Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44374936_44374980delCA2638214982ITGA2Bc.2841+27_2841+71del (n.2841+27_2841+71del)
c.2272+27_2272+71del
c.253+862_253+906del
n.2142_2186del
 gnomAD v4
17g.44374952_44374971delinsTCCCCGCCCAGAAGGCCCGGCA2261365494ITGA2Bc.2841+27_2841+46delinsCCGGGCCTTCTGGGCGGGGA (n.2841+27_2841+46delinsCCGGGCCTTCTGGGCGGGGA)
c.2272+27_2272+46delinsCCGGGCCTTCTGGGCGGGGA
c.253+862_253+881delinsCCGGGCCTTCTGGGCGGGGA
n.2142_2161delinsCCGGGCCTTCTGGGCGGGGA
17g.44374961_44374979delCA8602567ITGA2Bc.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
17g.44374961_44374974delCA2576290934ITGA2Bc.2841+28_2841+41del (n.2841+28_2841+41del)
c.2272+28_2272+41del
c.253+863_253+876del
n.2143_2156del
17g.44374961_44374978delCA2638215018ITGA2Bc.2841+22_2841+39del (n.2841+22_2841+39del)
c.2272+22_2272+39del
c.253+857_253+874del
n.2137_2154del
 gnomAD v4
17g.44374961_44374967delCA2638215021ITGA2Bc.2841+32_2841+38del (n.2841+32_2841+38del)
c.2272+32_2272+38del
c.253+867_253+873del
n.2147_2153del
 gnomAD v4
17g.44374963_44374965delCA2809589790ITGA2Bc.2841+35_2841+37del (n.2841+35_2841+37del)
c.2272+35_2272+37del
c.253+870_253+872del
n.2150_2152del
17g.44374961_44374966delCA2638215025ITGA2Bc.2841+32_2841+37del (n.2841+32_2841+37del)
c.2272+32_2272+37del
c.253+867_253+872del
n.2147_2152del
 gnomAD v4
17g.44374963_44374967delCA2638215030ITGA2Bc.2841+31_2841+35del (n.2841+31_2841+35del)
c.2272+31_2272+35del
c.253+866_253+870del
n.2146_2150del
 gnomAD v4
17g.44374965G>ACA2638215037ITGA2Bc.2841+33C>T (n.2841+33C>T)
c.2272+33C>T
c.253+868C>T
n.2148C>T
 gnomAD v4
17g.44374965G>CCA2638215036ITGA2Bc.2841+33C>G (n.2841+33C>G)
c.2272+33C>G
c.253+868C>G
n.2148C>G
 gnomAD v4
17g.44374965G>TCA2576290936ITGA2Bc.2841+33C>A (n.2841+33C>A)
c.2272+33C>A
c.253+868C>A
n.2148C>A
 gnomAD v4
17g.44374965_44374966delCA2638215039ITGA2Bc.2841+32_2841+33del (n.2841+32_2841+33del)
c.2272+32_2272+33del
c.253+867_253+868del
n.2147_2148del
 gnomAD v4
17g.44374966_44374971delCA2638215040ITGA2Bc.2841+28_2841+33del (n.2841+28_2841+33del)
c.2272+28_2272+33del
c.253+863_253+868del
n.2143_2148del
 gnomAD v4
17g.44374970_44374974delCA2638215038ITGA2Bc.2841+29_2841+33del (n.2841+29_2841+33del)
c.2272+29_2272+33del
c.253+864_253+868del
n.2144_2148del
 gnomAD v4
17g.44374970_44374990delCA2740093760ITGA2Bc.2841+13_2841+33del (n.2841+13_2841+33del)
c.2272+13_2272+33del
c.253+848_253+868del
n.2128_2148del
 ClinVar
17g.44374966G>ACA2638215041ITGA2Bc.2841+32C>T (n.2841+32C>T)
c.2272+32C>T
c.253+867C>T
n.2147C>T
 gnomAD v4
17g.44374966G>CCA2638215042ITGA2Bc.2841+32C>G (n.2841+32C>G)
c.2272+32C>G
c.253+867C>G
n.2147C>G
 gnomAD v4
17g.44374966G>TCA2576290937ITGA2Bc.2841+32C>A (n.2841+32C>A)
c.2272+32C>A
c.253+867C>A
n.2147C>A
 gnomAD v4
17g.44374966_44374967delinsGCCA2261365505ITGA2Bc.2841+31_2841+32delinsGC (n.2841+31_2841+32delinsGC)
c.2272+31_2272+32delinsGC
c.253+866_253+867delinsGC
n.2146_2147delinsGC
17g.44374966_44374982delinsGCCCGGCCCCGCCCCACCA2261365506ITGA2Bc.2841+16_2841+32delinsGTGGGGCGGGGCCGGGC (n.2841+16_2841+32delinsGTGGGGCGGGGCCGGGC)
c.2272+16_2272+32delinsGTGGGGCGGGGCCGGGC
c.253+851_253+867delinsGTGGGGCGGGGCCGGGC
n.2131_2147delinsGTGGGGCGGGGCCGGGC
17g.44374967C>GCA2638215043ITGA2Bc.2841+31G>C (n.2841+31G>C)
c.2272+31G>C
c.253+866G>C
n.2146G>C
 gnomAD v4
17g.44374969dupCA2576290938ITGA2Bc.2841+31dup (n.2841+31dup)
c.2272+31dup
c.253+866dup
n.2146dup
 gnomAD v4
17g.44374969delCA772285551ITGA2Bc.2841+31del (n.2841+31del)
c.2272+31del
c.253+866del
n.2146del
 dbSNP gnomAD v3 gnomAD v4
17g.44374968_44374983delCA2261365507ITGA2Bc.2841+16_2841+31del (n.2841+16_2841+31del)
c.2272+16_2272+31del
c.253+851_253+866del
n.2131_2146del
 dbSNP
17g.44374968C=CA2261365508ITGA2Bc.2841+30G= (n.2841+30G=)
c.2272+30G=
c.253+865G=
n.2145G=
17g.44374968C>TCA626119822ITGA2Bc.2841+30G>A (n.2841+30G>A)
c.2272+30G>A
c.253+865G>A
n.2145G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44374968_44374970delCA2638215044ITGA2Bc.2841+28_2841+30del (n.2841+28_2841+30del)
c.2272+28_2272+30del
c.253+863_253+865del
n.2143_2145del
 gnomAD v4
17g.44374969C>ACA2638215045ITGA2Bc.2841+29G>T (n.2841+29G>T)
c.2272+29G>T
c.253+864G>T
n.2144G>T
 gnomAD v4
17g.44374969C=CA2261365509ITGA2Bc.2841+29G= (n.2841+29G=)
c.2272+29G=
c.253+864G=
n.2144G=
17g.44374969C>TCA626119823ITGA2Bc.2841+29G>A (n.2841+29G>A)
c.2272+29G>A
c.253+864G>A
n.2144G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44374969_44374970insACA2638215049ITGA2Bc.2841+28_2841+29insT (n.2841+28_2841+29insT)
c.2272+28_2272+29insT
c.253+863_253+864insT
n.2143_2144insT
 gnomAD v4
17g.44374969_44374970insAACA2261365510ITGA2Bc.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
17g.44374969_44374970insTACA2638215048ITGA2Bc.2841+28_2841+29insTA (n.2841+28_2841+29insTA)
c.2272+28_2272+29insTA
c.253+863_253+864insTA
n.2143_2144insTA
 gnomAD v4
17g.44374970G>ACA8602569ITGA2Bc.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
17g.44374970G>CCA772285559ITGA2Bc.2841+28C>G (n.2841+28C>G)
c.2272+28C>G
c.253+863C>G
n.2143C>G
 dbSNP gnomAD v3 gnomAD v4
17g.44374970G=CA2261365511ITGA2Bc.2841+28C= (n.2841+28C=)
c.2272+28C=
c.253+863C=
n.2143C=
17g.44374970G>TCA2638215047ITGA2Bc.2841+28C>A (n.2841+28C>A)
c.2272+28C>A
c.253+863C>A
n.2143C>A
 gnomAD v4
17g.44374971dupCA2638215046ITGA2Bc.2841+28dup (n.2841+28dup)
c.2272+28dup
c.253+863dup
n.2143dup
 gnomAD v4
17g.44374971G>ACA2576290939ITGA2Bc.2841+27C>T (n.2841+27C>T)
