UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.44893285_44893388del | CA2654866808 | ITGB2 | c.1296+33_1296+136del (n.1296+33_1296+136del) c.1224+33_1224+136del (n.1224+33_1224+136del) c.1053+33_1053+136del (n.1053+33_1053+136del) n.624+33_624+136del n.2826_2929del c.*1051+33_*1051+136del (n.*1051+33_*1051+136del) c.1017+33_1017+136del (n.1017+33_1017+136del) | gnomAD v4 |
| 21 | g.44893337_44893388dup | CA2534255107 | ITGB2 | c.1296+33_1296+84dup (n.1296+33_1296+84dup) c.1224+33_1224+84dup (n.1224+33_1224+84dup) c.1053+33_1053+84dup (n.1053+33_1053+84dup) n.624+33_624+84dup n.2826_2877dup c.*1051+33_*1051+84dup (n.*1051+33_*1051+84dup) c.1017+33_1017+84dup (n.1017+33_1017+84dup) | gnomAD v4 |
| 21 | g.44893337_44893388del | CA2654866866 | ITGB2 | c.1296+33_1296+84del (n.1296+33_1296+84del) c.1224+33_1224+84del (n.1224+33_1224+84del) c.1053+33_1053+84del (n.1053+33_1053+84del) n.624+33_624+84del n.2826_2877del c.*1051+33_*1051+84del (n.*1051+33_*1051+84del) c.1017+33_1017+84del (n.1017+33_1017+84del) | gnomAD v4 |
| 21 | g.44893350_44893394del | CA2654866894 | ITGB2 | c.1296+14_1296+58del (n.1296+14_1296+58del) c.1224+14_1224+58del (n.1224+14_1224+58del) c.1053+14_1053+58del (n.1053+14_1053+58del) n.624+14_624+58del n.2807_2851del c.*1051+14_*1051+58del (n.*1051+14_*1051+58del) c.1017+14_1017+58del (n.1017+14_1017+58del) | gnomAD v4 |
| 21 | g.44893386C>A | CA10062888 | ITGB2 | c.1296+18G>T (n.1296+18G>T) c.1224+18G>T (n.1224+18G>T) c.1053+18G>T (n.1053+18G>T) n.624+18G>T n.2811G>T c.*1051+18G>T (n.*1051+18G>T) c.1017+18G>T (n.1017+18G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44893386C= | CA2391875853 | ITGB2 | c.1296+18G= (n.1296+18G=) c.1224+18G= (n.1224+18G=) c.1053+18G= (n.1053+18G=) n.624+18G= n.2811G= c.*1051+18G= (n.*1051+18G=) c.1017+18G= (n.1017+18G=) | |
| 21 | g.44893388T>C | CA638153495 | ITGB2 | c.1296+16A>G (n.1296+16A>G) c.1224+16A>G (n.1224+16A>G) c.1053+16A>G (n.1053+16A>G) n.624+16A>G n.2809A>G c.*1051+16A>G (n.*1051+16A>G) c.1017+16A>G (n.1017+16A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44893388T>G | CA2654866925 | ITGB2 | c.1296+16A>C (n.1296+16A>C) c.1224+16A>C (n.1224+16A>C) c.1053+16A>C (n.1053+16A>C) n.624+16A>C n.2809A>C c.*1051+16A>C (n.*1051+16A>C) c.1017+16A>C (n.1017+16A>C) | gnomAD v4 |
| 21 | g.44893388T= | CA2391875854 | ITGB2 | c.1296+16A= (n.1296+16A=) c.1224+16A= (n.1224+16A=) c.1053+16A= (n.1053+16A=) n.624+16A= n.2809A= c.*1051+16A= (n.*1051+16A=) c.1017+16A= (n.1017+16A=) | |
| 21 | g.44893389T>G | CA2391875856 | ITGB2 | c.1296+15A>C (n.1296+15A>C) c.1224+15A>C (n.1224+15A>C) c.1053+15A>C (n.1053+15A>C) n.624+15A>C n.2808A>C c.*1051+15A>C (n.*1051+15A>C) c.1017+15A>C (n.1017+15A>C) | dbSNP |
| 21 | g.44893389T= | CA2391875855 | ITGB2 | c.1296+15A= (n.1296+15A=) c.1224+15A= (n.1224+15A=) c.1053+15A= (n.1053+15A=) n.624+15A= n.2808A= c.*1051+15A= (n.*1051+15A=) c.1017+15A= (n.1017+15A=) | |
| 21 | g.44893390G>A | CA2654866928 | ITGB2 | c.1296+14C>T (n.1296+14C>T) c.1224+14C>T (n.1224+14C>T) c.1053+14C>T (n.1053+14C>T) n.624+14C>T n.2807C>T c.*1051+14C>T (n.*1051+14C>T) c.1017+14C>T (n.1017+14C>T) | gnomAD v4 |
| 21 | g.44893390G>C | CA321897387 | ITGB2 | c.1296+14C>G (n.1296+14C>G) c.1224+14C>G (n.1224+14C>G) c.1053+14C>G (n.1053+14C>G) n.624+14C>G n.2807C>G c.*1051+14C>G (n.*1051+14C>G) c.1017+14C>G (n.1017+14C>G) | dbSNP gnomAD v4 |
| 21 | g.44893390G= | CA2391875857 | ITGB2 | c.1296+14C= (n.1296+14C=) c.1224+14C= (n.1224+14C=) c.1053+14C= (n.1053+14C=) n.624+14C= n.2807C= c.*1051+14C= (n.*1051+14C=) c.1017+14C= (n.1017+14C=) | |
| 21 | g.44893390G>T | CA638153496 | ITGB2 | c.1296+14C>A (n.1296+14C>A) c.1224+14C>A (n.1224+14C>A) c.1053+14C>A (n.1053+14C>A) n.624+14C>A n.2807C>A c.*1051+14C>A (n.*1051+14C>A) c.1017+14C>A (n.1017+14C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44893391T>A | CA638153498 | ITGB2 | c.1296+13A>T (n.1296+13A>T) c.1224+13A>T (n.1224+13A>T) c.1053+13A>T (n.1053+13A>T) n.624+13A>T n.2806A>T c.*1051+13A>T (n.*1051+13A>T) c.1017+13A>T (n.1017+13A>T) | dbSNP gnomAD v2 |
| 21 | g.44893391T>C | CA321897388 | ITGB2 | c.1296+13A>G (n.1296+13A>G) c.1224+13A>G (n.1224+13A>G) c.1053+13A>G (n.1053+13A>G) n.624+13A>G n.2806A>G c.*1051+13A>G (n.*1051+13A>G) c.1017+13A>G (n.1017+13A>G) | dbSNP |
| 21 | g.44893391T= | CA2391875858 | ITGB2 | c.1296+13A= (n.1296+13A=) c.1224+13A= (n.1224+13A=) c.1053+13A= (n.1053+13A=) n.624+13A= n.2806A= c.*1051+13A= (n.*1051+13A=) c.1017+13A= (n.1017+13A=) | |
| 21 | g.44893392G>C | CA10062889 | ITGB2 | c.1296+12C>G (n.1296+12C>G) c.1224+12C>G (n.1224+12C>G) c.1053+12C>G (n.1053+12C>G) n.624+12C>G n.2805C>G c.*1051+12C>G (n.*1051+12C>G) c.1017+12C>G (n.1017+12C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44893392G= | CA2391875859 | ITGB2 | c.1296+12C= (n.1296+12C=) c.1224+12C= (n.1224+12C=) c.1053+12C= (n.1053+12C=) n.624+12C= n.2805C= c.*1051+12C= (n.*1051+12C=) c.1017+12C= (n.1017+12C=) | |
