asn396Ile)
c.1115A>T (p.Asn372Ile)
c.944A>T (p.Asn315Ile)
n.515A>T
n.2684A>T
c.*942A>T (n.*942A>T)
c.908A>T (p.Asn303Ile)
 dbSNP gnomAD v3 gnomAD v4
21g.44893513T>CCA410486013ITGB2c.1187A>G (p.Asn396Ser)
c.1115A>G (p.Asn372Ser)
c.944A>G (p.Asn315Ser)
n.515A>G
n.2684A>G
c.*942A>G (n.*942A>G)
c.908A>G (p.Asn303Ser)
21g.44893513T>GCA410486014ITGB2c.1187A>C (p.Asn396Thr)
c.1115A>C (p.Asn372Thr)
c.944A>C (p.Asn315Thr)
n.515A>C
n.2684A>C
c.*942A>C (n.*942A>C)
c.908A>C (p.Asn303Thr)
21g.44893513T=CA2391875914ITGB2c.1187A= (p.Asn396=)
c.1115A= (p.Asn372=)
c.944A= (p.Asn315=)
n.515A=
n.2684A=
c.*942A= (n.*942A=)
c.908A= (p.Asn303=)
21g.44893514T>ACA410486016ITGB2c.1186A>T (p.Asn396Tyr)
c.1114A>T (p.Asn372Tyr)
c.943A>T (p.Asn315Tyr)
n.514A>T
n.2683A>T
c.*941A>T (n.*941A>T)
c.907A>T (p.Asn303Tyr)
21g.44893514T>CCA410486019ITGB2c.1186A>G (p.Asn396Asp)
c.1114A>G (p.Asn372Asp)
c.943A>G (p.Asn315Asp)
n.514A>G
n.2683A>G
c.*941A>G (n.*941A>G)
c.907A>G (p.Asn303Asp)
21g.44893514T>GCA410486018ITGB2c.1186A>C (p.Asn396His)
c.1114A>C (p.Asn372His)
c.943A>C (p.Asn315His)
n.514A>C
n.2683A>C
c.*941A>C (n.*941A>C)
c.907A>C (p.Asn303His)
21g.44893514_44893526delCA2654867095ITGB2c.1174_1186del (p.Phe392ThrfsTer7)
c.1102_1114del (p.Phe368ThrfsTer7)
c.931_943del (p.Phe311ThrfsTer7)
n.502_514del
n.2671_2683del
c.*929_*941del (n.*929_*941del)
c.895_907del (p.Phe299ThrfsTer7)
 gnomAD v4
21g.44893515G>ACA512551575ITGB2c.1185C>T (p.His395=)
c.1113C>T (p.His371=)
c.942C>T (p.His314=)
n.513C>T
n.2682C>T
c.*940C>T (n.*940C>T)
c.906C>T (p.His302=)
21g.44893515G>CCA410486021ITGB2c.1185C>G (p.His395Gln)
c.1113C>G (p.His371Gln)
c.942C>G (p.His314Gln)
n.513C>G
n.2682C>G
c.*940C>G (n.*940C>G)
c.906C>G (p.His302Gln)
21g.44893515G>TCA410486022ITGB2c.1185C>A (p.His395Gln)
c.1113C>A (p.His371Gln)
c.942C>A (p.His314Gln)
n.513C>A
n.2682C>A
c.*940C>A (n.*940C>A)
c.906C>A (p.His302Gln)
21g.44893516T>ACA410486024ITGB2c.1184A>T (p.His395Leu)
c.1112A>T (p.His371Leu)
c.941A>T (p.His314Leu)
n.512A>T
n.2681A>T
c.*939A>T (n.*939A>T)
c.905A>T (p.His302Leu)
 ClinVar dbSNP
21g.44893516T>CCA410486026ITGB2c.1184A>G (p.His395Arg)
c.1112A>G (p.His371Arg)
c.941A>G (p.His314Arg)
n.512A>G
n.2681A>G
c.*939A>G (n.*939A>G)
c.905A>G (p.His302Arg)
21g.44893516T>GCA410486028ITGB2c.1184A>C (p.His395Pro)
c.1112A>C (p.His371Pro)
c.941A>C (p.His314Pro)
n.512A>C
n.2681A>C
c.*939A>C (n.*939A>C)
c.905A>C (p.His302Pro)
21g.44893516T=CA2391875915ITGB2c.1184A= (p.His395=)
c.1112A= (p.His371=)
c.941A= (p.His314=)
n.512A=
n.2681A=
c.*939A= (n.*939A=)
c.905A= (p.His302=)
21g.44893517G>ACA410486030ITGB2c.1183C>T (p.His395Tyr)
c.1111C>T (p.His371Tyr)
c.940C>T (p.His314Tyr)
n.511C>T
n.2680C>T
c.*938C>T (n.*938C>T)
c.904C>T (p.His302Tyr)
 COSMIC
21g.44893517G>CCA410486032ITGB2c.1183C>G (p.His395Asp)
c.1111C>G (p.His371Asp)
c.940C>G (p.His314Asp)
n.511C>G
n.2680C>G
c.*938C>G (n.*938C>G)
c.904C>G (p.His302Asp)
21g.44893517G>TCA410486033ITGB2c.1183C>A (p.His395Asn)
c.1111C>A (p.His371Asn)
c.940C>A (p.His314Asn)
n.511C>A
n.2680C>A
c.*938C>A (n.*938C>A)
c.904C>A (p.His302Asn)