c.2272+27C>T
c.253+862C>T
n.2142C>T
 gnomAD v4
17g.44374971G>CCA2638215051ITGA2Bc.2841+27C>G (n.2841+27C>G)
c.2272+27C>G
c.253+862C>G
n.2142C>G
 gnomAD v4
17g.44374971G>TCA2576290940ITGA2Bc.2841+27C>A (n.2841+27C>A)
c.2272+27C>A
c.253+862C>A
n.2142C>A
 gnomAD v4
17g.44374976_44374980delCA2638215050ITGA2Bc.2841+23_2841+27del (n.2841+23_2841+27del)
c.2272+23_2272+27del
c.253+858_253+862del
n.2138_2142del
 gnomAD v4
17g.44374971_44374972insGCCCCCCCCCCCA2638215055ITGA2Bc.2841+26_2841+27insGGGGGGGGGGC (n.2841+26_2841+27insGGGGGGGGGGC)
c.2272+26_2272+27insGGGGGGGGGGC
c.253+861_253+862insGGGGGGGGGGC
n.2141_2142insGGGGGGGGGGC
 gnomAD v4
17g.44374972C=CA2261365512ITGA2Bc.2841+26G= (n.2841+26G=)
c.2272+26G=
c.253+861G=
n.2141G=
17g.44374972C>GCA2638215053ITGA2Bc.2841+26G>C (n.2841+26G>C)
c.2272+26G>C
c.253+861G>C
n.2141G>C
 gnomAD v4
17g.44374972C>TCA626119829ITGA2Bc.2841+26G>A (n.2841+26G>A)
c.2272+26G>A
c.253+861G>A
n.2141G>A
 gnomAD v2 gnomAD v4
17g.44374975_44374976insCCCCCCA2638215059ITGA2Bc.2841+26_2841+27insGGGGG (n.2841+26_2841+27insGGGGG)
c.2272+26_2272+27insGGGGG
c.253+861_253+862insGGGGG
n.2141_2142insGGGGG
 gnomAD v4
17g.44374975_44374976insCCCCCCCA2638215058ITGA2Bc.2841+26_2841+27insGGGGGG (n.2841+26_2841+27insGGGGGG)
c.2272+26_2272+27insGGGGGG
c.253+861_253+862insGGGGGG
n.2141_2142insGGGGGG
 gnomAD v4
17g.44374975_44374976insCCCCCCCCCCCA2638215056ITGA2Bc.2841+26_2841+27insGGGGGGGGGG (n.2841+26_2841+27insGGGGGGGGGG)
c.2272+26_2272+27insGGGGGGGGGG
c.253+861_253+862insGGGGGGGGGG
n.2141_2142insGGGGGGGGGG
 gnomAD v4
17g.44374975_44374976insCCCCCACCCCCCA2638215057ITGA2Bc.2841+26_2841+27insGTGGGGGGGGG (n.2841+26_2841+27insGTGGGGGGGGG)
c.2272+26_2272+27insGTGGGGGGGGG
c.253+861_253+862insGTGGGGGGGGG
n.2141_2142insGTGGGGGGGGG
 gnomAD v4
17g.44374975_44374976insCCCCCCCCCCCCA2638215061ITGA2Bc.2841+26_2841+27insGGGGGGGGGGG (n.2841+26_2841+27insGGGGGGGGGGG)
c.2272+26_2272+27insGGGGGGGGGGG
c.253+861_253+862insGGGGGGGGGGG
n.2141_2142insGGGGGGGGGGG
 gnomAD v4
17g.44374975dupCA2638215060ITGA2Bc.2841+26dup (n.2841+26dup)
c.2272+26dup
c.253+861dup
n.2141dup
 gnomAD v4
17g.44374973_44374975dupCA2638215052ITGA2Bc.2841+24_2841+26dup (n.2841+24_2841+26dup)
c.2272+24_2272+26dup
c.253+859_253+861dup
n.2139_2141dup
 gnomAD v4
17g.44374975delCA2638215054ITGA2Bc.2841+26del (n.2841+26del)
c.2272+26del
c.253+861del
n.2141del
 gnomAD v4
17g.44374973C>ACA2638215063ITGA2Bc.2841+25G>T (n.2841+25G>T)
c.2272+25G>T
c.253+860G>T
n.2140G>T
 gnomAD v4
17g.44374973C=CA2261365513ITGA2Bc.2841+25G= (n.2841+25G=)
c.2272+25G=
c.253+860G=
n.2140G=
17g.44374973C>TCA290946447ITGA2Bc.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
17g.44374976_44374990dupCA626119831ITGA2Bc.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
17g.44374976_44374990delCA2638215062ITGA2Bc.2841+11_2841+25del (n.2841+11_2841+25del)
c.2272+11_2272+25del
c.253+846_253+860del
n.2126_2140del
 gnomAD v4
17g.44374974C>TCA2638215065ITGA2Bc.2841+24G>A (n.2841+24G>A)
c.2272+24G>A
c.253+859G>A
n.2139G>A
 gnomAD v4
17g.44374975_44374976insCCCCCCCCACCCA2638215064ITGA2Bc.2841+24_2841+25insTGGGGGGGGGG (n.2841+24_2841+25insTGGGGGGGGGG)
c.2272+24_2272+25insTGGGGGGGGGG
c.253+859_253+860insTGGGGGGGGGG
n.2139_2140insTGGGGGGGGGG
 gnomAD v4
17g.44374975_44374976insCCCCCCCCCCCGCCCCCCCCCCCCACCCA2638215066ITGA2Bc.2841+24_2841+25insTGGGGGGGGGGGGCGGGGGGGGGGGGG (n.2841+24_2841+25insTGGGGGGGGGGGGCGGGGGGGGGGGGG)
c.2272+24_2272+25insTGGGGGGGGGGGGCGGGGGGGGGGGGG
c.253+859_253+860insTGGGGGGGGGGGGCGGGGGGGGGGGGG
n.2139_2140insTGGGGGGGGGGGGCGGGGGGGGGGGGG
 gnomAD v4
17g.44374975C>ACA2638215067ITGA2Bc.2841+23G>T (n.2841+23G>T)
c.2272+23G>T
c.253+858G>T
n.2138G>T
 gnomAD v4
17g.44374975C>GCA2638215068ITGA2Bc.2841+23G>C (n.2841+23G>C)
c.2272+23G>C
c.253+858G>C
n.2138G>C
 gnomAD v4
17g.44374975C>TCA2638215069ITGA2Bc.2841+23G>A (n.2841+23G>A)
c.2272+23G>A
c.253+858G>A
n.2138G>A
 dbSNP gnomAD v4
17g.44374976delCA2576290941ITGA2Bc.2841+22del (n.2841+22del)
c.2272+22del
c.253+857del
n.2137del
 gnomAD v4
17g.44374976G>ACA626119835ITGA2Bc.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
17g.44374976G>CCA626119836ITGA2Bc.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
17g.44374976G=CA2261365514ITGA2Bc.2841+22C= (n.2841+22C=)
c.2272+22C=
c.253+857C=
n.2137C=
17g.44374976G>TCA2638215070ITGA2Bc.2841+22C>A (n.2841+22C>A)
c.2272+22C>A
c.253+857C>A
n.2137C>A
 gnomAD v4
17g.44374977C>ACA2638215073ITGA2Bc.2841+21G>T (n.2841+21G>T)
c.2272+21G>T
c.253+856G>T
n.2136G>T
 gnomAD v4
17g.44374977C>TCA2638215072ITGA2Bc.2841+21G>A (n.2841+21G>A)
c.2272+21G>A
c.253+856G>A
n.2136G>A
 gnomAD v4
17g.44374980_44374981insCCCCCCA2638215079ITGA2Bc.2841+21_2841+22insGGGGG (n.2841+21_2841+22insGGGGG)
c.2272+21_2272+22insGGGGG
c.253+856_253+857insGGGGG
n.2136_2137insGGGGG
 gnomAD v4
17g.44374980_44374981insCCCCCCCA2638215078ITGA2Bc.2841+21_2841+22insGGGGGG (n.2841+21_2841+22insGGGGGG)
c.2272+21_2272+22insGGGGGG
c.253+856_253+857insGGGGGG
n.2136_2137insGGGGGG
 gnomAD v4
17g.44374980_44374981insCCCCCCCCA2638215077ITGA2Bc.2841+21_2841+22insGGGGGGG (n.2841+21_2841+22insGGGGGGG)
c.2272+21_2272+22insGGGGGGG
c.253+856_253+857insGGGGGGG
n.2136_2137insGGGGGGG
 gnomAD v4
17g.44374980_44374981insCCCCCCCCCA2638215076ITGA2Bc.2841+21_2841+22insGGGGGGGG (n.2841+21_2841+22insGGGGGGGG)
c.2272+21_2272+22insGGGGGGGG
c.253+856_253+857insGGGGGGGG
n.2136_2137insGGGGGGGG
 gnomAD v4
