Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44374672_44374687delinsCGGGGCAGGCTGAGCG | CA2261365351 | ITGA2B | c.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) | |
17 | g.44374679_44374693del | CA983995027 | ITGA2B | c.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 |
17 | g.44374683G>A | CA8602529 | ITGA2B | c.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 |
17 | g.44374683G>C | CA500262540 | ITGA2B | c.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) | |
17 | g.44374683G= | CA2261365357 | ITGA2B | c.2919C= (p.Leu973=) c.2350C= c.253+1150C= c.13C= n.2430C= c.2842-213C= (n.2842-213C=) | |
17 | g.44374683G>T | CA500262545 | ITGA2B | c.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) | |
17 | g.44374684A= | CA2261365358 | ITGA2B | c.2918T= (p.Leu973=) c.2349T= c.253+1149T= c.12T= n.2429T= c.2842-214T= (n.2842-214T=) | |
17 | g.44374684A>C | CA399790621 | ITGA2B | c.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) | |
17 | g.44374684A>G | CA399790627 | ITGA2B | c.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 |
17 | g.44374684A>T | CA399790642 | ITGA2B | c.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) | |
17 | g.44374685G>A | CA399790646 | ITGA2B | c.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 |
17 | g.44374685G>C | CA399790650 | ITGA2B | c.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) | |
17 | g.44374685G= | CA2261365359 | ITGA2B | c.2917C= (p.Leu973=) c.2348C= c.253+1148C= c.11C= n.2428C= c.2842-215C= (n.2842-215C=) | |
17 | g.44374685G>T | CA399790654 | ITGA2B | c.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) | |
17 | g.44374685_44374687delinsGCG | CA2261365360 | ITGA2B | c.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) | |
17 | g.44374686C>A | CA500262556 | ITGA2B | c.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) | |
17 | g.44374686C= | CA2261365361 | ITGA2B | c.2916G= (p.Pro972=) c.2347G= c.253+1147G= c.10G= n.2427G= c.2842-216G= (n.2842-216G=) | |
17 | g.44374686C>G | CA500262557 | ITGA2B | c.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) | |
17 | g.44374686C>T | CA8602530 | ITGA2B | c.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 |
17 | g.44374686_44374687delinsA | CA1139665645 | ITGA2B | c.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 |
17 | g.44374687G>A | CA8602532 | ITGA2B | c.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 |
17 | g.44374687G>C | CA399790670 | ITGA2B | c.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 |
17 | g.44374687G= | CA2261365362 | ITGA2B | c.2915C= (p.Pro972=) c.2346C= c.253+1146C= c.9C= n.2426C= c.2842-217C= (n.2842-217C=) | |
17 | g.44374687G>T | CA399790673 | ITGA2B | c.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 |
17 | g.44374691dup | CA8602531 | ITGA2B | c.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 |
17 | g.44374691_44374704del | CA2638214856 | ITGA2B | c.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 |
17 | g.44374688G>A | CA8602533 | ITGA2B | c.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 |
17 | g.44374688G>C | CA399790680 | ITGA2B | c.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) | |
17 | g.44374688G= | CA2261365363 | ITGA2B | c.2914C= (p.Pro972=) c.2345C= c.253+1145C= c.8C= n.2425C= c.2842-218C= (n.2842-218C=) | |
17 | g.44374688G>T | CA399790682 | ITGA2B | c.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) | |
17 | g.44374689G>A | CA8602534 | ITGA2B | c.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 |
17 | g.44374689G>C | CA500262567 | ITGA2B | c.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 |
17 | g.44374689G= | CA2261365364 | ITGA2B | c.2913C= (p.Pro971=) c.2344C= c.253+1144C= c.7C= n.2424C= c.2842-219C= (n.2842-219C=) | |
17 | g.44374689G>T | CA500262565 | ITGA2B | c.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) | |
17 | g.44374690G>A | CA399790694 | ITGA2B | c.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) | |
17 | g.44374690G>C | CA399790699 | ITGA2B | c.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) | |
17 | g.44374690G= | CA2261365365 | ITGA2B | c.2912C= (p.Pro971=) c.2343C= c.253+1143C= c.6C= n.2423C= c.2842-220C= (n.2842-220C=) | |
17 | g.44374690G>T | CA290946182 | ITGA2B | c.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 |
17 | g.44374691G>A | CA399790706 | ITGA2B | c.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) | |
17 | g.44374691G>C | CA290946188 | ITGA2B | c.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 |
17 | g.44374691G= | CA2261365366 | ITGA2B | c.2911C= (p.Pro971=) c.2342C= c.253+1142C= c.5C= n.2422C= c.2842-221C= (n.2842-221C=) | |
17 | g.44374691G>T | CA399790709 | ITGA2B | c.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 |
17 | g.44374692C>A | CA500262570 | ITGA2B | c.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) | |
17 | g.44374692C>G | CA500262572 | ITGA2B | c.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) | |
17 | g.44374692C>T | CA500262573 | ITGA2B | c.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) | |
17 | g.44374693A= | CA2261365367 | ITGA2B | c.2909T= (p.Val970=) c.2340T= c.253+1140T= c.3T= n.2420T= c.2842-223T= (n.2842-223T=) | |