21g.44893518A=CA2391875916ITGB2c.1182T= (p.Asp394=)
c.1110T= (p.Asp370=)
c.939T= (p.Asp313=)
n.510T=
n.2679T=
c.*937T= (n.*937T=)
c.903T= (p.Asp301=)
21g.44893518A>CCA410486035ITGB2c.1182T>G (p.Asp394Glu)
c.1110T>G (p.Asp370Glu)
c.939T>G (p.Asp313Glu)
n.510T>G
n.2679T>G
c.*937T>G (n.*937T>G)
c.903T>G (p.Asp301Glu)
21g.44893518A>GCA321897648ITGB2c.1182T>C (p.Asp394=)
c.1110T>C (p.Asp370=)
c.939T>C (p.Asp313=)
n.510T>C
n.2679T>C
c.*937T>C (n.*937T>C)
c.903T>C (p.Asp301=)
 dbSNP
21g.44893518A>TCA410486038ITGB2c.1182T>A (p.Asp394Glu)
c.1110T>A (p.Asp370Glu)
c.939T>A (p.Asp313Glu)
n.510T>A
n.2679T>A
c.*937T>A (n.*937T>A)
c.903T>A (p.Asp301Glu)
21g.44893519T>ACA410486039ITGB2c.1181A>T (p.Asp394Val)
c.1109A>T (p.Asp370Val)
c.938A>T (p.Asp313Val)
n.509A>T
n.2678A>T
c.*936A>T (n.*936A>T)
c.902A>T (p.Asp301Val)
21g.44893519T>CCA410486043ITGB2c.1181A>G (p.Asp394Gly)
c.1109A>G (p.Asp370Gly)
c.938A>G (p.Asp313Gly)
n.509A>G
n.2678A>G
c.*936A>G (n.*936A>G)
c.902A>G (p.Asp301Gly)
21g.44893519T>GCA410486040ITGB2c.1181A>C (p.Asp394Ala)
c.1109A>C (p.Asp370Ala)
c.938A>C (p.Asp313Ala)
n.509A>C
n.2678A>C
c.*936A>C (n.*936A>C)
c.902A>C (p.Asp301Ala)
21g.44893520C>ACA410486044ITGB2c.1180G>T (p.Asp394Tyr)
c.1108G>T (p.Asp370Tyr)
c.937G>T (p.Asp313Tyr)
n.508G>T
n.2677G>T
c.*935G>T (n.*935G>T)
c.901G>T (p.Asp301Tyr)
21g.44893520C=CA2391875917ITGB2c.1180G= (p.Asp394=)
c.1108G= (p.Asp370=)
c.937G= (p.Asp313=)
n.508G=
n.2677G=
c.*935G= (n.*935G=)
c.901G= (p.Asp301=)
21g.44893520C>GCA410486046ITGB2c.1180G>C (p.Asp394His)
c.1108G>C (p.Asp370His)
c.937G>C (p.Asp313His)
n.508G>C
n.2677G>C
c.*935G>C (n.*935G>C)
c.901G>C (p.Asp301His)
 gnomAD v4
21g.44893520C>TCA321897659ITGB2c.1180G>A (p.Asp394Asn)
c.1108G>A (p.Asp370Asn)
c.937G>A (p.Asp313Asn)
n.508G>A
n.2677G>A
c.*935G>A (n.*935G>A)
c.901G>A (p.Asp301Asn)
 dbSNP gnomAD v2 gnomAD v4
21g.44893521C>ACA512551576ITGB2c.1179G>T (p.Leu393=)
c.1107G>T (p.Leu369=)
c.936G>T (p.Leu312=)
n.507G>T
n.2676G>T
c.*934G>T (n.*934G>T)
c.900G>T (p.Leu300=)
21g.44893521C>GCA512551577ITGB2c.1179G>C (p.Leu393=)
c.1107G>C (p.Leu369=)
c.936G>C (p.Leu312=)
n.507G>C
n.2676G>C
c.*934G>C (n.*934G>C)
c.900G>C (p.Leu300=)
21g.44893521C>TCA512551578ITGB2c.1179G>A (p.Leu393=)
c.1107G>A (p.Leu369=)
c.936G>A (p.Leu312=)
n.507G>A
n.2676G>A
c.*934G>A (n.*934G>A)
c.900G>A (p.Leu300=)
21g.44893522A>CCA410486048ITGB2c.1178T>G (p.Leu393Arg)
c.1106T>G (p.Leu369Arg)
c.935T>G (p.Leu312Arg)
n.506T>G
n.2675T>G
c.*933T>G (n.*933T>G)
c.899T>G (p.Leu300Arg)
21g.44893522A>GCA410486049ITGB2c.1178T>C (p.Leu393Pro)
c.1106T>C (p.Leu369Pro)
c.935T>C (p.Leu312Pro)
n.506T>C
n.2675T>C
c.*933T>C (n.*933T>C)
c.899T>C (p.Leu300Pro)
21g.44893522A>TCA410486051ITGB2c.1178T>A (p.Leu393Gln)
c.1106T>A (p.Leu369Gln)
c.935T>A (p.Leu312Gln)
n.506T>A
n.2675T>A
c.*933T>A (n.*933T>A)
c.899T>A (p.Leu300Gln)
21g.44893523G>ACA512551579ITGB2c.1177C>T (p.Leu393=)
c.1105C>T (p.Leu369=)
c.934C>T (p.Leu312=)
n.505C>T
n.2674C>T
c.*932C>T (n.*932C>T)
c.898C>T (p.Leu300=)
21g.44893523G>CCA410486052ITGB2c.1177C>G (p.Leu393Val)