17g.44374980_44374981insCCCCCCGCCCCCCCCCA2638215071ITGA2Bc.2841+21_2841+22insGGGGCGGGGGGGGGG (n.2841+21_2841+22insGGGGCGGGGGGGGGG)
c.2272+21_2272+22insGGGGCGGGGGGGGGG
c.253+856_253+857insGGGGCGGGGGGGGGG
n.2136_2137insGGGGCGGGGGGGGGG
 gnomAD v4
17g.44374980dupCA2638215084ITGA2Bc.2841+21dup (n.2841+21dup)
c.2272+21dup
c.253+856dup
n.2136dup
 gnomAD v4
17g.44374979_44374980dupCA2638215083ITGA2Bc.2841+20_2841+21dup (n.2841+20_2841+21dup)
c.2272+20_2272+21dup
c.253+855_253+856dup
n.2135_2136dup
 gnomAD v4
17g.44374978_44374980dupCA2638215082ITGA2Bc.2841+19_2841+21dup (n.2841+19_2841+21dup)
c.2272+19_2272+21dup
c.253+854_253+856dup
n.2134_2136dup
 gnomAD v4
17g.44374977_44374980dupCA2638215081ITGA2Bc.2841+18_2841+21dup (n.2841+18_2841+21dup)
c.2272+18_2272+21dup
c.253+853_253+856dup
n.2133_2136dup
 gnomAD v4
17g.44374980delCA2638215075ITGA2Bc.2841+21del (n.2841+21del)
c.2272+21del
c.253+856del
n.2136del
 gnomAD v4
17g.44374979_44374983dupCA2638215080ITGA2Bc.2841+17_2841+21dup (n.2841+17_2841+21dup)
c.2272+17_2272+21dup
c.253+852_253+856dup
n.2132_2136dup
 gnomAD v4
17g.44374984_44374998delCA2638215074ITGA2Bc.2841+7_2841+21del
c.2272+7_2272+21del
c.253+842_253+856del
n.2122_2136del
 gnomAD v4
17g.44374978C>TCA2576290942ITGA2Bc.2841+20G>A (n.2841+20G>A)
c.2272+20G>A
c.253+855G>A
n.2135G>A
 gnomAD v4
17g.44374979C>ACA2638215085ITGA2Bc.2841+19G>T (n.2841+19G>T)
c.2272+19G>T
c.253+854G>T
n.2134G>T
 gnomAD v4
17g.44374979C>TCA2576290943ITGA2Bc.2841+19G>A (n.2841+19G>A)
c.2272+19G>A
c.253+854G>A
n.2134G>A
 gnomAD v4
17g.44374980C>ACA2638215088ITGA2Bc.2841+18G>T (n.2841+18G>T)
c.2272+18G>T
c.253+853G>T
n.2133G>T
 gnomAD v4
17g.44374980C=CA2261365515ITGA2Bc.2841+18G= (n.2841+18G=)
c.2272+18G=
c.253+853G=
n.2133G=
17g.44374980C>TCA626119839ITGA2Bc.2841+18G>A (n.2841+18G>A)
c.2272+18G>A
c.253+853G>A
n.2133G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44374981_44374982delCA2638215087ITGA2Bc.2841+17_2841+18del (n.2841+17_2841+18del)
c.2272+17_2272+18del
c.253+852_253+853del
n.2132_2133del
 gnomAD v4
17g.44374981_44374988delCA2638215086ITGA2Bc.2841+11_2841+18del (n.2841+11_2841+18del)
c.2272+11_2272+18del
c.253+846_253+853del
n.2126_2133del
 gnomAD v4
17g.44374981delCA2638215089ITGA2Bc.2841+17del (n.2841+17del)
c.2272+17del
c.253+852del
n.2132del
 gnomAD v4
17g.44374981A=CA2261365516ITGA2Bc.2841+17T= (n.2841+17T=)
c.2272+17T=
c.253+852T=
n.2132T=
17g.44374981A>CCA626119840ITGA2Bc.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
17g.44374981_44374984delCA2638215090ITGA2Bc.2841+14_2841+17del (n.2841+14_2841+17del)
c.2272+14_2272+17del
c.253+849_253+852del
n.2129_2132del
 gnomAD v4
17g.44374981_44374987delCA2594317909ITGA2Bc.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
17g.44374982C>ACA2638215092ITGA2Bc.2841+16G>T (n.2841+16G>T)
c.2272+16G>T
c.253+851G>T
n.2131G>T
 gnomAD v4
17g.44374982C=CA2261365517ITGA2Bc.2841+16G= (n.2841+16G=)
c.2272+16G=
c.253+851G=
n.2131G=
17g.44374982C>TCA626119846ITGA2Bc.2841+16G>A (n.2841+16G>A)
c.2272+16G>A
c.253+851G>A
n.2131G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44374983dupCA2638215091ITGA2Bc.2841+16dup (n.2841+16dup)
c.2272+16dup
c.253+851dup
n.2131dup
 gnomAD v4
17g.44374983C>ACA290946452ITGA2Bc.2841+15G>T (n.2841+15G>T)
c.2272+15G>T
c.253+850G>T
n.2130G>T
 dbSNP gnomAD v3 gnomAD v4
17g.44374983C=CA2261365518ITGA2Bc.2841+15G= (n.2841+15G=)
c.2272+15G=
c.253+850G=
n.2130G=
17g.44374984A=CA2261365519ITGA2Bc.2841+14T= (n.2841+14T=)
c.2272+14T=
c.253+849T=
n.2129T=
17g.44374984A>CCA983995174ITGA2Bc.2841+14T>G (n.2841+14T>G)
c.2272+14T>G
c.253+849T>G
n.2129T>G
 dbSNP gnomAD v3 gnomAD v4
17g.44374984A>GCA626119849ITGA2Bc.2841+14T>C (n.2841+14T>C)
c.2272+14T>C
c.253+849T>C
n.2129T>C
 dbSNP gnomAD v2 gnomAD v4
17g.44374984_44374987delCA2638215093ITGA2Bc.2841+11_2841+14del (n.2841+11_2841+14del)
c.2272+11_2272+14del
c.253+846_253+849del
n.2126_2129del
 gnomAD v4
17g.44374985delCA2638215094ITGA2Bc.2841+13del (n.2841+13del)
c.2272+13del
c.253+848del
n.2128del
 gnomAD v4
17g.44374985C>ACA290946454ITGA2Bc.2841+13G>T (n.2841+13G>T)
c.2272+13G>T
c.253+848G>T
n.2128G>T
 dbSNP gnomAD v4
17g.44374985C=CA2261365520ITGA2Bc.2841+13G= (n.2841+13G=)
c.2272+13G=
c.253+848G=
n.2128G=
17g.44374985C>TCA8602570ITGA2Bc.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
17g.44374985dupCA2576290945ITGA2Bc.2841+13dup (n.2841+13dup)
c.2272+13dup
c.253+848dup
n.2128dup
 gnomAD v4
17g.44374986G>ACA2638215097ITGA2Bc.2841+12C>T (n.2841+12C>T)
c.2272+12C>T
c.253+847C>T
n.2127C>T
 gnomAD v4
17g.44374986G>CCA983995179ITGA2Bc.2841+12C>G (n.2841+12C>G)
c.2272+12C>G
c.253+847C>G
n.2127C>G
 dbSNP gnomAD v3 gnomAD v4
17g.44374986G=CA2261365521ITGA2Bc.2841+12C= (n.2841+12C=)
c.2272+12C=
c.253+847C=
n.2127C=
17g.44374986G>TCA2638215096ITGA2Bc.2841+12C>A (n.2841+12C>A)
c.2272+12C>A
c.253+847C>A
n.2127C>A
 gnomAD v4
17g.44374986_44374987delCA2638215095ITGA2Bc.2841+11_2841+12del (n.2841+11_2841+12del)
c.2272+11_2272+12del
c.253+846_253+847del
n.2126_2127del
 gnomAD v4
17g.44374986_44374987insCCCCCCCCCCCCCCCCA2638215098ITGA2Bc.2841+11_2841+12insGGGGGGGGGGGGGGG (n.2841+11_2841+12insGGGGGGGGGGGGGGG)
c.2272+11_2272+12insGGGGGGGGGGGGGGG
c.253+846_253+847insGGGGGGGGGGGGGGG
n.2126_2127insGGGGGGGGGGGGGGG
 gnomAD v4
17g.44374987G>ACA2638215101ITGA2Bc.2841+11C>T (n.2841+11C>T)
c.2272+11C>T
c.253+846C>T
n.2126C>T
 gnomAD v4
17g.44374987G>CCA2638215100ITGA2Bc.2841+11C>G (n.2841+11C>G)
c.2272+11C>G
