Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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
17g.44374713C>ACA500262646ITGA2Bc.2889G>T (p.Val963=)
c.2320G>T
c.253+1120G>T
n.2400G>T
c.2842-243G>T (n.2842-243G>T)
17g.44374713C>GCA500262644ITGA2Bc.2889G>C (p.Val963=)
c.2320G>C
c.253+1120G>C
n.2400G>C
c.2842-243G>C (n.2842-243G>C)
17g.44374713C>TCA500262642ITGA2Bc.2889G>A (p.Val963=)
c.2320G>A
c.253+1120G>A
n.2400G>A
c.2842-243G>A (n.2842-243G>A)
17g.44374714A>CCA399790886ITGA2Bc.2888T>G (p.Val963Gly)
c.2319T>G
c.253+1119T>G
n.2399T>G
c.2842-244T>G (n.2842-244T>G)
17g.44374714A>GCA399790890ITGA2Bc.2888T>C (p.Val963Ala)
c.2319T>C
c.253+1119T>C
n.2399T>C
c.2842-244T>C (n.2842-244T>C)
17g.44374714A>TCA399790907ITGA2Bc.2888T>A (p.Val963Glu)
c.2319T>A
c.253+1119T>A
n.2399T>A
c.2842-244T>A (n.2842-244T>A)
17g.44374715C>ACA399790925ITGA2Bc.2887G>T (p.Val963Leu)
c.2318G>T
c.253+1118G>T
n.2398G>T
c.2842-245G>T (n.2842-245G>T)
17g.44374715C=CA2261365377ITGA2Bc.2887G= (p.Val963=)
c.2318G=
c.253+1118G=
n.2398G=
c.2842-245G= (n.2842-245G=)
17g.44374715C>GCA399790917ITGA2Bc.2887G>C (p.Val963Leu)
c.2318G>C
c.253+1118G>C
n.2398G>C
c.2842-245G>C (n.2842-245G>C)
 gnomAD v4
17g.44374715C>TCA399790920ITGA2Bc.2887G>A (p.Val963Met)
c.2318G>A
c.253+1118G>A
n.2398G>A
c.2842-245G>A (n.2842-245G>A)
 dbSNP gnomAD v4
17g.44374716G>ACA500262653ITGA2Bc.2886C>T (p.Asn962=)
c.2317C>T
c.253+1117C>T
n.2397C>T
c.2842-246C>T (n.2842-246C>T)
 gnomAD v4
17g.44374716G>CCA399790929ITGA2Bc.2886C>G (p.Asn962Lys)
c.2317C>G
c.253+1117C>G
n.2397C>G
c.2842-246C>G (n.2842-246C>G)
17g.44374716G>TCA399790930ITGA2Bc.2886C>A (p.Asn962Lys)
c.2317C>A
c.253+1117C>A
n.2397C>A
c.2842-246C>A (n.2842-246C>A)
17g.44374717T>ACA399790933ITGA2Bc.2885A>T (p.Asn962Ile)
c.2316A>T
c.253+1116A>T
n.2396A>T
c.2842-247A>T (n.2842-247A>T)
17g.44374717T>CCA399790936ITGA2Bc.2885A>G (p.Asn962Ser)
c.2316A>G
c.253+1116A>G
n.2396A>G
c.2842-247A>G (n.2842-247A>G)
17g.44374717T>GCA399790941ITGA2Bc.2885A>C (p.Asn962Thr)
c.2316A>C
c.253+1116A>C
n.2396A>C
c.2842-247A>C (n.2842-247A>C)
17g.44374718T>ACA399790945ITGA2Bc.2884A>T (p.Asn962Tyr)
c.2315A>T
c.253+1115A>T
n.2395A>T
c.2842-248A>T (n.2842-248A>T)
17g.44374718T>CCA399790946ITGA2Bc.2884A>G (p.Asn962Asp)
c.2315A>G
c.253+1115A>G
n.2395A>G
c.2842-248A>G (n.2842-248A>G)
17g.44374718T>GCA399790947ITGA2Bc.2884A>C (p.Asn962His)
c.2315A>C
c.253+1115A>C
n.2395A>C
c.2842-248A>C (n.2842-248A>C)
17g.44374718_44374719delinsTGCA2261365378ITGA2Bc.2883_2884delinsCA (p.Phe961=)
c.2314_2315delinsCA
c.253+1114_253+1115delinsCA
n.2394_2395delinsCA
c.2842-249_2842-248delinsCA (n.2842-249_2842-248delinsCA)
17g.44374719delCA915940799ITGA2Bc.2883del (p.Phe961LeufsTer?)
