Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.44893451_44893463del | CA2580098846 | ITGB2 | c.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 |
21 | g.44893449C>A | CA410485775 | ITGB2 | c.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) | |
21 | g.44893449C= | CA2391875887 | ITGB2 | c.1251G= (p.Arg417=) c.1179G= (p.Arg393=) c.1008G= (p.Arg336=) n.579G= n.2748G= c.*1006G= (n.*1006G=) c.972G= (p.Arg324=) | |
21 | g.44893449C>G | CA410485776 | ITGB2 | c.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 |
21 | g.44893449C>T | CA512551531 | ITGB2 | c.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=) | |
21 | g.44893450C>A | CA410485778 | ITGB2 | c.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) | |
21 | g.44893450C>G | CA410485780 | ITGB2 | c.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) | |
21 | g.44893450C>T | CA410485782 | ITGB2 | c.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) | |
21 | g.44893451T>A | CA410485784 | ITGB2 | c.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) | |
21 | g.44893451T>C | CA410485786 | ITGB2 | c.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 |
21 | g.44893451T>G | CA512551532 | ITGB2 | c.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=) | |
21 | g.44893451T= | CA2391875888 | ITGB2 | c.1249A= (p.Arg417=) c.1177A= (p.Arg393=) c.1006A= (p.Arg336=) n.577A= n.2746A= c.*1004A= (n.*1004A=) c.970A= (p.Arg324=) | |
21 | g.44893452G>A | CA10062908 | ITGB2 | c.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 |
21 | g.44893452G>C | CA10062907 | ITGB2 | c.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 |
21 | g.44893452G= | CA2391875889 | ITGB2 | c.1248C= (p.His416=) c.1176C= (p.His392=) c.1005C= (p.His335=) n.576C= n.2745C= c.*1003C= (n.*1003C=) c.969C= (p.His323=) | |
21 | g.44893452G>T | CA410485788 | ITGB2 | c.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) | |
21 | g.44893453T>A | CA410485790 | ITGB2 | c.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) | |
21 | g.44893453T>C | CA410485793 | ITGB2 | c.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 |
21 | g.44893453T>G | CA410485792 | ITGB2 | c.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) | |
21 | g.44893453T= | CA2391875890 | ITGB2 | c.1247A= (p.His416=) c.1175A= (p.His392=) c.1004A= (p.His335=) n.575A= n.2744A= c.*1002A= (n.*1002A=) c.968A= (p.His323=) | |
21 | g.44893454del | CA2577624338 | ITGB2 | c.1246del (p.His416ThrfsTer22) c.1174del (p.His392ThrfsTer22) c.1003del (p.His335ThrfsTer22) n.574del n.2743del c.*1001del (n.*1001del) c.967del (p.His323ThrfsTer22) | |
21 | g.44893454G>A | CA410485795 | ITGB2 | c.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) | |
21 | g.44893454G>C | CA410485798 | ITGB2 | c.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) | |
21 | g.44893454G>T | CA410485797 | ITGB2 | c.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) | |
21 | g.44893455C>A | CA10062910 | ITGB2 | c.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 |
21 | g.44893455C= | CA2391875891 | ITGB2 | c.1245G= (p.Thr415=) c.1173G= (p.Thr391=) c.1002G= (p.Thr334=) n.573G= n.2742G= c.*1000G= (n.*1000G=) c.966G= (p.Thr322=) | |
21 | g.44893455C>G | CA512551533 | ITGB2 | c.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=) | |
21 | g.44893455C>T | CA10062909 | ITGB2 | c.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 |
21 | g.44893456G>A | CA10062911 | ITGB2 | c.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 |
21 | g.44893456G>C | CA410485802 | ITGB2 | c.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) | |
21 | g.44893456G= | CA2391875892 | ITGB2 | c.1244C= (p.Thr415=) c.1172C= (p.Thr391=) c.1001C= (p.Thr334=) n.572C= n.2741C= c.*999C= (n.*999C=) c.965C= (p.Thr322=) | |
21 | g.44893456G>T | CA410485803 | ITGB2 | c.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 |
21 | g.44893457T>A | CA410485805 | ITGB2 | c.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 |
21 | g.44893457T>C | CA410485806 | ITGB2 | c.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 |
21 | g.44893457T>G | CA410485808 | ITGB2 | c.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) | |
21 | g.44893458C>A | CA512551534 | ITGB2 | c.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=) | |
21 | g.44893458C>G | CA512551535 | ITGB2 | c.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=) | |
21 | g.44893458C>T | CA512551536 | ITGB2 | c.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=) | |
21 | g.44893459A>C | CA410485809 | ITGB2 | c.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) | |
21 | g.44893459A>G | CA410485810 | ITGB2 | c.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) | |
21 | g.44893459A>T | CA410485812 | ITGB2 | c.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) | |
21 | g.44893460C>A | CA410485814 | ITGB2 | c.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) | |