| 21 | g.44893392G>T | CA2577624336 | ITGB2 | c.1296+12C>A (n.1296+12C>A) c.1224+12C>A (n.1224+12C>A) c.1053+12C>A (n.1053+12C>A) n.624+12C>A n.2805C>A c.*1051+12C>A (n.*1051+12C>A) c.1017+12C>A (n.1017+12C>A) | |
| 21 | g.44893393G>A | CA2654866930 | ITGB2 | c.1296+11C>T (n.1296+11C>T) c.1224+11C>T (n.1224+11C>T) c.1053+11C>T (n.1053+11C>T) n.624+11C>T n.2804C>T c.*1051+11C>T (n.*1051+11C>T) c.1017+11C>T (n.1017+11C>T) | gnomAD v4 |
| 21 | g.44893394C>A | CA10062890 | ITGB2 | c.1296+10G>T (n.1296+10G>T) c.1224+10G>T (n.1224+10G>T) c.1053+10G>T (n.1053+10G>T) n.624+10G>T n.2803G>T c.*1051+10G>T (n.*1051+10G>T) c.1017+10G>T (n.1017+10G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44893394C= | CA2391875860 | ITGB2 | c.1296+10G= (n.1296+10G=) c.1224+10G= (n.1224+10G=) c.1053+10G= (n.1053+10G=) n.624+10G= n.2803G= c.*1051+10G= (n.*1051+10G=) c.1017+10G= (n.1017+10G=) | |
| 21 | g.44893394C>T | CA2577624337 | ITGB2 | c.1296+10G>A (n.1296+10G>A) c.1224+10G>A (n.1224+10G>A) c.1053+10G>A (n.1053+10G>A) n.624+10G>A n.2803G>A c.*1051+10G>A (n.*1051+10G>A) c.1017+10G>A (n.1017+10G>A) | gnomAD v4 |
| 21 | g.44893396A= | CA2391875861 | ITGB2 | c.1296+8T= (n.1296+8T=) c.1224+8T= (n.1224+8T=) c.1053+8T= (n.1053+8T=) n.624+8T= n.2801T= c.*1051+8T= (n.*1051+8T=) c.1017+8T= (n.1017+8T=) | |
| 21 | g.44893396A>G | CA638153499 | ITGB2 | c.1296+8T>C (n.1296+8T>C) c.1224+8T>C (n.1224+8T>C) c.1053+8T>C (n.1053+8T>C) n.624+8T>C n.2801T>C c.*1051+8T>C (n.*1051+8T>C) c.1017+8T>C (n.1017+8T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44893397G>C | CA2654866942 | ITGB2 | c.1296+7C>G (n.1296+7C>G) c.1224+7C>G (n.1224+7C>G) c.1053+7C>G (n.1053+7C>G) n.624+7C>G n.2800C>G c.*1051+7C>G (n.*1051+7C>G) c.1017+7C>G (n.1017+7C>G) | gnomAD v4 |
| 21 | g.44893398G>A | CA2654866945 | ITGB2 | c.1296+6C>T (n.1296+6C>T) c.1224+6C>T (n.1224+6C>T) c.1053+6C>T (n.1053+6C>T) n.624+6C>T n.2799C>T c.*1051+6C>T (n.*1051+6C>T) c.1017+6C>T (n.1017+6C>T) | gnomAD v4 |
| 21 | g.44893398G>C | CA10062891 | ITGB2 | c.1296+6C>G (n.1296+6C>G) c.1224+6C>G (n.1224+6C>G) c.1053+6C>G (n.1053+6C>G) n.624+6C>G n.2799C>G c.*1051+6C>G (n.*1051+6C>G) c.1017+6C>G (n.1017+6C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44893398G= | CA2391875862 | ITGB2 | c.1296+6C= (n.1296+6C=) c.1224+6C= (n.1224+6C=) c.1053+6C= (n.1053+6C=) n.624+6C= n.2799C= c.*1051+6C= (n.*1051+6C=) c.1017+6C= (n.1017+6C=) | |
| 21 | g.44893399C>T | CA2499225984 | ITGB2 | c.1296+5G>A (n.1296+5G>A) c.1224+5G>A (n.1224+5G>A) c.1053+5G>A (n.1053+5G>A) n.624+5G>A n.2798G>A c.*1051+5G>A (n.*1051+5G>A) c.1017+5G>A (n.1017+5G>A) | ClinVar dbSNP |
| 21 | g.44893400T>C | CA10062892 | ITGB2 | c.1296+4A>G (n.1296+4A>G) c.1224+4A>G (n.1224+4A>G) c.1053+4A>G (n.1053+4A>G) n.624+4A>G n.2797A>G c.*1051+4A>G (n.*1051+4A>G) c.1017+4A>G (n.1017+4A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44893400T= | CA2391875863 | ITGB2 | c.1296+4A= (n.1296+4A=) c.1224+4A= (n.1224+4A=) c.1053+4A= (n.1053+4A=) n.624+4A= n.2797A= c.*1051+4A= (n.*1051+4A=) c.1017+4A= (n.1017+4A=) | |
| 21 | g.44893402A>C | CA410485594 | ITGB2 | c.1296+2T>G (n.1296+2T>G) c.1224+2T>G (n.1224+2T>G) c.1053+2T>G (n.1053+2T>G) n.624+2T>G n.2795T>G c.*1051+2T>G (n.*1051+2T>G) c.1017+2T>G (n.1017+2T>G) | |
| 21 | g.44893402A>G | CA410485595 | ITGB2 | c.1296+2T>C (n.1296+2T>C) c.1224+2T>C (n.1224+2T>C) c.1053+2T>C (n.1053+2T>C) n.624+2T>C n.2795T>C c.*1051+2T>C (n.*1051+2T>C) c.1017+2T>C (n.1017+2T>C) | |
| 21 | g.44893402A>T | CA410485597 | ITGB2 | c.1296+2T>A (n.1296+2T>A) c.1224+2T>A (n.1224+2T>A) c.1053+2T>A (n.1053+2T>A) n.624+2T>A n.2795T>A c.*1051+2T>A (n.*1051+2T>A) c.1017+2T>A (n.1017+2T>A) | |
| 21 | g.44893403C>A | CA410485599 | ITGB2 | c.1296+1G>T (n.1296+1G>T) c.1224+1G>T (n.1224+1G>T) c.1053+1G>T (n.1053+1G>T) n.624+1G>T n.2794G>T c.*1051+1G>T (n.*1051+1G>T) c.1017+1G>T (n.1017+1G>T) | |
| 21 | g.44893403C>G | CA410485602 | ITGB2 | c.1296+1G>C (n.1296+1G>C) c.1224+1G>C (n.1224+1G>C) c.1053+1G>C (n.1053+1G>C) n.624+1G>C n.2794G>C c.*1051+1G>C (n.*1051+1G>C) c.1017+1G>C (n.1017+1G>C) | |
| 21 | g.44893403C>T | CA410485601 | ITGB2 | c.1296+1G>A (n.1296+1G>A) c.1224+1G>A (n.1224+1G>A) c.1053+1G>A (n.1053+1G>A) n.624+1G>A n.2794G>A c.*1051+1G>A (n.*1051+1G>A) c.1017+1G>A (n.1017+1G>A) | |
| 21 | g.44893404C>A | CA512551488 | ITGB2 | c.1296G>T (p.Pro432=) c.1224G>T (p.Pro408=) c.1053G>T (p.Pro351=) n.624G>T n.2793G>T c.*1051G>T (n.*1051G>T) c.1017G>T (p.Pro339=) | |
| 21 | g.44893404C= | CA2391875864 | ITGB2 | c.1296G= (p.Pro432=) c.1224G= (p.Pro408=) c.1053G= (p.Pro351=) n.624G= n.2793G= c.*1051G= (n.*1051G=) c.1017G= (p.Pro339=) | |
