Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44374614A=CA2261365318ITGA2Bc.2943+45T= (n.2943+45T=)
c.2374+45T=
c.253+1219T=
c.37+45T=
n.2499T=
c.2842-144T= (n.2842-144T=)
17g.44374614A>GCA626224463ITGA2Bc.2943+45T>C (n.2943+45T>C)
c.2374+45T>C
c.253+1219T>C
c.37+45T>C
n.2499T>C
c.2842-144T>C (n.2842-144T>C)
 dbSNP gnomAD v2 gnomAD v4
17g.44374615T>ACA8602510ITGA2Bc.2943+44A>T (n.2943+44A>T)
c.2374+44A>T
c.253+1218A>T
c.37+44A>T
n.2498A>T
c.2842-145A>T (n.2842-145A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374615T>CCA772285311ITGA2Bc.2943+44A>G (n.2943+44A>G)
c.2374+44A>G
c.253+1218A>G
c.37+44A>G
n.2498A>G
c.2842-145A>G (n.2842-145A>G)
 dbSNP
17g.44374615T=CA2261365319ITGA2Bc.2943+44A= (n.2943+44A=)
c.2374+44A=
c.253+1218A=
c.37+44A=
n.2498A=
c.2842-145A= (n.2842-145A=)
17g.44374616G>ACA8602511ITGA2Bc.2943+43C>T (n.2943+43C>T)
c.2374+43C>T
c.253+1217C>T
c.37+43C>T
n.2497C>T
c.2842-146C>T (n.2842-146C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374616G=CA2261365320ITGA2Bc.2943+43C= (n.2943+43C=)
c.2374+43C=
c.253+1217C=
c.37+43C=
n.2497C=
c.2842-146C= (n.2842-146C=)
17g.44374616G>TCA2638214843ITGA2Bc.2943+43C>A (n.2943+43C>A)
c.2374+43C>A
c.253+1217C>A
c.37+43C>A
n.2497C>A
c.2842-146C>A (n.2842-146C>A)
 gnomAD v4
17g.44374617G>ACA8602512ITGA2Bc.2943+42C>T (n.2943+42C>T)
c.2374+42C>T
c.253+1216C>T
c.37+42C>T
n.2496C>T
c.2842-147C>T (n.2842-147C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374617G=CA2261365321ITGA2Bc.2943+42C= (n.2943+42C=)
c.2374+42C=
c.253+1216C=
c.37+42C=
n.2496C=
c.2842-147C= (n.2842-147C=)
17g.44374617G>TCA772285312ITGA2Bc.2943+42C>A (n.2943+42C>A)
c.2374+42C>A
c.253+1216C>A
c.37+42C>A
n.2496C>A
c.2842-147C>A (n.2842-147C>A)
 dbSNP gnomAD v3 gnomAD v4
17g.44374618G>ACA2261365323ITGA2Bc.2943+41C>T (n.2943+41C>T)
c.2374+41C>T
c.253+1215C>T
c.37+41C>T
n.2495C>T
c.2842-148C>T (n.2842-148C>T)
 dbSNP
17g.44374618G=CA2261365322ITGA2Bc.2943+41C= (n.2943+41C=)
c.2374+41C=
c.253+1215C=
c.37+41C=
n.2495C=
c.2842-148C= (n.2842-148C=)
17g.44374618G>TCA2638214844ITGA2Bc.2943+41C>A (n.2943+41C>A)
c.2374+41C>A
c.253+1215C>A
c.37+41C>A
n.2495C>A
c.2842-148C>A (n.2842-148C>A)
 gnomAD v4
17g.44374619T>GCA2638214845ITGA2Bc.2943+40A>C (n.2943+40A>C)
c.2374+40A>C
c.253+1214A>C
c.37+40A>C
n.2494A>C
c.2842-149A>C (n.2842-149A>C)
 gnomAD v4
17g.44374620C>ACA2638214846ITGA2Bc.2943+39G>T (n.2943+39G>T)
c.2374+39G>T
c.253+1213G>T
c.37+39G>T
n.2493G>T
c.2842-150G>T (n.2842-150G>T)
 gnomAD v4
17g.44374620C=CA2261365324ITGA2Bc.2943+39G= (n.2943+39G=)
c.2374+39G=
c.253+1213G=
c.37+39G=
n.2493G=
c.2842-150G= (n.2842-150G=)
17g.44374620C>GCA8602513ITGA2Bc.2943+39G>C (n.2943+39G>C)
c.2374+39G>C
c.253+1213G>C
c.37+39G>C
n.2493G>C
c.2842-150G>C (n.2842-150G>C)
 dbSNP ExAC gnomAD v2
17g.44374620C>TCA8602514ITGA2Bc.2943+39G>A (n.2943+39G>A)
c.2374+39G>A
c.253+1213G>A
c.37+39G>A
n.2493G>A
c.2842-150G>A (n.2842-150G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374621_44374622delinsCTCA2261365325ITGA2Bc.2943+37_2943+38delinsAG (n.2943+37_2943+38delinsAG)
c.2374+37_2374+38delinsAG
c.253+1211_253+1212delinsAG
c.37+37_37+38delinsAG
n.2491_2492delinsAG
c.2842-152_2842-151delinsAG (n.2842-152_2842-151delinsAG)
17g.44374622delCA772285313ITGA2Bc.2943+37del (n.2943+37del)
c.2374+37del
c.253+1211del
c.37+37del
n.2491del
c.2842-152del (n.2842-152del)
 dbSNP gnomAD v4
17g.44374622T>ACA2576290892ITGA2Bc.2943+37A>T (n.2943+37A>T)
c.2374+37A>T
c.253+1211A>T
c.37+37A>T
n.2491A>T
c.2842-152A>T (n.2842-152A>T)
17g.44374623G=CA2261365326ITGA2Bc.2943+36C= (n.2943+36C=)
c.2374+36C=
c.253+1210C=
c.37+36C=
n.2490C=
c.2842-153C= (n.2842-153C=)
17g.44374623G>TCA8602515ITGA2Bc.2943+36C>A (n.2943+36C>A)
c.2374+36C>A
c.253+1210C>A
c.37+36C>A
n.2490C>A
c.2842-153C>A (n.2842-153C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374624C>TCA2638214847ITGA2Bc.2943+35G>A (n.2943+35G>A)
c.2374+35G>A
c.253+1209G>A
c.37+35G>A
n.2489G>A
c.2842-154G>A (n.2842-154G>A)
 gnomAD v4
17g.44374625A=CA2261365327ITGA2Bc.2943+34T= (n.2943+34T=)
c.2374+34T=
c.253+1208T=
c.37+34T=
n.2488T=
c.2842-155T= (n.2842-155T=)
17g.44374625A>GCA2261365328ITGA2Bc.2943+34T>C (n.2943+34T>C)
c.2374+34T>C
c.253+1208T>C
c.37+34T>C
n.2488T>C
c.2842-155T>C (n.2842-155T>C)
 dbSNP
17g.44374626G>TCA2576290893ITGA2Bc.2943+33C>A (n.2943+33C>A)
c.2374+33C>A
c.253+1207C>A
c.37+33C>A
n.2487C>A
c.2842-156C>A (n.2842-156C>A)
17g.44374627dupCA2638214848ITGA2Bc.2943+33dup (n.2943+33dup)
c.2374+33dup
c.253+1207dup
c.37+33dup
n.2487dup
c.2842-156dup (n.2842-156dup)
 gnomAD v4
17g.44374627G>ACA626224464ITGA2Bc.2943+32C>T (n.2943+32C>T)
c.2374+32C>T
c.253+1206C>T
c.37+32C>T
n.2486C>T
c.2842-157C>T (n.2842-157C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.44374627G=CA2261365329ITGA2Bc.2943+32C= (n.2943+32C=)
c.2374+32C=
c.253+1206C=
c.37+32C=