21 | g.44893460C>G | CA410485815 | ITGB2 | c.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) | |
21 | g.44893460C>T | CA410485816 | ITGB2 | c.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 |
21 | g.44893461T>A | CA512551540 | ITGB2 | c.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=) | |
21 | g.44893461T>C | CA512551542 | ITGB2 | c.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 |
21 | g.44893461T>G | CA512551541 | ITGB2 | c.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=) | |
21 | g.44893461T= | CA2391875893 | ITGB2 | c.1239A= (p.Gly413=) c.1167A= (p.Gly389=) c.996A= (p.Gly332=) n.567A= n.2736A= c.*994A= (n.*994A=) c.960A= (p.Gly320=) | |
21 | g.44893462C>A | CA410485821 | ITGB2 | c.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) | |
21 | g.44893462C= | CA2391875894 | ITGB2 | c.1238G= (p.Gly413=) c.1166G= (p.Gly389=) c.995G= (p.Gly332=) n.566G= n.2735G= c.*993G= (n.*993G=) c.959G= (p.Gly320=) | |
21 | g.44893462C>G | CA410485818 | ITGB2 | c.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) | |
21 | g.44893462C>T | CA410485819 | ITGB2 | c.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 |
21 | g.44893463C>A | CA410485822 | ITGB2 | c.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) | |
21 | g.44893463C= | CA2391875895 | ITGB2 | c.1237G= (p.Gly413=) c.1165G= (p.Gly389=) c.994G= (p.Gly332=) n.565G= n.2734G= c.*992G= (n.*992G=) c.958G= (p.Gly320=) | |
21 | g.44893463C>G | CA410485824 | ITGB2 | c.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) | |
21 | g.44893463C>T | CA10062912 | ITGB2 | c.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 |
21 | g.44893464A>C | CA410485825 | ITGB2 | c.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) | |
21 | g.44893464A>G | CA512551543 | ITGB2 | c.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 |
21 | g.44893464A>T | CA410485827 | ITGB2 | c.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 |
21 | g.44893465T>A | CA410485829 | ITGB2 | c.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) | |
21 | g.44893465T>C | CA410485831 | ITGB2 | c.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 |
21 | g.44893465T>G | CA410485832 | ITGB2 | c.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) | |
21 | g.44893466T>A | CA410485834 | ITGB2 | c.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) | |
21 | g.44893466T>C | CA410485836 | ITGB2 | c.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) | |
21 | g.44893466T>G | CA410485837 | ITGB2 | c.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) | |
21 | g.44893467G>A | CA512551545 | ITGB2 | c.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 |
21 | g.44893467G>C | CA410485840 | ITGB2 | c.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) | |
21 | g.44893467G>T | CA410485839 | ITGB2 | c.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) | |
21 | g.44893468C>A | CA410485842 | ITGB2 | c.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 |
21 | g.44893468C= | CA2391875896 | ITGB2 | c.1232G= (p.Ser411=) c.1160G= (p.Ser387=) c.989G= (p.Ser330=) n.560G= n.2729G= c.*987G= (n.*987G=) c.953G= (p.Ser318=) | |
21 | g.44893468C>G | CA410485844 | ITGB2 | c.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) | |
21 | g.44893468C>T | CA410485846 | ITGB2 | c.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 |
21 | g.44893469T>A | CA410485848 | ITGB2 | c.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) | |
21 | g.44893469T>C | CA410485849 | ITGB2 | c.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) | |
21 | g.44893469T>G | CA410485851 | ITGB2 | c.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 |
21 | g.44893469T= | CA2391875897 | ITGB2 | c.1231A= (p.Ser411=) c.1159A= (p.Ser387=) c.988A= (p.Ser330=) n.559A= n.2728A= c.*986A= (n.*986A=) c.952A= (p.Ser318=) | |
21 | g.44893470G>A | CA512551546 | ITGB2 | c.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 |
21 | g.44893470G>C | CA410485854 | ITGB2 | c.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) | |
21 | g.44893470G>T | CA410485853 | ITGB2 | c.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) | |
21 | g.44893471C>A | CA410485856 | ITGB2 | c.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) | |
21 | g.44893471C>G | CA410485858 | ITGB2 | c.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) | |
21 | g.44893471C>T | CA410485860 | ITGB2 | c.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) | |
21 | g.44893472A>C | CA410485861 | ITGB2 | c.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) | |
21 | g.44893472A>G | CA410485862 | ITGB2 | c.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) | |
21 | g.44893472A>T | CA410485864 | ITGB2 | c.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) | |
21 | g.44893473G>A | CA10062913 | ITGB2 | c.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 |
