Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44374936_44374980del | CA2638214982 | ITGA2B | c.2841+27_2841+71del (n.2841+27_2841+71del) c.2272+27_2272+71del c.253+862_253+906del n.2142_2186del | gnomAD v4 |
17 | g.44374952_44374971delinsTCCCCGCCCAGAAGGCCCGG | CA2261365494 | ITGA2B | c.2841+27_2841+46delinsCCGGGCCTTCTGGGCGGGGA (n.2841+27_2841+46delinsCCGGGCCTTCTGGGCGGGGA) c.2272+27_2272+46delinsCCGGGCCTTCTGGGCGGGGA c.253+862_253+881delinsCCGGGCCTTCTGGGCGGGGA n.2142_2161delinsCCGGGCCTTCTGGGCGGGGA | |
17 | g.44374961_44374979del | CA8602567 | ITGA2B | c.2841+27_2841+45del (n.2841+27_2841+45del) c.2272+27_2272+45del c.253+862_253+880del n.2142_2160del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374961_44374974del | CA2576290934 | ITGA2B | c.2841+28_2841+41del (n.2841+28_2841+41del) c.2272+28_2272+41del c.253+863_253+876del n.2143_2156del | |
17 | g.44374961_44374978del | CA2638215018 | ITGA2B | c.2841+22_2841+39del (n.2841+22_2841+39del) c.2272+22_2272+39del c.253+857_253+874del n.2137_2154del | gnomAD v4 |
17 | g.44374961_44374967del | CA2638215021 | ITGA2B | c.2841+32_2841+38del (n.2841+32_2841+38del) c.2272+32_2272+38del c.253+867_253+873del n.2147_2153del | gnomAD v4 |
17 | g.44374963_44374965del | CA2809589790 | ITGA2B | c.2841+35_2841+37del (n.2841+35_2841+37del) c.2272+35_2272+37del c.253+870_253+872del n.2150_2152del | |
17 | g.44374961_44374966del | CA2638215025 | ITGA2B | c.2841+32_2841+37del (n.2841+32_2841+37del) c.2272+32_2272+37del c.253+867_253+872del n.2147_2152del | gnomAD v4 |
17 | g.44374963_44374964del | CA2638215029 | ITGA2B | c.2841+34_2841+35del (n.2841+34_2841+35del) c.2272+34_2272+35del c.253+869_253+870del n.2149_2150del | gnomAD v4 |
17 | g.44374963_44374967del | CA2638215030 | ITGA2B | c.2841+31_2841+35del (n.2841+31_2841+35del) c.2272+31_2272+35del c.253+866_253+870del n.2146_2150del | gnomAD v4 |
17 | g.44374964A>G | CA2638215034 | ITGA2B | c.2841+34T>C (n.2841+34T>C) c.2272+34T>C c.253+869T>C n.2149T>C | gnomAD v4 |
17 | g.44374964_44374965insT | CA2638215035 | ITGA2B | c.2841+33_2841+34insA (n.2841+33_2841+34insA) c.2272+33_2272+34insA c.253+868_253+869insA n.2148_2149insA | gnomAD v4 |
17 | g.44374965G>A | CA2638215037 | ITGA2B | c.2841+33C>T (n.2841+33C>T) c.2272+33C>T c.253+868C>T n.2148C>T | gnomAD v4 |
17 | g.44374965G>C | CA2638215036 | ITGA2B | c.2841+33C>G (n.2841+33C>G) c.2272+33C>G c.253+868C>G n.2148C>G | gnomAD v4 |
17 | g.44374965G>T | CA2576290936 | ITGA2B | c.2841+33C>A (n.2841+33C>A) c.2272+33C>A c.253+868C>A n.2148C>A | gnomAD v4 |
17 | g.44374965_44374966del | CA2638215039 | ITGA2B | c.2841+32_2841+33del (n.2841+32_2841+33del) c.2272+32_2272+33del c.253+867_253+868del n.2147_2148del | gnomAD v4 |
17 | g.44374966_44374971del | CA2638215040 | ITGA2B | c.2841+28_2841+33del (n.2841+28_2841+33del) c.2272+28_2272+33del c.253+863_253+868del n.2143_2148del | gnomAD v4 |
17 | g.44374970_44374974del | CA2638215038 | ITGA2B | c.2841+29_2841+33del (n.2841+29_2841+33del) c.2272+29_2272+33del c.253+864_253+868del n.2144_2148del | gnomAD v4 |
17 | g.44374970_44374990del | CA2740093760 | ITGA2B | c.2841+13_2841+33del (n.2841+13_2841+33del) c.2272+13_2272+33del c.253+848_253+868del n.2128_2148del | ClinVar |
17 | g.44374966G>A | CA2638215041 | ITGA2B | c.2841+32C>T (n.2841+32C>T) c.2272+32C>T c.253+867C>T n.2147C>T | gnomAD v4 |
17 | g.44374966G>C | CA2638215042 | ITGA2B | c.2841+32C>G (n.2841+32C>G) c.2272+32C>G c.253+867C>G n.2147C>G | gnomAD v4 |
17 | g.44374966G>T | CA2576290937 | ITGA2B | c.2841+32C>A (n.2841+32C>A) c.2272+32C>A c.253+867C>A n.2147C>A | gnomAD v4 |
17 | g.44374966_44374967delinsGC | CA2261365505 | ITGA2B | c.2841+31_2841+32delinsGC (n.2841+31_2841+32delinsGC) c.2272+31_2272+32delinsGC c.253+866_253+867delinsGC n.2146_2147delinsGC | |
17 | g.44374966_44374982delinsGCCCGGCCCCGCCCCAC | CA2261365506 | ITGA2B | c.2841+16_2841+32delinsGTGGGGCGGGGCCGGGC (n.2841+16_2841+32delinsGTGGGGCGGGGCCGGGC) c.2272+16_2272+32delinsGTGGGGCGGGGCCGGGC c.253+851_253+867delinsGTGGGGCGGGGCCGGGC n.2131_2147delinsGTGGGGCGGGGCCGGGC | |
17 | g.44374967C>G | CA2638215043 | ITGA2B | c.2841+31G>C (n.2841+31G>C) c.2272+31G>C c.253+866G>C n.2146G>C | gnomAD v4 |
17 | g.44374967C>T | CA2840396053 | ITGA2B | c.2841+31G>A (n.2841+31G>A) c.2272+31G>A c.253+866G>A n.2146G>A | |
17 | g.44374969dup | CA2576290938 | ITGA2B | c.2841+31dup (n.2841+31dup) c.2272+31dup c.253+866dup n.2146dup | gnomAD v4 |
17 | g.44374969del | CA772285551 | ITGA2B | c.2841+31del (n.2841+31del) c.2272+31del c.253+866del n.2146del | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374968_44374983del | CA2261365507 | ITGA2B | c.2841+16_2841+31del (n.2841+16_2841+31del) c.2272+16_2272+31del c.253+851_253+866del n.2131_2146del | dbSNP |
17 | g.44374968C= | CA2261365508 | ITGA2B | c.2841+30G= (n.2841+30G=) c.2272+30G= c.253+865G= n.2145G= | |
17 | g.44374968C>T | CA626119822 | ITGA2B | c.2841+30G>A (n.2841+30G>A) c.2272+30G>A c.253+865G>A n.2145G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44374968_44374970del | CA2638215044 | ITGA2B | c.2841+28_2841+30del (n.2841+28_2841+30del) c.2272+28_2272+30del c.253+863_253+865del n.2143_2145del | gnomAD v4 |
17 | g.44374969C>A | CA2638215045 | ITGA2B | c.2841+29G>T (n.2841+29G>T) c.2272+29G>T c.253+864G>T n.2144G>T | gnomAD v4 |
17 | g.44374969C= | CA2261365509 | ITGA2B | c.2841+29G= (n.2841+29G=) c.2272+29G= c.253+864G= n.2144G= | |
17 | g.44374969C>T | CA626119823 | ITGA2B | c.2841+29G>A (n.2841+29G>A) c.2272+29G>A c.253+864G>A n.2144G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44374969_44374970insA | CA2638215049 | ITGA2B | c.2841+28_2841+29insT (n.2841+28_2841+29insT) c.2272+28_2272+29insT c.253+863_253+864insT n.2143_2144insT | gnomAD v4 |
17 | g.44374969_44374970insAA | CA2261365510 | ITGA2B | c.2841+28_2841+29insTT (n.2841+28_2841+29insTT) c.2272+28_2272+29insTT c.253+863_253+864insTT n.2143_2144insTT | dbSNP gnomAD v4 |
17 | g.44374969_44374970insTA | CA2638215048 | ITGA2B | c.2841+28_2841+29insTA (n.2841+28_2841+29insTA) c.2272+28_2272+29insTA c.253+863_253+864insTA n.2143_2144insTA | gnomAD v4 |
17 | g.44374970G>A | CA8602569 | ITGA2B | c.2841+28C>T (n.2841+28C>T) c.2272+28C>T c.253+863C>T n.2143C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374970G>C | CA772285559 | ITGA2B | c.2841+28C>G (n.2841+28C>G) c.2272+28C>G c.253+863C>G n.2143C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374970G= | CA2261365511 | ITGA2B | c.2841+28C= (n.2841+28C=) c.2272+28C= c.253+863C= n.2143C= | |