17 | g.44374693A>C | CA399790713 | ITGA2B | c.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) | |
17 | g.44374693A>G | CA8602535 | ITGA2B | c.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 |
17 | g.44374693A>T | CA399790710 | ITGA2B | c.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) | |
17 | g.44374694C>A | CA399790717 | ITGA2B | c.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 |
17 | g.44374694C= | CA2261365368 | ITGA2B | c.2908G= (p.Val970=) c.2339G= c.253+1139G= c.2G= n.2419G= c.2842-224G= (n.2842-224G=) | |
17 | g.44374694C>G | CA399790720 | ITGA2B | c.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) | |
17 | g.44374694C>T | CA399790721 | ITGA2B | c.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 |
17 | g.44374695C>A | CA500262583 | ITGA2B | c.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) | |
17 | g.44374695C= | CA2261365369 | ITGA2B | c.2907G= (p.Ala969=) c.2338G= c.253+1138G= c.1G= n.2418G= c.2842-225G= (n.2842-225G=) | |
17 | g.44374695C>G | CA8602536 | ITGA2B | c.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 |
17 | g.44374695C>T | CA8602537 | ITGA2B | c.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 |
17 | g.44374696G>A | CA8602538 | ITGA2B | c.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 |
17 | g.44374696G>C | CA399790729 | ITGA2B | c.2906C>G (p.Ala969Gly) c.2337C>G c.253+1137C>G n.2417C>G c.2842-226C>G (n.2842-226C>G) | |
17 | g.44374696G= | CA2261365370 | ITGA2B | c.2906C= (p.Ala969=) c.2337C= c.253+1137C= n.2417C= c.2842-226C= (n.2842-226C=) | |
17 | g.44374696G>T | CA399790744 | ITGA2B | c.2906C>A (p.Ala969Glu) c.2337C>A c.253+1137C>A n.2417C>A c.2842-226C>A (n.2842-226C>A) | |
17 | g.44374697C>A | CA8602540 | ITGA2B | c.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 |
17 | g.44374697C= | CA2261365371 | ITGA2B | c.2905G= (p.Ala969=) c.2336G= c.253+1136G= n.2416G= c.2842-227G= (n.2842-227G=) | |
17 | g.44374697C>G | CA399790754 | ITGA2B | c.2905G>C (p.Ala969Pro) c.2336G>C c.253+1136G>C n.2416G>C c.2842-227G>C (n.2842-227G>C) | |
17 | g.44374697C>T | CA8602539 | ITGA2B | c.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 |
17 | g.44374698A>C | CA399790764 | ITGA2B | c.2904T>G (p.Tyr968Ter) c.2335T>G c.253+1135T>G n.2415T>G c.2842-228T>G (n.2842-228T>G) | |
17 | g.44374698A>G | CA500262586 | ITGA2B | c.2904T>C (p.Tyr968=) c.2335T>C c.253+1135T>C n.2415T>C c.2842-228T>C (n.2842-228T>C) | |
17 | g.44374698A>T | CA399790771 | ITGA2B | c.2904T>A (p.Tyr968Ter) c.2335T>A c.253+1135T>A n.2415T>A c.2842-228T>A (n.2842-228T>A) | |
17 | g.44374699T>A | CA399790783 | ITGA2B | c.2903A>T (p.Tyr968Phe) c.2334A>T c.253+1134A>T n.2414A>T c.2842-229A>T (n.2842-229A>T) | |
17 | g.44374699T>C | CA399790777 | ITGA2B | c.2903A>G (p.Tyr968Cys) c.2334A>G c.253+1134A>G n.2414A>G c.2842-229A>G (n.2842-229A>G) | gnomAD v4 |
17 | g.44374699T>G | CA399790781 | ITGA2B | c.2903A>C (p.Tyr968Ser) c.2334A>C c.253+1134A>C n.2414A>C c.2842-229A>C (n.2842-229A>C) | |
17 | g.44374700del | CA915940332 | ITGA2B | c.2902del (p.Tyr968MetfsTer?) c.2333del c.253+1133del n.2413del c.2842-230del (n.2842-230del) | ClinVar dbSNP gnomAD v4 |
17 | g.44374700A= | CA2261365372 | ITGA2B | c.2902T= (p.Tyr968=) c.2333T= c.253+1133T= n.2413T= c.2842-230T= (n.2842-230T=) | |
17 | g.44374700A>C | CA399790789 | ITGA2B | c.2902T>G (p.Tyr968Asp) c.2333T>G c.253+1133T>G n.2413T>G c.2842-230T>G (n.2842-230T>G) | |
17 | g.44374700A>G | CA290946201 | ITGA2B | c.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 |
17 | g.44374700A>T | CA290946208 | ITGA2B | c.2902T>A (p.Tyr968Asn) c.2333T>A c.253+1133T>A n.2413T>A c.2842-230T>A (n.2842-230T>A) | dbSNP |
17 | g.44374704_44374708dup | CA915940725 | ITGA2B | c.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 |
17 | g.44374701G>A | CA500262592 | ITGA2B | c.2901C>T (p.Pro967=) c.2332C>T c.253+1132C>T n.2412C>T c.2842-231C>T (n.2842-231C>T) | |
17 | g.44374701G>C | CA500262594 | ITGA2B | c.2901C>G (p.Pro967=) c.2332C>G c.253+1132C>G n.2412C>G c.2842-231C>G (n.2842-231C>G) | dbSNP |
17 | g.44374701G= | CA2261365373 | ITGA2B | c.2901C= (p.Pro967=) c.2332C= c.253+1132C= n.2412C= c.2842-231C= (n.2842-231C=) | |
17 | g.44374701G>T | CA500262596 | ITGA2B | c.2901C>A (p.Pro967=) c.2332C>A c.253+1132C>A n.2412C>A c.2842-231C>A (n.2842-231C>A) | |
17 | g.44374702G>A | CA399790799 | ITGA2B | c.2900C>T (p.Pro967Leu) c.2331C>T c.253+1131C>T n.2411C>T c.2842-232C>T (n.2842-232C>T) | dbSNP |
17 | g.44374702G>C | CA399790803 | ITGA2B | c.2900C>G (p.Pro967Arg) c.2331C>G c.253+1131C>G n.2411C>G c.2842-232C>G (n.2842-232C>G) | gnomAD v4 |
17 | g.44374702G= | CA2261365374 | ITGA2B | c.2900C= (p.Pro967=) c.2331C= c.253+1131C= n.2411C= c.2842-232C= (n.2842-232C=) | |
17 | g.44374702G>T | CA399790807 | ITGA2B | c.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 |
17 | g.44374703G>A | CA399790820 | ITGA2B | c.2899C>T (p.Pro967Ser) c.2330C>T c.253+1130C>T n.2410C>T c.2842-233C>T (n.2842-233C>T) | COSMIC |
17 | g.44374703G>C | CA399790814 | ITGA2B | c.2899C>G (p.Pro967Ala) c.2330C>G c.253+1130C>G n.2410C>G c.2842-233C>G (n.2842-233C>G) | |