21 | g.44893473G>C | CA410485868 | ITGB2 | c.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) | |
21 | g.44893473G= | CA2391875898 | ITGB2 | c.1227C= (p.Phe409=) c.1155C= (p.Phe385=) c.984C= (p.Phe328=) n.555C= n.2724C= c.*982C= (n.*982C=) c.948C= (p.Phe316=) | |
21 | g.44893473G>T | CA410485867 | ITGB2 | c.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) | |
21 | g.44893474A>C | CA410485870 | ITGB2 | c.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) | |
21 | g.44893474A>G | CA410485872 | ITGB2 | c.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) | |
21 | g.44893474A>T | CA410485874 | ITGB2 | c.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) | |
21 | g.44893475A>C | CA410485876 | ITGB2 | c.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) | |
21 | g.44893475A>G | CA410485877 | ITGB2 | c.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) | |
21 | g.44893475A>T | CA410485879 | ITGB2 | c.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) | |
21 | g.44893476G>A | CA512551548 | ITGB2 | c.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 |
21 | g.44893476G>C | CA512551550 | ITGB2 | c.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=) | |
21 | g.44893476G>T | CA512551549 | ITGB2 | c.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=) | |
21 | g.44893477G>A | CA410485880 | ITGB2 | c.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) | |
21 | g.44893477G>C | CA410485881 | ITGB2 | c.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) | |
21 | g.44893477G>T | CA410485882 | ITGB2 | c.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 |
21 | g.44893478A>C | CA410485884 | ITGB2 | c.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) | |
21 | g.44893478A>G | CA410485886 | ITGB2 | c.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) | |
21 | g.44893478A>T | CA410485887 | ITGB2 | c.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) | |
21 | g.44893479G>A | CA512551552 | ITGB2 | c.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=) | |
21 | g.44893479G>C | CA410485891 | ITGB2 | c.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) | |
21 | g.44893479G>T | CA410485889 | ITGB2 | c.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) | |
21 | g.44893480T>A | CA410485892 | ITGB2 | c.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 |
21 | g.44893480T>C | CA410485894 | ITGB2 | c.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) | |
21 | g.44893480T>G | CA410485893 | ITGB2 | c.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) | |
21 | g.44893481C>A | CA10062914 | ITGB2 | c.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 |
21 | g.44893481C= | CA2391875899 | ITGB2 | c.1219G= (p.Asp407=) c.1147G= (p.Asp383=) c.976G= (p.Asp326=) n.547G= n.2716G= c.*974G= (n.*974G=) c.940G= (p.Asp314=) | |
21 | g.44893481C>G | CA410485897 | ITGB2 | c.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) | |
21 | g.44893481C>T | CA10062915 | ITGB2 | c.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 |
21 | g.44893482G>A | CA10062916 | ITGB2 | c.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 |
21 | g.44893482G>C | CA410485899 | ITGB2 | c.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) | |
21 | g.44893482G= | CA2391875900 | ITGB2 | c.1218C= (p.Tyr406=) c.1146C= (p.Tyr382=) c.975C= (p.Tyr325=) n.546C= n.2715C= c.*973C= (n.*973C=) c.939C= (p.Tyr313=) | |
21 | g.44893482G>T | CA321897588 | ITGB2 | c.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 |
21 | g.44893483T>A | CA410485902 | ITGB2 | c.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) | |
21 | g.44893483T>C | CA410485903 | ITGB2 | c.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 |
21 | g.44893483T>G | CA410485904 | ITGB2 | c.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) | |
21 | g.44893483T= | CA2391875901 | ITGB2 | c.1217A= (p.Tyr406=) c.1145A= (p.Tyr382=) c.974A= (p.Tyr325=) n.545A= n.2714A= c.*972A= (n.*972A=) c.938A= (p.Tyr313=) | |
21 | g.44893484A= | CA2391875903 | ITGB2 | c.1216T= (p.Tyr406=) c.1144T= (p.Tyr382=) c.973T= (p.Tyr325=) n.544T= n.2713T= c.*971T= (n.*971T=) c.937T= (p.Tyr313=) | |
21 | g.44893484A>C | CA410485906 | ITGB2 | c.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) | |
21 | g.44893484A>G | CA10062917 | ITGB2 | c.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 |
21 | g.44893484A>T | CA410485908 | ITGB2 | c.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) | |
21 | g.44893484_44893485delinsAG | CA2391875902 | ITGB2 | c.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=) | |
21 | g.44893485G>A | CA512551553 | ITGB2 | c.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 |
21 | g.44893485G>C | CA512551554 | ITGB2 | c.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=) | |
21 | g.44893485G= | CA2391875904 | ITGB2 | c.1215C= (p.Thr405=) c.1143C= (p.Thr381=) c.972C= (p.Thr324=) n.543C= n.2712C= c.*970C= (n.*970C=) c.936C= (p.Thr312=) | |