n.2486C=
c.2842-157C= (n.2842-157C=)
17g.44374627G>TCA2576290894ITGA2Bc.2943+32C>A (n.2943+32C>A)
c.2374+32C>A
c.253+1206C>A
c.37+32C>A
n.2486C>A
c.2842-157C>A (n.2842-157C>A)
 gnomAD v4
17g.44374631G>ACA2638214849ITGA2Bc.2943+28C>T (n.2943+28C>T)
c.2374+28C>T
c.253+1202C>T
c.37+28C>T
n.2482C>T
c.2842-161C>T (n.2842-161C>T)
 gnomAD v4
17g.44374631G>TCA2576290895ITGA2Bc.2943+28C>A (n.2943+28C>A)
c.2374+28C>A
c.253+1202C>A
c.37+28C>A
n.2482C>A
c.2842-161C>A (n.2842-161C>A)
17g.44374632G>ACA8602516ITGA2Bc.2943+27C>T (n.2943+27C>T)
c.2374+27C>T
c.253+1201C>T
c.37+27C>T
n.2481C>T
c.2842-162C>T (n.2842-162C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374632G=CA2261365330ITGA2Bc.2943+27C= (n.2943+27C=)
c.2374+27C=
c.253+1201C=
c.37+27C=
n.2481C=
c.2842-162C= (n.2842-162C=)
17g.44374632G>TCA2638214850ITGA2Bc.2943+27C>A (n.2943+27C>A)
c.2374+27C>A
c.253+1201C>A
c.37+27C>A
n.2481C>A
c.2842-162C>A (n.2842-162C>A)
 gnomAD v4
17g.44374635dupCA2576290896ITGA2Bc.2943+24dup (n.2943+24dup)
c.2374+24dup
c.253+1198dup
c.37+24dup
n.2478dup
c.2842-165dup (n.2842-165dup)
17g.44374636C>ACA8602517ITGA2Bc.2943+23G>T (n.2943+23G>T)
c.2374+23G>T
c.253+1197G>T
c.37+23G>T
n.2477G>T
c.2842-166G>T (n.2842-166G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374636C=CA2261365331ITGA2Bc.2943+23G= (n.2943+23G=)
c.2374+23G=
c.253+1197G=
c.37+23G=
n.2477G=
c.2842-166G= (n.2842-166G=)
17g.44374638G>TCA2576290897ITGA2Bc.2943+21C>A (n.2943+21C>A)
c.2374+21C>A
c.253+1195C>A
c.37+21C>A
n.2475C>A
c.2842-168C>A (n.2842-168C>A)
 gnomAD v4
17g.44374639C>TCA2638214851ITGA2Bc.2943+20G>A (n.2943+20G>A)
c.2374+20G>A
c.253+1194G>A
c.37+20G>A
n.2474G>A
c.2842-169G>A (n.2842-169G>A)
 gnomAD v4
17g.44374641C=CA2261365332ITGA2Bc.2943+18G= (n.2943+18G=)
c.2374+18G=
c.253+1192G=
c.37+18G=
n.2472G=
c.2842-171G= (n.2842-171G=)
17g.44374641C>GCA983995020ITGA2Bc.2943+18G>C (n.2943+18G>C)
c.2374+18G>C
c.253+1192G>C
c.37+18G>C
n.2472G>C
c.2842-171G>C (n.2842-171G>C)
 dbSNP gnomAD v3 gnomAD v4
17g.44374641C>TCA8602518ITGA2Bc.2943+18G>A (n.2943+18G>A)
c.2374+18G>A
c.253+1192G>A
c.37+18G>A
n.2472G>A
c.2842-171G>A (n.2842-171G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374644T>ACA2638214852ITGA2Bc.2943+15A>T (n.2943+15A>T)
c.2374+15A>T
c.253+1189A>T
c.37+15A>T
n.2469A>T
c.2842-174A>T (n.2842-174A>T)
 gnomAD v4
17g.44374644T>CCA626224465ITGA2Bc.2943+15A>G (n.2943+15A>G)
c.2374+15A>G
c.253+1189A>G
c.37+15A>G
n.2469A>G
c.2842-174A>G (n.2842-174A>G)
 dbSNP gnomAD v2 gnomAD v4
17g.44374644T=CA2261365333ITGA2Bc.2943+15A= (n.2943+15A=)
c.2374+15A=
c.253+1189A=
c.37+15A=
n.2469A=
c.2842-174A= (n.2842-174A=)
17g.44374645C>ACA626224466ITGA2Bc.2943+14G>T (n.2943+14G>T)
c.2374+14G>T
c.253+1188G>T
c.37+14G>T
n.2468G>T
c.2842-175G>T (n.2842-175G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44374645C=CA2261365334ITGA2Bc.2943+14G= (n.2943+14G=)
c.2374+14G=
c.253+1188G=
c.37+14G=
n.2468G=
c.2842-175G= (n.2842-175G=)
17g.44374645C>GCA772285314ITGA2Bc.2943+14G>C (n.2943+14G>C)
c.2374+14G>C
c.253+1188G>C
c.37+14G>C
n.2468G>C
c.2842-175G>C (n.2842-175G>C)
 dbSNP gnomAD v3 gnomAD v4
17g.44374645C>TCA2261365335ITGA2Bc.2943+14G>A (n.2943+14G>A)
c.2374+14G>A
c.253+1188G>A
c.37+14G>A
n.2468G>A
c.2842-175G>A (n.2842-175G>A)
 dbSNP gnomAD v4
17g.44374650dupCA626224467ITGA2Bc.2943+14dup (n.2943+14dup)
c.2374+14dup
c.253+1188dup
c.37+14dup
n.2468dup
c.2842-175dup (n.2842-175dup)
 gnomAD v2 gnomAD v4
17g.44374650delCA2638214853ITGA2Bc.2943+14del (n.2943+14del)
c.2374+14del
c.253+1188del
c.37+14del
n.2468del
c.2842-175del (n.2842-175del)
 gnomAD v4
17g.44374646C>ACA8602519ITGA2Bc.2943+13G>T (n.2943+13G>T)
c.2374+13G>T
c.253+1187G>T
c.37+13G>T
n.2467G>T
c.2842-176G>T (n.2842-176G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374646C=CA2261365336ITGA2Bc.2943+13G= (n.2943+13G=)
c.2374+13G=
c.253+1187G=
c.37+13G=
n.2467G=
c.2842-176G= (n.2842-176G=)
17g.44374646C>TCA2638214854ITGA2Bc.2943+13G>A (n.2943+13G>A)
c.2374+13G>A
c.253+1187G>A
c.37+13G>A
n.2467G>A
c.2842-176G>A (n.2842-176G>A)
 gnomAD v4
17g.44374647C>ACA8602520ITGA2Bc.2943+12G>T (n.2943+12G>T)
c.2374+12G>T
c.253+1186G>T
c.37+12G>T
n.2466G>T
c.2842-177G>T (n.2842-177G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374647C=CA2261365337ITGA2Bc.2943+12G= (n.2943+12G=)
c.2374+12G=
c.253+1186G=
c.37+12G=
n.2466G=
c.2842-177G= (n.2842-177G=)
17g.44374647C>GCA8602521ITGA2Bc.2943+12G>C (n.2943+12G>C)
c.2374+12G>C
c.253+1186G>C
c.37+12G>C
n.2466G>C
c.2842-177G>C (n.2842-177G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374648C=CA2261365338ITGA2Bc.2943+11G= (n.2943+11G=)
c.2374+11G=
c.253+1185G=
c.37+11G=
n.2465G=
c.2842-178G= (n.2842-178G=)
17g.44374648C>GCA626224468ITGA2Bc.2943+11G>C (n.2943+11G>C)
c.2374+11G>C
c.253+1185G>C
c.37+11G>C
n.2465G>C
c.2842-178G>C (n.2842-178G>C)