17 | g.44374703G>T | CA399790811 | ITGA2B | c.2899C>A (p.Pro967Thr) c.2330C>A c.253+1130C>A n.2410C>A c.2842-233C>A (n.2842-233C>A) | |
17 | g.44374704G>A | CA500262604 | ITGA2B | c.2898C>T (p.Leu966=) c.2329C>T c.253+1129C>T n.2409C>T c.2842-234C>T (n.2842-234C>T) | gnomAD v4 |
17 | g.44374704G>C | CA500262607 | ITGA2B | c.2898C>G (p.Leu966=) c.2329C>G c.253+1129C>G n.2409C>G c.2842-234C>G (n.2842-234C>G) | |
17 | g.44374704G>T | CA500262609 | ITGA2B | c.2898C>A (p.Leu966=) c.2329C>A c.253+1129C>A n.2409C>A c.2842-234C>A (n.2842-234C>A) | |
17 | g.44374705A>C | CA399790825 | ITGA2B | c.2897T>G (p.Leu966Arg) c.2328T>G c.253+1128T>G n.2408T>G c.2842-235T>G (n.2842-235T>G) | |
17 | g.44374705A>G | CA399790828 | ITGA2B | c.2897T>C (p.Leu966Pro) c.2328T>C c.253+1128T>C n.2408T>C c.2842-235T>C (n.2842-235T>C) | |
17 | g.44374705A>T | CA399790830 | ITGA2B | c.2897T>A (p.Leu966His) c.2328T>A c.253+1128T>A n.2408T>A c.2842-235T>A (n.2842-235T>A) | |
17 | g.44374706G>A | CA399790834 | ITGA2B | c.2896C>T (p.Leu966Phe) c.2327C>T c.253+1127C>T n.2407C>T c.2842-236C>T (n.2842-236C>T) | gnomAD v4 |
17 | g.44374706G>C | CA399790838 | ITGA2B | c.2896C>G (p.Leu966Val) c.2327C>G c.253+1127C>G n.2407C>G c.2842-236C>G (n.2842-236C>G) | gnomAD v4 |
17 | g.44374706G>T | CA399790842 | ITGA2B | c.2896C>A (p.Leu966Ile) c.2327C>A c.253+1127C>A n.2407C>A c.2842-236C>A (n.2842-236C>A) | |
17 | g.44374707G>A | CA500262617 | ITGA2B | c.2895C>T (p.Ser965=) c.2326C>T c.253+1126C>T n.2406C>T c.2842-237C>T (n.2842-237C>T) | |
17 | g.44374707G>C | CA500262618 | ITGA2B | c.2895C>G (p.Ser965=) c.2326C>G c.253+1126C>G n.2406C>G c.2842-237C>G (n.2842-237C>G) | |
17 | g.44374707G>T | CA500262620 | ITGA2B | c.2895C>A (p.Ser965=) c.2326C>A c.253+1126C>A n.2406C>A c.2842-237C>A (n.2842-237C>A) | |
17 | g.44374708G>A | CA399790844 | ITGA2B | c.2894C>T (p.Ser965Phe) c.2325C>T c.253+1125C>T n.2405C>T c.2842-238C>T (n.2842-238C>T) | gnomAD v4 |
17 | g.44374708G>C | CA399790846 | ITGA2B | c.2894C>G (p.Ser965Cys) c.2325C>G c.253+1125C>G n.2405C>G c.2842-238C>G (n.2842-238C>G) | ClinVar dbSNP |
17 | g.44374708G= | CA2261365375 | ITGA2B | c.2894C= (p.Ser965=) c.2325C= c.253+1125C= n.2405C= c.2842-238C= (n.2842-238C=) | |
17 | g.44374708G>T | CA399790845 | ITGA2B | c.2894C>A (p.Ser965Tyr) c.2325C>A c.253+1125C>A n.2405C>A c.2842-238C>A (n.2842-238C>A) | |
17 | g.44374709A>C | CA399790854 | ITGA2B | c.2893T>G (p.Ser965Ala) c.2324T>G c.253+1124T>G n.2404T>G c.2842-239T>G (n.2842-239T>G) | |
17 | g.44374709A>G | CA399790858 | ITGA2B | c.2893T>C (p.Ser965Pro) c.2324T>C c.253+1124T>C n.2404T>C c.2842-239T>C (n.2842-239T>C) | |
17 | g.44374709A>T | CA399790860 | ITGA2B | c.2893T>A (p.Ser965Thr) c.2324T>A c.253+1124T>A n.2404T>A c.2842-239T>A (n.2842-239T>A) | |
17 | g.44374710G>A | CA500262633 | ITGA2B | c.2892C>T (p.Ser964=) c.2323C>T c.253+1123C>T n.2403C>T c.2842-240C>T (n.2842-240C>T) | |
17 | g.44374710G>C | CA500262635 | ITGA2B | c.2892C>G (p.Ser964=) c.2323C>G c.253+1123C>G n.2403C>G c.2842-240C>G (n.2842-240C>G) | |
17 | g.44374710G>T | CA500262636 | ITGA2B | c.2892C>A (p.Ser964=) c.2323C>A c.253+1123C>A n.2403C>A c.2842-240C>A (n.2842-240C>A) | |
17 | g.44374711G>A | CA399790867 | ITGA2B | c.2891C>T (p.Ser964Phe) c.2322C>T c.253+1122C>T n.2402C>T c.2842-241C>T (n.2842-241C>T) | dbSNP |
17 | g.44374711G>C | CA399790868 | ITGA2B | c.2891C>G (p.Ser964Cys) c.2322C>G c.253+1122C>G n.2402C>G c.2842-241C>G (n.2842-241C>G) | |
17 | g.44374711G>T | CA399790869 | ITGA2B | c.2891C>A (p.Ser964Tyr) c.2322C>A c.253+1122C>A n.2402C>A c.2842-241C>A (n.2842-241C>A) | |
17 | g.44374712A= | CA2261365376 | ITGA2B | c.2890T= (p.Ser964=) c.2321T= c.253+1121T= n.2401T= c.2842-242T= (n.2842-242T=) | |
17 | g.44374712A>C | CA399790872 | ITGA2B | c.2890T>G (p.Ser964Ala) c.2321T>G c.253+1121T>G n.2401T>G c.2842-242T>G (n.2842-242T>G) | |
17 | g.44374712A>G | CA399790876 | ITGA2B | c.2890T>C (p.Ser964Pro) c.2321T>C c.253+1121T>C n.2401T>C c.2842-242T>C (n.2842-242T>C) | |
17 | g.44374712A>T | CA8602541 | ITGA2B | c.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 |
17 | g.44374713C>A | CA500262646 | ITGA2B | c.2889G>T (p.Val963=) c.2320G>T c.253+1120G>T n.2400G>T c.2842-243G>T (n.2842-243G>T) | |
17 | g.44374713C>G | CA500262644 | ITGA2B | c.2889G>C (p.Val963=) c.2320G>C c.253+1120G>C n.2400G>C c.2842-243G>C (n.2842-243G>C) | |
17 | g.44374713C>T | CA500262642 | ITGA2B | c.2889G>A (p.Val963=) c.2320G>A c.253+1120G>A n.2400G>A c.2842-243G>A (n.2842-243G>A) | |
17 | g.44374714A>C | CA399790886 | ITGA2B | c.2888T>G (p.Val963Gly) c.2319T>G c.253+1119T>G n.2399T>G c.2842-244T>G (n.2842-244T>G) | |
17 | g.44374714A>G | CA399790890 | ITGA2B | c.2888T>C (p.Val963Ala) c.2319T>C c.253+1119T>C n.2399T>C c.2842-244T>C (n.2842-244T>C) | |
17 | g.44374714A>T | CA399790907 | ITGA2B | c.2888T>A (p.Val963Glu) c.2319T>A c.253+1119T>A n.2399T>A c.2842-244T>A (n.2842-244T>A) | |
17 | g.44374715C>A | CA399790925 | ITGA2B | c.2887G>T (p.Val963Leu) c.2318G>T c.253+1118G>T n.2398G>T c.2842-245G>T (n.2842-245G>T) | |
17 | g.44374715C= | CA2261365377 | ITGA2B | c.2887G= (p.Val963=) c.2318G= c.253+1118G= n.2398G= c.2842-245G= (n.2842-245G=) | |
