Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.44901448A=CA2391880148ITGB2c.741+44T= (n.741+44T=)
c.714+44T= (n.714+44T=)
c.570+44T= (n.570+44T=)
n.884+44T=
c.*568+44T= (n.*568+44T=)
c.534+44T= (n.534+44T=)
21g.44901448A>GCA321851343ITGB2c.741+44T>C (n.741+44T>C)
c.714+44T>C (n.714+44T>C)
c.570+44T>C (n.570+44T>C)
n.884+44T>C
c.*568+44T>C (n.*568+44T>C)
c.534+44T>C (n.534+44T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.44901448dupCA2577624463ITGB2c.741+44dup (n.741+44dup)
c.714+44dup (n.714+44dup)
c.570+44dup (n.570+44dup)
n.884+44dup
c.*568+44dup (n.*568+44dup)
c.534+44dup (n.534+44dup)
21g.44901449C>ACA2654867097ITGB2c.741+43G>T (n.741+43G>T)
c.714+43G>T (n.714+43G>T)
c.570+43G>T (n.570+43G>T)
n.884+43G>T
c.*568+43G>T (n.*568+43G>T)
c.534+43G>T (n.534+43G>T)
 gnomAD v4
21g.44901449C>TCA2654867098ITGB2c.741+43G>A (n.741+43G>A)
c.714+43G>A (n.714+43G>A)
c.570+43G>A (n.570+43G>A)
n.884+43G>A
c.*568+43G>A (n.*568+43G>A)
c.534+43G>A (n.534+43G>A)
 gnomAD v4
21g.44901450A=CA2391880149ITGB2c.741+42T= (n.741+42T=)
c.714+42T= (n.714+42T=)
c.570+42T= (n.570+42T=)
n.884+42T=
c.*568+42T= (n.*568+42T=)
c.534+42T= (n.534+42T=)
21g.44901450A>GCA10063106ITGB2c.741+42T>C (n.741+42T>C)
c.714+42T>C (n.714+42T>C)
c.570+42T>C (n.570+42T>C)
n.884+42T>C
c.*568+42T>C (n.*568+42T>C)
c.534+42T>C (n.534+42T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44901451C>ACA2518209285ITGB2c.741+41G>T (n.741+41G>T)
c.714+41G>T (n.714+41G>T)
c.570+41G>T (n.570+41G>T)
n.884+41G>T
c.*568+41G>T (n.*568+41G>T)
c.534+41G>T (n.534+41G>T)
 gnomAD v4
21g.44901451C>GCA2654867099ITGB2c.741+41G>C (n.741+41G>C)
c.714+41G>C (n.714+41G>C)
c.570+41G>C (n.570+41G>C)
n.884+41G>C
c.*568+41G>C (n.*568+41G>C)
c.534+41G>C (n.534+41G>C)
 gnomAD v4
21g.44901451C>TCA2654867101ITGB2c.741+41G>A (n.741+41G>A)
c.714+41G>A (n.714+41G>A)
c.570+41G>A (n.570+41G>A)
n.884+41G>A
c.*568+41G>A (n.*568+41G>A)
c.534+41G>A (n.534+41G>A)
 gnomAD v4
21g.44901452T=CA2391880150ITGB2c.741+40A= (n.741+40A=)
c.714+40A= (n.714+40A=)
c.570+40A= (n.570+40A=)
n.884+40A=
c.*568+40A= (n.*568+40A=)
c.534+40A= (n.534+40A=)
21g.44901453G>ACA2577624464ITGB2c.741+39C>T (n.741+39C>T)
c.714+39C>T (n.714+39C>T)
c.570+39C>T (n.570+39C>T)
n.884+39C>T
c.*568+39C>T (n.*568+39C>T)
c.534+39C>T (n.534+39C>T)
 gnomAD v4
21g.44901453G>TCA2577624465ITGB2c.741+39C>A (n.741+39C>A)
c.714+39C>A (n.714+39C>A)
c.570+39C>A (n.570+39C>A)
n.884+39C>A
c.*568+39C>A (n.*568+39C>A)
c.534+39C>A (n.534+39C>A)
21g.44901457dupCA638496036ITGB2c.741+39dup (n.741+39dup)
c.714+39dup (n.714+39dup)
c.570+39dup (n.570+39dup)
n.884+39dup
c.*568+39dup (n.*568+39dup)
c.534+39dup (n.534+39dup)
 dbSNP gnomAD v2
21g.44901457delCA2654867102ITGB2c.741+39del (n.741+39del)
c.714+39del (n.714+39del)
c.570+39del (n.570+39del)
n.884+39del
c.*568+39del (n.*568+39del)
c.534+39del (n.534+39del)
 gnomAD v4
21g.44901454G>ACA638496037ITGB2c.741+38C>T (n.741+38C>T)
c.714+38C>T (n.714+38C>T)
c.570+38C>T (n.570+38C>T)
n.884+38C>T
c.*568+38C>T (n.*568+38C>T)
c.534+38C>T (n.534+38C>T)
 dbSNP gnomAD v2 gnomAD v4
21g.44901454G=CA2391880151ITGB2c.741+38C= (n.741+38C=)
c.714+38C= (n.714+38C=)
c.570+38C= (n.570+38C=)
n.884+38C=
c.*568+38C= (n.*568+38C=)
c.534+38C= (n.534+38C=)
21g.44901455G>ACA2654867104ITGB2c.741+37C>T (n.741+37C>T)
c.714+37C>T (n.714+37C>T)
c.570+37C>T (n.570+37C>T)
n.884+37C>T
c.*568+37C>T (n.*568+37C>T)
c.534+37C>T (n.534+37C>T)
 gnomAD v4
21g.44901456G=CA2391880152ITGB2c.741+36C= (n.741+36C=)
c.714+36C= (n.714+36C=)
c.570+36C= (n.570+36C=)
n.884+36C=
c.*568+36C= (n.*568+36C=)
c.534+36C= (n.534+36C=)
21g.44901456G>TCA321851347ITGB2c.741+36C>A (n.741+36C>A)
c.714+36C>A (n.714+36C>A)
c.570+36C>A (n.570+36C>A)
n.884+36C>A
c.*568+36C>A (n.*568+36C>A)
c.534+36C>A (n.534+36C>A)
 dbSNP gnomAD v2 gnomAD v4
21g.44901457G>ACA638496038ITGB2c.741+35C>T (n.741+35C>T)
c.714+35C>T (n.714+35C>T)
c.570+35C>T (n.570+35C>T)
n.884+35C>T
c.*568+35C>T (n.*568+35C>T)
c.534+35C>T (n.534+35C>T)
 dbSNP gnomAD v2 gnomAD v4
21g.44901457G>CCA2391880154ITGB2c.741+35C>G (n.741+35C>G)
c.714+35C>G (n.714+35C>G)
c.570+35C>G (n.570+35C>G)
n.884+35C>G
c.*568+35C>G (n.*568+35C>G)
c.534+35C>G (n.534+35C>G)
 dbSNP
21g.44901457G=CA2391880153ITGB2c.741+35C= (n.741+35C=)
c.714+35C= (n.714+35C=)
c.570+35C= (n.570+35C=)
n.884+35C=
c.*568+35C= (n.*568+35C=)
c.534+35C= (n.534+35C=)
21g.44901459A=CA2391880155ITGB2c.741+33T= (n.741+33T=)
c.714+33T= (n.714+33T=)
c.570+33T= (n.570+33T=)
n.884+33T=
c.*568+33T= (n.*568+33T=)
c.534+33T= (n.534+33T=)
21g.44901459A>CCA2505932778ITGB2c.741+33T>G (n.741+33T>G)
c.714+33T>G (n.714+33T>G)
c.570+33T>G (n.570+33T>G)
n.884+33T>G
c.*568+33T>G (n.*568+33T>G)
c.534+33T>G (n.534+33T>G)
 gnomAD v4
21g.44901459A>GCA749745655ITGB2c.741+33T>C (n.741+33T>C)
c.714+33T>C (n.714+33T>C)
c.570+33T>C (n.570+33T>C)
n.884+33T>C
c.*568+33T>C (n.*568+33T>C)
c.534+33T>C (n.534+33T>C)
 dbSNP gnomAD v3 gnomAD v4
21g.44901460C=CA2391880156ITGB2c.741+32G= (n.741+32G=)
c.714+32G= (n.714+32G=)
c.570+32G= (n.570+32G=)
n.884+32G=
c.*568+32G= (n.*568+32G=)
c.534+32G= (n.534+32G=)
21g.44901460C>TCA10063107ITGB2c.741+32G>A (n.741+32G>A)
c.714+32G>A (n.714+32G>A)
c.570+32G>A (n.570+32G>A)
n.884+32G>A
c.*568+32G>A (n.*568+32G>A)
c.534+32G>A (n.534+32G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44901461G>ACA10063108ITGB2c.741+31C>T (n.741+31C>T)
c.714+31C>T (n.714+31C>T)
c.570+31C>T (n.570+31C>T)
n.884+31C>T
c.*568+31C>T (n.*568+31C>T)
c.534+31C>T (n.534+31C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44901461G=CA2391880157ITGB2c.741+31C= (n.741+31C=)
c.714+31C= (n.714+31C=)
c.570+31C= (n.570+31C=)
n.884+31C=
c.*568+31C= (n.*568+31C=)
c.534+31C= (n.534+31C=)
21g.44901463G>ACA2391880159ITGB2c.741+29C>T (n.741+29C>T)