| 21 | g.44893404C>G | CA10062894 | ITGB2 | c.1296G>C (p.Pro432=) c.1224G>C (p.Pro408=) c.1053G>C (p.Pro351=) n.624G>C n.2793G>C c.*1051G>C (n.*1051G>C) c.1017G>C (p.Pro339=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44893404C>T | CA10062893 | ITGB2 | c.1296G>A (p.Pro432=) c.1224G>A (p.Pro408=) c.1053G>A (p.Pro351=) n.624G>A n.2793G>A c.*1051G>A (n.*1051G>A) c.1017G>A (p.Pro339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44893405G>A | CA10062895 | ITGB2 | c.1295C>T (p.Pro432Leu) c.1223C>T (p.Pro408Leu) c.1052C>T (p.Pro351Leu) n.623C>T n.2792C>T c.*1050C>T (n.*1050C>T) c.1016C>T (p.Pro339Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.44893405G>C | CA410485608 | ITGB2 | c.1295C>G (p.Pro432Arg) c.1223C>G (p.Pro408Arg) c.1052C>G (p.Pro351Arg) n.623C>G n.2792C>G c.*1050C>G (n.*1050C>G) c.1016C>G (p.Pro339Arg) | |
| 21 | g.44893405G= | CA2391875865 | ITGB2 | c.1295C= (p.Pro432=) c.1223C= (p.Pro408=) c.1052C= (p.Pro351=) n.623C= n.2792C= c.*1050C= (n.*1050C=) c.1016C= (p.Pro339=) | |
| 21 | g.44893405G>T | CA410485606 | ITGB2 | c.1295C>A (p.Pro432Gln) c.1223C>A (p.Pro408Gln) c.1052C>A (p.Pro351Gln) n.623C>A n.2792C>A c.*1050C>A (n.*1050C>A) c.1016C>A (p.Pro339Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.44893406G>A | CA410485610 | ITGB2 | c.1294C>T (p.Pro432Ser) c.1222C>T (p.Pro408Ser) c.1051C>T (p.Pro351Ser) n.622C>T n.2791C>T c.*1049C>T (n.*1049C>T) c.1015C>T (p.Pro339Ser) | |
| 21 | g.44893406G>C | CA410485612 | ITGB2 | c.1294C>G (p.Pro432Ala) c.1222C>G (p.Pro408Ala) c.1051C>G (p.Pro351Ala) n.622C>G n.2791C>G c.*1049C>G (n.*1049C>G) c.1015C>G (p.Pro339Ala) | dbSNP |
| 21 | g.44893406G>T | CA410485614 | ITGB2 | c.1294C>A (p.Pro432Thr) c.1222C>A (p.Pro408Thr) c.1051C>A (p.Pro351Thr) n.622C>A n.2791C>A c.*1049C>A (n.*1049C>A) c.1015C>A (p.Pro339Thr) | |
| 21 | g.44893407G>A | CA10062896 | ITGB2 | c.1293C>T (p.Val431=) c.1221C>T (p.Val407=) c.1050C>T (p.Val350=) n.621C>T n.2790C>T c.*1048C>T (n.*1048C>T) c.1014C>T (p.Val338=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44893407G>C | CA512551490 | ITGB2 | c.1293C>G (p.Val431=) c.1221C>G (p.Val407=) c.1050C>G (p.Val350=) n.621C>G n.2790C>G c.*1048C>G (n.*1048C>G) c.1014C>G (p.Val338=) | |
| 21 | g.44893407G= | CA2391875866 | ITGB2 | c.1293C= (p.Val431=) c.1221C= (p.Val407=) c.1050C= (p.Val350=) n.621C= n.2790C= c.*1048C= (n.*1048C=) c.1014C= (p.Val338=) | |
| 21 | g.44893407G>T | CA512551491 | ITGB2 | c.1293C>A (p.Val431=) c.1221C>A (p.Val407=) c.1050C>A (p.Val350=) n.621C>A n.2790C>A c.*1048C>A (n.*1048C>A) c.1014C>A (p.Val338=) | |
| 21 | g.44893408A= | CA2391875867 | ITGB2 | c.1292T= (p.Val431=) c.1220T= (p.Val407=) c.1049T= (p.Val350=) n.620T= n.2789T= c.*1047T= (n.*1047T=) c.1013T= (p.Val338=) | |
| 21 | g.44893408A>C | CA410485616 | ITGB2 | c.1292T>G (p.Val431Gly) c.1220T>G (p.Val407Gly) c.1049T>G (p.Val350Gly) n.620T>G n.2789T>G c.*1047T>G (n.*1047T>G) c.1013T>G (p.Val338Gly) | |
| 21 | g.44893408A>G | CA410485618 | ITGB2 | c.1292T>C (p.Val431Ala) c.1220T>C (p.Val407Ala) c.1049T>C (p.Val350Ala) n.620T>C n.2789T>C c.*1047T>C (n.*1047T>C) c.1013T>C (p.Val338Ala) | |
| 21 | g.44893408A>T | CA321897446 | ITGB2 | c.1292T>A (p.Val431Asp) c.1220T>A (p.Val407Asp) c.1049T>A (p.Val350Asp) n.620T>A n.2789T>A c.*1047T>A (n.*1047T>A) c.1013T>A (p.Val338Asp) | dbSNP |
| 21 | g.44893409C>A | CA410485621 | ITGB2 | c.1291G>T (p.Val431Phe) c.1219G>T (p.Val407Phe) c.1048G>T (p.Val350Phe) n.619G>T n.2788G>T c.*1046G>T (n.*1046G>T) c.1012G>T (p.Val338Phe) | |
| 21 | g.44893409C= | CA2391875868 | ITGB2 | c.1291G= (p.Val431=) c.1219G= (p.Val407=) c.1048G= (p.Val350=) n.619G= n.2788G= c.*1046G= (n.*1046G=) c.1012G= (p.Val338=) | |
| 21 | g.44893409C>G | CA410485622 | ITGB2 | c.1291G>C (p.Val431Leu) c.1219G>C (p.Val407Leu) c.1048G>C (p.Val350Leu) n.619G>C n.2788G>C c.*1046G>C (n.*1046G>C) c.1012G>C (p.Val338Leu) | |
| 21 | g.44893409C>T | CA410485624 | ITGB2 | c.1291G>A (p.Val431Ile) c.1219G>A (p.Val407Ile) c.1048G>A (p.Val350Ile) n.619G>A n.2788G>A c.*1046G>A (n.*1046G>A) c.1012G>A (p.Val338Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44893410A= | CA2391875869 | ITGB2 | c.1290T= (p.Asn430=) c.1218T= (p.Asn406=) c.1047T= (p.Asn349=) n.618T= n.2787T= c.*1045T= (n.*1045T=) c.1011T= (p.Asn337=) | |
| 21 | g.44893410A>C | CA10062897 | ITGB2 | c.1290T>G (p.Asn430Lys) c.1218T>G (p.Asn406Lys) c.1047T>G (p.Asn349Lys) n.618T>G n.2787T>G c.*1045T>G (n.*1045T>G) c.1011T>G (p.Asn337Lys) | dbSNP ExAC gnomAD v4 |
| 21 | g.44893410A>G | CA512551494 | ITGB2 | c.1290T>C (p.Asn430=) c.1218T>C (p.Asn406=) c.1047T>C (p.Asn349=) n.618T>C n.2787T>C c.*1045T>C (n.*1045T>C) c.1011T>C (p.Asn337=) | gnomAD v4 |
| 21 | g.44893410A>T | CA410485626 | ITGB2 | c.1290T>A (p.Asn430Lys) c.1218T>A (p.Asn406Lys) c.1047T>A (p.Asn349Lys) n.618T>A n.2787T>A c.*1045T>A (n.*1045T>A) c.1011T>A (p.Asn337Lys) | gnomAD v4 |
| 21 | g.44893411T>A | CA410485632 | ITGB2 | c.1289A>T (p.Asn430Ile) c.1217A>T (p.Asn406Ile) c.1046A>T (p.Asn349Ile) n.617A>T n.2786A>T c.*1044A>T (n.*1044A>T) c.1010A>T (p.Asn337Ile) | |
| 21 | g.44893411T>C | CA410485629 | ITGB2 | c.1289A>G (p.Asn430Ser) c.1217A>G (p.Asn406Ser) c.1046A>G (p.Asn349Ser) n.617A>G n.2786A>G c.*1044A>G (n.*1044A>G) c.1010A>G (p.Asn337Ser) | |
| 21 | g.44893411T>G | CA410485630 | ITGB2 | c.1289A>C (p.Asn430Thr) c.1217A>C (p.Asn406Thr) c.1046A>C (p.Asn349Thr) n.617A>C n.2786A>C c.*1044A>C (n.*1044A>C) c.1010A>C (p.Asn337Thr) | |