17 | g.44374970G>T | CA2638215047 | ITGA2B | c.2841+28C>A (n.2841+28C>A) c.2272+28C>A c.253+863C>A n.2143C>A | gnomAD v4 |
17 | g.44374971dup | CA2638215046 | ITGA2B | c.2841+28dup (n.2841+28dup) c.2272+28dup c.253+863dup n.2143dup | gnomAD v4 |
17 | g.44374971G>A | CA2576290939 | ITGA2B | c.2841+27C>T (n.2841+27C>T) c.2272+27C>T c.253+862C>T n.2142C>T | gnomAD v4 |
17 | g.44374971G>C | CA2638215051 | ITGA2B | c.2841+27C>G (n.2841+27C>G) c.2272+27C>G c.253+862C>G n.2142C>G | gnomAD v4 |
17 | g.44374971G>T | CA2576290940 | ITGA2B | c.2841+27C>A (n.2841+27C>A) c.2272+27C>A c.253+862C>A n.2142C>A | gnomAD v4 |
17 | g.44374976_44374980del | CA2638215050 | ITGA2B | c.2841+23_2841+27del (n.2841+23_2841+27del) c.2272+23_2272+27del c.253+858_253+862del n.2138_2142del | gnomAD v4 |
17 | g.44374971_44374972insGCCCCCCCCCC | CA2638215055 | ITGA2B | c.2841+26_2841+27insGGGGGGGGGGC (n.2841+26_2841+27insGGGGGGGGGGC) c.2272+26_2272+27insGGGGGGGGGGC c.253+861_253+862insGGGGGGGGGGC n.2141_2142insGGGGGGGGGGC | gnomAD v4 |
17 | g.44374972C= | CA2261365512 | ITGA2B | c.2841+26G= (n.2841+26G=) c.2272+26G= c.253+861G= n.2141G= | |
17 | g.44374972C>G | CA2638215053 | ITGA2B | c.2841+26G>C (n.2841+26G>C) c.2272+26G>C c.253+861G>C n.2141G>C | gnomAD v4 |
17 | g.44374972C>T | CA626119829 | ITGA2B | c.2841+26G>A (n.2841+26G>A) c.2272+26G>A c.253+861G>A n.2141G>A | gnomAD v2 gnomAD v4 |
17 | g.44374975_44374976insCCCCC | CA2638215059 | ITGA2B | c.2841+26_2841+27insGGGGG (n.2841+26_2841+27insGGGGG) c.2272+26_2272+27insGGGGG c.253+861_253+862insGGGGG n.2141_2142insGGGGG | gnomAD v4 |
17 | g.44374975_44374976insCCCCCC | CA2638215058 | ITGA2B | c.2841+26_2841+27insGGGGGG (n.2841+26_2841+27insGGGGGG) c.2272+26_2272+27insGGGGGG c.253+861_253+862insGGGGGG n.2141_2142insGGGGGG | gnomAD v4 |
17 | g.44374975_44374976insCCCCCCCCCC | CA2638215056 | ITGA2B | c.2841+26_2841+27insGGGGGGGGGG (n.2841+26_2841+27insGGGGGGGGGG) c.2272+26_2272+27insGGGGGGGGGG c.253+861_253+862insGGGGGGGGGG n.2141_2142insGGGGGGGGGG | gnomAD v4 |
17 | g.44374975_44374976insCCCCCACCCCC | CA2638215057 | ITGA2B | c.2841+26_2841+27insGTGGGGGGGGG (n.2841+26_2841+27insGTGGGGGGGGG) c.2272+26_2272+27insGTGGGGGGGGG c.253+861_253+862insGTGGGGGGGGG n.2141_2142insGTGGGGGGGGG | gnomAD v4 |
17 | g.44374975_44374976insCCCCCCCCCCC | CA2638215061 | ITGA2B | c.2841+26_2841+27insGGGGGGGGGGG (n.2841+26_2841+27insGGGGGGGGGGG) c.2272+26_2272+27insGGGGGGGGGGG c.253+861_253+862insGGGGGGGGGGG n.2141_2142insGGGGGGGGGGG | gnomAD v4 |
17 | g.44374975dup | CA2638215060 | ITGA2B | c.2841+26dup (n.2841+26dup) c.2272+26dup c.253+861dup n.2141dup | gnomAD v4 |
17 | g.44374973_44374975dup | CA2638215052 | ITGA2B | c.2841+24_2841+26dup (n.2841+24_2841+26dup) c.2272+24_2272+26dup c.253+859_253+861dup n.2139_2141dup | gnomAD v4 |
17 | g.44374975del | CA2638215054 | ITGA2B | c.2841+26del (n.2841+26del) c.2272+26del c.253+861del n.2141del | gnomAD v4 |
17 | g.44374973C>A | CA2638215063 | ITGA2B | c.2841+25G>T (n.2841+25G>T) c.2272+25G>T c.253+860G>T n.2140G>T | gnomAD v4 |
17 | g.44374973C= | CA2261365513 | ITGA2B | c.2841+25G= (n.2841+25G=) c.2272+25G= c.253+860G= n.2140G= | |
17 | g.44374973C>T | CA290946447 | ITGA2B | c.2841+25G>A (n.2841+25G>A) c.2272+25G>A c.253+860G>A n.2140G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374976_44374990dup | CA626119831 | ITGA2B | c.2841+11_2841+25dup (n.2841+11_2841+25dup) c.2272+11_2272+25dup c.253+846_253+860dup n.2126_2140dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374976_44374990del | CA2638215062 | ITGA2B | c.2841+11_2841+25del (n.2841+11_2841+25del) c.2272+11_2272+25del c.253+846_253+860del n.2126_2140del | gnomAD v4 |
17 | g.44374974C>T | CA2638215065 | ITGA2B | c.2841+24G>A (n.2841+24G>A) c.2272+24G>A c.253+859G>A n.2139G>A | gnomAD v4 |
17 | g.44374975_44374976insCCCCCCCCACC | CA2638215064 | ITGA2B | c.2841+24_2841+25insTGGGGGGGGGG (n.2841+24_2841+25insTGGGGGGGGGG) c.2272+24_2272+25insTGGGGGGGGGG c.253+859_253+860insTGGGGGGGGGG n.2139_2140insTGGGGGGGGGG | gnomAD v4 |
17 | g.44374975_44374976insCCCCCCCCCCCGCCCCCCCCCCCCACC | CA2638215066 | ITGA2B | c.2841+24_2841+25insTGGGGGGGGGGGGCGGGGGGGGGGGGG (n.2841+24_2841+25insTGGGGGGGGGGGGCGGGGGGGGGGGGG) c.2272+24_2272+25insTGGGGGGGGGGGGCGGGGGGGGGGGGG c.253+859_253+860insTGGGGGGGGGGGGCGGGGGGGGGGGGG n.2139_2140insTGGGGGGGGGGGGCGGGGGGGGGGGGG | gnomAD v4 |
17 | g.44374975C>A | CA2638215067 | ITGA2B | c.2841+23G>T (n.2841+23G>T) c.2272+23G>T c.253+858G>T n.2138G>T | gnomAD v4 |
17 | g.44374975C>G | CA2638215068 | ITGA2B | c.2841+23G>C (n.2841+23G>C) c.2272+23G>C c.253+858G>C n.2138G>C | gnomAD v4 |
17 | g.44374975C>T | CA2638215069 | ITGA2B | c.2841+23G>A (n.2841+23G>A) c.2272+23G>A c.253+858G>A n.2138G>A | dbSNP gnomAD v4 |
17 | g.44374976del | CA2576290941 | ITGA2B | c.2841+22del (n.2841+22del) c.2272+22del c.253+857del n.2137del | gnomAD v4 |
17 | g.44374976G>A | CA626119835 | ITGA2B | c.2841+22C>T (n.2841+22C>T) c.2272+22C>T c.253+857C>T n.2137C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374976G>C | CA626119836 | ITGA2B | c.2841+22C>G (n.2841+22C>G) c.2272+22C>G c.253+857C>G n.2137C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374976G= | CA2261365514 | ITGA2B | c.2841+22C= (n.2841+22C=) c.2272+22C= c.253+857C= n.2137C= | |
17 | g.44374976G>T | CA2638215070 | ITGA2B | c.2841+22C>A (n.2841+22C>A) c.2272+22C>A c.253+857C>A n.2137C>A | gnomAD v4 |
17 | g.44374977C>A | CA2638215073 | ITGA2B | c.2841+21G>T (n.2841+21G>T) c.2272+21G>T c.253+856G>T n.2136G>T | gnomAD v4 |
17 | g.44374977C>T | CA2638215072 | ITGA2B | c.2841+21G>A (n.2841+21G>A) c.2272+21G>A c.253+856G>A n.2136G>A | gnomAD v4 |
17 | g.44374980_44374981insCCCCC | CA2638215079 | ITGA2B | c.2841+21_2841+22insGGGGG (n.2841+21_2841+22insGGGGG) c.2272+21_2272+22insGGGGG c.253+856_253+857insGGGGG n.2136_2137insGGGGG | gnomAD v4 |
17 | g.44374980_44374981insCCCCCC | CA2638215078 | ITGA2B | c.2841+21_2841+22insGGGGGG (n.2841+21_2841+22insGGGGGG) c.2272+21_2272+22insGGGGGG c.253+856_253+857insGGGGGG n.2136_2137insGGGGGG | gnomAD v4 |
17 | g.44374980_44374981insCCCCCCC | CA2638215077 | ITGA2B | c.2841+21_2841+22insGGGGGGG (n.2841+21_2841+22insGGGGGGG) c.2272+21_2272+22insGGGGGGG c.253+856_253+857insGGGGGGG n.2136_2137insGGGGGGG | gnomAD v4 |
17 | g.44374980_44374981insCCCCCCCC | CA2638215076 | ITGA2B | c.2841+21_2841+22insGGGGGGGG (n.2841+21_2841+22insGGGGGGGG) c.2272+21_2272+22insGGGGGGGG c.253+856_253+857insGGGGGGGG n.2136_2137insGGGGGGGG | gnomAD v4 |
17 | g.44374980_44374981insCCCCCCGCCCCCCCC | CA2638215071 | ITGA2B | c.2841+21_2841+22insGGGGCGGGGGGGGGG (n.2841+21_2841+22insGGGGCGGGGGGGGGG) c.2272+21_2272+22insGGGGCGGGGGGGGGG c.253+856_253+857insGGGGCGGGGGGGGGG n.2136_2137insGGGGCGGGGGGGGGG | gnomAD v4 |