c.1105C>G (p.Leu369Val)
c.934C>G (p.Leu312Val)
n.505C>G
n.2674C>G
c.*932C>G (n.*932C>G)
c.898C>G (p.Leu300Val)
21g.44893523G>TCA410486053ITGB2c.1177C>A (p.Leu393Met)
c.1105C>A (p.Leu369Met)
c.934C>A (p.Leu312Met)
n.505C>A
n.2674C>A
c.*932C>A (n.*932C>A)
c.898C>A (p.Leu300Met)
 ClinVar dbSNP
21g.44893524G>ACA512551580ITGB2c.1176C>T (p.Phe392=)
c.1104C>T (p.Phe368=)
c.933C>T (p.Phe311=)
n.504C>T
n.2673C>T
c.*931C>T (n.*931C>T)
c.897C>T (p.Phe299=)
 dbSNP gnomAD v2
21g.44893524G>CCA410486054ITGB2c.1176C>G (p.Phe392Leu)
c.1104C>G (p.Phe368Leu)
c.933C>G (p.Phe311Leu)
n.504C>G
n.2673C>G
c.*931C>G (n.*931C>G)
c.897C>G (p.Phe299Leu)
21g.44893524G=CA2391875918ITGB2c.1176C= (p.Phe392=)
c.1104C= (p.Phe368=)
c.933C= (p.Phe311=)
n.504C=
n.2673C=
c.*931C= (n.*931C=)
c.897C= (p.Phe299=)
21g.44893524G>TCA410486055ITGB2c.1176C>A (p.Phe392Leu)
c.1104C>A (p.Phe368Leu)
c.933C>A (p.Phe311Leu)
n.504C>A
n.2673C>A
c.*931C>A (n.*931C>A)
c.897C>A (p.Phe299Leu)
21g.44893525A>CCA410486056ITGB2c.1175T>G (p.Phe392Cys)
c.1103T>G (p.Phe368Cys)
c.932T>G (p.Phe311Cys)
n.503T>G
n.2672T>G
c.*930T>G (n.*930T>G)
c.896T>G (p.Phe299Cys)
21g.44893525A>GCA410486057ITGB2c.1175T>C (p.Phe392Ser)
c.1103T>C (p.Phe368Ser)
c.932T>C (p.Phe311Ser)
n.503T>C
n.2672T>C
c.*930T>C (n.*930T>C)
c.896T>C (p.Phe299Ser)
21g.44893525A>TCA410486058ITGB2c.1175T>A (p.Phe392Tyr)
c.1103T>A (p.Phe368Tyr)
c.932T>A (p.Phe311Tyr)
n.503T>A
n.2672T>A
c.*930T>A (n.*930T>A)
c.896T>A (p.Phe299Tyr)
21g.44893526A>CCA410486061ITGB2c.1174T>G (p.Phe392Val)
c.1102T>G (p.Phe368Val)
c.931T>G (p.Phe311Val)
n.502T>G
n.2671T>G
c.*929T>G (n.*929T>G)
c.895T>G (p.Phe299Val)
21g.44893526A>GCA410486063ITGB2c.1174T>C (p.Phe392Leu)
c.1102T>C (p.Phe368Leu)
c.931T>C (p.Phe311Leu)
n.502T>C
n.2671T>C
c.*929T>C (n.*929T>C)
c.895T>C (p.Phe299Leu)
21g.44893526A>TCA410486062ITGB2c.1174T>A (p.Phe392Ile)
c.1102T>A (p.Phe368Ile)
c.931T>A (p.Phe311Ile)
n.502T>A
n.2671T>A
c.*929T>A (n.*929T>A)
c.895T>A (p.Phe299Ile)
21g.44893527G>ACA512551581ITGB2c.1173C>T (p.Val391=)
c.1101C>T (p.Val367=)
c.930C>T (p.Val310=)
n.501C>T
n.2670C>T
c.*928C>T (n.*928C>T)
c.894C>T (p.Val298=)
21g.44893527G>CCA512551582ITGB2c.1173C>G (p.Val391=)
c.1101C>G (p.Val367=)
c.930C>G (p.Val310=)
n.501C>G
n.2670C>G
c.*928C>G (n.*928C>G)
c.894C>G (p.Val298=)
21g.44893527G=CA2391875919ITGB2c.1173C= (p.Val391=)
c.1101C= (p.Val367=)
c.930C= (p.Val310=)
n.501C=
n.2670C=
c.*928C= (n.*928C=)
c.894C= (p.Val298=)
21g.44893527G>TCA249756ITGB2c.1173C>A (p.Val391=)
c.1101C>A (p.Val367=)
c.930C>A (p.Val310=)
n.501C>A
n.2670C>A
c.*928C>A (n.*928C>A)
c.894C>A (p.Val298=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44893528A>CCA410486065ITGB2c.1172T>G (p.Val391Gly)
c.1100T>G (p.Val367Gly)
c.929T>G (p.Val310Gly)
n.500T>G
n.2669T>G
c.*927T>G (n.*927T>G)
c.893T>G (p.Val298Gly)
21g.44893528A>GCA410486066ITGB2c.1172T>C (p.Val391Ala)
c.1100T>C (p.Val367Ala)
c.929T>C (p.Val310Ala)
n.500T>C
n.2669T>C
c.*927T>C (n.*927T>C)
c.893T>C (p.Val298Ala)
21g.44893528A>TCA410486067ITGB2c.1172T>A (p.Val391Asp)
c.1100T>A (p.Val367Asp)
c.929T>A (p.Val310Asp)