17 | g.44374715C>G | CA399790917 | ITGA2B | c.2887G>C (p.Val963Leu) c.2318G>C c.253+1118G>C n.2398G>C c.2842-245G>C (n.2842-245G>C) | gnomAD v4 |
17 | g.44374715C>T | CA399790920 | ITGA2B | c.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 |
17 | g.44374716G>A | CA500262653 | ITGA2B | c.2886C>T (p.Asn962=) c.2317C>T c.253+1117C>T n.2397C>T c.2842-246C>T (n.2842-246C>T) | gnomAD v4 |
17 | g.44374716G>C | CA399790929 | ITGA2B | c.2886C>G (p.Asn962Lys) c.2317C>G c.253+1117C>G n.2397C>G c.2842-246C>G (n.2842-246C>G) | |
17 | g.44374716G>T | CA399790930 | ITGA2B | c.2886C>A (p.Asn962Lys) c.2317C>A c.253+1117C>A n.2397C>A c.2842-246C>A (n.2842-246C>A) | |
17 | g.44374717T>A | CA399790933 | ITGA2B | c.2885A>T (p.Asn962Ile) c.2316A>T c.253+1116A>T n.2396A>T c.2842-247A>T (n.2842-247A>T) | |
17 | g.44374717T>C | CA399790936 | ITGA2B | c.2885A>G (p.Asn962Ser) c.2316A>G c.253+1116A>G n.2396A>G c.2842-247A>G (n.2842-247A>G) | |
17 | g.44374717T>G | CA399790941 | ITGA2B | c.2885A>C (p.Asn962Thr) c.2316A>C c.253+1116A>C n.2396A>C c.2842-247A>C (n.2842-247A>C) | |
17 | g.44374718T>A | CA399790945 | ITGA2B | c.2884A>T (p.Asn962Tyr) c.2315A>T c.253+1115A>T n.2395A>T c.2842-248A>T (n.2842-248A>T) | |
17 | g.44374718T>C | CA399790946 | ITGA2B | c.2884A>G (p.Asn962Asp) c.2315A>G c.253+1115A>G n.2395A>G c.2842-248A>G (n.2842-248A>G) | |
17 | g.44374718T>G | CA399790947 | ITGA2B | c.2884A>C (p.Asn962His) c.2315A>C c.253+1115A>C n.2395A>C c.2842-248A>C (n.2842-248A>C) | |
17 | g.44374718_44374719delinsTG | CA2261365378 | ITGA2B | c.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) | |
17 | g.44374719del | CA915940799 | ITGA2B | c.2883del (p.Phe961LeufsTer?) c.2314del c.253+1114del n.2394del c.2842-249del (n.2842-249del) | ClinVar dbSNP |
17 | g.44374719G>A | CA500262660 | ITGA2B | c.2883C>T (p.Phe961=) c.2314C>T c.253+1114C>T n.2394C>T c.2842-249C>T (n.2842-249C>T) | gnomAD v4 |
17 | g.44374719G>C | CA399790949 | ITGA2B | c.2883C>G (p.Phe961Leu) c.2314C>G c.253+1114C>G n.2394C>G c.2842-249C>G (n.2842-249C>G) | |
17 | g.44374719G>T | CA399790952 | ITGA2B | c.2883C>A (p.Phe961Leu) c.2314C>A c.253+1114C>A n.2394C>A c.2842-249C>A (n.2842-249C>A) | |
17 | g.44374720A= | CA2261365379 | ITGA2B | c.2882T= (p.Phe961=) c.2313T= c.253+1113T= n.2393T= c.2842-250T= (n.2842-250T=) | |
17 | g.44374720A>C | CA8602542 | ITGA2B | c.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 |
17 | g.44374720A>G | CA399790953 | ITGA2B | c.2882T>C (p.Phe961Ser) c.2313T>C c.253+1113T>C n.2393T>C c.2842-250T>C (n.2842-250T>C) | |
17 | g.44374720A>T | CA399790956 | ITGA2B | c.2882T>A (p.Phe961Tyr) c.2313T>A c.253+1113T>A n.2393T>A c.2842-250T>A (n.2842-250T>A) | |
17 | g.44374721A>C | CA399790962 | ITGA2B | c.2881T>G (p.Phe961Val) c.2312T>G c.253+1112T>G n.2392T>G c.2842-251T>G (n.2842-251T>G) | |
17 | g.44374721A>G | CA399790960 | ITGA2B | c.2881T>C (p.Phe961Leu) c.2312T>C c.253+1112T>C n.2392T>C c.2842-251T>C (n.2842-251T>C) | |
17 | g.44374721A>T | CA399790961 | ITGA2B | c.2881T>A (p.Phe961Ile) c.2312T>A c.253+1112T>A n.2392T>A c.2842-251T>A (n.2842-251T>A) | |
17 | g.44374722C>A | CA399790965 | ITGA2B | c.2880G>T (p.Trp960Cys) c.2311G>T c.253+1111G>T n.2391G>T c.2842-252G>T (n.2842-252G>T) | |
17 | g.44374722C= | CA2261365380 | ITGA2B | c.2880G= (p.Trp960=) c.2311G= c.253+1111G= n.2391G= c.2842-252G= (n.2842-252G=) | |
17 | g.44374722C>G | CA399790966 | ITGA2B | c.2880G>C (p.Trp960Cys) c.2311G>C c.253+1111G>C n.2391G>C c.2842-252G>C (n.2842-252G>C) | |
17 | g.44374722C>T | CA399790971 | ITGA2B | c.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 |
17 | g.44374723C>A | CA399790978 | ITGA2B | c.2879G>T (p.Trp960Leu) c.2310G>T c.253+1110G>T n.2390G>T c.2842-253G>T (n.2842-253G>T) | |
17 | g.44374723C>G | CA399790982 | ITGA2B | c.2879G>C (p.Trp960Ser) c.2310G>C c.253+1110G>C n.2390G>C c.2842-253G>C (n.2842-253G>C) | |
17 | g.44374723C>T | CA399790985 | ITGA2B | c.2879G>A (p.Trp960Ter) c.2310G>A c.253+1110G>A n.2390G>A c.2842-253G>A (n.2842-253G>A) | |
17 | g.44374724A= | CA2261365381 | ITGA2B | c.2878T= (p.Trp960=) c.2309T= c.253+1109T= n.2389T= c.2842-254T= (n.2842-254T=) | |
17 | g.44374724A>C | CA399790990 | ITGA2B | c.2878T>G (p.Trp960Gly) c.2309T>G c.253+1109T>G n.2389T>G c.2842-254T>G (n.2842-254T>G) | gnomAD v4 |
17 | g.44374724A>G | CA399790993 | ITGA2B | c.2878T>C (p.Trp960Arg) c.2309T>C c.253+1109T>C n.2389T>C c.2842-254T>C (n.2842-254T>C) | |
17 | g.44374724A>T | CA399790998 | ITGA2B | c.2878T>A (p.Trp960Arg) c.2309T>A c.253+1109T>A n.2389T>A c.2842-254T>A (n.2842-254T>A) | dbSNP |
17 | g.44374725T>A | CA500262675 | ITGA2B | c.2877A>T (p.Ala959=) c.2308A>T c.253+1108A>T n.2388A>T c.2842-255A>T (n.2842-255A>T) | dbSNP |
17 | g.44374725T>C | CA500262678 | ITGA2B | c.2877A>G (p.Ala959=) c.2308A>G c.253+1108A>G n.2388A>G c.2842-255A>G (n.2842-255A>G) | gnomAD v4 |
17 | g.44374725T>G | CA500262679 | ITGA2B | c.2877A>C (p.Ala959=) c.2308A>C c.253+1108A>C n.2388A>C c.2842-255A>C (n.2842-255A>C) | |
17 | g.44374725T= | CA2261365382 | ITGA2B | c.2877A= (p.Ala959=) c.2308A= c.253+1108A= n.2388A= c.2842-255A= (n.2842-255A=) | |
17 | g.44374729_44374732del | CA2576290898 | ITGA2B | c.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 |