c.714+29C>T (n.714+29C>T)
c.570+29C>T (n.570+29C>T)
n.884+29C>T
c.*568+29C>T (n.*568+29C>T)
c.534+29C>T (n.534+29C>T)
 dbSNP gnomAD v4
21g.44901463G=CA2391880158ITGB2c.741+29C= (n.741+29C=)
c.714+29C= (n.714+29C=)
c.570+29C= (n.570+29C=)
n.884+29C=
c.*568+29C= (n.*568+29C=)
c.534+29C= (n.534+29C=)
21g.44901463G>TCA10063109ITGB2c.741+29C>A (n.741+29C>A)
c.714+29C>A (n.714+29C>A)
c.570+29C>A (n.570+29C>A)
n.884+29C>A
c.*568+29C>A (n.*568+29C>A)
c.534+29C>A (n.534+29C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44901466G>ACA2502456969ITGB2c.741+26C>T (n.741+26C>T)
c.714+26C>T (n.714+26C>T)
c.570+26C>T (n.570+26C>T)
n.884+26C>T
c.*568+26C>T (n.*568+26C>T)
c.534+26C>T (n.534+26C>T)
 gnomAD v4
21g.44901467A=CA2391880160ITGB2c.741+25T= (n.741+25T=)
c.714+25T= (n.714+25T=)
c.570+25T= (n.570+25T=)
n.884+25T=
c.*568+25T= (n.*568+25T=)
c.534+25T= (n.534+25T=)
21g.44901467A>GCA10063110ITGB2c.741+25T>C (n.741+25T>C)
c.714+25T>C (n.714+25T>C)
c.570+25T>C (n.570+25T>C)
n.884+25T>C
c.*568+25T>C (n.*568+25T>C)
c.534+25T>C (n.534+25T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44901468C>ACA2654867108ITGB2c.741+24G>T (n.741+24G>T)
c.714+24G>T (n.714+24G>T)
c.570+24G>T (n.570+24G>T)
n.884+24G>T
c.*568+24G>T (n.*568+24G>T)
c.534+24G>T (n.534+24G>T)
 gnomAD v4
21g.44901468C=CA2391880161ITGB2c.741+24G= (n.741+24G=)
c.714+24G= (n.714+24G=)
c.570+24G= (n.570+24G=)
n.884+24G=
c.*568+24G= (n.*568+24G=)
c.534+24G= (n.534+24G=)
21g.44901468C>TCA638496039ITGB2c.741+24G>A (n.741+24G>A)
c.714+24G>A (n.714+24G>A)
c.570+24G>A (n.570+24G>A)
n.884+24G>A
c.*568+24G>A (n.*568+24G>A)
c.534+24G>A (n.534+24G>A)
 dbSNP gnomAD v2
21g.44901469C>ACA2818060384ITGB2c.741+23G>T (n.741+23G>T)
c.714+23G>T (n.714+23G>T)
c.570+23G>T (n.570+23G>T)
n.884+23G>T
c.*568+23G>T (n.*568+23G>T)
c.534+23G>T (n.534+23G>T)
21g.44901472A>GCA2654867109ITGB2c.741+20T>C (n.741+20T>C)
c.714+20T>C (n.714+20T>C)
c.570+20T>C (n.570+20T>C)
n.884+20T>C
c.*568+20T>C (n.*568+20T>C)
c.534+20T>C (n.534+20T>C)
 gnomAD v4
21g.44901473G>ACA10063111ITGB2c.741+19C>T (n.741+19C>T)
c.714+19C>T (n.714+19C>T)
c.570+19C>T (n.570+19C>T)
n.884+19C>T
c.*568+19C>T (n.*568+19C>T)
c.534+19C>T (n.534+19C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44901473G=CA2391880162ITGB2c.741+19C= (n.741+19C=)
c.714+19C= (n.714+19C=)
c.570+19C= (n.570+19C=)
n.884+19C=
c.*568+19C= (n.*568+19C=)
c.534+19C= (n.534+19C=)
21g.44901473G>TCA2573157433ITGB2c.741+19C>A (n.741+19C>A)
c.714+19C>A (n.714+19C>A)
c.570+19C>A (n.570+19C>A)
n.884+19C>A
c.*568+19C>A (n.*568+19C>A)
c.534+19C>A (n.534+19C>A)
 ClinVar dbSNP gnomAD v4
21g.44901474C=CA2391880163ITGB2c.741+18G= (n.741+18G=)
c.714+18G= (n.714+18G=)
c.570+18G= (n.570+18G=)
n.884+18G=
c.*568+18G= (n.*568+18G=)
c.534+18G= (n.534+18G=)
21g.44901474C>GCA1022754649ITGB2c.741+18G>C (n.741+18G>C)
c.714+18G>C (n.714+18G>C)
c.570+18G>C (n.570+18G>C)
n.884+18G>C
c.*568+18G>C (n.*568+18G>C)
c.534+18G>C (n.534+18G>C)
 gnomAD v3 gnomAD v4
21g.44901474C>TCA10063112ITGB2c.741+18G>A (n.741+18G>A)
c.714+18G>A (n.714+18G>A)
c.570+18G>A (n.570+18G>A)
n.884+18G>A
c.*568+18G>A (n.*568+18G>A)
c.534+18G>A (n.534+18G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.44901475_44901476delinsAGCA2391880164ITGB2c.741+16_741+17delinsCT (n.741+16_741+17delinsCT)
c.714+16_714+17delinsCT (n.714+16_714+17delinsCT)
c.570+16_570+17delinsCT (n.570+16_570+17delinsCT)
n.884+16_884+17delinsCT
c.*568+16_*568+17delinsCT (n.*568+16_*568+17delinsCT)
c.534+16_534+17delinsCT (n.534+16_534+17delinsCT)
21g.44901476G>ACA2391880166ITGB2c.741+16C>T (n.741+16C>T)
c.714+16C>T (n.714+16C>T)
c.570+16C>T (n.570+16C>T)
n.884+16C>T
c.*568+16C>T (n.*568+16C>T)
c.534+16C>T (n.534+16C>T)
 dbSNP
21g.44901476G>CCA638496040ITGB2c.741+16C>G (n.741+16C>G)
c.714+16C>G (n.714+16C>G)
c.570+16C>G (n.570+16C>G)
n.884+16C>G
c.*568+16C>G (n.*568+16C>G)
c.534+16C>G (n.534+16C>G)
 dbSNP gnomAD v2 gnomAD v4
21g.44901476G=CA2391880165ITGB2c.741+16C= (n.741+16C=)
c.714+16C= (n.714+16C=)
c.570+16C= (n.570+16C=)
n.884+16C=
c.*568+16C= (n.*568+16C=)
c.534+16C= (n.534+16C=)
21g.44901479delCA10063113ITGB2c.741+16del (n.741+16del)
c.714+16del (n.714+16del)
c.570+16del (n.570+16del)
n.884+16del
c.*568+16del (n.*568+16del)
c.534+16del (n.534+16del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44901477G>ACA10063114ITGB2c.741+15C>T (n.741+15C>T)
c.714+15C>T (n.714+15C>T)
c.570+15C>T (n.570+15C>T)
n.884+15C>T
c.*568+15C>T (n.*568+15C>T)
c.534+15C>T (n.534+15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44901477G=CA2391880167ITGB2c.741+15C= (n.741+15C=)
c.714+15C= (n.714+15C=)
c.570+15C= (n.570+15C=)
n.884+15C=
c.*568+15C= (n.*568+15C=)
c.534+15C= (n.534+15C=)
21g.44901478G>ACA638496041ITGB2c.741+14C>T (n.741+14C>T)
c.714+14C>T (n.714+14C>T)
c.570+14C>T (n.570+14C>T)
n.884+14C>T
c.*568+14C>T (n.*568+14C>T)
c.534+14C>T (n.534+14C>T)
 dbSNP gnomAD v2 gnomAD v4
21g.44901478G=CA2391880168ITGB2c.741+14C= (n.741+14C=)
c.714+14C= (n.714+14C=)
c.570+14C= (n.570+14C=)
n.884+14C=
c.*568+14C= (n.*568+14C=)
c.534+14C= (n.534+14C=)
21g.44901479G>CCA2580098831ITGB2c.741+13C>G (n.741+13C>G)
c.714+13C>G (n.714+13C>G)
c.570+13C>G (n.570+13C>G)
n.884+13C>G
c.*568+13C>G (n.*568+13C>G)
c.534+13C>G (n.534+13C>G)
 ClinVar gnomAD v4
21g.44901480C=CA2391880169ITGB2c.741+12G= (n.741+12G=)
c.714+12G= (n.714+12G=)
c.570+12G= (n.570+12G=)
n.884+12G=
c.*568+12G= (n.*568+12G=)
c.534+12G= (n.534+12G=)
21g.44901480C>TCA10063115ITGB2c.741+12G>A (n.741+12G>A)
c.714+12G>A (n.714+12G>A)
c.570+12G>A (n.570+12G>A)
n.884+12G>A
c.*568+12G>A (n.*568+12G>A)
c.534+12G>A (n.534+12G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44901483C=CA2391880170ITGB2c.741+9G= (n.741+9G=)
c.714+9G= (n.714+9G=)