17 | g.44374980dup | CA2638215084 | ITGA2B | c.2841+21dup (n.2841+21dup) c.2272+21dup c.253+856dup n.2136dup | gnomAD v4 |
17 | g.44374979_44374980dup | CA2638215083 | ITGA2B | c.2841+20_2841+21dup (n.2841+20_2841+21dup) c.2272+20_2272+21dup c.253+855_253+856dup n.2135_2136dup | gnomAD v4 |
17 | g.44374978_44374980dup | CA2638215082 | ITGA2B | c.2841+19_2841+21dup (n.2841+19_2841+21dup) c.2272+19_2272+21dup c.253+854_253+856dup n.2134_2136dup | gnomAD v4 |
17 | g.44374977_44374980dup | CA2638215081 | ITGA2B | c.2841+18_2841+21dup (n.2841+18_2841+21dup) c.2272+18_2272+21dup c.253+853_253+856dup n.2133_2136dup | gnomAD v4 |
17 | g.44374980del | CA2638215075 | ITGA2B | c.2841+21del (n.2841+21del) c.2272+21del c.253+856del n.2136del | gnomAD v4 |
17 | g.44374979_44374983dup | CA2638215080 | ITGA2B | c.2841+17_2841+21dup (n.2841+17_2841+21dup) c.2272+17_2272+21dup c.253+852_253+856dup n.2132_2136dup | gnomAD v4 |
17 | g.44374984_44374998del | CA2638215074 | ITGA2B | c.2841+7_2841+21del c.2272+7_2272+21del c.253+842_253+856del n.2122_2136del | gnomAD v4 |
17 | g.44374978C>T | CA2576290942 | ITGA2B | c.2841+20G>A (n.2841+20G>A) c.2272+20G>A c.253+855G>A n.2135G>A | gnomAD v4 |
17 | g.44374979C>A | CA2638215085 | ITGA2B | c.2841+19G>T (n.2841+19G>T) c.2272+19G>T c.253+854G>T n.2134G>T | gnomAD v4 |
17 | g.44374979C>T | CA2576290943 | ITGA2B | c.2841+19G>A (n.2841+19G>A) c.2272+19G>A c.253+854G>A n.2134G>A | gnomAD v4 |
17 | g.44374980C>A | CA2638215088 | ITGA2B | c.2841+18G>T (n.2841+18G>T) c.2272+18G>T c.253+853G>T n.2133G>T | gnomAD v4 |
17 | g.44374980C= | CA2261365515 | ITGA2B | c.2841+18G= (n.2841+18G=) c.2272+18G= c.253+853G= n.2133G= | |
17 | g.44374980C>T | CA626119839 | ITGA2B | c.2841+18G>A (n.2841+18G>A) c.2272+18G>A c.253+853G>A n.2133G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44374981_44374982del | CA2638215087 | ITGA2B | c.2841+17_2841+18del (n.2841+17_2841+18del) c.2272+17_2272+18del c.253+852_253+853del n.2132_2133del | gnomAD v4 |
17 | g.44374981_44374988del | CA2638215086 | ITGA2B | c.2841+11_2841+18del (n.2841+11_2841+18del) c.2272+11_2272+18del c.253+846_253+853del n.2126_2133del | gnomAD v4 |
17 | g.44374981del | CA2638215089 | ITGA2B | c.2841+17del (n.2841+17del) c.2272+17del c.253+852del n.2132del | gnomAD v4 |
17 | g.44374981A= | CA2261365516 | ITGA2B | c.2841+17T= (n.2841+17T=) c.2272+17T= c.253+852T= n.2132T= | |
17 | g.44374981A>C | CA626119840 | ITGA2B | c.2841+17T>G (n.2841+17T>G) c.2272+17T>G c.253+852T>G n.2132T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374981_44374984del | CA2638215090 | ITGA2B | c.2841+14_2841+17del (n.2841+14_2841+17del) c.2272+14_2272+17del c.253+849_253+852del n.2129_2132del | gnomAD v4 |
17 | g.44374981_44374987del | CA2594317909 | ITGA2B | c.2841+11_2841+17del (n.2841+11_2841+17del) c.2272+11_2272+17del c.253+846_253+852del n.2126_2132del | gnomAD v3 gnomAD v4 |
17 | g.44374982C>A | CA2638215092 | ITGA2B | c.2841+16G>T (n.2841+16G>T) c.2272+16G>T c.253+851G>T n.2131G>T | gnomAD v4 |
17 | g.44374982C= | CA2261365517 | ITGA2B | c.2841+16G= (n.2841+16G=) c.2272+16G= c.253+851G= n.2131G= | |
17 | g.44374982C>T | CA626119846 | ITGA2B | c.2841+16G>A (n.2841+16G>A) c.2272+16G>A c.253+851G>A n.2131G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44374983dup | CA2638215091 | ITGA2B | c.2841+16dup (n.2841+16dup) c.2272+16dup c.253+851dup n.2131dup | gnomAD v4 |
17 | g.44374983C>A | CA290946452 | ITGA2B | c.2841+15G>T (n.2841+15G>T) c.2272+15G>T c.253+850G>T n.2130G>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374983C= | CA2261365518 | ITGA2B | c.2841+15G= (n.2841+15G=) c.2272+15G= c.253+850G= n.2130G= | |
17 | g.44374984A= | CA2261365519 | ITGA2B | c.2841+14T= (n.2841+14T=) c.2272+14T= c.253+849T= n.2129T= | |
17 | g.44374984A>C | CA983995174 | ITGA2B | c.2841+14T>G (n.2841+14T>G) c.2272+14T>G c.253+849T>G n.2129T>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374984A>G | CA626119849 | ITGA2B | c.2841+14T>C (n.2841+14T>C) c.2272+14T>C c.253+849T>C n.2129T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44374984_44374987del | CA2638215093 | ITGA2B | c.2841+11_2841+14del (n.2841+11_2841+14del) c.2272+11_2272+14del c.253+846_253+849del n.2126_2129del | gnomAD v4 |
17 | g.44374985del | CA2638215094 | ITGA2B | c.2841+13del (n.2841+13del) c.2272+13del c.253+848del n.2128del | gnomAD v4 |
17 | g.44374985C>A | CA290946454 | ITGA2B | c.2841+13G>T (n.2841+13G>T) c.2272+13G>T c.253+848G>T n.2128G>T | dbSNP gnomAD v4 |
17 | g.44374985C= | CA2261365520 | ITGA2B | c.2841+13G= (n.2841+13G=) c.2272+13G= c.253+848G= n.2128G= | |
17 | g.44374985C>T | CA8602570 | ITGA2B | c.2841+13G>A (n.2841+13G>A) c.2272+13G>A c.253+848G>A n.2128G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374985dup | CA2576290945 | ITGA2B | c.2841+13dup (n.2841+13dup) c.2272+13dup c.253+848dup n.2128dup | gnomAD v4 |
17 | g.44374986G>A | CA2638215097 | ITGA2B | c.2841+12C>T (n.2841+12C>T) c.2272+12C>T c.253+847C>T n.2127C>T | gnomAD v4 |
17 | g.44374986G>C | CA983995179 | ITGA2B | c.2841+12C>G (n.2841+12C>G) c.2272+12C>G c.253+847C>G n.2127C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374986G= | CA2261365521 | ITGA2B | c.2841+12C= (n.2841+12C=) c.2272+12C= c.253+847C= n.2127C= | |
17 | g.44374986G>T | CA2638215096 | ITGA2B | c.2841+12C>A (n.2841+12C>A) c.2272+12C>A c.253+847C>A n.2127C>A | gnomAD v4 |
17 | g.44374986_44374987del | CA2638215095 | ITGA2B | c.2841+11_2841+12del (n.2841+11_2841+12del) c.2272+11_2272+12del c.253+846_253+847del n.2126_2127del | gnomAD v4 |
17 | g.44374986_44374987insCCCCCCCCCCCCCCC | CA2638215098 | ITGA2B | c.2841+11_2841+12insGGGGGGGGGGGGGGG (n.2841+11_2841+12insGGGGGGGGGGGGGGG) c.2272+11_2272+12insGGGGGGGGGGGGGGG c.253+846_253+847insGGGGGGGGGGGGGGG n.2126_2127insGGGGGGGGGGGGGGG | gnomAD v4 |
17 | g.44374987G>A | CA2638215101 | ITGA2B | c.2841+11C>T (n.2841+11C>T) c.2272+11C>T c.253+846C>T n.2126C>T | gnomAD v4 |
17 | g.44374987G>C | CA2638215100 | ITGA2B | c.2841+11C>G (n.2841+11C>G) c.2272+11C>G c.253+846C>G n.2126C>G | gnomAD v4 |
17 | g.44374987G= | CA2261365522 | ITGA2B | c.2841+11C= (n.2841+11C=) c.2272+11C= c.253+846C= n.2126C= | |
17 | g.44374987G>T | CA2638215099 | ITGA2B | c.2841+11C>A (n.2841+11C>A) c.2272+11C>A c.253+846C>A n.2126C>A | gnomAD v4 |
17 | g.44374988C= | CA2261365523 | ITGA2B | c.2841+10G= (n.2841+10G=) c.2272+10G= c.253+845G= n.2125G= | |