17 | g.44374726G>A | CA399791006 | ITGA2B | c.2876C>T (p.Ala959Val) c.2307C>T c.253+1107C>T n.2387C>T c.2842-256C>T (n.2842-256C>T) | |
17 | g.44374726G>C | CA399791013 | ITGA2B | c.2876C>G (p.Ala959Gly) c.2307C>G c.253+1107C>G n.2387C>G c.2842-256C>G (n.2842-256C>G) | |
17 | g.44374726G>T | CA399791020 | ITGA2B | c.2876C>A (p.Ala959Glu) c.2307C>A c.253+1107C>A n.2387C>A c.2842-256C>A (n.2842-256C>A) | |
17 | g.44374727C>A | CA8602543 | ITGA2B | c.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 |
17 | g.44374727C= | CA2261365383 | ITGA2B | c.2875G= (p.Ala959=) c.2306G= c.253+1106G= n.2386G= c.2842-257G= (n.2842-257G=) | |
17 | g.44374727C>G | CA399791040 | ITGA2B | c.2875G>C (p.Ala959Pro) c.2306G>C c.253+1106G>C n.2386G>C c.2842-257G>C (n.2842-257G>C) | |
17 | g.44374727C>T | CA399791037 | ITGA2B | c.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 |
17 | g.44374728G>A | CA500262687 | ITGA2B | c.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 |
17 | g.44374728G>C | CA8602544 | ITGA2B | c.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 |
17 | g.44374728G= | CA2261365384 | ITGA2B | c.2874C= (p.His958=) c.2305C= c.253+1105C= n.2385C= c.2842-258C= (n.2842-258C=) | |
17 | g.44374728G>T | CA399791047 | ITGA2B | c.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 |
17 | g.44374729T>A | CA8602545 | ITGA2B | c.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 |
17 | g.44374729T>C | CA399791058 | ITGA2B | c.2873A>G (p.His958Arg) c.2304A>G c.253+1104A>G n.2384A>G c.2842-259A>G (n.2842-259A>G) | |
17 | g.44374729T>G | CA399791064 | ITGA2B | c.2873A>C (p.His958Pro) c.2304A>C c.253+1104A>C n.2384A>C c.2842-259A>C (n.2842-259A>C) | |
17 | g.44374729T= | CA2261365385 | ITGA2B | c.2873A= (p.His958=) c.2304A= c.253+1104A= n.2384A= c.2842-259A= (n.2842-259A=) | |
17 | g.44374730G>A | CA399791068 | ITGA2B | c.2872C>T (p.His958Tyr) c.2303C>T c.253+1103C>T n.2383C>T c.2842-260C>T (n.2842-260C>T) | |
17 | g.44374730G>C | CA399791072 | ITGA2B | c.2872C>G (p.His958Asp) c.2303C>G c.253+1103C>G n.2383C>G c.2842-260C>G (n.2842-260C>G) | |
17 | g.44374730G>T | CA399791078 | ITGA2B | c.2872C>A (p.His958Asn) c.2303C>A c.253+1103C>A n.2383C>A c.2842-260C>A (n.2842-260C>A) | gnomAD v4 |
17 | g.44374731C>A | CA500262696 | ITGA2B | c.2871G>T (p.Ser957=) c.2302G>T c.253+1102G>T n.2382G>T c.2842-261G>T (n.2842-261G>T) | |
17 | g.44374731C= | CA2261365386 | ITGA2B | c.2871G= (p.Ser957=) c.2302G= c.253+1102G= n.2382G= c.2842-261G= (n.2842-261G=) | |
17 | g.44374731C>G | CA8602547 | ITGA2B | c.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 |
17 | g.44374731C>T | CA8602546 | ITGA2B | c.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 |
17 | g.44374732G>A | CA115850 | ITGA2B | c.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 |
17 | g.44374732G>C | CA399791096 | ITGA2B | c.2870C>G (p.Ser957Trp) c.2301C>G c.253+1101C>G n.2381C>G c.2842-262C>G (n.2842-262C>G) | |
17 | g.44374732G= | CA2261365387 | ITGA2B | c.2870C= (p.Ser957=) c.2301C= c.253+1101C= n.2381C= c.2842-262C= (n.2842-262C=) | |
17 | g.44374732G>T | CA399791098 | ITGA2B | c.2870C>A (p.Ser957Ter) c.2301C>A c.253+1101C>A n.2381C>A c.2842-262C>A (n.2842-262C>A) | |
17 | g.44374733A>C | CA399791103 | ITGA2B | c.2869T>G (p.Ser957Ala) c.2300T>G c.253+1100T>G n.2380T>G c.2842-263T>G (n.2842-263T>G) | |
17 | g.44374733A>G | CA399791106 | ITGA2B | c.2869T>C (p.Ser957Pro) c.2300T>C c.253+1100T>C n.2380T>C c.2842-263T>C (n.2842-263T>C) | |
17 | g.44374733A>T | CA399791120 | ITGA2B | c.2869T>A (p.Ser957Thr) c.2300T>A c.253+1100T>A n.2380T>A c.2842-263T>A (n.2842-263T>A) | |
17 | g.44374734C>A | CA399791133 | ITGA2B | c.2868G>T (p.Gln956His) c.2299G>T c.253+1099G>T n.2379G>T c.2842-264G>T (n.2842-264G>T) | |
17 | g.44374734C= | CA2261365388 | ITGA2B | c.2868G= (p.Gln956=) c.2299G= c.253+1099G= n.2379G= c.2842-264G= (n.2842-264G=) | |
17 | g.44374734C>G | CA399791132 | ITGA2B | c.2868G>C (p.Gln956His) c.2299G>C c.253+1099G>C n.2379G>C c.2842-264G>C (n.2842-264G>C) | dbSNP |
17 | g.44374734C>T | CA500262719 | ITGA2B | c.2868G>A (p.Gln956=) c.2299G>A c.253+1099G>A n.2379G>A c.2842-264G>A (n.2842-264G>A) | |
17 | g.44374735T>A | CA399791136 | ITGA2B | c.2867A>T (p.Gln956Leu) c.2298A>T c.253+1098A>T n.2378A>T c.2841+263A>T (n.2841+263A>T) | |
17 | g.44374735T>C | CA399791140 | ITGA2B | c.2867A>G (p.Gln956Arg) c.2298A>G c.253+1098A>G n.2378A>G c.2841+263A>G (n.2841+263A>G) | |
17 | g.44374735T>G | CA399791148 | ITGA2B | c.2867A>C (p.Gln956Pro) c.2298A>C c.253+1098A>C n.2378A>C c.2841+263A>C (n.2841+263A>C) | gnomAD v4 |
17 | g.44374736G>A | CA399791156 | ITGA2B | c.2866C>T (p.Gln956Ter) c.2297C>T c.253+1097C>T n.2377C>T c.2841+262C>T (n.2841+262C>T) | |
17 | g.44374736G>C | CA399791160 | ITGA2B | c.2866C>G (p.Gln956Glu) c.2297C>G c.253+1097C>G n.2377C>G c.2841+262C>G (n.2841+262C>G) | |
17 | g.44374736G>T | CA399791162 | ITGA2B | c.2866C>A (p.Gln956Lys) c.2297C>A c.253+1097C>A n.2377C>A c.2841+262C>A (n.2841+262C>A) | |
17 | g.44374737C>A | CA500262754 | ITGA2B | c.2865G>T (p.Leu955=) c.2296G>T c.253+1096G>T n.2376G>T c.2841+261G>T (n.2841+261G>T) | |
17 | g.44374737C= | CA2261365389 | ITGA2B | c.2865G= (p.Leu955=) c.2296G= c.253+1096G= n.2376G= c.2841+261G= (n.2841+261G=) | |