c.570+9G= (n.570+9G=)
n.884+9G=
c.*568+9G= (n.*568+9G=)
c.534+9G= (n.534+9G=)
21g.44901483C>TCA10063116ITGB2c.741+9G>A (n.741+9G>A)
c.714+9G>A (n.714+9G>A)
c.570+9G>A (n.570+9G>A)
n.884+9G>A
c.*568+9G>A (n.*568+9G>A)
c.534+9G>A (n.534+9G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44901484G>ACA10063117ITGB2c.741+8C>T (n.741+8C>T)
c.714+8C>T (n.714+8C>T)
c.570+8C>T (n.570+8C>T)
n.884+8C>T
c.*568+8C>T (n.*568+8C>T)
c.534+8C>T (n.534+8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44901484G=CA2391880171ITGB2c.741+8C= (n.741+8C=)
c.714+8C= (n.714+8C=)
c.570+8C= (n.570+8C=)
n.884+8C=
c.*568+8C= (n.*568+8C=)
c.534+8C= (n.534+8C=)
21g.44901485G>ACA10063118ITGB2c.741+7C>T (n.741+7C>T)
c.714+7C>T (n.714+7C>T)
c.570+7C>T (n.570+7C>T)
n.884+7C>T
c.*568+7C>T (n.*568+7C>T)
c.534+7C>T (n.534+7C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.44901485G=CA2391880172ITGB2c.741+7C= (n.741+7C=)
c.714+7C= (n.714+7C=)
c.570+7C= (n.570+7C=)
n.884+7C=
c.*568+7C= (n.*568+7C=)
c.534+7C= (n.534+7C=)
21g.44901486C>TCA2580612163ITGB2c.741+6G>A (n.741+6G>A)
c.714+6G>A (n.714+6G>A)
c.570+6G>A (n.570+6G>A)
n.884+6G>A
c.*568+6G>A (n.*568+6G>A)
c.534+6G>A (n.534+6G>A)
 gnomAD v4
21g.44901487C=CA2391880173ITGB2c.741+5G= (n.741+5G=)
c.714+5G= (n.714+5G=)
c.570+5G= (n.570+5G=)
n.884+5G=
c.*568+5G= (n.*568+5G=)
c.534+5G= (n.534+5G=)
21g.44901487C>TCA10063119ITGB2c.741+5G>A (n.741+5G>A)
c.714+5G>A (n.714+5G>A)
c.570+5G>A (n.570+5G>A)
n.884+5G>A
c.*568+5G>A (n.*568+5G>A)
c.534+5G>A (n.534+5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.44901489C=CA2391880174ITGB2c.741+3G= (n.741+3G=)
c.714+3G= (n.714+3G=)
c.570+3G= (n.570+3G=)
n.884+3G=
c.*568+3G= (n.*568+3G=)
c.534+3G= (n.534+3G=)
21g.44901489C>TCA2391880175ITGB2c.741+3G>A (n.741+3G>A)
c.714+3G>A (n.714+3G>A)
c.570+3G>A (n.570+3G>A)
n.884+3G>A
c.*568+3G>A (n.*568+3G>A)
c.534+3G>A (n.534+3G>A)
 dbSNP
21g.44901490A>CCA410475932ITGB2c.741+2T>G (n.741+2T>G)
c.714+2T>G (n.714+2T>G)
c.570+2T>G (n.570+2T>G)
n.884+2T>G
c.*568+2T>G (n.*568+2T>G)
c.534+2T>G (n.534+2T>G)
21g.44901490A>GCA410475935ITGB2c.741+2T>C (n.741+2T>C)
c.714+2T>C (n.714+2T>C)
c.570+2T>C (n.570+2T>C)
n.884+2T>C
c.*568+2T>C (n.*568+2T>C)
c.534+2T>C (n.534+2T>C)
21g.44901490A>TCA410475938ITGB2c.741+2T>A (n.741+2T>A)
c.714+2T>A (n.714+2T>A)
c.570+2T>A (n.570+2T>A)
n.884+2T>A
c.*568+2T>A (n.*568+2T>A)
c.534+2T>A (n.534+2T>A)
21g.44901491C>ACA410475942ITGB2c.741+1G>T (n.741+1G>T)
c.714+1G>T (n.714+1G>T)
c.570+1G>T (n.570+1G>T)
n.884+1G>T
c.*568+1G>T (n.*568+1G>T)
c.534+1G>T (n.534+1G>T)
 gnomAD v4
21g.44901491C=CA2391880176ITGB2c.741+1G= (n.741+1G=)
c.714+1G= (n.714+1G=)
c.570+1G= (n.570+1G=)
n.884+1G=
c.*568+1G= (n.*568+1G=)
c.534+1G= (n.534+1G=)
21g.44901491C>GCA410475944ITGB2c.741+1G>C (n.741+1G>C)
c.714+1G>C (n.714+1G>C)
c.570+1G>C (n.570+1G>C)
n.884+1G>C
c.*568+1G>C (n.*568+1G>C)
c.534+1G>C (n.534+1G>C)
21g.44901491C>TCA410475946ITGB2c.741+1G>A (n.741+1G>A)
c.714+1G>A (n.714+1G>A)
c.570+1G>A (n.570+1G>A)
n.884+1G>A
c.*568+1G>A (n.*568+1G>A)
c.534+1G>A (n.534+1G>A)
 ClinVar dbSNP
21g.44901492delCA2695230304ITGB2c.741+1del
c.714+1del
c.570+1del
n.884+1del
c.*568+1del
c.534+1del
21g.44901492C>ACA10063120ITGB2c.741G>T (p.Pro247=)
c.714G>T (p.Pro238=)
c.570G>T (p.Pro190=)
n.884G>T
c.*568G>T (n.*568G>T)
c.534G>T (p.Pro178=)
 dbSNP ExAC gnomAD v2 COSMIC
21g.44901492C=CA2391880177ITGB2c.741G= (p.Pro247=)
c.714G= (p.Pro238=)
c.570G= (p.Pro190=)
n.884G=
c.*568G= (n.*568G=)
c.534G= (p.Pro178=)
21g.44901492C>GCA512551655ITGB2c.741G>C (p.Pro247=)
c.714G>C (p.Pro238=)
c.570G>C (p.Pro190=)
n.884G>C
c.*568G>C (n.*568G>C)
c.534G>C (p.Pro178=)
 gnomAD v4
21g.44901492C>TCA10063121ITGB2c.741G>A (p.Pro247=)
c.714G>A (p.Pro238=)
c.570G>A (p.Pro190=)
n.884G>A
c.*568G>A (n.*568G>A)
c.534G>A (p.Pro178=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44901493G>ACA10063122ITGB2c.740C>T (p.Pro247Leu)
c.713C>T (p.Pro238Leu)
c.569C>T (p.Pro190Leu)
n.883C>T
c.*567C>T (n.*567C>T)
c.533C>T (p.Pro178Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.44901493G>CCA410475948ITGB2c.740C>G (p.Pro247Arg)
c.713C>G (p.Pro238Arg)
c.569C>G (p.Pro190Arg)
n.883C>G
c.*567C>G (n.*567C>G)
c.533C>G (p.Pro178Arg)
 dbSNP gnomAD v2 gnomAD v4
21g.44901493G=CA2391880178ITGB2c.740C= (p.Pro247=)
c.713C= (p.Pro238=)
c.569C= (p.Pro190=)
n.883C=
c.*567C= (n.*567C=)
c.533C= (p.Pro178=)
21g.44901493G>TCA410475947ITGB2c.740C>A (p.Pro247Gln)
c.713C>A (p.Pro238Gln)
c.569C>A (p.Pro190Gln)
n.883C>A
c.*567C>A (n.*567C>A)
c.533C>A (p.Pro178Gln)
21g.44901494G>ACA410475949ITGB2c.739C>T (p.Pro247Ser)
c.712C>T (p.Pro238Ser)
c.568C>T (p.Pro190Ser)
n.882C>T
c.*566C>T (n.*566C>T)
c.532C>T (p.Pro178Ser)
21g.44901494G>CCA410475950ITGB2c.739C>G (p.Pro247Ala)
c.712C>G (p.Pro238Ala)
c.568C>G (p.Pro190Ala)
n.882C>G
c.*566C>G (n.*566C>G)
c.532C>G (p.Pro178Ala)
21g.44901494G>TCA410475951ITGB2c.739C>A (p.Pro247Thr)
c.712C>A (p.Pro238Thr)
c.568C>A (p.Pro190Thr)
n.882C>A
c.*566C>A (n.*566C>A)
c.532C>A (p.Pro178Thr)
21g.44901495G>ACA512551656ITGB2c.738C>T (p.Cys246=)
c.711C>T (p.Cys237=)
c.567C>T (p.Cys189=)
n.881C>T
c.*565C>T (n.*565C>T)
c.531C>T (p.Cys177=)
21g.44901495G>CCA410475952ITGB2c.738C>G (p.Cys246Trp)
c.711C>G (p.Cys237Trp)
c.567C>G (p.Cys189Trp)
n.881C>G
c.*565C>G (n.*565C>G)
c.531C>G (p.Cys177Trp)
21g.44901495G>TCA410475953ITGB2c.738C>A (p.Cys246Ter)
c.711C>A (p.Cys237Ter)
c.567C>A (p.Cys189Ter)
n.881C>A
c.*565C>A (n.*565C>A)
c.531C>A (p.Cys177Ter)
21g.44901496C>ACA410475954ITGB2c.737G>T (p.Cys246Phe)
c.710G>T (p.Cys237Phe)
c.566G>T (p.Cys189Phe)
n.880G>T
c.*564G>T (n.*564G>T)
c.530G>T (p.Cys177Phe)
21g.44901496C>GCA410475955ITGB2c.737G>C (p.Cys246Ser)
c.710G>C (p.Cys237Ser)
c.566G>C (p.Cys189Ser)
n.880G>C