c.2314del
c.253+1114del
n.2394del
c.2842-249del (n.2842-249del)
 ClinVar dbSNP
17g.44374719G>ACA500262660ITGA2Bc.2883C>T (p.Phe961=)
c.2314C>T
c.253+1114C>T
n.2394C>T
c.2842-249C>T (n.2842-249C>T)
 gnomAD v4
17g.44374719G>CCA399790949ITGA2Bc.2883C>G (p.Phe961Leu)
c.2314C>G
c.253+1114C>G
n.2394C>G
c.2842-249C>G (n.2842-249C>G)
17g.44374719G>TCA399790952ITGA2Bc.2883C>A (p.Phe961Leu)
c.2314C>A
c.253+1114C>A
n.2394C>A
c.2842-249C>A (n.2842-249C>A)
17g.44374720A=CA2261365379ITGA2Bc.2882T= (p.Phe961=)
c.2313T=
c.253+1113T=
n.2393T=
c.2842-250T= (n.2842-250T=)
17g.44374720A>CCA8602542ITGA2Bc.2882T>G (p.Phe961Cys)
c.2313T>G
c.253+1113T>G
n.2393T>G
c.2842-250T>G (n.2842-250T>G)
 dbSNP ExAC gnomAD v2
17g.44374720A>GCA399790953ITGA2Bc.2882T>C (p.Phe961Ser)
c.2313T>C
c.253+1113T>C
n.2393T>C
c.2842-250T>C (n.2842-250T>C)
17g.44374720A>TCA399790956ITGA2Bc.2882T>A (p.Phe961Tyr)
c.2313T>A
c.253+1113T>A
n.2393T>A
c.2842-250T>A (n.2842-250T>A)
17g.44374721A>CCA399790962ITGA2Bc.2881T>G (p.Phe961Val)
c.2312T>G
c.253+1112T>G
n.2392T>G
c.2842-251T>G (n.2842-251T>G)
17g.44374721A>GCA399790960ITGA2Bc.2881T>C (p.Phe961Leu)
c.2312T>C
c.253+1112T>C
n.2392T>C
c.2842-251T>C (n.2842-251T>C)
17g.44374721A>TCA399790961ITGA2Bc.2881T>A (p.Phe961Ile)
c.2312T>A
c.253+1112T>A
n.2392T>A
c.2842-251T>A (n.2842-251T>A)
17g.44374722C>ACA399790965ITGA2Bc.2880G>T (p.Trp960Cys)
c.2311G>T
c.253+1111G>T
n.2391G>T
c.2842-252G>T (n.2842-252G>T)
17g.44374722C=CA2261365380ITGA2Bc.2880G= (p.Trp960=)
c.2311G=
c.253+1111G=
n.2391G=
c.2842-252G= (n.2842-252G=)
17g.44374722C>GCA399790966ITGA2Bc.2880G>C (p.Trp960Cys)
c.2311G>C
c.253+1111G>C
n.2391G>C
c.2842-252G>C (n.2842-252G>C)
17g.44374722C>TCA399790971ITGA2Bc.2880G>A (p.Trp960Ter)
c.2311G>A
c.253+1111G>A
n.2391G>A
c.2842-252G>A (n.2842-252G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.44374723C>ACA399790978ITGA2Bc.2879G>T (p.Trp960Leu)
c.2310G>T
c.253+1110G>T
n.2390G>T
c.2842-253G>T (n.2842-253G>T)
17g.44374723C>GCA399790982ITGA2Bc.2879G>C (p.Trp960Ser)
c.2310G>C
c.253+1110G>C
n.2390G>C
c.2842-253G>C (n.2842-253G>C)
17g.44374723C>TCA399790985ITGA2Bc.2879G>A (p.Trp960Ter)
c.2310G>A
c.253+1110G>A
n.2390G>A
c.2842-253G>A (n.2842-253G>A)
17g.44374724A=CA2261365381ITGA2Bc.2878T= (p.Trp960=)
c.2309T=
c.253+1109T=
n.2389T=
c.2842-254T= (n.2842-254T=)
17g.44374724A>CCA399790990ITGA2Bc.2878T>G (p.Trp960Gly)
c.2309T>G
c.253+1109T>G
n.2389T>G
c.2842-254T>G (n.2842-254T>G)
 gnomAD v4
17g.44374724A>GCA399790993ITGA2Bc.2878T>C (p.Trp960Arg)
c.2309T>C
c.253+1109T>C
n.2389T>C
c.2842-254T>C (n.2842-254T>C)
17g.44374724A>TCA399790998ITGA2Bc.2878T>A (p.Trp960Arg)
c.2309T>A
c.253+1109T>A
n.2389T>A
c.2842-254T>A (n.2842-254T>A)
 dbSNP
17g.44374725T>ACA500262675ITGA2Bc.2877A>T (p.Ala959=)
c.2308A>T
c.253+1108A>T
n.2388A>T
c.2842-255A>T (n.2842-255A>T)
 dbSNP
17g.44374725T>CCA500262678ITGA2Bc.2877A>G (p.Ala959=)
c.2308A>G
c.253+1108A>G
n.2388A>G
c.2842-255A>G (n.2842-255A>G)
 gnomAD v4
17g.44374725T>GCA500262679ITGA2Bc.2877A>C (p.Ala959=)
c.2308A>C
c.253+1108A>C
n.2388A>C
c.2842-255A>C (n.2842-255A>C)
17g.44374725T=CA2261365382ITGA2Bc.2877A= (p.Ala959=)
c.2308A=
c.253+1108A=
n.2388A=
c.2842-255A= (n.2842-255A=)
17g.44374729_44374732delCA2576290898ITGA2Bc.2874_2877del (p.Ala959GlyfsTer?)