c.253+846C>G
n.2126C>G
 gnomAD v4
17g.44374987G=CA2261365522ITGA2Bc.2841+11C= (n.2841+11C=)
c.2272+11C=
c.253+846C=
n.2126C=
17g.44374987G>TCA2638215099ITGA2Bc.2841+11C>A (n.2841+11C>A)
c.2272+11C>A
c.253+846C>A
n.2126C>A
 gnomAD v4
17g.44374988C=CA2261365523ITGA2Bc.2841+10G= (n.2841+10G=)
c.2272+10G=
c.253+845G=
n.2125G=
17g.44374988C>GCA626119859ITGA2Bc.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
17g.44374988C>TCA8602571ITGA2Bc.2841+10G>A (n.2841+10G>A)
c.2272+10G>A
c.253+845G>A
n.2125G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44374988_44374990dupCA2638215102ITGA2Bc.2841+8_2841+10dup (n.2841+8_2841+10dup)
c.2272+8_2272+10dup
c.253+843_253+845dup
n.2123_2125dup
 gnomAD v4
17g.44374990delCA2638215103ITGA2Bc.2841+10del (n.2841+10del)
c.2272+10del
c.253+845del
n.2125del
 gnomAD v4
17g.44374994_44374998dupCA626119855ITGA2Bc.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
17g.44374994_44374998delCA2638215104ITGA2Bc.2841+6_2841+10del
c.2272+6_2272+10del
c.253+841_253+845del
n.2121_2125del
 gnomAD v4
17g.44374989C>ACA2638215105ITGA2Bc.2841+9G>T (n.2841+9G>T)
c.2272+9G>T
c.253+844G>T
n.2124G>T
 gnomAD v4
17g.44374989C=CA2261365524ITGA2Bc.2841+9G= (n.2841+9G=)
c.2272+9G=
c.253+844G=
n.2124G=
17g.44374989C>GCA626119863ITGA2Bc.2841+9G>C (n.2841+9G>C)
c.2272+9G>C
c.253+844G>C
n.2124G>C
 dbSNP gnomAD v2 gnomAD v4
17g.44374989C>TCA2638215106ITGA2Bc.2841+9G>A (n.2841+9G>A)
c.2272+9G>A
c.253+844G>A
n.2124G>A
 gnomAD v4
17g.44374990C>ACA2638215107ITGA2Bc.2841+8G>T (n.2841+8G>T)
c.2272+8G>T
c.253+843G>T
n.2123G>T
 gnomAD v4
17g.44374990C=CA2261365525ITGA2Bc.2841+8G= (n.2841+8G=)
c.2272+8G=
c.253+843G=
n.2123G=
17g.44374990C>TCA2261365526ITGA2Bc.2841+8G>A (n.2841+8G>A)
c.2272+8G>A
c.253+843G>A
n.2123G>A
 dbSNP gnomAD v4
17g.44374991delCA2638215108ITGA2Bc.2841+7del (n.2841+7del)
c.2272+7del
c.253+842del
n.2122del
 gnomAD v4
17g.44374991A=CA2261365527ITGA2Bc.2841+7T= (n.2841+7T=)
c.2272+7T=
c.253+842T=
n.2122T=
17g.44374991A>CCA626119865ITGA2Bc.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
17g.44374991A>GCA2261365528ITGA2Bc.2841+7T>C (n.2841+7T>C)
c.2272+7T>C
c.253+842T>C
n.2122T>C
 dbSNP gnomAD v4
17g.44374991A>TCA2638215109ITGA2Bc.2841+7T>A (n.2841+7T>A)
c.2272+7T>A
c.253+842T>A
n.2122T>A
 gnomAD v4
17g.44374992C>ACA2638215111ITGA2Bc.2841+6G>T (n.2841+6G>T)
c.2272+6G>T
c.253+841G>T
n.2121G>T
 gnomAD v4
17g.44374992C>TCA2638215112ITGA2Bc.2841+6G>A (n.2841+6G>A)
c.2272+6G>A
c.253+841G>A
n.2121G>A
 gnomAD v4
17g.44374995delCA2638215110ITGA2Bc.2841+6del (n.2841+6del)
c.2272+6del
c.253+841del
n.2121del
 gnomAD v4
17g.44374993C>ACA2638215113ITGA2Bc.2841+5G>T (n.2841+5G>T)
c.2272+5G>T
c.253+840G>T
n.2120G>T
 gnomAD v4
17g.44374993C=CA2261365529ITGA2Bc.2841+5G= (n.2841+5G=)
c.2272+5G=
c.253+840G=
n.2120G=
17g.44374993C>TCA626119867ITGA2Bc.2841+5G>A (n.2841+5G>A)
c.2272+5G>A
c.253+840G>A
n.2120G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44374994C>ACA2638215114ITGA2Bc.2841+4G>T (n.2841+4G>T)
c.2272+4G>T
c.253+839G>T
n.2119G>T
 gnomAD v4
17g.44374994C>TCA2638215115ITGA2Bc.2841+4G>A (n.2841+4G>A)
c.2272+4G>A
c.253+839G>A
n.2119G>A
 gnomAD v4
17g.44374995C>ACA2261365531ITGA2Bc.2841+3G>T (n.2841+3G>T)
c.2272+3G>T
c.253+838G>T
n.2118G>T
 dbSNP gnomAD v4
17g.44374995C=CA2261365530ITGA2Bc.2841+3G= (n.2841+3G=)
c.2272+3G=
c.253+838G=
n.2118G=
17g.44374995C>TCA2638215116ITGA2Bc.2841+3G>A (n.2841+3G>A)
c.2272+3G>A
c.253+838G>A
n.2118G>A
 gnomAD v4
17g.44374996delCA2638215117ITGA2Bc.2841+2del (n.2841+2del)
c.2272+2del
c.253+837del
n.2117del
 gnomAD v4
17g.44374996A=CA2261365532ITGA2Bc.2841+2T= (n.2841+2T=)
c.2272+2T=
c.253+837T=
n.2117T=
17g.44374996A>CCA399791495ITGA2Bc.2841+2T>G (n.2841+2T>G)
c.2272+2T>G
c.253+837T>G
n.2117T>G
 dbSNP gnomAD v3 gnomAD v4
17g.44374996A>GCA399791499ITGA2Bc.2841+2T>C (n.2841+2T>C)
c.2272+2T>C
c.253+837T>C
n.2117T>C
 gnomAD v4
17g.44374996A>TCA399791501ITGA2Bc.2841+2T>A (n.2841+2T>A)
c.2272+2T>A
c.253+837T>A
n.2117T>A
17g.44374997C>ACA399791504ITGA2Bc.2841+1G>T (n.2841+1G>T)
c.2272+1G>T
c.253+836G>T
n.2116G>T
 gnomAD v4
17g.44374997C>GCA399791516ITGA2Bc.2841+1G>C (n.2841+1G>C)
c.2272+1G>C
c.253+836G>C
n.2116G>C
17g.44374997C>TCA399791513ITGA2Bc.2841+1G>A (n.2841+1G>A)
c.2272+1G>A
c.253+836G>A
n.2116G>A
 gnomAD v4
17g.44374998C>ACA399791524ITGA2Bc.2841G>T (p.Gln947His)
c.2272G>T
c.253+835G>T
n.2115G>T
 gnomAD v4
17g.44374998C=CA2261365533ITGA2Bc.2841G= (p.Gln947=)
c.2272G=
c.253+835G=
n.2115G=
17g.44374998C>GCA399791527ITGA2Bc.2841G>C (p.Gln947His)
c.2272G>C
c.253+835G>C
n.2115G>C
 dbSNP
17g.44374998C>TCA500263469ITGA2Bc.2841G>A (p.Gln947=)
c.2272G>A
c.253+835G>A
n.2115G>A
17g.44374999T>ACA399791528ITGA2Bc.2840A>T (p.Gln947Leu)
c.2271A>T
c.253+834A>T
n.2114A>T
 dbSNP gnomAD v3 gnomAD v4
17g.44374999T>CCA399791530ITGA2Bc.2840A>G (p.Gln947Arg)
c.2271A>G
c.253+834A>G
n.2114A>G
 dbSNP gnomAD v3 gnomAD v4
17g.44374999T>GCA399791529ITGA2Bc.2840A>C (p.Gln947Pro)
c.2271A>C
c.253+834A>C
n.2114A>C
 dbSNP gnomAD v4
17g.44374999T=CA2261365534ITGA2Bc.2840A= (p.Gln947=)
c.2271A=
c.253+834A=
n.2114A=
17g.44375000G>ACA399791531ITGA2Bc.2839C>T (p.Gln947Ter)
c.2270C>T
c.253+833C>T
n.2113C>T
 gnomAD v4
17g.44375000G>CCA399791533ITGA2Bc.2839C>G (p.Gln947Glu)
c.2270C>G
c.253+833C>G
n.2113C>G
17g.44375000G>TCA399791532ITGA2Bc.2839C>A (p.Gln947Lys)
c.2270C>A
c.253+833C>A
n.2113C>A
 gnomAD v4
17g.44375001delCA2638215118ITGA2Bc.2839del (p.Gln947ArgfsTer?)