| 21 | g.44893412T>A | CA410485634 | ITGB2 | c.1288A>T (p.Asn430Tyr) c.1216A>T (p.Asn406Tyr) c.1045A>T (p.Asn349Tyr) n.616A>T n.2785A>T c.*1043A>T (n.*1043A>T) c.1009A>T (p.Asn337Tyr) | |
| 21 | g.44893412T>C | CA410485635 | ITGB2 | c.1288A>G (p.Asn430Asp) c.1216A>G (p.Asn406Asp) c.1045A>G (p.Asn349Asp) n.616A>G n.2785A>G c.*1043A>G (n.*1043A>G) c.1009A>G (p.Asn337Asp) | |
| 21 | g.44893412T>G | CA410485637 | ITGB2 | c.1288A>C (p.Asn430His) c.1216A>C (p.Asn406His) c.1045A>C (p.Asn349His) n.616A>C n.2785A>C c.*1043A>C (n.*1043A>C) c.1009A>C (p.Asn337His) | |
| 21 | g.44893413G>A | CA512551495 | ITGB2 | c.1287C>T (p.Ile429=) c.1215C>T (p.Ile405=) c.1044C>T (p.Ile348=) n.615C>T n.2784C>T c.*1042C>T (n.*1042C>T) c.1008C>T (p.Ile336=) | dbSNP |
| 21 | g.44893413G>C | CA410485638 | ITGB2 | c.1287C>G (p.Ile429Met) c.1215C>G (p.Ile405Met) c.1044C>G (p.Ile348Met) n.615C>G n.2784C>G c.*1042C>G (n.*1042C>G) c.1008C>G (p.Ile336Met) | |
| 21 | g.44893413G= | CA2391875870 | ITGB2 | c.1287C= (p.Ile429=) c.1215C= (p.Ile405=) c.1044C= (p.Ile348=) n.615C= n.2784C= c.*1042C= (n.*1042C=) c.1008C= (p.Ile336=) | |
| 21 | g.44893413G>T | CA10062898 | ITGB2 | c.1287C>A (p.Ile429=) c.1215C>A (p.Ile405=) c.1044C>A (p.Ile348=) n.615C>A n.2784C>A c.*1042C>A (n.*1042C>A) c.1008C>A (p.Ile336=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44893414A>C | CA410485640 | ITGB2 | c.1286T>G (p.Ile429Ser) c.1214T>G (p.Ile405Ser) c.1043T>G (p.Ile348Ser) n.614T>G n.2783T>G c.*1041T>G (n.*1041T>G) c.1007T>G (p.Ile336Ser) | |
| 21 | g.44893414A>G | CA410485642 | ITGB2 | c.1286T>C (p.Ile429Thr) c.1214T>C (p.Ile405Thr) c.1043T>C (p.Ile348Thr) n.614T>C n.2783T>C c.*1041T>C (n.*1041T>C) c.1007T>C (p.Ile336Thr) | gnomAD v4 |
| 21 | g.44893414A>T | CA410485644 | ITGB2 | c.1286T>A (p.Ile429Asn) c.1214T>A (p.Ile405Asn) c.1043T>A (p.Ile348Asn) n.614T>A n.2783T>A c.*1041T>A (n.*1041T>A) c.1007T>A (p.Ile336Asn) | |
| 21 | g.44893415T>A | CA410485645 | ITGB2 | c.1285A>T (p.Ile429Phe) c.1213A>T (p.Ile405Phe) c.1042A>T (p.Ile348Phe) n.613A>T n.2782A>T c.*1040A>T (n.*1040A>T) c.1006A>T (p.Ile336Phe) | |
| 21 | g.44893415T>C | CA10062899 | ITGB2 | c.1285A>G (p.Ile429Val) c.1213A>G (p.Ile405Val) c.1042A>G (p.Ile348Val) n.613A>G n.2782A>G c.*1040A>G (n.*1040A>G) c.1006A>G (p.Ile336Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44893415T>G | CA410485648 | ITGB2 | c.1285A>C (p.Ile429Leu) c.1213A>C (p.Ile405Leu) c.1042A>C (p.Ile348Leu) n.613A>C n.2782A>C c.*1040A>C (n.*1040A>C) c.1006A>C (p.Ile336Leu) | |
| 21 | g.44893415T= | CA2391875871 | ITGB2 | c.1285A= (p.Ile429=) c.1213A= (p.Ile405=) c.1042A= (p.Ile348=) n.613A= n.2782A= c.*1040A= (n.*1040A=) c.1006A= (p.Ile336=) | |
| 21 | g.44893416C>A | CA410485652 | ITGB2 | c.1284G>T (p.Gln428His) c.1212G>T (p.Gln404His) c.1041G>T (p.Gln347His) n.612G>T n.2781G>T c.*1039G>T (n.*1039G>T) c.1005G>T (p.Gln335His) | |
| 21 | g.44893416C= | CA2391875872 | ITGB2 | c.1284G= (p.Gln428=) c.1212G= (p.Gln404=) c.1041G= (p.Gln347=) n.612G= n.2781G= c.*1039G= (n.*1039G=) c.1005G= (p.Gln335=) | |
| 21 | g.44893416C>G | CA410485650 | ITGB2 | c.1284G>C (p.Gln428His) c.1212G>C (p.Gln404His) c.1041G>C (p.Gln347His) n.612G>C n.2781G>C c.*1039G>C (n.*1039G>C) c.1005G>C (p.Gln335His) | |
| 21 | g.44893416C>T | CA10062900 | ITGB2 | c.1284G>A (p.Gln428=) c.1212G>A (p.Gln404=) c.1041G>A (p.Gln347=) n.612G>A n.2781G>A c.*1039G>A (n.*1039G>A) c.1005G>A (p.Gln335=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44893417T>A | CA410485654 | ITGB2 | c.1283A>T (p.Gln428Leu) c.1211A>T (p.Gln404Leu) c.1040A>T (p.Gln347Leu) n.611A>T n.2780A>T c.*1038A>T (n.*1038A>T) c.1004A>T (p.Gln335Leu) | |
| 21 | g.44893417T>C | CA410485655 | ITGB2 | c.1283A>G (p.Gln428Arg) c.1211A>G (p.Gln404Arg) c.1040A>G (p.Gln347Arg) n.611A>G n.2780A>G c.*1038A>G (n.*1038A>G) c.1004A>G (p.Gln335Arg) | |
| 21 | g.44893417T>G | CA410485657 | ITGB2 | c.1283A>C (p.Gln428Pro) c.1211A>C (p.Gln404Pro) c.1040A>C (p.Gln347Pro) n.611A>C n.2780A>C c.*1038A>C (n.*1038A>C) c.1004A>C (p.Gln335Pro) | |
| 21 | g.44893418G>A | CA410485659 | ITGB2 | c.1282C>T (p.Gln428Ter) c.1210C>T (p.Gln404Ter) c.1039C>T (p.Gln347Ter) n.610C>T n.2779C>T c.*1037C>T (n.*1037C>T) c.1003C>T (p.Gln335Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44893418G>C | CA410485661 | ITGB2 | c.1282C>G (p.Gln428Glu) c.1210C>G (p.Gln404Glu) c.1039C>G (p.Gln347Glu) n.610C>G n.2779C>G c.*1037C>G (n.*1037C>G) c.1003C>G (p.Gln335Glu) | |
| 21 | g.44893418G= | CA2391875873 | ITGB2 | c.1282C= (p.Gln428=) c.1210C= (p.Gln404=) c.1039C= (p.Gln347=) n.610C= n.2779C= c.*1037C= (n.*1037C=) c.1003C= (p.Gln335=) | |
| 21 | g.44893418G>T | CA410485662 | ITGB2 | c.1282C>A (p.Gln428Lys) c.1210C>A (p.Gln404Lys) c.1039C>A (p.Gln347Lys) n.610C>A n.2779C>A c.*1037C>A (n.*1037C>A) c.1003C>A (p.Gln335Lys) | |
| 21 | g.44893419C>A | CA512551502 | ITGB2 | c.1281G>T (p.Val427=) c.1209G>T (p.Val403=) c.1038G>T (p.Val346=) n.609G>T n.2778G>T c.*1036G>T (n.*1036G>T) c.1002G>T (p.Val334=) | |