 dbSNP gnomAD v2 gnomAD v4
17g.44374648C>TCA8602522ITGA2Bc.2943+11G>A (n.2943+11G>A)
c.2374+11G>A
c.253+1185G>A
c.37+11G>A
n.2465G>A
c.2842-178G>A (n.2842-178G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374649C=CA2261365339ITGA2Bc.2943+10G= (n.2943+10G=)
c.2374+10G=
c.253+1184G=
c.37+10G=
n.2464G=
c.2842-179G= (n.2842-179G=)
17g.44374649C>TCA8602523ITGA2Bc.2943+10G>A (n.2943+10G>A)
c.2374+10G>A
c.253+1184G>A
c.37+10G>A
n.2464G>A
c.2842-179G>A (n.2842-179G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374650C>ACA290946135ITGA2Bc.2943+9G>T (n.2943+9G>T)
c.2374+9G>T
c.253+1183G>T
c.37+9G>T
n.2463G>T
c.2842-180G>T (n.2842-180G>T)
 dbSNP
17g.44374650C=CA2261365340ITGA2Bc.2943+9G= (n.2943+9G=)
c.2374+9G=
c.253+1183G=
c.37+9G=
n.2463G=
c.2842-180G= (n.2842-180G=)
17g.44374650C>GCA8602524ITGA2Bc.2943+9G>C (n.2943+9G>C)
c.2374+9G>C
c.253+1183G>C
c.37+9G>C
n.2463G>C
c.2842-180G>C (n.2842-180G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374650C>TCA2739267576ITGA2Bc.2943+9G>A (n.2943+9G>A)
c.2374+9G>A
c.253+1183G>A
c.37+9G>A
n.2463G>A
c.2842-180G>A (n.2842-180G>A)
 ClinVar
17g.44374653A=CA2261365341ITGA2Bc.2943+6T= (n.2943+6T=)
c.2374+6T=
c.253+1180T=
c.37+6T=
n.2460T=
c.2842-183T= (n.2842-183T=)
17g.44374653A>TCA2261365342ITGA2Bc.2943+6T>A (n.2943+6T>A)
c.2374+6T>A
c.253+1180T>A
c.37+6T>A
n.2460T>A
c.2842-183T>A (n.2842-183T>A)
 dbSNP
17g.44374654C=CA2261365343ITGA2Bc.2943+5G= (n.2943+5G=)
c.2374+5G=
c.253+1179G=
c.37+5G=
n.2459G=
c.2842-184G= (n.2842-184G=)
17g.44374654C>GCA2638214855ITGA2Bc.2943+5G>C (n.2943+5G>C)
c.2374+5G>C
c.253+1179G>C
c.37+5G>C
n.2459G>C
c.2842-184G>C (n.2842-184G>C)
 gnomAD v4
17g.44374654C>TCA290946149ITGA2Bc.2943+5G>A (n.2943+5G>A)
c.2374+5G>A
c.253+1179G>A
c.37+5G>A
n.2459G>A
c.2842-184G>A (n.2842-184G>A)
 dbSNP
17g.44374656C>ACA2261365345ITGA2Bc.2943+3G>T (n.2943+3G>T)
c.2374+3G>T
c.253+1177G>T
c.37+3G>T
n.2457G>T
c.2842-186G>T (n.2842-186G>T)
 ClinVar dbSNP gnomAD v4
17g.44374656C=CA2261365344ITGA2Bc.2943+3G= (n.2943+3G=)
c.2374+3G=
c.253+1177G=
c.37+3G=
n.2457G=
c.2842-186G= (n.2842-186G=)
17g.44374656C>TCA290946150ITGA2Bc.2943+3G>A (n.2943+3G>A)
c.2374+3G>A
c.253+1177G>A
c.37+3G>A
n.2457G>A
c.2842-186G>A (n.2842-186G>A)
 dbSNP gnomAD v4
17g.44374657A>CCA399790372ITGA2Bc.2943+2T>G (n.2943+2T>G)
c.2374+2T>G
c.253+1176T>G
c.37+2T>G
n.2456T>G
c.2842-187T>G (n.2842-187T>G)
17g.44374657A>GCA399790375ITGA2Bc.2943+2T>C (n.2943+2T>C)
c.2374+2T>C
c.253+1176T>C
c.37+2T>C
n.2456T>C
c.2842-187T>C (n.2842-187T>C)
17g.44374657A>TCA399790368ITGA2Bc.2943+2T>A (n.2943+2T>A)
c.2374+2T>A
c.253+1176T>A
c.37+2T>A
n.2456T>A
c.2842-187T>A (n.2842-187T>A)
17g.44374658C>ACA399790379ITGA2Bc.2943+1G>T (n.2943+1G>T)
c.2374+1G>T
c.253+1175G>T
c.37+1G>T
n.2455G>T
c.2842-188G>T (n.2842-188G>T)
17g.44374658C>GCA399790380ITGA2Bc.2943+1G>C (n.2943+1G>C)
c.2374+1G>C
c.253+1175G>C
c.37+1G>C
n.2455G>C
c.2842-188G>C (n.2842-188G>C)
17g.44374658C>TCA399790381ITGA2Bc.2943+1G>A (n.2943+1G>A)
c.2374+1G>A
c.253+1175G>A
c.37+1G>A
n.2455G>A
c.2842-188G>A (n.2842-188G>A)
17g.44374659C>ACA399790384ITGA2Bc.2943G>T (p.Gln981His)
c.2374G>T
c.253+1174G>T
c.37G>T
n.2454G>T
c.2842-189G>T (n.2842-189G>T)
17g.44374659C>GCA399790386ITGA2Bc.2943G>C (p.Gln981His)
c.2374G>C
c.253+1174G>C
c.37G>C
n.2454G>C
c.2842-189G>C (n.2842-189G>C)
 gnomAD v4
17g.44374659C>TCA500262444ITGA2Bc.2943G>A (p.Gln981=)
c.2374G>A
c.253+1174G>A
c.37G>A
n.2454G>A
c.2842-189G>A (n.2842-189G>A)
17g.44374660T>ACA399790395ITGA2Bc.2942A>T (p.Gln981Leu)
c.2373A>T
c.253+1173A>T
c.36A>T
n.2453A>T
c.2842-190A>T (n.2842-190A>T)
17g.44374660T>CCA399790392ITGA2Bc.2942A>G (p.Gln981Arg)
c.2373A>G
c.253+1173A>G
c.36A>G
n.2453A>G
c.2842-190A>G (n.2842-190A>G)
17g.44374660T>GCA399790390ITGA2Bc.2942A>C (p.Gln981Pro)
c.2373A>C
c.253+1173A>C
c.36A>C
n.2453A>C
c.2842-190A>C (n.2842-190A>C)
 gnomAD v4
17g.44374661G>ACA399790399ITGA2Bc.2941C>T (p.Gln981Ter)
c.2372C>T
c.253+1172C>T
c.35C>T
n.2452C>T
c.2842-191C>T (n.2842-191C>T)
 ClinVar
17g.44374661G>CCA399790402ITGA2Bc.2941C>G (p.Gln981Glu)
c.2372C>G
c.253+1172C>G
c.35C>G
n.2452C>G
c.2842-191C>G (n.2842-191C>G)
17g.44374661G>TCA399790405ITGA2Bc.2941C>A (p.Gln981Lys)
c.2372C>A
c.253+1172C>A
c.35C>A
n.2452C>A
c.2842-191C>A (n.2842-191C>A)
17g.44374662A>CCA500262454ITGA2Bc.2940T>G (p.Ala980=)
c.2371T>G
c.253+1171T>G
c.34T>G
n.2451T>G
c.2842-192T>G (n.2842-192T>G)
17g.44374662A>GCA500262452ITGA2Bc.2940T>C (p.Ala980=)
c.2371T>C
c.253+1171T>C
c.34T>C
n.2451T>C
c.2842-192T>C (n.2842-192T>C)
17g.44374662A>TCA500262451ITGA2Bc.2940T>A (p.Ala980=)
c.2371T>A
c.253+1171T>A
c.34T>A
n.2451T>A
c.2842-192T>A (n.2842-192T>A)
17g.44374663G>ACA399790411ITGA2Bc.2939C>T (p.Ala980Val)
c.2370C>T
c.253+1170C>T
c.33C>T
n.2450C>T
c.2842-193C>T (n.2842-193C>T)
17g.44374663G>CCA399790414ITGA2Bc.2939C>G (p.Ala980Gly)
c.2370C>G