c.2305_2308del
c.253+1105_253+1108del
n.2385_2388del
c.2842-258_2842-255del (n.2842-258_2842-255del)
 gnomAD v4
17g.44374726G>ACA399791006ITGA2Bc.2876C>T (p.Ala959Val)
c.2307C>T
c.253+1107C>T
n.2387C>T
c.2842-256C>T (n.2842-256C>T)
17g.44374726G>CCA399791013ITGA2Bc.2876C>G (p.Ala959Gly)
c.2307C>G
c.253+1107C>G
n.2387C>G
c.2842-256C>G (n.2842-256C>G)
17g.44374726G>TCA399791020ITGA2Bc.2876C>A (p.Ala959Glu)
c.2307C>A
c.253+1107C>A
n.2387C>A
c.2842-256C>A (n.2842-256C>A)
17g.44374727C>ACA8602543ITGA2Bc.2875G>T (p.Ala959Ser)
c.2306G>T
c.253+1106G>T
n.2386G>T
c.2842-257G>T (n.2842-257G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374727C=CA2261365383ITGA2Bc.2875G= (p.Ala959=)
c.2306G=
c.253+1106G=
n.2386G=
c.2842-257G= (n.2842-257G=)
17g.44374727C>GCA399791040ITGA2Bc.2875G>C (p.Ala959Pro)
c.2306G>C
c.253+1106G>C
n.2386G>C
c.2842-257G>C (n.2842-257G>C)
17g.44374727C>TCA399791037ITGA2Bc.2875G>A (p.Ala959Thr)
c.2306G>A
c.253+1106G>A
n.2386G>A
c.2842-257G>A (n.2842-257G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44374728G>ACA500262687ITGA2Bc.2874C>T (p.His958=)
c.2305C>T
c.253+1105C>T
n.2385C>T
c.2842-258C>T (n.2842-258C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.44374728G>CCA8602544ITGA2Bc.2874C>G (p.His958Gln)
c.2305C>G
c.253+1105C>G
n.2385C>G
c.2842-258C>G (n.2842-258C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374728G=CA2261365384ITGA2Bc.2874C= (p.His958=)
c.2305C=
c.253+1105C=
n.2385C=
c.2842-258C= (n.2842-258C=)
17g.44374728G>TCA399791047ITGA2Bc.2874C>A (p.His958Gln)
c.2305C>A
c.253+1105C>A
n.2385C>A
c.2842-258C>A (n.2842-258C>A)
 dbSNP gnomAD v4
17g.44374729T>ACA8602545ITGA2Bc.2873A>T (p.His958Leu)
c.2304A>T
c.253+1104A>T
n.2384A>T
c.2842-259A>T (n.2842-259A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374729T>CCA399791058ITGA2Bc.2873A>G (p.His958Arg)
c.2304A>G
c.253+1104A>G
n.2384A>G
c.2842-259A>G (n.2842-259A>G)
17g.44374729T>GCA399791064ITGA2Bc.2873A>C (p.His958Pro)
c.2304A>C
c.253+1104A>C
n.2384A>C
c.2842-259A>C (n.2842-259A>C)
17g.44374729T=CA2261365385ITGA2Bc.2873A= (p.His958=)
c.2304A=
c.253+1104A=
n.2384A=
c.2842-259A= (n.2842-259A=)
17g.44374730G>ACA399791068ITGA2Bc.2872C>T (p.His958Tyr)
c.2303C>T
c.253+1103C>T
n.2383C>T
c.2842-260C>T (n.2842-260C>T)
17g.44374730G>CCA399791072ITGA2Bc.2872C>G (p.His958Asp)
c.2303C>G
c.253+1103C>G
n.2383C>G
c.2842-260C>G (n.2842-260C>G)
17g.44374730G>TCA399791078ITGA2Bc.2872C>A (p.His958Asn)
c.2303C>A
c.253+1103C>A
n.2383C>A
c.2842-260C>A (n.2842-260C>A)
 gnomAD v4
17g.44374731C>ACA500262696ITGA2Bc.2871G>T (p.Ser957=)
c.2302G>T
c.253+1102G>T
n.2382G>T
c.2842-261G>T (n.2842-261G>T)
17g.44374731C=CA2261365386ITGA2Bc.2871G= (p.Ser957=)
c.2302G=
c.253+1102G=
n.2382G=
c.2842-261G= (n.2842-261G=)
17g.44374731C>GCA8602547ITGA2Bc.2871G>C (p.Ser957=)
c.2302G>C
c.253+1102G>C
n.2382G>C
c.2842-261G>C (n.2842-261G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374731C>TCA8602546ITGA2Bc.2871G>A (p.Ser957=)
c.2302G>A
c.253+1102G>A
n.2382G>A
c.2842-261G>A (n.2842-261G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374732G>ACA115850ITGA2Bc.2870C>T (p.Ser957Leu)
c.2301C>T
c.253+1101C>T
n.2381C>T
c.2842-262C>T (n.2842-262C>T)
 ClinVar dbSNP gnomAD v4
17g.44374732G>CCA399791096ITGA2Bc.2870C>G (p.Ser957Trp)
c.2301C>G
c.253+1101C>G
n.2381C>G
c.2842-262C>G (n.2842-262C>G)
17g.44374732G=CA2261365387ITGA2Bc.2870C= (p.Ser957=)
c.2301C=
c.253+1101C=