c.*564G>C (n.*564G>C)
c.530G>C (p.Cys177Ser)
21g.44901496C>TCA410475956ITGB2c.737G>A (p.Cys246Tyr)
c.710G>A (p.Cys237Tyr)
c.566G>A (p.Cys189Tyr)
n.880G>A
c.*564G>A (n.*564G>A)
c.530G>A (p.Cys177Tyr)
21g.44901497A>CCA410475957ITGB2c.736T>G (p.Cys246Gly)
c.709T>G (p.Cys237Gly)
c.565T>G (p.Cys189Gly)
n.879T>G
c.*563T>G (n.*563T>G)
c.529T>G (p.Cys177Gly)
21g.44901497A>GCA410475958ITGB2c.736T>C (p.Cys246Arg)
c.709T>C (p.Cys237Arg)
c.565T>C (p.Cys189Arg)
n.879T>C
c.*563T>C (n.*563T>C)
c.529T>C (p.Cys177Arg)
21g.44901497A>TCA410475959ITGB2c.736T>A (p.Cys246Ser)
c.709T>A (p.Cys237Ser)
c.565T>A (p.Cys189Ser)
n.879T>A
c.*563T>A (n.*563T>A)
c.529T>A (p.Cys177Ser)
21g.44901498G>ACA512551657ITGB2c.735C>T (p.Ala245=)
c.708C>T (p.Ala236=)
c.564C>T (p.Ala188=)
n.878C>T
c.*562C>T (n.*562C>T)
c.528C>T (p.Ala176=)
21g.44901498G>CCA512551658ITGB2c.735C>G (p.Ala245=)
c.708C>G (p.Ala236=)
c.564C>G (p.Ala188=)
n.878C>G
c.*562C>G (n.*562C>G)
c.528C>G (p.Ala176=)
21g.44901498G>TCA512551659ITGB2c.735C>A (p.Ala245=)
c.708C>A (p.Ala236=)
c.564C>A (p.Ala188=)
n.878C>A
c.*562C>A (n.*562C>A)
c.528C>A (p.Ala176=)
21g.44901499G>ACA10063123ITGB2c.734C>T (p.Ala245Val)
c.707C>T (p.Ala236Val)
c.563C>T (p.Ala188Val)
n.877C>T
c.*561C>T (n.*561C>T)
c.527C>T (p.Ala176Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.44901499G>CCA410475960ITGB2c.734C>G (p.Ala245Gly)
c.707C>G (p.Ala236Gly)
c.563C>G (p.Ala188Gly)
n.877C>G
c.*561C>G (n.*561C>G)
c.527C>G (p.Ala176Gly)
 gnomAD v4
21g.44901499G=CA2391880179ITGB2c.734C= (p.Ala245=)
c.707C= (p.Ala236=)
c.563C= (p.Ala188=)
n.877C=
c.*561C= (n.*561C=)
c.527C= (p.Ala176=)
21g.44901499G>TCA410475961ITGB2c.734C>A (p.Ala245Asp)
c.707C>A (p.Ala236Asp)
c.563C>A (p.Ala188Asp)
n.877C>A
c.*561C>A (n.*561C>A)
c.527C>A (p.Ala176Asp)
21g.44901500C>ACA410475962ITGB2c.733G>T (p.Ala245Ser)
c.706G>T (p.Ala236Ser)
c.562G>T (p.Ala188Ser)
n.876G>T
c.*560G>T (n.*560G>T)
c.526G>T (p.Ala176Ser)
21g.44901500C=CA2391880180ITGB2c.733G= (p.Ala245=)
c.706G= (p.Ala236=)
c.562G= (p.Ala188=)
n.876G=
c.*560G= (n.*560G=)
c.526G= (p.Ala176=)
21g.44901500C>GCA410475963ITGB2c.733G>C (p.Ala245Pro)
c.706G>C (p.Ala236Pro)
c.562G>C (p.Ala188Pro)
n.876G>C
c.*560G>C (n.*560G>C)
c.526G>C (p.Ala176Pro)
21g.44901500C>TCA10063124ITGB2c.733G>A (p.Ala245Thr)
c.706G>A (p.Ala236Thr)
c.562G>A (p.Ala188Thr)
n.876G>A
c.*560G>A (n.*560G>A)
c.526G>A (p.Ala176Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.44901501G>ACA10063125ITGB2c.732C>T (p.Ala244=)
c.705C>T (p.Ala235=)
c.561C>T (p.Ala187=)
n.875C>T
c.*559C>T (n.*559C>T)
c.525C>T (p.Ala175=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.44901501G>CCA512551661ITGB2c.732C>G (p.Ala244=)
c.705C>G (p.Ala235=)
c.561C>G (p.Ala187=)
n.875C>G
c.*559C>G (n.*559C>G)
c.525C>G (p.Ala175=)
21g.44901501G=CA2391880181ITGB2c.732C= (p.Ala244=)
c.705C= (p.Ala235=)
c.561C= (p.Ala187=)
n.875C=
c.*559C= (n.*559C=)
c.525C= (p.Ala175=)
21g.44901501G>TCA512551660ITGB2c.732C>A (p.Ala244=)
c.705C>A (p.Ala235=)
c.561C>A (p.Ala187=)
n.875C>A
c.*559C>A (n.*559C>A)
c.525C>A (p.Ala175=)
 dbSNP gnomAD v2 gnomAD v4
21g.44901502G>ACA410475964ITGB2c.731C>T (p.Ala244Val)
c.704C>T (p.Ala235Val)
c.560C>T (p.Ala187Val)
n.874C>T
c.*558C>T (n.*558C>T)
c.524C>T (p.Ala175Val)
21g.44901502G>CCA410475965ITGB2c.731C>G (p.Ala244Gly)
c.704C>G (p.Ala235Gly)
c.560C>G (p.Ala187Gly)
n.874C>G
c.*558C>G (n.*558C>G)
c.524C>G (p.Ala175Gly)
21g.44901502G>TCA410475966ITGB2c.731C>A (p.Ala244Asp)
c.704C>A (p.Ala235Asp)
c.560C>A (p.Ala187Asp)
n.874C>A
c.*558C>A (n.*558C>A)
c.524C>A (p.Ala175Asp)
21g.44901503C>ACA410475967ITGB2c.730G>T (p.Ala244Ser)
c.703G>T (p.Ala235Ser)
c.559G>T (p.Ala187Ser)
n.873G>T
c.*557G>T (n.*557G>T)
c.523G>T (p.Ala175Ser)
 COSMIC
21g.44901503C=CA2391880182ITGB2c.730G= (p.Ala244=)
c.703G= (p.Ala235=)
c.559G= (p.Ala187=)
n.873G=
c.*557G= (n.*557G=)
c.523G= (p.Ala175=)
21g.44901503C>GCA410475968ITGB2c.730G>C (p.Ala244Pro)
c.703G>C (p.Ala235Pro)
c.559G>C (p.Ala187Pro)
n.873G>C
c.*557G>C (n.*557G>C)
c.523G>C (p.Ala175Pro)
21g.44901503C>TCA10063126ITGB2c.730G>A (p.Ala244Thr)
c.703G>A (p.Ala235Thr)
c.559G>A (p.Ala187Thr)
n.873G>A
c.*557G>A (n.*557G>A)
c.523G>A (p.Ala175Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44901504G>ACA10063127ITGB2c.729C>T (p.Val243=)
c.702C>T (p.Val234=)
c.558C>T (p.Val186=)
n.872C>T
c.*556C>T (n.*556C>T)
c.522C>T (p.Val174=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44901504G>CCA512551662ITGB2c.729C>G (p.Val243=)
c.702C>G (p.Val234=)
c.558C>G (p.Val186=)
n.872C>G
c.*556C>G (n.*556C>G)
c.522C>G (p.Val174=)
 COSMIC
21g.44901504G=CA2391880183ITGB2c.729C= (p.Val243=)
c.702C= (p.Val234=)
c.558C= (p.Val186=)
n.872C=
c.*556C= (n.*556C=)
c.522C= (p.Val174=)
21g.44901504G>TCA512551663ITGB2c.729C>A (p.Val243=)
c.702C>A (p.Val234=)
c.558C>A (p.Val186=)
n.872C>A
c.*556C>A (n.*556C>A)
c.522C>A (p.Val174=)
21g.44901505A>CCA410475970ITGB2c.728T>G (p.Val243Gly)
c.701T>G (p.Val234Gly)
c.557T>G (p.Val186Gly)
n.871T>G
c.*555T>G (n.*555T>G)
c.521T>G (p.Val174Gly)
21g.44901505A>GCA410475971ITGB2c.728T>C (p.Val243Ala)
c.701T>C (p.Val234Ala)
c.557T>C (p.Val186Ala)
n.871T>C
c.*555T>C (n.*555T>C)
c.521T>C (p.Val174Ala)
21g.44901505A>TCA410475969ITGB2c.728T>A (p.Val243Asp)
c.701T>A (p.Val234Asp)
c.557T>A (p.Val186Asp)
n.871T>A
c.*555T>A (n.*555T>A)
c.521T>A (p.Val174Asp)
21g.44901506C>ACA410475973ITGB2c.727G>T (p.Val243Phe)
c.700G>T (p.Val234Phe)
c.556G>T (p.Val186Phe)
n.870G>T
c.*554G>T (n.*554G>T)
c.520G>T (p.Val174Phe)
 dbSNP gnomAD v3 gnomAD v4
21g.44901506C=CA2391880184ITGB2c.727G= (p.Val243=)
c.700G= (p.Val234=)
c.556G= (p.Val186=)
n.870G=
c.*554G= (n.*554G=)
c.520G= (p.Val174=)
21g.44901506C>GCA410475974ITGB2c.727G>C (p.Val243Leu)
c.700G>C (p.Val234Leu)
c.556G>C (p.Val186Leu)