| 21 | g.44893419C>G | CA512551501 | ITGB2 | c.1281G>C (p.Val427=) c.1209G>C (p.Val403=) c.1038G>C (p.Val346=) n.609G>C n.2778G>C c.*1036G>C (n.*1036G>C) c.1002G>C (p.Val334=) | |
| 21 | g.44893419C>T | CA512551500 | ITGB2 | c.1281G>A (p.Val427=) c.1209G>A (p.Val403=) c.1038G>A (p.Val346=) n.609G>A n.2778G>A c.*1036G>A (n.*1036G>A) c.1002G>A (p.Val334=) | |
| 21 | g.44893420A>C | CA410485664 | ITGB2 | c.1280T>G (p.Val427Gly) c.1208T>G (p.Val403Gly) c.1037T>G (p.Val346Gly) n.608T>G n.2777T>G c.*1035T>G (n.*1035T>G) c.1001T>G (p.Val334Gly) | |
| 21 | g.44893420A>G | CA410485665 | ITGB2 | c.1280T>C (p.Val427Ala) c.1208T>C (p.Val403Ala) c.1037T>C (p.Val346Ala) n.608T>C n.2777T>C c.*1035T>C (n.*1035T>C) c.1001T>C (p.Val334Ala) | |
| 21 | g.44893420A>T | CA410485667 | ITGB2 | c.1280T>A (p.Val427Glu) c.1208T>A (p.Val403Glu) c.1037T>A (p.Val346Glu) n.608T>A n.2777T>A c.*1035T>A (n.*1035T>A) c.1001T>A (p.Val334Glu) | |
| 21 | g.44893421C>A | CA410485669 | ITGB2 | c.1279G>T (p.Val427Leu) c.1207G>T (p.Val403Leu) c.1036G>T (p.Val346Leu) n.607G>T n.2776G>T c.*1034G>T (n.*1034G>T) c.1000G>T (p.Val334Leu) | |
| 21 | g.44893421C= | CA2391875874 | ITGB2 | c.1279G= (p.Val427=) c.1207G= (p.Val403=) c.1036G= (p.Val346=) n.607G= n.2776G= c.*1034G= (n.*1034G=) c.1000G= (p.Val334=) | |
| 21 | g.44893421C>G | CA410485671 | ITGB2 | c.1279G>C (p.Val427Leu) c.1207G>C (p.Val403Leu) c.1036G>C (p.Val346Leu) n.607G>C n.2776G>C c.*1034G>C (n.*1034G>C) c.1000G>C (p.Val334Leu) | |
| 21 | g.44893421C>T | CA10062901 | ITGB2 | c.1279G>A (p.Val427Met) c.1207G>A (p.Val403Met) c.1036G>A (p.Val346Met) n.607G>A n.2776G>A c.*1034G>A (n.*1034G>A) c.1000G>A (p.Val334Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44893422_44893423del | CA2654866986 | ITGB2 | c.1278_1279del (p.Val427AlafsTer?) c.1206_1207del (p.Val403AlafsTer?) c.1035_1036del (p.Val346AlafsTer?) n.606_607del n.2775_2776del c.*1033_*1034del (n.*1033_*1034del) c.999_1000del (p.Val334AlafsTer?) | gnomAD v4 |
| 21 | g.44893422G>A | CA10062902 | ITGB2 | c.1278C>T (p.Gly426=) c.1206C>T (p.Gly402=) c.1035C>T (p.Gly345=) n.606C>T n.2775C>T c.*1033C>T (n.*1033C>T) c.999C>T (p.Gly333=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44893422G>C | CA512551506 | ITGB2 | c.1278C>G (p.Gly426=) c.1206C>G (p.Gly402=) c.1035C>G (p.Gly345=) n.606C>G n.2775C>G c.*1033C>G (n.*1033C>G) c.999C>G (p.Gly333=) | |
| 21 | g.44893422G= | CA2391875875 | ITGB2 | c.1278C= (p.Gly426=) c.1206C= (p.Gly402=) c.1035C= (p.Gly345=) n.606C= n.2775C= c.*1033C= (n.*1033C=) c.999C= (p.Gly333=) | |
| 21 | g.44893422G>T | CA512551507 | ITGB2 | c.1278C>A (p.Gly426=) c.1206C>A (p.Gly402=) c.1035C>A (p.Gly345=) n.606C>A n.2775C>A c.*1033C>A (n.*1033C>A) c.999C>A (p.Gly333=) | |
| 21 | g.44893423C>A | CA410485678 | ITGB2 | c.1277G>T (p.Gly426Val) c.1205G>T (p.Gly402Val) c.1034G>T (p.Gly345Val) n.605G>T n.2774G>T c.*1032G>T (n.*1032G>T) c.998G>T (p.Gly333Val) | |
| 21 | g.44893423C>G | CA410485674 | ITGB2 | c.1277G>C (p.Gly426Ala) c.1205G>C (p.Gly402Ala) c.1034G>C (p.Gly345Ala) n.605G>C n.2774G>C c.*1032G>C (n.*1032G>C) c.998G>C (p.Gly333Ala) | |
| 21 | g.44893423C>T | CA410485676 | ITGB2 | c.1277G>A (p.Gly426Asp) c.1205G>A (p.Gly402Asp) c.1034G>A (p.Gly345Asp) n.605G>A n.2774G>A c.*1032G>A (n.*1032G>A) c.998G>A (p.Gly333Asp) | ClinVar dbSNP gnomAD v4 |
| 21 | g.44893424C>A | CA410485679 | ITGB2 | c.1276G>T (p.Gly426Cys) c.1204G>T (p.Gly402Cys) c.1033G>T (p.Gly345Cys) n.604G>T n.2773G>T c.*1031G>T (n.*1031G>T) c.997G>T (p.Gly333Cys) | |
| 21 | g.44893424C>G | CA410485681 | ITGB2 | c.1276G>C (p.Gly426Arg) c.1204G>C (p.Gly402Arg) c.1033G>C (p.Gly345Arg) n.604G>C n.2773G>C c.*1031G>C (n.*1031G>C) c.997G>C (p.Gly333Arg) | |
| 21 | g.44893424C>T | CA410485683 | ITGB2 | c.1276G>A (p.Gly426Ser) c.1204G>A (p.Gly402Ser) c.1033G>A (p.Gly345Ser) n.604G>A n.2773G>A c.*1031G>A (n.*1031G>A) c.997G>A (p.Gly333Ser) | gnomAD v4 |
| 21 | g.44893425A>C | CA410485685 | ITGB2 | c.1275T>G (p.Asp425Glu) c.1203T>G (p.Asp401Glu) c.1032T>G (p.Asp344Glu) n.603T>G n.2772T>G c.*1030T>G (n.*1030T>G) c.996T>G (p.Asp332Glu) | |
| 21 | g.44893425A>G | CA512551509 | ITGB2 | c.1275T>C (p.Asp425=) c.1203T>C (p.Asp401=) c.1032T>C (p.Asp344=) n.603T>C n.2772T>C c.*1030T>C (n.*1030T>C) c.996T>C (p.Asp332=) | gnomAD v4 |
| 21 | g.44893425A>T | CA410485686 | ITGB2 | c.1275T>A (p.Asp425Glu) c.1203T>A (p.Asp401Glu) c.1032T>A (p.Asp344Glu) n.603T>A n.2772T>A c.*1030T>A (n.*1030T>A) c.996T>A (p.Asp332Glu) | dbSNP |
| 21 | g.44893426T>A | CA410485689 | ITGB2 | c.1274A>T (p.Asp425Val) c.1202A>T (p.Asp401Val) c.1031A>T (p.Asp344Val) n.602A>T n.2771A>T c.*1029A>T (n.*1029A>T) c.995A>T (p.Asp332Val) | |
| 21 | g.44893426T>C | CA410485690 | ITGB2 | c.1274A>G (p.Asp425Gly) c.1202A>G (p.Asp401Gly) c.1031A>G (p.Asp344Gly) n.602A>G n.2771A>G c.*1029A>G (n.*1029A>G) c.995A>G (p.Asp332Gly) | ClinVar dbSNP gnomAD v4 |