n.2381C=
c.2842-262C= (n.2842-262C=)
17g.44374732G>TCA399791098ITGA2Bc.2870C>A (p.Ser957Ter)
c.2301C>A
c.253+1101C>A
n.2381C>A
c.2842-262C>A (n.2842-262C>A)
17g.44374733A>CCA399791103ITGA2Bc.2869T>G (p.Ser957Ala)
c.2300T>G
c.253+1100T>G
n.2380T>G
c.2842-263T>G (n.2842-263T>G)
17g.44374733A>GCA399791106ITGA2Bc.2869T>C (p.Ser957Pro)
c.2300T>C
c.253+1100T>C
n.2380T>C
c.2842-263T>C (n.2842-263T>C)
17g.44374733A>TCA399791120ITGA2Bc.2869T>A (p.Ser957Thr)
c.2300T>A
c.253+1100T>A
n.2380T>A
c.2842-263T>A (n.2842-263T>A)
17g.44374734C>ACA399791133ITGA2Bc.2868G>T (p.Gln956His)
c.2299G>T
c.253+1099G>T
n.2379G>T
c.2842-264G>T (n.2842-264G>T)
17g.44374734C=CA2261365388ITGA2Bc.2868G= (p.Gln956=)
c.2299G=
c.253+1099G=
n.2379G=
c.2842-264G= (n.2842-264G=)
17g.44374734C>GCA399791132ITGA2Bc.2868G>C (p.Gln956His)
c.2299G>C
c.253+1099G>C
n.2379G>C
c.2842-264G>C (n.2842-264G>C)
 dbSNP
17g.44374734C>TCA500262719ITGA2Bc.2868G>A (p.Gln956=)
c.2299G>A
c.253+1099G>A
n.2379G>A
c.2842-264G>A (n.2842-264G>A)
17g.44374735T>ACA399791136ITGA2Bc.2867A>T (p.Gln956Leu)
c.2298A>T
c.253+1098A>T
n.2378A>T
c.2841+263A>T (n.2841+263A>T)
17g.44374735T>CCA399791140ITGA2Bc.2867A>G (p.Gln956Arg)
c.2298A>G
c.253+1098A>G
n.2378A>G
c.2841+263A>G (n.2841+263A>G)
17g.44374735T>GCA399791148ITGA2Bc.2867A>C (p.Gln956Pro)
c.2298A>C
c.253+1098A>C
n.2378A>C
c.2841+263A>C (n.2841+263A>C)
 gnomAD v4
17g.44374736G>ACA399791156ITGA2Bc.2866C>T (p.Gln956Ter)
c.2297C>T
c.253+1097C>T
n.2377C>T
c.2841+262C>T (n.2841+262C>T)
17g.44374736G>CCA399791160ITGA2Bc.2866C>G (p.Gln956Glu)
c.2297C>G
c.253+1097C>G
n.2377C>G
c.2841+262C>G (n.2841+262C>G)
17g.44374736G>TCA399791162ITGA2Bc.2866C>A (p.Gln956Lys)
c.2297C>A
c.253+1097C>A
n.2377C>A
c.2841+262C>A (n.2841+262C>A)
17g.44374737C>ACA500262754ITGA2Bc.2865G>T (p.Leu955=)
c.2296G>T
c.253+1096G>T
n.2376G>T
c.2841+261G>T (n.2841+261G>T)
17g.44374737C=CA2261365389ITGA2Bc.2865G= (p.Leu955=)
c.2296G=
c.253+1096G=
n.2376G=
c.2841+261G= (n.2841+261G=)
17g.44374737C>GCA8602548ITGA2Bc.2865G>C (p.Leu955=)
c.2296G>C
c.253+1096G>C
n.2376G>C
c.2841+261G>C (n.2841+261G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374737C>TCA500262760ITGA2Bc.2865G>A (p.Leu955=)
c.2296G>A
c.253+1096G>A
n.2376G>A
c.2841+261G>A (n.2841+261G>A)
17g.44374738A=CA2261365390ITGA2Bc.2864T= (p.Leu955=)
c.2295T=
c.253+1095T=
n.2375T=
c.2841+260T= (n.2841+260T=)
17g.44374738A>CCA399791166ITGA2Bc.2864T>G (p.Leu955Arg)
c.2295T>G
c.253+1095T>G
n.2375T>G
c.2841+260T>G (n.2841+260T>G)
17g.44374738A>GCA399791169ITGA2Bc.2864T>C (p.Leu955Pro)
c.2295T>C
c.253+1095T>C
n.2375T>C
c.2841+260T>C (n.2841+260T>C)
17g.44374738A>TCA399791171ITGA2Bc.2864T>A (p.Leu955Gln)
c.2295T>A
c.253+1095T>A
n.2375T>A
c.2841+260T>A (n.2841+260T>A)
 ClinVar dbSNP
17g.44374739G>ACA500262769ITGA2Bc.2863C>T (p.Leu955=)
c.2294C>T
c.253+1094C>T
n.2374C>T
c.2841+259C>T (n.2841+259C>T)
17g.44374739G>CCA399791179ITGA2Bc.2863C>G (p.Leu955Val)
c.2294C>G
c.253+1094C>G
n.2374C>G
c.2841+259C>G (n.2841+259C>G)
17g.44374739G>TCA399791183ITGA2Bc.2863C>A (p.Leu955Met)
c.2294C>A
c.253+1094C>A
n.2374C>A
c.2841+259C>A (n.2841+259C>A)
17g.44374740C>ACA500262774ITGA2Bc.2862G>T (p.Val954=)
c.2293G>T
c.253+1093G>T
n.2373G>T
c.2841+258G>T (n.2841+258G>T)
17g.44374740C=CA2261365391ITGA2Bc.2862G= (p.Val954=)
c.2293G=
c.253+1093G=
n.2373G=
c.2841+258G= (n.2841+258G=)
17g.44374740C>GCA500262775ITGA2Bc.2862G>C (p.Val954=)
c.2293G>C
c.253+1093G>C