17 | g.44374988C>G | CA626119859 | ITGA2B | c.2841+10G>C (n.2841+10G>C) c.2272+10G>C c.253+845G>C n.2125G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374988C>T | CA8602571 | ITGA2B | c.2841+10G>A (n.2841+10G>A) c.2272+10G>A c.253+845G>A n.2125G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44374988_44374990dup | CA2638215102 | ITGA2B | c.2841+8_2841+10dup (n.2841+8_2841+10dup) c.2272+8_2272+10dup c.253+843_253+845dup n.2123_2125dup | gnomAD v4 |
17 | g.44374990del | CA2638215103 | ITGA2B | c.2841+10del (n.2841+10del) c.2272+10del c.253+845del n.2125del | gnomAD v4 |
17 | g.44374994_44374998dup | CA626119855 | ITGA2B | c.2841+6_2841+10dup c.2272+6_2272+10dup c.253+841_253+845dup n.2121_2125dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374994_44374998del | CA2638215104 | ITGA2B | c.2841+6_2841+10del c.2272+6_2272+10del c.253+841_253+845del n.2121_2125del | gnomAD v4 |
17 | g.44374989C>A | CA2638215105 | ITGA2B | c.2841+9G>T (n.2841+9G>T) c.2272+9G>T c.253+844G>T n.2124G>T | gnomAD v4 |
17 | g.44374989C= | CA2261365524 | ITGA2B | c.2841+9G= (n.2841+9G=) c.2272+9G= c.253+844G= n.2124G= | |
17 | g.44374989C>G | CA626119863 | ITGA2B | c.2841+9G>C (n.2841+9G>C) c.2272+9G>C c.253+844G>C n.2124G>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44374989C>T | CA2638215106 | ITGA2B | c.2841+9G>A (n.2841+9G>A) c.2272+9G>A c.253+844G>A n.2124G>A | gnomAD v4 |
17 | g.44374990C>A | CA2638215107 | ITGA2B | c.2841+8G>T (n.2841+8G>T) c.2272+8G>T c.253+843G>T n.2123G>T | gnomAD v4 |
17 | g.44374990C= | CA2261365525 | ITGA2B | c.2841+8G= (n.2841+8G=) c.2272+8G= c.253+843G= n.2123G= | |
17 | g.44374990C>T | CA2261365526 | ITGA2B | c.2841+8G>A (n.2841+8G>A) c.2272+8G>A c.253+843G>A n.2123G>A | dbSNP gnomAD v4 |
17 | g.44374991del | CA2638215108 | ITGA2B | c.2841+7del (n.2841+7del) c.2272+7del c.253+842del n.2122del | gnomAD v4 |
17 | g.44374991A= | CA2261365527 | ITGA2B | c.2841+7T= (n.2841+7T=) c.2272+7T= c.253+842T= n.2122T= | |
17 | g.44374991A>C | CA626119865 | ITGA2B | c.2841+7T>G (n.2841+7T>G) c.2272+7T>G c.253+842T>G n.2122T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44374991A>G | CA2261365528 | ITGA2B | c.2841+7T>C (n.2841+7T>C) c.2272+7T>C c.253+842T>C n.2122T>C | dbSNP gnomAD v4 |
17 | g.44374991A>T | CA2638215109 | ITGA2B | c.2841+7T>A (n.2841+7T>A) c.2272+7T>A c.253+842T>A n.2122T>A | gnomAD v4 |
17 | g.44374992C>A | CA2638215111 | ITGA2B | c.2841+6G>T (n.2841+6G>T) c.2272+6G>T c.253+841G>T n.2121G>T | gnomAD v4 |
17 | g.44374992C>T | CA2638215112 | ITGA2B | c.2841+6G>A (n.2841+6G>A) c.2272+6G>A c.253+841G>A n.2121G>A | gnomAD v4 |
17 | g.44374995del | CA2638215110 | ITGA2B | c.2841+6del (n.2841+6del) c.2272+6del c.253+841del n.2121del | gnomAD v4 |
17 | g.44374993C>A | CA2638215113 | ITGA2B | c.2841+5G>T (n.2841+5G>T) c.2272+5G>T c.253+840G>T n.2120G>T | gnomAD v4 |
17 | g.44374993C= | CA2261365529 | ITGA2B | c.2841+5G= (n.2841+5G=) c.2272+5G= c.253+840G= n.2120G= | |
17 | g.44374993C>T | CA626119867 | ITGA2B | c.2841+5G>A (n.2841+5G>A) c.2272+5G>A c.253+840G>A n.2120G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44374994C>A | CA2638215114 | ITGA2B | c.2841+4G>T (n.2841+4G>T) c.2272+4G>T c.253+839G>T n.2119G>T | gnomAD v4 |
17 | g.44374994C>T | CA2638215115 | ITGA2B | c.2841+4G>A (n.2841+4G>A) c.2272+4G>A c.253+839G>A n.2119G>A | gnomAD v4 |
17 | g.44374995C>A | CA2261365531 | ITGA2B | c.2841+3G>T (n.2841+3G>T) c.2272+3G>T c.253+838G>T n.2118G>T | dbSNP gnomAD v4 |
17 | g.44374995C= | CA2261365530 | ITGA2B | c.2841+3G= (n.2841+3G=) c.2272+3G= c.253+838G= n.2118G= | |
17 | g.44374995C>T | CA2638215116 | ITGA2B | c.2841+3G>A (n.2841+3G>A) c.2272+3G>A c.253+838G>A n.2118G>A | gnomAD v4 |
17 | g.44374996del | CA2638215117 | ITGA2B | c.2841+2del (n.2841+2del) c.2272+2del c.253+837del n.2117del | gnomAD v4 |
17 | g.44374996A= | CA2261365532 | ITGA2B | c.2841+2T= (n.2841+2T=) c.2272+2T= c.253+837T= n.2117T= | |
17 | g.44374996A>C | CA399791495 | ITGA2B | c.2841+2T>G (n.2841+2T>G) c.2272+2T>G c.253+837T>G n.2117T>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374996A>G | CA399791499 | ITGA2B | c.2841+2T>C (n.2841+2T>C) c.2272+2T>C c.253+837T>C n.2117T>C | gnomAD v4 |
17 | g.44374996A>T | CA399791501 | ITGA2B | c.2841+2T>A (n.2841+2T>A) c.2272+2T>A c.253+837T>A n.2117T>A | |
17 | g.44374997C>A | CA399791504 | ITGA2B | c.2841+1G>T (n.2841+1G>T) c.2272+1G>T c.253+836G>T n.2116G>T | gnomAD v4 |
17 | g.44374997C>G | CA399791516 | ITGA2B | c.2841+1G>C (n.2841+1G>C) c.2272+1G>C c.253+836G>C n.2116G>C | |
17 | g.44374997C>T | CA399791513 | ITGA2B | c.2841+1G>A (n.2841+1G>A) c.2272+1G>A c.253+836G>A n.2116G>A | gnomAD v4 |
17 | g.44374998C>A | CA399791524 | ITGA2B | c.2841G>T (p.Gln947His) c.2272G>T c.253+835G>T n.2115G>T | gnomAD v4 |
17 | g.44374998C= | CA2261365533 | ITGA2B | c.2841G= (p.Gln947=) c.2272G= c.253+835G= n.2115G= | |
17 | g.44374998C>G | CA399791527 | ITGA2B | c.2841G>C (p.Gln947His) c.2272G>C c.253+835G>C n.2115G>C | dbSNP |
17 | g.44374998C>T | CA500263469 | ITGA2B | c.2841G>A (p.Gln947=) c.2272G>A c.253+835G>A n.2115G>A | |
17 | g.44374999T>A | CA399791528 | ITGA2B | c.2840A>T (p.Gln947Leu) c.2271A>T c.253+834A>T n.2114A>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374999T>C | CA399791530 | ITGA2B | c.2840A>G (p.Gln947Arg) c.2271A>G c.253+834A>G n.2114A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44374999T>G | CA399791529 | ITGA2B | c.2840A>C (p.Gln947Pro) c.2271A>C c.253+834A>C n.2114A>C | dbSNP gnomAD v4 |
17 | g.44374999T= | CA2261365534 | ITGA2B | c.2840A= (p.Gln947=) c.2271A= c.253+834A= n.2114A= | |
17 | g.44375000G>A | CA399791531 | ITGA2B | c.2839C>T (p.Gln947Ter) c.2270C>T c.253+833C>T n.2113C>T | gnomAD v4 |
17 | g.44375000G>C | CA399791533 | ITGA2B | c.2839C>G (p.Gln947Glu) c.2270C>G c.253+833C>G n.2113C>G | |
17 | g.44375000G>T | CA399791532 | ITGA2B | c.2839C>A (p.Gln947Lys) c.2270C>A c.253+833C>A n.2113C>A | gnomAD v4 |
17 | g.44375001del | CA2638215118 | ITGA2B | c.2839del (p.Gln947ArgfsTer?) c.2270del c.253+833del n.2113del | gnomAD v4 |
17 | g.44375001G>A | CA500263482 | ITGA2B | c.2838C>T (p.Tyr946=) c.2269C>T c.253+832C>T n.2112C>T | gnomAD v4 |
17 | g.44375001G>C | CA399791534 | ITGA2B | c.2838C>G (p.Tyr946Ter) c.2269C>G c.253+832C>G n.2112C>G | |
17 | g.44375001G>T | CA399791536 | ITGA2B | c.2838C>A (p.Tyr946Ter) c.2269C>A c.253+832C>A n.2112C>A | gnomAD v4 |
17 | g.44375002T>A | CA399791538 | ITGA2B | c.2837A>T (p.Tyr946Phe) c.2268A>T c.253+831A>T n.2111A>T | |
17 | g.44375002T>C | CA399791541 | ITGA2B | c.2837A>G (p.Tyr946Cys) c.2268A>G c.253+831A>G n.2111A>G | |