n.870G>C
c.*554G>C (n.*554G>C)
c.520G>C (p.Val174Leu)
 gnomAD v4
21g.44901506C>TCA410475975ITGB2c.727G>A (p.Val243Ile)
c.700G>A (p.Val234Ile)
c.556G>A (p.Val186Ile)
n.870G>A
c.*554G>A (n.*554G>A)
c.520G>A (p.Val174Ile)
21g.44901507C>ACA410475976ITGB2c.726G>T (p.Gln242His)
c.699G>T (p.Gln233His)
c.555G>T (p.Gln185His)
n.869G>T
c.*553G>T (n.*553G>T)
c.519G>T (p.Gln173His)
21g.44901507C=CA2391880185ITGB2c.726G= (p.Gln242=)
c.699G= (p.Gln233=)
c.555G= (p.Gln185=)
n.869G=
c.*553G= (n.*553G=)
c.519G= (p.Gln173=)
21g.44901507C>GCA410475977ITGB2c.726G>C (p.Gln242His)
c.699G>C (p.Gln233His)
c.555G>C (p.Gln185His)
n.869G>C
c.*553G>C (n.*553G>C)
c.519G>C (p.Gln173His)
 dbSNP
21g.44901507C>TCA512551664ITGB2c.726G>A (p.Gln242=)
c.699G>A (p.Gln233=)
c.555G>A (p.Gln185=)
n.869G>A
c.*553G>A (n.*553G>A)
c.519G>A (p.Gln173=)
21g.44901508T>ACA410475982ITGB2c.725A>T (p.Gln242Leu)
c.698A>T (p.Gln233Leu)
c.554A>T (p.Gln185Leu)
n.868A>T
c.*552A>T (n.*552A>T)
c.518A>T (p.Gln173Leu)
21g.44901508T>CCA410475981ITGB2c.725A>G (p.Gln242Arg)
c.698A>G (p.Gln233Arg)
c.554A>G (p.Gln185Arg)
n.868A>G
c.*552A>G (n.*552A>G)
c.518A>G (p.Gln173Arg)
21g.44901508T>GCA410475980ITGB2c.725A>C (p.Gln242Pro)
c.698A>C (p.Gln233Pro)
c.554A>C (p.Gln185Pro)
n.868A>C
c.*552A>C (n.*552A>C)
c.518A>C (p.Gln173Pro)
21g.44901509G>ACA410475983ITGB2c.724C>T (p.Gln242Ter)
c.697C>T (p.Gln233Ter)
c.553C>T (p.Gln185Ter)
n.867C>T
c.*551C>T (n.*551C>T)
c.517C>T (p.Gln173Ter)
 dbSNP gnomAD v2 gnomAD v4
21g.44901509G>CCA410475984ITGB2c.724C>G (p.Gln242Glu)
c.697C>G (p.Gln233Glu)
c.553C>G (p.Gln185Glu)
n.867C>G
c.*551C>G (n.*551C>G)
c.517C>G (p.Gln173Glu)
21g.44901509G=CA2391880186ITGB2c.724C= (p.Gln242=)
c.697C= (p.Gln233=)
c.553C= (p.Gln185=)
n.867C=
c.*551C= (n.*551C=)
c.517C= (p.Gln173=)
21g.44901509G>TCA410475985ITGB2c.724C>A (p.Gln242Lys)
c.697C>A (p.Gln233Lys)
c.553C>A (p.Gln185Lys)
n.867C>A
c.*551C>A (n.*551C>A)
c.517C>A (p.Gln173Lys)
21g.44901510C>ACA410475986ITGB2c.723G>T (p.Met241Ile)
c.696G>T (p.Met232Ile)
c.552G>T (p.Met184Ile)
n.866G>T
c.*550G>T (n.*550G>T)
c.516G>T (p.Met172Ile)
 dbSNP gnomAD v4
21g.44901510C=CA2391880187ITGB2c.723G= (p.Met241=)
c.696G= (p.Met232=)
c.552G= (p.Met184=)
n.866G=
c.*550G= (n.*550G=)
c.516G= (p.Met172=)
21g.44901510C>GCA410475987ITGB2c.723G>C (p.Met241Ile)
c.696G>C (p.Met232Ile)
c.552G>C (p.Met184Ile)
n.866G>C
c.*550G>C (n.*550G>C)
c.516G>C (p.Met172Ile)
21g.44901510C>TCA410475988ITGB2c.723G>A (p.Met241Ile)
c.696G>A (p.Met232Ile)
c.552G>A (p.Met184Ile)
n.866G>A
c.*550G>A (n.*550G>A)
c.516G>A (p.Met172Ile)
21g.44901511A>CCA410475989ITGB2c.722T>G (p.Met241Arg)
c.695T>G (p.Met232Arg)
c.551T>G (p.Met184Arg)
n.865T>G
c.*549T>G (n.*549T>G)
c.515T>G (p.Met172Arg)
21g.44901511A>GCA410475991ITGB2c.722T>C (p.Met241Thr)
c.695T>C (p.Met232Thr)
c.551T>C (p.Met184Thr)
n.865T>C
c.*549T>C (n.*549T>C)
c.515T>C (p.Met172Thr)
 gnomAD v4
21g.44901511A>TCA410475990ITGB2c.722T>A (p.Met241Lys)
c.695T>A (p.Met232Lys)
c.551T>A (p.Met184Lys)
n.865T>A
c.*549T>A (n.*549T>A)
c.515T>A (p.Met172Lys)
 gnomAD v4
21g.44901512T>ACA410475992ITGB2c.721A>T (p.Met241Leu)
c.694A>T (p.Met232Leu)
c.550A>T (p.Met184Leu)
n.864A>T
c.*548A>T (n.*548A>T)
c.514A>T (p.Met172Leu)
 gnomAD v4
21g.44901512T>CCA410475993ITGB2c.721A>G (p.Met241Val)
c.694A>G (p.Met232Val)
c.550A>G (p.Met184Val)
n.864A>G
c.*548A>G (n.*548A>G)
c.514A>G (p.Met172Val)
21g.44901512T>GCA410475994ITGB2c.721A>C (p.Met241Leu)
c.694A>C (p.Met232Leu)
c.550A>C (p.Met184Leu)
n.864A>C
c.*548A>C (n.*548A>C)
c.514A>C (p.Met172Leu)
21g.44901513C>ACA410475995ITGB2c.720G>T (p.Met240Ile)
c.693G>T (p.Met231Ile)
c.549G>T (p.Met183Ile)
n.863G>T
c.*547G>T (n.*547G>T)
c.513G>T (p.Met171Ile)
21g.44901513C>GCA410475996ITGB2c.720G>C (p.Met240Ile)
c.693G>C (p.Met231Ile)
c.549G>C (p.Met183Ile)
n.863G>C
c.*547G>C (n.*547G>C)
c.513G>C (p.Met171Ile)
21g.44901513C>TCA410475997ITGB2c.720G>A (p.Met240Ile)
c.693G>A (p.Met231Ile)
c.549G>A (p.Met183Ile)
n.863G>A
c.*547G>A (n.*547G>A)
c.513G>A (p.Met171Ile)
 gnomAD v4
21g.44901514A=CA2391880188ITGB2c.719T= (p.Met240=)
c.692T= (p.Met231=)
c.548T= (p.Met183=)
n.862T=
c.*546T= (n.*546T=)
c.512T= (p.Met171=)
21g.44901514A>CCA410475998ITGB2c.719T>G (p.Met240Arg)
c.692T>G (p.Met231Arg)
c.548T>G (p.Met183Arg)
n.862T>G
c.*546T>G (n.*546T>G)
c.512T>G (p.Met171Arg)
21g.44901514A>GCA410475999ITGB2c.719T>C (p.Met240Thr)
c.692T>C (p.Met231Thr)
c.548T>C (p.Met183Thr)
n.862T>C
c.*546T>C (n.*546T>C)
c.512T>C (p.Met171Thr)
 dbSNP gnomAD v2 gnomAD v4
21g.44901514A>TCA410476000ITGB2c.719T>A (p.Met240Lys)
c.692T>A (p.Met231Lys)
c.548T>A (p.Met183Lys)
n.862T>A
c.*546T>A (n.*546T>A)
c.512T>A (p.Met171Lys)
 gnomAD v4
21g.44901515T>ACA410476001ITGB2c.718A>T (p.Met240Leu)
c.691A>T (p.Met231Leu)
c.547A>T (p.Met183Leu)
n.861A>T
c.*545A>T (n.*545A>T)
c.511A>T (p.Met171Leu)
21g.44901515T>CCA410476002ITGB2c.718A>G (p.Met240Val)
c.691A>G (p.Met231Val)
c.547A>G (p.Met183Val)
n.861A>G
c.*545A>G (n.*545A>G)
c.511A>G (p.Met171Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.44901515T>GCA410476003ITGB2c.718A>C (p.Met240Leu)
c.691A>C (p.Met231Leu)
c.547A>C (p.Met183Leu)
n.861A>C
c.*545A>C (n.*545A>C)
c.511A>C (p.Met171Leu)
21g.44901515T=CA2391880189ITGB2c.718A= (p.Met240=)
c.691A= (p.Met231=)
c.547A= (p.Met183=)
n.861A=
c.*545A= (n.*545A=)
c.511A= (p.Met171=)
21g.44901516G>ACA512551665ITGB2c.717C>T (p.Ala239=)
c.690C>T (p.Ala230=)
c.546C>T (p.Ala182=)
n.860C>T
c.*544C>T (n.*544C>T)
c.510C>T (p.Ala170=)
21g.44901516G>CCA512551666ITGB2c.717C>G (p.Ala239=)
c.690C>G (p.Ala230=)
c.546C>G (p.Ala182=)
n.860C>G
c.*544C>G (n.*544C>G)
c.510C>G (p.Ala170=)
21g.44901516G>TCA512551667ITGB2c.717C>A (p.Ala239=)
c.690C>A (p.Ala230=)
c.546C>A (p.Ala182=)
n.860C>A
c.*544C>A (n.*544C>A)