n.2373G>C
c.2841+258G>C (n.2841+258G>C)
17g.44374740C>TCA8602549ITGA2Bc.2862G>A (p.Val954=)
c.2293G>A
c.253+1093G>A
n.2373G>A
c.2841+258G>A (n.2841+258G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374741A>CCA399791194ITGA2Bc.2861T>G (p.Val954Gly)
c.2292T>G
c.253+1092T>G
n.2372T>G
c.2841+257T>G (n.2841+257T>G)
17g.44374741A>GCA399791197ITGA2Bc.2861T>C (p.Val954Ala)
c.2292T>C
c.253+1092T>C
n.2372T>C
c.2841+257T>C (n.2841+257T>C)
17g.44374741A>TCA399791195ITGA2Bc.2861T>A (p.Val954Glu)
c.2292T>A
c.253+1092T>A
n.2372T>A
c.2841+257T>A (n.2841+257T>A)
17g.44374742C>ACA399791205ITGA2Bc.2860G>T (p.Val954Leu)
c.2291G>T
c.253+1091G>T
n.2371G>T
c.2841+256G>T (n.2841+256G>T)
17g.44374742C>GCA399791210ITGA2Bc.2860G>C (p.Val954Leu)
c.2291G>C
c.253+1091G>C
n.2371G>C
c.2841+256G>C (n.2841+256G>C)
17g.44374742C>TCA399791213ITGA2Bc.2860G>A (p.Val954Met)
c.2291G>A
c.253+1091G>A
n.2371G>A
c.2841+256G>A (n.2841+256G>A)
 gnomAD v4
17g.44374743A>CCA399791215ITGA2Bc.2859T>G (p.Phe953Leu)
c.2290T>G
c.253+1090T>G
n.2370T>G
c.2841+255T>G (n.2841+255T>G)
17g.44374743A>GCA500262786ITGA2Bc.2859T>C (p.Phe953=)
c.2290T>C
c.253+1090T>C
n.2370T>C
c.2841+255T>C (n.2841+255T>C)
17g.44374743A>TCA399791217ITGA2Bc.2859T>A (p.Phe953Leu)
c.2290T>A
c.253+1090T>A
n.2370T>A
c.2841+255T>A (n.2841+255T>A)
17g.44374744A>CCA399791222ITGA2Bc.2858T>G (p.Phe953Cys)
c.2289T>G
c.253+1089T>G
n.2369T>G
c.2841+254T>G (n.2841+254T>G)
17g.44374744A>GCA399791224ITGA2Bc.2858T>C (p.Phe953Ser)
c.2289T>C
c.253+1089T>C
n.2369T>C
c.2841+254T>C (n.2841+254T>C)
17g.44374744A>TCA399791227ITGA2Bc.2858T>A (p.Phe953Tyr)
c.2289T>A
c.253+1089T>A
n.2369T>A
c.2841+254T>A (n.2841+254T>A)
17g.44374745A>CCA399791231ITGA2Bc.2857T>G (p.Phe953Val)
c.2288T>G
c.253+1088T>G
n.2368T>G
c.2841+253T>G (n.2841+253T>G)
17g.44374745A>GCA399791236ITGA2Bc.2857T>C (p.Phe953Leu)
c.2288T>C
c.253+1088T>C
n.2368T>C
c.2841+253T>C (n.2841+253T>C)
17g.44374745A>TCA399791237ITGA2Bc.2857T>A (p.Phe953Ile)
c.2288T>A
c.253+1088T>A
n.2368T>A
c.2841+253T>A (n.2841+253T>A)
17g.44374746C>ACA399791240ITGA2Bc.2856G>T (p.Gln952His)
c.2287G>T
c.253+1087G>T
n.2367G>T
c.2841+252G>T (n.2841+252G>T)
17g.44374746C>GCA399791241ITGA2Bc.2856G>C (p.Gln952His)
c.2287G>C
c.253+1087G>C
n.2367G>C
c.2841+252G>C (n.2841+252G>C)
 gnomAD v4
17g.44374746C>TCA500262801ITGA2Bc.2856G>A (p.Gln952=)
c.2287G>A
c.253+1087G>A
n.2367G>A
c.2841+252G>A (n.2841+252G>A)
17g.44374747T>ACA399791242ITGA2Bc.2855A>T (p.Gln952Leu)
c.2286A>T
c.253+1086A>T
n.2366A>T
c.2841+251A>T (n.2841+251A>T)
17g.44374747T>CCA399791264ITGA2Bc.2855A>G (p.Gln952Arg)
c.2286A>G
c.253+1086A>G
n.2366A>G
c.2841+251A>G (n.2841+251A>G)
17g.44374747T>GCA399791259ITGA2Bc.2855A>C (p.Gln952Pro)
c.2286A>C
c.253+1086A>C
n.2366A>C
c.2841+251A>C (n.2841+251A>C)
17g.44374748G>ACA399791265ITGA2Bc.2854C>T (p.Gln952Ter)
c.2285C>T
c.253+1085C>T
n.2365C>T
c.2841+250C>T (n.2841+250C>T)
17g.44374748G>CCA399791266ITGA2Bc.2854C>G (p.Gln952Glu)
c.2285C>G
c.253+1085C>G
n.2365C>G
c.2841+250C>G (n.2841+250C>G)
17g.44374748G>TCA399791268ITGA2Bc.2854C>A (p.Gln952Lys)
c.2285C>A
c.253+1085C>A
n.2365C>A
c.2841+250C>A (n.2841+250C>A)
17g.44374748_44374750delinsGATCA2261365392ITGA2Bc.2852_2854delinsATC (p.Asp951=)
c.2283_2285delinsATC
c.253+1083_253+1085delinsATC
n.2363_2365delinsATC
c.2841+248_2841+250delinsATC (n.2841+248_2841+250delinsATC)
17g.44374749delCA2576290899ITGA2Bc.2853del (p.Gln952SerfsTer?)