17 | g.44374737C>G | CA8602548 | ITGA2B | c.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 |
17 | g.44374737C>T | CA500262760 | ITGA2B | c.2865G>A (p.Leu955=) c.2296G>A c.253+1096G>A n.2376G>A c.2841+261G>A (n.2841+261G>A) | |
17 | g.44374738A= | CA2261365390 | ITGA2B | c.2864T= (p.Leu955=) c.2295T= c.253+1095T= n.2375T= c.2841+260T= (n.2841+260T=) | |
17 | g.44374738A>C | CA399791166 | ITGA2B | c.2864T>G (p.Leu955Arg) c.2295T>G c.253+1095T>G n.2375T>G c.2841+260T>G (n.2841+260T>G) | |
17 | g.44374738A>G | CA399791169 | ITGA2B | c.2864T>C (p.Leu955Pro) c.2295T>C c.253+1095T>C n.2375T>C c.2841+260T>C (n.2841+260T>C) | |
17 | g.44374738A>T | CA399791171 | ITGA2B | c.2864T>A (p.Leu955Gln) c.2295T>A c.253+1095T>A n.2375T>A c.2841+260T>A (n.2841+260T>A) | ClinVar dbSNP |
17 | g.44374739G>A | CA500262769 | ITGA2B | c.2863C>T (p.Leu955=) c.2294C>T c.253+1094C>T n.2374C>T c.2841+259C>T (n.2841+259C>T) | |
17 | g.44374739G>C | CA399791179 | ITGA2B | c.2863C>G (p.Leu955Val) c.2294C>G c.253+1094C>G n.2374C>G c.2841+259C>G (n.2841+259C>G) | |
17 | g.44374739G>T | CA399791183 | ITGA2B | c.2863C>A (p.Leu955Met) c.2294C>A c.253+1094C>A n.2374C>A c.2841+259C>A (n.2841+259C>A) | |
17 | g.44374740C>A | CA500262774 | ITGA2B | c.2862G>T (p.Val954=) c.2293G>T c.253+1093G>T n.2373G>T c.2841+258G>T (n.2841+258G>T) | |
17 | g.44374740C= | CA2261365391 | ITGA2B | c.2862G= (p.Val954=) c.2293G= c.253+1093G= n.2373G= c.2841+258G= (n.2841+258G=) | |
17 | g.44374740C>G | CA500262775 | ITGA2B | c.2862G>C (p.Val954=) c.2293G>C c.253+1093G>C n.2373G>C c.2841+258G>C (n.2841+258G>C) | |
17 | g.44374740C>T | CA8602549 | ITGA2B | c.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 |
17 | g.44374741A>C | CA399791194 | ITGA2B | c.2861T>G (p.Val954Gly) c.2292T>G c.253+1092T>G n.2372T>G c.2841+257T>G (n.2841+257T>G) | |
17 | g.44374741A>G | CA399791197 | ITGA2B | c.2861T>C (p.Val954Ala) c.2292T>C c.253+1092T>C n.2372T>C c.2841+257T>C (n.2841+257T>C) | |
17 | g.44374741A>T | CA399791195 | ITGA2B | c.2861T>A (p.Val954Glu) c.2292T>A c.253+1092T>A n.2372T>A c.2841+257T>A (n.2841+257T>A) | |
17 | g.44374742C>A | CA399791205 | ITGA2B | c.2860G>T (p.Val954Leu) c.2291G>T c.253+1091G>T n.2371G>T c.2841+256G>T (n.2841+256G>T) | |
17 | g.44374742C>G | CA399791210 | ITGA2B | c.2860G>C (p.Val954Leu) c.2291G>C c.253+1091G>C n.2371G>C c.2841+256G>C (n.2841+256G>C) | |
17 | g.44374742C>T | CA399791213 | ITGA2B | c.2860G>A (p.Val954Met) c.2291G>A c.253+1091G>A n.2371G>A c.2841+256G>A (n.2841+256G>A) | gnomAD v4 |
17 | g.44374743A>C | CA399791215 | ITGA2B | c.2859T>G (p.Phe953Leu) c.2290T>G c.253+1090T>G n.2370T>G c.2841+255T>G (n.2841+255T>G) | |
17 | g.44374743A>G | CA500262786 | ITGA2B | c.2859T>C (p.Phe953=) c.2290T>C c.253+1090T>C n.2370T>C c.2841+255T>C (n.2841+255T>C) | |
17 | g.44374743A>T | CA399791217 | ITGA2B | c.2859T>A (p.Phe953Leu) c.2290T>A c.253+1090T>A n.2370T>A c.2841+255T>A (n.2841+255T>A) | |
17 | g.44374744A>C | CA399791222 | ITGA2B | c.2858T>G (p.Phe953Cys) c.2289T>G c.253+1089T>G n.2369T>G c.2841+254T>G (n.2841+254T>G) | |
17 | g.44374744A>G | CA399791224 | ITGA2B | c.2858T>C (p.Phe953Ser) c.2289T>C c.253+1089T>C n.2369T>C c.2841+254T>C (n.2841+254T>C) | |
17 | g.44374744A>T | CA399791227 | ITGA2B | c.2858T>A (p.Phe953Tyr) c.2289T>A c.253+1089T>A n.2369T>A c.2841+254T>A (n.2841+254T>A) | |
17 | g.44374745A>C | CA399791231 | ITGA2B | c.2857T>G (p.Phe953Val) c.2288T>G c.253+1088T>G n.2368T>G c.2841+253T>G (n.2841+253T>G) | |
17 | g.44374745A>G | CA399791236 | ITGA2B | c.2857T>C (p.Phe953Leu) c.2288T>C c.253+1088T>C n.2368T>C c.2841+253T>C (n.2841+253T>C) | |
17 | g.44374745A>T | CA399791237 | ITGA2B | c.2857T>A (p.Phe953Ile) c.2288T>A c.253+1088T>A n.2368T>A c.2841+253T>A (n.2841+253T>A) | |
17 | g.44374746C>A | CA399791240 | ITGA2B | c.2856G>T (p.Gln952His) c.2287G>T c.253+1087G>T n.2367G>T c.2841+252G>T (n.2841+252G>T) | |
17 | g.44374746C>G | CA399791241 | ITGA2B | c.2856G>C (p.Gln952His) c.2287G>C c.253+1087G>C n.2367G>C c.2841+252G>C (n.2841+252G>C) | gnomAD v4 |
17 | g.44374746C>T | CA500262801 | ITGA2B | c.2856G>A (p.Gln952=) c.2287G>A c.253+1087G>A n.2367G>A c.2841+252G>A (n.2841+252G>A) | |
17 | g.44374747T>A | CA399791242 | ITGA2B | c.2855A>T (p.Gln952Leu) c.2286A>T c.253+1086A>T n.2366A>T c.2841+251A>T (n.2841+251A>T) | |
17 | g.44374747T>C | CA399791264 | ITGA2B | c.2855A>G (p.Gln952Arg) c.2286A>G c.253+1086A>G n.2366A>G c.2841+251A>G (n.2841+251A>G) | |
17 | g.44374747T>G | CA399791259 | ITGA2B | c.2855A>C (p.Gln952Pro) c.2286A>C c.253+1086A>C n.2366A>C c.2841+251A>C (n.2841+251A>C) | |
17 | g.44374748G>A | CA399791265 | ITGA2B | c.2854C>T (p.Gln952Ter) c.2285C>T c.253+1085C>T n.2365C>T c.2841+250C>T (n.2841+250C>T) | |
17 | g.44374748G>C | CA399791266 | ITGA2B | c.2854C>G (p.Gln952Glu) c.2285C>G c.253+1085C>G n.2365C>G c.2841+250C>G (n.2841+250C>G) | |
17 | g.44374748G>T | CA399791268 | ITGA2B | c.2854C>A (p.Gln952Lys) c.2285C>A c.253+1085C>A n.2365C>A c.2841+250C>A (n.2841+250C>A) | |
17 | g.44374748_44374750delinsGAT | CA2261365392 | ITGA2B | c.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) | |