n.500T>A
n.2669T>A
c.*927T>A (n.*927T>A)
c.893T>A (p.Val298Asp)
21g.44893529C>ACA410486068ITGB2c.1171G>T (p.Val391Phe)
c.1099G>T (p.Val367Phe)
c.928G>T (p.Val310Phe)
n.499G>T
n.2668G>T
c.*926G>T (n.*926G>T)
c.892G>T (p.Val298Phe)
21g.44893529C>GCA410486069ITGB2c.1171G>C (p.Val391Leu)
c.1099G>C (p.Val367Leu)
c.928G>C (p.Val310Leu)
n.499G>C
n.2668G>C
c.*926G>C (n.*926G>C)
c.892G>C (p.Val298Leu)
21g.44893529C>TCA410486071ITGB2c.1171G>A (p.Val391Ile)
c.1099G>A (p.Val367Ile)
c.928G>A (p.Val310Ile)
n.499G>A
n.2668G>A
c.*926G>A (n.*926G>A)
c.892G>A (p.Val298Ile)
 gnomAD v4
21g.44893531delCA2695230450ITGB2c.1171del (p.Val391SerfsTer12)
c.1099del (p.Val367SerfsTer12)
c.928del (p.Val310SerfsTer12)
n.499del
n.2668del
c.*926del (n.*926del)
c.892del (p.Val298SerfsTer12)
21g.44893530C>ACA410486072ITGB2c.1170G>T (p.Arg390Ser)
c.1098G>T (p.Arg366Ser)
c.927G>T (p.Arg309Ser)
n.498G>T
n.2667G>T
c.*925G>T (n.*925G>T)
c.891G>T (p.Arg297Ser)
21g.44893530C>GCA410486073ITGB2c.1170G>C (p.Arg390Ser)
c.1098G>C (p.Arg366Ser)
c.927G>C (p.Arg309Ser)
n.498G>C
n.2667G>C
c.*925G>C (n.*925G>C)
c.891G>C (p.Arg297Ser)
21g.44893530C>TCA512551583ITGB2c.1170G>A (p.Arg390=)
c.1098G>A (p.Arg366=)
c.927G>A (p.Arg309=)
n.498G>A
n.2667G>A
c.*925G>A (n.*925G>A)
c.891G>A (p.Arg297=)
21g.44893531C>ACA410486078ITGB2c.1169G>T (p.Arg390Met)
c.1097G>T (p.Arg366Met)
c.926G>T (p.Arg309Met)
n.497G>T
n.2666G>T
c.*924G>T (n.*924G>T)
c.890G>T (p.Arg297Met)
21g.44893531C=CA2391875920ITGB2c.1169G= (p.Arg390=)
c.1097G= (p.Arg366=)
c.926G= (p.Arg309=)
n.497G=
n.2666G=
c.*924G= (n.*924G=)
c.890G= (p.Arg297=)
21g.44893531C>GCA410486077ITGB2c.1169G>C (p.Arg390Thr)
c.1097G>C (p.Arg366Thr)
c.926G>C (p.Arg309Thr)
n.497G>C
n.2666G>C
c.*924G>C (n.*924G>C)
c.890G>C (p.Arg297Thr)
 dbSNP
21g.44893531C>TCA410486075ITGB2c.1169G>A (p.Arg390Lys)
c.1097G>A (p.Arg366Lys)
c.926G>A (p.Arg309Lys)
n.497G>A
n.2666G>A
c.*924G>A (n.*924G>A)
c.890G>A (p.Arg297Lys)
21g.44893532T>ACA410486079ITGB2c.1168A>T (p.Arg390Trp)
c.1096A>T (p.Arg366Trp)
c.925A>T (p.Arg309Trp)
n.496A>T
n.2665A>T
c.*923A>T (n.*923A>T)
c.889A>T (p.Arg297Trp)
21g.44893532T>CCA410486080ITGB2c.1168A>G (p.Arg390Gly)
c.1096A>G (p.Arg366Gly)
c.925A>G (p.Arg309Gly)
n.496A>G
n.2665A>G
c.*923A>G (n.*923A>G)
c.889A>G (p.Arg297Gly)
 gnomAD v4
21g.44893532T>GCA512551584ITGB2c.1168A>C (p.Arg390=)
c.1096A>C (p.Arg366=)
c.925A>C (p.Arg309=)
n.496A>C
n.2665A>C
c.*923A>C (n.*923A>C)
c.889A>C (p.Arg297=)
21g.44893532_44893534delCA2654867100ITGB2c.1166_1168del (p.Ser389_Arg390delinsTrp)
c.1094_1096del (p.Ser365_Arg366delinsTrp)
c.923_925del (p.Ser308_Arg309delinsTrp)
n.494_496del
n.2663_2665del
c.*921_*923del (n.*921_*923del)
c.887_889del (p.Ser296_Arg297delinsTrp)
 gnomAD v4
21g.44893533G>ACA512551587ITGB2c.1167C>T (p.Ser389=)
c.1095C>T (p.Ser365=)
c.924C>T (p.Ser308=)
n.495C>T
n.2664C>T
c.*922C>T (n.*922C>T)
c.888C>T (p.Ser296=)
 dbSNP gnomAD v4
21g.44893533G>CCA512551585ITGB2c.1167C>G (p.Ser389=)
c.1095C>G (p.Ser365=)
c.924C>G (p.Ser308=)
n.495C>G
n.2664C>G
c.*922C>G (n.*922C>G)
c.888C>G (p.Ser296=)