c.510C>A (p.Ala170=)
21g.44901517G>ACA410476004ITGB2c.716C>T (p.Ala239Val)
c.689C>T (p.Ala230Val)
c.545C>T (p.Ala182Val)
n.859C>T
c.*543C>T (n.*543C>T)
c.509C>T (p.Ala170Val)
 gnomAD v4
21g.44901517G>CCA410476006ITGB2c.716C>G (p.Ala239Gly)
c.689C>G (p.Ala230Gly)
c.545C>G (p.Ala182Gly)
n.859C>G
c.*543C>G (n.*543C>G)
c.509C>G (p.Ala170Gly)
 gnomAD v4
21g.44901517G>TCA410476005ITGB2c.716C>A (p.Ala239Asp)
c.689C>A (p.Ala230Asp)
c.545C>A (p.Ala182Asp)
n.859C>A
c.*543C>A (n.*543C>A)
c.509C>A (p.Ala170Asp)
21g.44901518C>ACA410476007ITGB2c.715G>T (p.Ala239Ser)
c.688G>T (p.Ala230Ser)
c.544G>T (p.Ala182Ser)
n.858G>T
c.*542G>T (n.*542G>T)
c.508G>T (p.Ala170Ser)
21g.44901518C=CA2391880190ITGB2c.715G= (p.Ala239=)
c.688G= (p.Ala230=)
c.544G= (p.Ala182=)
n.858G=
c.*542G= (n.*542G=)
c.508G= (p.Ala170=)
21g.44901518C>GCA410476008ITGB2c.715G>C (p.Ala239Pro)
c.688G>C (p.Ala230Pro)
c.544G>C (p.Ala182Pro)
n.858G>C
c.*542G>C (n.*542G>C)
c.508G>C (p.Ala170Pro)
21g.44901518C>TCA219188ITGB2c.715G>A (p.Ala239Thr)
c.688G>A (p.Ala230Thr)
c.544G>A (p.Ala182Thr)
n.858G>A
c.*542G>A (n.*542G>A)
c.508G>A (p.Ala170Thr)
 ClinVar dbSNP gnomAD v4
21g.44901519G>ACA10063128ITGB2c.714C>T (p.Asp238=)
c.687C>T (p.Asp229=)
c.543C>T (p.Asp181=)
n.857C>T
c.*541C>T (n.*541C>T)
c.507C>T (p.Asp169=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44901519G>CCA410476010ITGB2c.714C>G (p.Asp238Glu)
c.687C>G (p.Asp229Glu)
c.543C>G (p.Asp181Glu)
n.857C>G
c.*541C>G (n.*541C>G)
c.507C>G (p.Asp169Glu)
 gnomAD v4
21g.44901519G=CA2391880191ITGB2c.714C= (p.Asp238=)
c.687C= (p.Asp229=)
c.543C= (p.Asp181=)
n.857C=
c.*541C= (n.*541C=)
c.507C= (p.Asp169=)
21g.44901519G>TCA410476009ITGB2c.714C>A (p.Asp238Glu)
c.687C>A (p.Asp229Glu)
c.543C>A (p.Asp181Glu)
n.857C>A
c.*541C>A (n.*541C>A)
c.507C>A (p.Asp169Glu)
21g.44901520T>ACA410476011ITGB2c.713A>T (p.Asp238Val)
c.686A>T (p.Asp229Val)
c.542A>T (p.Asp181Val)
n.856A>T
c.*540A>T (n.*540A>T)
c.506A>T (p.Asp169Val)
21g.44901520T>CCA410476013ITGB2c.713A>G (p.Asp238Gly)
c.686A>G (p.Asp229Gly)
c.542A>G (p.Asp181Gly)
n.856A>G
c.*540A>G (n.*540A>G)
c.506A>G (p.Asp169Gly)
21g.44901520T>GCA410476012ITGB2c.713A>C (p.Asp238Ala)
c.686A>C (p.Asp229Ala)
c.542A>C (p.Asp181Ala)
n.856A>C
c.*540A>C (n.*540A>C)
c.506A>C (p.Asp169Ala)
21g.44901521C>ACA410476014ITGB2c.712G>T (p.Asp238Tyr)
c.685G>T (p.Asp229Tyr)
c.541G>T (p.Asp181Tyr)
n.855G>T
c.*539G>T (n.*539G>T)
c.505G>T (p.Asp169Tyr)
 gnomAD v4
21g.44901521C>GCA410476016ITGB2c.712G>C (p.Asp238His)
c.685G>C (p.Asp229His)
c.541G>C (p.Asp181His)
n.855G>C
c.*539G>C (n.*539G>C)
c.505G>C (p.Asp169His)
21g.44901521C>TCA410476015ITGB2c.712G>A (p.Asp238Asn)
c.685G>A (p.Asp229Asn)
c.541G>A (p.Asp181Asn)
n.855G>A
c.*539G>A (n.*539G>A)
c.505G>A (p.Asp169Asn)
21g.44901522C>ACA512551668ITGB2c.711G>T (p.Leu237=)
c.684G>T (p.Leu228=)
c.540G>T (p.Leu180=)
n.854G>T
c.*538G>T (n.*538G>T)
c.504G>T (p.Leu168=)
21g.44901522C=CA2391880192ITGB2c.711G= (p.Leu237=)
c.684G= (p.Leu228=)
c.540G= (p.Leu180=)
n.854G=
c.*538G= (n.*538G=)
c.504G= (p.Leu168=)
21g.44901522C>GCA512551669ITGB2c.711G>C (p.Leu237=)
c.684G>C (p.Leu228=)
c.540G>C (p.Leu180=)
n.854G>C
c.*538G>C (n.*538G>C)
c.504G>C (p.Leu168=)
21g.44901522C>TCA10063129ITGB2c.711G>A (p.Leu237=)
c.684G>A (p.Leu228=)
c.540G>A (p.Leu180=)
n.854G>A
c.*538G>A (n.*538G>A)
c.504G>A (p.Leu168=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44901523A>CCA410476017ITGB2c.710T>G (p.Leu237Arg)
c.683T>G (p.Leu228Arg)
c.539T>G (p.Leu180Arg)
n.853T>G
c.*537T>G (n.*537T>G)
c.503T>G (p.Leu168Arg)
21g.44901523A>GCA410476018ITGB2c.710T>C (p.Leu237Pro)
c.683T>C (p.Leu228Pro)
c.539T>C (p.Leu180Pro)
n.853T>C
c.*537T>C (n.*537T>C)
c.503T>C (p.Leu168Pro)
21g.44901523A>TCA410476019ITGB2c.710T>A (p.Leu237Gln)
c.683T>A (p.Leu228Gln)
c.539T>A (p.Leu180Gln)
n.853T>A
c.*537T>A (n.*537T>A)
c.503T>A (p.Leu168Gln)
21g.44901524G>ACA512551670ITGB2c.709C>T (p.Leu237=)
c.682C>T (p.Leu228=)
c.538C>T (p.Leu180=)
n.852C>T
c.*536C>T (n.*536C>T)
c.502C>T (p.Leu168=)
21g.44901524G>CCA410476020ITGB2c.709C>G (p.Leu237Val)
c.682C>G (p.Leu228Val)
c.538C>G (p.Leu180Val)
n.852C>G
c.*536C>G (n.*536C>G)
c.502C>G (p.Leu168Val)
21g.44901524G>TCA410476021ITGB2c.709C>A (p.Leu237Met)
c.682C>A (p.Leu228Met)
c.538C>A (p.Leu180Met)
n.852C>A
c.*536C>A (n.*536C>A)
c.502C>A (p.Leu168Met)
21g.44901525C>ACA512551671ITGB2c.708G>T (p.Gly236=)
c.681G>T (p.Gly227=)
c.537G>T (p.Gly179=)
n.851G>T
c.*535G>T (n.*535G>T)
c.501G>T (p.Gly167=)
 dbSNP gnomAD v2 gnomAD v4
21g.44901525C=CA2391880193ITGB2c.708G= (p.Gly236=)
c.681G= (p.Gly227=)
c.537G= (p.Gly179=)
n.851G=
c.*535G= (n.*535G=)
c.501G= (p.Gly167=)
21g.44901525C>GCA512551672ITGB2c.708G>C (p.Gly236=)
c.681G>C (p.Gly227=)
c.537G>C (p.Gly179=)
n.851G>C
c.*535G>C (n.*535G>C)
c.501G>C (p.Gly167=)
 COSMIC
21g.44901525C>TCA512551673ITGB2c.708G>A (p.Gly236=)
c.681G>A (p.Gly227=)
c.537G>A (p.Gly179=)
n.851G>A
c.*535G>A (n.*535G>A)
c.501G>A (p.Gly167=)
21g.44901526C>ACA410476022ITGB2c.707G>T (p.Gly236Val)
c.680G>T (p.Gly227Val)
c.536G>T (p.Gly179Val)
n.850G>T
c.*534G>T (n.*534G>T)
c.500G>T (p.Gly167Val)
21g.44901526C>GCA410476023ITGB2c.707G>C (p.Gly236Ala)
c.680G>C (p.Gly227Ala)
c.536G>C (p.Gly179Ala)
n.850G>C
c.*534G>C (n.*534G>C)
c.500G>C (p.Gly167Ala)
21g.44901526C>TCA410476024ITGB2c.707G>A (p.Gly236Glu)
c.680G>A (p.Gly227Glu)
c.536G>A (p.Gly179Glu)
n.850G>A
c.*534G>A (n.*534G>A)
c.500G>A (p.Gly167Glu)
 gnomAD v4
21g.44901527C>ACA410476025ITGB2c.706G>T (p.Gly236Trp)
c.679G>T (p.Gly227Trp)
c.535G>T (p.Gly179Trp)
n.849G>T
c.*533G>T (n.*533G>T)
c.499G>T (p.Gly167Trp)
21g.44901527C=CA2391880194ITGB2c.706G= (p.Gly236=)
c.679G= (p.Gly227=)
c.535G= (p.Gly179=)
n.849G=
c.*533G= (n.*533G=)
c.499G= (p.Gly167=)
21g.44901527C>GCA410476026ITGB2c.706G>C (p.Gly236Arg)