17 | g.44374749del | CA2576290899 | ITGA2B | c.2853del (p.Gln952SerfsTer?) c.2284del c.253+1084del n.2364del c.2841+249del (n.2841+249del) | |
17 | g.44374749A>C | CA399791277 | ITGA2B | c.2853T>G (p.Asp951Glu) c.2284T>G c.253+1084T>G n.2364T>G c.2841+249T>G (n.2841+249T>G) | |
17 | g.44374749A>G | CA500262815 | ITGA2B | c.2853T>C (p.Asp951=) c.2284T>C c.253+1084T>C n.2364T>C c.2841+249T>C (n.2841+249T>C) | |
17 | g.44374749A>T | CA399791278 | ITGA2B | c.2853T>A (p.Asp951Glu) c.2284T>A c.253+1084T>A n.2364T>A c.2841+249T>A (n.2841+249T>A) | |
17 | g.44374749_44374750del | CA915940798 | ITGA2B | c.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) | |
17 | g.44374749_44374750delinsG | CA913187304 | ITGA2B | c.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 |
17 | g.44374750T>A | CA399791279 | ITGA2B | c.2852A>T (p.Asp951Val) c.2283A>T c.253+1083A>T n.2363A>T c.2841+248A>T (n.2841+248A>T) | |
17 | g.44374750T>C | CA399791281 | ITGA2B | c.2852A>G (p.Asp951Gly) c.2283A>G c.253+1083A>G n.2363A>G c.2841+248A>G (n.2841+248A>G) | |
17 | g.44374750T>G | CA399791288 | ITGA2B | c.2852A>C (p.Asp951Ala) c.2283A>C c.253+1083A>C n.2363A>C c.2841+248A>C (n.2841+248A>C) | |
17 | g.44374751C>A | CA399791289 | ITGA2B | c.2851G>T (p.Asp951Tyr) c.2282G>T c.253+1082G>T n.2362G>T c.2841+247G>T (n.2841+247G>T) | |
17 | g.44374751C>G | CA399791291 | ITGA2B | c.2851G>C (p.Asp951His) c.2282G>C c.253+1082G>C n.2362G>C c.2841+247G>C (n.2841+247G>C) | |
17 | g.44374751C>T | CA399791294 | ITGA2B | c.2851G>A (p.Asp951Asn) c.2282G>A c.253+1082G>A n.2362G>A c.2841+247G>A (n.2841+247G>A) | |
17 | g.44374752C>A | CA500262837 | ITGA2B | c.2850G>T (p.Leu950=) c.2281G>T c.253+1081G>T n.2361G>T c.2841+246G>T (n.2841+246G>T) | |
17 | g.44374752C= | CA2261365393 | ITGA2B | c.2850G= (p.Leu950=) c.2281G= c.253+1081G= n.2361G= c.2841+246G= (n.2841+246G=) | |
17 | g.44374752C>G | CA500262840 | ITGA2B | c.2850G>C (p.Leu950=) c.2281G>C c.253+1081G>C n.2361G>C c.2841+246G>C (n.2841+246G>C) | |
17 | g.44374752C>T | CA8602550 | ITGA2B | c.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 |
17 | g.44374753A>C | CA399791299 | ITGA2B | c.2849T>G (p.Leu950Arg) c.2280T>G c.253+1080T>G n.2360T>G c.2841+245T>G (n.2841+245T>G) | |
17 | g.44374753A>G | CA399791297 | ITGA2B | c.2849T>C (p.Leu950Pro) c.2280T>C c.253+1080T>C n.2360T>C c.2841+245T>C (n.2841+245T>C) | |
17 | g.44374753A>T | CA399791302 | ITGA2B | c.2849T>A (p.Leu950Gln) c.2280T>A c.253+1080T>A n.2360T>A c.2841+245T>A (n.2841+245T>A) | |
17 | g.44374754G>A | CA500262854 | ITGA2B | c.2848C>T (p.Leu950=) c.2279C>T c.253+1079C>T n.2359C>T c.2841+244C>T (n.2841+244C>T) | |
17 | g.44374754G>C | CA399791305 | ITGA2B | c.2848C>G (p.Leu950Val) c.2279C>G c.253+1079C>G n.2359C>G c.2841+244C>G (n.2841+244C>G) | |
17 | g.44374754G>T | CA399791306 | ITGA2B | c.2848C>A (p.Leu950Met) c.2279C>A c.253+1079C>A n.2359C>A c.2841+244C>A (n.2841+244C>A) | |
17 | g.44374755A>C | CA500262861 | ITGA2B | c.2847T>G (p.Pro949=) c.2278T>G c.253+1078T>G n.2358T>G c.2841+243T>G (n.2841+243T>G) | |
17 | g.44374755A>G | CA500262862 | ITGA2B | c.2847T>C (p.Pro949=) c.2278T>C c.253+1078T>C n.2358T>C c.2841+243T>C (n.2841+243T>C) | |
17 | g.44374755A>T | CA500262867 | ITGA2B | c.2847T>A (p.Pro949=) c.2278T>A c.253+1078T>A n.2358T>A c.2841+243T>A (n.2841+243T>A) | |
17 | g.44374756G>A | CA399791307 | ITGA2B | c.2846C>T (p.Pro949Leu) c.2277C>T c.253+1077C>T n.2357C>T c.2841+242C>T (n.2841+242C>T) | dbSNP |
17 | g.44374756G>C | CA399791310 | ITGA2B | c.2846C>G (p.Pro949Arg) c.2277C>G c.253+1077C>G n.2357C>G c.2841+242C>G (n.2841+242C>G) | |
17 | g.44374756G= | CA2261365394 | ITGA2B | c.2846C= (p.Pro949=) c.2277C= c.253+1077C= n.2357C= c.2841+242C= (n.2841+242C=) | |
17 | g.44374756G>T | CA399791324 | ITGA2B | c.2846C>A (p.Pro949His) c.2277C>A c.253+1077C>A n.2357C>A c.2841+242C>A (n.2841+242C>A) | |
17 | g.44374757G>A | CA290946281 | ITGA2B | c.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 |
17 | g.44374757G>C | CA399791327 | ITGA2B | c.2845C>G (p.Pro949Ala) c.2276C>G c.253+1076C>G n.2356C>G c.2841+241C>G (n.2841+241C>G) | |
17 | g.44374757G= | CA2261365395 | ITGA2B | c.2845C= (p.Pro949=) c.2276C= c.253+1076C= n.2356C= c.2841+241C= (n.2841+241C=) | |
17 | g.44374757G>T | CA399791328 | ITGA2B | c.2845C>A (p.Pro949Thr) c.2276C>A c.253+1076C>A n.2356C>A c.2841+241C>A (n.2841+241C>A) | |
17 | g.44374758C>A | CA399791331 | ITGA2B | c.2844G>T (p.Arg948Ser) c.2275G>T c.253+1075G>T n.2355G>T c.2841+240G>T (n.2841+240G>T) | gnomAD v4 |
17 | g.44374758C>G | CA399791338 | ITGA2B | c.2844G>C (p.Arg948Ser) c.2275G>C c.253+1075G>C n.2355G>C c.2841+240G>C (n.2841+240G>C) | |
17 | g.44374758C>T | CA500262874 | ITGA2B | c.2844G>A (p.Arg948=) c.2275G>A c.253+1075G>A n.2355G>A c.2841+240G>A (n.2841+240G>A) | gnomAD v4 |
17 | g.44374759C>A | CA399791344 | ITGA2B | c.2843G>T (p.Arg948Met) c.2274G>T c.253+1074G>T n.2354G>T c.2841+239G>T (n.2841+239G>T) | |
17 | g.44374759C>G | CA399791346 | ITGA2B | c.2843G>C (p.Arg948Thr) c.2274G>C c.253+1074G>C n.2354G>C c.2841+239G>C (n.2841+239G>C) | |
17 | g.44374759C>T | CA399791348 | ITGA2B | c.2843G>A (p.Arg948Lys) c.2274G>A c.253+1074G>A n.2354G>A c.2841+239G>A (n.2841+239G>A) | gnomAD v4 |