c.2284del
c.253+1084del
n.2364del
c.2841+249del (n.2841+249del)
17g.44374749A>CCA399791277ITGA2Bc.2853T>G (p.Asp951Glu)
c.2284T>G
c.253+1084T>G
n.2364T>G
c.2841+249T>G (n.2841+249T>G)
17g.44374749A>GCA500262815ITGA2Bc.2853T>C (p.Asp951=)
c.2284T>C
c.253+1084T>C
n.2364T>C
c.2841+249T>C (n.2841+249T>C)
17g.44374749A>TCA399791278ITGA2Bc.2853T>A (p.Asp951Glu)
c.2284T>A
c.253+1084T>A
n.2364T>A
c.2841+249T>A (n.2841+249T>A)
17g.44374749_44374750delCA915940798ITGA2Bc.2852_2853del (p.Asp951AlafsTer?)
c.2283_2284del
c.253+1083_253+1084del
n.2363_2364del
c.2841+248_2841+249del (n.2841+248_2841+249del)
17g.44374749_44374750delinsGCA913187304ITGA2Bc.2852_2853delinsC (p.Asp951AlafsTer?)
c.2283_2284delinsC
c.253+1083_253+1084delinsC
n.2363_2364delinsC
c.2841+248_2841+249delinsC (n.2841+248_2841+249delinsC)
 ClinVar dbSNP
17g.44374750T>ACA399791279ITGA2Bc.2852A>T (p.Asp951Val)
c.2283A>T
c.253+1083A>T
n.2363A>T
c.2841+248A>T (n.2841+248A>T)
17g.44374750T>CCA399791281ITGA2Bc.2852A>G (p.Asp951Gly)
c.2283A>G
c.253+1083A>G
n.2363A>G
c.2841+248A>G (n.2841+248A>G)
17g.44374750T>GCA399791288ITGA2Bc.2852A>C (p.Asp951Ala)
c.2283A>C
c.253+1083A>C
n.2363A>C
c.2841+248A>C (n.2841+248A>C)
17g.44374751C>ACA399791289ITGA2Bc.2851G>T (p.Asp951Tyr)
c.2282G>T
c.253+1082G>T
n.2362G>T
c.2841+247G>T (n.2841+247G>T)
17g.44374751C>GCA399791291ITGA2Bc.2851G>C (p.Asp951His)
c.2282G>C
c.253+1082G>C
n.2362G>C
c.2841+247G>C (n.2841+247G>C)
17g.44374751C>TCA399791294ITGA2Bc.2851G>A (p.Asp951Asn)
c.2282G>A
c.253+1082G>A
n.2362G>A
c.2841+247G>A (n.2841+247G>A)
17g.44374752C>ACA500262837ITGA2Bc.2850G>T (p.Leu950=)
c.2281G>T
c.253+1081G>T
n.2361G>T
c.2841+246G>T (n.2841+246G>T)
17g.44374752C=CA2261365393ITGA2Bc.2850G= (p.Leu950=)
c.2281G=
c.253+1081G=
n.2361G=
c.2841+246G= (n.2841+246G=)
17g.44374752C>GCA500262840ITGA2Bc.2850G>C (p.Leu950=)
c.2281G>C
c.253+1081G>C
n.2361G>C
c.2841+246G>C (n.2841+246G>C)
17g.44374752C>TCA8602550ITGA2Bc.2850G>A (p.Leu950=)
c.2281G>A
c.253+1081G>A
n.2361G>A
c.2841+246G>A (n.2841+246G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44374753A>CCA399791299ITGA2Bc.2849T>G (p.Leu950Arg)
c.2280T>G
c.253+1080T>G
n.2360T>G
c.2841+245T>G (n.2841+245T>G)
17g.44374753A>GCA399791297ITGA2Bc.2849T>C (p.Leu950Pro)
c.2280T>C
c.253+1080T>C
n.2360T>C
c.2841+245T>C (n.2841+245T>C)
17g.44374753A>TCA399791302ITGA2Bc.2849T>A (p.Leu950Gln)
c.2280T>A
c.253+1080T>A
n.2360T>A
c.2841+245T>A (n.2841+245T>A)
17g.44374754G>ACA500262854ITGA2Bc.2848C>T (p.Leu950=)
c.2279C>T
c.253+1079C>T
n.2359C>T
c.2841+244C>T (n.2841+244C>T)
17g.44374754G>CCA399791305ITGA2Bc.2848C>G (p.Leu950Val)
c.2279C>G
c.253+1079C>G
n.2359C>G
c.2841+244C>G (n.2841+244C>G)
17g.44374754G>TCA399791306ITGA2Bc.2848C>A (p.Leu950Met)
c.2279C>A
c.253+1079C>A
n.2359C>A
c.2841+244C>A (n.2841+244C>A)
17g.44374755A>CCA500262861ITGA2Bc.2847T>G (p.Pro949=)
c.2278T>G
c.253+1078T>G
n.2358T>G
c.2841+243T>G (n.2841+243T>G)
17g.44374755A>GCA500262862ITGA2Bc.2847T>C (p.Pro949=)
c.2278T>C
c.253+1078T>C
n.2358T>C
c.2841+243T>C (n.2841+243T>C)
17g.44374755A>TCA500262867ITGA2Bc.2847T>A (p.Pro949=)
c.2278T>A
c.253+1078T>A