17 | g.44375002T>G | CA399791546 | ITGA2B | c.2837A>C (p.Tyr946Ser) c.2268A>C c.253+831A>C n.2111A>C | gnomAD v4 |
17 | g.44375003A>C | CA399791548 | ITGA2B | c.2836T>G (p.Tyr946Asp) c.2267T>G c.253+830T>G n.2110T>G | |
17 | g.44375003A>G | CA399791552 | ITGA2B | c.2836T>C (p.Tyr946His) c.2267T>C c.253+830T>C n.2110T>C | |
17 | g.44375003A>T | CA399791555 | ITGA2B | c.2836T>A (p.Tyr946Asn) c.2267T>A c.253+830T>A n.2110T>A | gnomAD v4 |
17 | g.44375004G>A | CA500263498 | ITGA2B | c.2835C>T (p.Leu945=) c.2266C>T c.253+829C>T n.2109C>T | COSMIC |
17 | g.44375004G>C | CA500263506 | ITGA2B | c.2835C>G (p.Leu945=) c.2266C>G c.253+829C>G n.2109C>G | |
17 | g.44375004G>T | CA500263508 | ITGA2B | c.2835C>A (p.Leu945=) c.2266C>A c.253+829C>A n.2109C>A | gnomAD v4 |
17 | g.44375005A>C | CA399791559 | ITGA2B | c.2834T>G (p.Leu945Arg) c.2265T>G c.253+828T>G n.2108T>G | |
17 | g.44375005A>G | CA399791561 | ITGA2B | c.2834T>C (p.Leu945Pro) c.2265T>C c.253+828T>C n.2108T>C | |
17 | g.44375005A>T | CA399791564 | ITGA2B | c.2834T>A (p.Leu945His) c.2265T>A c.253+828T>A n.2108T>A | gnomAD v4 |
17 | g.44375006G>A | CA399791567 | ITGA2B | c.2833C>T (p.Leu945Phe) c.2264C>T c.253+827C>T n.2107C>T | |
17 | g.44375006G>C | CA399791572 | ITGA2B | c.2833C>G (p.Leu945Val) c.2264C>G c.253+827C>G n.2107C>G | |
17 | g.44375006G>T | CA399791577 | ITGA2B | c.2833C>A (p.Leu945Ile) c.2264C>A c.253+827C>A n.2107C>A | gnomAD v4 |
17 | g.44375007G>A | CA500263523 | ITGA2B | c.2832C>T (p.Ser944=) c.2263C>T c.253+826C>T n.2106C>T | gnomAD v4 |
17 | g.44375007G>C | CA399791583 | ITGA2B | c.2832C>G (p.Ser944Arg) c.2263C>G c.253+826C>G n.2106C>G | |
17 | g.44375007G= | CA2261365535 | ITGA2B | c.2832C= (p.Ser944=) c.2263C= c.253+826C= n.2106C= | |
17 | g.44375007G>T | CA399791580 | ITGA2B | c.2832C>A (p.Ser944Arg) c.2263C>A c.253+826C>A n.2106C>A | dbSNP gnomAD v4 |
17 | g.44375008C>A | CA399791587 | ITGA2B | c.2831G>T (p.Ser944Ile) c.2262G>T c.253+825G>T n.2105G>T | |
17 | g.44375008C>G | CA399791591 | ITGA2B | c.2831G>C (p.Ser944Thr) c.2262G>C c.253+825G>C n.2105G>C | |
17 | g.44375008C>T | CA399791594 | ITGA2B | c.2831G>A (p.Ser944Asn) c.2262G>A c.253+825G>A n.2105G>A | gnomAD v4 |
17 | g.44375009T>A | CA399791597 | ITGA2B | c.2830A>T (p.Ser944Cys) c.2261A>T c.253+824A>T n.2104A>T | |
17 | g.44375009T>C | CA399791607 | ITGA2B | c.2830A>G (p.Ser944Gly) c.2261A>G c.253+824A>G n.2104A>G | gnomAD v4 |
17 | g.44375009T>G | CA399791608 | ITGA2B | c.2830A>C (p.Ser944Arg) c.2261A>C c.253+824A>C n.2104A>C | gnomAD v4 |
17 | g.44375010G>A | CA500263536 | ITGA2B | c.2829C>T (p.Pro943=) c.2260C>T c.253+823C>T n.2103C>T | gnomAD v4 |
17 | g.44375010G>C | CA500263539 | ITGA2B | c.2829C>G (p.Pro943=) c.2260C>G c.253+823C>G n.2103C>G | |
17 | g.44375010G>T | CA500263540 | ITGA2B | c.2829C>A (p.Pro943=) c.2260C>A c.253+823C>A n.2103C>A | gnomAD v4 |
17 | g.44375011G>A | CA399791611 | ITGA2B | c.2828C>T (p.Pro943Leu) c.2259C>T c.253+822C>T n.2102C>T | gnomAD v4 |
17 | g.44375011G>C | CA399791615 | ITGA2B | c.2828C>G (p.Pro943Arg) c.2259C>G c.253+822C>G n.2102C>G | |
17 | g.44375011G>T | CA399791618 | ITGA2B | c.2828C>A (p.Pro943His) c.2259C>A c.253+822C>A n.2102C>A | gnomAD v4 |
17 | g.44375012G>A | CA399791621 | ITGA2B | c.2827C>T (p.Pro943Ser) c.2258C>T c.253+821C>T n.2101C>T | gnomAD v4 |
17 | g.44375012G>C | CA399791625 | ITGA2B | c.2827C>G (p.Pro943Ala) c.2258C>G c.253+821C>G n.2101C>G | gnomAD v4 |
17 | g.44375012G>T | CA399791627 | ITGA2B | c.2827C>A (p.Pro943Thr) c.2258C>A c.253+821C>A n.2101C>A | gnomAD v4 |
17 | g.44375013C>A | CA500263550 | ITGA2B | c.2826G>T (p.Leu942=) c.2257G>T c.253+820G>T n.2100G>T | gnomAD v4 |
17 | g.44375013C= | CA2261365536 | ITGA2B | c.2826G= (p.Leu942=) c.2257G= c.253+820G= n.2100G= | |
17 | g.44375013C>G | CA500263552 | ITGA2B | c.2826G>C (p.Leu942=) c.2257G>C c.253+820G>C n.2100G>C | gnomAD v4 |
17 | g.44375013C>T | CA500263555 | ITGA2B | c.2826G>A (p.Leu942=) c.2257G>A c.253+820G>A n.2100G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44375014A>C | CA399791638 | ITGA2B | c.2825T>G (p.Leu942Arg) c.2256T>G c.253+819T>G n.2099T>G | gnomAD v4 |
17 | g.44375014A>G | CA399791635 | ITGA2B | c.2825T>C (p.Leu942Pro) c.2256T>C c.253+819T>C n.2099T>C | gnomAD v4 |
17 | g.44375014A>T | CA399791634 | ITGA2B | c.2825T>A (p.Leu942Gln) c.2256T>A c.253+819T>A n.2099T>A | |
17 | g.44375015G>A | CA500263575 | ITGA2B | c.2824C>T (p.Leu942=) c.2255C>T c.253+818C>T n.2098C>T | gnomAD v4 |
17 | g.44375015G>C | CA399791641 | ITGA2B | c.2824C>G (p.Leu942Val) c.2255C>G c.253+818C>G n.2098C>G | |
17 | g.44375015G>T | CA399791644 | ITGA2B | c.2824C>A (p.Leu942Met) c.2255C>A c.253+818C>A n.2098C>A | gnomAD v4 |
17 | g.44375016C>A | CA399791651 | ITGA2B | c.2823G>T (p.Trp941Cys) c.2254G>T c.253+817G>T n.2097G>T | |
17 | g.44375016C>G | CA399791653 | ITGA2B | c.2823G>C (p.Trp941Cys) c.2254G>C c.253+817G>C n.2097G>C | |
17 | g.44375016C>T | CA399791655 | ITGA2B | c.2823G>A (p.Trp941Ter) c.2254G>A c.253+817G>A n.2097G>A | gnomAD v4 |
17 | g.44375017C>A | CA399791656 | ITGA2B | c.2822G>T (p.Trp941Leu) c.2253G>T c.253+816G>T n.2096G>T | gnomAD v4 COSMIC |
17 | g.44375017C>G | CA399791659 | ITGA2B | c.2822G>C (p.Trp941Ser) c.2253G>C c.253+816G>C n.2096G>C | |
17 | g.44375017C>T | CA399791662 | ITGA2B | c.2822G>A (p.Trp941Ter) c.2253G>A c.253+816G>A n.2096G>A | gnomAD v4 |
17 | g.44375018A>C | CA399791666 | ITGA2B | c.2821T>G (p.Trp941Gly) c.2252T>G c.253+815T>G n.2095T>G | |
17 | g.44375018A>G | CA399791669 | ITGA2B | c.2821T>C (p.Trp941Arg) c.2252T>C c.253+815T>C n.2095T>C | gnomAD v4 |
17 | g.44375018A>T | CA399791671 | ITGA2B | c.2821T>A (p.Trp941Arg) c.2252T>A c.253+815T>A n.2095T>A | |
17 | g.44375019C>A | CA500263596 | ITGA2B | c.2820G>T (p.Leu940=) c.2251G>T c.253+814G>T n.2094G>T | |
17 | g.44375019C>G | CA500263597 | ITGA2B | c.2820G>C (p.Leu940=) c.2251G>C c.253+814G>C n.2094G>C | |
17 | g.44375019C>T | CA500263600 | ITGA2B | c.2820G>A (p.Leu940=) c.2251G>A c.253+814G>A n.2094G>A | gnomAD v4 |
17 | g.44375020A= | CA2261365537 | ITGA2B | c.2819T= (p.Leu940=) c.2250T= c.253+813T= n.2093T= | |
17 | g.44375020A>C | CA399791682 | ITGA2B | c.2819T>G (p.Leu940Arg) c.2250T>G c.253+813T>G n.2093T>G | ClinVar gnomAD v4 |
17 | g.44375020A>G | CA399791679 | ITGA2B | c.2819T>C (p.Leu940Pro) c.2250T>C c.253+813T>C n.2093T>C | gnomAD v4 |
17 | g.44375020A>T | CA399791674 | ITGA2B | c.2819T>A (p.Leu940Gln) c.2250T>A c.253+813T>A n.2093T>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44375021G>A | CA500263609 | ITGA2B | c.2818C>T (p.Leu940=) c.2249C>T c.253+812C>T n.2092C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44375021G>C | CA399791684 | ITGA2B | c.2818C>G (p.Leu940Val) c.2249C>G c.253+812C>G n.2092C>G | |