| 21 | g.44893426T>G | CA410485692 | ITGB2 | c.1274A>C (p.Asp425Ala) c.1202A>C (p.Asp401Ala) c.1031A>C (p.Asp344Ala) n.602A>C n.2771A>C c.*1029A>C (n.*1029A>C) c.995A>C (p.Asp332Ala) | |
| 21 | g.44893426T= | CA2391875876 | ITGB2 | c.1274A= (p.Asp425=) c.1202A= (p.Asp401=) c.1031A= (p.Asp344=) n.602A= n.2771A= c.*1029A= (n.*1029A=) c.995A= (p.Asp332=) | |
| 21 | g.44893427C>A | CA410485693 | ITGB2 | c.1273G>T (p.Asp425Tyr) c.1201G>T (p.Asp401Tyr) c.1030G>T (p.Asp344Tyr) n.601G>T n.2770G>T c.*1028G>T (n.*1028G>T) c.994G>T (p.Asp332Tyr) | |
| 21 | g.44893427C>G | CA410485695 | ITGB2 | c.1273G>C (p.Asp425His) c.1201G>C (p.Asp401His) c.1030G>C (p.Asp344His) n.601G>C n.2770G>C c.*1028G>C (n.*1028G>C) c.994G>C (p.Asp332His) | |
| 21 | g.44893427C>T | CA410485697 | ITGB2 | c.1273G>A (p.Asp425Asn) c.1201G>A (p.Asp401Asn) c.1030G>A (p.Asp344Asn) n.601G>A n.2770G>A c.*1028G>A (n.*1028G>A) c.994G>A (p.Asp332Asn) | |
| 21 | g.44893428A= | CA2391875877 | ITGB2 | c.1272T= (p.Cys424=) c.1200T= (p.Cys400=) c.1029T= (p.Cys343=) n.600T= n.2769T= c.*1027T= (n.*1027T=) c.993T= (p.Cys331=) | |
| 21 | g.44893428A>C | CA410485701 | ITGB2 | c.1272T>G (p.Cys424Trp) c.1200T>G (p.Cys400Trp) c.1029T>G (p.Cys343Trp) n.600T>G n.2769T>G c.*1027T>G (n.*1027T>G) c.993T>G (p.Cys331Trp) | |
| 21 | g.44893428A>G | CA10062903 | ITGB2 | c.1272T>C (p.Cys424=) c.1200T>C (p.Cys400=) c.1029T>C (p.Cys343=) n.600T>C n.2769T>C c.*1027T>C (n.*1027T>C) c.993T>C (p.Cys331=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 21 | g.44893428A>T | CA410485699 | ITGB2 | c.1272T>A (p.Cys424Ter) c.1200T>A (p.Cys400Ter) c.1029T>A (p.Cys343Ter) n.600T>A n.2769T>A c.*1027T>A (n.*1027T>A) c.993T>A (p.Cys331Ter) | |
| 21 | g.44893429C>A | CA410485702 | ITGB2 | c.1271G>T (p.Cys424Phe) c.1199G>T (p.Cys400Phe) c.1028G>T (p.Cys343Phe) n.599G>T n.2768G>T c.*1026G>T (n.*1026G>T) c.992G>T (p.Cys331Phe) | |
| 21 | g.44893429C>G | CA410485704 | ITGB2 | c.1271G>C (p.Cys424Ser) c.1199G>C (p.Cys400Ser) c.1028G>C (p.Cys343Ser) n.599G>C n.2768G>C c.*1026G>C (n.*1026G>C) c.992G>C (p.Cys331Ser) | |
| 21 | g.44893429C>T | CA410485706 | ITGB2 | c.1271G>A (p.Cys424Tyr) c.1199G>A (p.Cys400Tyr) c.1028G>A (p.Cys343Tyr) n.599G>A n.2768G>A c.*1026G>A (n.*1026G>A) c.992G>A (p.Cys331Tyr) | |
| 21 | g.44893430A= | CA2391875878 | ITGB2 | c.1270T= (p.Cys424=) c.1198T= (p.Cys400=) c.1027T= (p.Cys343=) n.598T= n.2767T= c.*1025T= (n.*1025T=) c.991T= (p.Cys331=) | |
| 21 | g.44893430A>C | CA10062904 | ITGB2 | c.1270T>G (p.Cys424Gly) c.1198T>G (p.Cys400Gly) c.1027T>G (p.Cys343Gly) n.598T>G n.2767T>G c.*1025T>G (n.*1025T>G) c.991T>G (p.Cys331Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44893430A>G | CA10062905 | ITGB2 | c.1270T>C (p.Cys424Arg) c.1198T>C (p.Cys400Arg) c.1027T>C (p.Cys343Arg) n.598T>C n.2767T>C c.*1025T>C (n.*1025T>C) c.991T>C (p.Cys331Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44893430A>T | CA410485708 | ITGB2 | c.1270T>A (p.Cys424Ser) c.1198T>A (p.Cys400Ser) c.1027T>A (p.Cys343Ser) n.598T>A n.2767T>A c.*1025T>A (n.*1025T>A) c.991T>A (p.Cys331Ser) | |
| 21 | g.44893431G>A | CA512551514 | ITGB2 | c.1269C>T (p.Asp423=) c.1197C>T (p.Asp399=) c.1026C>T (p.Asp342=) n.597C>T n.2766C>T c.*1024C>T (n.*1024C>T) c.990C>T (p.Asp330=) | |
| 21 | g.44893431G>C | CA410485711 | ITGB2 | c.1269C>G (p.Asp423Glu) c.1197C>G (p.Asp399Glu) c.1026C>G (p.Asp342Glu) n.597C>G n.2766C>G c.*1024C>G (n.*1024C>G) c.990C>G (p.Asp330Glu) | |
| 21 | g.44893431G>T | CA410485710 | ITGB2 | c.1269C>A (p.Asp423Glu) c.1197C>A (p.Asp399Glu) c.1026C>A (p.Asp342Glu) n.597C>A n.2766C>A c.*1024C>A (n.*1024C>A) c.990C>A (p.Asp330Glu) | |
| 21 | g.44893432T>A | CA410485712 | ITGB2 | c.1268A>T (p.Asp423Val) c.1196A>T (p.Asp399Val) c.1025A>T (p.Asp342Val) n.596A>T n.2765A>T c.*1023A>T (n.*1023A>T) c.989A>T (p.Asp330Val) | |
| 21 | g.44893432T>C | CA410485714 | ITGB2 | c.1268A>G (p.Asp423Gly) c.1196A>G (p.Asp399Gly) c.1025A>G (p.Asp342Gly) n.596A>G n.2765A>G c.*1023A>G (n.*1023A>G) c.989A>G (p.Asp330Gly) | |
| 21 | g.44893432T>G | CA410485716 | ITGB2 | c.1268A>C (p.Asp423Ala) c.1196A>C (p.Asp399Ala) c.1025A>C (p.Asp342Ala) n.596A>C n.2765A>C c.*1023A>C (n.*1023A>C) c.989A>C (p.Asp330Ala) | |
| 21 | g.44893433C>A | CA410485718 | ITGB2 | c.1267G>T (p.Asp423Tyr) c.1195G>T (p.Asp399Tyr) c.1024G>T (p.Asp342Tyr) n.595G>T n.2764G>T c.*1022G>T (n.*1022G>T) c.988G>T (p.Asp330Tyr) | gnomAD v4 |
| 21 | g.44893433C= | CA2391875879 | ITGB2 | c.1267G= (p.Asp423=) c.1195G= (p.Asp399=) c.1024G= (p.Asp342=) n.595G= n.2764G= c.*1022G= (n.*1022G=) c.988G= (p.Asp330=) | |
| 21 | g.44893433C>G | CA410485719 | ITGB2 | c.1267G>C (p.Asp423His) c.1195G>C (p.Asp399His) c.1024G>C (p.Asp342His) n.595G>C n.2764G>C c.*1022G>C (n.*1022G>C) c.988G>C (p.Asp330His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.44893433C>T | CA410485721 | ITGB2 | c.1267G>A (p.Asp423Asn) c.1195G>A (p.Asp399Asn) c.1024G>A (p.Asp342Asn) n.595G>A n.2764G>A c.*1022G>A (n.*1022G>A) c.988G>A (p.Asp330Asn) | |
| 21 | g.44893434A>C | CA512551516 | ITGB2 | c.1266T>G (p.Gly422=) c.1194T>G (p.Gly398=) c.1023T>G (p.Gly341=) n.594T>G n.2763T>G c.*1021T>G (n.*1021T>G) c.987T>G (p.Gly329=) | |
| 21 | g.44893434A>G | CA512551517 | ITGB2 | c.1266T>C (p.Gly422=) c.1194T>C (p.Gly398=) c.1023T>C (p.Gly341=) n.594T>C n.2763T>C c.*1021T>C (n.*1021T>C) c.987T>C (p.Gly329=) | |
| 21 | g.44893434A>T | CA512551518 | ITGB2 | c.1266T>A (p.Gly422=) c.1194T>A (p.Gly398=) c.1023T>A (p.Gly341=) n.594T>A n.2763T>A c.*1021T>A (n.*1021T>A) c.987T>A (p.Gly329=) | |
| 21 | g.44893435C>A | CA410485726 | ITGB2 | c.1265G>T (p.Gly422Val) c.1193G>T (p.Gly398Val) c.1022G>T (p.Gly341Val) n.593G>T n.2762G>T c.*1020G>T (n.*1020G>T) c.986G>T (p.Gly329Val) | |
| 21 | g.44893435C>G | CA410485723 | ITGB2 | c.1265G>C (p.Gly422Ala) c.1193G>C (p.Gly398Ala) c.1022G>C (p.Gly341Ala) n.593G>C n.2762G>C c.*1020G>C (n.*1020G>C) c.986G>C (p.Gly329Ala) | |
| 21 | g.44893435C>T | CA410485724 | ITGB2 | c.1265G>A (p.Gly422Asp) c.1193G>A (p.Gly398Asp) c.1022G>A (p.Gly341Asp) n.593G>A n.2762G>A c.*1020G>A (n.*1020G>A) c.986G>A (p.Gly329Asp) | gnomAD v4 |
| 21 | g.44893436del | CA2654867011 | ITGB2 | c.1265del (p.Gly422ValfsTer16) c.1193del (p.Gly398ValfsTer16) c.1022del (p.Gly341ValfsTer16) n.593del n.2762del c.*1020del (n.*1020del) c.986del (p.Gly329ValfsTer16) | gnomAD v4 |
| 21 | g.44893436C>A | CA410485728 | ITGB2 | c.1264G>T (p.Gly422Cys) c.1192G>T (p.Gly398Cys) c.1021G>T (p.Gly341Cys) n.592G>T n.2761G>T c.*1019G>T (n.*1019G>T) c.985G>T (p.Gly329Cys) | COSMIC |
| 21 | g.44893436C= | CA2391875880 | ITGB2 | c.1264G= (p.Gly422=) c.1192G= (p.Gly398=) c.1021G= (p.Gly341=) n.592G= n.2761G= c.*1019G= (n.*1019G=) c.985G= (p.Gly329=) | |
| 21 | g.44893436C>G | CA410485730 | ITGB2 | c.1264G>C (p.Gly422Arg) c.1192G>C (p.Gly398Arg) c.1021G>C (p.Gly341Arg) n.592G>C n.2761G>C c.*1019G>C (n.*1019G>C) c.985G>C (p.Gly329Arg) | gnomAD v4 |
| 21 | g.44893436C>T | CA410485732 | ITGB2 | c.1264G>A (p.Gly422Ser) c.1192G>A (p.Gly398Ser) c.1021G>A (p.Gly341Ser) n.592G>A n.2761G>A c.*1019G>A (n.*1019G>A) c.985G>A (p.Gly329Ser) | dbSNP |
| 21 | g.44893437T>A | CA410485733 | ITGB2 | c.1263A>T (p.Arg421Ser) c.1191A>T (p.Arg397Ser) c.1020A>T (p.Arg340Ser) n.591A>T n.2760A>T c.*1018A>T (n.*1018A>T) c.984A>T (p.Arg328Ser) | gnomAD v4 |
| 21 | g.44893437T>C | CA512551522 | ITGB2 | c.1263A>G (p.Arg421=) c.1191A>G (p.Arg397=) c.1020A>G (p.Arg340=) n.591A>G n.2760A>G c.*1018A>G (n.*1018A>G) c.984A>G (p.Arg328=) | |
| 21 | g.44893437T>G | CA410485735 | ITGB2 | c.1263A>C (p.Arg421Ser) c.1191A>C (p.Arg397Ser) c.1020A>C (p.Arg340Ser) n.591A>C n.2760A>C c.*1018A>C (n.*1018A>C) c.984A>C (p.Arg328Ser) | |
| 21 | g.44893438C>A | CA410485736 | ITGB2 | c.1262G>T (p.Arg421Ile) c.1190G>T (p.Arg397Ile) c.1019G>T (p.Arg340Ile) n.590G>T n.2759G>T c.*1017G>T (n.*1017G>T) c.983G>T (p.Arg328Ile) | |
| 21 | g.44893438C= | CA2391875881 | ITGB2 | c.1262G= (p.Arg421=) c.1190G= (p.Arg397=) c.1019G= (p.Arg340=) n.590G= n.2759G= c.*1017G= (n.*1017G=) c.983G= (p.Arg328=) | |
| 21 | g.44893438C>G | CA321897506 | ITGB2 | c.1262G>C (p.Arg421Thr) c.1190G>C (p.Arg397Thr) c.1019G>C (p.Arg340Thr) n.590G>C n.2759G>C c.*1017G>C (n.*1017G>C) c.983G>C (p.Arg328Thr) | dbSNP |
| 21 | g.44893438C>T | CA410485738 | ITGB2 | c.1262G>A (p.Arg421Lys) c.1190G>A (p.Arg397Lys) c.1019G>A (p.Arg340Lys) n.590G>A n.2759G>A c.*1017G>A (n.*1017G>A) c.983G>A (p.Arg328Lys) | |
| 21 | g.44893439T>A | CA410485739 | ITGB2 | c.1261A>T (p.Arg421Ter) c.1189A>T (p.Arg397Ter) c.1018A>T (p.Arg340Ter) n.589A>T n.2758A>T c.*1016A>T (n.*1016A>T) c.982A>T (p.Arg328Ter) | |
| 21 | g.44893439T>C | CA410485741 | ITGB2 | c.1261A>G (p.Arg421Gly) c.1189A>G (p.Arg397Gly) c.1018A>G (p.Arg340Gly) n.589A>G n.2758A>G c.*1016A>G (n.*1016A>G) c.982A>G (p.Arg328Gly) | |
| 21 | g.44893439T>G | CA512551523 | ITGB2 | c.1261A>C (p.Arg421=) c.1189A>C (p.Arg397=) c.1018A>C (p.Arg340=) n.589A>C n.2758A>C c.*1016A>C (n.*1016A>C) c.982A>C (p.Arg328=) | |
| 21 | g.44893440G>A | CA512551524 | ITGB2 | c.1260C>T (p.Pro420=) c.1188C>T (p.Pro396=) c.1017C>T (p.Pro339=) n.588C>T n.2757C>T c.*1015C>T (n.*1015C>T) c.981C>T (p.Pro327=) | dbSNP gnomAD v2 |
| 21 | g.44893440G>C | CA512551525 | ITGB2 | c.1260C>G (p.Pro420=) c.1188C>G (p.Pro396=) c.1017C>G (p.Pro339=) n.588C>G n.2757C>G c.*1015C>G (n.*1015C>G) c.981C>G (p.Pro327=) | |
| 21 | g.44893440G= | CA2391875882 | ITGB2 | c.1260C= (p.Pro420=) c.1188C= (p.Pro396=) c.1017C= (p.Pro339=) n.588C= n.2757C= c.*1015C= (n.*1015C=) c.981C= (p.Pro327=) | |
| 21 | g.44893440G>T | CA512551526 | ITGB2 | c.1260C>A (p.Pro420=) c.1188C>A (p.Pro396=) c.1017C>A (p.Pro339=) n.588C>A n.2757C>A c.*1015C>A (n.*1015C>A) c.981C>A (p.Pro327=) | |
| 21 | g.44893441G>A | CA321897508 | ITGB2 | c.1259C>T (p.Pro420Leu) c.1187C>T (p.Pro396Leu) c.1016C>T (p.Pro339Leu) n.587C>T n.2756C>T c.*1014C>T (n.*1014C>T) c.980C>T (p.Pro327Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44893441G>C | CA410485743 | ITGB2 | c.1259C>G (p.Pro420Arg) c.1187C>G (p.Pro396Arg) c.1016C>G (p.Pro339Arg) n.587C>G n.2756C>G c.*1014C>G (n.*1014C>G) c.980C>G (p.Pro327Arg) | |
| 21 | g.44893441G= | CA2391875883 | ITGB2 | c.1259C= (p.Pro420=) c.1187C= (p.Pro396=) c.1016C= (p.Pro339=) n.587C= n.2756C= c.*1014C= (n.*1014C=) c.980C= (p.Pro327=) | |
| 21 | g.44893441G>T | CA410485745 | ITGB2 | c.1259C>A (p.Pro420His) c.1187C>A (p.Pro396His) c.1016C>A (p.Pro339His) n.587C>A n.2756C>A c.*1014C>A (n.*1014C>A) c.980C>A (p.Pro327His) | |
| 21 | g.44893442G>A | CA321897509 | ITGB2 | c.1258C>T (p.Pro420Ser) c.1186C>T (p.Pro396Ser) c.1015C>T (p.Pro339Ser) n.586C>T n.2755C>T c.*1013C>T (n.*1013C>T) c.979C>T (p.Pro327Ser) | dbSNP |
| 21 | g.44893442G>C | CA410485749 | ITGB2 | c.1258C>G (p.Pro420Ala) c.1186C>G (p.Pro396Ala) c.1015C>G (p.Pro339Ala) n.586C>G n.2755C>G c.*1013C>G (n.*1013C>G) c.979C>G (p.Pro327Ala) | |
| 21 | g.44893442G= | CA2391875884 | ITGB2 | c.1258C= (p.Pro420=) c.1186C= (p.Pro396=) c.1015C= (p.Pro339=) n.586C= n.2755C= c.*1013C= (n.*1013C=) c.979C= (p.Pro327=) | |
| 21 | g.44893442G>T | CA410485748 | ITGB2 | c.1258C>A (p.Pro420Thr) c.1186C>A (p.Pro396Thr) c.1015C>A (p.Pro339Thr) n.586C>A n.2755C>A c.*1013C>A (n.*1013C>A) c.979C>A (p.Pro327Thr) | |
| 21 | g.44893443C>A | CA410485750 | ITGB2 | c.1257G>T (p.Gln419His) c.1185G>T (p.Gln395His) c.1014G>T (p.Gln338His) n.585G>T n.2754G>T c.*1012G>T (n.*1012G>T) c.978G>T (p.Gln326His) | |
| 21 | g.44893443C= | CA2391875885 | ITGB2 | c.1257G= (p.Gln419=) c.1185G= (p.Gln395=) c.1014G= (p.Gln338=) n.585G= n.2754G= c.*1012G= (n.*1012G=) c.978G= (p.Gln326=) | |
| 21 | g.44893443C>G | CA410485752 | ITGB2 | c.1257G>C (p.Gln419His) c.1185G>C (p.Gln395His) c.1014G>C (p.Gln338His) n.585G>C n.2754G>C c.*1012G>C (n.*1012G>C) c.978G>C (p.Gln326His) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44893443C>T | CA512551527 | ITGB2 | c.1257G>A (p.Gln419=) c.1185G>A (p.Gln395=) c.1014G>A (p.Gln338=) n.585G>A n.2754G>A c.*1012G>A (n.*1012G>A) c.978G>A (p.Gln326=) | |
| 21 | g.44893444T>A | CA410485754 | ITGB2 | c.1256A>T (p.Gln419Leu) c.1184A>T (p.Gln395Leu) c.1013A>T (p.Gln338Leu) n.584A>T n.2753A>T c.*1011A>T (n.*1011A>T) c.977A>T (p.Gln326Leu) | |
| 21 | g.44893444T>C | CA410485756 | ITGB2 | c.1256A>G (p.Gln419Arg) c.1184A>G (p.Gln395Arg) c.1013A>G (p.Gln338Arg) n.584A>G n.2753A>G c.*1011A>G (n.*1011A>G) c.977A>G (p.Gln326Arg) | |
| 21 | g.44893444T>G | CA410485757 | ITGB2 | c.1256A>C (p.Gln419Pro) c.1184A>C (p.Gln395Pro) c.1013A>C (p.Gln338Pro) n.584A>C n.2753A>C c.*1011A>C (n.*1011A>C) c.977A>C (p.Gln326Pro) | |
| 21 | g.44893445G>A | CA10062906 | ITGB2 | c.1255C>T (p.Gln419Ter) c.1183C>T (p.Gln395Ter) c.1012C>T (p.Gln338Ter) n.583C>T n.2752C>T c.*1010C>T (n.*1010C>T) c.976C>T (p.Gln326Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44893445G>C | CA410485759 | ITGB2 | c.1255C>G (p.Gln419Glu) c.1183C>G (p.Gln395Glu) c.1012C>G (p.Gln338Glu) n.583C>G n.2752C>G c.*1010C>G (n.*1010C>G) c.976C>G (p.Gln326Glu) | gnomAD v4 |
| 21 | g.44893445G= | CA2391875886 | ITGB2 | c.1255C= (p.Gln419=) c.1183C= (p.Gln395=) c.1012C= (p.Gln338=) n.583C= n.2752C= c.*1010C= (n.*1010C=) c.976C= (p.Gln326=) | |
| 21 | g.44893445G>T | CA410485761 | ITGB2 | c.1255C>A (p.Gln419Lys) c.1183C>A (p.Gln395Lys) c.1012C>A (p.Gln338Lys) n.583C>A n.2752C>A c.*1010C>A (n.*1010C>A) c.976C>A (p.Gln326Lys) | |
| 21 | g.44893446G>A | CA512551528 | ITGB2 | c.1254C>T (p.Asn418=) c.1182C>T (p.Asn394=) c.1011C>T (p.Asn337=) n.582C>T n.2751C>T c.*1009C>T (n.*1009C>T) c.975C>T (p.Asn325=) | |
| 21 | g.44893446G>C | CA410485762 | ITGB2 | c.1254C>G (p.Asn418Lys) c.1182C>G (p.Asn394Lys) c.1011C>G (p.Asn337Lys) n.582C>G n.2751C>G c.*1009C>G (n.*1009C>G) c.975C>G (p.Asn325Lys) | |
| 21 | g.44893446G>T | CA410485764 | ITGB2 | c.1254C>A (p.Asn418Lys) c.1182C>A (p.Asn394Lys) c.1011C>A (p.Asn337Lys) n.582C>A n.2751C>A c.*1009C>A (n.*1009C>A) c.975C>A (p.Asn325Lys) | gnomAD v4 |
| 21 | g.44893447T>A | CA410485766 | ITGB2 | c.1253A>T (p.Asn418Ile) c.1181A>T (p.Asn394Ile) c.1010A>T (p.Asn337Ile) n.581A>T n.2750A>T c.*1008A>T (n.*1008A>T) c.974A>T (p.Asn325Ile) | |
| 21 | g.44893447T>C | CA410485767 | ITGB2 | c.1253A>G (p.Asn418Ser) c.1181A>G (p.Asn394Ser) c.1010A>G (p.Asn337Ser) n.581A>G n.2750A>G c.*1008A>G (n.*1008A>G) c.974A>G (p.Asn325Ser) | |
| 21 | g.44893447T>G | CA410485769 | ITGB2 | c.1253A>C (p.Asn418Thr) c.1181A>C (p.Asn394Thr) c.1010A>C (p.Asn337Thr) n.581A>C n.2750A>C c.*1008A>C (n.*1008A>C) c.974A>C (p.Asn325Thr) | |
| 21 | g.44893448T>A | CA410485771 | ITGB2 | c.1252A>T (p.Asn418Tyr) c.1180A>T (p.Asn394Tyr) c.1009A>T (p.Asn337Tyr) n.580A>T n.2749A>T c.*1007A>T (n.*1007A>T) c.973A>T (p.Asn325Tyr) | |
| 21 | g.44893448T>C | CA410485774 | ITGB2 | c.1252A>G (p.Asn418Asp) c.1180A>G (p.Asn394Asp) c.1009A>G (p.Asn337Asp) n.580A>G n.2749A>G c.*1007A>G (n.*1007A>G) c.973A>G (p.Asn325Asp) | |
| 21 | g.44893448T>G | CA410485773 | ITGB2 | c.1252A>C (p.Asn418His) c.1180A>C (p.Asn394His) c.1009A>C (p.Asn337His) n.580A>C n.2749A>C c.*1007A>C (n.*1007A>C) c.973A>C (p.Asn325His) | |
| 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) |