c.2270del
c.253+833del
n.2113del
 gnomAD v4
17g.44375001G>ACA500263482ITGA2Bc.2838C>T (p.Tyr946=)
c.2269C>T
c.253+832C>T
n.2112C>T
 gnomAD v4
17g.44375001G>CCA399791534ITGA2Bc.2838C>G (p.Tyr946Ter)
c.2269C>G
c.253+832C>G
n.2112C>G
17g.44375001G>TCA399791536ITGA2Bc.2838C>A (p.Tyr946Ter)
c.2269C>A
c.253+832C>A
n.2112C>A
 gnomAD v4
17g.44375002T>ACA399791538ITGA2Bc.2837A>T (p.Tyr946Phe)
c.2268A>T
c.253+831A>T
n.2111A>T
17g.44375002T>CCA399791541ITGA2Bc.2837A>G (p.Tyr946Cys)
c.2268A>G
c.253+831A>G
n.2111A>G
17g.44375002T>GCA399791546ITGA2Bc.2837A>C (p.Tyr946Ser)
c.2268A>C
c.253+831A>C
n.2111A>C
 gnomAD v4
17g.44375003A>CCA399791548ITGA2Bc.2836T>G (p.Tyr946Asp)
c.2267T>G
c.253+830T>G
n.2110T>G
17g.44375003A>GCA399791552ITGA2Bc.2836T>C (p.Tyr946His)
c.2267T>C
c.253+830T>C
n.2110T>C
17g.44375003A>TCA399791555ITGA2Bc.2836T>A (p.Tyr946Asn)
c.2267T>A
c.253+830T>A
n.2110T>A
 gnomAD v4
17g.44375004G>ACA500263498ITGA2Bc.2835C>T (p.Leu945=)
c.2266C>T
c.253+829C>T
n.2109C>T
 COSMIC
17g.44375004G>CCA500263506ITGA2Bc.2835C>G (p.Leu945=)
c.2266C>G
c.253+829C>G
n.2109C>G
17g.44375004G>TCA500263508ITGA2Bc.2835C>A (p.Leu945=)
c.2266C>A
c.253+829C>A
n.2109C>A
 gnomAD v4
17g.44375005A>CCA399791559ITGA2Bc.2834T>G (p.Leu945Arg)
c.2265T>G
c.253+828T>G
n.2108T>G
17g.44375005A>GCA399791561ITGA2Bc.2834T>C (p.Leu945Pro)
c.2265T>C
c.253+828T>C
n.2108T>C
17g.44375005A>TCA399791564ITGA2Bc.2834T>A (p.Leu945His)
c.2265T>A
c.253+828T>A
n.2108T>A
 gnomAD v4
17g.44375006G>ACA399791567ITGA2Bc.2833C>T (p.Leu945Phe)
c.2264C>T
c.253+827C>T
n.2107C>T
17g.44375006G>CCA399791572ITGA2Bc.2833C>G (p.Leu945Val)
c.2264C>G
c.253+827C>G
n.2107C>G
17g.44375006G>TCA399791577ITGA2Bc.2833C>A (p.Leu945Ile)
c.2264C>A
c.253+827C>A
n.2107C>A
 gnomAD v4
17g.44375007G>ACA500263523ITGA2Bc.2832C>T (p.Ser944=)
c.2263C>T
c.253+826C>T
n.2106C>T
 gnomAD v4
17g.44375007G>CCA399791583ITGA2Bc.2832C>G (p.Ser944Arg)
c.2263C>G
c.253+826C>G
n.2106C>G
17g.44375007G=CA2261365535ITGA2Bc.2832C= (p.Ser944=)
c.2263C=
c.253+826C=
n.2106C=
17g.44375007G>TCA399791580ITGA2Bc.2832C>A (p.Ser944Arg)
c.2263C>A
c.253+826C>A
n.2106C>A
 dbSNP gnomAD v4
17g.44375008C>ACA399791587ITGA2Bc.2831G>T (p.Ser944Ile)
c.2262G>T
c.253+825G>T
n.2105G>T
17g.44375008C>GCA399791591ITGA2Bc.2831G>C (p.Ser944Thr)
c.2262G>C
c.253+825G>C
n.2105G>C
17g.44375008C>TCA399791594ITGA2Bc.2831G>A (p.Ser944Asn)
c.2262G>A
c.253+825G>A
n.2105G>A
 gnomAD v4
17g.44375009T>ACA399791597ITGA2Bc.2830A>T (p.Ser944Cys)
c.2261A>T
c.253+824A>T
n.2104A>T
17g.44375009T>CCA399791607ITGA2Bc.2830A>G (p.Ser944Gly)
c.2261A>G
c.253+824A>G
n.2104A>G
 gnomAD v4
17g.44375009T>GCA399791608ITGA2Bc.2830A>C (p.Ser944Arg)
c.2261A>C
c.253+824A>C
n.2104A>C
 gnomAD v4
17g.44375010G>ACA500263536ITGA2Bc.2829C>T (p.Pro943=)
c.2260C>T
c.253+823C>T
n.2103C>T
 gnomAD v4
17g.44375010G>CCA500263539ITGA2Bc.2829C>G (p.Pro943=)
c.2260C>G
c.253+823C>G
n.2103C>G
17g.44375010G>TCA500263540ITGA2Bc.2829C>A (p.Pro943=)
c.2260C>A
c.253+823C>A
n.2103C>A
 gnomAD v4
17g.44375011G>ACA399791611ITGA2Bc.2828C>T (p.Pro943Leu)
c.2259C>T
c.253+822C>T
n.2102C>T
 gnomAD v4
17g.44375011G>CCA399791615ITGA2Bc.2828C>G (p.Pro943Arg)
c.2259C>G
c.253+822C>G
n.2102C>G
17g.44375011G>TCA399791618ITGA2Bc.2828C>A (p.Pro943His)
c.2259C>A
c.253+822C>A
n.2102C>A
 gnomAD v4
17g.44375012G>ACA399791621ITGA2Bc.2827C>T (p.Pro943Ser)
c.2258C>T
c.253+821C>T
n.2101C>T
 gnomAD v4
17g.44375012G>CCA399791625ITGA2Bc.2827C>G (p.Pro943Ala)
c.2258C>G
c.253+821C>G
n.2101C>G
 gnomAD v4
17g.44375012G>TCA399791627ITGA2Bc.2827C>A (p.Pro943Thr)
c.2258C>A
c.253+821C>A
n.2101C>A
 gnomAD v4
17g.44375013C>ACA500263550ITGA2Bc.2826G>T (p.Leu942=)
c.2257G>T
c.253+820G>T
n.2100G>T
 gnomAD v4
17g.44375013C=CA2261365536ITGA2Bc.2826G= (p.Leu942=)
c.2257G=
c.253+820G=
n.2100G=
17g.44375013C>GCA500263552ITGA2Bc.2826G>C (p.Leu942=)
c.2257G>C
c.253+820G>C
n.2100G>C
 gnomAD v4
17g.44375013C>TCA500263555ITGA2Bc.2826G>A (p.Leu942=)
c.2257G>A
c.253+820G>A
n.2100G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44375014A>CCA399791638ITGA2Bc.2825T>G (p.Leu942Arg)
c.2256T>G
c.253+819T>G
n.2099T>G
 gnomAD v4
17g.44375014A>GCA399791635ITGA2Bc.2825T>C (p.Leu942Pro)
c.2256T>C
c.253+819T>C
n.2099T>C
 gnomAD v4
17g.44375014A>TCA399791634ITGA2Bc.2825T>A (p.Leu942Gln)
c.2256T>A
c.253+819T>A
n.2099T>A
17g.44375015G>ACA500263575ITGA2Bc.2824C>T (p.Leu942=)
c.2255C>T
c.253+818C>T
n.2098C>T
 gnomAD v4
17g.44375015G>CCA399791641ITGA2Bc.2824C>G (p.Leu942Val)
c.2255C>G
c.253+818C>G
n.2098C>G
17g.44375015G>TCA399791644ITGA2Bc.2824C>A (p.Leu942Met)
c.2255C>A
c.253+818C>A
n.2098C>A
 gnomAD v4
17g.44375016C>ACA399791651ITGA2Bc.2823G>T (p.Trp941Cys)
c.2254G>T
c.253+817G>T
n.2097G>T
17g.44375016C>GCA399791653ITGA2Bc.2823G>C (p.Trp941Cys)
c.2254G>C
c.253+817G>C
n.2097G>C
17g.44375016C>TCA399791655ITGA2Bc.2823G>A (p.Trp941Ter)
c.2254G>A
c.253+817G>A
n.2097G>A
 gnomAD v4
17g.44375017C>ACA399791656ITGA2Bc.2822G>T (p.Trp941Leu)
c.2253G>T
c.253+816G>T
n.2096G>T
 gnomAD v4 COSMIC
17g.44375017C>GCA399791659ITGA2Bc.2822G>C (p.Trp941Ser)
c.2253G>C
c.253+816G>C
n.2096G>C
17g.44375017C>TCA399791662ITGA2Bc.2822G>A (p.Trp941Ter)
c.2253G>A
c.253+816G>A
n.2096G>A
 gnomAD v4
17g.44375018A>CCA399791666ITGA2Bc.2821T>G (p.Trp941Gly)
c.2252T>G
c.253+815T>G
n.2095T>G
17g.44375018A>GCA399791669ITGA2Bc.2821T>C (p.Trp941Arg)
c.2252T>C
c.253+815T>C
n.2095T>C
 gnomAD v4
17g.44375018A>TCA399791671ITGA2Bc.2821T>A (p.Trp941Arg)
c.2252T>A
c.253+815T>A
n.2095T>A
17g.44375019C>ACA500263596ITGA2Bc.2820G>T (p.Leu940=)
c.2251G>T
c.253+814G>T
n.2094G>T
17g.44375019C>GCA500263597ITGA2Bc.2820G>C (p.Leu940=)
c.2251G>C
c.253+814G>C
n.2094G>C
17g.44375019C>TCA500263600ITGA2Bc.2820G>A (p.Leu940=)