17 | g.44375021G= | CA2261365538 | ITGA2B | c.2818C= (p.Leu940=) c.2249C= c.253+812C= n.2092C= | |
17 | g.44375021G>T | CA399791685 | ITGA2B | c.2818C>A (p.Leu940Met) c.2249C>A c.253+812C>A n.2092C>A | gnomAD v4 |
17 | g.44375022G>A | CA500263613 | ITGA2B | c.2817C>T (p.Phe939=) c.2248C>T c.253+811C>T n.2091C>T | ClinVar gnomAD v4 |
17 | g.44375022G>C | CA399791689 | ITGA2B | c.2817C>G (p.Phe939Leu) c.2248C>G c.253+811C>G n.2091C>G | |
17 | g.44375022G= | CA2261365539 | ITGA2B | c.2817C= (p.Phe939=) c.2248C= c.253+811C= n.2091C= | |
17 | g.44375022G>T | CA399791693 | ITGA2B | c.2817C>A (p.Phe939Leu) c.2248C>A c.253+811C>A n.2091C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44375023A>C | CA399791696 | ITGA2B | c.2816T>G (p.Phe939Cys) c.2247T>G c.253+810T>G n.2090T>G | |
17 | g.44375023A>G | CA399791709 | ITGA2B | c.2816T>C (p.Phe939Ser) c.2247T>C c.253+810T>C n.2090T>C | |
17 | g.44375023A>T | CA399791712 | ITGA2B | c.2816T>A (p.Phe939Tyr) c.2247T>A c.253+810T>A n.2090T>A | |
17 | g.44375024A>C | CA399791716 | ITGA2B | c.2815T>G (p.Phe939Val) c.2246T>G c.253+809T>G n.2089T>G | |
17 | g.44375024A>G | CA399791720 | ITGA2B | c.2815T>C (p.Phe939Leu) c.2246T>C c.253+809T>C n.2089T>C | gnomAD v4 |
17 | g.44375024A>T | CA399791722 | ITGA2B | c.2815T>A (p.Phe939Ile) c.2246T>A c.253+809T>A n.2089T>A | |
17 | g.44375025G>A | CA290946477 | ITGA2B | c.2814C>T (p.Ala938=) c.2245C>T c.253+808C>T n.2088C>T | dbSNP gnomAD v4 |
17 | g.44375025G>C | CA500263628 | ITGA2B | c.2814C>G (p.Ala938=) c.2245C>G c.253+808C>G n.2088C>G | |
17 | g.44375025G= | CA2261365540 | ITGA2B | c.2814C= (p.Ala938=) c.2245C= c.253+808C= n.2088C= | |
17 | g.44375025G>T | CA500263629 | ITGA2B | c.2814C>A (p.Ala938=) c.2245C>A c.253+808C>A n.2088C>A | gnomAD v4 |
17 | g.44375026G>A | CA399791727 | ITGA2B | c.2813C>T (p.Ala938Val) c.2244C>T c.253+807C>T n.2087C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44375026G>C | CA399791730 | ITGA2B | c.2813C>G (p.Ala938Gly) c.2244C>G c.253+807C>G n.2087C>G | dbSNP |
17 | g.44375026G= | CA2261365541 | ITGA2B | c.2813C= (p.Ala938=) c.2244C= c.253+807C= n.2087C= | |
17 | g.44375026G>T | CA399791734 | ITGA2B | c.2813C>A (p.Ala938Asp) c.2244C>A c.253+807C>A n.2087C>A | gnomAD v4 |
17 | g.44375027C>A | CA399791743 | ITGA2B | c.2812G>T (p.Ala938Ser) c.2243G>T c.253+806G>T n.2086G>T | gnomAD v4 |
17 | g.44375027C>G | CA399791740 | ITGA2B | c.2812G>C (p.Ala938Pro) c.2243G>C c.253+806G>C n.2086G>C | |
17 | g.44375027C>T | CA399791738 | ITGA2B | c.2812G>A (p.Ala938Thr) c.2243G>A c.253+806G>A n.2086G>A | gnomAD v4 |
17 | g.44375028C>A | CA500263639 | ITGA2B | c.2811G>T (p.Leu937=) c.2242G>T c.253+805G>T n.2085G>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44375028C= | CA2261365542 | ITGA2B | c.2811G= (p.Leu937=) c.2242G= c.253+805G= n.2085G= | |
17 | g.44375028C>G | CA500263642 | ITGA2B | c.2811G>C (p.Leu937=) c.2242G>C c.253+805G>C n.2085G>C | |
17 | g.44375028C>T | CA500263644 | ITGA2B | c.2811G>A (p.Leu937=) c.2242G>A c.253+805G>A n.2085G>A | gnomAD v4 |
17 | g.44375029A>C | CA399791749 | ITGA2B | c.2810T>G (p.Leu937Arg) c.2241T>G c.253+804T>G n.2084T>G | |
17 | g.44375029A>G | CA399791747 | ITGA2B | c.2810T>C (p.Leu937Pro) c.2241T>C c.253+804T>C n.2084T>C | gnomAD v4 |
17 | g.44375029A>T | CA399791753 | ITGA2B | c.2810T>A (p.Leu937Gln) c.2241T>A c.253+804T>A n.2084T>A | gnomAD v4 |
17 | g.44375030G>A | CA500263650 | ITGA2B | c.2809C>T (p.Leu937=) c.2240C>T c.253+803C>T n.2083C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44375030G>C | CA399791758 | ITGA2B | c.2809C>G (p.Leu937Val) c.2240C>G c.253+803C>G n.2083C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44375030G= | CA2261365543 | ITGA2B | c.2809C= (p.Leu937=) c.2240C= c.253+803C= n.2083C= | |
17 | g.44375030G>T | CA399791760 | ITGA2B | c.2809C>A (p.Leu937Met) c.2240C>A c.253+803C>A n.2083C>A | gnomAD v4 |
17 | g.44375031C>A | CA500263652 | ITGA2B | c.2808G>T (p.Val936=) c.2239G>T c.253+802G>T n.2082G>T | gnomAD v4 |
17 | g.44375031C= | CA2261365544 | ITGA2B | c.2808G= (p.Val936=) c.2239G= c.253+802G= n.2082G= | |
17 | g.44375031C>G | CA500263655 | ITGA2B | c.2808G>C (p.Val936=) c.2239G>C c.253+802G>C n.2082G>C | |
17 | g.44375031C>T | CA500263656 | ITGA2B | c.2808G>A (p.Val936=) c.2239G>A c.253+802G>A n.2082G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44375032del | CA2638215119 | ITGA2B | c.2807del (p.Val936GlyfsTer?) c.2238del c.253+801del n.2081del | gnomAD v4 |
17 | g.44375032A>C | CA399791764 | ITGA2B | c.2807T>G (p.Val936Gly) c.2238T>G c.253+801T>G n.2081T>G | |
17 | g.44375032A>G | CA399791767 | ITGA2B | c.2807T>C (p.Val936Ala) c.2238T>C c.253+801T>C n.2081T>C | gnomAD v4 |
17 | g.44375032A>T | CA399791769 | ITGA2B | c.2807T>A (p.Val936Glu) c.2238T>A c.253+801T>A n.2081T>A | |
17 | g.44375033C>A | CA399791776 | ITGA2B | c.2806G>T (p.Val936Leu) c.2237G>T c.253+800G>T n.2080G>T | |
17 | g.44375033C= | CA2261365545 | ITGA2B | c.2806G= (p.Val936=) c.2237G= c.253+800G= n.2080G= | |
17 | g.44375033C>G | CA399791778 | ITGA2B | c.2806G>C (p.Val936Leu) c.2237G>C c.253+800G>C n.2080G>C | |
17 | g.44375033C>T | CA399791781 | ITGA2B | c.2806G>A (p.Val936Met) c.2237G>A c.253+800G>A n.2080G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44375034C>A | CA500263665 | ITGA2B | c.2805G>T (p.Thr935=) c.2236G>T c.253+799G>T n.2079G>T | gnomAD v4 |
17 | g.44375034C= | CA2261365546 | ITGA2B | c.2805G= (p.Thr935=) c.2236G= c.253+799G= n.2079G= | |
17 | g.44375034C>G | CA500263668 | ITGA2B | c.2805G>C (p.Thr935=) c.2236G>C c.253+799G>C n.2079G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44375034C>T | CA500263670 | ITGA2B | c.2805G>A (p.Thr935=) c.2236G>A c.253+799G>A n.2079G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44375035G>A | CA399791785 | ITGA2B | c.2804C>T (p.Thr935Met) c.2235C>T c.253+798C>T n.2078C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44375035G>C | CA399791788 | ITGA2B | c.2804C>G (p.Thr935Arg) c.2235C>G c.253+798C>G n.2078C>G | gnomAD v4 |
17 | g.44375035G= | CA2261365547 | ITGA2B | c.2804C= (p.Thr935=) c.2235C= c.253+798C= n.2078C= | |
17 | g.44375035G>T | CA399791790 | ITGA2B | c.2804C>A (p.Thr935Lys) c.2235C>A c.253+798C>A n.2078C>A | gnomAD v4 |
17 | g.44375036T>A | CA399791803 | ITGA2B | c.2803A>T (p.Thr935Ser) c.2234A>T c.253+797A>T n.2077A>T | |
17 | g.44375036T>C | CA399791800 | ITGA2B | c.2803A>G (p.Thr935Ala) c.2234A>G c.253+797A>G n.2077A>G | |