21g.44893533G=CA2391875921ITGB2c.1167C= (p.Ser389=)
c.1095C= (p.Ser365=)
c.924C= (p.Ser308=)
n.495C=
n.2664C=
c.*922C= (n.*922C=)
c.888C= (p.Ser296=)
21g.44893533G>TCA512551586ITGB2c.1167C>A (p.Ser389=)
c.1095C>A (p.Ser365=)
c.924C>A (p.Ser308=)
n.495C>A
n.2664C>A
c.*922C>A (n.*922C>A)
c.888C>A (p.Ser296=)
21g.44893534delCA2537866108ITGB2c.1167del (p.Arg390GlyfsTer13)
c.1095del (p.Arg366GlyfsTer13)
c.924del (p.Arg309GlyfsTer13)
n.495del
n.2664del
c.*922del (n.*922del)
c.888del (p.Arg297GlyfsTer13)
21g.44893534G>ACA410486081ITGB2c.1166C>T (p.Ser389Phe)
c.1094C>T (p.Ser365Phe)
c.923C>T (p.Ser308Phe)
n.494C>T
n.2663C>T
c.*921C>T (n.*921C>T)
c.887C>T (p.Ser296Phe)
 dbSNP
21g.44893534G>CCA410486082ITGB2c.1166C>G (p.Ser389Cys)
c.1094C>G (p.Ser365Cys)
c.923C>G (p.Ser308Cys)
n.494C>G
n.2663C>G
c.*921C>G (n.*921C>G)
c.887C>G (p.Ser296Cys)
21g.44893534G=CA2391875922ITGB2c.1166C= (p.Ser389=)
c.1094C= (p.Ser365=)
c.923C= (p.Ser308=)
n.494C=
n.2663C=
c.*921C= (n.*921C=)
c.887C= (p.Ser296=)
21g.44893534G>TCA410486084ITGB2c.1166C>A (p.Ser389Tyr)
c.1094C>A (p.Ser365Tyr)
c.923C>A (p.Ser308Tyr)
n.494C>A
n.2663C>A
c.*921C>A (n.*921C>A)
c.887C>A (p.Ser296Tyr)
21g.44893535A>CCA410486085ITGB2c.1165T>G (p.Ser389Ala)
c.1093T>G (p.Ser365Ala)
c.922T>G (p.Ser308Ala)
n.493T>G
n.2662T>G
c.*920T>G (n.*920T>G)
c.886T>G (p.Ser296Ala)
21g.44893535A>GCA410486087ITGB2c.1165T>C (p.Ser389Pro)
c.1093T>C (p.Ser365Pro)
c.922T>C (p.Ser308Pro)
n.493T>C
n.2662T>C
c.*920T>C (n.*920T>C)
c.886T>C (p.Ser296Pro)
21g.44893535A>TCA410486089ITGB2c.1165T>A (p.Ser389Thr)
c.1093T>A (p.Ser365Thr)
c.922T>A (p.Ser308Thr)
n.493T>A
n.2662T>A
c.*920T>A (n.*920T>A)
c.886T>A (p.Ser296Thr)
21g.44893536G>ACA512551588ITGB2c.1164C>T (p.Ser388=)
c.1092C>T (p.Ser364=)
c.921C>T (p.Ser307=)
n.492C>T
n.2661C>T
c.*919C>T (n.*919C>T)
c.885C>T (p.Ser295=)
 gnomAD v4
21g.44893536G>CCA512551589ITGB2c.1164C>G (p.Ser388=)
c.1092C>G (p.Ser364=)
c.921C>G (p.Ser307=)
n.492C>G
n.2661C>G
c.*919C>G (n.*919C>G)
c.885C>G (p.Ser295=)
21g.44893536G>TCA512551590ITGB2c.1164C>A (p.Ser388=)
c.1092C>A (p.Ser364=)
c.921C>A (p.Ser307=)
n.492C>A
n.2661C>A
c.*919C>A (n.*919C>A)
c.885C>A (p.Ser295=)
21g.44893537G>ACA410486090ITGB2c.1163C>T (p.Ser388Phe)
c.1091C>T (p.Ser364Phe)
c.920C>T (p.Ser307Phe)
n.491C>T
n.2660C>T
c.*918C>T (n.*918C>T)
c.884C>T (p.Ser295Phe)
21g.44893537G>CCA410486092ITGB2c.1163C>G (p.Ser388Cys)
c.1091C>G (p.Ser364Cys)
c.920C>G (p.Ser307Cys)
n.491C>G
n.2660C>G
c.*918C>G (n.*918C>G)
c.884C>G (p.Ser295Cys)
21g.44893537G>TCA410486094ITGB2c.1163C>A (p.Ser388Tyr)
c.1091C>A (p.Ser364Tyr)
c.920C>A (p.Ser307Tyr)
n.491C>A
n.2660C>A
c.*918C>A (n.*918C>A)
c.884C>A (p.Ser295Tyr)
21g.44893538delCA2654867103ITGB2c.1162del (p.Ser388ProfsTer15)
c.1090del (p.Ser364ProfsTer15)
c.919del (p.Ser307ProfsTer15)
n.490del
n.2659del
c.*917del (n.*917del)
c.883del (p.Ser295ProfsTer15)
 gnomAD v4
21g.44893538A>CCA410486096ITGB2c.1162T>G (p.Ser388Ala)
c.1090T>G (p.Ser364Ala)
c.919T>G (p.Ser307Ala)
n.490T>G
n.2659T>G
c.*917T>G (n.*917T>G)
c.883T>G (p.Ser295Ala)