c.253+1170C>G
c.33C>G
n.2450C>G
c.2842-193C>G (n.2842-193C>G)
 dbSNP gnomAD v3 gnomAD v4
17g.44374663G=CA2261365346ITGA2Bc.2939C= (p.Ala980=)
c.2370C=
c.253+1170C=
c.33C=
n.2450C=
c.2842-193C= (n.2842-193C=)
17g.44374663G>TCA399790417ITGA2Bc.2939C>A (p.Ala980Asp)
c.2370C>A
c.253+1170C>A
c.33C>A
n.2450C>A
c.2842-193C>A (n.2842-193C>A)
17g.44374664C>ACA399790425ITGA2Bc.2938G>T (p.Ala980Ser)
c.2369G>T
c.253+1169G>T
c.32G>T
n.2449G>T
c.2842-194G>T (n.2842-194G>T)
17g.44374664C>GCA399790435ITGA2Bc.2938G>C (p.Ala980Pro)
c.2369G>C
c.253+1169G>C
c.32G>C
n.2449G>C
c.2842-194G>C (n.2842-194G>C)
17g.44374664C>TCA399790428ITGA2Bc.2938G>A (p.Ala980Thr)
c.2369G>A
c.253+1169G>A
c.32G>A
n.2449G>A
c.2842-194G>A (n.2842-194G>A)
17g.44374665T>ACA399790439ITGA2Bc.2937A>T (p.Glu979Asp)
c.2368A>T
c.253+1168A>T
c.31A>T
n.2448A>T
c.2842-195A>T (n.2842-195A>T)
17g.44374665T>CCA8602525ITGA2Bc.2937A>G (p.Glu979=)
c.2368A>G
c.253+1168A>G
c.31A>G
n.2448A>G
c.2842-195A>G (n.2842-195A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374665T>GCA399790446ITGA2Bc.2937A>C (p.Glu979Asp)
c.2368A>C
c.253+1168A>C
c.31A>C
n.2448A>C
c.2842-195A>C (n.2842-195A>C)
17g.44374665T=CA2261365347ITGA2Bc.2937A= (p.Glu979=)
c.2368A=
c.253+1168A=
c.31A=
n.2448A=
c.2842-195A= (n.2842-195A=)
17g.44374666T>ACA399790458ITGA2Bc.2936A>T (p.Glu979Val)
c.2367A>T
c.253+1167A>T
c.30A>T
n.2447A>T
c.2842-196A>T (n.2842-196A>T)
 gnomAD v4
17g.44374666T>CCA399790461ITGA2Bc.2936A>G (p.Glu979Gly)
c.2367A>G
c.253+1167A>G
c.30A>G
n.2447A>G
c.2842-196A>G (n.2842-196A>G)
17g.44374666T>GCA399790463ITGA2Bc.2936A>C (p.Glu979Ala)
c.2367A>C
c.253+1167A>C
c.30A>C
n.2447A>C
c.2842-196A>C (n.2842-196A>C)
17g.44374667C>ACA8602526ITGA2Bc.2935G>T (p.Glu979Ter)
c.2366G>T
c.253+1166G>T
c.29G>T
n.2446G>T
c.2842-197G>T (n.2842-197G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374667C=CA2261365348ITGA2Bc.2935G= (p.Glu979=)
c.2366G=
c.253+1166G=
c.29G=
n.2446G=
c.2842-197G= (n.2842-197G=)
17g.44374667C>GCA399790472ITGA2Bc.2935G>C (p.Glu979Gln)
c.2366G>C
c.253+1166G>C
c.29G>C
n.2446G>C
c.2842-197G>C (n.2842-197G>C)
 gnomAD v4
17g.44374667C>TCA399790474ITGA2Bc.2935G>A (p.Glu979Lys)
c.2366G>A
c.253+1166G>A
c.29G>A
n.2446G>A
c.2842-197G>A (n.2842-197G>A)
17g.44374668C>ACA500262480ITGA2Bc.2934G>T (p.Gly978=)
c.2365G>T
c.253+1165G>T
c.28G>T
n.2445G>T
c.2842-198G>T (n.2842-198G>T)
17g.44374668C>GCA500262483ITGA2Bc.2934G>C (p.Gly978=)
c.2365G>C
c.253+1165G>C
c.28G>C
n.2445G>C
c.2842-198G>C (n.2842-198G>C)
17g.44374668C>TCA500262482ITGA2Bc.2934G>A (p.Gly978=)
c.2365G>A
c.253+1165G>A
c.28G>A
n.2445G>A
c.2842-198G>A (n.2842-198G>A)
 gnomAD v4
17g.44374669C>ACA399790478ITGA2Bc.2933G>T (p.Gly978Val)
c.2364G>T
c.253+1164G>T
c.27G>T
n.2444G>T
c.2842-199G>T (n.2842-199G>T)
 ClinVar
17g.44374669C>GCA399790485ITGA2Bc.2933G>C (p.Gly978Ala)
c.2364G>C
c.253+1164G>C
c.27G>C
n.2444G>C
c.2842-199G>C (n.2842-199G>C)
 gnomAD v4
17g.44374669C>TCA399790489ITGA2Bc.2933G>A (p.Gly978Glu)
c.2364G>A
c.253+1164G>A
c.27G>A
n.2444G>A
c.2842-199G>A (n.2842-199G>A)
17g.44374670C>ACA399790496ITGA2Bc.2932G>T (p.Gly978Trp)
c.2363G>T
c.253+1163G>T
c.26G>T
n.2443G>T
c.2842-200G>T (n.2842-200G>T)
17g.44374670C>GCA399790499ITGA2Bc.2932G>C (p.Gly978Arg)
c.2363G>C
c.253+1163G>C
c.26G>C
n.2443G>C
c.2842-200G>C (n.2842-200G>C)
17g.44374670C>TCA399790492ITGA2Bc.2932G>A (p.Gly978Arg)
c.2363G>A
c.253+1163G>A
c.26G>A
n.2443G>A
c.2842-200G>A (n.2842-200G>A)
 COSMIC
17g.44374671T>ACA500262492ITGA2Bc.2931A>T (p.Arg977=)
c.2362A>T
c.253+1162A>T
c.25A>T
n.2442A>T
c.2842-201A>T (n.2842-201A>T)
17g.44374671T>CCA500262494ITGA2Bc.2931A>G (p.Arg977=)
c.2362A>G
c.253+1162A>G
c.25A>G
n.2442A>G
c.2842-201A>G (n.2842-201A>G)
17g.44374671T>GCA500262497ITGA2Bc.2931A>C (p.Arg977=)
c.2362A>C
c.253+1162A>C
c.25A>C
n.2442A>C
c.2842-201A>C (n.2842-201A>C)
 gnomAD v4
17g.44374671_44374672delinsTCCA2261365349ITGA2Bc.2930_2931delinsGA (p.Arg977=)
c.2361_2362delinsGA
c.253+1161_253+1162delinsGA
c.24_25delinsGA
n.2441_2442delinsGA
c.2842-202_2842-201delinsGA (n.2842-202_2842-201delinsGA)
17g.44374672delCA915940386ITGA2Bc.2930del (p.Arg977GlnfsTer?)
c.2361del
c.253+1161del
c.24del
n.2441del
c.2842-202del (n.2842-202del)
 ClinVar dbSNP
17g.44374672C>ACA399790503ITGA2Bc.2930G>T (p.Arg977Leu)
c.2361G>T
c.253+1161G>T
c.24G>T
n.2441G>T
c.2842-202G>T (n.2842-202G>T)
17g.44374672C=CA2261365350ITGA2Bc.2930G= (p.Arg977=)
c.2361G=
c.253+1161G=
c.24G=
n.2441G=
c.2842-202G= (n.2842-202G=)
17g.44374672C>GCA399790526ITGA2Bc.2930G>C (p.Arg977Pro)
c.2361G>C
c.253+1161G>C
c.24G>C
n.2441G>C
c.2842-202G>C (n.2842-202G>C)
17g.44374672C>TCA8602527ITGA2Bc.2930G>A (p.Arg977Gln)
c.2361G>A
c.253+1161G>A
c.24G>A
n.2441G>A
c.2842-202G>A (n.2842-202G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374672_44374673delCA915940726ITGA2Bc.2929_2930del (p.Glu979SerfsTer?)