n.2358T>A
c.2841+243T>A (n.2841+243T>A)
17g.44374756G>ACA399791307ITGA2Bc.2846C>T (p.Pro949Leu)
c.2277C>T
c.253+1077C>T
n.2357C>T
c.2841+242C>T (n.2841+242C>T)
 dbSNP
17g.44374756G>CCA399791310ITGA2Bc.2846C>G (p.Pro949Arg)
c.2277C>G
c.253+1077C>G
n.2357C>G
c.2841+242C>G (n.2841+242C>G)
17g.44374756G=CA2261365394ITGA2Bc.2846C= (p.Pro949=)
c.2277C=
c.253+1077C=
n.2357C=
c.2841+242C= (n.2841+242C=)
17g.44374756G>TCA399791324ITGA2Bc.2846C>A (p.Pro949His)
c.2277C>A
c.253+1077C>A
n.2357C>A
c.2841+242C>A (n.2841+242C>A)
17g.44374757G>ACA290946281ITGA2Bc.2845C>T (p.Pro949Ser)
c.2276C>T
c.253+1076C>T
n.2356C>T
c.2841+241C>T (n.2841+241C>T)
 dbSNP gnomAD v3 gnomAD v4
17g.44374757G>CCA399791327ITGA2Bc.2845C>G (p.Pro949Ala)
c.2276C>G
c.253+1076C>G
n.2356C>G
c.2841+241C>G (n.2841+241C>G)
17g.44374757G=CA2261365395ITGA2Bc.2845C= (p.Pro949=)
c.2276C=
c.253+1076C=
n.2356C=
c.2841+241C= (n.2841+241C=)
17g.44374757G>TCA399791328ITGA2Bc.2845C>A (p.Pro949Thr)
c.2276C>A
c.253+1076C>A
n.2356C>A
c.2841+241C>A (n.2841+241C>A)
17g.44374758C>ACA399791331ITGA2Bc.2844G>T (p.Arg948Ser)
c.2275G>T
c.253+1075G>T
n.2355G>T
c.2841+240G>T (n.2841+240G>T)
 gnomAD v4
17g.44374758C>GCA399791338ITGA2Bc.2844G>C (p.Arg948Ser)
c.2275G>C
c.253+1075G>C
n.2355G>C
c.2841+240G>C (n.2841+240G>C)
17g.44374758C>TCA500262874ITGA2Bc.2844G>A (p.Arg948=)
c.2275G>A
c.253+1075G>A
n.2355G>A
c.2841+240G>A (n.2841+240G>A)
 gnomAD v4
17g.44374759C>ACA399791344ITGA2Bc.2843G>T (p.Arg948Met)
c.2274G>T
c.253+1074G>T
n.2354G>T
c.2841+239G>T (n.2841+239G>T)
17g.44374759C>GCA399791346ITGA2Bc.2843G>C (p.Arg948Thr)
c.2274G>C
c.253+1074G>C
n.2354G>C
c.2841+239G>C (n.2841+239G>C)
17g.44374759C>TCA399791348ITGA2Bc.2843G>A (p.Arg948Lys)
c.2274G>A
c.253+1074G>A
n.2354G>A
c.2841+239G>A (n.2841+239G>A)
 gnomAD v4
17g.44374760delCA915940797ITGA2Bc.2842del (p.Arg948GlyfsTer?)
c.2273del
c.253+1073del
n.2353del
c.2841+238del (n.2841+238del)
17g.44374760T>ACA399791355ITGA2Bc.2842A>T (p.Arg948Trp)
c.2273A>T
c.253+1073A>T
n.2353A>T
c.2841+238A>T (n.2841+238A>T)
17g.44374760T>CCA399791350ITGA2Bc.2842A>G (p.Arg948Gly)
c.2273A>G
c.253+1073A>G
n.2353A>G
c.2841+238A>G (n.2841+238A>G)
 gnomAD v4
17g.44374760T>GCA500262885ITGA2Bc.2842A>C (p.Arg948=)
c.2273A>C
c.253+1073A>C
n.2353A>C
c.2841+238A>C (n.2841+238A>C)
 dbSNP gnomAD v2 gnomAD v4
17g.44374760T=CA2261365396ITGA2Bc.2842A= (p.Arg948=)
c.2273A=
c.253+1073A=
n.2353A=
c.2841+238A= (n.2841+238A=)
17g.44374761C>ACA399791365ITGA2Bc.2842-1G>T (n.2842-1G>T)
c.2273-1G>T
c.253+1072G>T
n.2352G>T
c.2841+237G>T (n.2841+237G>T)
17g.44374761C>GCA399791378ITGA2Bc.2842-1G>C (n.2842-1G>C)
c.2273-1G>C
c.253+1072G>C
n.2352G>C
c.2841+237G>C (n.2841+237G>C)
 ClinVar
17g.44374761C>TCA399791385ITGA2Bc.2842-1G>A (n.2842-1G>A)
c.2273-1G>A
c.253+1072G>A
n.2352G>A
c.2841+237G>A (n.2841+237G>A)
17g.44374762T>ACA399791392ITGA2Bc.2842-2A>T (n.2842-2A>T)
c.2273-2A>T
c.253+1071A>T
n.2351A>T
c.2841+236A>T (n.2841+236A>T)
17g.44374762T>CCA399791399ITGA2Bc.2842-2A>G (n.2842-2A>G)
c.2273-2A>G
c.253+1071A>G
n.2351A>G
c.2841+236A>G (n.2841+236A>G)
17g.44374762T>GCA399791402ITGA2Bc.2842-2A>C (n.2842-2A>C)