c.679G>C (p.Gly227Arg)
c.535G>C (p.Gly179Arg)
n.849G>C
c.*533G>C (n.*533G>C)
c.499G>C (p.Gly167Arg)
21g.44901527C>TCA249775ITGB2c.706G>A (p.Gly236Arg)
c.679G>A (p.Gly227Arg)
c.535G>A (p.Gly179Arg)
n.849G>A
c.*533G>A (n.*533G>A)
c.499G>A (p.Gly167Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.44901528A>CCA512551674ITGB2c.705T>G (p.Gly235=)
c.678T>G (p.Gly226=)
c.534T>G (p.Gly178=)
n.848T>G
c.*532T>G (n.*532T>G)
c.498T>G (p.Gly166=)
21g.44901528A>GCA512551675ITGB2c.705T>C (p.Gly235=)
c.678T>C (p.Gly226=)
c.534T>C (p.Gly178=)
n.848T>C
c.*532T>C (n.*532T>C)
c.498T>C (p.Gly166=)
 gnomAD v4
21g.44901528A>TCA512551676ITGB2c.705T>A (p.Gly235=)
c.678T>A (p.Gly226=)
c.534T>A (p.Gly178=)
n.848T>A
c.*532T>A (n.*532T>A)
c.498T>A (p.Gly166=)
21g.44901529C>ACA410476027ITGB2c.704G>T (p.Gly235Val)
c.677G>T (p.Gly226Val)
c.533G>T (p.Gly178Val)
n.847G>T
c.*531G>T (n.*531G>T)
c.497G>T (p.Gly166Val)
21g.44901529C>GCA410476029ITGB2c.704G>C (p.Gly235Ala)
c.677G>C (p.Gly226Ala)
c.533G>C (p.Gly178Ala)
n.847G>C
c.*531G>C (n.*531G>C)
c.497G>C (p.Gly166Ala)
21g.44901529C>TCA410476028ITGB2c.704G>A (p.Gly235Asp)
c.677G>A (p.Gly226Asp)
c.533G>A (p.Gly178Asp)
n.847G>A
c.*531G>A (n.*531G>A)
c.497G>A (p.Gly166Asp)
21g.44901530C>ACA410476030ITGB2c.703G>T (p.Gly235Cys)
c.676G>T (p.Gly226Cys)
c.532G>T (p.Gly178Cys)
n.846G>T
c.*530G>T (n.*530G>T)
c.496G>T (p.Gly166Cys)
21g.44901530C>GCA410476031ITGB2c.703G>C (p.Gly235Arg)
c.676G>C (p.Gly226Arg)
c.532G>C (p.Gly178Arg)
n.846G>C
c.*530G>C (n.*530G>C)
c.496G>C (p.Gly166Arg)
21g.44901530C>TCA410476032ITGB2c.703G>A (p.Gly235Ser)
c.676G>A (p.Gly226Ser)
c.532G>A (p.Gly178Ser)
n.846G>A
c.*530G>A (n.*530G>A)
c.496G>A (p.Gly166Ser)
21g.44901531C>ACA410476033ITGB2c.702G>T (p.Glu234Asp)
c.675G>T (p.Glu225Asp)
c.531G>T (p.Glu177Asp)
n.845G>T
c.*529G>T (n.*529G>T)
c.495G>T (p.Glu165Asp)
21g.44901531C=CA2391880195ITGB2c.702G= (p.Glu234=)
c.675G= (p.Glu225=)
c.531G= (p.Glu177=)
n.845G=
c.*529G= (n.*529G=)
c.495G= (p.Glu165=)
21g.44901531C>GCA410476034ITGB2c.702G>C (p.Glu234Asp)
c.675G>C (p.Glu225Asp)
c.531G>C (p.Glu177Asp)
n.845G>C
c.*529G>C (n.*529G>C)
c.495G>C (p.Glu165Asp)
21g.44901531C>TCA321851379ITGB2c.702G>A (p.Glu234=)
c.675G>A (p.Glu225=)
c.531G>A (p.Glu177=)
n.845G>A
c.*529G>A (n.*529G>A)
c.495G>A (p.Glu165=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.44901532T>ACA410476035ITGB2c.701A>T (p.Glu234Val)
c.674A>T (p.Glu225Val)
c.530A>T (p.Glu177Val)
n.844A>T
c.*528A>T (n.*528A>T)
c.494A>T (p.Glu165Val)
21g.44901532T>CCA410476036ITGB2c.701A>G (p.Glu234Gly)
c.674A>G (p.Glu225Gly)
c.530A>G (p.Glu177Gly)
n.844A>G
c.*528A>G (n.*528A>G)
c.494A>G (p.Glu165Gly)
21g.44901532T>GCA410476037ITGB2c.701A>C (p.Glu234Ala)
c.674A>C (p.Glu225Ala)
c.530A>C (p.Glu177Ala)
n.844A>C
c.*528A>C (n.*528A>C)
c.494A>C (p.Glu165Ala)
21g.44901533C>ACA410476040ITGB2c.700G>T (p.Glu234Ter)
c.673G>T (p.Glu225Ter)
c.529G>T (p.Glu177Ter)
n.843G>T
c.*527G>T (n.*527G>T)
c.493G>T (p.Glu165Ter)
21g.44901533C=CA2391880196ITGB2c.700G= (p.Glu234=)
c.673G= (p.Glu225=)
c.529G= (p.Glu177=)
n.843G=
c.*527G= (n.*527G=)
c.493G= (p.Glu165=)
21g.44901533C>GCA410476039ITGB2c.700G>C (p.Glu234Gln)
c.673G>C (p.Glu225Gln)
c.529G>C (p.Glu177Gln)
n.843G>C
c.*527G>C (n.*527G>C)
c.493G>C (p.Glu165Gln)
 COSMIC
21g.44901533C>TCA410476038ITGB2c.700G>A (p.Glu234Lys)
c.673G>A (p.Glu225Lys)
c.529G>A (p.Glu177Lys)
n.843G>A
c.*527G>A (n.*527G>A)
c.493G>A (p.Glu165Lys)
 dbSNP
21g.44901534G>ACA10063130ITGB2c.699C>T (p.Pro233=)
c.672C>T (p.Pro224=)
c.528C>T (p.Pro176=)
n.842C>T
c.*526C>T (n.*526C>T)
c.492C>T (p.Pro164=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.44901534G>CCA10063131ITGB2c.699C>G (p.Pro233=)
c.672C>G (p.Pro224=)
c.528C>G (p.Pro176=)
n.842C>G
c.*526C>G (n.*526C>G)
c.492C>G (p.Pro164=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.44901534G=CA2391880197ITGB2c.699C= (p.Pro233=)
c.672C= (p.Pro224=)
c.528C= (p.Pro176=)
n.842C=
c.*526C= (n.*526C=)
c.492C= (p.Pro164=)
21g.44901534G>TCA512551677ITGB2c.699C>A (p.Pro233=)
c.672C>A (p.Pro224=)
c.528C>A (p.Pro176=)
n.842C>A
c.*526C>A (n.*526C>A)
c.492C>A (p.Pro164=)
21g.44901535G>ACA410476041ITGB2c.698C>T (p.Pro233Leu)
c.671C>T (p.Pro224Leu)
c.527C>T (p.Pro176Leu)
n.841C>T
c.*525C>T (n.*525C>T)
c.491C>T (p.Pro164Leu)
21g.44901535G>CCA410476042ITGB2c.698C>G (p.Pro233Arg)
c.671C>G (p.Pro224Arg)
c.527C>G (p.Pro176Arg)
n.841C>G
c.*525C>G (n.*525C>G)
c.491C>G (p.Pro164Arg)
21g.44901535G>TCA410476043ITGB2c.698C>A (p.Pro233His)
c.671C>A (p.Pro224His)
c.527C>A (p.Pro176His)
n.841C>A
c.*525C>A (n.*525C>A)
c.491C>A (p.Pro164His)
21g.44901536G>ACA410476044ITGB2c.697C>T (p.Pro233Ser)
c.670C>T (p.Pro224Ser)
c.526C>T (p.Pro176Ser)
n.840C>T
c.*524C>T (n.*524C>T)
c.490C>T (p.Pro164Ser)
21g.44901536G>CCA410476045ITGB2c.697C>G (p.Pro233Ala)
c.670C>G (p.Pro224Ala)
c.526C>G (p.Pro176Ala)
n.840C>G
c.*524C>G (n.*524C>G)
c.490C>G (p.Pro164Ala)
21g.44901536G>TCA410476046ITGB2c.697C>A (p.Pro233Thr)
c.670C>A (p.Pro224Thr)
c.526C>A (p.Pro176Thr)
n.840C>A
c.*524C>A (n.*524C>A)
c.490C>A (p.Pro164Thr)
21g.44901537T>ACA512551678ITGB2c.696A>T (p.Ala232=)
c.669A>T (p.Ala223=)
c.525A>T (p.Ala175=)
n.839A>T
c.*523A>T (n.*523A>T)
c.489A>T (p.Ala163=)
21g.44901537T>CCA512551679ITGB2c.696A>G (p.Ala232=)
c.669A>G (p.Ala223=)
c.525A>G (p.Ala175=)
n.839A>G
c.*523A>G (n.*523A>G)
c.489A>G (p.Ala163=)
21g.44901537T>GCA512551680ITGB2c.696A>C (p.Ala232=)
c.669A>C (p.Ala223=)
c.525A>C (p.Ala175=)
n.839A>C
c.*523A>C (n.*523A>C)
c.489A>C (p.Ala163=)
 dbSNP
21g.44901537T=CA2391880198ITGB2c.696A= (p.Ala232=)
c.669A= (p.Ala223=)
c.525A= (p.Ala175=)
n.839A=
c.*523A= (n.*523A=)
c.489A= (p.Ala163=)
21g.44901538G>ACA410476047ITGB2c.695C>T (p.Ala232Val)
c.668C>T (p.Ala223Val)