c.2360_2361del
c.253+1160_253+1161del
c.23_24del
n.2440_2441del
c.2842-203_2842-202del (n.2842-203_2842-202del)
c.2929_2930del (p.Glu979SerfsTer17)
 ClinVar dbSNP
17g.44374672_44374687delinsCGGGGCAGGCTGAGCGCA2261365351ITGA2Bc.2915_2930delinsCGCTCAGCCTGCCCCG (p.Pro972=)
c.2346_2361delinsCGCTCAGCCTGCCCCG
c.253+1146_253+1161delinsCGCTCAGCCTGCCCCG
c.9_24delinsCGCTCAGCCTGCCCCG
n.2426_2441delinsCGCTCAGCCTGCCCCG
c.2842-217_2842-202delinsCGCTCAGCCTGCCCCG (n.2842-217_2842-202delinsCGCTCAGCCTGCCCCG)
17g.44374673G>ACA8602528ITGA2Bc.2929C>T (p.Arg977Ter)
c.2360C>T
c.253+1160C>T
c.23C>T
n.2440C>T
c.2842-203C>T (n.2842-203C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374673G>CCA399790529ITGA2Bc.2929C>G (p.Arg977Gly)
c.2360C>G
c.253+1160C>G
c.23C>G
n.2440C>G
c.2842-203C>G (n.2842-203C>G)
 dbSNP gnomAD v3 gnomAD v4
17g.44374673G=CA2261365352ITGA2Bc.2929C= (p.Arg977=)
c.2360C=
c.253+1160C=
c.23C=
n.2440C=
c.2842-203C= (n.2842-203C=)
17g.44374673G>TCA500262503ITGA2Bc.2929C>A (p.Arg977=)
c.2360C>A
c.253+1160C>A
c.23C>A
n.2440C>A
c.2842-203C>A (n.2842-203C>A)
17g.44374679_44374693delCA983995027ITGA2Bc.2915_2929del (p.Pro972_Pro976del)
c.2346_2360del
c.253+1146_253+1160del
c.9_23del
n.2426_2440del
c.2842-217_2842-203del (n.2842-217_2842-203del)
 dbSNP gnomAD v3 gnomAD v4
17g.44374674G>ACA500262505ITGA2Bc.2928C>T (p.Pro976=)
c.2359C>T
c.253+1159C>T
c.22C>T
n.2439C>T
c.2842-204C>T (n.2842-204C>T)
 dbSNP gnomAD v4
17g.44374674G>CCA500262507ITGA2Bc.2928C>G (p.Pro976=)
c.2359C>G
c.253+1159C>G
c.22C>G
n.2439C>G
c.2842-204C>G (n.2842-204C>G)
17g.44374674G=CA2261365353ITGA2Bc.2928C= (p.Pro976=)
c.2359C=
c.253+1159C=
c.22C=
n.2439C=
c.2842-204C= (n.2842-204C=)
17g.44374674G>TCA500262510ITGA2Bc.2928C>A (p.Pro976=)
c.2359C>A
c.253+1159C>A
c.22C>A
n.2439C>A
c.2842-204C>A (n.2842-204C>A)
17g.44374675G>ACA399790531ITGA2Bc.2927C>T (p.Pro976Leu)
c.2358C>T
c.253+1158C>T
c.21C>T
n.2438C>T
c.2842-205C>T (n.2842-205C>T)
 COSMIC
17g.44374675G>CCA399790534ITGA2Bc.2927C>G (p.Pro976Arg)
c.2358C>G
c.253+1158C>G
c.21C>G
n.2438C>G
c.2842-205C>G (n.2842-205C>G)
17g.44374675G>TCA399790535ITGA2Bc.2927C>A (p.Pro976His)
c.2358C>A
c.253+1158C>A
c.21C>A
n.2438C>A
c.2842-205C>A (n.2842-205C>A)
 gnomAD v4
17g.44374676G>ACA399790539ITGA2Bc.2926C>T (p.Pro976Ser)
c.2357C>T
c.253+1157C>T
c.20C>T
n.2437C>T
c.2842-206C>T (n.2842-206C>T)
 COSMIC
17g.44374676G>CCA399790548ITGA2Bc.2926C>G (p.Pro976Ala)
c.2357C>G
c.253+1157C>G
c.20C>G
n.2437C>G
c.2842-206C>G (n.2842-206C>G)
17g.44374676G=CA2261365354ITGA2Bc.2926C= (p.Pro976=)
c.2357C=
c.253+1157C=
c.20C=
n.2437C=
c.2842-206C= (n.2842-206C=)
17g.44374676G>TCA290946158ITGA2Bc.2926C>A (p.Pro976Thr)
c.2357C>A
c.253+1157C>A
c.20C>A
n.2437C>A
c.2842-206C>A (n.2842-206C>A)
 dbSNP gnomAD v4
17g.44374677C>ACA500262518ITGA2Bc.2925G>T (p.Leu975=)
c.2356G>T
c.253+1156G>T
c.19G>T
n.2436G>T
c.2842-207G>T (n.2842-207G>T)
 gnomAD v4
17g.44374677C=CA2261365355ITGA2Bc.2925G= (p.Leu975=)
c.2356G=
c.253+1156G=
c.19G=
n.2436G=
c.2842-207G= (n.2842-207G=)
17g.44374677C>GCA500262520ITGA2Bc.2925G>C (p.Leu975=)
c.2356G>C
c.253+1156G>C
c.19G>C
n.2436G>C
c.2842-207G>C (n.2842-207G>C)
17g.44374677C>TCA500262516ITGA2Bc.2925G>A (p.Leu975=)
c.2356G>A
c.253+1156G>A
c.19G>A
n.2436G>A
c.2842-207G>A (n.2842-207G>A)
 dbSNP gnomAD v2
17g.44374678A>CCA399790555ITGA2Bc.2924T>G (p.Leu975Arg)
c.2355T>G
c.253+1155T>G
c.18T>G
n.2435T>G
c.2842-208T>G (n.2842-208T>G)
17g.44374678A>GCA399790558ITGA2Bc.2924T>C (p.Leu975Pro)
c.2355T>C
c.253+1155T>C
c.18T>C
n.2435T>C
c.2842-208T>C (n.2842-208T>C)
 gnomAD v4
17g.44374678A>TCA399790561ITGA2Bc.2924T>A (p.Leu975Gln)
c.2355T>A
c.253+1155T>A
c.18T>A
n.2435T>A
c.2842-208T>A (n.2842-208T>A)
17g.44374679G>ACA500262524ITGA2Bc.2923C>T (p.Leu975=)
c.2354C>T
c.253+1154C>T
c.17C>T
n.2434C>T
c.2842-209C>T (n.2842-209C>T)
17g.44374679G>CCA399790565ITGA2Bc.2923C>G (p.Leu975Val)
c.2354C>G
c.253+1154C>G
c.17C>G
n.2434C>G
c.2842-209C>G (n.2842-209C>G)
17g.44374679G=CA2261365356ITGA2Bc.2923C= (p.Leu975=)
c.2354C=
c.253+1154C=
c.17C=
n.2434C=
c.2842-209C= (n.2842-209C=)
17g.44374679G>TCA399790571ITGA2Bc.2923C>A (p.Leu975Met)
c.2354C>A
c.253+1154C>A
c.17C>A
n.2434C>A
c.2842-209C>A (n.2842-209C>A)
 dbSNP gnomAD v3 gnomAD v4
17g.44374680G>ACA500262527ITGA2Bc.2922C>T (p.Ser974=)
c.2353C>T
c.253+1153C>T
c.16C>T
n.2433C>T
c.2842-210C>T (n.2842-210C>T)
17g.44374680G>CCA399790595ITGA2Bc.2922C>G (p.Ser974Arg)
c.2353C>G
c.253+1153C>G
c.16C>G
n.2433C>G
c.2842-210C>G (n.2842-210C>G)
17g.44374680G>TCA399790587ITGA2Bc.2922C>A (p.Ser974Arg)
c.2353C>A
c.253+1153C>A
c.16C>A
n.2433C>A
c.2842-210C>A (n.2842-210C>A)
17g.44374681C>ACA399790599ITGA2Bc.2921G>T (p.Ser974Ile)
c.2352G>T
c.253+1152G>T
c.15G>T
n.2432G>T
c.2842-211G>T (n.2842-211G>T)
17g.44374681C>GCA399790603ITGA2Bc.2921G>C (p.Ser974Thr)
c.2352G>C
c.253+1152G>C
c.15G>C
n.2432G>C
c.2842-211G>C (n.2842-211G>C)
17g.44374681C>TCA399790604ITGA2Bc.2921G>A (p.Ser974Asn)
c.2352G>A
c.253+1152G>A
c.15G>A
n.2432G>A
c.2842-211G>A (n.2842-211G>A)
 gnomAD v4
17g.44374682T>ACA399790614ITGA2Bc.2920A>T (p.Ser974Cys)
c.2351A>T
c.253+1151A>T
c.14A>T
n.2431A>T
c.2842-212A>T (n.2842-212A>T)
17g.44374682T>CCA399790615ITGA2Bc.2920A>G (p.Ser974Gly)
c.2351A>G
c.253+1151A>G
c.14A>G
n.2431A>G
c.2842-212A>G (n.2842-212A>G)