c.2251G>A
c.253+814G>A
n.2094G>A
 gnomAD v4
17g.44375020A=CA2261365537ITGA2Bc.2819T= (p.Leu940=)
c.2250T=
c.253+813T=
n.2093T=
17g.44375020A>CCA399791682ITGA2Bc.2819T>G (p.Leu940Arg)
c.2250T>G
c.253+813T>G
n.2093T>G
 ClinVar gnomAD v4
17g.44375020A>GCA399791679ITGA2Bc.2819T>C (p.Leu940Pro)
c.2250T>C
c.253+813T>C
n.2093T>C
 gnomAD v4
17g.44375020A>TCA399791674ITGA2Bc.2819T>A (p.Leu940Gln)
c.2250T>A
c.253+813T>A
n.2093T>A
 dbSNP gnomAD v3 gnomAD v4
17g.44375021G>ACA500263609ITGA2Bc.2818C>T (p.Leu940=)
c.2249C>T
c.253+812C>T
n.2092C>T
 dbSNP gnomAD v2 gnomAD v4
17g.44375021G>CCA399791684ITGA2Bc.2818C>G (p.Leu940Val)
c.2249C>G
c.253+812C>G
n.2092C>G
17g.44375021G=CA2261365538ITGA2Bc.2818C= (p.Leu940=)
c.2249C=
c.253+812C=
n.2092C=
17g.44375021G>TCA399791685ITGA2Bc.2818C>A (p.Leu940Met)
c.2249C>A
c.253+812C>A
n.2092C>A
 gnomAD v4
17g.44375022G>ACA500263613ITGA2Bc.2817C>T (p.Phe939=)
c.2248C>T
c.253+811C>T
n.2091C>T
 ClinVar gnomAD v4
17g.44375022G>CCA399791689ITGA2Bc.2817C>G (p.Phe939Leu)
c.2248C>G
c.253+811C>G
n.2091C>G
17g.44375022G=CA2261365539ITGA2Bc.2817C= (p.Phe939=)
c.2248C=
c.253+811C=
n.2091C=
17g.44375022G>TCA399791693ITGA2Bc.2817C>A (p.Phe939Leu)
c.2248C>A
c.253+811C>A
n.2091C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44375023A>CCA399791696ITGA2Bc.2816T>G (p.Phe939Cys)
c.2247T>G
c.253+810T>G
n.2090T>G
17g.44375023A>GCA399791709ITGA2Bc.2816T>C (p.Phe939Ser)
c.2247T>C
c.253+810T>C
n.2090T>C
17g.44375023A>TCA399791712ITGA2Bc.2816T>A (p.Phe939Tyr)
c.2247T>A
c.253+810T>A
n.2090T>A
17g.44375024A>CCA399791716ITGA2Bc.2815T>G (p.Phe939Val)
c.2246T>G
c.253+809T>G
n.2089T>G
17g.44375024A>GCA399791720ITGA2Bc.2815T>C (p.Phe939Leu)
c.2246T>C
c.253+809T>C
n.2089T>C
 gnomAD v4
17g.44375024A>TCA399791722ITGA2Bc.2815T>A (p.Phe939Ile)
c.2246T>A
c.253+809T>A
n.2089T>A
17g.44375025G>ACA290946477ITGA2Bc.2814C>T (p.Ala938=)
c.2245C>T
c.253+808C>T
n.2088C>T
 dbSNP gnomAD v4
17g.44375025G>CCA500263628ITGA2Bc.2814C>G (p.Ala938=)
c.2245C>G
c.253+808C>G
n.2088C>G
17g.44375025G=CA2261365540ITGA2Bc.2814C= (p.Ala938=)
c.2245C=
c.253+808C=
n.2088C=
17g.44375025G>TCA500263629ITGA2Bc.2814C>A (p.Ala938=)
c.2245C>A
c.253+808C>A
n.2088C>A
 gnomAD v4
17g.44375026G>ACA399791727ITGA2Bc.2813C>T (p.Ala938Val)
c.2244C>T
c.253+807C>T
n.2087C>T
 dbSNP gnomAD v2 gnomAD v4
17g.44375026G>CCA399791730ITGA2Bc.2813C>G (p.Ala938Gly)
c.2244C>G
c.253+807C>G
n.2087C>G
 dbSNP
17g.44375026G=CA2261365541ITGA2Bc.2813C= (p.Ala938=)
c.2244C=
c.253+807C=
n.2087C=
17g.44375026G>TCA399791734ITGA2Bc.2813C>A (p.Ala938Asp)
c.2244C>A
c.253+807C>A
n.2087C>A
 gnomAD v4
17g.44375027C>ACA399791743ITGA2Bc.2812G>T (p.Ala938Ser)
c.2243G>T
c.253+806G>T
n.2086G>T
 gnomAD v4
17g.44375027C>GCA399791740ITGA2Bc.2812G>C (p.Ala938Pro)
c.2243G>C
c.253+806G>C
n.2086G>C
17g.44375027C>TCA399791738ITGA2Bc.2812G>A (p.Ala938Thr)
c.2243G>A
c.253+806G>A
n.2086G>A
 gnomAD v4
17g.44375028C>ACA500263639ITGA2Bc.2811G>T (p.Leu937=)
c.2242G>T
c.253+805G>T
n.2085G>T
 dbSNP gnomAD v3 gnomAD v4
17g.44375028C=CA2261365542ITGA2Bc.2811G= (p.Leu937=)
c.2242G=
c.253+805G=
n.2085G=
17g.44375028C>GCA500263642ITGA2Bc.2811G>C (p.Leu937=)
c.2242G>C
c.253+805G>C
n.2085G>C
17g.44375028C>TCA500263644ITGA2Bc.2811G>A (p.Leu937=)
c.2242G>A
c.253+805G>A
n.2085G>A
 gnomAD v4
17g.44375029A>CCA399791749ITGA2Bc.2810T>G (p.Leu937Arg)
c.2241T>G
c.253+804T>G
n.2084T>G
17g.44375029A>GCA399791747ITGA2Bc.2810T>C (p.Leu937Pro)
c.2241T>C
c.253+804T>C
n.2084T>C
 gnomAD v4
17g.44375029A>TCA399791753ITGA2Bc.2810T>A (p.Leu937Gln)
c.2241T>A
c.253+804T>A
n.2084T>A
 gnomAD v4
17g.44375030G>ACA500263650ITGA2Bc.2809C>T (p.Leu937=)
c.2240C>T
c.253+803C>T
n.2083C>T
 dbSNP gnomAD v2 gnomAD v4
17g.44375030G>CCA399791758ITGA2Bc.2809C>G (p.Leu937Val)
c.2240C>G
c.253+803C>G
n.2083C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44375030G=CA2261365543ITGA2Bc.2809C= (p.Leu937=)
c.2240C=
c.253+803C=
n.2083C=
17g.44375030G>TCA399791760ITGA2Bc.2809C>A (p.Leu937Met)
c.2240C>A
c.253+803C>A
n.2083C>A
 gnomAD v4
17g.44375031C>ACA500263652ITGA2Bc.2808G>T (p.Val936=)
c.2239G>T
c.253+802G>T
n.2082G>T
 gnomAD v4
17g.44375031C=CA2261365544ITGA2Bc.2808G= (p.Val936=)
c.2239G=
c.253+802G=
n.2082G=
17g.44375031C>GCA500263655ITGA2Bc.2808G>C (p.Val936=)
c.2239G>C
c.253+802G>C
n.2082G>C
17g.44375031C>TCA500263656ITGA2Bc.2808G>A (p.Val936=)
c.2239G>A
c.253+802G>A
n.2082G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44375032delCA2638215119ITGA2Bc.2807del (p.Val936GlyfsTer?)
c.2238del
c.253+801del
n.2081del
 gnomAD v4
17g.44375032A>CCA399791764ITGA2Bc.2807T>G (p.Val936Gly)
c.2238T>G
c.253+801T>G
n.2081T>G
17g.44375032A>GCA399791767ITGA2Bc.2807T>C (p.Val936Ala)
c.2238T>C
c.253+801T>C
n.2081T>C
 gnomAD v4
17g.44375032A>TCA399791769ITGA2Bc.2807T>A (p.Val936Glu)
c.2238T>A
c.253+801T>A
n.2081T>A
17g.44375033C>ACA399791776ITGA2Bc.2806G>T (p.Val936Leu)
c.2237G>T
c.253+800G>T
n.2080G>T
17g.44375033C=CA2261365545ITGA2Bc.2806G= (p.Val936=)
c.2237G=
c.253+800G=
n.2080G=
17g.44375033C>GCA399791778ITGA2Bc.2806G>C (p.Val936Leu)
c.2237G>C
c.253+800G>C
n.2080G>C
17g.44375033C>TCA399791781ITGA2Bc.2806G>A (p.Val936Met)
c.2237G>A
c.253+800G>A
n.2080G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44375034C>ACA500263665ITGA2Bc.2805G>T (p.Thr935=)
c.2236G>T
c.253+799G>T
n.2079G>T
 gnomAD v4
17g.44375034C=CA2261365546ITGA2Bc.2805G= (p.Thr935=)
c.2236G=
c.253+799G=
n.2079G=
17g.44375034C>GCA500263668ITGA2Bc.2805G>C (p.Thr935=)
c.2236G>C
c.253+799G>C
n.2079G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44375034C>TCA500263670ITGA2Bc.2805G>A (p.Thr935=)
c.2236G>A
c.253+799G>A
n.2079G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44375035G>ACA399791785ITGA2Bc.2804C>T (p.Thr935Met)