17 | g.44375036T>G | CA399791795 | ITGA2B | c.2803A>C (p.Thr935Pro) c.2234A>C c.253+797A>C n.2077A>C | |
17 | g.44375037G>A | CA500263682 | ITGA2B | c.2802C>T (p.Val934=) c.2233C>T c.253+796C>T n.2076C>T | |
17 | g.44375037G>C | CA500263685 | ITGA2B | c.2802C>G (p.Val934=) c.2233C>G c.253+796C>G n.2076C>G | |
17 | g.44375037G>T | CA500263681 | ITGA2B | c.2802C>A (p.Val934=) c.2233C>A c.253+796C>A n.2076C>A | gnomAD v4 |
17 | g.44375038A>C | CA399791808 | ITGA2B | c.2801T>G (p.Val934Gly) c.2232T>G c.253+795T>G n.2075T>G | |
17 | g.44375038A>G | CA399791810 | ITGA2B | c.2801T>C (p.Val934Ala) c.2232T>C c.253+795T>C n.2075T>C | gnomAD v4 |
17 | g.44375038A>T | CA399791815 | ITGA2B | c.2801T>A (p.Val934Asp) c.2232T>A c.253+795T>A n.2075T>A | |
17 | g.44375039C>A | CA290946484 | ITGA2B | c.2800G>T (p.Val934Phe) c.2231G>T c.253+794G>T n.2074G>T | ClinVar dbSNP gnomAD v4 |
17 | g.44375039C= | CA2261365548 | ITGA2B | c.2800G= (p.Val934=) c.2231G= c.253+794G= n.2074G= | |
17 | g.44375039C>G | CA399791823 | ITGA2B | c.2800G>C (p.Val934Leu) c.2231G>C c.253+794G>C n.2074G>C | |
17 | g.44375039C>T | CA399791826 | ITGA2B | c.2800G>A (p.Val934Ile) c.2231G>A c.253+794G>A n.2074G>A | |
17 | g.44375040C>A | CA399791831 | ITGA2B | c.2799G>T (p.Met933Ile) c.2230G>T c.253+793G>T n.2073G>T | gnomAD v4 |
17 | g.44375040C>G | CA399791833 | ITGA2B | c.2799G>C (p.Met933Ile) c.2230G>C c.253+793G>C n.2073G>C | |
17 | g.44375040C>T | CA399791836 | ITGA2B | c.2799G>A (p.Met933Ile) c.2230G>A c.253+793G>A n.2073G>A | gnomAD v4 |
17 | g.44375041A>C | CA399791840 | ITGA2B | c.2798T>G (p.Met933Arg) c.2229T>G c.253+792T>G n.2072T>G | |
17 | g.44375041A>G | CA399791843 | ITGA2B | c.2798T>C (p.Met933Thr) c.2229T>C c.253+792T>C n.2072T>C | gnomAD v4 |
17 | g.44375041A>T | CA399791846 | ITGA2B | c.2798T>A (p.Met933Lys) c.2229T>A c.253+792T>A n.2072T>A | |
17 | g.44375042T>A | CA399791854 | ITGA2B | c.2797A>T (p.Met933Leu) c.2228A>T c.253+791A>T n.2071A>T | dbSNP gnomAD v2 |
17 | g.44375042T>C | CA399791857 | ITGA2B | c.2797A>G (p.Met933Val) c.2228A>G c.253+791A>G n.2071A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44375042T>G | CA399791851 | ITGA2B | c.2797A>C (p.Met933Leu) c.2228A>C c.253+791A>C n.2071A>C | |
17 | g.44375042T= | CA2261365549 | ITGA2B | c.2797A= (p.Met933=) c.2228A= c.253+791A= n.2071A= | |
17 | g.44375043G>A | CA500263711 | ITGA2B | c.2796C>T (p.Ala932=) c.2227C>T c.253+790C>T n.2070C>T | gnomAD v4 |
17 | g.44375043G>C | CA500263713 | ITGA2B | c.2796C>G (p.Ala932=) c.2227C>G c.253+790C>G n.2070C>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44375043G= | CA2261365550 | ITGA2B | c.2796C= (p.Ala932=) c.2227C= c.253+790C= n.2070C= | |
17 | g.44375043G>T | CA500263712 | ITGA2B | c.2796C>A (p.Ala932=) c.2227C>A c.253+790C>A n.2070C>A | gnomAD v4 |
17 | g.44375044G>A | CA399791862 | ITGA2B | c.2795C>T (p.Ala932Val) c.2226C>T c.253+789C>T n.2069C>T | |
17 | g.44375044G>C | CA399791865 | ITGA2B | c.2795C>G (p.Ala932Gly) c.2226C>G c.253+789C>G n.2069C>G | |
17 | g.44375044G= | CA2261365551 | ITGA2B | c.2795C= (p.Ala932=) c.2226C= c.253+789C= n.2069C= | |
17 | g.44375044G>T | CA399791867 | ITGA2B | c.2795C>A (p.Ala932Asp) c.2226C>A c.253+789C>A n.2069C>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44375045C>A | CA399791868 | ITGA2B | c.2794G>T (p.Ala932Ser) c.2225G>T c.253+788G>T n.2068G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44375045C= | CA2261365552 | ITGA2B | c.2794G= (p.Ala932=) c.2225G= c.253+788G= n.2068G= | |
17 | g.44375045C>G | CA399791869 | ITGA2B | c.2794G>C (p.Ala932Pro) c.2225G>C c.253+788G>C n.2068G>C | |
17 | g.44375045C>T | CA290946489 | ITGA2B | c.2794G>A (p.Ala932Thr) c.2225G>A c.253+788G>A n.2068G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44375047dup | CA2638215120 | ITGA2B | c.2794dup (p.Ala932GlyfsTer?) c.2225dup c.253+788dup n.2068dup | gnomAD v4 |
17 | g.44375046C>A | CA500263723 | ITGA2B | c.2793G>T (p.Arg931=) c.2224G>T c.253+787G>T n.2067G>T | gnomAD v4 |
17 | g.44375046C= | CA2261365553 | ITGA2B | c.2793G= (p.Arg931=) c.2224G= c.253+787G= n.2067G= | |
17 | g.44375046C>G | CA500263726 | ITGA2B | c.2793G>C (p.Arg931=) c.2224G>C c.253+787G>C n.2067G>C | gnomAD v4 |
17 | g.44375046C>T | CA500263727 | ITGA2B | c.2793G>A (p.Arg931=) c.2224G>A c.253+787G>A n.2067G>A | dbSNP gnomAD v2 |
17 | g.44375047C>A | CA399791871 | ITGA2B | c.2792G>T (p.Arg931Leu) c.2223G>T c.253+786G>T n.2066G>T | gnomAD v4 |
17 | g.44375047C= | CA2261365554 | ITGA2B | c.2792G= (p.Arg931=) c.2223G= c.253+786G= n.2066G= | |
17 | g.44375047C>G | CA399791873 | ITGA2B | c.2792G>C (p.Arg931Pro) c.2223G>C c.253+786G>C n.2066G>C | |
17 | g.44375047C>T | CA399791876 | ITGA2B | c.2792G>A (p.Arg931Gln) c.2223G>A c.253+786G>A n.2066G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44375048G>A | CA290946494 | ITGA2B | c.2791C>T (p.Arg931Trp) c.2222C>T c.253+785C>T n.2065C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44375048G>C | CA399791880 | ITGA2B | c.2791C>G (p.Arg931Gly) c.2222C>G c.253+785C>G n.2065C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44375048G= | CA2261365555 | ITGA2B | c.2791C= (p.Arg931=) c.2222C= c.253+785C= n.2065C= | |
17 | g.44375048G>T | CA500263733 | ITGA2B | c.2791C>A (p.Arg931=) c.2222C>A c.253+785C>A n.2065C>A | gnomAD v4 |
17 | g.44375048_44375052delinsGCTGC | CA2261365556 | ITGA2B | c.2787_2791delinsGCAGC (p.Gly929=) c.2218_2222delinsGCAGC c.253+781_253+785delinsGCAGC n.2061_2065delinsGCAGC | |
17 | g.44375049C>A | CA399791885 | ITGA2B | c.2790G>T (p.Gln930His) c.2221G>T c.253+784G>T n.2064G>T | gnomAD v4 |
17 | g.44375049C>G | CA399791888 | ITGA2B | c.2790G>C (p.Gln930His) c.2221G>C c.253+784G>C n.2064G>C | |
17 | g.44375049C>T | CA500263742 | ITGA2B | c.2790G>A (p.Gln930=) c.2221G>A c.253+784G>A n.2064G>A | gnomAD v4 |
17 | g.44375050_44375053del | CA290946500 | ITGA2B | c.2787_2790del (p.Gln930GlyfsTer?) c.2218_2221del c.253+781_253+784del n.2061_2064del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44375050T>A | CA399791899 | ITGA2B | c.2789A>T (p.Gln930Leu) c.2220A>T c.253+783A>T n.2063A>T | |
17 | g.44375050T>C | CA399791896 | ITGA2B | c.2789A>G (p.Gln930Arg) c.2220A>G c.253+783A>G n.2063A>G | gnomAD v4 |
17 | g.44375050T>G | CA399791893 | ITGA2B | c.2789A>C (p.Gln930Pro) c.2220A>C c.253+783A>C n.2063A>C | |
17 | g.44375051G>A | CA399791903 | ITGA2B | c.2788C>T (p.Gln930Ter) c.2219C>T c.253+782C>T n.2062C>T | gnomAD v4 |
17 | g.44375051G>C | CA399791904 | ITGA2B | c.2788C>G (p.Gln930Glu) c.2219C>G c.253+782C>G n.2062C>G | dbSNP |