21 | g.44893485G>T | CA512551555 | ITGB2 | c.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 |
21 | g.44893486del | CA249759 | ITGB2 | c.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 |
21 | g.44893486G>A | CA410485910 | ITGB2 | c.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 |
21 | g.44893486G>C | CA410485912 | ITGB2 | c.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) | |
21 | g.44893486G= | CA2391875905 | ITGB2 | c.1214C= (p.Thr405=) c.1142C= (p.Thr381=) c.971C= (p.Thr324=) n.542C= n.2711C= c.*969C= (n.*969C=) c.935C= (p.Thr312=) | |
21 | g.44893486G>T | CA410485914 | ITGB2 | c.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) | |
21 | g.44893487T>A | CA410485915 | ITGB2 | c.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) | |
21 | g.44893487T>C | CA410485917 | ITGB2 | c.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 |
21 | g.44893487T>G | CA410485919 | ITGB2 | c.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) | |
21 | g.44893488G>A | CA512551557 | ITGB2 | c.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=) | |
21 | g.44893488G>C | CA512551558 | ITGB2 | c.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=) | |
21 | g.44893488G>T | CA512551556 | ITGB2 | c.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=) | |
21 | g.44893489A>C | CA410485921 | ITGB2 | c.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) | |
21 | g.44893489A>G | CA410485923 | ITGB2 | c.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) | |
21 | g.44893489A>T | CA410485925 | ITGB2 | c.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) | |
21 | g.44893490C>A | CA410485926 | ITGB2 | c.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) | |
21 | g.44893490C= | CA2391875906 | ITGB2 | c.1210G= (p.Val404=) c.1138G= (p.Val380=) c.967G= (p.Val323=) n.538G= n.2707G= c.*965G= (n.*965G=) c.931G= (p.Val311=) | |
21 | g.44893490C>G | CA410485928 | ITGB2 | c.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 |
21 | g.44893490C>T | CA410485929 | ITGB2 | c.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 |
21 | g.44893491T>A | CA410485932 | ITGB2 | c.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) | |
21 | g.44893491T>C | CA512551559 | ITGB2 | c.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=) | |
21 | g.44893491T>G | CA410485933 | ITGB2 | c.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) | |
21 | g.44893493del | CA2654867068 | ITGB2 | c.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 |
21 | g.44893492T>A | CA410485939 | ITGB2 | c.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) | |
21 | g.44893492T>C | CA410485935 | ITGB2 | c.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) | |
21 | g.44893492T>G | CA410485937 | ITGB2 | c.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) | |
21 | g.44893493T>A | CA410485940 | ITGB2 | c.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) | |
21 | g.44893493T>C | CA410485941 | ITGB2 | c.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) | |
21 | g.44893493T>G | CA410485943 | ITGB2 | c.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) | |
21 | g.44893494C>A | CA512551560 | ITGB2 | c.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=) | |
21 | g.44893494C>G | CA512551561 | ITGB2 | c.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=) | |
21 | g.44893494C>T | CA512551562 | ITGB2 | c.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=) | |
21 | g.44893495A>C | CA410485944 | ITGB2 | c.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) | |
21 | g.44893495A>G | CA410485946 | ITGB2 | c.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) | |
21 | g.44893495A>T | CA410485947 | ITGB2 | c.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) | |
21 | g.44893496G>A | CA512551563 | ITGB2 | c.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=) | |
21 | g.44893496G>C | CA410485949 | ITGB2 | c.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) | |
21 | g.44893496G>T | CA410485951 | ITGB2 | c.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) | |
21 | g.44893497G>A | CA512551565 | ITGB2 | c.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 |
21 | g.44893497G>C | CA10062918 | ITGB2 | c.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 |
21 | g.44893497G= | CA2391875907 | ITGB2 | c.1203C= (p.Thr401=) c.1131C= (p.Thr377=) c.960C= (p.Thr320=) n.531C= n.2700C= c.*958C= (n.*958C=) c.924C= (p.Thr308=) | |
21 | g.44893497G>T | CA512551564 | ITGB2 | c.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=) | |
21 | g.44893497_44893498delinsAA | CA2580098945 | ITGB2 | c.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 |
21 | g.44893498G>A | CA410485952 | ITGB2 | c.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 |
21 | g.44893498G>C | CA410485954 | ITGB2 | c.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) | |