c.2235C>T
c.253+798C>T
n.2078C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44375035G>CCA399791788ITGA2Bc.2804C>G (p.Thr935Arg)
c.2235C>G
c.253+798C>G
n.2078C>G
 gnomAD v4
17g.44375035G=CA2261365547ITGA2Bc.2804C= (p.Thr935=)
c.2235C=
c.253+798C=
n.2078C=
17g.44375035G>TCA399791790ITGA2Bc.2804C>A (p.Thr935Lys)
c.2235C>A
c.253+798C>A
n.2078C>A
 gnomAD v4
17g.44375036T>ACA399791803ITGA2Bc.2803A>T (p.Thr935Ser)
c.2234A>T
c.253+797A>T
n.2077A>T
17g.44375036T>CCA399791800ITGA2Bc.2803A>G (p.Thr935Ala)
c.2234A>G
c.253+797A>G
n.2077A>G
17g.44375036T>GCA399791795ITGA2Bc.2803A>C (p.Thr935Pro)
c.2234A>C
c.253+797A>C
n.2077A>C
17g.44375037G>ACA500263682ITGA2Bc.2802C>T (p.Val934=)
c.2233C>T
c.253+796C>T
n.2076C>T
17g.44375037G>CCA500263685ITGA2Bc.2802C>G (p.Val934=)
c.2233C>G
c.253+796C>G
n.2076C>G
17g.44375037G>TCA500263681ITGA2Bc.2802C>A (p.Val934=)
c.2233C>A
c.253+796C>A
n.2076C>A
 gnomAD v4
17g.44375038A>CCA399791808ITGA2Bc.2801T>G (p.Val934Gly)
c.2232T>G
c.253+795T>G
n.2075T>G
17g.44375038A>GCA399791810ITGA2Bc.2801T>C (p.Val934Ala)
c.2232T>C
c.253+795T>C
n.2075T>C
 gnomAD v4
17g.44375038A>TCA399791815ITGA2Bc.2801T>A (p.Val934Asp)
c.2232T>A
c.253+795T>A
n.2075T>A
17g.44375039C>ACA290946484ITGA2Bc.2800G>T (p.Val934Phe)
c.2231G>T
c.253+794G>T
n.2074G>T
 ClinVar dbSNP gnomAD v4
17g.44375039C=CA2261365548ITGA2Bc.2800G= (p.Val934=)
c.2231G=
c.253+794G=
n.2074G=
17g.44375039C>GCA399791823ITGA2Bc.2800G>C (p.Val934Leu)
c.2231G>C
c.253+794G>C
n.2074G>C
17g.44375039C>TCA399791826ITGA2Bc.2800G>A (p.Val934Ile)
c.2231G>A
c.253+794G>A
n.2074G>A
17g.44375040C>ACA399791831ITGA2Bc.2799G>T (p.Met933Ile)
c.2230G>T
c.253+793G>T
n.2073G>T
 gnomAD v4
17g.44375040C>GCA399791833ITGA2Bc.2799G>C (p.Met933Ile)
c.2230G>C
c.253+793G>C
n.2073G>C
17g.44375040C>TCA399791836ITGA2Bc.2799G>A (p.Met933Ile)
c.2230G>A
c.253+793G>A
n.2073G>A
 gnomAD v4
17g.44375041A>CCA399791840ITGA2Bc.2798T>G (p.Met933Arg)
c.2229T>G
c.253+792T>G
n.2072T>G
17g.44375041A>GCA399791843ITGA2Bc.2798T>C (p.Met933Thr)
c.2229T>C
c.253+792T>C
n.2072T>C
 gnomAD v4
17g.44375041A>TCA399791846ITGA2Bc.2798T>A (p.Met933Lys)
c.2229T>A
c.253+792T>A
n.2072T>A
17g.44375042T>ACA399791854ITGA2Bc.2797A>T (p.Met933Leu)
c.2228A>T
c.253+791A>T
n.2071A>T
 dbSNP gnomAD v2
17g.44375042T>CCA399791857ITGA2Bc.2797A>G (p.Met933Val)
c.2228A>G
c.253+791A>G
n.2071A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44375042T>GCA399791851ITGA2Bc.2797A>C (p.Met933Leu)
c.2228A>C
c.253+791A>C
n.2071A>C
17g.44375042T=CA2261365549ITGA2Bc.2797A= (p.Met933=)
c.2228A=
c.253+791A=
n.2071A=
17g.44375043G>ACA500263711ITGA2Bc.2796C>T (p.Ala932=)
c.2227C>T
c.253+790C>T
n.2070C>T
 gnomAD v4
17g.44375043G>CCA500263713ITGA2Bc.2796C>G (p.Ala932=)
c.2227C>G
c.253+790C>G
n.2070C>G
 dbSNP gnomAD v2 gnomAD v4
17g.44375043G=CA2261365550ITGA2Bc.2796C= (p.Ala932=)
c.2227C=
c.253+790C=
n.2070C=
17g.44375043G>TCA500263712ITGA2Bc.2796C>A (p.Ala932=)
c.2227C>A
c.253+790C>A
n.2070C>A
 gnomAD v4
17g.44375044G>ACA399791862ITGA2Bc.2795C>T (p.Ala932Val)
c.2226C>T
c.253+789C>T
n.2069C>T
17g.44375044G>CCA399791865ITGA2Bc.2795C>G (p.Ala932Gly)
c.2226C>G
c.253+789C>G
n.2069C>G
17g.44375044G=CA2261365551ITGA2Bc.2795C= (p.Ala932=)
c.2226C=
c.253+789C=
n.2069C=
17g.44375044G>TCA399791867ITGA2Bc.2795C>A (p.Ala932Asp)
c.2226C>A
c.253+789C>A
n.2069C>A
 dbSNP gnomAD v2 gnomAD v4
17g.44375045C>ACA399791868ITGA2Bc.2794G>T (p.Ala932Ser)
c.2225G>T
c.253+788G>T
n.2068G>T
 dbSNP gnomAD v2 gnomAD v4
17g.44375045C=CA2261365552ITGA2Bc.2794G= (p.Ala932=)
c.2225G=
c.253+788G=
n.2068G=
17g.44375045C>GCA399791869ITGA2Bc.2794G>C (p.Ala932Pro)
c.2225G>C
c.253+788G>C
n.2068G>C
17g.44375045C>TCA290946489ITGA2Bc.2794G>A (p.Ala932Thr)
c.2225G>A
c.253+788G>A
n.2068G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44375047dupCA2638215120ITGA2Bc.2794dup (p.Ala932GlyfsTer?)
c.2225dup
c.253+788dup
n.2068dup
 gnomAD v4
17g.44375046C>ACA500263723ITGA2Bc.2793G>T (p.Arg931=)
c.2224G>T
c.253+787G>T
n.2067G>T
 gnomAD v4
17g.44375046C=CA2261365553ITGA2Bc.2793G= (p.Arg931=)
c.2224G=
c.253+787G=
n.2067G=
17g.44375046C>GCA500263726ITGA2Bc.2793G>C (p.Arg931=)
c.2224G>C
c.253+787G>C
n.2067G>C
 gnomAD v4
17g.44375046C>TCA500263727ITGA2Bc.2793G>A (p.Arg931=)
c.2224G>A
c.253+787G>A
n.2067G>A
 dbSNP gnomAD v2
17g.44375047C>ACA399791871ITGA2Bc.2792G>T (p.Arg931Leu)
c.2223G>T
c.253+786G>T
n.2066G>T
 gnomAD v4
17g.44375047C=CA2261365554ITGA2Bc.2792G= (p.Arg931=)
c.2223G=
c.253+786G=
n.2066G=
17g.44375047C>GCA399791873ITGA2Bc.2792G>C (p.Arg931Pro)
c.2223G>C
c.253+786G>C
n.2066G>C
17g.44375047C>TCA399791876ITGA2Bc.2792G>A (p.Arg931Gln)
c.2223G>A
c.253+786G>A
n.2066G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44375048G>ACA290946494ITGA2Bc.2791C>T (p.Arg931Trp)
c.2222C>T
c.253+785C>T
n.2065C>T
 dbSNP gnomAD v2 gnomAD v4
17g.44375048G>CCA399791880ITGA2Bc.2791C>G (p.Arg931Gly)
c.2222C>G
c.253+785C>G
n.2065C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44375048G=CA2261365555ITGA2Bc.2791C= (p.Arg931=)
c.2222C=
c.253+785C=
n.2065C=
17g.44375048G>TCA500263733ITGA2Bc.2791C>A (p.Arg931=)
c.2222C>A
c.253+785C>A
n.2065C>A
 gnomAD v4
17g.44375048_44375052delinsGCTGCCA2261365556ITGA2Bc.2787_2791delinsGCAGC (p.Gly929=)
c.2218_2222delinsGCAGC
c.253+781_253+785delinsGCAGC
n.2061_2065delinsGCAGC
17g.44375049C>ACA399791885ITGA2Bc.2790G>T (p.Gln930His)
c.2221G>T
c.253+784G>T
n.2064G>T
 gnomAD v4
17g.44375049C>GCA399791888ITGA2Bc.2790G>C (p.Gln930His)
c.2221G>C
c.253+784G>C
n.2064G>C
17g.44375049C>TCA500263742ITGA2Bc.2790G>A (p.Gln930=)
c.2221G>A
c.253+784G>A
n.2064G>A
 gnomAD v4
17g.44375050_44375053delCA290946500ITGA2Bc.2787_2790del (p.Gln930GlyfsTer?)