17 | g.44375051G= | CA2261365557 | ITGA2B | c.2788C= (p.Gln930=) c.2219C= c.253+782C= n.2062C= | |
17 | g.44375051G>T | CA399791908 | ITGA2B | c.2788C>A (p.Gln930Lys) c.2219C>A c.253+782C>A n.2062C>A | gnomAD v4 |
17 | g.44375052C>A | CA500263752 | ITGA2B | c.2787G>T (p.Gly929=) c.2218G>T c.253+781G>T n.2061G>T | |
17 | g.44375052C= | CA2261365558 | ITGA2B | c.2787G= (p.Gly929=) c.2218G= c.253+781G= n.2061G= | |
17 | g.44375052C>G | CA500263755 | ITGA2B | c.2787G>C (p.Gly929=) c.2218G>C c.253+781G>C n.2061G>C | gnomAD v4 |
17 | g.44375052C>T | CA500263758 | ITGA2B | c.2787G>A (p.Gly929=) c.2218G>A c.253+781G>A n.2061G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44375053C>A | CA399791913 | ITGA2B | c.2786G>T (p.Gly929Val) c.2217G>T c.253+780G>T n.2060G>T | gnomAD v4 |
17 | g.44375053C= | CA2261365560 | ITGA2B | c.2786G= (p.Gly929=) c.2217G= c.253+780G= n.2060G= | |
17 | g.44375053C>G | CA399791914 | ITGA2B | c.2786G>C (p.Gly929Ala) c.2217G>C c.253+780G>C n.2060G>C | |
17 | g.44375053C>T | CA399791916 | ITGA2B | c.2786G>A (p.Gly929Glu) c.2217G>A c.253+780G>A n.2060G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44375053_44375055delinsCCG | CA2261365559 | ITGA2B | c.2784_2786delinsCGG (p.Arg928=) c.2215_2217delinsCGG c.253+778_253+780delinsCGG n.2058_2060delinsCGG | |
17 | g.44375054C>A | CA399791920 | ITGA2B | c.2785G>T (p.Gly929Trp) c.2216G>T c.253+779G>T n.2059G>T | gnomAD v4 |
17 | g.44375054C= | CA2261365561 | ITGA2B | c.2785G= (p.Gly929=) c.2216G= c.253+779G= n.2059G= | |
17 | g.44375054C>G | CA399791924 | ITGA2B | c.2785G>C (p.Gly929Arg) c.2216G>C c.253+779G>C n.2059G>C | |
17 | g.44375054C>T | CA399791927 | ITGA2B | c.2785G>A (p.Gly929Arg) c.2216G>A c.253+779G>A n.2059G>A | dbSNP gnomAD v4 |
17 | g.44375059_44375060del | CA8602572 | ITGA2B | c.2784_2785del (p.Gly929AlafsTer?) c.2215_2216del c.253+778_253+779del n.2058_2059del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44375055G>A | CA500263775 | ITGA2B | c.2784C>T (p.Arg928=) c.2215C>T c.253+778C>T n.2058C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44375055G>C | CA500263774 | ITGA2B | c.2784C>G (p.Arg928=) c.2215C>G c.253+778C>G n.2058C>G | gnomAD v4 |
17 | g.44375055G= | CA2261365562 | ITGA2B | c.2784C= (p.Arg928=) c.2215C= c.253+778C= n.2058C= | |
17 | g.44375055G>T | CA500263771 | ITGA2B | c.2784C>A (p.Arg928=) c.2215C>A c.253+778C>A n.2058C>A | gnomAD v4 |
17 | g.44375056C>A | CA399791933 | ITGA2B | c.2783G>T (p.Arg928Leu) c.2214G>T c.253+777G>T n.2057G>T | gnomAD v4 |
17 | g.44375056C= | CA2261365563 | ITGA2B | c.2783G= (p.Arg928=) c.2214G= c.253+777G= n.2057G= | |
17 | g.44375056C>G | CA399791937 | ITGA2B | c.2783G>C (p.Arg928Pro) c.2214G>C c.253+777G>C n.2057G>C | |
17 | g.44375056C>T | CA399791938 | ITGA2B | c.2783G>A (p.Arg928His) c.2214G>A c.253+777G>A n.2057G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44375057G>A | CA8602573 | ITGA2B | c.2782C>T (p.Arg928Cys) c.2213C>T c.253+776C>T n.2056C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44375057G>C | CA399791948 | ITGA2B | c.2782C>G (p.Arg928Gly) c.2213C>G c.253+776C>G n.2056C>G | gnomAD v4 |
17 | g.44375057G= | CA2261365564 | ITGA2B | c.2782C= (p.Arg928=) c.2213C= c.253+776C= n.2056C= | |
17 | g.44375057G>T | CA399791944 | ITGA2B | c.2782C>A (p.Arg928Ser) c.2213C>A c.253+776C>A n.2056C>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44375058C>A | CA500263786 | ITGA2B | c.2781G>T (p.Ala927=) c.2212G>T c.253+775G>T n.2055G>T | |
17 | g.44375058C= | CA2261365565 | ITGA2B | c.2781G= (p.Ala927=) c.2212G= c.253+775G= n.2055G= | |
17 | g.44375058C>G | CA500263790 | ITGA2B | c.2781G>C (p.Ala927=) c.2212G>C c.253+775G>C n.2055G>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44375058C>T | CA500263789 | ITGA2B | c.2781G>A (p.Ala927=) c.2212G>A c.253+775G>A n.2055G>A | gnomAD v4 |
17 | g.44375058dup | CA2261365566 | ITGA2B | c.2781dup (p.Arg928AlafsTer?) c.2212dup c.253+775dup n.2055dup | dbSNP |
17 | g.44375059G>A | CA399791951 | ITGA2B | c.2780C>T (p.Ala927Val) c.2211C>T c.253+774C>T n.2054C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.44375059G>C | CA399791957 | ITGA2B | c.2780C>G (p.Ala927Gly) c.2211C>G c.253+774C>G n.2054C>G | |
17 | g.44375059G= | CA2261365567 | ITGA2B | c.2780C= (p.Ala927=) c.2211C= c.253+774C= n.2054C= | |
17 | g.44375059G>T | CA399791953 | ITGA2B | c.2780C>A (p.Ala927Glu) c.2211C>A c.253+774C>A n.2054C>A | gnomAD v4 |
17 | g.44375060C>A | CA399791962 | ITGA2B | c.2779G>T (p.Ala927Ser) c.2210G>T c.253+773G>T n.2053G>T | gnomAD v4 |
17 | g.44375060C= | CA2261365568 | ITGA2B | c.2779G= (p.Ala927=) c.2210G= c.253+773G= n.2053G= | |
17 | g.44375060C>G | CA399791964 | ITGA2B | c.2779G>C (p.Ala927Pro) c.2210G>C c.253+773G>C n.2053G>C | |
17 | g.44375060C>T | CA399791968 | ITGA2B | c.2779G>A (p.Ala927Thr) c.2210G>A c.253+773G>A n.2053G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44375061C>A | CA399791970 | ITGA2B | c.2778G>T (p.Met926Ile) c.2209G>T c.253+772G>T n.2052G>T | |
17 | g.44375061C= | CA2261365569 | ITGA2B | c.2778G= (p.Met926=) c.2209G= c.253+772G= n.2052G= | |
17 | g.44375061C>G | CA399791973 | ITGA2B | c.2778G>C (p.Met926Ile) c.2209G>C c.253+772G>C n.2052G>C | |
17 | g.44375061C>T | CA399791976 | ITGA2B | c.2778G>A (p.Met926Ile) c.2209G>A c.253+772G>A n.2052G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44375062A= | CA2261365570 | ITGA2B | c.2777T= (p.Met926=) c.2208T= c.253+771T= n.2051T= | |
17 | g.44375062A>C | CA399791984 | ITGA2B | c.2777T>G (p.Met926Arg) c.2208T>G c.253+771T>G n.2051T>G | |
17 | g.44375062A>G | CA399791979 | ITGA2B | c.2777T>C (p.Met926Thr) c.2208T>C c.253+771T>C n.2051T>C | dbSNP gnomAD v4 |
17 | g.44375062A>T | CA399791982 | ITGA2B | c.2777T>A (p.Met926Lys) c.2208T>A c.253+771T>A n.2051T>A | gnomAD v4 |
17 | g.44375063del | CA2638215121 | ITGA2B | c.2776del (p.Met926TrpfsTer?) c.2207del c.253+770del n.2050del | gnomAD v4 |
17 | g.44375063T>A | CA399791989 | ITGA2B | c.2776A>T (p.Met926Leu) c.2207A>T c.253+770A>T n.2050A>T | gnomAD v4 |
17 | g.44375063T>C | CA399791993 | ITGA2B | c.2776A>G (p.Met926Val) c.2207A>G c.253+770A>G n.2050A>G | |
17 | g.44375063T>G | CA399791996 | ITGA2B | c.2776A>C (p.Met926Leu) c.2207A>C c.253+770A>C n.2050A>C | |
17 | g.44375064C>A | CA399791999 | ITGA2B | c.2775G>T (p.Glu925Asp) c.2206G>T c.253+769G>T n.2049G>T | gnomAD v4 |
17 | g.44375064C>G | CA399792002 | ITGA2B | c.2775G>C (p.Glu925Asp) c.2206G>C c.253+769G>C n.2049G>C | |
17 | g.44375064C>T | CA500263811 | ITGA2B | c.2775G>A (p.Glu925=) c.2206G>A c.253+769G>A n.2049G>A |