21g.44893538A>GCA410486098ITGB2c.1162T>C (p.Ser388Pro)
c.1090T>C (p.Ser364Pro)
c.919T>C (p.Ser307Pro)
n.490T>C
n.2659T>C
c.*917T>C (n.*917T>C)
c.883T>C (p.Ser295Pro)
21g.44893538A>TCA410486099ITGB2c.1162T>A (p.Ser388Thr)
c.1090T>A (p.Ser364Thr)
c.919T>A (p.Ser307Thr)
n.490T>A
n.2659T>A
c.*917T>A (n.*917T>A)
c.883T>A (p.Ser295Thr)
21g.44893539G>ACA512551591ITGB2c.1161C>T (p.Leu387=)
c.1089C>T (p.Leu363=)
c.918C>T (p.Leu306=)
n.489C>T
n.2658C>T
c.*916C>T (n.*916C>T)
c.882C>T (p.Leu294=)
21g.44893539G>CCA512551592ITGB2c.1161C>G (p.Leu387=)
c.1089C>G (p.Leu363=)
c.918C>G (p.Leu306=)
n.489C>G
n.2658C>G
c.*916C>G (n.*916C>G)
c.882C>G (p.Leu294=)
21g.44893539G>TCA512551593ITGB2c.1161C>A (p.Leu387=)
c.1089C>A (p.Leu363=)
c.918C>A (p.Leu306=)
n.489C>A
n.2658C>A
c.*916C>A (n.*916C>A)
c.882C>A (p.Leu294=)
21g.44893540A>CCA410486107ITGB2c.1160T>G (p.Leu387Arg)
c.1088T>G (p.Leu363Arg)
c.917T>G (p.Leu306Arg)
n.488T>G
n.2657T>G
c.*915T>G (n.*915T>G)
c.881T>G (p.Leu294Arg)
21g.44893540A>GCA410486105ITGB2c.1160T>C (p.Leu387Pro)
c.1088T>C (p.Leu363Pro)
c.917T>C (p.Leu306Pro)
n.488T>C
n.2657T>C
c.*915T>C (n.*915T>C)
c.881T>C (p.Leu294Pro)
21g.44893540A>TCA410486106ITGB2c.1160T>A (p.Leu387His)
c.1088T>A (p.Leu363His)
c.917T>A (p.Leu306His)
n.488T>A
n.2657T>A
c.*915T>A (n.*915T>A)
c.881T>A (p.Leu294His)
21g.44893541delCA2654867105ITGB2c.1159del (p.Leu387SerfsTer16)
c.1087del (p.Leu363SerfsTer16)
c.916del (p.Leu306SerfsTer16)
n.487del
n.2656del
c.*914del (n.*914del)
c.880del (p.Leu294SerfsTer16)
 gnomAD v4
21g.44893541G>ACA410486109ITGB2c.1159C>T (p.Leu387Phe)
c.1087C>T (p.Leu363Phe)
c.916C>T (p.Leu306Phe)
n.487C>T
n.2656C>T
c.*914C>T (n.*914C>T)
c.880C>T (p.Leu294Phe)
21g.44893541G>CCA410486110ITGB2c.1159C>G (p.Leu387Val)
c.1087C>G (p.Leu363Val)
c.916C>G (p.Leu306Val)
n.487C>G
n.2656C>G
c.*914C>G (n.*914C>G)
c.880C>G (p.Leu294Val)
21g.44893541G>TCA410486112ITGB2c.1159C>A (p.Leu387Ile)
c.1087C>A (p.Leu363Ile)
c.916C>A (p.Leu306Ile)
n.487C>A
n.2656C>A
c.*914C>A (n.*914C>A)
c.880C>A (p.Leu294Ile)
21g.44893542T>ACA410486115ITGB2c.1158A>T (p.Lys386Asn)
c.1086A>T (p.Lys362Asn)
c.915A>T (p.Lys305Asn)
n.486A>T
n.2655A>T
c.*913A>T (n.*913A>T)
c.879A>T (p.Lys293Asn)
21g.44893542T>CCA512551594ITGB2c.1158A>G (p.Lys386=)
c.1086A>G (p.Lys362=)
c.915A>G (p.Lys305=)
n.486A>G
n.2655A>G
c.*913A>G (n.*913A>G)
c.879A>G (p.Lys293=)
 gnomAD v4
21g.44893542T>GCA410486116ITGB2c.1158A>C (p.Lys386Asn)
c.1086A>C (p.Lys362Asn)
c.915A>C (p.Lys305Asn)
n.486A>C
n.2655A>C
c.*913A>C (n.*913A>C)
c.879A>C (p.Lys293Asn)
 gnomAD v3 gnomAD v4
21g.44893543T>ACA410486117ITGB2c.1157A>T (p.Lys386Ile)
c.1085A>T (p.Lys362Ile)
c.914A>T (p.Lys305Ile)
n.485A>T
n.2654A>T
c.*912A>T (n.*912A>T)
c.878A>T (p.Lys293Ile)
21g.44893543T>CCA410486118ITGB2c.1157A>G (p.Lys386Arg)
c.1085A>G (p.Lys362Arg)
c.914A>G (p.Lys305Arg)
n.485A>G
n.2654A>G
c.*912A>G (n.*912A>G)
c.878A>G (p.Lys293Arg)
21g.44893543T>GCA410486119ITGB2c.1157A>C (p.Lys386Thr)
c.1085A>C (p.Lys362Thr)
c.914A>C (p.Lys305Thr)
n.485A>C
n.2654A>C
c.*912A>C (n.*912A>C)
c.878A>C (p.Lys293Thr)
21g.44893544T>ACA410486121ITGB2c.1156A>T (p.Lys386Ter)