17 | g.44374760del | CA915940797 | ITGA2B | c.2842del (p.Arg948GlyfsTer?) c.2273del c.253+1073del n.2353del c.2841+238del (n.2841+238del) | |
17 | g.44374760T>A | CA399791355 | ITGA2B | c.2842A>T (p.Arg948Trp) c.2273A>T c.253+1073A>T n.2353A>T c.2841+238A>T (n.2841+238A>T) | |
17 | g.44374760T>C | CA399791350 | ITGA2B | c.2842A>G (p.Arg948Gly) c.2273A>G c.253+1073A>G n.2353A>G c.2841+238A>G (n.2841+238A>G) | gnomAD v4 |
17 | g.44374760T>G | CA500262885 | ITGA2B | c.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 |
17 | g.44374760T= | CA2261365396 | ITGA2B | c.2842A= (p.Arg948=) c.2273A= c.253+1073A= n.2353A= c.2841+238A= (n.2841+238A=) | |
17 | g.44374761C>A | CA399791365 | ITGA2B | c.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) | |
17 | g.44374761C>G | CA399791378 | ITGA2B | c.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 |
17 | g.44374761C>T | CA399791385 | ITGA2B | c.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) | |
17 | g.44374762T>A | CA399791392 | ITGA2B | c.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) | |
17 | g.44374762T>C | CA399791399 | ITGA2B | c.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) | |
17 | g.44374762T>G | CA399791402 | ITGA2B | c.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) | |
17 | g.44374764G>C | CA2576290900 | ITGA2B | c.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) | |
17 | g.44374765_44374766insT | CA2576290901 | ITGA2B | c.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 |
17 | g.44374767_44374773delinsAGGTTGG | CA2261365397 | ITGA2B | c.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) | |
17 | g.44374773_44374778del | CA290946287 | ITGA2B | c.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 |
17 | g.44374769G>A | CA2638214857 | ITGA2B | c.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 |
17 | g.44374769G>T | CA2638214858 | ITGA2B | c.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 |
17 | g.44374770T>C | CA772285430 | ITGA2B | c.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 |
17 | g.44374770T= | CA2261365398 | ITGA2B | c.2842-10A= (n.2842-10A=) c.2273-10A= c.253+1063A= n.2343A= c.2841+228A= (n.2841+228A=) | |
17 | g.44374771_44374772delinsTG | CA2261365399 | ITGA2B | c.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) | |
17 | g.44374772G>A | CA290946297 | ITGA2B | c.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 |
17 | g.44374772G= | CA2261365400 | ITGA2B | c.2842-12C= (n.2842-12C=) c.2273-12C= c.253+1061C= n.2341C= c.2841+226C= (n.2841+226C=) | |
17 | g.44374775del | CA772285431 | ITGA2B | c.2842-12del (n.2842-12del) c.2273-12del c.253+1061del n.2341del c.2841+226del (n.2841+226del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374773G>A | CA8602551 | ITGA2B | c.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 |
17 | g.44374773G= | CA2261365401 | ITGA2B | c.2842-13C= (n.2842-13C=) c.2273-13C= c.253+1060C= n.2340C= c.2841+225C= (n.2841+225C=) | |
17 | g.44374774G>A | CA2638214859 | ITGA2B | c.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 |
17 | g.44374775G>A | CA2809589770 | ITGA2B | c.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) | |
17 | g.44374775G= | CA2261365402 | ITGA2B | c.2842-15C= (n.2842-15C=) c.2273-15C= c.253+1058C= n.2338C= c.2841+223C= (n.2841+223C=) | |
17 | g.44374775G>T | CA2261365403 | ITGA2B | c.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 |
17 | g.44374776T>A | CA2638214860 | ITGA2B | c.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 |
17 | g.44374777T>G | CA2638214861 | ITGA2B | c.2842-17A>C (n.2842-17A>C) c.2273-17A>C c.253+1056A>C n.2336A>C c.2841+221A>C (n.2841+221A>C) | gnomAD v4 |
17 | g.44374778G>A | CA2638214862 | ITGA2B | c.2842-18C>T (n.2842-18C>T) c.2273-18C>T c.253+1055C>T n.2335C>T c.2841+220C>T (n.2841+220C>T) | gnomAD v4 |
17 | g.44374778G>T | CA2512312673 | ITGA2B | c.2842-18C>A (n.2842-18C>A) c.2273-18C>A c.253+1055C>A n.2335C>A c.2841+220C>A (n.2841+220C>A) | gnomAD v4 |
17 | g.44374781A= | CA2261365404 | ITGA2B | c.2842-21T= (n.2842-21T=) c.2273-21T= c.253+1052T= n.2332T= c.2841+217T= (n.2841+217T=) | |
17 | g.44374781A>C | CA626224469 | ITGA2B | c.2842-21T>G (n.2842-21T>G) c.2273-21T>G c.253+1052T>G n.2332T>G c.2841+217T>G (n.2841+217T>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44374781A>T | CA8602552 | ITGA2B | c.2842-21T>A (n.2842-21T>A) c.2273-21T>A c.253+1052T>A n.2332T>A c.2841+217T>A (n.2841+217T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44374782G>A | CA2638214864 | ITGA2B | c.2842-22C>T (n.2842-22C>T) c.2273-22C>T c.253+1051C>T n.2331C>T c.2841+216C>T (n.2841+216C>T) | gnomAD v4 |
17 | g.44374782_44374783del | CA2638214863 | ITGA2B | c.2842-23_2842-22del (n.2842-23_2842-22del) c.2273-23_2273-22del c.253+1050_253+1051del n.2330_2331del c.2841+215_2841+216del (n.2841+215_2841+216del) | gnomAD v4 |
17 | g.44374783C= | CA2261365405 | ITGA2B | c.2842-23G= (n.2842-23G=) c.2273-23G= c.253+1050G= n.2330G= c.2841+215G= (n.2841+215G=) | |
17 | g.44374783C>T | CA626224470 | ITGA2B | c.2842-23G>A (n.2842-23G>A) c.2273-23G>A c.253+1050G>A n.2330G>A c.2841+215G>A (n.2841+215G>A) | dbSNP gnomAD v2 gnomAD v4 |