c.2273-2A>C
c.253+1071A>C
n.2351A>C
c.2841+236A>C (n.2841+236A>C)
17g.44374764G>CCA2576290900ITGA2Bc.2842-4C>G (n.2842-4C>G)
c.2273-4C>G
c.253+1069C>G
n.2349C>G
c.2841+234C>G (n.2841+234C>G)
17g.44374765_44374766insTCA2576290901ITGA2Bc.2842-6_2842-5insA (n.2842-6_2842-5insA)
c.2273-6_2273-5insA
c.253+1067_253+1068insA
n.2347_2348insA
c.2841+232_2841+233insA (n.2841+232_2841+233insA)
 gnomAD v4
17g.44374767_44374773delinsAGGTTGGCA2261365397ITGA2Bc.2842-13_2842-7delinsCCAACCT (n.2842-13_2842-7delinsCCAACCT)
c.2273-13_2273-7delinsCCAACCT
c.253+1060_253+1066delinsCCAACCT
n.2340_2346delinsCCAACCT
c.2841+225_2841+231delinsCCAACCT (n.2841+225_2841+231delinsCCAACCT)
17g.44374773_44374778delCA290946287ITGA2Bc.2842-13_2842-8del (n.2842-13_2842-8del)
c.2273-13_2273-8del
c.253+1060_253+1065del
n.2340_2345del
c.2841+225_2841+230del (n.2841+225_2841+230del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44374769G>ACA2638214857ITGA2Bc.2842-9C>T (n.2842-9C>T)
c.2273-9C>T
c.253+1064C>T
n.2344C>T
c.2841+229C>T (n.2841+229C>T)
 gnomAD v4
17g.44374769G>TCA2638214858ITGA2Bc.2842-9C>A (n.2842-9C>A)
c.2273-9C>A
c.253+1064C>A
n.2344C>A
c.2841+229C>A (n.2841+229C>A)
 gnomAD v4
17g.44374770T>CCA772285430ITGA2Bc.2842-10A>G (n.2842-10A>G)
c.2273-10A>G
c.253+1063A>G
n.2343A>G
c.2841+228A>G (n.2841+228A>G)
 dbSNP gnomAD v3 gnomAD v4
17g.44374770T=CA2261365398ITGA2Bc.2842-10A= (n.2842-10A=)
c.2273-10A=
c.253+1063A=
n.2343A=
c.2841+228A= (n.2841+228A=)
17g.44374771_44374772delinsTGCA2261365399ITGA2Bc.2842-12_2842-11delinsCA (n.2842-12_2842-11delinsCA)
c.2273-12_2273-11delinsCA
c.253+1061_253+1062delinsCA
n.2341_2342delinsCA
c.2841+226_2841+227delinsCA (n.2841+226_2841+227delinsCA)
17g.44374772G>ACA290946297ITGA2Bc.2842-12C>T (n.2842-12C>T)
c.2273-12C>T
c.253+1061C>T
n.2341C>T
c.2841+226C>T (n.2841+226C>T)
 dbSNP
17g.44374772G=CA2261365400ITGA2Bc.2842-12C= (n.2842-12C=)
c.2273-12C=
c.253+1061C=
n.2341C=
c.2841+226C= (n.2841+226C=)
17g.44374775delCA772285431ITGA2Bc.2842-12del (n.2842-12del)
c.2273-12del
c.253+1061del
n.2341del
c.2841+226del (n.2841+226del)
 dbSNP gnomAD v3 gnomAD v4
17g.44374773G>ACA8602551ITGA2Bc.2842-13C>T (n.2842-13C>T)
c.2273-13C>T
c.253+1060C>T
n.2340C>T
c.2841+225C>T (n.2841+225C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374773G=CA2261365401ITGA2Bc.2842-13C= (n.2842-13C=)
c.2273-13C=
c.253+1060C=
n.2340C=
c.2841+225C= (n.2841+225C=)
17g.44374774G>ACA2638214859ITGA2Bc.2842-14C>T (n.2842-14C>T)
c.2273-14C>T
c.253+1059C>T
n.2339C>T
c.2841+224C>T (n.2841+224C>T)
 gnomAD v4
17g.44374775G>ACA2809589770ITGA2Bc.2842-15C>T (n.2842-15C>T)
c.2273-15C>T
c.253+1058C>T
n.2338C>T
c.2841+223C>T (n.2841+223C>T)
17g.44374775G=CA2261365402ITGA2Bc.2842-15C= (n.2842-15C=)
c.2273-15C=
c.253+1058C=
n.2338C=
c.2841+223C= (n.2841+223C=)
17g.44374775G>TCA2261365403ITGA2Bc.2842-15C>A (n.2842-15C>A)
c.2273-15C>A
c.253+1058C>A
n.2338C>A
c.2841+223C>A (n.2841+223C>A)
 dbSNP gnomAD v4
17g.44374776T>ACA2638214860ITGA2Bc.2842-16A>T (n.2842-16A>T)
c.2273-16A>T
c.253+1057A>T
n.2337A>T
c.2841+222A>T (n.2841+222A>T)
 gnomAD v4

Number of alleles fetched