c.1084A>T (p.Lys362Ter)
c.913A>T (p.Lys305Ter)
n.484A>T
n.2653A>T
c.*911A>T (n.*911A>T)
c.877A>T (p.Lys293Ter)
21g.44893544T>CCA410486123ITGB2c.1156A>G (p.Lys386Glu)
c.1084A>G (p.Lys362Glu)
c.913A>G (p.Lys305Glu)
n.484A>G
n.2653A>G
c.*911A>G (n.*911A>G)
c.877A>G (p.Lys293Glu)
21g.44893544T>GCA410486125ITGB2c.1156A>C (p.Lys386Gln)
c.1084A>C (p.Lys362Gln)
c.913A>C (p.Lys305Gln)
n.484A>C
n.2653A>C
c.*911A>C (n.*911A>C)
c.877A>C (p.Lys293Gln)
21g.44893545C>ACA321897673ITGB2c.1156-1G>T (n.1156-1G>T)
c.1084-1G>T (n.1084-1G>T)
c.913-1G>T (n.913-1G>T)
n.483G>T
n.2652G>T
c.*911-1G>T (n.*911-1G>T)
c.877-1G>T (n.877-1G>T)
 dbSNP
21g.44893545C=CA2391875923ITGB2c.1156-1G= (n.1156-1G=)
c.1084-1G= (n.1084-1G=)
c.913-1G= (n.913-1G=)
n.483G=
n.2652G=
c.*911-1G= (n.*911-1G=)
c.877-1G= (n.877-1G=)
21g.44893545C>GCA410486130ITGB2c.1156-1G>C (n.1156-1G>C)
c.1084-1G>C (n.1084-1G>C)
c.913-1G>C (n.913-1G>C)
n.483G>C
n.2652G>C
c.*911-1G>C (n.*911-1G>C)
c.877-1G>C (n.877-1G>C)
21g.44893545C>TCA410486127ITGB2c.1156-1G>A (n.1156-1G>A)
c.1084-1G>A (n.1084-1G>A)
c.913-1G>A (n.913-1G>A)
n.483G>A
n.2652G>A
c.*911-1G>A (n.*911-1G>A)
c.877-1G>A (n.877-1G>A)
21g.44893545_44893548delCA2654867106ITGB2c.1156-4_1156-1del (n.1156-4_1156-1del)
c.1084-4_1084-1del (n.1084-4_1084-1del)
c.913-4_913-1del (n.913-4_913-1del)
n.480_483del
n.2649_2652del
c.*911-4_*911-1del (n.*911-4_*911-1del)
c.877-4_877-1del (n.877-4_877-1del)
 gnomAD v4
21g.44893546T>ACA410486131ITGB2c.1156-2A>T (n.1156-2A>T)
c.1084-2A>T (n.1084-2A>T)
c.913-2A>T (n.913-2A>T)
n.482A>T
n.2651A>T
c.*911-2A>T (n.*911-2A>T)
c.877-2A>T (n.877-2A>T)
21g.44893546T>CCA410486133ITGB2c.1156-2A>G (n.1156-2A>G)
c.1084-2A>G (n.1084-2A>G)
c.913-2A>G (n.913-2A>G)
n.482A>G
n.2651A>G
c.*911-2A>G (n.*911-2A>G)
c.877-2A>G (n.877-2A>G)
21g.44893546T>GCA410486135ITGB2c.1156-2A>C (n.1156-2A>C)
c.1084-2A>C (n.1084-2A>C)
c.913-2A>C (n.913-2A>C)
n.482A>C
n.2651A>C
c.*911-2A>C (n.*911-2A>C)
c.877-2A>C (n.877-2A>C)
21g.44893547G>ACA2654867107ITGB2c.1156-3C>T (n.1156-3C>T)
c.1084-3C>T (n.1084-3C>T)
c.913-3C>T (n.913-3C>T)
n.481C>T
n.2650C>T
c.*911-3C>T (n.*911-3C>T)
c.877-3C>T (n.877-3C>T)
 gnomAD v4
21g.44893548C>ACA10062925ITGB2c.1156-4G>T (n.1156-4G>T)
c.1084-4G>T (n.1084-4G>T)
c.913-4G>T (n.913-4G>T)
n.480G>T
n.2649G>T
c.*911-4G>T (n.*911-4G>T)
c.877-4G>T (n.877-4G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.44893548C=CA2391875924ITGB2c.1156-4G= (n.1156-4G=)
c.1084-4G= (n.1084-4G=)
c.913-4G= (n.913-4G=)
n.480G=
n.2649G=
c.*911-4G= (n.*911-4G=)
c.877-4G= (n.877-4G=)
21g.44893548C>GCA512551595ITGB2c.1156-4G>C (n.1156-4G>C)
c.1084-4G>C (n.1084-4G>C)
c.913-4G>C (n.913-4G>C)
n.480G>C
n.2649G>C
c.*911-4G>C (n.*911-4G>C)
c.877-4G>C (n.877-4G>C)
 dbSNP gnomAD v2 gnomAD v4
21g.44893548C>TCA10062924ITGB2c.1156-4G>A (n.1156-4G>A)
c.1084-4G>A (n.1084-4G>A)
c.913-4G>A (n.913-4G>A)
n.480G>A
n.2649G>A
c.*911-4G>A (n.*911-4G>A)
c.877-4G>A (n.877-4G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44893549G>ACA10062926ITGB2c.1156-5C>T (n.1156-5C>T)