17g.44374682T>GCA399790616ITGA2Bc.2920A>C (p.Ser974Arg)
c.2351A>C
c.253+1151A>C
c.14A>C
n.2431A>C
c.2842-212A>C (n.2842-212A>C)
17g.44374683G>ACA8602529ITGA2Bc.2919C>T (p.Leu973=)
c.2350C>T
c.253+1150C>T
c.13C>T
n.2430C>T
c.2842-213C>T (n.2842-213C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374683G>CCA500262540ITGA2Bc.2919C>G (p.Leu973=)
c.2350C>G
c.253+1150C>G
c.13C>G
n.2430C>G
c.2842-213C>G (n.2842-213C>G)
17g.44374683G=CA2261365357ITGA2Bc.2919C= (p.Leu973=)
c.2350C=
c.253+1150C=
c.13C=
n.2430C=
c.2842-213C= (n.2842-213C=)
17g.44374683G>TCA500262545ITGA2Bc.2919C>A (p.Leu973=)
c.2350C>A
c.253+1150C>A
c.13C>A
n.2430C>A
c.2842-213C>A (n.2842-213C>A)
17g.44374684A=CA2261365358ITGA2Bc.2918T= (p.Leu973=)
c.2349T=
c.253+1149T=
c.12T=
n.2429T=
c.2842-214T= (n.2842-214T=)
17g.44374684A>CCA399790621ITGA2Bc.2918T>G (p.Leu973Arg)
c.2349T>G
c.253+1149T>G
c.12T>G
n.2429T>G
c.2842-214T>G (n.2842-214T>G)
17g.44374684A>GCA399790627ITGA2Bc.2918T>C (p.Leu973Pro)
c.2349T>C
c.253+1149T>C
c.12T>C
n.2429T>C
c.2842-214T>C (n.2842-214T>C)
 dbSNP gnomAD v2 gnomAD v4
17g.44374684A>TCA399790642ITGA2Bc.2918T>A (p.Leu973His)
c.2349T>A
c.253+1149T>A
c.12T>A
n.2429T>A
c.2842-214T>A (n.2842-214T>A)
17g.44374685G>ACA399790646ITGA2Bc.2917C>T (p.Leu973Phe)
c.2348C>T
c.253+1148C>T
c.11C>T
n.2428C>T
c.2842-215C>T (n.2842-215C>T)
 dbSNP gnomAD v4
17g.44374685G>CCA399790650ITGA2Bc.2917C>G (p.Leu973Val)
c.2348C>G
c.253+1148C>G
c.11C>G
n.2428C>G
c.2842-215C>G (n.2842-215C>G)
17g.44374685G=CA2261365359ITGA2Bc.2917C= (p.Leu973=)
c.2348C=
c.253+1148C=
c.11C=
n.2428C=
c.2842-215C= (n.2842-215C=)
17g.44374685G>TCA399790654ITGA2Bc.2917C>A (p.Leu973Ile)
c.2348C>A
c.253+1148C>A
c.11C>A
n.2428C>A
c.2842-215C>A (n.2842-215C>A)
17g.44374685_44374687delinsGCGCA2261365360ITGA2Bc.2915_2917delinsCGC (p.Pro972=)
c.2346_2348delinsCGC
c.253+1146_253+1148delinsCGC
c.9_11delinsCGC
n.2426_2428delinsCGC
c.2842-217_2842-215delinsCGC (n.2842-217_2842-215delinsCGC)
17g.44374686C>ACA500262556ITGA2Bc.2916G>T (p.Pro972=)
c.2347G>T
c.253+1147G>T
c.10G>T
n.2427G>T
c.2842-216G>T (n.2842-216G>T)
17g.44374686C=CA2261365361ITGA2Bc.2916G= (p.Pro972=)
c.2347G=
c.253+1147G=
c.10G=
n.2427G=
c.2842-216G= (n.2842-216G=)
17g.44374686C>GCA500262557ITGA2Bc.2916G>C (p.Pro972=)
c.2347G>C
c.253+1147G>C
c.10G>C
n.2427G>C
c.2842-216G>C (n.2842-216G>C)
17g.44374686C>TCA8602530ITGA2Bc.2916G>A (p.Pro972=)
c.2347G>A
c.253+1147G>A
c.10G>A
n.2427G>A
c.2842-216G>A (n.2842-216G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374686_44374687delinsACA1139665645ITGA2Bc.2915_2916delinsT (p.Pro972LeufsTer?)
c.2346_2347delinsT
c.253+1146_253+1147delinsT
c.9_10delinsT
n.2426_2427delinsT
c.2842-217_2842-216delinsT (n.2842-217_2842-216delinsT)
 ClinVar dbSNP
17g.44374687G>ACA8602532ITGA2Bc.2915C>T (p.Pro972Leu)
c.2346C>T
c.253+1146C>T
c.9C>T
n.2426C>T
c.2842-217C>T (n.2842-217C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374687G>CCA399790670ITGA2Bc.2915C>G (p.Pro972Arg)
c.2346C>G
c.253+1146C>G
c.9C>G
n.2426C>G
c.2842-217C>G (n.2842-217C>G)
 dbSNP gnomAD v2 gnomAD v4
17g.44374687G=CA2261365362ITGA2Bc.2915C= (p.Pro972=)
c.2346C=
c.253+1146C=
c.9C=
n.2426C=
c.2842-217C= (n.2842-217C=)
17g.44374687G>TCA399790673ITGA2Bc.2915C>A (p.Pro972Gln)
c.2346C>A
c.253+1146C>A
c.9C>A
n.2426C>A
c.2842-217C>A (n.2842-217C>A)
 dbSNP gnomAD v2 gnomAD v4
17g.44374691dupCA8602531ITGA2Bc.2915dup (p.Leu973AlafsTer?)
c.2346dup
c.253+1146dup
c.9dup
n.2426dup
c.2842-217dup (n.2842-217dup)
c.2915dup (p.Leu973AlafsTer24)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374691_44374704delCA2638214856ITGA2Bc.2902_2915del (p.Tyr968AlafsTer?)
c.2333_2346del
c.253+1133_253+1146del
n.2413_2426del
c.2842-230_2842-217del (n.2842-230_2842-217del)
c.2902_2915del (p.Tyr968AlafsTer24)
 gnomAD v4
17g.44374688G>ACA8602533ITGA2Bc.2914C>T (p.Pro972Ser)
c.2345C>T
c.253+1145C>T
c.8C>T
n.2425C>T
c.2842-218C>T (n.2842-218C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374688G>CCA399790680ITGA2Bc.2914C>G (p.Pro972Ala)
c.2345C>G
c.253+1145C>G
c.8C>G
n.2425C>G
c.2842-218C>G (n.2842-218C>G)
17g.44374688G=CA2261365363ITGA2Bc.2914C= (p.Pro972=)
c.2345C=
c.253+1145C=
c.8C=
n.2425C=
c.2842-218C= (n.2842-218C=)
17g.44374688G>TCA399790682ITGA2Bc.2914C>A (p.Pro972Thr)
c.2345C>A
c.253+1145C>A
c.8C>A
n.2425C>A
c.2842-218C>A (n.2842-218C>A)
17g.44374689G>ACA8602534ITGA2Bc.2913C>T (p.Pro971=)
c.2344C>T
c.253+1144C>T
c.7C>T
n.2424C>T
c.2842-219C>T (n.2842-219C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374689G>CCA500262567ITGA2Bc.2913C>G (p.Pro971=)
c.2344C>G
c.253+1144C>G
c.7C>G
n.2424C>G
c.2842-219C>G (n.2842-219C>G)
 dbSNP gnomAD v3 gnomAD v4
17g.44374689G=CA2261365364ITGA2Bc.2913C= (p.Pro971=)
c.2344C=
c.253+1144C=
c.7C=
n.2424C=
c.2842-219C= (n.2842-219C=)
17g.44374689G>TCA500262565ITGA2Bc.2913C>A (p.Pro971=)
c.2344C>A
c.253+1144C>A
c.7C>A
n.2424C>A
c.2842-219C>A (n.2842-219C>A)
17g.44374690G>ACA399790694ITGA2Bc.2912C>T (p.Pro971Leu)
c.2343C>T
c.253+1143C>T
c.6C>T
n.2423C>T
c.2842-220C>T (n.2842-220C>T)
17g.44374690G>CCA399790699ITGA2Bc.2912C>G (p.Pro971Arg)
c.2343C>G
c.253+1143C>G
c.6C>G
n.2423C>G
c.2842-220C>G (n.2842-220C>G)
17g.44374690G=CA2261365365ITGA2Bc.2912C= (p.Pro971=)
c.2343C=
c.253+1143C=
c.6C=
n.2423C=
c.2842-220C= (n.2842-220C=)