c.524C>T (p.Ala175Val)
n.838C>T
c.*522C>T (n.*522C>T)
c.488C>T (p.Ala163Val)
 dbSNP
21g.44901538G>CCA410476048ITGB2c.695C>G (p.Ala232Gly)
c.668C>G (p.Ala223Gly)
c.524C>G (p.Ala175Gly)
n.838C>G
c.*522C>G (n.*522C>G)
c.488C>G (p.Ala163Gly)
21g.44901538G=CA2391880199ITGB2c.695C= (p.Ala232=)
c.668C= (p.Ala223=)
c.524C= (p.Ala175=)
n.838C=
c.*522C= (n.*522C=)
c.488C= (p.Ala163=)
21g.44901538G>TCA410476049ITGB2c.695C>A (p.Ala232Glu)
c.668C>A (p.Ala223Glu)
c.524C>A (p.Ala175Glu)
n.838C>A
c.*522C>A (n.*522C>A)
c.488C>A (p.Ala163Glu)
 gnomAD v4
21g.44901539C>ACA410476052ITGB2c.694G>T (p.Ala232Ser)
c.667G>T (p.Ala223Ser)
c.523G>T (p.Ala175Ser)
n.837G>T
c.*521G>T (n.*521G>T)
c.487G>T (p.Ala163Ser)
21g.44901539C>GCA410476051ITGB2c.694G>C (p.Ala232Pro)
c.667G>C (p.Ala223Pro)
c.523G>C (p.Ala175Pro)
n.837G>C
c.*521G>C (n.*521G>C)
c.487G>C (p.Ala163Pro)
21g.44901539C>TCA410476050ITGB2c.694G>A (p.Ala232Thr)
c.667G>A (p.Ala223Thr)
c.523G>A (p.Ala175Thr)
n.837G>A
c.*521G>A (n.*521G>A)
c.487G>A (p.Ala163Thr)
 gnomAD v4
21g.44901540A=CA2391880200ITGB2c.693T= (p.Asp231=)
c.666T= (p.Asp222=)
c.522T= (p.Asp174=)
n.836T=
c.*520T= (n.*520T=)
c.486T= (p.Asp162=)
21g.44901540A>CCA410476053ITGB2c.693T>G (p.Asp231Glu)
c.666T>G (p.Asp222Glu)
c.522T>G (p.Asp174Glu)
n.836T>G
c.*520T>G (n.*520T>G)
c.486T>G (p.Asp162Glu)
 dbSNP
21g.44901540A>GCA321851385ITGB2c.693T>C (p.Asp231=)
c.666T>C (p.Asp222=)
c.522T>C (p.Asp174=)
n.836T>C
c.*520T>C (n.*520T>C)
c.486T>C (p.Asp162=)
 dbSNP
21g.44901540A>TCA410476054ITGB2c.693T>A (p.Asp231Glu)
c.666T>A (p.Asp222Glu)
c.522T>A (p.Asp174Glu)
n.836T>A
c.*520T>A (n.*520T>A)
c.486T>A (p.Asp162Glu)
21g.44901541T>ACA410476055ITGB2c.692A>T (p.Asp231Val)
c.665A>T (p.Asp222Val)
c.521A>T (p.Asp174Val)
n.835A>T
c.*519A>T (n.*519A>T)
c.485A>T (p.Asp162Val)
21g.44901541T>CCA410476056ITGB2c.692A>G (p.Asp231Gly)
c.665A>G (p.Asp222Gly)
c.521A>G (p.Asp174Gly)
n.835A>G
c.*519A>G (n.*519A>G)
c.485A>G (p.Asp162Gly)
21g.44901541T>GCA410476057ITGB2c.692A>C (p.Asp231Ala)
c.665A>C (p.Asp222Ala)
c.521A>C (p.Asp174Ala)
n.835A>C
c.*519A>C (n.*519A>C)
c.485A>C (p.Asp162Ala)
21g.44901542C>ACA410476058ITGB2c.691G>T (p.Asp231Tyr)
c.664G>T (p.Asp222Tyr)
c.520G>T (p.Asp174Tyr)
n.834G>T
c.*518G>T (n.*518G>T)
c.484G>T (p.Asp162Tyr)
 COSMIC
21g.44901542C>GCA410476059ITGB2c.691G>C (p.Asp231His)
c.664G>C (p.Asp222His)
c.520G>C (p.Asp174His)
n.834G>C
c.*518G>C (n.*518G>C)
c.484G>C (p.Asp162His)
21g.44901542C>TCA410476060ITGB2c.691G>A (p.Asp231Asn)
c.664G>A (p.Asp222Asn)
c.520G>A (p.Asp174Asn)
n.834G>A
c.*518G>A (n.*518G>A)
c.484G>A (p.Asp162Asn)
 COSMIC
21g.44901543C>ACA512551683ITGB2c.690G>T (p.Leu230=)
c.663G>T (p.Leu221=)
c.519G>T (p.Leu173=)
n.833G>T
c.*517G>T (n.*517G>T)
c.483G>T (p.Leu161=)
21g.44901543C=CA2391880201ITGB2c.690G= (p.Leu230=)
c.663G= (p.Leu221=)
c.519G= (p.Leu173=)
n.833G=
c.*517G= (n.*517G=)
c.483G= (p.Leu161=)
21g.44901543C>GCA512551682ITGB2c.690G>C (p.Leu230=)
c.663G>C (p.Leu221=)
c.519G>C (p.Leu173=)
n.833G>C
c.*517G>C (n.*517G>C)
c.483G>C (p.Leu161=)
 dbSNP gnomAD v2 gnomAD v4
21g.44901543C>TCA512551681ITGB2c.690G>A (p.Leu230=)
c.663G>A (p.Leu221=)
c.519G>A (p.Leu173=)
n.833G>A
c.*517G>A (n.*517G>A)
c.483G>A (p.Leu161=)
 gnomAD v4
21g.44901544A>CCA410476061ITGB2c.689T>G (p.Leu230Arg)
c.662T>G (p.Leu221Arg)
c.518T>G (p.Leu173Arg)
n.832T>G
c.*516T>G (n.*516T>G)
c.482T>G (p.Leu161Arg)
21g.44901544A>GCA410476062ITGB2c.689T>C (p.Leu230Pro)
c.662T>C (p.Leu221Pro)
c.518T>C (p.Leu173Pro)
n.832T>C
c.*516T>C (n.*516T>C)
c.482T>C (p.Leu161Pro)
21g.44901544A>TCA410476063ITGB2c.689T>A (p.Leu230Gln)
c.662T>A (p.Leu221Gln)
c.518T>A (p.Leu173Gln)
n.832T>A
c.*516T>A (n.*516T>A)
c.482T>A (p.Leu161Gln)
21g.44901545G>ACA512551684ITGB2c.688C>T (p.Leu230=)
c.661C>T (p.Leu221=)
c.517C>T (p.Leu173=)
n.831C>T
c.*515C>T (n.*515C>T)
c.481C>T (p.Leu161=)
21g.44901545G>CCA410476064ITGB2c.688C>G (p.Leu230Val)
c.661C>G (p.Leu221Val)
c.517C>G (p.Leu173Val)
n.831C>G
c.*515C>G (n.*515C>G)
c.481C>G (p.Leu161Val)
 gnomAD v4
21g.44901545G>TCA410476065ITGB2c.688C>A (p.Leu230Met)
c.661C>A (p.Leu221Met)
c.517C>A (p.Leu173Met)
n.831C>A
c.*515C>A (n.*515C>A)
c.481C>A (p.Leu161Met)
21g.44901546G>ACA512551685ITGB2c.687C>T (p.Asn229=)
c.660C>T (p.Asn220=)
c.516C>T (p.Asn172=)
n.830C>T
c.*514C>T (n.*514C>T)
c.480C>T (p.Asn160=)
21g.44901546G>CCA410476066ITGB2c.687C>G (p.Asn229Lys)
c.660C>G (p.Asn220Lys)
c.516C>G (p.Asn172Lys)
n.830C>G
c.*514C>G (n.*514C>G)
c.480C>G (p.Asn160Lys)
21g.44901546G>TCA410476067ITGB2c.687C>A (p.Asn229Lys)
c.660C>A (p.Asn220Lys)
c.516C>A (p.Asn172Lys)
n.830C>A
c.*514C>A (n.*514C>A)
c.480C>A (p.Asn160Lys)
21g.44901547T>ACA410476068ITGB2c.686A>T (p.Asn229Ile)
c.659A>T (p.Asn220Ile)
c.515A>T (p.Asn172Ile)
n.829A>T
c.*513A>T (n.*513A>T)
c.479A>T (p.Asn160Ile)
21g.44901547T>CCA410476069ITGB2c.686A>G (p.Asn229Ser)
c.659A>G (p.Asn220Ser)
c.515A>G (p.Asn172Ser)
n.829A>G
c.*513A>G (n.*513A>G)
c.479A>G (p.Asn160Ser)
 dbSNP
21g.44901547T>GCA410476070ITGB2c.686A>C (p.Asn229Thr)
c.659A>C (p.Asn220Thr)
c.515A>C (p.Asn172Thr)
n.829A>C
c.*513A>C (n.*513A>C)
c.479A>C (p.Asn160Thr)
21g.44901547T=CA2391880202ITGB2c.686A= (p.Asn229=)
c.659A= (p.Asn220=)
c.515A= (p.Asn172=)
n.829A=
c.*513A= (n.*513A=)
c.479A= (p.Asn160=)
21g.44901548T>ACA410476071ITGB2c.685A>T (p.Asn229Tyr)
c.658A>T (p.Asn220Tyr)
c.514A>T (p.Asn172Tyr)
n.828A>T
c.*512A>T (n.*512A>T)
c.478A>T (p.Asn160Tyr)
21g.44901548T>CCA410476072ITGB2c.685A>G (p.Asn229Asp)
c.658A>G (p.Asn220Asp)
c.514A>G (p.Asn172Asp)
n.828A>G
c.*512A>G (n.*512A>G)
c.478A>G (p.Asn160Asp)
21g.44901548T>GCA410476073ITGB2c.685A>C (p.Asn229His)
c.658A>C (p.Asn220His)
c.514A>C (p.Asn172His)
n.828A>C
c.*512A>C (n.*512A>C)
c.478A>C (p.Asn160His)

Number of alleles fetched