c.1084-5C>T (n.1084-5C>T)
c.913-5C>T (n.913-5C>T)
n.479C>T
n.2648C>T
c.*911-5C>T (n.*911-5C>T)
c.877-5C>T (n.877-5C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44893549G>CCA638153660ITGB2c.1156-5C>G (n.1156-5C>G)
c.1084-5C>G (n.1084-5C>G)
c.913-5C>G (n.913-5C>G)
n.479C>G
n.2648C>G
c.*911-5C>G (n.*911-5C>G)
c.877-5C>G (n.877-5C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.44893549G=CA2391875925ITGB2c.1156-5C= (n.1156-5C=)
c.1084-5C= (n.1084-5C=)
c.913-5C= (n.913-5C=)
n.479C=
n.2648C=
c.*911-5C= (n.*911-5C=)
c.877-5C= (n.877-5C=)
21g.44893550G>ACA2391875927ITGB2c.1156-6C>T (n.1156-6C>T)
c.1084-6C>T (n.1084-6C>T)
c.913-6C>T (n.913-6C>T)
n.478C>T
n.2647C>T
c.*911-6C>T (n.*911-6C>T)
c.877-6C>T (n.877-6C>T)
 ClinVar dbSNP gnomAD v4
21g.44893550G=CA2391875926ITGB2c.1156-6C= (n.1156-6C=)
c.1084-6C= (n.1084-6C=)
c.913-6C= (n.913-6C=)
n.478C=
n.2647C=
c.*911-6C= (n.*911-6C=)
c.877-6C= (n.877-6C=)
21g.44893550G>TCA2737602230ITGB2c.1156-6C>A (n.1156-6C>A)
c.1084-6C>A (n.1084-6C>A)
c.913-6C>A (n.913-6C>A)
n.478C>A
n.2647C>A
c.*911-6C>A (n.*911-6C>A)
c.877-6C>A (n.877-6C>A)
 dbSNP
21g.44893551_44893552insGCTCCA2654867110ITGB2c.1156-8_1156-7insGAGC (n.1156-8_1156-7insGAGC)
c.1084-8_1084-7insGAGC (n.1084-8_1084-7insGAGC)
c.913-8_913-7insGAGC (n.913-8_913-7insGAGC)
n.476_477insGAGC
n.2645_2646insGAGC
c.*911-8_*911-7insGAGC (n.*911-8_*911-7insGAGC)
c.877-8_877-7insGAGC (n.877-8_877-7insGAGC)
 gnomAD v4
21g.44893552C>TCA2654867111ITGB2c.1156-8G>A (n.1156-8G>A)
c.1084-8G>A (n.1084-8G>A)
c.913-8G>A (n.913-8G>A)
n.476G>A
n.2645G>A
c.*911-8G>A (n.*911-8G>A)
c.877-8G>A (n.877-8G>A)
 gnomAD v4
21g.44893552_44893554delinsCAGCA2391875928ITGB2c.1156-10_1156-8delinsCTG (n.1156-10_1156-8delinsCTG)
c.1084-10_1084-8delinsCTG (n.1084-10_1084-8delinsCTG)
c.913-10_913-8delinsCTG (n.913-10_913-8delinsCTG)
n.474_476delinsCTG
n.2643_2645delinsCTG
c.*911-10_*911-8delinsCTG (n.*911-10_*911-8delinsCTG)
c.877-10_877-8delinsCTG (n.877-10_877-8delinsCTG)
21g.44893557_44893558delCA10062927ITGB2c.1156-10_1156-9del (n.1156-10_1156-9del)
c.1084-10_1084-9del (n.1084-10_1084-9del)
c.913-10_913-9del (n.913-10_913-9del)
n.474_475del
n.2643_2644del
c.*911-10_*911-9del (n.*911-10_*911-9del)
c.877-10_877-9del (n.877-10_877-9del)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.44893554G=CA2391875929ITGB2c.1156-10C= (n.1156-10C=)
c.1084-10C= (n.1084-10C=)
c.913-10C= (n.913-10C=)
n.474C=
n.2643C=
c.*911-10C= (n.*911-10C=)
c.877-10C= (n.877-10C=)
21g.44893554G>TCA10062928ITGB2c.1156-10C>A (n.1156-10C>A)
c.1084-10C>A (n.1084-10C>A)
c.913-10C>A (n.913-10C>A)
n.474C>A
n.2643C>A
c.*911-10C>A (n.*911-10C>A)
c.877-10C>A (n.877-10C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.44893554_44893555insGTTGCA2654867112ITGB2c.1156-10_1156-9insAACC (n.1156-10_1156-9insAACC)
c.1084-10_1084-9insAACC (n.1084-10_1084-9insAACC)
c.913-10_913-9insAACC (n.913-10_913-9insAACC)
n.474_475insAACC
n.2643_2644insAACC
c.*911-10_*911-9insAACC (n.*911-10_*911-9insAACC)
c.877-10_877-9insAACC (n.877-10_877-9insAACC)
 gnomAD v4

Number of alleles fetched