17g.44374690G>TCA290946182ITGA2Bc.2912C>A (p.Pro971His)
c.2343C>A
c.253+1143C>A
c.6C>A
n.2423C>A
c.2842-220C>A (n.2842-220C>A)
 dbSNP gnomAD v4
17g.44374691G>ACA399790706ITGA2Bc.2911C>T (p.Pro971Ser)
c.2342C>T
c.253+1142C>T
c.5C>T
n.2422C>T
c.2842-221C>T (n.2842-221C>T)
17g.44374691G>CCA290946188ITGA2Bc.2911C>G (p.Pro971Ala)
c.2342C>G
c.253+1142C>G
c.5C>G
n.2422C>G
c.2842-221C>G (n.2842-221C>G)
 dbSNP
17g.44374691G=CA2261365366ITGA2Bc.2911C= (p.Pro971=)
c.2342C=
c.253+1142C=
c.5C=
n.2422C=
c.2842-221C= (n.2842-221C=)
17g.44374691G>TCA399790709ITGA2Bc.2911C>A (p.Pro971Thr)
c.2342C>A
c.253+1142C>A
c.5C>A
n.2422C>A
c.2842-221C>A (n.2842-221C>A)
 dbSNP gnomAD v3 gnomAD v4
17g.44374692C>ACA500262570ITGA2Bc.2910G>T (p.Val970=)
c.2341G>T
c.253+1141G>T
c.4G>T
n.2421G>T
c.2842-222G>T (n.2842-222G>T)
17g.44374692C>GCA500262572ITGA2Bc.2910G>C (p.Val970=)
c.2341G>C
c.253+1141G>C
c.4G>C
n.2421G>C
c.2842-222G>C (n.2842-222G>C)
17g.44374692C>TCA500262573ITGA2Bc.2910G>A (p.Val970=)
c.2341G>A
c.253+1141G>A
c.4G>A
n.2421G>A
c.2842-222G>A (n.2842-222G>A)
17g.44374693A=CA2261365367ITGA2Bc.2909T= (p.Val970=)
c.2340T=
c.253+1140T=
c.3T=
n.2420T=
c.2842-223T= (n.2842-223T=)
17g.44374693A>CCA399790713ITGA2Bc.2909T>G (p.Val970Gly)
c.2340T>G
c.253+1140T>G
c.3T>G
n.2420T>G
c.2842-223T>G (n.2842-223T>G)
17g.44374693A>GCA8602535ITGA2Bc.2909T>C (p.Val970Ala)
c.2340T>C
c.253+1140T>C
c.3T>C
n.2420T>C
c.2842-223T>C (n.2842-223T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374693A>TCA399790710ITGA2Bc.2909T>A (p.Val970Glu)
c.2340T>A
c.253+1140T>A
c.3T>A
n.2420T>A
c.2842-223T>A (n.2842-223T>A)
17g.44374694C>ACA399790717ITGA2Bc.2908G>T (p.Val970Leu)
c.2339G>T
c.253+1139G>T
c.2G>T
n.2419G>T
c.2842-224G>T (n.2842-224G>T)
 dbSNP gnomAD v4
17g.44374694C=CA2261365368ITGA2Bc.2908G= (p.Val970=)
c.2339G=
c.253+1139G=
c.2G=
n.2419G=
c.2842-224G= (n.2842-224G=)
17g.44374694C>GCA399790720ITGA2Bc.2908G>C (p.Val970Leu)
c.2339G>C
c.253+1139G>C
c.2G>C
n.2419G>C
c.2842-224G>C (n.2842-224G>C)
17g.44374694C>TCA399790721ITGA2Bc.2908G>A (p.Val970Met)
c.2339G>A
c.253+1139G>A
c.2G>A
n.2419G>A
c.2842-224G>A (n.2842-224G>A)
 gnomAD v4
17g.44374695C>ACA500262583ITGA2Bc.2907G>T (p.Ala969=)
c.2338G>T
c.253+1138G>T
c.1G>T
n.2418G>T
c.2842-225G>T (n.2842-225G>T)
17g.44374695C=CA2261365369ITGA2Bc.2907G= (p.Ala969=)
c.2338G=
c.253+1138G=
c.1G=
n.2418G=
c.2842-225G= (n.2842-225G=)
17g.44374695C>GCA8602536ITGA2Bc.2907G>C (p.Ala969=)
c.2338G>C
c.253+1138G>C
c.1G>C
n.2418G>C
c.2842-225G>C (n.2842-225G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374695C>TCA8602537ITGA2Bc.2907G>A (p.Ala969=)
c.2338G>A
c.253+1138G>A
c.1G>A
n.2418G>A
c.2842-225G>A (n.2842-225G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374696G>ACA8602538ITGA2Bc.2906C>T (p.Ala969Val)
c.2337C>T
c.253+1137C>T
n.2417C>T
c.2842-226C>T (n.2842-226C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.44374696G>CCA399790729ITGA2Bc.2906C>G (p.Ala969Gly)
c.2337C>G
c.253+1137C>G
n.2417C>G
c.2842-226C>G (n.2842-226C>G)
17g.44374696G=CA2261365370ITGA2Bc.2906C= (p.Ala969=)
c.2337C=
c.253+1137C=
n.2417C=
c.2842-226C= (n.2842-226C=)
17g.44374696G>TCA399790744ITGA2Bc.2906C>A (p.Ala969Glu)
c.2337C>A
c.253+1137C>A
n.2417C>A
c.2842-226C>A (n.2842-226C>A)
17g.44374697C>ACA8602540ITGA2Bc.2905G>T (p.Ala969Ser)
c.2336G>T
c.253+1136G>T
n.2416G>T
c.2842-227G>T (n.2842-227G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374697C=CA2261365371ITGA2Bc.2905G= (p.Ala969=)
c.2336G=
c.253+1136G=
n.2416G=
c.2842-227G= (n.2842-227G=)
17g.44374697C>GCA399790754ITGA2Bc.2905G>C (p.Ala969Pro)
c.2336G>C
c.253+1136G>C
n.2416G>C
c.2842-227G>C (n.2842-227G>C)
17g.44374697C>TCA8602539ITGA2Bc.2905G>A (p.Ala969Thr)
c.2336G>A
c.253+1136G>A
n.2416G>A
c.2842-227G>A (n.2842-227G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374698A>CCA399790764ITGA2Bc.2904T>G (p.Tyr968Ter)
c.2335T>G
c.253+1135T>G
n.2415T>G
c.2842-228T>G (n.2842-228T>G)
17g.44374698A>GCA500262586ITGA2Bc.2904T>C (p.Tyr968=)
c.2335T>C
c.253+1135T>C
n.2415T>C
c.2842-228T>C (n.2842-228T>C)
17g.44374698A>TCA399790771ITGA2Bc.2904T>A (p.Tyr968Ter)
c.2335T>A
c.253+1135T>A
n.2415T>A
c.2842-228T>A (n.2842-228T>A)
17g.44374699T>ACA399790783ITGA2Bc.2903A>T (p.Tyr968Phe)
c.2334A>T
c.253+1134A>T
n.2414A>T
c.2842-229A>T (n.2842-229A>T)
17g.44374699T>CCA399790777ITGA2Bc.2903A>G (p.Tyr968Cys)
c.2334A>G
c.253+1134A>G
n.2414A>G
c.2842-229A>G (n.2842-229A>G)
 gnomAD v4
17g.44374699T>GCA399790781ITGA2Bc.2903A>C (p.Tyr968Ser)
c.2334A>C
c.253+1134A>C
n.2414A>C
c.2842-229A>C (n.2842-229A>C)
17g.44374700delCA915940332ITGA2Bc.2902del (p.Tyr968MetfsTer?)
c.2333del
c.253+1133del
n.2413del
c.2842-230del (n.2842-230del)
 ClinVar dbSNP gnomAD v4
17g.44374700A=CA2261365372ITGA2Bc.2902T= (p.Tyr968=)
c.2333T=
c.253+1133T=
n.2413T=
c.2842-230T= (n.2842-230T=)
17g.44374700A>CCA399790789ITGA2Bc.2902T>G (p.Tyr968Asp)
c.2333T>G
c.253+1133T>G
n.2413T>G
c.2842-230T>G (n.2842-230T>G)
17g.44374700A>GCA290946201ITGA2Bc.2902T>C (p.Tyr968His)
c.2333T>C
c.253+1133T>C
n.2413T>C
c.2842-230T>C (n.2842-230T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44374700A>TCA290946208ITGA2Bc.2902T>A (p.Tyr968Asn)
c.2333T>A
c.253+1133T>A
n.2413T>A
c.2842-230T>A (n.2842-230T>A)
 dbSNP
17g.44374704_44374708dupCA915940725ITGA2Bc.2898_2902dup (p.Tyr968SerfsTer?)