c.2218_2221del
c.253+781_253+784del
n.2061_2064del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44375050T>ACA399791899ITGA2Bc.2789A>T (p.Gln930Leu)
c.2220A>T
c.253+783A>T
n.2063A>T
17g.44375050T>CCA399791896ITGA2Bc.2789A>G (p.Gln930Arg)
c.2220A>G
c.253+783A>G
n.2063A>G
 gnomAD v4
17g.44375050T>GCA399791893ITGA2Bc.2789A>C (p.Gln930Pro)
c.2220A>C
c.253+783A>C
n.2063A>C
17g.44375051G>ACA399791903ITGA2Bc.2788C>T (p.Gln930Ter)
c.2219C>T
c.253+782C>T
n.2062C>T
 gnomAD v4
17g.44375051G>CCA399791904ITGA2Bc.2788C>G (p.Gln930Glu)
c.2219C>G
c.253+782C>G
n.2062C>G
 dbSNP
17g.44375051G=CA2261365557ITGA2Bc.2788C= (p.Gln930=)
c.2219C=
c.253+782C=
n.2062C=
17g.44375051G>TCA399791908ITGA2Bc.2788C>A (p.Gln930Lys)
c.2219C>A
c.253+782C>A
n.2062C>A
 gnomAD v4
17g.44375052C>ACA500263752ITGA2Bc.2787G>T (p.Gly929=)
c.2218G>T
c.253+781G>T
n.2061G>T
17g.44375052C=CA2261365558ITGA2Bc.2787G= (p.Gly929=)
c.2218G=
c.253+781G=
n.2061G=
17g.44375052C>GCA500263755ITGA2Bc.2787G>C (p.Gly929=)
c.2218G>C
c.253+781G>C
n.2061G>C
 gnomAD v4
17g.44375052C>TCA500263758ITGA2Bc.2787G>A (p.Gly929=)
c.2218G>A
c.253+781G>A
n.2061G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44375053C>ACA399791913ITGA2Bc.2786G>T (p.Gly929Val)
c.2217G>T
c.253+780G>T
n.2060G>T
 gnomAD v4
17g.44375053C=CA2261365560ITGA2Bc.2786G= (p.Gly929=)
c.2217G=
c.253+780G=
n.2060G=
17g.44375053C>GCA399791914ITGA2Bc.2786G>C (p.Gly929Ala)
c.2217G>C
c.253+780G>C
n.2060G>C
17g.44375053C>TCA399791916ITGA2Bc.2786G>A (p.Gly929Glu)
c.2217G>A
c.253+780G>A
n.2060G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44375053_44375055delinsCCGCA2261365559ITGA2Bc.2784_2786delinsCGG (p.Arg928=)
c.2215_2217delinsCGG
c.253+778_253+780delinsCGG
n.2058_2060delinsCGG
17g.44375054C>ACA399791920ITGA2Bc.2785G>T (p.Gly929Trp)
c.2216G>T
c.253+779G>T
n.2059G>T
 gnomAD v4
17g.44375054C=CA2261365561ITGA2Bc.2785G= (p.Gly929=)
c.2216G=
c.253+779G=
n.2059G=
17g.44375054C>GCA399791924ITGA2Bc.2785G>C (p.Gly929Arg)
c.2216G>C
c.253+779G>C
n.2059G>C
17g.44375054C>TCA399791927ITGA2Bc.2785G>A (p.Gly929Arg)
c.2216G>A
c.253+779G>A
n.2059G>A
 dbSNP gnomAD v4
17g.44375059_44375060delCA8602572ITGA2Bc.2784_2785del (p.Gly929AlafsTer?)
c.2215_2216del
c.253+778_253+779del
n.2058_2059del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44375055G>ACA500263775ITGA2Bc.2784C>T (p.Arg928=)
c.2215C>T
c.253+778C>T
n.2058C>T
 dbSNP gnomAD v3 gnomAD v4
17g.44375055G>CCA500263774ITGA2Bc.2784C>G (p.Arg928=)
c.2215C>G
c.253+778C>G
n.2058C>G
 gnomAD v4
17g.44375055G=CA2261365562ITGA2Bc.2784C= (p.Arg928=)
c.2215C=
c.253+778C=
n.2058C=
17g.44375055G>TCA500263771ITGA2Bc.2784C>A (p.Arg928=)
c.2215C>A
c.253+778C>A
n.2058C>A
 gnomAD v4
17g.44375056C>ACA399791933ITGA2Bc.2783G>T (p.Arg928Leu)
c.2214G>T
c.253+777G>T
n.2057G>T
 gnomAD v4
17g.44375056C=CA2261365563ITGA2Bc.2783G= (p.Arg928=)
c.2214G=
c.253+777G=
n.2057G=
17g.44375056C>GCA399791937ITGA2Bc.2783G>C (p.Arg928Pro)
c.2214G>C
c.253+777G>C
n.2057G>C
17g.44375056C>TCA399791938ITGA2Bc.2783G>A (p.Arg928His)
c.2214G>A
c.253+777G>A
n.2057G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44375057G>ACA8602573ITGA2Bc.2782C>T (p.Arg928Cys)
c.2213C>T
c.253+776C>T
n.2056C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44375057G>CCA399791948ITGA2Bc.2782C>G (p.Arg928Gly)
c.2213C>G
c.253+776C>G
n.2056C>G
 gnomAD v4
17g.44375057G=CA2261365564ITGA2Bc.2782C= (p.Arg928=)
c.2213C=
c.253+776C=
n.2056C=
17g.44375057G>TCA399791944ITGA2Bc.2782C>A (p.Arg928Ser)
c.2213C>A
c.253+776C>A
n.2056C>A
 dbSNP gnomAD v2 gnomAD v4
17g.44375058C>ACA500263786ITGA2Bc.2781G>T (p.Ala927=)
c.2212G>T
c.253+775G>T
n.2055G>T
17g.44375058C=CA2261365565ITGA2Bc.2781G= (p.Ala927=)
c.2212G=
c.253+775G=
n.2055G=
17g.44375058C>GCA500263790ITGA2Bc.2781G>C (p.Ala927=)
c.2212G>C
c.253+775G>C
n.2055G>C
 dbSNP gnomAD v3 gnomAD v4
17g.44375058C>TCA500263789ITGA2Bc.2781G>A (p.Ala927=)
c.2212G>A
c.253+775G>A
n.2055G>A
 gnomAD v4
17g.44375058dupCA2261365566ITGA2Bc.2781dup (p.Arg928AlafsTer?)
c.2212dup
c.253+775dup
n.2055dup
 dbSNP
17g.44375059G>ACA399791951ITGA2Bc.2780C>T (p.Ala927Val)
c.2211C>T
c.253+774C>T
n.2054C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.44375059G>CCA399791957ITGA2Bc.2780C>G (p.Ala927Gly)
c.2211C>G
c.253+774C>G
n.2054C>G
17g.44375059G=CA2261365567ITGA2Bc.2780C= (p.Ala927=)
c.2211C=
c.253+774C=
n.2054C=
17g.44375059G>TCA399791953ITGA2Bc.2780C>A (p.Ala927Glu)
c.2211C>A
c.253+774C>A
n.2054C>A
 gnomAD v4
17g.44375060C>ACA399791962ITGA2Bc.2779G>T (p.Ala927Ser)
c.2210G>T
c.253+773G>T
n.2053G>T
 gnomAD v4
17g.44375060C=CA2261365568ITGA2Bc.2779G= (p.Ala927=)
c.2210G=
c.253+773G=
n.2053G=
17g.44375060C>GCA399791964ITGA2Bc.2779G>C (p.Ala927Pro)
c.2210G>C
c.253+773G>C
n.2053G>C
17g.44375060C>TCA399791968ITGA2Bc.2779G>A (p.Ala927Thr)
c.2210G>A
c.253+773G>A
n.2053G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44375061C>ACA399791970ITGA2Bc.2778G>T (p.Met926Ile)
c.2209G>T
c.253+772G>T
n.2052G>T
17g.44375061C=CA2261365569ITGA2Bc.2778G= (p.Met926=)
c.2209G=
c.253+772G=
n.2052G=
17g.44375061C>GCA399791973ITGA2Bc.2778G>C (p.Met926Ile)
c.2209G>C
c.253+772G>C
n.2052G>C
17g.44375061C>TCA399791976ITGA2Bc.2778G>A (p.Met926Ile)
c.2209G>A
c.253+772G>A
n.2052G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44375062A=CA2261365570ITGA2Bc.2777T= (p.Met926=)
c.2208T=
c.253+771T=
n.2051T=
17g.44375062A>CCA399791984ITGA2Bc.2777T>G (p.Met926Arg)
c.2208T>G
c.253+771T>G
n.2051T>G
17g.44375062A>GCA399791979ITGA2Bc.2777T>C (p.Met926Thr)
c.2208T>C
c.253+771T>C
n.2051T>C
 dbSNP gnomAD v4
17g.44375062A>TCA399791982ITGA2Bc.2777T>A (p.Met926Lys)
c.2208T>A
c.253+771T>A
n.2051T>A
 gnomAD v4
17g.44375063delCA2638215121ITGA2Bc.2776del (p.Met926TrpfsTer?)
c.2207del
c.253+770del
n.2050del
 gnomAD v4
17g.44375063T>ACA399791989ITGA2Bc.2776A>T (p.Met926Leu)
c.2207A>T
c.253+770A>T
n.2050A>T
 gnomAD v4
17g.44375063T>CCA399791993ITGA2Bc.2776A>G (p.Met926Val)
c.2207A>G
c.253+770A>G
n.2050A>G
17g.44375063T>GCA399791996ITGA2Bc.2776A>C (p.Met926Leu)
c.2207A>C
c.253+770A>C
n.2050A>C
17g.44375064C>ACA399791999ITGA2Bc.2775G>T (p.Glu925Asp)
c.2206G>T
c.253+769G>T
n.2049G>T
 gnomAD v4
17g.44375064C>GCA399792002ITGA2Bc.2775G>C (p.Glu925Asp)
c.2206G>C
c.253+769G>C
n.2049G>C
17g.44375064C>TCA500263811ITGA2Bc.2775G>A (p.Glu925=)
c.2206G>A
c.253+769G>A
n.2049G>A
17g.44375065T>ACA399792005ITGA2Bc.2774A>T (p.Glu925Val)
c.2205A>T
c.253+768A>T
n.2048A>T
17g.44375065T>CCA399792012ITGA2Bc.2774A>G (p.Glu925Gly)
c.2205A>G
c.253+768A>G
n.2048A>G
 gnomAD v4
17g.44375065T>GCA399792009ITGA2Bc.2774A>C (p.Glu925Ala)
c.2205A>C
c.253+768A>C
n.2048A>C

Number of alleles fetched