21 | g.44893498G= | CA2391875908 | ITGB2 | c.1202C= (p.Thr401=) c.1130C= (p.Thr377=) c.959C= (p.Thr320=) n.530C= n.2699C= c.*957C= (n.*957C=) c.923C= (p.Thr308=) | |
21 | g.44893498G>T | CA410485956 | ITGB2 | c.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 |
21 | g.44893499T>A | CA410485960 | ITGB2 | c.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) | |
21 | g.44893499T>C | CA410485959 | ITGB2 | c.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) | |
21 | g.44893499T>G | CA410485958 | ITGB2 | c.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) | |
21 | g.44893500G>A | CA512551567 | ITGB2 | c.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=) | |
21 | g.44893500G>C | CA410485962 | ITGB2 | c.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) | |
21 | g.44893500G>T | CA410485963 | ITGB2 | c.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) | |
21 | g.44893501T>A | CA410485966 | ITGB2 | c.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) | |
21 | g.44893501T>C | CA410485967 | ITGB2 | c.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) | |
21 | g.44893501T>G | CA410485969 | ITGB2 | c.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) | |
21 | g.44893502C>A | CA410485971 | ITGB2 | c.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 |
21 | g.44893502C= | CA2391875909 | ITGB2 | c.1198G= (p.Asp400=) c.1126G= (p.Asp376=) c.955G= (p.Asp319=) n.526G= n.2695G= c.*953G= (n.*953G=) c.919G= (p.Asp307=) | |
21 | g.44893502C>G | CA410485972 | ITGB2 | c.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 |
21 | g.44893502C>T | CA10062919 | ITGB2 | c.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 |
21 | g.44893503G>A | CA10062921 | ITGB2 | c.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 |
21 | g.44893503G>C | CA10062920 | ITGB2 | c.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 |
21 | g.44893503G= | CA2391875910 | ITGB2 | c.1197C= (p.Pro399=) c.1125C= (p.Pro375=) c.954C= (p.Pro318=) n.525C= n.2694C= c.*952C= (n.*952C=) c.918C= (p.Pro306=) | |
21 | g.44893503G>T | CA512551568 | ITGB2 | c.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=) | |
21 | g.44893504G>A | CA410485977 | ITGB2 | c.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 |
21 | g.44893504G>C | CA410485978 | ITGB2 | c.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) | |
21 | g.44893504G>T | CA410485980 | ITGB2 | c.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) | |
21 | g.44893504_44893505insT | CA2654867081 | ITGB2 | c.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 |
21 | g.44893505G>A | CA410485984 | ITGB2 | c.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) | |
21 | g.44893505G>C | CA410485986 | ITGB2 | c.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) | |
21 | g.44893505G>T | CA410485982 | ITGB2 | c.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) | |
21 | g.44893506G>A | CA321897618 | ITGB2 | c.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 |
21 | g.44893506G>C | CA512551569 | ITGB2 | c.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 |
21 | g.44893506G= | CA2391875911 | ITGB2 | c.1194C= (p.Leu398=) c.1122C= (p.Leu374=) c.951C= (p.Leu317=) n.522C= n.2691C= c.*949C= (n.*949C=) c.915C= (p.Leu305=) | |
21 | g.44893506G>T | CA512551570 | ITGB2 | c.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=) | |
21 | g.44893507A>C | CA410485987 | ITGB2 | c.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) | |
21 | g.44893507A>G | CA410485990 | ITGB2 | c.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) | |
21 | g.44893507A>T | CA410485988 | ITGB2 | c.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) | |
21 | g.44893508G>A | CA410485992 | ITGB2 | c.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) | |
21 | g.44893508G>C | CA410485994 | ITGB2 | c.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) | |
21 | g.44893508G>T | CA410485996 | ITGB2 | c.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) | |
21 | g.44893508_44893509insT | CA2654867087 | ITGB2 | c.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 |
21 | g.44893509G>A | CA512551571 | ITGB2 | c.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=) | |
21 | g.44893509G>C | CA512551573 | ITGB2 | c.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=) | |
21 | g.44893509G>T | CA512551572 | ITGB2 | c.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 |
21 | g.44893510G>A | CA410485998 | ITGB2 | c.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) | |
21 | g.44893510G>C | CA410486000 | ITGB2 | c.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) | |
21 | g.44893510G>T | CA410486002 | ITGB2 | c.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) | |
21 | g.44893511C>A | CA410486005 | ITGB2 | c.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) | |
21 | g.44893511C= | CA2391875912 | ITGB2 | c.1189G= (p.Ala397=) c.1117G= (p.Ala373=) c.946G= (p.Ala316=) n.517G= n.2686G= c.*944G= (n.*944G=) c.910G= (p.Ala304=) | |
21 | g.44893511C>G | CA410486004 | ITGB2 | c.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 |
21 | g.44893511C>T | CA10062922 | ITGB2 | c.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 |
21 | g.44893512G>A | CA10062923 | ITGB2 | c.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 |
21 | g.44893512G>C | CA410486007 | ITGB2 | c.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 |
21 | g.44893512G= | CA2391875913 | ITGB2 | c.1188C= (p.Asn396=) c.1116C= (p.Asn372=) c.945C= (p.Asn315=) n.516C= n.2685C= c.*943C= (n.*943C=) c.909C= (p.Asn303=) | |
21 | g.44893512G>T | CA410486010 | ITGB2 | c.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) | |
21 | g.44893513T>A | CA410486012 | ITGB2 | c.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 |
21 | g.44893513T>C | CA410486013 | ITGB2 | c.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) | |
21 | g.44893513T>G | CA410486014 | ITGB2 | c.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) | |
21 | g.44893513T= | CA2391875914 | ITGB2 | c.1187A= (p.Asn396=) c.1115A= (p.Asn372=) c.944A= (p.Asn315=) n.515A= n.2684A= c.*942A= (n.*942A=) c.908A= (p.Asn303=) | |
21 | g.44893514T>A | CA410486016 | ITGB2 | c.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) | |
21 | g.44893514T>C | CA410486019 | ITGB2 | c.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) | |
21 | g.44893514T>G | CA410486018 | ITGB2 | c.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) | |
21 | g.44893514_44893526del | CA2654867095 | ITGB2 | c.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 |
21 | g.44893515G>A | CA512551575 | ITGB2 | c.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=) | |
21 | g.44893515G>C | CA410486021 | ITGB2 | c.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) | |
21 | g.44893515G>T | CA410486022 | ITGB2 | c.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) | |
21 | g.44893516T>A | CA410486024 | ITGB2 | c.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 |
21 | g.44893516T>C | CA410486026 | ITGB2 | c.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) | |
21 | g.44893516T>G | CA410486028 | ITGB2 | c.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) | |
21 | g.44893516T= | CA2391875915 | ITGB2 | c.1184A= (p.His395=) c.1112A= (p.His371=) c.941A= (p.His314=) n.512A= n.2681A= c.*939A= (n.*939A=) c.905A= (p.His302=) | |
21 | g.44893517G>A | CA410486030 | ITGB2 | c.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 |
21 | g.44893517G>C | CA410486032 | ITGB2 | c.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) | |
21 | g.44893517G>T | CA410486033 | ITGB2 | c.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) | |
21 | g.44893518A= | CA2391875916 | ITGB2 | c.1182T= (p.Asp394=) c.1110T= (p.Asp370=) c.939T= (p.Asp313=) n.510T= n.2679T= c.*937T= (n.*937T=) c.903T= (p.Asp301=) | |
21 | g.44893518A>C | CA410486035 | ITGB2 | c.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) | |
21 | g.44893518A>G | CA321897648 | ITGB2 | c.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 |
21 | g.44893518A>T | CA410486038 | ITGB2 | c.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) | |
21 | g.44893519T>A | CA410486039 | ITGB2 | c.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) | |
21 | g.44893519T>C | CA410486043 | ITGB2 | c.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) | |
21 | g.44893519T>G | CA410486040 | ITGB2 | c.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) | |
21 | g.44893520C>A | CA410486044 | ITGB2 | c.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) | |
21 | g.44893520C= | CA2391875917 | ITGB2 | c.1180G= (p.Asp394=) c.1108G= (p.Asp370=) c.937G= (p.Asp313=) n.508G= n.2677G= c.*935G= (n.*935G=) c.901G= (p.Asp301=) | |
21 | g.44893520C>G | CA410486046 | ITGB2 | c.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 |
21 | g.44893520C>T | CA321897659 | ITGB2 | c.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 |
21 | g.44893521C>A | CA512551576 | ITGB2 | c.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=) | |
21 | g.44893521C>G | CA512551577 | ITGB2 | c.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=) | |
21 | g.44893521C>T | CA512551578 | ITGB2 | c.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=) | |
21 | g.44893522A>C | CA410486048 | ITGB2 | c.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) | |
21 | g.44893522A>G | CA410486049 | ITGB2 | c.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) | |
21 | g.44893522A>T | CA410486051 | ITGB2 | c.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) | |
21 | g.44893523G>A | CA512551579 | ITGB2 | c.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=) | |
21 | g.44893523G>C | CA410486052 | ITGB2 | c.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) | |
21 | g.44893523G>T | CA410486053 | ITGB2 | c.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 |
21 | g.44893524G>A | CA512551580 | ITGB2 | c.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 |
21 | g.44893524G>C | CA410486054 | ITGB2 | c.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) | |
21 | g.44893524G= | CA2391875918 | ITGB2 | c.1176C= (p.Phe392=) c.1104C= (p.Phe368=) c.933C= (p.Phe311=) n.504C= n.2673C= c.*931C= (n.*931C=) c.897C= (p.Phe299=) | |
21 | g.44893524G>T | CA410486055 | ITGB2 | c.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) | |
21 | g.44893525A>C | CA410486056 | ITGB2 | c.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) | |
21 | g.44893525A>G | CA410486057 | ITGB2 | c.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) | |
21 | g.44893525A>T | CA410486058 | ITGB2 | c.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) | |
21 | g.44893526A>C | CA410486061 | ITGB2 | c.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) | |
21 | g.44893526A>G | CA410486063 | ITGB2 | c.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) | |
21 | g.44893526A>T | CA410486062 | ITGB2 | c.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) | |
21 | g.44893527G>A | CA512551581 | ITGB2 | c.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=) | |
21 | g.44893527G>C | CA512551582 | ITGB2 | c.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=) | |
21 | g.44893527G= | CA2391875919 | ITGB2 | c.1173C= (p.Val391=) c.1101C= (p.Val367=) c.930C= (p.Val310=) n.501C= n.2670C= c.*928C= (n.*928C=) c.894C= (p.Val298=) | |
21 | g.44893527G>T | CA249756 | ITGB2 | c.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 |
21 | g.44893528A>C | CA410486065 | ITGB2 | c.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) | |
21 | g.44893528A>G | CA410486066 | ITGB2 | c.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) | |
21 | g.44893528A>T | CA410486067 | ITGB2 | c.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) | |
21 | g.44893529C>A | CA410486068 | ITGB2 | c.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) | |
21 | g.44893529C>G | CA410486069 | ITGB2 | c.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) | |
21 | g.44893529C>T | CA410486071 | ITGB2 | c.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 |
21 | g.44893531del | CA2695230450 | ITGB2 | c.1171del (p.Val391SerfsTer12) c.1099del (p.Val367SerfsTer12) c.928del (p.Val310SerfsTer12) n.499del n.2668del c.*926del (n.*926del) c.892del (p.Val298SerfsTer12) | |
21 | g.44893530C>A | CA410486072 | ITGB2 | c.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) | |
21 | g.44893530C>G | CA410486073 | ITGB2 | c.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) | |
21 | g.44893530C>T | CA512551583 | ITGB2 | c.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=) | |
21 | g.44893531C>A | CA410486078 | ITGB2 | c.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) | |
21 | g.44893531C= | CA2391875920 | ITGB2 | c.1169G= (p.Arg390=) c.1097G= (p.Arg366=) c.926G= (p.Arg309=) n.497G= n.2666G= c.*924G= (n.*924G=) c.890G= (p.Arg297=) | |
21 | g.44893531C>G | CA410486077 | ITGB2 | c.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 |
21 | g.44893531C>T | CA410486075 | ITGB2 | c.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) | |
21 | g.44893532T>A | CA410486079 | ITGB2 | c.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) | |
21 | g.44893532T>C | CA410486080 | ITGB2 | c.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 |
21 | g.44893532T>G | CA512551584 | ITGB2 | c.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=) | |
21 | g.44893532_44893534del | CA2654867100 | ITGB2 | c.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 |
21 | g.44893533G>A | CA512551587 | ITGB2 | c.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 |
21 | g.44893533G>C | CA512551585 | ITGB2 | c.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=) | |
21 | g.44893533G= | CA2391875921 | ITGB2 | c.1167C= (p.Ser389=) c.1095C= (p.Ser365=) c.924C= (p.Ser308=) n.495C= n.2664C= c.*922C= (n.*922C=) c.888C= (p.Ser296=) | |
21 | g.44893533G>T | CA512551586 | ITGB2 | c.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=) | |
21 | g.44893534del | CA2537866108 | ITGB2 | c.1167del (p.Arg390GlyfsTer13) c.1095del (p.Arg366GlyfsTer13) c.924del (p.Arg309GlyfsTer13) n.495del n.2664del c.*922del (n.*922del) c.888del (p.Arg297GlyfsTer13) | |
21 | g.44893534G>A | CA410486081 | ITGB2 | c.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 |
21 | g.44893534G>C | CA410486082 | ITGB2 | c.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) | |
21 | g.44893534G= | CA2391875922 | ITGB2 | c.1166C= (p.Ser389=) c.1094C= (p.Ser365=) c.923C= (p.Ser308=) n.494C= n.2663C= c.*921C= (n.*921C=) c.887C= (p.Ser296=) | |
21 | g.44893534G>T | CA410486084 | ITGB2 | c.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) | |
21 | g.44893535A>C | CA410486085 | ITGB2 | c.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) | |
21 | g.44893535A>G | CA410486087 | ITGB2 | c.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) | |
21 | g.44893535A>T | CA410486089 | ITGB2 | c.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) | |
21 | g.44893536G>A | CA512551588 | ITGB2 | c.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 |
21 | g.44893536G>C | CA512551589 | ITGB2 | c.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=) | |
21 | g.44893536G>T | CA512551590 | ITGB2 | c.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=) | |
21 | g.44893537G>A | CA410486090 | ITGB2 | c.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) | |
21 | g.44893537G>C | CA410486092 | ITGB2 | c.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) | |
21 | g.44893537G>T | CA410486094 | ITGB2 | c.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) | |
21 | g.44893538del | CA2654867103 | ITGB2 | c.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 |
21 | g.44893538A>C | CA410486096 | ITGB2 | c.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) | |
21 | g.44893538A>G | CA410486098 | ITGB2 | c.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) | |
21 | g.44893538A>T | CA410486099 | ITGB2 | c.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) | |
21 | g.44893539G>A | CA512551591 | ITGB2 | c.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=) | |
21 | g.44893539G>C | CA512551592 | ITGB2 | c.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=) | |
21 | g.44893539G>T | CA512551593 | ITGB2 | c.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=) | |
21 | g.44893540A>C | CA410486107 | ITGB2 | c.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) | |
21 | g.44893540A>G | CA410486105 | ITGB2 | c.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) | |
21 | g.44893540A>T | CA410486106 | ITGB2 | c.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) | |
21 | g.44893541del | CA2654867105 | ITGB2 | c.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 |
21 | g.44893541G>A | CA410486109 | ITGB2 | c.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) | |
21 | g.44893541G>C | CA410486110 | ITGB2 | c.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) | |
21 | g.44893541G>T | CA410486112 | ITGB2 | c.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) | |
21 | g.44893542T>A | CA410486115 | ITGB2 | c.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) | |
21 | g.44893542T>C | CA512551594 | ITGB2 | c.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 |
21 | g.44893542T>G | CA410486116 | ITGB2 | c.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 |
21 | g.44893543T>A | CA410486117 | ITGB2 | c.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) | |
21 | g.44893543T>C | CA410486118 | ITGB2 | c.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) | |
21 | g.44893543T>G | CA410486119 | ITGB2 | c.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) | |
21 | g.44893544T>A | CA410486121 | ITGB2 | c.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) | |
21 | g.44893544T>C | CA410486123 | ITGB2 | c.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) | |
21 | g.44893544T>G | CA410486125 | ITGB2 | c.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) | |
21 | g.44893545C>A | CA321897673 | ITGB2 | c.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 |
21 | g.44893545C= | CA2391875923 | ITGB2 | c.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=) | |
21 | g.44893545C>G | CA410486130 | ITGB2 | c.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) | |
21 | g.44893545C>T | CA410486127 | ITGB2 | c.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) | |
21 | g.44893545_44893548del | CA2654867106 | ITGB2 | c.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 |
21 | g.44893546T>A | CA410486131 | ITGB2 | c.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) | |
21 | g.44893546T>C | CA410486133 | ITGB2 | c.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) | |
21 | g.44893546T>G | CA410486135 | ITGB2 | c.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) | |
21 | g.44893547G>A | CA2654867107 | ITGB2 | c.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 |
21 | g.44893548C>A | CA10062925 | ITGB2 | c.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 |
21 | g.44893548C= | CA2391875924 | ITGB2 | c.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=) | |
21 | g.44893548C>G | CA512551595 | ITGB2 | c.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 |
21 | g.44893548C>T | CA10062924 | ITGB2 | c.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 |
21 | g.44893549G>A | CA10062926 | ITGB2 | c.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 |
21 | g.44893549G>C | CA638153660 | ITGB2 | c.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 |
21 | g.44893549G= | CA2391875925 | ITGB2 | c.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=) |