c.2329_2333dup
c.253+1129_253+1133dup
n.2409_2413dup
c.2842-234_2842-230dup (n.2842-234_2842-230dup)
 ClinVar dbSNP
17g.44374701G>ACA500262592ITGA2Bc.2901C>T (p.Pro967=)
c.2332C>T
c.253+1132C>T
n.2412C>T
c.2842-231C>T (n.2842-231C>T)
17g.44374701G>CCA500262594ITGA2Bc.2901C>G (p.Pro967=)
c.2332C>G
c.253+1132C>G
n.2412C>G
c.2842-231C>G (n.2842-231C>G)
 dbSNP
17g.44374701G=CA2261365373ITGA2Bc.2901C= (p.Pro967=)
c.2332C=
c.253+1132C=
n.2412C=
c.2842-231C= (n.2842-231C=)
17g.44374701G>TCA500262596ITGA2Bc.2901C>A (p.Pro967=)
c.2332C>A
c.253+1132C>A
n.2412C>A
c.2842-231C>A (n.2842-231C>A)
17g.44374702G>ACA399790799ITGA2Bc.2900C>T (p.Pro967Leu)
c.2331C>T
c.253+1131C>T
n.2411C>T
c.2842-232C>T (n.2842-232C>T)
 dbSNP
17g.44374702G>CCA399790803ITGA2Bc.2900C>G (p.Pro967Arg)
c.2331C>G
c.253+1131C>G
n.2411C>G
c.2842-232C>G (n.2842-232C>G)
 gnomAD v4
17g.44374702G=CA2261365374ITGA2Bc.2900C= (p.Pro967=)
c.2331C=
c.253+1131C=
n.2411C=
c.2842-232C= (n.2842-232C=)
17g.44374702G>TCA399790807ITGA2Bc.2900C>A (p.Pro967His)
c.2331C>A
c.253+1131C>A
n.2411C>A
c.2842-232C>A (n.2842-232C>A)
 dbSNP gnomAD v2 gnomAD v4
17g.44374703G>ACA399790820ITGA2Bc.2899C>T (p.Pro967Ser)
c.2330C>T
c.253+1130C>T
n.2410C>T
c.2842-233C>T (n.2842-233C>T)
 COSMIC
17g.44374703G>CCA399790814ITGA2Bc.2899C>G (p.Pro967Ala)
c.2330C>G
c.253+1130C>G
n.2410C>G
c.2842-233C>G (n.2842-233C>G)
17g.44374703G>TCA399790811ITGA2Bc.2899C>A (p.Pro967Thr)
c.2330C>A
c.253+1130C>A
n.2410C>A
c.2842-233C>A (n.2842-233C>A)
17g.44374704G>ACA500262604ITGA2Bc.2898C>T (p.Leu966=)
c.2329C>T
c.253+1129C>T
n.2409C>T
c.2842-234C>T (n.2842-234C>T)
 gnomAD v4
17g.44374704G>CCA500262607ITGA2Bc.2898C>G (p.Leu966=)
c.2329C>G
c.253+1129C>G
n.2409C>G
c.2842-234C>G (n.2842-234C>G)
17g.44374704G>TCA500262609ITGA2Bc.2898C>A (p.Leu966=)
c.2329C>A
c.253+1129C>A
n.2409C>A
c.2842-234C>A (n.2842-234C>A)
17g.44374705A>CCA399790825ITGA2Bc.2897T>G (p.Leu966Arg)
c.2328T>G
c.253+1128T>G
n.2408T>G
c.2842-235T>G (n.2842-235T>G)
17g.44374705A>GCA399790828ITGA2Bc.2897T>C (p.Leu966Pro)
c.2328T>C
c.253+1128T>C
n.2408T>C
c.2842-235T>C (n.2842-235T>C)
17g.44374705A>TCA399790830ITGA2Bc.2897T>A (p.Leu966His)
c.2328T>A
c.253+1128T>A
n.2408T>A
c.2842-235T>A (n.2842-235T>A)
17g.44374706G>ACA399790834ITGA2Bc.2896C>T (p.Leu966Phe)
c.2327C>T
c.253+1127C>T
n.2407C>T
c.2842-236C>T (n.2842-236C>T)
 gnomAD v4
17g.44374706G>CCA399790838ITGA2Bc.2896C>G (p.Leu966Val)
c.2327C>G
c.253+1127C>G
n.2407C>G
c.2842-236C>G (n.2842-236C>G)
 gnomAD v4
17g.44374706G>TCA399790842ITGA2Bc.2896C>A (p.Leu966Ile)
c.2327C>A
c.253+1127C>A
n.2407C>A
c.2842-236C>A (n.2842-236C>A)
17g.44374707G>ACA500262617ITGA2Bc.2895C>T (p.Ser965=)
c.2326C>T
c.253+1126C>T
n.2406C>T
c.2842-237C>T (n.2842-237C>T)
17g.44374707G>CCA500262618ITGA2Bc.2895C>G (p.Ser965=)
c.2326C>G
c.253+1126C>G
n.2406C>G
c.2842-237C>G (n.2842-237C>G)
17g.44374707G>TCA500262620ITGA2Bc.2895C>A (p.Ser965=)
c.2326C>A
c.253+1126C>A
n.2406C>A
c.2842-237C>A (n.2842-237C>A)
17g.44374708G>ACA399790844ITGA2Bc.2894C>T (p.Ser965Phe)
c.2325C>T
c.253+1125C>T
n.2405C>T
c.2842-238C>T (n.2842-238C>T)
 gnomAD v4
17g.44374708G>CCA399790846ITGA2Bc.2894C>G (p.Ser965Cys)
c.2325C>G
c.253+1125C>G
n.2405C>G
c.2842-238C>G (n.2842-238C>G)
 ClinVar dbSNP
17g.44374708G=CA2261365375ITGA2Bc.2894C= (p.Ser965=)
c.2325C=
c.253+1125C=
n.2405C=
c.2842-238C= (n.2842-238C=)
17g.44374708G>TCA399790845ITGA2Bc.2894C>A (p.Ser965Tyr)
c.2325C>A
c.253+1125C>A
n.2405C>A
c.2842-238C>A (n.2842-238C>A)
17g.44374709A>CCA399790854ITGA2Bc.2893T>G (p.Ser965Ala)
c.2324T>G
c.253+1124T>G
n.2404T>G
c.2842-239T>G (n.2842-239T>G)
17g.44374709A>GCA399790858ITGA2Bc.2893T>C (p.Ser965Pro)
c.2324T>C
c.253+1124T>C
n.2404T>C
c.2842-239T>C (n.2842-239T>C)
17g.44374709A>TCA399790860ITGA2Bc.2893T>A (p.Ser965Thr)
c.2324T>A
c.253+1124T>A
n.2404T>A
c.2842-239T>A (n.2842-239T>A)
17g.44374710G>ACA500262633ITGA2Bc.2892C>T (p.Ser964=)
c.2323C>T
c.253+1123C>T
n.2403C>T
c.2842-240C>T (n.2842-240C>T)
17g.44374710G>CCA500262635ITGA2Bc.2892C>G (p.Ser964=)
c.2323C>G
c.253+1123C>G
n.2403C>G
c.2842-240C>G (n.2842-240C>G)
17g.44374710G>TCA500262636ITGA2Bc.2892C>A (p.Ser964=)
c.2323C>A
c.253+1123C>A
n.2403C>A
c.2842-240C>A (n.2842-240C>A)
17g.44374711G>ACA399790867ITGA2Bc.2891C>T (p.Ser964Phe)
c.2322C>T
c.253+1122C>T
n.2402C>T
c.2842-241C>T (n.2842-241C>T)
 dbSNP
17g.44374711G>CCA399790868ITGA2Bc.2891C>G (p.Ser964Cys)
c.2322C>G
c.253+1122C>G
n.2402C>G
c.2842-241C>G (n.2842-241C>G)
17g.44374711G>TCA399790869ITGA2Bc.2891C>A (p.Ser964Tyr)
c.2322C>A
c.253+1122C>A
n.2402C>A
c.2842-241C>A (n.2842-241C>A)
17g.44374712A=CA2261365376ITGA2Bc.2890T= (p.Ser964=)
c.2321T=
c.253+1121T=
n.2401T=
c.2842-242T= (n.2842-242T=)
17g.44374712A>CCA399790872ITGA2Bc.2890T>G (p.Ser964Ala)
c.2321T>G
c.253+1121T>G
n.2401T>G
c.2842-242T>G (n.2842-242T>G)
17g.44374712A>GCA399790876ITGA2Bc.2890T>C (p.Ser964Pro)
c.2321T>C
c.253+1121T>C
n.2401T>C
c.2842-242T>C (n.2842-242T>C)
17g.44374712A>TCA8602541ITGA2Bc.2890T>A (p.Ser964Thr)
c.2321T>A
c.253+1121T>A
n.2401T>A
c.2842-242T>A (n.2842-242T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched